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.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.

View/edit on GenNotes

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).

View/edit on GenNotes
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.

View/edit on GenNotes
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.

View/edit on GenNotes

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

0.015127 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.

View/edit on GenNotes
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.

View/edit on GenNotes
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_004544.4(NDUFA10): c.*3349G>A

Heterozygous

0.023702 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_000487.6(ARSA): c.*2374C>A

Heterozygous

0.027854 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.51063070T>C

ClinVar: NM_000487.6(ARSA): c.*503A>G

Heterozygous

0.027900 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.51066343G>C

ClinVar: NM_000487.6(ARSA): c.-136C>G

Heterozygous

0.028014 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

chr1:g.179526214C>T

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

Heterozygous

0.028631 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.18054453G>A

ClinVar: NM_016239.4(MYO15A): c.7503G>A (p.Thr2501=)

Heterozygous

0.030959 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

0.033937 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

0.038273 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

0.043989 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_000487.6(ARSA): c.*96A>G

Heterozygous

0.045559
Trait: Metachromatic leukodystrophy pseudodeficiency
Inheritance: recessive
Significance: causal
Evidence: reported
Clinvar records: Pathogenic: Arylsulfatase A pseudodeficiency
Benign, other: not provided
Likely benign, 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.

View/edit on GenNotes

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

chr16:g.89815152G>A

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

Homozygous

0.056288 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

0.060312 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

0.061106 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.

View/edit on GenNotes

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

chr9:g.125132522A>G

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

Heterozygous

0.081916 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.89328335T>C

ClinVar: NC_000012.11: g.89328335T>C

Heterozygous

0.082339 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_002052.5(GATA4): c.997+200G>A

Heterozygous

0.091830 Clinvar entries without associated notes: Add effect notes to GenNotes

chr20:g.3193893A>C

ClinVar: NM_033453.4(ITPA): c.124+21A>C

Heterozygous

0.096245 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

0.108668 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.16170568C>T

ClinVar: NM_004996.4(ABCC1): c.1988+310C>T

Heterozygous

0.110172 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.16171148G>T

ClinVar: NM_004996.4(ABCC1): c.1988+890G>T

Heterozygous

0.110275 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.27373865G>A

ClinVar: NM_001979.6(EPHX2): c.860G>A (p.Arg287Gln)

Heterozygous

0.110834 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.90749256G>A

ClinVar: NM_001141945.2(ACTA2): c.-24+1440C>T

Heterozygous

0.114209 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.30252352G>T

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

Heterozygous

0.114474 Clinvar entries without associated notes: Add effect notes to GenNotes

chr9:g.86909550G>A

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

Heterozygous

0.118565 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.73942678C>T

ClinVar: NM_032217.5(ANKRD17): c.7731G>A (p.Thr2577=)

Heterozygous

0.119319 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

0.119863 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.69824024C>T

ClinVar: NC_000012.11: g.69824024C>T

Heterozygous

0.120226
Disease:
Inheritance: other/unknown
Significance: causal
Evidence: reported
Notes:

View/edit on GenNotes
Clinvar entries without associated notes:

chr3:g.46399208G>A

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

Heterozygous

0.120749 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.40757330A>G

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

Heterozygous

0.121382 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

chr6:g.154360797A>G

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

Heterozygous

0.122295 Clinvar entries without associated notes: Add effect notes to GenNotes

chr17:g.4836381C>T

ClinVar: NM_000173.7(GP1BA): c.482C>T (p.Thr161Met)

Heterozygous

0.122529 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.63131731G>A

ClinVar: NM_001142615.3(EHBP1): c.1185+30064G>A

Heterozygous

0.124473
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.

View/edit on GenNotes

chr9:g.101913690T>G

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

Heterozygous

0.124879
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.

View/edit on GenNotes

chr17:g.43911525C>T

ClinVar: NM_001145146.2(CRHR1): c.1194+111C>T

Heterozygous

0.125798 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

0.127335 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.183699584G>C

ClinVar: NM_001463.4(FRZB): c.970C>G (p.Arg324Gly)

Heterozygous

0.127447 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

0.132585
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).

