SLC29A3 — 493 ClinVar variants

All ClinVar germline SLC29A3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 207 flagged for review →

24 Pathogenic · 7 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 29 Conflicting · 17 Benign · 17 Benign/Likely benign · 162 Likely benign · 228 Uncertain significance

Full SLC29A3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 207

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 14

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

SLC29A3 p.Ala266Val Conflicting Single submitter
Inborn genetic diseases
SLC29A3 p.Ala378Val Conflicting Single submitter
H syndrome
SLC29A3 p.Arg134His Conflicting Single submitter
H syndrome
SLC29A3 p.Arg162His Conflicting Single submitter
H syndrome
SLC29A3 p.Arg363Gln Conflicting Single submitter
H syndrome
SLC29A3 p.Arg386Gln Conflicting Single submitter
Fetal anomalies with a likely genetic cause
SLC29A3 p.Gly209Arg Conflicting Single submitter
H syndrome
SLC29A3 p.Leu43Arg Conflicting Single submitter
Inborn genetic diseases
SLC29A3 p.Ser285Leu Conflicting Single submitter
H syndrome
SLC29A3 p.Thr236Met Conflicting Single submitter
H syndrome
SLC29A3 p.Val211Ile Conflicting Single submitter
Inborn genetic diseases
SLC29A3 p.Val214Met Conflicting Single submitter
H syndrome
SLC29A3 p.Val394Met Conflicting Single submitter
Inborn genetic diseases
SLC29A3 p.Val4Ile Conflicting Single submitter
H syndrome

