madprime's Harvard PGP data (filename: "PGP-Harvard-hu3DC5EA-var.vcf.bz2")

Variant Allele Freq Info

chr7:g.92129162del

ClinVar: NM_000466.2(PEX1): c.2584-10delT

Homozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr9:g.98206399T>A

ClinVar: NM_000264.4(PTCH1): c.*2276A>T

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr9:g.101913690T>G

ClinVar: NM_004612.3(TGFBR1): c.*2103T>G

Heterozygous

Unknown
Disease: Loeys-Dietz syndrome
Inheritance: dominant
Significance: causal
Evidence: reported
Clinvar records: Uncertain significance: Loeys-Dietz syndrome 1 (LDS1)
Uncertain significance: Loeys-Dietz syndrome (LDS)
Uncertain significance: Thoracic aortic aneurysm and aortic dissection (TAAD)
Notes:

Although this variant is reported as potentially causal for a serious genetic disease by Illumina Clinical Services Lab, it might be quite common (contradicting that hypothesis). MyVariant reports it was carried by 26 out of 200 patients in the Wellderly study – which would strongly contradict a pathogenic effect. Other resources don't seem to list this variant; additional data about allele frequency would help confirm that this proposed effect is contradicted.

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chr9:g.136433778G>A

ClinVar: NM_014694.3(ADAMTSL2): c.2142G>A (p.Ser714=)

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr9:g.136434610C>G

ClinVar: NM_014694.3(ADAMTSL2): c.2325C>G (p.Ser775=)

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.92678741_92678758del

ClinVar: NM_014391.2(ANKRD1): c.346-29_346-12del18

Homozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.112773063G>T

ClinVar: NM_007373.3(SHOC2): c.*1487G>T

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.111654664_111654670del

ClinVar: NM_024740.2(ALG9): c.*2451_*2457delCATCTTG

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.8756210T>A

ClinVar: NM_020661.3(AICDA): c.*670A>T

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.54416601_54416602insATT

ClinVar: NM_001202.5(BMP4): c.*148_*149insAAT

Hemizygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.95556509del

ClinVar: NM_177438.2(DICER1): c.*326delT

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.6355194del

ClinVar: NM_031220.3(PITPNM3): c.*3464delG

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.8645321del

ClinVar: NM_030957.3(ADAMTS10): c.*456delG

Hemizygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.65947891A>G

ClinVar: NM_004727.2(SLC24A1): c.*1474A>G

Heterozygous

0.000032 Clinvar entries without associated notes: Add effect notes to GenNotes

chr9:g.36249368T>A

ClinVar: NM_001128227.2(GNE): c.78A>T (p.Lys26Asn)

Heterozygous

0.000041 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.56290388G>A

ClinVar: NM_017777.3(MKS1): c.813C>T (p.His271=)

Heterozygous

0.000065 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.197070245_197070248del

ClinVar: NM_018136.4(ASPM): c.8133_8136del (p.Lys2712Leufs)

Heterozygous

0.000066
Disease: Primary Microcephaly 5 (MCPH5)
Inheritance: recessive
Significance: causal
Evidence: reported
Clinvar records: Pathogenic: Primary autosomal recessive microcephaly 5 (MCPH5)
Notes:

Reported to cause primary microcephaly 5 (MCPH5), causing decreased head circumference, associated with mental retardation and speech delay. May also cause short stature or mild seizures.

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chr2:g.227870929C>T

ClinVar: NM_000092.4(COL4A4): c.*1112G>A

Heterozygous

0.000097 Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.88431926T>C

ClinVar: NM_000153.3(GALC): c.956A>G (p.Tyr319Cys)

Heterozygous

0.000097 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.56844463C>T

ClinVar: NM_012064.3(MIP): c.*601G>A

Heterozygous

0.000097 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.144510053C>T

ClinVar: NM_003764.3(STX11): c.*1425C>T

Heterozygous

0.000163 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.73616014C>T

ClinVar: NM_005477.2(HCN4): c.2420G>A (p.Arg807His)

Heterozygous

0.000194 Clinvar entries without associated notes: Add effect notes to GenNotes

chr20:g.62526528G>C

ClinVar: NM_025219.2(DNAJC5): c.-160G>C

Heterozygous

0.000208 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.25125783T>C

ClinVar: NM_016955.3(SEPSECS): c.1276A>G (p.Thr426Ala)

Heterozygous

0.000226 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.45974729T>C

ClinVar: NM_015506.2(MMACHC): c.691T>C (p.Leu231=)

Heterozygous

0.000323 Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.76837769C>A

ClinVar: NM_004452.3(ESRRB): c.-292C>A

Heterozygous

0.000387 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.52204260T>C

ClinVar: NM_014191.3(SCN8A): c.*3047T>C

Heterozygous

0.000453 Clinvar entries without associated notes: Add effect notes to GenNotes

chr9:g.113457722T>C

ClinVar: NM_005592.3(MUSK): c.398T>C (p.Ile133Thr)

Heterozygous

0.000599 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.195595212C>T

ClinVar: NM_005781.4(TNK2): c.1912G>A (p.Val638Met)

Heterozygous

0.000717 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.73453966C>T

ClinVar: NM_022124.5(CDH23): c.2239C>T (p.Arg747Cys)

Heterozygous

0.001068 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.61574607C>T

ClinVar: NM_000789.3(ACE): c.3801C>T (p.Ile1267=)

Heterozygous

0.001133 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.73575465A>T

ClinVar: NM_022124.5(CDH23): c.*430A>T

Heterozygous

0.001196 Clinvar entries without associated notes: Add effect notes to GenNotes

chr20:g.56140633G>A

ClinVar: NM_002591.3(PCK1): c.1642G>A (p.Ala548Thr)

Heterozygous

0.001260 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.4712410T>C

ClinVar: NM_002222.5(ITPR1): c.1962-3T>C

Heterozygous

0.001291 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.167138296T>C

ClinVar: NM_002977.3(SCN9A): c.1964A>G (p.Lys655Arg)

Heterozygous

0.001358 Clinvar entries without associated notes:

chr3:g.124467442G>A

ClinVar: NM_000373.3(UMPS): c.*4511G>A

Heterozygous

0.001486 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.27142176G>A

ClinVar: NM_006735.3(HOXA2): c.-57C>T

Heterozygous

0.001519 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.70990717G>A

ClinVar: NM_001851.4(COL9A1): c.902C>T (p.Pro301Leu)

Heterozygous

0.001554 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.201299842G>A

ClinVar: NM_001005337.2(PKP1): c.*673G>A

Heterozygous

0.001714 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.207658957C>G

ClinVar: NM_014929.3(FASTKD2): c.*2431C>G

Heterozygous

0.001778 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.37814161C>A

ClinVar: NM_000514.3(GDNF): c.*1592G>T

Heterozygous

0.002069 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.18192977G>C

ClinVar: NM_005535.2(IL12RB1): c.222C>G (p.Ser74Arg)

Heterozygous

0.002069 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.7900056A>G

ClinVar: NM_002454.2(MTRR): c.1982A>G (p.His661Arg)

Heterozygous

0.002098 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.76869378G>A

ClinVar: NM_000260.3(MYO7A): c.905G>A (p.Arg302His)

Heterozygous

0.002717 Clinvar entries without associated notes:

chr12:g.32778663C>A

ClinVar: NM_139241.3(FGD4): c.1711C>A (p.Pro571Thr)

Heterozygous

0.002909 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.148917570G>A

ClinVar: NM_000096.3(CP): c.1430C>T (p.Pro477Leu)

Heterozygous

0.003004 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.78078341T>G

ClinVar: NM_000152.4(GAA): c.-32-13T>G

Heterozygous

0.003009
Disease: Glycogen storage disease, type II
Inheritance: recessive
Significance: causal
Evidence: well-established
Clinvar records: Pathogenic: Glycogen storage disease II, adult form (GAA)
Pathogenic: Glycogen storage disease, type II (GSD2)
Pathogenic: not provided
Notes:

This variant is reported pathogenic by four different sources in ClinVar, causing Glycogen storage disease, type II in a recessive manner. OMIM reports several publications highlighting his variant, including Montalvo et al 2006, where this variant had an allele frequency of 40% in 40 Italian cases. Roughly 1% of individuals with European ancestry carry this variant, and in patients it is typically reported "compound heterozygous" with another more severe variant. Kroos et al 2007 describe this variant as the most common one in adults with the disease (presumably because it is less severe than other mutations, and so affected individuals are more likely to survive to adulthood).