View/edit on GenNotes
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.

View/edit on GenNotes
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.

View/edit on GenNotes
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.

View/edit on GenNotes
Clinvar entries without associated notes:

chr2:g.203378399del

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

Heterozygous

0.133034 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_002052.5(GATA4): c.1146+177C>T

Homozygous

0.150641 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.11616836G>A

ClinVar: NM_002052.5(GATA4): c.*852G>A

Homozygous

0.153792 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.35192279A>G

ClinVar: NM_000610.4(CD44): c.68-5843A>G

Heterozygous

0.159472 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.35192214G>A

ClinVar: NM_000610.4(CD44): c.68-5908G>A

Heterozygous

0.159526 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

chr11:g.113283688C>A

ClinVar: NM_000795.4(DRD2): c.811-83G>T

Heterozygous

0.169318 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

0.169900 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.51064416T>C

ClinVar: NM_000487.6(ARSA): c.1055A>G (p.Asn352Ser)

Heterozygous

0.172481 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.6122009T>A

ClinVar: NC_000010.10: g.6122009T>A

Homozygous

0.174640 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.70645376A>C

ClinVar: NM_152709.5(STOX1): c.1824A>C (p.Glu608Asp)

Heterozygous

0.177344 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_022127.3(SLC28A3): c.1381C>T (p.Leu461=)

Heterozygous

0.187807 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

0.200824 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.69745145G>A

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

Heterozygous

0.205379 Clinvar entries without associated notes: Add effect notes to GenNotes

chr20:g.23618427C>T

ClinVar: NM_000099.4(CST3): c.73G>A (p.Ala25Thr)

Heterozygous

0.205758
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).

View/edit on GenNotes
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.

View/edit on GenNotes

chr19:g.15990431C>T

ClinVar: NM_001082.5(CYP4F2): c.1297G>A (p.Val433Met)

Heterozygous

0.209427 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

0.213103 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

chr16:g.27374180T>C

ClinVar: NM_000418.4(IL4R): c.1507T>C (p.Ser503Pro)

Heterozygous

0.216412 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.44324727C>G

ClinVar: NM_025225.3(PNPLA3): c.444C>G (p.Ile148Met)

Homozygous

0.216572 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

chr11:g.88911696C>A

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

Homozygous

0.217590 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.74219582G>A

ClinVar: NM_005576.4(LOXL1): c.458G>A (p.Gly153Asp)

Heterozygous

0.219061 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.109817590G>T

ClinVar: NM_001408.3(CELSR2): c.*919G>T

Heterozygous

0.220404
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)

View/edit on GenNotes

chr16:g.20365654A>G

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

Heterozygous

0.224968 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.241531174G>A

ClinVar: NM_023083.4(CAPN10): c.471-176G>A

Heterozygous

0.226172 Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.57851097T>C

ClinVar: NC_000018.9: g.57851097T>C

Heterozygous

0.227441 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

0.227667 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.135426573A>G

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

Heterozygous

0.227960
Disease:
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: Likely pathogenic: Fetal hemoglobin quantitative trait locus 2 (HBFQTL2)
Notes:

View/edit on GenNotes

chr20:g.7912942C>G

ClinVar: NM_017545.3(HAO1): c.289+2189G>C

Heterozygous

0.233642 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

0.239727 Clinvar entries without associated notes: Add effect notes to GenNotes

chr20:g.7885184C>G

ClinVar: NM_017545.3(HAO1): c.721+1617G>C

Heterozygous

0.240236 Clinvar entries without associated notes: Add effect notes to GenNotes

chr20:g.7909166G>A

ClinVar: NM_017545.3(HAO1): c.289+5965C>T

Heterozygous

0.240564 Clinvar entries without associated notes: Add effect notes to GenNotes

chr20:g.7899928T>C

ClinVar: NM_017545.3(HAO1): c.290-4862A>G

Heterozygous

0.242299 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.114808902G>T

ClinVar: NM_001146274.2(TCF7L2): c.552+9017G>T

Heterozygous

0.243072 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.154548880G>A

ClinVar: NM_000748.3(CHRNB2): c.*472G>A

Heterozygous

0.251277 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.114758349C>T

ClinVar: NM_001146274.2(TCF7L2): c.450+33966C>T

Heterozygous

0.256450 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.113270828G>A

ClinVar: NM_178510.2(ANKK1): c.2137G>A (p.Glu713Lys)

Heterozygous

0.257243 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

0.260381
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).