Predictors lean, ClinVar uncertain 158

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 158

SLC29A3 p.Ala144Gly Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Ala213Thr Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Ala267Asp Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Ala287Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC29A3 p.Arg38Cys Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Arg49Pro Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Arg83Cys Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Arg83His Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Asn14Asp Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Asn197Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SLC29A3 p.Asn375Ser Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Asp225Gly Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Asp27Val Uncertain significance Multiple submitters
Inborn genetic diseases
SLC29A3 p.Asp412Asn Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Asp7Glu Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Asp8Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SLC29A3 p.Glu331Lys Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Gly177Ser Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Gly191Ser Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Gly309Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SLC29A3 p.Gly336Ser Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Ile169Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC29A3 p.Ile330Val Uncertain significance Multiple submitters
Inborn genetic diseases
SLC29A3 p.Ile62Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC29A3 p.Ile62Val Uncertain significance Multiple submitters
Inborn genetic diseases
SLC29A3 p.Leu35Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SLC29A3 p.Leu429Ile Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Met172Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SLC29A3 p.Phe234Leu Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Pro277Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC29A3 p.Pro415Ala Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Ser23Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SLC29A3 p.Ser288Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC29A3 p.Ser307Asn Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Thr140Met Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Thr210Met Uncertain significance Multiple submitters
Inborn genetic diseases
SLC29A3 p.Thr90Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SLC29A3 p.Val129Ile Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Val242Met Uncertain significance Multiple submitters
Inborn genetic diseases
SLC29A3 p.Val402Ile Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Ala206Val Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ala257Gly Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ala257Val Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ala267Thr Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ala2Val Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ala30Val Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ala325Thr Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ala367Thr Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ala378Thr Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ala416Ser Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ala416Thr Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ala448Thr Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ala466Gly Uncertain significance Single submitter
H syndrome
SLC29A3 p.Arg196Lys Uncertain significance Single submitter
H syndrome
SLC29A3 p.Arg227Gly Uncertain significance Single submitter
H syndrome
SLC29A3 p.Arg227Lys Uncertain significance Single submitter
SLC29A3 p.Arg258Ser Uncertain significance Single submitter
H syndrome
SLC29A3 p.Arg289Ile Uncertain significance Single submitter
Inborn genetic diseases
SLC29A3 p.Arg299His Uncertain significance Single submitter
H syndrome
SLC29A3 p.Arg45Ser Uncertain significance Single submitter
H syndrome
SLC29A3 p.Arg49His Uncertain significance Single submitter
H syndrome
SLC29A3 p.Asn228Lys Uncertain significance Single submitter
H syndrome
SLC29A3 p.Asn329Ser Uncertain significance Single submitter
H syndrome
SLC29A3 p.Asn84Lys Uncertain significance Single submitter
H syndrome
SLC29A3 p.Asp292His Uncertain significance Single submitter
H syndrome
SLC29A3 p.Asp37Glu Uncertain significance Single submitter
H syndrome
SLC29A3 p.Asp412Gly Uncertain significance Single submitter
H syndrome
SLC29A3 p.Asp98Asn Uncertain significance Single submitter
H syndrome
SLC29A3 p.Cys458Tyr Uncertain significance Single submitter
SLC29A3 p.Glu274Gly Uncertain significance Single submitter
H syndrome
SLC29A3 p.Glu275Lys Uncertain significance Single submitter
H syndrome
SLC29A3 p.Glu444Lys Uncertain significance Single submitter
Inborn genetic diseases
SLC29A3 p.Gly209Glu Uncertain significance Single submitter
H syndrome
SLC29A3 p.Gly246Glu Uncertain significance Single submitter
H syndrome
SLC29A3 p.Gly272Asp Uncertain significance Single submitter
H syndrome
SLC29A3 p.Gly309Val Uncertain significance Single submitter
H syndrome