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Clinvar entries without associated notes:

chr11:g.18332420C>T

ClinVar: NM_181507.1(HPS5): c.345G>A (p.Met115Ile)

Heterozygous

0.003046 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.107356130C>T

ClinVar: NM_000441.1(SLC26A4): c.*239C>T

Heterozygous

0.003229 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.113455232A>C

ClinVar: NM_003051.3(SLC16A1): c.*1281T>G

Heterozygous

0.003267 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.119216142C>A

ClinVar: NM_031433.3(MFRP): c.629G>T (p.Gly210Val)

Heterozygous

0.003296 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.148379995G>C

ClinVar: NM_024577.3(SH3TC2): c.*4279C>G

Heterozygous

0.003395 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.208988920G>C

ClinVar: NM_006891.3(CRYGD): c.168C>G (p.Tyr56Ter)

Heterozygous

0.003491 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.216243517T>C

ClinVar: NM_206933.2(USH2A): c.5975A>G (p.Tyr1992Cys)

Heterozygous

0.003521 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.17589639C>T

ClinVar: NM_014339.6(IL17RA): c.1530C>T (p.Asp510=)

Heterozygous

0.003655 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.11847691C>T

ClinVar: NM_005957.4(MTHFR): c.*3046G>A

Heterozygous

0.003716 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.133494273C>A

ClinVar: NM_001063.3(TF): c.1688-4C>A

Heterozygous

0.003885 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.74747568C>T

ClinVar: NM_024306.4(FA2H): c.*520G>A

Heterozygous

0.004430 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.95768842G>A

ClinVar: NM_000439.4(PCSK1): c.-96C>T

Heterozygous

0.004619 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.76791515G>C

ClinVar: NM_012330.3(KAT6B): c.*711G>C

Heterozygous

0.004913 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.120057110C>T

ClinVar: NM_016599.4(MYOZ2): c.-42C>T

Heterozygous

0.005007 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.19209751G>A

ClinVar: NM_003476.4(CSRP3): c.213C>T (p.Ile71=)

Heterozygous

0.005233 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.33673125C>T

ClinVar: NM_004737.6(LARGE1): c.1994G>A (p.Arg665His)

Heterozygous

0.005325 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.137540423C>T

ClinVar: NM_000416.2(IFNGR1): c.42G>A (p.Val14=)

Heterozygous

0.005651 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.216420214G>T

ClinVar: NM_206933.2(USH2A): c.2522C>A (p.Ser841Tyr)

Heterozygous

0.005846 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.150690784C>T

ClinVar: NM_174878.2(CLRN1): c.-289G>A

Heterozygous

0.005907 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.21229609C>T

ClinVar: NM_000384.2(APOB): c.10131G>A (p.Leu3377=)

Heterozygous

0.005976 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.21225912C>T

ClinVar: NM_000384.2(APOB): c.12382G>A (p.Val4128Met)

Heterozygous

0.006039 Clinvar entries without associated notes: Add effect notes to GenNotes

chr21:g.47836466C>T

ClinVar: NM_006031.5(PCNT): c.6634C>T (p.Arg2212Trp)

Heterozygous

0.006176 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.43006408A>G

ClinVar: NM_014780.4(CUL7): c.4463T>C (p.Leu1488Pro)

Heterozygous

0.006588 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.21978734G>A

ClinVar: NM_005144.4(HR): c.2211C>T (p.Pro737=)

Heterozygous

0.006589 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.128211729G>A

ClinVar: NM_032638.4(GATA2): c.-46+13C>T

Heterozygous

0.006673 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.148206885C>T

ClinVar: NM_000024.5(ADRB2): c.491C>T (p.Thr164Ile)

Heterozygous

0.006975
Trait: Reduced sensitivity to β-AR agonist drugs
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: drug response: Beta-2-adrenoreceptor agonist, reduced response to
Notes:

This rare variant in β2-Adrenoceptor has only reported heterozygously (in 2-4% of the population) and strongly decreases the protein’s responsiveness to inducing compounds (agonists). Carriers of this variant are less sensitive to induction of increased heart rate, heart contraction, and vasodilation by β-AR agonists. Mixed data suggests that this variant does not have a significant impact on hypertension or heart disease. It may affect responsiveness to beta blocker drugs.

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Trait: Reduced response to β2 adrenergic agonists
Inheritance: additive
Significance: causal
Evidence: reported
Clinvar records: drug response: Beta-2-adrenoreceptor agonist, reduced response to
Notes:

This is a variant in the β2 Adrenergic Receptor, which is involved in smooth muscle response. This protein is targeted by a class of drugs, β2 adrenergic agonists, primarily used to treat asthma. A small 2004 study, Dishy et al., study 5 carriers and 21 non-carriers. They reported carriers had reduced vasodilation response to isoproterenol.

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chr5:g.37153871G>T

ClinVar: NM_023073.3(CPLANE1): c.8182C>A (p.Pro2728Thr)

Heterozygous

0.007105 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.148373410C>T

ClinVar: NM_024577.3(SH3TC2): c.*10864G>A

Heterozygous

0.007328 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.114304426G>A

ClinVar: NM_001148.4(ANK2): c.*1799G>A

Heterozygous

0.007719 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.148890179C>T

ClinVar: NM_032383.4(HPS3): c.*170C>T

Homozygous

0.008255 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.146577186G>A

ClinVar: NM_172250.2(MMAA): c.*600G>A

Heterozygous

0.008429 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.10659338C>G

ClinVar: NM_004565.2(PEX14): c.213C>G (p.Gly71=)

Heterozygous

0.008778 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.89865073T>C

ClinVar: NM_002693.2(POLG): c.2492A>G (p.Tyr831Cys)

Heterozygous

0.009383 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.36336453G>C

ClinVar: NM_004646.3(NPHS1): c.1758-11C>G

Heterozygous

0.009443 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.53807303_53807304insACAA

ClinVar: NM_182758.3(WDR72): c.*2592_*2593insTTGT

Heterozygous

0.009502 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.172641660C>T

ClinVar: NM_003705.4(SLC25A12): c.*124G>A

Heterozygous

0.010241 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.15931171C>T

ClinVar: NM_017775.3(TTC19): c.*335C>T

Heterozygous

0.010369 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.215901510C>T

ClinVar: NM_206933.2(USH2A): c.11928G>A (p.Thr3976=)

Heterozygous

0.010819 Clinvar entries without associated notes: Add effect notes to GenNotes

chr13:g.33639045T>C

ClinVar: NM_004795.3(KL): c.*722T>C

Heterozygous

0.011562 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.144512298C>G

ClinVar: NM_003764.3(STX11): c.*3670C>G

Heterozygous

0.012080 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.1774757G>T

ClinVar: NM_001909.4(CTSD): c.1215C>A (p.Gly405=)

Heterozygous

0.012183 Clinvar entries without associated notes: Add effect notes to GenNotes

chr20:g.30408306C>G

ClinVar: NM_033118.3(MYLK2): c.430C>G (p.Pro144Ala)

Heterozygous

0.012510 Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.44157764C>A

ClinVar: NM_144612.6(LOXHD1): c.1876G>T (p.Gly626Cys)

Heterozygous

0.013019 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.148364868T>A

ClinVar: NM_024577.3(SH3TC2): c.*19406A>T

Heterozygous

0.013380 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.27069583A>C

ClinVar: NM_178170.2(NEK8): c.*578A>C

Heterozygous

0.014137 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.230850251C>T

ClinVar: NM_000029.3(AGT): c.-423G>A

Heterozygous

0.014283 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.183853071C>G

ClinVar: NM_003907.3(EIF2B5): c.-103C>G

Heterozygous

0.014787 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.152285077_152285080del

ClinVar: NM_002016.1(FLG): c.2282_2285delCAGT (p.Ser761Cysfs)

Heterozygous

0.015191
Disease: Ichthyosis vulgaris
Inheritance: recessive
Significance: causal
Evidence: reported
Clinvar records: Pathogenic: Ichthyosis vulgaris
Notes:

Reported to cause ichthyosis vulgaris by Smith et al, 2006, a relatively common skin disorder that affects 1 in 300 people and causes dry, scaly skin.

