brianpardy's vcf_data data (filename: "hu9B93D0.vcf.gz")

Variant Allele Freq Info

chr22:g.24109722G>A

ClinVar: NM_001301339.1(CHCHD10): c.100C>T (p.Pro34Ser)

Heterozygous

0.001750
Disease: Frontotemporal dementia and/or amyotrophic lateral sclerosis
Inheritance: dominant
Significance: causal
Evidence: reported
Clinvar records: Likely benign: not specified
Pathogenic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2)
Notes:

Found in 2 unrelated patients of a screen of 94, and the authors (https://www.ncbi.nlm.nih.gov/pubmed/25155093) seem to propose a dominant effect. But according to other databases this variant is relatively common (1 in 450 are carriers); this frequency in the general population is not mentioned by the study. This may be a contradiction of the reported effect: a disease-causing mutation carried by 1 in 450 individuals would typically be a phenomenon well-characterized by various studies.

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Clinvar entries without associated notes:
  • Likely benign:

chr1:g.159175494C>T

ClinVar: NM_002036.3(ACKR1): c.265C>T (p.Arg89Cys)

Heterozygous

0.010695 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.142780339C>T

ClinVar: NM_001018077.1(NR3C1): c.66G>A (p.Glu22=)

Heterozygous

0.017758 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.18303533G>A

ClinVar: NM_181507.1(HPS5): c.3293C>T (p.Thr1098Ile)

Heterozygous

0.023903 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.18139228C>T

ClinVar: NM_000367.4(TPMT): c.460G>A (p.Ala154Thr)

Heterozygous

0.024611 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.156848918C>T

ClinVar: NM_002529.3(NTRK1): c.1810C>T (p.His604Tyr)

Heterozygous

0.036946 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.156848946G>T

ClinVar: NM_001007792.1(NTRK1): c.1730G>T (p.Gly577Val)

Heterozygous

0.037055 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.18130918T>C

ClinVar: NM_000367.4(TPMT): c.719A>G (p.Tyr240Cys)

Heterozygous

0.040801 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.161518333A>T

ClinVar: NM_001127593.1(FCGR3A): c.197T>A (p.Leu66His)

Heterozygous

0.047996 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.54531242G>A

ClinVar: NM_000242.2(MBL2): c.154C>T (p.Arg52Cys)

Heterozygous

0.048656 Clinvar entries without associated notes: Add effect notes to GenNotes

chr9:g.116153891C>G

ClinVar: NM_000031.5(ALAD): c.177G>C (p.Lys59Asn)

Heterozygous

0.055710 Clinvar entries without associated notes: Add effect notes to GenNotes

chr21:g.46931109G>A

ClinVar: NM_030582.3(COL18A1): c.4309G>A (p.Asp1437Asn)

Heterozygous

0.065757 Clinvar entries without associated notes:

chr3:g.45814094G>A

ClinVar: NM_020208.3(SLC6A20): c.596C>T (p.Thr199Met)

Heterozygous

0.071618 Clinvar entries without associated notes: Add effect notes to GenNotes

chr8:g.143994266A>G

ClinVar: NM_000498.3(CYP11B2): c.1157T>C (p.Val386Ala)

Homozygous

0.088694 Clinvar entries without associated notes:

chr1:g.98165091T>C

ClinVar: NM_000110.3(DPYD): c.496A>G (p.Met166Val)

Heterozygous

0.089972
Trait: Toxicity/adverse response to fluorouracil and capecitabine
Inheritance: other/unknown
Significance: causal
Evidence: reported
Clinvar records: drug response: fluorouracil response - Toxicity/ADR
Notes:

This variant is reported to affect drug metabolism, and is associated with adverse reactions to chemotherapy with fluorouracil and capecitabine.

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Clinvar entries without associated notes:

chr1:g.115236057G>A

ClinVar: NM_000036.2(AMPD1): c.133C>T (p.Gln45Ter)

Heterozygous

0.095556
Disease: Adenosine Deaminase Deficiency
Inheritance: recessive
Significance: causal
Evidence: reported
Clinvar records: Pathogenic: Muscle AMP deaminase deficiency (MMDD)
Uncertain significance: not specified
Notes:

Reported to cause Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.