SLC29A3 p.Gly381Ala Uncertain significance Single submitter
H syndrome
SLC29A3 p.Gly381Trp Uncertain significance Single submitter
Inborn genetic diseases
SLC29A3 p.Gly61Asp Uncertain significance Single submitter
H syndrome
SLC29A3 p.Gly91Arg Uncertain significance Single submitter
H syndrome
SLC29A3 p.His11Asp Uncertain significance Single submitter
H syndrome
SLC29A3 p.His11Tyr Uncertain significance Single submitter
H syndrome
SLC29A3 p.His132Arg Uncertain significance Single submitter
H syndrome
SLC29A3 p.His268Tyr Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ile133Val Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ile142Val Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ile186Met Uncertain significance Single submitter
Inborn genetic diseases
SLC29A3 p.Ile202Val Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ile291Thr Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ile301Asn Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ile322Phe Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ile390Phe Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ile55Leu Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ile55Val Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ile99Met Uncertain significance Single submitter
H syndrome
SLC29A3 p.Leu143Pro Uncertain significance Single submitter
Inborn genetic diseases
SLC29A3 p.Leu217Ser Uncertain significance Single submitter
H syndrome
SLC29A3 p.Leu247Phe Uncertain significance Single submitter
H syndrome
SLC29A3 p.Leu31Gln Uncertain significance Single submitter
SLC29A3 p.Leu354Pro Uncertain significance Single submitter
H syndrome
SLC29A3 p.Leu379Phe Uncertain significance Single submitter
H syndrome
SLC29A3 p.Leu379Val Uncertain significance Single submitter
H syndrome
SLC29A3 p.Leu392Pro Uncertain significance Single submitter
H syndrome
SLC29A3 p.Leu43Pro Uncertain significance Single submitter
H syndrome
SLC29A3 p.Lys335Arg Uncertain significance Single submitter
H syndrome
SLC29A3 p.Lys405Arg Uncertain significance Single submitter
Inborn genetic diseases
SLC29A3 p.Lys405Glu Uncertain significance Single submitter
Inborn genetic diseases
SLC29A3 p.Lys81Arg Uncertain significance Single submitter
H syndrome
SLC29A3 p.Met116Val Uncertain significance Single submitter
H syndrome
SLC29A3 p.Met195Leu Uncertain significance Single submitter
H syndrome
SLC29A3 p.Met195Val Uncertain significance Single submitter
H syndrome
SLC29A3 p.Met207Val Uncertain significance Single submitter
H syndrome
SLC29A3 p.Met261Thr Uncertain significance Single submitter
H syndrome
SLC29A3 p.Phe240Cys Uncertain significance Single submitter
H syndrome
SLC29A3 p.Phe50Leu Uncertain significance Single submitter
H syndrome
SLC29A3 p.Pro277His Uncertain significance Single submitter
Inborn genetic diseases
SLC29A3 p.Pro297Leu Uncertain significance Single submitter
H syndrome
SLC29A3 p.Pro297Ser Uncertain significance Single submitter
H syndrome
SLC29A3 p.Pro300Ser Uncertain significance Single submitter
H syndrome
SLC29A3 p.Pro374Leu Uncertain significance Single submitter
H syndrome
SLC29A3 p.Pro391His Uncertain significance Single submitter
H syndrome
SLC29A3 p.Pro39Leu Uncertain significance Single submitter
H syndrome
SLC29A3 p.Pro94Arg Uncertain significance Single submitter
Inborn genetic diseases
SLC29A3 p.Ser105Arg Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ser176Arg Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ser192Cys Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ser192Phe Uncertain significance Single submitter
Inborn genetic diseases
SLC29A3 p.Ser203Pro Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ser280Cys Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ser293Thr Uncertain significance Single submitter
Inborn genetic diseases
SLC29A3 p.Ser293Tyr Uncertain significance Single submitter
Inborn genetic diseases
SLC29A3 p.Ser411Tyr Uncertain significance Single submitter
SLC29A3 p.Ser419Asn Uncertain significance Single submitter
Inborn genetic diseases
SLC29A3 p.Ser468Thr Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ser87Asn Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ser97Leu Uncertain significance Single submitter
H syndrome
SLC29A3 p.Thr140Ala Uncertain significance Single submitter
H syndrome
SLC29A3 p.Thr20Arg Uncertain significance Single submitter
H syndrome
SLC29A3 p.Thr295Ile Uncertain significance Single submitter
Inborn genetic diseases
SLC29A3 p.Thr343Ser Uncertain significance Single submitter
H syndrome
SLC29A3 p.Thr431Ile Uncertain significance Single submitter
H syndrome
SLC29A3 p.Thr469Ile Uncertain significance Single submitter
H syndrome
SLC29A3 p.Thr469Ser Uncertain significance Single submitter
H syndrome
SLC29A3 p.Tyr428Cys Uncertain significance Single submitter
H syndrome
SLC29A3 p.Tyr436Cys Uncertain significance Single submitter
H syndrome
SLC29A3 p.Tyr77Cys Uncertain significance Single submitter
H syndrome
SLC29A3 p.Val135Leu Uncertain significance Single submitter
H syndrome
SLC29A3 p.Val141Gly Uncertain significance Single submitter
H syndrome
SLC29A3 p.Val148Gly Uncertain significance Single submitter
H syndrome
SLC29A3 p.Val155Ala Uncertain significance Single submitter