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Disease: Atopic dermatitis
Inheritance: additive
Significance: risk factor
Evidence: reported
Clinvar records: risk factor: Dermatitis, atopic, 2, susceptibility to
Uncertain significance:
Notes:

Reported to increase risk for atopic dermatitis (eczema), allergic sensitization, and asthma by Weidinger et al. 2006 and Marenholz et al. 2006.

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Clinvar entries without associated notes:

chr6:g.43587991G>A

ClinVar: NM_006502.2(POLH): c.*5697G>A

Heterozygous

0.016202 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.40696233C>A

ClinVar: NM_000263.3(NAGLU): c.2209C>A (p.Arg737Ser)

Heterozygous

0.017534 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.172631512G>A

ClinVar: NM_031955.5(SPATA16): c.1526C>T (p.Ala509Val)

Heterozygous

0.019167 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.240897186C>T

ClinVar: NM_004544.3(NDUFA10): c.*3349G>A

Heterozygous

0.023545 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.61275771C>G

ClinVar: NM_002618.3(PEX13): c.1078C>G (p.Leu360Val)

Heterozygous

0.025634 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.57484980G>A

ClinVar: NM_020312.3(COQ9): c.102G>A (p.Pro34=)

Heterozygous

0.025976 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.66299936G>C

ClinVar: NM_024649.4(BBS1): c.*428G>C

Heterozygous

0.027238 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.51061199G>T

ClinVar: NM_000487.5(ARSA): c.*2374C>A

Heterozygous

0.027631 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.51063070T>C

ClinVar: NM_000487.5(ARSA): c.*503A>G

Heterozygous

0.027692 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.51066343G>C

ClinVar: NM_000487.5(ARSA): c.-136C>G

Heterozygous

0.027830 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.179526214C>T

ClinVar: NM_014625.3(NPHS2): c.686G>A (p.Arg229Gln)

Heterozygous

0.028540 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.17983059C>T

ClinVar: NM_000453.2(SLC5A5): c.-70C>T

Heterozygous

0.028580 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.18054453G>A

ClinVar: NM_016239.3(MYO15A): c.7503G>A (p.Thr2501=)

Heterozygous

0.030774 Clinvar entries without associated notes:

chr1:g.158624528G>T

ClinVar: NM_003126.3(SPTA1): c.2909C>A (p.Ala970Asp)

Heterozygous

0.031674 Clinvar entries without associated notes:

chr22:g.41325790C>T

ClinVar: NM_022098.3(XPNPEP3): c.*3351C>T

Heterozygous

0.032634 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.41327000G>A

ClinVar: NM_022098.3(XPNPEP3): c.*4561G>A

Heterozygous

0.032671 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.47130814G>A

ClinVar: NM_139279.5(MCFD2): c.*1788C>T

Heterozygous

0.033790 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.36316710T>C

ClinVar: NM_004646.3(NPHS1): c.*706A>G

Heterozygous

0.036750 Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.79664529A>G

ClinVar: NM_001330195.1(NRXN3): c.3262+210045A>G

Heterozygous

0.038288 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.88506374C>A

ClinVar: NM_001127464.2(ZNF469): c.*634C>A

Heterozygous

0.039469 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.28230318C>T

ClinVar: NM_000275.2(OCA2): c.1256G>A (p.Arg419Gln)

Homozygous

0.043783 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.207013835del

ClinVar: NM_005006.6(NDUFS1): c.262-15delT

Heterozygous

0.045054 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.51063477T>C

ClinVar: NM_000487.5(ARSA): c.*96A>G

Heterozygous

0.045925
Trait: Metachromatic leukodystrophy pseudodeficiency
Inheritance: recessive
Significance: causal
Evidence: reported
Clinvar records: Pathogenic: Arylsulfatase A pseudodeficiency
Benign, other: not provided
Conflicting interpretations of pathogenicity, other: Metachromatic leukodystrophy (MLD)
Benign: not specified
Notes:

Individuals homozygous for this variant are reported to have a "pseudodeficiency". Blood testing of arylsulfatase A finds reduced activity: this is seen in metachromatic leukodystrophy patients, but these "pseudodeficiency" individuals are healthy and it has no known affect on health or traits.

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chr12:g.56082025G>C

ClinVar: NM_002206.2(ITGA7): c.3018C>G (p.Ser1006=)

Heterozygous

0.047831 Clinvar entries without associated notes: Add effect notes to GenNotes

chr9:g.125132522A>G

ClinVar: NM_000962.3(PTGS1): c.-842A>G

Heterozygous

0.054110 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.89815152G>A

ClinVar: NM_000135.2(FANCA): c.3263C>T (p.Ser1088Phe)

Homozygous

0.055774 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.227660544C>T

ClinVar: NM_005544.2(IRS1): c.2911G>A (p.Gly971Arg)

Heterozygous

0.059897 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.116662407G>C

ClinVar: NM_052968.4(APOA5): c.56C>G (p.Ser19Trp)

Heterozygous

0.061272 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.18258370G>A

ClinVar: NM_000015.2(NAT2): c.857G>A (p.Gly286Glu)

Heterozygous

0.077280
Trait: Slow acetylation
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: drug response: Slow acetylator due to N-acetyltransferase enzyme variant
Notes:

Slow acetylation by N-acetyltransferase 2 may affect drug response and physiological responses to other molecules.

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chr2:g.86709231_86709234del

ClinVar: NM_001146688.1(KDM3A): c.2685+6_2685+9delTGTT

Heterozygous

0.078076 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.89328335T>C

ClinVar: NC_000012.12: g.88934558T>C

Heterozygous

0.082788 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.138417791A>G

ClinVar: NM_020632.2(ATP6V0A4): c.1739T>C (p.Met580Thr)

Heterozygous

0.087719 Clinvar entries without associated notes:

chr8:g.11612842G>A

ClinVar: NM_002052.4(GATA4): c.997+200G>A

Heterozygous

0.090381 Clinvar entries without associated notes: Add effect notes to GenNotes

chr20:g.3193893A>C

ClinVar: NM_033453.3(ITPA): c.124+21A>C

Heterozygous

0.095637 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.169696946G>A

ClinVar: NM_000450.2(SELE): c.1402C>T (p.His468Tyr)

Homozygous

0.107747 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.16170568C>T

ClinVar: NM_004996.3(ABCC1): c.1988+310C>T

Heterozygous

0.110033 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.16171148G>T

ClinVar: NM_004996.3(ABCC1): c.1988+890G>T

Heterozygous

0.110217 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.27373865G>A

ClinVar: NM_001979.5(EPHX2): c.860G>A (p.Arg287Gln)

Heterozygous

0.111521 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.30252352G>T

ClinVar: NM_000510.2(FSHB): c.-280G>T

Heterozygous

0.113285 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.90749256G>A

ClinVar: NM_000043.5(FAS): c.-1378G>A

Heterozygous

0.114213 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.73942678C>T

ClinVar: NM_032217.4(ANKRD17): c.7731G>A (p.Thr2577=)

Heterozygous

0.118054 Clinvar entries without associated notes: Add effect notes to GenNotes

chr9:g.86909550G>A

ClinVar: NM_001199633.1(SLC28A3): c.862-360C>T

Heterozygous

0.118482 Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.88442712C>T

ClinVar: NM_000153.3(GALC): c.742G>A (p.Asp248Asn)

Heterozygous

0.119501 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.46399208G>A

ClinVar: NM_001123041.2(CCR2): c.190G>A (p.Val64Ile)

Heterozygous

0.120471 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.69824024C>T

ClinVar: NC_000012.12: g.69430244C>T

Heterozygous

0.120968
Disease:
Inheritance: other/unknown
Significance: causal
Evidence: reported
Notes:

View/edit on GenNotes
Clinvar entries without associated notes:

chr12:g.40757330A>G

ClinVar: NM_198578.3(LRRK2): c.7155A>G (p.Gly2385=)

Heterozygous

0.121135 Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.94849201C>T

ClinVar: NM_001127701.1(SERPINA1): c.374G>A (p.Arg125His)

Heterozygous

0.121898 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.63131731G>A

ClinVar: NM_001142615.2(EHBP1): c.1185+30064G>A

Heterozygous

0.122239
Disease: Prostate cancer
Inheritance: additive
Significance: risk factor
Evidence: reported
Clinvar records: Pathogenic: Prostate cancer, hereditary, 12 (HPC12)
Notes:

A genome-wide association study by Gudmundsson, et al. 2008 found this variant associated with increased prostate cancer risk in their population (potentially representing an increased lifetime risk of 1 to 2%). Other publications have also examined this variant's association with prostate cancer. A meta-analysis that combined these data by Ao et al. 2015 concluded there was strong evidence for an increased risk association. Most studies did not segregate the effect in heterozygous vs homozygous individuals, but Gudmundsson et al.'s report seemed to indicate the effect is additive.