View/edit on GenNotes
Clinvar entries without associated notes:

chr8:g.118184783C>T

ClinVar: NM_001172813.2(SLC30A8): c.826C>T (p.Arg276Trp)

Heterozygous

0.265589 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.45912736C>A

ClinVar: NM_001983.4(ERCC1): c.*197G>T

Heterozygous

0.265911 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.102466397C>T

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

Homozygous

0.268064 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.139884509C>T

ClinVar: NM_152888.3(COL22A1): c.658+5484G>A

Heterozygous

0.272663 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

0.278529 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.31114182A>G

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

Heterozygous

0.279989 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.41512792C>T

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

Heterozygous

0.281502 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.68855363G>A

ClinVar: NM_139075.4(TPCN2): c.2201G>A (p.Gly734Glu)

Heterozygous

0.282919 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.39734923A>G

ClinVar: NM_172139.4(IFNL3): c.259-126T>C

Homozygous

0.287821 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.53712727C>T

ClinVar: NM_004631.5(LRP8): c.2855G>A (p.Arg952Gln)

Heterozygous

0.288519 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.74219546G>T

ClinVar: NM_005576.4(LOXL1): c.422G>T (p.Arg141Leu)

Heterozygous

0.288922 Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.104165753G>A

ClinVar: NM_005432.4(XRCC3): c.722C>T (p.Thr241Met)

Heterozygous

0.293127 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.182554557C>T

ClinVar: NM_021133.4(RNASEL): c.1385G>A (p.Arg462Gln)

Heterozygous

0.296215 Clinvar entries without associated notes: Add effect notes to GenNotes

chr13:g.110435231C>T

ClinVar: NM_003749.3(IRS2): c.3170G>A (p.Gly1057Asp)

Homozygous

0.296437 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.50747539G>C

ClinVar: NM_001277059.1(ERCC6): c.-76C>G

Heterozygous

0.300332 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.13007458C>T

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

Heterozygous

0.300492 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.154426970A>C

ClinVar: NM_000565.4(IL6R): c.1073A>C (p.Asp358Ala)

Homozygous

0.304985 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.69202580T>G

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

Heterozygous

0.306823 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.9323910G>A

ClinVar: NM_004285.4(H6PD): c.1358G>A (p.Arg453Gln)

Heterozygous

0.309350 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.169635010G>A

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

Heterozygous

0.310754 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

0.313479 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.45673029T>C

ClinVar: NM_001321015.2(GATM): c.-394-272A>G

Heterozygous

0.313654 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.53800954T>C

ClinVar: NM_001080432.3(FTO): c.46-43098T>C

Heterozygous

0.316418 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.91527451T>A

ClinVar: NM_003981.4(PRC1): c.145-81A>T

Heterozygous

0.318211 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.11616410C>T

ClinVar: NM_002052.5(GATA4): c.*426C>T

Homozygous

0.320965 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.241817322C>T

ClinVar: NM_000030.3(AGXT): c.943-117C>T

Heterozygous

0.321623 Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.57882787C>A

ClinVar: NC_000018.9: g.57882787C>A

Heterozygous

0.324241 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.135376209T>G

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

Homozygous

0.325804 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.31107689C>T

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

Heterozygous

0.325975 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.31104878G>A

ClinVar: NM_024006.6(VKORC1): c.174-136C>T

Heterozygous

0.326143 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.10588138C>T

ClinVar: NM_002539.3(ODC1): c.-128+109G>A

Heterozygous

0.328014 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

0.338458 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.100260789T>C

ClinVar: NM_000669.5(ADH1C): c.1048A>G (p.Ile350Val)