Predictors split 35

The independent predictors disagree with each other — read with care.

SLC29A3 p.Ala230Thr Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Arg162Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SLC29A3 p.Arg401His Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Gly177Asp Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Gly427Ser Pathogenic Multiple submitters
H syndrome
SLC29A3 p.Ser337Leu Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Ser86Phe Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Thr305Met Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Tyr323His Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Val407Met Uncertain significance Multiple submitters
H syndrome
SLC29A3 p.Ala237Thr Uncertain significance Single submitter
SLC29A3 p.Arg196Gly Uncertain significance Single submitter
H syndrome
SLC29A3 p.Arg49Cys Uncertain significance Single submitter
H syndrome
SLC29A3 p.Cys311Tyr Uncertain significance Single submitter
Inborn genetic diseases
SLC29A3 p.Gly205Arg Uncertain significance Single submitter
SLC29A3 p.Gly381Glu Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ile202Thr Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ile72Phe Uncertain significance Single submitter
Inborn genetic diseases
SLC29A3 p.Leu243Pro Uncertain significance Single submitter
H syndrome
SLC29A3 p.Leu250Pro Uncertain significance Single submitter
H syndrome
SLC29A3 p.Leu392Val Uncertain significance Single submitter
H syndrome
SLC29A3 p.Lys344Met Uncertain significance Single submitter
SLC29A3 p.Lys75Asn Uncertain significance Single submitter
H syndrome
SLC29A3 p.Met207Ile Uncertain significance Single submitter
H syndrome
SLC29A3 p.Met453Ile Uncertain significance Single submitter
H syndrome
SLC29A3 p.Phe182Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC29A3 p.Phe316Val Conflicting Single submitter
H syndrome
SLC29A3 p.Phe393Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC29A3 p.Pro324Ser Uncertain significance Single submitter
H syndrome
SLC29A3 p.Pro348Leu Uncertain significance Single submitter
H syndrome
SLC29A3 p.Ser212Asn Uncertain significance Single submitter
Inborn genetic diseases
SLC29A3 p.Thr343Ile Uncertain significance Single submitter
H syndrome
SLC29A3 p.Thr449Met Uncertain significance Single submitter
H syndrome
SLC29A3 p.Tyr248Cys Uncertain significance Single submitter
H syndrome
SLC29A3 p.Tyr248His Uncertain significance Single submitter

All SLC29A3 variants

Pathogenic 24

c.300+1G>A Multiple submitters H syndrome
c.300+1G>C Multiple submitters SLC29A3-related disorder
p.Gly427Ser Multiple submitters H syndrome ⚠
p.Gly437Arg Multiple submitters Pigmentary skin disorders
p.Leu349fs Multiple submitters H syndrome
p.Lys81fs Multiple submitters SLC29A3-related disorder
p.Pro41fs Multiple submitters H syndrome
c.300+2T>C Single submitter H syndrome
c.610+1G>C Single submitter
p.Asn329fs Single submitter H syndrome
p.Asp359fs Single submitter H syndrome
p.Asp93fs Single submitter H syndrome
p.Glu47Ter Single submitter H syndrome
p.Ile322fs Single submitter H syndrome
p.Leu24fs Single submitter H syndrome
p.Leu36fs Single submitter H syndrome
p.Leu432fs Single submitter H syndrome
p.Ser21fs Single submitter H syndrome
p.Ser307fs Single submitter H syndrome
p.Thr90fs Single submitter H syndrome
p.Trp68fs Single submitter H syndrome
p.Tyr259Ter Single submitter H syndrome
p.Tyr314fs Single submitter SLC29A3-related disorder
p.Val148fs Single submitter H syndrome

Pathogenic/Likely pathogenic 7

p.Arg134Cys Multiple submitters H syndrome
p.Arg363Trp Multiple submitters SLC29A3-related disorder
p.Gln410Ter Multiple submitters H syndrome
p.Glu444Ter Multiple submitters SLC29A3-related disorder
p.Pro324Leu Multiple submitters SLC29A3-related disorder
p.Thr449Arg Multiple submitters SLC29A3-related disorder
p.Trp160Ter Multiple submitters H syndrome