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chr17:g.43911525C>T

ClinVar: NM_001145146.1(CRHR1): c.1194+111C>T

Heterozygous

0.122450 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.4836381C>T

ClinVar: NM_000173.6(GP1BA): c.482C>T (p.Thr161Met)

Heterozygous

0.122947 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.183699584G>C

ClinVar: NM_001463.3(FRZB): c.970C>G (p.Arg324Gly)

Heterozygous

0.127606 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.10313448C>G

ClinVar: NM_002543.3(OLR1): c.501G>C (p.Lys167Asn)

Heterozygous

0.128022 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.45360730T>C

ClinVar: NM_000212.2(ITGB3): c.176T>C (p.Leu59Pro)

Heterozygous

0.131786
Disease: Posttransfusion purpura (PTP)
Inheritance: recessive
Significance: risk factor
Evidence: well-established
Clinvar records: Benign: PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM
:
Notes:

This allele is Pl(A2) in the platelet-specific alloantigen system Pl(A). (The reference genome allele is Pl(A1).) Post-transfusion purpura can occur in women who have been pregnant in the past. It seems to be associated with women who don't carry the PI(A1) variant (e.g. homozygous for this variant), and have developed an immune reaction to Pl(A1) – presumably due to exposure to a fetus carrying a copy of Pl(A1).

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Disease: Myocardial infarction
Inheritance: other/unknown
Significance: risk factor
Evidence: reported
Clinvar records: Benign: PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM
risk factor: Myocardial infarction
Notes:

Various groups reported that this variant, PIA2, is associated with increased risk of myocardial infarction (heart attack), including Grove et al, 2004 and Zotz et al, 2005. However these reports are all more than a decade old. The lack of replication in follow-up studies may indicate the variant has little or no affect on MI.

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Disease: Hip fracture
Inheritance: recessive
Significance: risk factor
Evidence: reported
Clinvar records: Benign: PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM
:
Notes:

Tofteng et al. (2007) reported finding an increased risk of hip fractures associated with individuals homozygous for this variant.

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Disease: Neonatal alloimmune thrombocytopenia
Inheritance: recessive
Significance: risk factor
Evidence: well-established
Clinvar records: Benign: PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM
:
Notes:

This allele is "Pl(A2)" or "HPA-1b" in the platelet-specific alloantigen system. The reference genome allele is "Pl(A1)" or "HPA-1a".

Fetuses in mothers who do not have the PI(A1) variant (e.g. homozygous for the this variant) have a risk of neonatal alloimmune thrombocytopenia (also known as NAIT). NAIT can occur when the fetus carries Pl(A1), and the mother does not. An immune response by the mother can cause decreased platelet count in the fetus which can, in turn, cause complications like bleeding, bruising, and intracranial hemorrhage. Peterson et al, 2013 reviews this phenomenon in more detail.

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Clinvar entries without associated notes:

chr2:g.203378399del

ClinVar: NM_001204.6(BMPR2): c.419-43delT

Heterozygous

0.133544 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.231408091A>G

ClinVar: NM_014236.3(GNPAT): c.1556A>G (p.Asp519Gly)

Heterozygous

0.144735 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.11614769C>T

ClinVar: NM_002052.4(GATA4): c.1146+177C>T

Homozygous

0.148594 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.11616836G>A

ClinVar: NM_002052.4(GATA4): c.*852G>A

Homozygous

0.151942 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.35192279A>G

ClinVar: NM_000610.3(CD44): c.68-5843A>G

Heterozygous

0.160100 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.35192214G>A

ClinVar: NM_000610.3(CD44): c.68-5908G>A

Heterozygous

0.160300 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.58270140_58270143del

ClinVar: NM_001104631.1(PDE4D): c.*348_*351delATTT

Heterozygous

0.165003 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.2906707G>T

ClinVar: NM_176801.2(ADD1): c.1378G>T (p.Gly460Trp)

Heterozygous

0.170033 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.113283688C>A

ClinVar: NM_000795.3(DRD2): c.811-83G>T

Heterozygous

0.170533 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.6122009T>A

ClinVar: NC_000010.11: g.6080046T>A

Homozygous

0.173489 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.51064416T>C

ClinVar: NM_000487.5(ARSA): c.1055A>G (p.Asn352Ser)

Heterozygous

0.173797 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.70645376A>C

ClinVar: NM_001130161.2(STOX1): c.1824A>C (p.Glu608Asp)

Heterozygous

0.177394 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.48280656del

ClinVar: NM_000088.3(COL1A1): c.-1782delT

Heterozygous

0.178931 Clinvar entries without associated notes: Add effect notes to GenNotes

chr9:g.86900926G>A

ClinVar: NM_001199633.1(SLC28A3): c.1381C>T (p.Leu461=)

Heterozygous

0.187775 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.121176083G>A

ClinVar: NM_000017.3(ACADS): c.625G>A (p.Gly209Ser)

Heterozygous

0.201614 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.27374180T>C

ClinVar: NM_000418.3(IL4R): c.1507T>C (p.Ser503Pro)

Heterozygous

0.201700 Clinvar entries without associated notes: Add effect notes to GenNotes

chr20:g.23618427C>T

ClinVar: NM_000099.3(CST3): c.73G>A (p.Ala25Thr)

Heterozygous

0.205317
Disease: Exudative age-related macular degeneration
Inheritance: recessive
Significance: risk factor
Evidence: reported
Clinvar records: Pathogenic: Age-related macular degeneration 11 (ARMD11)
Notes:

Reported to be associated with an increased risk of exudative age-related macular degeneration by Butler, et al. 2015 and (Zurdel, et al. 2002)[http://www.ncbi.nlm.nih.gov/pubmed/11815350/). Butler et al. report this effect was only found homozygous individuals, not heterozygous carriers (i.e. in a recessive manner).

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Disease: Alzheimer's disease
Inheritance: recessive
Significance: risk factor
Evidence: reported
Notes:

Hua et al., 2014 report this has been associated with increased risk of Alzheimer's disease (AD) by a couple different studies. Butler et al., 2015 reported the effect seems to be recessive, only finding homozygous individuals had increased AD risk.