Heterozygous

0.338591 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.100263965C>T

ClinVar: NM_000669.5(ADH1C): c.815G>A (p.Arg272Gln)

Heterozygous

0.338967 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.69143577A>G

ClinVar: NM_001199280.2(HAS3): c.279A>G (p.Ala93=)

Heterozygous

0.339669 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.610093C>T

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

Heterozygous

0.343319 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.27374400A>G

ClinVar: NM_000418.4(IL4R): c.1727A>G (p.Gln576Arg)

Homozygous

0.343606 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.204738919G>A

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

Homozygous

0.347827 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.57005479C>A

ClinVar: NM_000078.3(CETP): c.658+186C>A

Heterozygous

0.348050 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.35221862T>A

ClinVar: NM_000610.4(CD44): c.923-767T>A

Heterozygous

0.349952 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

0.353242 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.186336176A>G

ClinVar: NM_001622.4(AHSG): c.574-149A>G

Homozygous

0.355553 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.18257795C>T

ClinVar: NM_000015.3(NAT2): c.282C>T (p.Tyr94=)

Heterozygous

0.356253 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.93055753A>G

ClinVar: NM_001742.4(CALCR): c.1340T>C (p.Leu447Pro)

Heterozygous

0.357403 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.234672639G>T

ClinVar: NM_001072.4(UGT1A6): c.862-3041G>T

Homozygous

0.358092 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.234668570C>T

ClinVar: NM_001072.4(UGT1A6): c.862-7110C>T

Homozygous

0.363619 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.91525197C>T

ClinVar: NM_003981.4(PRC1): c.282G>A (p.Thr94=)

Heterozygous

0.366824 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

0.370022 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.31104509C>G

ClinVar: NM_024006.6(VKORC1): c.283+124G>C

Heterozygous

0.374920 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.38650628T>G

ClinVar: NM_006708.3(GLO1): c.332A>C (p.Glu111Ala)

Heterozygous

0.375950 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.91530820A>G

ClinVar: NM_003981.4(PRC1): c.12-2765T>C

Heterozygous

0.376436 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.39738787C>T

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

Homozygous

0.378271 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.20679709A>G

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

Heterozygous

0.380607 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.30726777A>T

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

Heterozygous

0.382943 Clinvar entries without associated notes: Add effect notes to GenNotes

chr21:g.37518706G>A

ClinVar: NM_001236.4(CBR3): c.730G>A (p.Val244Met)

Heterozygous

0.383411 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.78888400G>A

ClinVar: NM_000743.5(CHRNA3): c.*546C>T

Homozygous

0.385685 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.91523036C>T

ClinVar: NM_003981.4(PRC1): c.970+436G>A

Heterozygous

0.386499 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.46760756G>A

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

Heterozygous

0.387944 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.11615695A>G

ClinVar: NM_002052.5(GATA4): c.1147-107A>G

Homozygous

0.388495 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.74648603A>T

ClinVar: NM_000859.3(HMGCR): c.1368+1176A>T

Homozygous

0.390426 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

0.391667
Disease:
Inheritance: other/unknown
Significance: causal
Evidence: reported
Notes:

View/edit on GenNotes
Clinvar entries without associated notes:

chr16:g.16170615G>T

ClinVar: NM_004996.4(ABCC1): c.1988+357G>T

Heterozygous

0.392444 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.31102321C>T

ClinVar: NM_024006.6(VKORC1): c.*134G>A

Heterozygous

0.394806 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.31540313A>G

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

Heterozygous

0.395429
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:

chr11:g.69462910G>A

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

Homozygous

0.396934 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.20661034A>C

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

Heterozygous

0.405367 Clinvar entries without associated notes: Add effect notes to GenNotes

chr20:g.7106289T>C

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

Heterozygous

0.407791 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.136608646G>A

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

Homozygous

0.415486
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_005915.6(MCM6): c.1362+117G>A