Likely pathogenic 9

c.1+2T>G Multiple submitters H syndrome
c.611-1G>T Multiple submitters SLC29A3-related disorder
c.2-4A>G Single submitter H syndrome
c.610+1G>A Single submitter H syndrome
c.773+1G>A Single submitter H syndrome
p.Ala267delinsValLeuLeuProAlaGlyThrThrTer Single submitter H syndrome
p.Gly61fs Single submitter H syndrome
p.Gly63fs Single submitter SLC29A3-related disorder
p.Met1Lys No assertion criteria H syndrome

Conflicting classifications of pathogenicity 29

c.301-6T>C Single submitter H syndrome
c.384-10C>T Single submitter H syndrome
p.Ala166= Single submitter H syndrome
p.Ala266Val Single submitter Inborn genetic diseases ⚠
p.Ala378Val Single submitter H syndrome ⚠
p.Arg134His Single submitter H syndrome ⚠
p.Arg162His Single submitter H syndrome ⚠
p.Arg25Ter Single submitter H syndrome
p.Arg363Gln Single submitter H syndrome ⚠
p.Arg386Gln Single submitter Fetal anomalies with a likely genetic cause ⚠
p.Asn329= Single submitter H syndrome
p.Gly208= Single submitter H syndrome
p.Gly209Arg Single submitter H syndrome ⚠
p.His268= Single submitter H syndrome
p.Leu43Arg Single submitter Inborn genetic diseases ⚠
p.Phe316Val Single submitter H syndrome ⚠
p.Ser229= Single submitter H syndrome
p.Ser285= Single submitter H syndrome
p.Ser285Leu Single submitter H syndrome ⚠
p.Ser339= Single submitter H syndrome
p.Thr236Met Single submitter H syndrome ⚠
p.Thr449= Single submitter H syndrome
p.Thr73= Single submitter H syndrome
p.Tyr187= Single submitter H syndrome
p.Val211Ile Single submitter Inborn genetic diseases ⚠
p.Val214Met Single submitter H syndrome ⚠
p.Val394Met Single submitter Inborn genetic diseases ⚠
p.Val451fs Single submitter H syndrome
p.Val4Ile Single submitter H syndrome ⚠

Benign 17

c.1+162T>C Multiple submitters
c.1+235C>G Multiple submitters
c.300+3A>G Multiple submitters H syndrome
c.383+130G>A Multiple submitters
c.384-61G>T Multiple submitters
c.774-120A>C Multiple submitters
c.774-66C>A Multiple submitters
c.-63C>T Multiple submitters
c.*103G>T Multiple submitters H syndrome
c.*124C>T Multiple submitters H syndrome
c.*174G>A Multiple submitters H syndrome
p.Gly163Val Multiple submitters H syndrome
c.300+234A>G Single submitter
c.384-342A>C Single submitter
c.610+712C>G Single submitter
c.*705G>A Single submitter H syndrome
p.Val239= Single submitter H syndrome

Benign/Likely benign 17

c.2-17C>T Multiple submitters H syndrome
c.774-6C>T Multiple submitters H syndrome
c.*429C>T Multiple submitters H syndrome
p.Ala206= Multiple submitters H syndrome
p.Arg18Gly Multiple submitters H syndrome
p.Asn334Ser Multiple submitters H syndrome
p.Gln199= Multiple submitters H syndrome
p.Gly336= Multiple submitters H syndrome
p.Ile326Val Multiple submitters H syndrome
p.Leu281Pro Multiple submitters H syndrome
p.Leu379= Multiple submitters H syndrome
p.Phe382= Multiple submitters H syndrome
p.Pro277= Multiple submitters H syndrome
p.Thr112Ala Multiple submitters H syndrome
p.Thr238= Multiple submitters H syndrome
p.Val155= Multiple submitters H syndrome
p.Val239Ile Multiple submitters H syndrome