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chr16:g.69745145G>A

ClinVar: NM_000903.2(NQO1): c.559C>T (p.Pro187Ser)

Heterozygous

0.206560 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.15990431C>T

ClinVar: NM_001082.4(CYP4F2): c.1297G>A (p.Val433Met)

Heterozygous

0.208331 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.179296666T>C

ClinVar: NM_003690.4(PRKRA): c.*158A>G

Heterozygous

0.212351 Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.94844843T>G

ClinVar: NM_001127701.1(SERPINA1): c.1200A>C (p.Glu400Asp)

Heterozygous

0.213165 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.12296255G>T

ClinVar: NM_001955.4(EDN1): c.594G>T (p.Lys198Asn)

Heterozygous

0.213417 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.88911696C>A

ClinVar: NM_000372.4(TYR): c.575C>A (p.Ser192Tyr)

Homozygous

0.215737 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.44324727C>G

ClinVar: NM_025225.2(PNPLA3): c.444C>G (p.Ile148Met)

Homozygous

0.216961 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.6318795C>A

ClinVar: NM_000129.3(F13A1): c.103G>T (p.Val35Leu)

Heterozygous

0.217367 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.74219582G>A

ClinVar: NM_005576.3(LOXL1): c.458G>A (p.Gly153Asp)

Heterozygous

0.217884 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.109817590G>T

ClinVar: NM_001408.2(CELSR2): c.*919G>T

Heterozygous

0.220288
Trait: Influence LDL cholesterol level
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: association: Low density lipoprotein cholesterol level quantitative trait locus 6 (LDLCQ6)
Notes:

User Submitted Lab Results:

Age 36: LDL cholesterol: 71 (reference range 0 to 99 mg/ DL) <br /> VLDL cholesterol Cal.: 10 (reference range 5 to 40 mg /DL) Total cholesterol: 154 non-fasting (reference range 100 to 199 mg / DL)

Age 37: LDL cholesterol same as above Total cholesterol: 168 non-fasting (reference range 100 to 199 mg / DL)

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chr6:g.31114182A>G

ClinVar: NM_001105564.1(CCHCR1): c.1581-597T>C

Heterozygous

0.220400 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.154360797A>G

ClinVar: NM_001008503.2(OPRM1): c.118A>G (p.Asn40Asp)

Heterozygous

0.223400 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.241531174G>A

ClinVar: NM_023083.3(CAPN10): c.471-176G>A

Heterozygous

0.225678 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.20365654A>G

ClinVar: NM_003361.3(UMOD): c.-1746T>C

Heterozygous

0.226079 Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.21790040G>T

ClinVar: NM_020366.3(RPGRIP1): c.1639G>T (p.Ala547Ser)

Homozygous

0.226643 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.135426573A>G

ClinVar: NC_000006.12: g.135105435A>G

Heterozygous

0.227878
Disease:
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: Likely pathogenic: Fetal hemoglobin quantitative trait locus 2 (HBFQTL2)
Notes:

View/edit on GenNotes

chr16:g.53800954T>C

ClinVar: NM_001080432.2(FTO): c.46-43098T>C

Heterozygous

0.228600 Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.57851097T>C

ClinVar: NC_000018.10: g.60183864T>C

Heterozygous

0.228909 Clinvar entries without associated notes: Add effect notes to GenNotes

chr20:g.7912942C>G

ClinVar: NM_017545.2(HAO1): c.289+2189G>C

Heterozygous

0.234271 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.187004074C>T

ClinVar: NM_003265.2(TLR3): c.1234C>T (p.Leu412Phe)

Homozygous

0.238243 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.114808902G>T

ClinVar: NM_030756.4(TCF7L2): c.483+9017G>T

Heterozygous

0.241315 Clinvar entries without associated notes: Add effect notes to GenNotes

chr20:g.7885184C>G

ClinVar: NM_017545.2(HAO1): c.721+1617G>C

Heterozygous

0.241472 Clinvar entries without associated notes: Add effect notes to GenNotes

chr20:g.7909166G>A

ClinVar: NM_017545.2(HAO1): c.289+5965C>T

Heterozygous

0.242623 Clinvar entries without associated notes: Add effect notes to GenNotes

chr20:g.7899928T>C

ClinVar: NM_017545.2(HAO1): c.290-4862A>G

Heterozygous

0.243209 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.154548880G>A

ClinVar: NM_000748.2(CHRNB2): c.*472G>A

Heterozygous

0.251247 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.114758349C>T

ClinVar: NM_030756.4(TCF7L2): c.382-41435C>T

Heterozygous

0.254192 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.113270828G>A

ClinVar: NM_178510.1(ANKK1): c.2137G>A (p.Glu713Lys)

Heterozygous

0.258592 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.11854476T>G

ClinVar: NM_005957.4(MTHFR): c.1286A>C (p.Glu429Ala)

Heterozygous

0.258962
Trait: MTHFR deficiency risk for elevated homocysteine levels
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: Benign: MTHFR deficiency, thermolabile type
Notes:

Treatment Outcome in support of cause /effect relationship : (Prior to any supplementation) my blood test showed a homocysteine level at 10 (reference range 0 to 15 =normal). So it was still within normal range, however, choosing to attempt to reduce this further, I began to supplement with methylfolate and reduced glutathione sublingual spray (once per day) and successfully significantly lowered my homocysteine level (current range with supplementation has been lowered to between 0 and 2).

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Clinvar entries without associated notes:

chr6:g.102466397C>T

ClinVar: NM_021956.4(GRIK2): c.2086-16819C>T

Homozygous

0.263000 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.118184783C>T

ClinVar: NM_001172813.1(SLC30A8): c.826C>T (p.Arg276Trp)

Heterozygous

0.265422 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.45912736C>A

ClinVar: NM_001983.3(ERCC1): c.*197G>T

Heterozygous

0.265667 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.139884509C>T

ClinVar: NM_152888.2(COL22A1): c.658+5484G>A

Heterozygous

0.273939 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.226019633T>C

ClinVar: NM_001136018.3(EPHX1): c.337T>C (p.Tyr113His)

Heterozygous

0.278392 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.68855363G>A

ClinVar: NM_139075.3(TPCN2): c.2201G>A (p.Gly734Glu)

Heterozygous

0.281682 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.41512792C>T

ClinVar: NM_000767.5(CYP2B6): c.485-18C>T

Heterozygous

0.282380 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.53712727C>T

ClinVar: NM_004631.4(LRP8): c.2855G>A (p.Arg952Gln)

Heterozygous

0.286167 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.39734923A>G

ClinVar: NM_172139.3(IFNL3): c.259-126T>C

Homozygous

0.286655 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.74219546G>T

ClinVar: NM_005576.3(LOXL1): c.422G>T (p.Arg141Leu)

Heterozygous

0.288985 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.203194186C>T

ClinVar: NM_003465.2(CHIT1): c.304G>A (p.Gly102Ser)

Heterozygous

0.290900 Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.104165753G>A

ClinVar: NM_001100119.1(XRCC3): c.722C>T (p.Thr241Met)

Heterozygous

0.290983 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.182554557C>T

ClinVar: NM_021133.3(RNASEL): c.1385G>A (p.Arg462Gln)

Heterozygous

0.295132 Clinvar entries without associated notes: Add effect notes to GenNotes

chr13:g.110435231C>T

ClinVar: NM_003749.2(IRS2): c.3170G>A (p.Gly1057Asp)

Homozygous

0.295455 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.13007458C>T

ClinVar: NM_000159.3(GCDH): c.852+223C>T

Heterozygous

0.298031 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.50747539G>C

ClinVar: NM_000124.3(ERCC6): c.-546C>G

Heterozygous

0.299346 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.154426970A>C

ClinVar: NM_000565.3(IL6R): c.1073A>C (p.Asp358Ala)

Homozygous

0.304372 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.69202580T>G

ClinVar: NM_002392.5(MDM2): c.14+309T>G

Heterozygous

0.305732 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.9323910G>A

ClinVar: NM_004285.3(H6PD): c.1358G>A (p.Arg453Gln)

Heterozygous

0.310017 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.45673029T>C

ClinVar: NM_001321015.1(GATM): c.-394-272A>G

Heterozygous

0.316521 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.11616410C>T

ClinVar: NM_002052.4(GATA4): c.*426C>T

Homozygous

0.318612 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.91527451T>A

ClinVar: NM_003981.3(PRC1): c.145-81A>T

Heterozygous

0.319869 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.241817322C>T

ClinVar: NM_000030.2(AGXT): c.943-117C>T

Heterozygous

0.321677 Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.57882787C>A

ClinVar: NC_000018.10: g.60215554C>A

Heterozygous

0.324754 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.135376209T>G

ClinVar: NM_006620.3(HBS1L): c.-380A>C

Homozygous

0.325032 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.10588138C>T

ClinVar: NM_002539.2(ODC1): c.-128+109G>A

Heterozygous

0.328450 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.100260789T>C

ClinVar: NM_000669.4(ADH1C): c.1048A>G (p.Ile350Val)

Heterozygous

0.335718 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.100263965C>T

ClinVar: NM_000669.4(ADH1C): c.815G>A (p.Arg272Gln)