Homozygous

0.419021
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

chr15:g.45620985C>T

ClinVar: NC_000015.9: g.45620985C>T

Heterozygous

0.425070 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.49206674G>A

ClinVar: NM_000511.6(FUT2): c.461G>A (p.Trp154Ter)

Homozygous

0.425290 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.18325146C>T

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

Heterozygous

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

chr12:g.6954875C>T

ClinVar: NM_002075.4(GNB3): c.825C>T (p.Ser275=)

Heterozygous

0.430372 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

0.443827 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

0.449051 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.241815473G>A

ClinVar: NM_000030.3(AGXT): c.846+52G>A

Heterozygous

0.453295 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.120663363T>C

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

Heterozygous

0.455718 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.91509592T>C

ClinVar: NM_003981.4(PRC1): c.*769A>G

Heterozygous

0.459786 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.7870973A>G

ClinVar: NM_002454.3(MTRR): c.66A>G (p.Ile22Met)

Homozygous

0.462196 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.57870155A>C

ClinVar: NM_032496.4(ARHGAP9): c.1108T>G (p.Ser370Ala)

Heterozygous

0.464352 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.160113872A>G

ClinVar: NM_000636.4(SOD2): c.47T>C (p.Val16Ala)

Homozygous

0.469164
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:

chr7:g.128578301G>T

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

Heterozygous

0.470730 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.35191445C>G

ClinVar: NM_000610.4(CD44): c.68-6677C>G

Heterozygous

0.470983 Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.55222475T>C

ClinVar: NM_001161576.2(SAMD4A): c.912+4220T>C

Homozygous

0.477357 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.46411935A>G

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

Heterozygous

0.479977 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.202097532_202097537del

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

Heterozygous

0.480004 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.186336027T>G

ClinVar: NM_001622.4(AHSG): c.574-298T>G

Homozygous

0.481168 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.108283161C>A

ClinVar: NM_152587.5(C11orf65): c.175-5285G>T

Heterozygous

0.483911 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.63258565C>G

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

Heterozygous

0.485729 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.198796120C>T

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

Heterozygous

0.485959 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.34818113A>T

ClinVar: NM_207172.2(NPSR1): c.320A>T (p.Asn107Ile)

Heterozygous

0.487292 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.24825511C>T

ClinVar: NM_000675.6(ADORA2A): c.-275+1797C>T

Homozygous

0.489434 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.166909544C>T

ClinVar: NM_006920.6(SCN1A): c.603-91G>A

Homozygous

0.493418 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.1296486A>G

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

Heterozygous

0.497225 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.110834110A>G

ClinVar: NM_001963.6(EGF): c.-382A>G

Heterozygous

0.504215 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.201081943C>T

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

Heterozygous

0.505729 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.103418158A>G

ClinVar: NC_000011.9: g.103418158A>G

Homozygous

0.506011 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.161479745A>G

ClinVar: NM_021642.4(FCGR2A): c.497A>G (p.His166Arg)

Homozygous

0.506771 Clinvar entries without associated notes: Add effect notes to GenNotes

chr21:g.46957794T>C

ClinVar: NM_194255.4(SLC19A1): c.80A>G (p.His27Arg)

Heterozygous

0.513368 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.1286516C>A

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

Heterozygous

0.525253 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

chr15:g.91517780G>C

ClinVar: NM_003981.4(PRC1): c.1350+35C>G

Heterozygous

0.527870 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.114807047G>C

ClinVar: NM_001146274.2(TCF7L2): c.552+7162G>C

Heterozygous

0.528808 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.21329738A>G

ClinVar: NM_006446.5(SLCO1B1): c.388A>G (p.Asn130Asp)

Heterozygous

0.529677 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.184071063G>C

ClinVar: NM_004366.6(CLCN2): c.2003C>G (p.Thr668Ser)

Heterozygous

0.532696 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.69536084A>C

ClinVar: NM_001076.4(UGT2B15): c.253T>G (p.Tyr85Asp)