Likely benign 162

c.300+10del Multiple submitters H syndrome
c.300+14T>A Multiple submitters H syndrome
c.384-7G>A Multiple submitters H syndrome
c.774-13C>T Multiple submitters H syndrome
c.*711C>T Multiple submitters H syndrome
p.Ala178= Multiple submitters H syndrome
p.Ala213= Multiple submitters H syndrome
p.Ala378= Multiple submitters H syndrome
p.Arg25Gln Multiple submitters H syndrome
p.Arg299Cys Multiple submitters H syndrome
p.Arg38His Multiple submitters H syndrome
p.Asn375= Multiple submitters H syndrome
p.Asn426= Multiple submitters H syndrome
p.Asp37= Multiple submitters H syndrome
p.Asp7= Multiple submitters H syndrome
p.Glu6= Multiple submitters H syndrome
p.His473= Multiple submitters H syndrome
p.Leu65= Multiple submitters H syndrome
p.Pro374= Multiple submitters H syndrome
p.Pro391= Multiple submitters H syndrome
p.Pro40= Multiple submitters H syndrome
p.Ser176= Multiple submitters H syndrome
p.Ser307= Multiple submitters H syndrome
p.Ser337= Multiple submitters Inborn genetic diseases
p.Ser411= Multiple submitters H syndrome
p.Ser5= Multiple submitters H syndrome
p.Thr140= Multiple submitters H syndrome
p.Thr190= Multiple submitters H syndrome
p.Thr210= Multiple submitters H syndrome
p.Thr236= Multiple submitters H syndrome
p.Thr305= Multiple submitters H syndrome
p.Thr366= Multiple submitters H syndrome
p.Thr90= Multiple submitters H syndrome
p.Val402= Multiple submitters H syndrome
p.Val472= Multiple submitters H syndrome
c.2-12T>C Single submitter H syndrome
c.2-6C>T Single submitter H syndrome
c.2-9C>G Single submitter H syndrome
c.300+11G>A Single submitter H syndrome
c.300+7G>A Single submitter H syndrome
c.384-13A>G Single submitter H syndrome
c.384-15G>T Single submitter H syndrome
c.384-18C>G Single submitter H syndrome
c.384-19T>C Single submitter H syndrome
c.384-8C>T Single submitter H syndrome
c.610+10A>G Single submitter H syndrome
c.610+12G>A Single submitter H syndrome
c.610+13G>A Single submitter H syndrome
c.610+16C>T Single submitter H syndrome
c.610+17G>A Single submitter H syndrome
c.610+17G>C Single submitter H syndrome
c.610+18G>C Single submitter H syndrome
c.610+20C>A Single submitter H syndrome
c.611-11G>A Single submitter H syndrome
c.611-13C>G Single submitter H syndrome
c.611-14T>C Single submitter H syndrome
c.611-19T>G Single submitter H syndrome
c.611-20G>A Single submitter H syndrome
c.611-8C>G Single submitter H syndrome
c.773+13C>T Single submitter H syndrome
c.773+18del Single submitter H syndrome
c.774-10C>G Single submitter H syndrome
c.774-20G>T Single submitter H syndrome
c.*384C>T Single submitter H syndrome
c.*755G>A Single submitter H syndrome
c.*85G>A Single submitter H syndrome
p.Ala144= Single submitter H syndrome
p.Ala151= Single submitter H syndrome
p.Ala2= Single submitter H syndrome
p.Ala200= Single submitter H syndrome
p.Ala232= Single submitter H syndrome
p.Ala237= Single submitter H syndrome
p.Ala266= Single submitter H syndrome
p.Ala358= Single submitter H syndrome
p.Ala446= Single submitter H syndrome
p.Ala448= Single submitter H syndrome
p.Arg196= Single submitter H syndrome
p.Arg299= Single submitter H syndrome
p.Arg401= Single submitter H syndrome
p.Asn197= Single submitter H syndrome
p.Asn356= Single submitter H syndrome
p.Asp279= Single submitter H syndrome
p.Asp48= Single submitter H syndrome
p.Cys327= Single submitter H syndrome
p.Gln410= Single submitter H syndrome
p.Glu255= Single submitter H syndrome
p.Glu447= Single submitter H syndrome
p.Gly163= Single submitter H syndrome
p.Gly177= Single submitter H syndrome
p.Gly309= Single submitter H syndrome
p.Gly423= Single submitter H syndrome
p.Gly437= Single submitter H syndrome
p.Gly460= Single submitter H syndrome
p.Gly464= Single submitter H syndrome
p.Gly91= Single submitter H syndrome
p.His132= Single submitter H syndrome
p.His403= Single submitter H syndrome
p.Ile301= Single submitter H syndrome
p.Ile330= Single submitter H syndrome
p.Ile347= Single submitter H syndrome
p.Ile55= Single submitter H syndrome
p.Leu152= Single submitter H syndrome
p.Leu175= Single submitter H syndrome
p.Leu235= Single submitter H syndrome
p.Leu241= Single submitter H syndrome
p.Leu243= Single submitter H syndrome
p.Leu251= Single submitter H syndrome
p.Leu298= Single submitter H syndrome
p.Leu360= Single submitter H syndrome
p.Leu395= Single submitter H syndrome
p.Leu404= Single submitter
p.Leu422= Single submitter H syndrome
p.Leu424= Single submitter H syndrome
p.Leu429= Single submitter H syndrome
p.Leu432= Single submitter
p.Leu434= Single submitter H syndrome
p.Leu459= Single submitter H syndrome
p.Leu461= Single submitter H syndrome
p.Leu463= Single submitter H syndrome
p.Leu471= Single submitter H syndrome
p.Leu474= Single submitter H syndrome
p.Leu60= Single submitter H syndrome
p.Leu66= Single submitter H syndrome
p.Lys335= Single submitter H syndrome
p.Lys75= Single submitter H syndrome
p.Phe233= Single submitter H syndrome
p.Phe393= Single submitter H syndrome
p.Pro296= Single submitter H syndrome
p.Pro324= Single submitter H syndrome
p.Pro39= Single submitter H syndrome
p.Pro415= Single submitter H syndrome
p.Pro442= Single submitter H syndrome
p.Pro46= Single submitter H syndrome
p.Pro67= Single submitter H syndrome
p.Ser138= Single submitter H syndrome
p.Ser158= Single submitter H syndrome
p.Ser159= Single submitter H syndrome
p.Ser183= Single submitter H syndrome
p.Ser184= Single submitter H syndrome
p.Ser212= Single submitter H syndrome
p.Ser22= Single submitter H syndrome
p.Ser282= Single submitter
p.Ser420= Single submitter H syndrome
p.Ser430= Single submitter
p.Ser454= Single submitter H syndrome
p.Ser59= Single submitter H syndrome
p.Ser64= Single submitter H syndrome
p.Thr16= Single submitter H syndrome
p.Thr19= Single submitter H syndrome
p.Thr313= Single submitter H syndrome
p.Thr53= Single submitter H syndrome
p.Thr90Ser Single submitter
p.Tyr17= Single submitter
p.Tyr314= Single submitter H syndrome
p.Tyr398= Single submitter H syndrome
p.Tyr414= Single submitter H syndrome
p.Tyr436= Single submitter H syndrome
p.Tyr77= Single submitter H syndrome
p.Val170= Single submitter H syndrome
p.Val226= Single submitter H syndrome
p.Val394= Single submitter H syndrome
p.Val441= Single submitter H syndrome