Heterozygous

0.336134 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.9232268T>C

ClinVar: NM_000014.5(A2M): c.2998A>G (p.Ile1000Val)

Heterozygous

0.338520 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.69143577A>G

ClinVar: NM_001199280.1(HAS3): c.279A>G (p.Ala93=)

Heterozygous

0.338822 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.610093C>T

ClinVar: NR_103444.1(LOC100996325): n.366+1469G>A

Heterozygous

0.342600 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.57005479C>A

ClinVar: NM_000078.2(CETP): c.658+186C>A

Heterozygous

0.346064 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.204738919G>A

ClinVar: NM_005214.5(CTLA4): c.*1148+236G>A

Homozygous

0.346756 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.67352689A>G

ClinVar: NM_000852.3(GSTP1): c.313A>G (p.Ile105Val)

Heterozygous

0.353742 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.186336176A>G

ClinVar: NM_001622.3(AHSG): c.574-149A>G

Homozygous

0.354768 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.169635010G>A

ClinVar: NM_003247.3(THBS2): c.1478-8C>T

Heterozygous

0.355600 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.31107689C>T

ClinVar: NM_024006.4(VKORC1): c.-1639G>A

Heterozygous

0.355600 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.31104878G>A

ClinVar: NM_024006.5(VKORC1): c.174-136C>T

Heterozygous

0.355800 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.234672639G>T

ClinVar: NM_000463.2(UGT1A1): c.864+2842G>T

Homozygous

0.359257 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.234668570C>T

ClinVar: NM_000463.2(UGT1A1): c.-364C>T

Homozygous

0.364805 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.91525197C>T

ClinVar: NM_003981.3(PRC1): c.282G>A (p.Thr94=)

Heterozygous

0.368263 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.133984058C>T

ClinVar: NM_003235.4(TG): c.5995C>T (p.Arg1999Trp)

Heterozygous

0.368891 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.38650628T>G

ClinVar: NM_006708.2(GLO1): c.332A>C (p.Glu111Ala)

Heterozygous

0.374142 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.27374400A>G

ClinVar: NM_000418.3(IL4R): c.1727A>G (p.Gln576Arg)

Homozygous

0.375400 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.31104509C>G

ClinVar: NM_024006.5(VKORC1): c.283+124G>C

Heterozygous

0.375822 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.39738787C>T

ClinVar: NM_001276254.2(IFNL4): c.151-152G>A

Homozygous

0.377509 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.91530820A>G

ClinVar: NM_003981.3(PRC1): c.12-2765T>C

Heterozygous

0.378139 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.20679709A>G

ClinVar: NM_017774.3(CDKAL1): c.371+30101A>G

Heterozygous

0.382271 Clinvar entries without associated notes: Add effect notes to GenNotes

chr21:g.37518706G>A

ClinVar: NM_001236.3(CBR3): c.730G>A (p.Val244Met)

Heterozygous

0.383569 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.30726777A>T

ClinVar: NM_001202481.1(CRHR2): c.-166-546T>A

Heterozygous

0.383621 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.11615695A>G

ClinVar: NM_002052.4(GATA4): c.1147-107A>G

Homozygous

0.386384 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.46760756G>A

ClinVar: NM_000506.4(F2): c.1726-59G>A

Heterozygous

0.387293 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.91523036C>T

ClinVar: NM_003981.3(PRC1): c.970+436G>A

Heterozygous

0.388048 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.35221862T>A

ClinVar: NM_000610.3(CD44): c.923-767T>A

Heterozygous

0.388200 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.78888400G>A

ClinVar: NM_001166694.1(CHRNA3): c.1390-2867C>T

Homozygous

0.389169 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.31540784C>A

ClinVar: NM_001159740.2(LTA): c.179C>A (p.Thr60Asn)

Heterozygous

0.389600
Disease:
Inheritance: other/unknown
Significance: causal
Evidence: reported
Notes:

View/edit on GenNotes
Clinvar entries without associated notes:

chr6:g.31540313A>G

ClinVar: NM_001159740.2(LTA): c.-9-198A>G

Heterozygous

0.389800
Disease:
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: risk factor: Psoriatic arthritis, susceptibility to (PSORAS1)
Notes:

View/edit on GenNotes
Clinvar entries without associated notes:

chr16:g.16170615G>T

ClinVar: NM_004996.3(ABCC1): c.1988+357G>T

Heterozygous

0.392258 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.69462910G>A

ClinVar: NM_053056.2(CCND1): c.723G>A (p.Pro241=)

Homozygous

0.396611 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.18257795C>T

ClinVar: NM_000015.2(NAT2): c.282C>T (p.Tyr94=)

Heterozygous

0.397400 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.20661034A>C

ClinVar: NM_017774.3(CDKAL1): c.371+11426A>C

Heterozygous

0.405400 Clinvar entries without associated notes: Add effect notes to GenNotes

chr20:g.7106289T>C

ClinVar: NC_000020.11: g.7125642T>C

Heterozygous

0.409479 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.160113872A>G

ClinVar: NM_001024465.2(SOD2): c.47T>C (p.Val16Ala)

Homozygous

0.410700
Disease:
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: risk factor: Microvascular complications of diabetes 6 (MVCD6)
Notes:

View/edit on GenNotes
Clinvar entries without associated notes:

chr2:g.136608646G>A

ClinVar: NM_002299.2(LCT): c.-13907C>T

Homozygous

0.411179
Trait: Lactase persistence
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: association: Lactase persistence
Notes:

Reporting supporting evidence - adult lactase production is observed in all 3 family members with this variant

View/edit on GenNotes

chr2:g.136616754C>T

ClinVar: NM_005915.5(MCM6): c.1362+117G>A

Homozygous

0.414926
Trait: Lactase persistence
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: association: Lactase persistence
Notes:

Confirmed: lactose tolerant as an adult ( still able to digest milk completely without complications)

View/edit on GenNotes

chr16:g.31102321C>T

ClinVar: NM_024006.5(VKORC1): c.*134G>A

Heterozygous

0.419700 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.49206674G>A

ClinVar: NM_000511.5(FUT2): c.461G>A (p.Trp154Ter)

Homozygous

0.422822 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.18325146C>T

ClinVar: NM_181507.1(HPS5): c.896+1823G>A

Heterozygous

0.428798 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.45620985C>T

ClinVar: NC_000015.10: g.45328787C>T

Heterozygous

0.429155 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.6954875C>T

ClinVar: NM_002075.3(GNB3): c.825C>T (p.Ser275=)

Heterozygous

0.430953 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.74648603A>T

ClinVar: NM_000859.2(HMGCR): c.1368+1176A>T

Homozygous

0.435700 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.19951271G>A

ClinVar: NM_000754.3(COMT): c.472G>A (p.Val158Met)

Heterozygous

0.447522 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.241815473G>A

ClinVar: NM_000030.2(AGXT): c.846+52G>A

Heterozygous

0.453324 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.35191445C>G

ClinVar: NM_000610.3(CD44): c.68-6677C>G

Heterozygous

0.453500 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.120663363T>C

ClinVar: NM_014619.4(GRIK4): c.83-10039T>C

Heterozygous

0.455166 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.7870973A>G

ClinVar: NM_002454.2(MTRR): c.66A>G (p.Ile22Met)

Homozygous

0.460708 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.57870155A>C

ClinVar: NM_032496.3(ARHGAP9): c.1108T>G (p.Ser370Ala)

Heterozygous

0.461753 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.91509592T>C

ClinVar: NM_003981.3(PRC1): c.*769A>G

Heterozygous

0.462273 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.128578301G>T

ClinVar: NM_001098629.2(IRF5): c.-12+198G>T

Heterozygous

0.470331 Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.55222475T>C

ClinVar: NM_015589.5(SAMD4A): c.1176+4220T>C

Homozygous

0.477745 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.202097532_202097537del