Homozygous

0.537224 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.45923653A>G

ClinVar: NM_001983.4(ERCC1): c.354T>C (p.Asn118=)

Heterozygous

0.541933 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.35192629C>T

ClinVar: NM_000610.4(CD44): c.68-5493C>T

Heterozygous

0.543241 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_012387.3(PADI4): c.341-15T>C

Homozygous

0.552083 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.91511260A>G

ClinVar: NM_003981.4(PRC1): c.1792-828T>C

Heterozygous

0.557030 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

0.560177 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.28365618A>G

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

Heterozygous

0.562588 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.147574390A>G

ClinVar: NM_014141.6(CNTNAP2): c.2099-26267A>G

Homozygous

0.562944 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.160807715T>C

ClinVar: NM_016382.4(CD244): c.834+526A>G

Homozygous

0.564077 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.113594387G>A

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

Heterozygous

0.564372 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.149721690G>A

ClinVar: NM_001002255.2(SUMO4): c.163G>A (p.Val55Met)

Heterozygous

0.571916
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: NC_000016.10: g.31099660G>A

Heterozygous

0.575756 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.128589427G>A

ClinVar: NM_001098629.3(IRF5): c.*555G>A

Heterozygous

0.582308 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.179858444G>A

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

Homozygous

0.582653 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.1095281A>G

ClinVar: NM_001131034.4(RNF212): c.172-4654T>C

Homozygous

0.586778 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.70641860T>C

ClinVar: NM_152709.5(STOX1): c.457T>C (p.Tyr153His)

Heterozygous

0.590494 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.65494212A>G

ClinVar: NM_003613.4(CILP): c.1184T>C (p.Ile395Thr)

Homozygous

0.593732 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

0.595305 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

0.595800 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.74222202T>C

ClinVar: NM_005576.4(LOXL1): c.1102+1976T>C

Homozygous

0.601776 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_004996.4(ABCC1): c.1913-617C>T

Heterozygous

0.609150 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.154072020T>C

ClinVar: NM_130797.4(DPP6): c.244-71279T>C

Homozygous

0.612932 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.100317298C>A

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

Heterozygous

0.613226 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.11612698C>A

ClinVar: NM_002052.5(GATA4): c.997+56C>A

Heterozygous

0.617871 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.84192168G>C

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

Homozygous

0.628601 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.69389217C>G

ClinVar: NM_052958.4(C8orf34): c.736+8162C>G

Heterozygous

0.635911 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

0.636610 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_024006.6(VKORC1): c.283+837T>C

Heterozygous

0.643090 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.100513588_100513593del

ClinVar: NM_139057.4(ADAMTS17): c.*1014_*1019del

Heterozygous

0.646106 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.28530182C>T

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

Heterozygous

0.646909 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

0.647792 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.28513364T>C

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

Heterozygous

0.652621 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

0.655504 Clinvar entries without associated notes: Add effect notes to GenNotes

chr13:g.47411985A>G

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

Heterozygous

0.655981 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.33682737G>T

ClinVar: NM_170672.3(RASGRP3): c.-261+9727G>T

Heterozygous

0.661633 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.41515702T>C

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

Heterozygous

0.665122 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.27730940T>C

ClinVar: NM_001486.4(GCKR): c.1337T>C (p.Leu446Pro)

Heterozygous

0.674732 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.206946407T>G

ClinVar: NM_153758.3(IL19): c.-35+1984T>G

Homozygous

0.686854 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.43738350C>G

ClinVar: NM_001025366.3(VEGFA): c.-94C>G

Homozygous

0.698057
Disease:
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: risk factor: Microvascular complications of diabetes 1 (MVCD1)
Notes:

View/edit on GenNotes

chr10:g.115805056G>C

ClinVar: NM_000684.3(ADRB1): c.1165G>C (p.Gly389Arg)