Uncertain significance 228

p.Ala144Gly Multiple submitters H syndrome ⚠
p.Ala213Thr Multiple submitters H syndrome ⚠
p.Ala230Thr Multiple submitters H syndrome ⚠
p.Ala267Asp Multiple submitters H syndrome ⚠
p.Ala287Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg162Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg38Cys Multiple submitters H syndrome ⚠
p.Arg401Cys Multiple submitters Inborn genetic diseases
p.Arg401His Multiple submitters H syndrome ⚠
p.Arg49Pro Multiple submitters H syndrome ⚠
p.Arg83Cys Multiple submitters H syndrome ⚠
p.Arg83His Multiple submitters H syndrome ⚠
p.Asn14Asp Multiple submitters H syndrome ⚠
p.Asn197Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn375Ser Multiple submitters H syndrome ⚠
p.Asp225Gly Multiple submitters H syndrome ⚠
p.Asp27Val Multiple submitters Inborn genetic diseases ⚠
p.Asp412Asn Multiple submitters H syndrome ⚠
p.Asp7Glu Multiple submitters H syndrome ⚠
p.Asp8Asn Multiple submitters Inborn genetic diseases ⚠
p.Glu331Lys Multiple submitters H syndrome ⚠
p.Gly177Asp Multiple submitters H syndrome ⚠
p.Gly177Ser Multiple submitters H syndrome ⚠
p.Gly191Ser Multiple submitters H syndrome ⚠
p.Gly309Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly336Ser Multiple submitters H syndrome ⚠
p.Ile169Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile330Val Multiple submitters Inborn genetic diseases ⚠
p.Ile62Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile62Val Multiple submitters Inborn genetic diseases ⚠
p.Leu35Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu429Ile Multiple submitters H syndrome ⚠
p.Met172Ile Multiple submitters Inborn genetic diseases ⚠
p.Phe234Leu Multiple submitters H syndrome ⚠
p.Pro277Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro415Ala Multiple submitters H syndrome ⚠
p.Pro67Ser Multiple submitters H syndrome
p.Ser23Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser288Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser307Asn Multiple submitters H syndrome ⚠
p.Ser337Leu Multiple submitters H syndrome ⚠
p.Ser86Phe Multiple submitters H syndrome ⚠
p.Ter476Trp Multiple submitters H syndrome
p.Thr140Met Multiple submitters H syndrome ⚠
p.Thr210Met Multiple submitters Inborn genetic diseases ⚠
p.Thr305Met Multiple submitters H syndrome ⚠
p.Thr90Ile Multiple submitters Inborn genetic diseases ⚠
p.Tyr323His Multiple submitters H syndrome ⚠
p.Val129Ile Multiple submitters H syndrome ⚠
p.Val173del Multiple submitters H syndrome
p.Val242Met Multiple submitters Inborn genetic diseases ⚠
p.Val383Met Multiple submitters Inborn genetic diseases
p.Val402Ile Multiple submitters H syndrome ⚠
p.Val407Met Multiple submitters H syndrome ⚠
c.300+5G>A Single submitter H syndrome
c.384-17T>A Single submitter H syndrome
c.610+6A>G Single submitter H syndrome
c.*111A>G Single submitter H syndrome
c.*11A>C Single submitter H syndrome
c.*220A>G Single submitter H syndrome
c.*318C>T Single submitter H syndrome
c.*321C>G Single submitter H syndrome
c.*379A>G Single submitter H syndrome
c.*403C>T Single submitter H syndrome
c.*485G>A Single submitter H syndrome
c.*557A>C Single submitter H syndrome
c.*603A>G Single submitter H syndrome
c.*657dup Single submitter
c.*744G>A Single submitter H syndrome
p.Ala206Val Single submitter H syndrome ⚠
p.Ala213Val Single submitter Inborn genetic diseases
p.Ala237Thr Single submitter ⚠
p.Ala257Gly Single submitter H syndrome ⚠
p.Ala257Val Single submitter H syndrome ⚠
p.Ala267Thr Single submitter H syndrome ⚠
p.Ala2Val Single submitter H syndrome ⚠
p.Ala30Val Single submitter H syndrome ⚠
p.Ala325Thr Single submitter H syndrome ⚠
p.Ala367Thr Single submitter H syndrome ⚠
p.Ala378Thr Single submitter H syndrome ⚠
p.Ala416Ser Single submitter H syndrome ⚠
p.Ala416Thr Single submitter H syndrome ⚠
p.Ala448Thr Single submitter H syndrome ⚠
p.Ala466Gly Single submitter H syndrome ⚠
p.Arg196Gly Single submitter H syndrome ⚠
p.Arg196Lys Single submitter H syndrome ⚠
p.Arg227Gly Single submitter H syndrome ⚠
p.Arg227Lys Single submitter ⚠
p.Arg258Ser Single submitter H syndrome ⚠
p.Arg289Ile Single submitter Inborn genetic diseases ⚠
p.Arg299His Single submitter H syndrome ⚠
p.Arg45Ser Single submitter H syndrome ⚠
p.Arg49Cys Single submitter H syndrome ⚠
p.Arg49His Single submitter H syndrome ⚠
p.Asn228Lys Single submitter H syndrome ⚠
p.Asn329Ser Single submitter H syndrome ⚠
p.Asn84Lys Single submitter H syndrome ⚠
p.Asp292His Single submitter H syndrome ⚠
p.Asp37Glu Single submitter H syndrome ⚠
p.Asp412Gly Single submitter H syndrome ⚠
p.Asp98Asn Single submitter H syndrome ⚠
p.Cys311Tyr Single submitter Inborn genetic diseases ⚠
p.Cys458Tyr Single submitter ⚠
p.Gln364Ter Single submitter H syndrome
p.Glu274Gly Single submitter H syndrome ⚠
p.Glu275Lys Single submitter H syndrome ⚠
p.Glu444Lys Single submitter Inborn genetic diseases ⚠
p.Glu444Met Single submitter H syndrome
p.Gly188= Single submitter H syndrome
p.Gly205Arg Single submitter ⚠
p.Gly209Glu Single submitter H syndrome ⚠