ClinVar: NM_001228.4(CASP8): c.-937_-932del

Heterozygous

0.478708 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.46411935A>G

ClinVar: NM_000579.3(CCR5): c.-301+246A>G

Heterozygous

0.479920 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.186336027T>G

ClinVar: NM_001622.3(AHSG): c.574-298T>G

Homozygous

0.481743 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.108283161C>A

ClinVar: NM_152587.3(C11orf65): c.175-5285G>T

Heterozygous

0.482490 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.34818113A>T

ClinVar: NM_207173.1(NPSR1): c.320A>T (p.Asn107Ile)

Heterozygous

0.486658 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.198796120C>T

ClinVar: NR_040073.1(MIR181A1HG): n.364-18748G>A

Heterozygous

0.486863 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.63258565C>G

ClinVar: NM_000524.3(HTR1A): c.-1019G>C

Heterozygous

0.487053 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.24825511C>T

ClinVar: NM_000675.5(ADORA2A): c.-275+1797C>T

Homozygous

0.487109 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.166909544C>T

ClinVar: NM_006920.4(SCN1A): c.603-91G>A

Homozygous

0.492283 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.3707747G>A

ClinVar: NM_005223.3(DNASE1): c.731G>A (p.Arg244Gln)

Heterozygous

0.494200 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.1296486A>G

ClinVar: NM_198253.2(TERT): c.-1382T>C

Heterozygous

0.497638 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.103418158A>G

ClinVar: NC_000011.10: g.103547430A>G

Homozygous

0.504150 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.110834110A>G

ClinVar: NM_001963.5(EGF): c.-382A>G

Heterozygous

0.505795 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.161479745A>G

ClinVar: NM_021642.3(FCGR2A): c.497A>G (p.His166Arg)

Homozygous

0.506802 Clinvar entries without associated notes: Add effect notes to GenNotes

chr21:g.46957794T>C

ClinVar: NM_194255.2(SLC19A1): c.80A>G (p.His27Arg)

Heterozygous

0.511293 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.1286516C>A

ClinVar: NM_198253.2(TERT): c.1574-3777G>T

Heterozygous

0.526184 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.179616771del

ClinVar: NM_133379.4(TTN): c.10361-5delT

Hemizygous

0.526200 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.114807047G>C

ClinVar: NM_030756.4(TCF7L2): c.483+7162G>C

Heterozygous

0.528133 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.21329738A>G

ClinVar: NM_006446.4(SLCO1B1): c.388A>G (p.Asn130Asp)

Heterozygous

0.530727 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.91517780G>C

ClinVar: NM_003981.3(PRC1): c.1350+35C>G

Heterozygous

0.530817 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.184071063G>C

ClinVar: NM_004366.5(CLCN2): c.2003C>G (p.Thr668Ser)

Heterozygous

0.530966 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.69536084A>C

ClinVar: NM_001076.3(UGT2B15): c.253T>G (p.Tyr85Asp)

Homozygous

0.538526 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.35192629C>T

ClinVar: NM_000610.3(CD44): c.68-5493C>T

Heterozygous

0.539900 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.45923653A>G

ClinVar: NM_202001.2(ERCC1): c.354T>C (p.Asn118=)

Heterozygous

0.542497 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.93055753A>G

ClinVar: NM_001164737.1(CALCR): c.1442T>C (p.Leu481Pro)

Heterozygous

0.543500 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.18290859C>T

ClinVar: NM_000331.5(SAA1): c.209C>T (p.Ala70Val)

Homozygous

0.546372 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.17662639T>C

ClinVar: NM_012387.2(PADI4): c.341-15T>C

Homozygous

0.552178 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.28365618A>G

ClinVar: NM_004667.5(HERC2): c.13272+874T>C

Heterozygous

0.558074 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.91511260A>G

ClinVar: NM_003981.3(PRC1): c.1792-828T>C

Heterozygous

0.559286 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.87138645A>G

ClinVar: NM_000927.4(ABCB1): c.3435T>C (p.Ile1145=)

Homozygous

0.561367 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.147574390A>G

ClinVar: NM_014141.5(CNTNAP2): c.2099-26267A>G

Homozygous

0.562391 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.160807715T>C

ClinVar: NM_016382.3(CD244): c.834+526A>G

Homozygous

0.563322 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.113594387G>A

ClinVar: NM_000576.2(IL1B): c.-118C>T

Heterozygous

0.563876 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.149721690G>A

ClinVar: NM_001002255.1(SUMO4): c.163G>A (p.Val55Met)

Heterozygous

0.573775
Disease:
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: risk factor: Diabetes mellitus, insulin-dependent, 5 (IDDM5)
Notes:

View/edit on GenNotes

chr16:g.31110981G>A

ClinVar: NG_011564.1: g.296C>T

Heterozygous

0.574455 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.128589427G>A

ClinVar: NM_001098629.2(IRF5): c.*555G>A

Heterozygous

0.581172 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.179858444G>A

ClinVar: NM_001267578.1(TOR1AIP1): c.554-1G>A

Homozygous

0.582465 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.1095281A>G

ClinVar: NM_001131034.3(RNF212): c.172-4654T>C

Homozygous

0.585419 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.201081943C>T

ClinVar: NM_000069.2(CACNA1S): c.-476G>A

Heterozygous

0.588900 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.70641860T>C

ClinVar: NM_001130161.2(STOX1): c.457T>C (p.Tyr153His)

Heterozygous

0.590076 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.65494212A>G

ClinVar: NM_003613.3(CILP): c.1184T>C (p.Ile395Thr)

Homozygous

0.592412 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.133909974A>G

ClinVar: NM_003235.4(TG): c.3082A>G (p.Met1028Val)

Homozygous

0.595608 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.133900252T>G

ClinVar: NM_003235.4(TG): c.2200T>G (p.Ser734Ala)

Homozygous

0.596032 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.74222202T>C

ClinVar: NM_005576.3(LOXL1): c.1102+1976T>C

Homozygous

0.602041 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.234580454del

ClinVar: NM_021027.2(UGT1A9): c.-127delT

Hemizygous

0.608018 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.16169566C>T

ClinVar: NM_004996.3(ABCC1): c.1913-617C>T

Heterozygous

0.609342 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.154072020T>C

ClinVar: NM_001039350.2(DPP6): c.52-71279T>C

Homozygous

0.612054 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.100317298C>A

ClinVar: NM_000799.3(EPO): c.-1306C>A

Heterozygous

0.613932 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.11612698C>A

ClinVar: NM_002052.4(GATA4): c.997+56C>A

Heterozygous

0.619317 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.84192168G>C

ClinVar: NM_015697.8(COQ2): c.779-1022C>G

Homozygous

0.628732 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.69389217C>G

ClinVar: NM_052958.3(C8orf34): c.736+8162C>G

Heterozygous

0.637085 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.87160618A>C

ClinVar: NM_000927.4(ABCB1): c.2677T>G (p.Ser893Ala)

Heterozygous

0.637300 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.60720246C>T

ClinVar: NM_018014.3(BCL11A): c.386-24278G>A

Homozygous

0.639634 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.31103796A>G

ClinVar: NM_024006.5(VKORC1): c.283+837T>C

Heterozygous

0.642200 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.28530182C>T

ClinVar: NM_004667.5(HERC2): c.323-4749G>A

Heterozygous

0.643007 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.100513588_100513593del

ClinVar: NM_139057.3(ADAMTS17): c.*1014_*1019delAGCCCA

Heterozygous

0.645229 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.48272895A>G

ClinVar: NM_001017535.1(VDR): c.2T>C (p.Met1Thr)

Heterozygous

0.648259 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.28513364T>C

ClinVar: NM_004667.5(HERC2): c.1598+247A>G

Heterozygous

0.648679 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.14187449G>T

ClinVar: NM_004628.4(XPC): c.2815C>A (p.Gln939Lys)

Heterozygous

0.655551 Clinvar entries without associated notes: Add effect notes to GenNotes

chr13:g.47411985A>G

ClinVar: NM_000621.4(HTR2A): c.614-2211T>C

Heterozygous

0.655894 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.33682737G>T

ClinVar: NM_170672.2(RASGRP3): c.-261+9727G>T

Heterozygous

0.662115 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.51502844A>C

ClinVar: NM_031226.2(CYP19A1): c.*161T>G

Homozygous

0.664300 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.41515702T>C

ClinVar: NM_000767.5(CYP2B6): c.823-197T>C

Heterozygous

0.665824 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.27730940T>C

ClinVar: NM_001486.3(GCKR): c.1337T>C (p.Leu446Pro)