Homozygous

0.698314 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.109527087G>A

ClinVar: NM_022336.4(EDAR): c.731-99C>T

Heterozygous

0.704000 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

0.707612 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.198867678G>T

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

Heterozygous

0.717681 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.198868084G>A

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

Heterozygous

0.717712 Clinvar entries without associated notes: Add effect notes to GenNotes

chr15:g.51502844A>C

ClinVar: NM_000103.4(CYP19A1): c.*161T>G

Homozygous

0.718108 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

0.720226 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.155254145T>C

ClinVar: NM_001427.4(EN2): c.686-921T>C

Homozygous

0.721416 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.155253993G>A

ClinVar: NM_001427.4(EN2): c.686-1073G>A

Homozygous

0.721740 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.156213257G>A

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

Homozygous

0.727941 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.109522720G>A

ClinVar: NM_022336.4(EDAR): c.1024+44C>T

Heterozygous

0.728327 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.198869514T>C

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

Heterozygous

0.735831 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.203155882G>C

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

Homozygous

0.749074 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.131995964A>G

ClinVar: NM_002188.3(IL13): c.431A>G (p.Gln144Arg)

Homozygous

0.749841 Clinvar entries without associated notes: Add effect notes to GenNotes

chr22:g.18900750G>A

ClinVar: NM_016335.5(PRODH): c.1741C>T (p.Leu581=)

Heterozygous

0.751745 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.166574246G>A

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

Homozygous

0.762866 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.78956432T>C

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

Heterozygous

0.764351 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.35669983A>G

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

Homozygous

0.768501
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

chr10:g.43582056T>C

ClinVar: NM_020975.6(RET): c.73+9277T>C

Heterozygous

0.774428
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_001243926.1(MAPKAPK3): c.-436A>T

Homozygous

0.776338 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.164007820A>G

ClinVar: NC_000004.11: g.164007820A>G

Heterozygous

0.786826 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.241815308A>G

ClinVar: NM_000030.3(AGXT): c.777-44A>G

Heterozygous

0.790690 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.99382096C>T

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

Homozygous

0.792137 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.46672943A>G

ClinVar: NM_005084.4(PLA2G7): c.1136T>C (p.Val379Ala)

Heterozygous

0.792998 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.114415368G>C

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

Homozygous

0.796084 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

0.798048 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.61690321A>G

ClinVar: NM_017780.4(CHD7): c.1666-3238A>G

Homozygous

0.804801 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.11606312T>C

ClinVar: NM_002052.5(GATA4): c.617-116T>C

Heterozygous

0.811595 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.1078187G>A

ClinVar: NM_001131034.4(RNF212): c.362+1497C>T

Hemizygous

0.825326 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.9994215C>T

ClinVar: NM_020041.3(SLC2A9): c.410+4190G>A

Homozygous

0.836996 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.16177687G>A

ClinVar: NM_004996.4(ABCC1): c.2292+288G>A

Homozygous

0.845339 Clinvar entries without associated notes: Add effect notes to GenNotes

chr12:g.10251445C>G

ClinVar: NM_016511.4(CLEC1A): c.77G>C (p.Gly26Ala)

Heterozygous

0.849315 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

chr9:g.37429661A>G

ClinVar: NM_012203.2(GRHPR): c.494-68A>G

Homozygous

0.863454 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

0.900542 Clinvar entries without associated notes: Add effect notes to GenNotes

chr2:g.109527373A>G

ClinVar: NM_022336.4(EDAR): c.655+30T>C

Heterozygous

0.908173 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.116660686G>A

ClinVar: NM_001166598.2(APOA5): c.*158C>T

Homozygous

0.932350 Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.88417096del

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

Homozygous

0.957949 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.169519049T>C

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

Homozygous

0.982740 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

0.983084 Clinvar entries without associated notes: Add effect notes to GenNotes

chr9:g.34635598T>C

ClinVar: NM_005866.4(SIGMAR1): c.*31A>G

Homozygous

0.988251 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.11221454T>C

ClinVar: NM_000527.4(LDLR): c.1060+7=

Homozygous

0.999904 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+62=

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_001127500.3(MET): c.-207=

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_199451.3(ZNF365): c.1130-972=

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.743-5183=

Heterozygous

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