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chr12:g.69824024C>T

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

Heterozygous

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

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Clinvar entries without associated notes:

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.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

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
Pathogenic: Posttransfusion purpura (PTP)
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
risk factor: Fracture, hip, susceptibility to
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
Pathogenic: Thrombocytopenia, neonatal alloimmune (NAIT)
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:

chr12:g.21331549T>C

ClinVar: NM_006446.4(SLCO1B1): c.521T>C (p.Val174Ala)

Heterozygous

0.135440 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

chr10:g.96541616G>A

ClinVar: NM_000769.1(CYP2C19): c.681G>A (p.Pro227=)

Heterozygous

0.167273 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

chr3:g.124456742G>C

ClinVar: NM_000373.3(UMPS): c.638G>C (p.Gly213Ala)

Heterozygous

0.170189 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.31105554A>C

ClinVar: NM_024006.5(VKORC1): c.173+324T>G

Heterozygous

0.173678 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.96405502G>A

ClinVar: NC_000010.11: g.94645745G>A

Heterozygous

0.190039 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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chr12:g.21382619T>C

ClinVar: NM_006446.4(SLCO1B1): c.1865+4846T>C

Heterozygous

0.211565 Clinvar entries without associated notes: Add effect notes to GenNotes

chr3:g.38645420T>C

ClinVar: NM_198056.2(SCN5A): c.1673A>G (p.His558Arg)

Heterozygous

0.221139 Clinvar entries without associated notes: Add effect notes to GenNotes

chr14:g.21790040G>T

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

Heterozygous

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

chr5:g.179220638A>C

ClinVar: NM_145867.1(LTC4S): c.-444A>C

Heterozygous

0.231208 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.16251599C>T

ClinVar: NM_001171.5(ABCC6): c.3803G>A (p.Arg1268Gln)

Homozygous

0.234689 Clinvar entries without associated notes:

chr7:g.142458526A>G

ClinVar: NM_002769.4(PRSS1): c.161A>G (p.Asn54Ser)

Heterozygous

0.242607 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

chr15:g.78894339G>A

ClinVar: NM_001166694.1(CHRNA3): c.645C>T (p.Tyr215=)

Homozygous

0.255432 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:

chr19:g.41512841G>T

ClinVar: NM_000767.4(CYP2B6): c.516G>T (p.Gln172His)

Heterozygous

0.262184 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.142458451A>T

ClinVar: NM_002769.4(PRSS1): c.86A>T (p.Asn29Ile)

Heterozygous

0.267577 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.41515263A>G

ClinVar: NM_000767.4(CYP2B6): c.785A>G (p.Lys262Arg)

Homozygous

0.269487
Trait: Reduced efavirenz metabolism
Inheritance: additive
Significance: causal
Evidence: reported
Clinvar records: drug response: Efavirenz response
Notes:

Reported by Hass et al, 2004 as associated with reduced metabolism of the drug efavirenz (used to treat HIV), one of several drugs known to be metabolized by this gene's protein product.

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Clinvar entries without associated notes:

chr18:g.55247454G>A

ClinVar: NM_001012515.2(FECH): c.68-23C>T

Heterozygous

0.271497 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

chr17:g.32579788A>G

ClinVar: NG_012123.1: g.2493A>G

Heterozygous

0.281927 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.21391194G>A

ClinVar: NM_025221.5(KCNIP4): c.62-506862C>T

Heterozygous

0.293898 Clinvar entries without associated notes: Add effect notes to GenNotes

chr10:g.104897985T>C

ClinVar: NM_012229.4(NT5C2): c.175+1178A>G

Heterozygous

0.294160 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

chr15:g.45673029T>C

ClinVar: NM_001321015.1(GATM): c.-396-270A>G

Heterozygous

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

chr19:g.13010643G>T

ClinVar: NM_000159.3(GCDH): c.*288G>T

Heterozygous

0.321357 Clinvar entries without associated notes: Add effect notes to GenNotes

chr18:g.55816791G>A

ClinVar: NM_001144968.1(NEDD4L): c.24G>A (p.Gln8=)

Heterozygous

0.322414 Clinvar entries without associated notes: Add effect notes to GenNotes

chr1:g.161514542A>C

ClinVar: NM_001127593.1(FCGR3A): c.526T>G (p.Phe176Val)

Heterozygous

0.324299 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.31107689C>T

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

Heterozygous

0.326433 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.31104878G>A

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

Heterozygous

0.326777 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.151936677G>A

ClinVar: NM_025059.3(CCDC170): c.1810G>A (p.Val604Ile)