Heterozygous

0.675811 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.206946407T>G

ClinVar: NM_000572.3(IL10): c.-627A>C

Homozygous

0.685120 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.115805056G>C

ClinVar: NM_000684.2(ADRB1): c.1165G>C (p.Gly389Arg)

Homozygous

0.697396 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.43738350C>G

ClinVar: NM_001025366.2(VEGFA): c.-94C>G

Homozygous

0.697659
Disease:
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: risk factor: Microvascular complications of diabetes 1 (MVCD1)
Notes:

View/edit on GenNotes

chr2:g.109527087G>A

ClinVar: NM_022336.3(EDAR): c.731-99C>T

Heterozygous

0.702909 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.17409572T>C

ClinVar: NM_000525.3(KCNJ11): c.67A>G (p.Lys23Glu)

Heterozygous

0.708101 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.198867678G>T

ClinVar: NR_040073.1(MIR181A1HG): n.363+1862C>A

Heterozygous

0.719888 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.44055726T>C

ClinVar: NM_006297.2(XRCC1): c.1196A>G (p.Gln399Arg)

Heterozygous

0.719960 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.198868084G>A

ClinVar: NR_040073.1(MIR181A1HG): n.363+1456C>T

Heterozygous

0.720161 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.155254145T>C

ClinVar: NM_001427.3(EN2): c.686-921T>C

Homozygous

0.720241 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.155253993G>A

ClinVar: NM_001427.3(EN2): c.686-1073G>A

Homozygous

0.720553 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.109522720G>A

ClinVar: NM_022336.3(EDAR): c.1024+44C>T

Heterozygous

0.727551 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.156213257G>A

ClinVar: NM_199173.5(BGLAP): c.*304G>A

Homozygous

0.729014 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.198869514T>C

ClinVar: NR_040073.1(MIR181A1HG): n.363+26A>G

Heterozygous

0.738485 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.131995964A>G

ClinVar: NM_002188.2(IL13): c.431A>G (p.Gln144Arg)

Homozygous

0.748851 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.18900750G>A

ClinVar: NM_001195226.1(PRODH): c.1417C>T (p.Leu473=)

Heterozygous

0.752436 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.78956432T>C

ClinVar: NM_000959.3(PTGFR): c.-562T>C

Heterozygous

0.764567 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.43582056T>C

ClinVar: NM_020975.5(RET): c.73+9277T>C

Heterozygous

0.774073
Disease:
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: risk factor: Hirschsprung disease 1 (HSCR1)
risk factor: Hirschsprung disease (HSCR)
Notes:

View/edit on GenNotes
Clinvar entries without associated notes:

chr3:g.50649499A>T

ClinVar: NM_013324.5(CISH): c.-524T>A

Homozygous

0.775558 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.35669983A>G

ClinVar: NM_001145775.2(FKBP5): c.-20+18122T>C

Homozygous

0.778000
Disease:
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: drug response: fluoxetine response - Efficacy
drug response: Selective serotonin reuptake inhibitors response - Efficacy
drug response: mirtazapine response - Efficacy
drug response: antidepressants response - Efficacy
drug response: venlafaxine response - Efficacy
drug response: paroxetine response - Efficacy
drug response: citalopram response - Efficacy
Notes:

View/edit on GenNotes

chr1:g.203155882G>C

ClinVar: NM_001276.2(CHI3L1): c.-131C>G

Homozygous

0.785500 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.164007820A>G

ClinVar: NC_000004.12: g.163086668A>G

Heterozygous

0.785737 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.99382096C>T

ClinVar: NM_017460.5(CYP3A4): c.-392G>A

Homozygous

0.791650 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.241815308A>G

ClinVar: NM_000030.2(AGXT): c.777-44A>G

Heterozygous

0.793193 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.46672943A>G

ClinVar: NM_001168357.1(PLA2G7): c.1136T>C (p.Val379Ala)

Heterozygous

0.793418 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.114415368G>C

ClinVar: NM_015967.6(PTPN22): c.-1123C>G

Homozygous

0.794711 Clinvar entries without associated notes: Add effect notes to GenNotes

chr13:g.95714976C>T

ClinVar: NM_005845.4(ABCC4): c.3348G>A (p.Lys1116=)

Homozygous

0.796717 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.166574246G>A

ClinVar: NM_003181.3(TBXT): c.1034+79C>T

Homozygous

0.797300 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.42853059del

ClinVar: NM_153026.2(PRICKLE1): c.*552delA

Heterozygous

0.803728 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.11606312T>C

ClinVar: NM_002052.4(GATA4): c.617-116T>C

Heterozygous

0.813458 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.1078187G>A

ClinVar: NM_001131034.3(RNF212): c.362+1497C>T

Hemizygous

0.825905 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.9994215C>T

ClinVar: NM_001001290.1(SLC2A9): c.323+4190G>A

Homozygous

0.836971 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.16177687G>A

ClinVar: NM_004996.3(ABCC1): c.2292+288G>A

Homozygous

0.845957 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.10251445C>G

ClinVar: NM_016511.3(CLEC1A): c.77G>C (p.Gly26Ala)

Heterozygous

0.847123 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.6355212_6355213insA

ClinVar: NM_031220.3(PITPNM3): c.*3445_*3446insT

Homozygous

0.859765 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.61690321A>G

ClinVar: NM_017780.3(CHD7): c.1666-3238A>G

Homozygous

0.860600 Clinvar entries without associated notes: Add effect notes to GenNotes

chr9:g.37429661A>G

ClinVar: NM_012203.1(GRHPR): c.494-68A>G

Homozygous

0.862999 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.42454494del

ClinVar: NM_000262.2(NAGA): c.*1789delT

Homozygous

0.896600 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.116663707G>A

ClinVar: NM_052968.4(APOA5): c.-644C>T

Homozygous

0.899677 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.109527373A>G

ClinVar: NM_022336.3(EDAR): c.655+30T>C

Heterozygous

0.908130 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.116660686G>A

ClinVar: NM_052968.4(APOA5): c.*158C>T

Homozygous

0.931758 Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.88417096del

ClinVar: NM_000153.3(GALC): c.1162-4delT

Homozygous

0.957824 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.55523033A>G

ClinVar: NM_174936.3(PCSK9): c.1026A>G (p.Gln342=)

Homozygous

0.982935 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.169519049T>C

ClinVar: NM_000130.4(F5): c.1601G= (p.Arg534=)

Homozygous

0.983048 Clinvar entries without associated notes: Add effect notes to GenNotes

chr9:g.34635598T>C

ClinVar: NM_005866.3(SIGMAR1): c.*31A>G

Homozygous

0.988181 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.11221454T>C

ClinVar: NM_000527.4(LDLR): c.1060+7T>C

Homozygous

0.999903 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.148206473G>G

ClinVar: NM_000024.5(ADRB2): c.79C>G (p.Gln27Glu)

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.6320808T>T

ClinVar: NM_000129.3(F13A1): c.-19+12A=

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.31540141A>A

ClinVar: NM_001159740.2(LTA): c.-10+62A=

Heterozygous

Unknown
Disease:
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: risk factor: Leprosy, early-onset, susceptibility to
Notes:

View/edit on GenNotes

chr7:g.116312439C>C

ClinVar: NM_001127500.2(MET): c.-207C=

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.143999600A>A

ClinVar: NM_000498.3(CYP11B2): c.-344T=

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.51549496T>T

ClinVar: NM_002443.3(MSMB): c.-89T=

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.64415184A>A

ClinVar: NM_199452.3(ZNF365): c.184G>A (p.Ala62Thr)

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.10970902G>G

ClinVar: NM_000246.3(CIITA): c.-286G=

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.31107689C>C

ClinVar: NM_024006.5(VKORC1): c.-226-1413G=

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.48277749C>C

ClinVar: NM_000088.3(COL1A1): c.104-441G=

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.46453463T>T

ClinVar: NM_005904.3(SMAD7): c.743-5183A=

Heterozygous

Unknown Clinvar entries without associated notes: Add effect notes to GenNotes