p.Gly246Glu Single submitter H syndrome ⚠
p.Gly272Asp Single submitter H syndrome ⚠
p.Gly309Val Single submitter H syndrome ⚠
p.Gly373Glu Single submitter H syndrome
p.Gly381Ala Single submitter H syndrome ⚠
p.Gly381Glu Single submitter H syndrome ⚠
p.Gly381Trp Single submitter Inborn genetic diseases ⚠
p.Gly61Asp Single submitter H syndrome ⚠
p.Gly91Arg Single submitter H syndrome ⚠
p.His11Asp Single submitter H syndrome ⚠
p.His11Tyr Single submitter H syndrome ⚠
p.His132Arg Single submitter H syndrome ⚠
p.His268Tyr Single submitter H syndrome ⚠
p.Ile133Val Single submitter H syndrome ⚠
p.Ile142Val Single submitter H syndrome ⚠
p.Ile186Met Single submitter Inborn genetic diseases ⚠
p.Ile202Thr Single submitter H syndrome ⚠
p.Ile202Val Single submitter H syndrome ⚠
p.Ile291Thr Single submitter H syndrome ⚠
p.Ile301Asn Single submitter H syndrome ⚠
p.Ile322Phe Single submitter H syndrome ⚠
p.Ile390Phe Single submitter H syndrome ⚠
p.Ile475Thr Single submitter H syndrome
p.Ile55Leu Single submitter H syndrome ⚠
p.Ile55Val Single submitter H syndrome ⚠
p.Ile72Phe Single submitter Inborn genetic diseases ⚠
p.Ile99Met Single submitter H syndrome ⚠
p.Leu100= Single submitter H syndrome
p.Leu143Pro Single submitter Inborn genetic diseases ⚠
p.Leu217Ser Single submitter H syndrome ⚠
p.Leu220Trp Single submitter H syndrome
p.Leu243Pro Single submitter H syndrome ⚠
p.Leu247Phe Single submitter H syndrome ⚠
p.Leu250Pro Single submitter H syndrome ⚠
p.Leu31Gln Single submitter ⚠
p.Leu354Pro Single submitter H syndrome ⚠
p.Leu379Phe Single submitter H syndrome ⚠
p.Leu379Val Single submitter H syndrome ⚠
p.Leu392Pro Single submitter H syndrome ⚠
p.Leu392Val Single submitter H syndrome ⚠
p.Leu43Pro Single submitter H syndrome ⚠
p.Leu66del Single submitter H syndrome
p.Lys304del Single submitter H syndrome
p.Lys335Arg Single submitter H syndrome ⚠
p.Lys344Met Single submitter ⚠
p.Lys405Arg Single submitter Inborn genetic diseases ⚠
p.Lys405Glu Single submitter Inborn genetic diseases ⚠
p.Lys75Asn Single submitter H syndrome ⚠
p.Lys81Arg Single submitter H syndrome ⚠
p.Met116Val Single submitter H syndrome ⚠
p.Met195Leu Single submitter H syndrome ⚠
p.Met195Val Single submitter H syndrome ⚠
p.Met207Ile Single submitter H syndrome ⚠
p.Met207Val Single submitter H syndrome ⚠
p.Met261Thr Single submitter H syndrome ⚠
p.Met453Ile Single submitter H syndrome ⚠
p.Phe182Leu Single submitter Inborn genetic diseases ⚠
p.Phe240Cys Single submitter H syndrome ⚠
p.Phe317del Single submitter H syndrome
p.Phe393Leu Single submitter Inborn genetic diseases ⚠
p.Phe50Leu Single submitter H syndrome ⚠
p.Phe71del Single submitter H syndrome
p.Pro277His Single submitter Inborn genetic diseases ⚠
p.Pro297Leu Single submitter H syndrome ⚠
p.Pro297Ser Single submitter H syndrome ⚠
p.Pro300Ser Single submitter H syndrome ⚠
p.Pro324Ser Single submitter H syndrome ⚠
p.Pro348Leu Single submitter H syndrome ⚠
p.Pro374Leu Single submitter H syndrome ⚠
p.Pro391His Single submitter H syndrome ⚠
p.Pro39Leu Single submitter H syndrome ⚠
p.Pro94Arg Single submitter Inborn genetic diseases ⚠
p.Ser105Arg Single submitter H syndrome ⚠
p.Ser176Arg Single submitter H syndrome ⚠
p.Ser184Pro Single submitter H syndrome
p.Ser192Cys Single submitter H syndrome ⚠
p.Ser192Phe Single submitter Inborn genetic diseases ⚠
p.Ser203Pro Single submitter H syndrome ⚠
p.Ser212Asn Single submitter Inborn genetic diseases ⚠
p.Ser280Cys Single submitter H syndrome ⚠
p.Ser293Thr Single submitter Inborn genetic diseases ⚠
p.Ser293Tyr Single submitter Inborn genetic diseases ⚠
p.Ser411Tyr Single submitter ⚠
p.Ser419Asn Single submitter Inborn genetic diseases ⚠
p.Ser468Thr Single submitter H syndrome ⚠
p.Ser87Asn Single submitter H syndrome ⚠
p.Ser97Leu Single submitter H syndrome ⚠
p.Thr140Ala Single submitter H syndrome ⚠
p.Thr20Arg Single submitter H syndrome ⚠
p.Thr238_Val239delinsIle Single submitter H syndrome
p.Thr295Ile Single submitter Inborn genetic diseases ⚠
p.Thr305Ile Single submitter H syndrome
p.Thr343Ile Single submitter H syndrome ⚠
p.Thr343Ser Single submitter H syndrome ⚠
p.Thr431Ile Single submitter H syndrome ⚠
p.Thr449Met Single submitter H syndrome ⚠
p.Thr469Ile Single submitter H syndrome ⚠
p.Thr469Ser Single submitter H syndrome ⚠
p.Tyr248Cys Single submitter H syndrome ⚠
p.Tyr248His Single submitter ⚠
p.Tyr428Cys Single submitter H syndrome ⚠
p.Tyr436Cys Single submitter H syndrome ⚠
p.Tyr456Ter Single submitter H syndrome
p.Tyr77Cys Single submitter H syndrome ⚠
p.Val135Leu Single submitter H syndrome ⚠
p.Val141Gly Single submitter H syndrome ⚠
p.Val148Gly Single submitter H syndrome ⚠
p.Val155Ala Single submitter ⚠
p.Val170Leu Single submitter H syndrome ⚠
p.Val173Leu Single submitter H syndrome ⚠
p.Val173Met Single submitter H syndrome ⚠
p.Val226Leu Single submitter H syndrome ⚠
p.Val315Ile Single submitter Inborn genetic diseases ⚠
p.Val383Leu Single submitter H syndrome
p.Val3Ile Single submitter H syndrome ⚠
p.Val413Met Single submitter H syndrome ⚠
p.Val457Met Single submitter H syndrome ⚠