Heterozygous

0.341974 Clinvar entries without associated notes: Add effect notes to GenNotes

chr9:g.136301982C>G

ClinVar: NM_139025.4(ADAMTS13): c.1342C>G (p.Gln448Glu)

Heterozygous

0.343880 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.57005479C>A

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

Homozygous

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

chr2:g.208494234T>C

ClinVar: NC_000002.12: g.207629510T>C

Heterozygous

0.353666 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

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

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

Heterozygous

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

chr8:g.18257854T>C

ClinVar: NM_000015.2(NAT2): c.341T>C (p.Ile114Thr)

Heterozygous

0.382689 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

chr6:g.151948366G>A

ClinVar: NC_000006.12: g.151627231G>A

Heterozygous

0.392126 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.31102321C>T

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

Heterozygous

0.394750 Clinvar entries without associated notes: Add effect notes to GenNotes

chr5:g.148206440G>A

ClinVar: NM_000024.5(ADRB2): c.46A= (p.Arg16=)

Heterozygous

0.427364 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

chr7:g.141673345C>G

ClinVar: NM_176817.4(TAS2R38): c.145G>C (p.Ala49Pro)

Homozygous

0.433826 Clinvar entries without associated notes: Add effect notes to GenNotes

chr16:g.27356203A>G

ClinVar: NM_000418.3(IL4R): c.223A>G (p.Ile75Val)

Heterozygous

0.446704 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

chr11:g.120663363T>C

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

Homozygous

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

chr7:g.141672604T>C

ClinVar: NM_176817.4(TAS2R38): c.886A>G (p.Ile296Val)

Homozygous

0.460580 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

chr6:g.160113872A>G

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

Heterozygous

0.467640 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

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

chr2:g.49191041C>T

ClinVar: NM_000145.3(FSHR): c.919G>A (p.Ala307Thr)

Heterozygous

0.488321 Clinvar entries without associated notes: Add effect notes to GenNotes

chr6:g.39325078A>G

ClinVar: NM_145027.5(KIF6): c.2155T>C (p.Trp719Arg)

Heterozygous

0.489803 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

chr2:g.38298203C>G

ClinVar: NM_000104.3(CYP1B1): c.1294C= (p.Leu432=)

Heterozygous

0.502491 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.103418158A>G

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

Heterozygous

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

chr11:g.18290859C>T

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

Heterozygous

0.546372 Clinvar entries without associated notes: Add effect notes to 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

chr2:g.49189921C>T

ClinVar: NM_000145.3(FSHR): c.2039G>A (p.Ser680Asn)

Heterozygous

0.574874 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.187158034G>A

ClinVar: NM_000892.4(KLKB1): c.428G>A (p.Ser143Asn)

Heterozygous

0.600622 Clinvar entries without associated notes: Add effect notes to GenNotes

chr7:g.154072020T>C

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

Heterozygous

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

chr17:g.7579472G>C

ClinVar: NM_000546.5(TP53): c.215C>G (p.Pro72Arg)

Heterozygous

0.619355 Clinvar entries without associated notes: Add effect notes to GenNotes

chr4:g.84192168G>C

ClinVar: NM_015697.7(COQ2): c.779-1022C>G

Heterozygous

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

chr4:g.6295693C>G

ClinVar: NM_006005.3(WFS1): c.713-1075C>G

Heterozygous

0.630025 Clinvar entries without associated notes: Add effect notes to GenNotes

chr19:g.13010520A>G

ClinVar: NM_000159.3(GCDH): c.*165A>G

Heterozygous

0.631073 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

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

chr3:g.14187449G>T

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

Homozygous

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

Homozygous

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

chr19:g.41515702T>C

ClinVar: NM_000767.4(CYP2B6): c.823-197T>C

Heterozygous

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

chr5:g.35861068T>C

ClinVar: NM_002185.3(IL7R): c.197T>C (p.Ile66Thr)

Homozygous

0.684320 Clinvar entries without associated notes: Add effect notes to GenNotes

chr11:g.17409572T>C

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

Homozygous

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

chr19:g.44055726T>C

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

Homozygous

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

chr5:g.35871190G>A

ClinVar: NM_002185.3(IL7R): c.412G>A (p.Val138Ile)

Homozygous

0.725215 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

chr6:g.35669983A>G

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

Heterozygous

0.769253 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

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

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