EPAS1 — 1663 ClinVar variants

All ClinVar germline EPAS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 947 flagged for review →

4 Pathogenic · 3 Likely pathogenic · 36 Conflicting · 85 Benign · 23 Benign/Likely benign · 548 Likely benign · 964 Uncertain significance

Full EPAS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 947

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 21

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

EPAS1 p.Ala410Thr Conflicting Single submitter
Inborn genetic diseases
EPAS1 p.Ala506Thr Conflicting Single submitter
Inborn genetic diseases
EPAS1 p.Arg14Lys Conflicting Single submitter
Inborn genetic diseases
EPAS1 p.Arg602Gln Conflicting Single submitter
Inborn genetic diseases
EPAS1 p.Arg690Gln Conflicting Single submitter
Inborn genetic diseases
EPAS1 p.Arg798Gly Conflicting Single submitter
Inborn genetic diseases
EPAS1 p.Asp161Asn Conflicting Single submitter
Inborn genetic diseases
EPAS1 p.Gln809His Conflicting Single submitter
Inborn genetic diseases
EPAS1 p.Glu287Lys Conflicting Single submitter
Inborn genetic diseases
EPAS1 p.Glu80Lys Conflicting Single submitter
Inborn genetic diseases
EPAS1 p.Gly655Arg Conflicting Single submitter
EPAS1 p.Gly724Arg Conflicting Single submitter
Inborn genetic diseases
EPAS1 p.Met368Ile Conflicting Single submitter
erythrocytosis, familial, 4
EPAS1 p.Met770Val Conflicting Single submitter
Inborn genetic diseases
EPAS1 p.Met87Val Conflicting Single submitter
Inborn genetic diseases
EPAS1 p.Phe374Tyr Conflicting Single submitter
erythrocytosis, familial, 4
EPAS1 p.Phe608Leu Conflicting Single submitter
Inborn genetic diseases
EPAS1 p.Pro465Leu Conflicting Single submitter
Inborn genetic diseases
EPAS1 p.Pro666Leu Conflicting Single submitter
Inborn genetic diseases
EPAS1 p.Pro781Leu Conflicting Single submitter
Inborn genetic diseases
EPAS1 p.Ser377Asn Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 680

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 680

EPAS1 p.Ala439Gly Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Ala463Thr Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Ala698Pro Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Ala758Thr Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Ala81Thr Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Ala83Asp Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Arg181Cys Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Arg247His Uncertain significance Multiple submitters
EPAS1 p.Arg550Trp Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Arg825Gln Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Asp642Asn Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Asp642Glu Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Cys174Gly Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Cys74Gly Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Gln589Arg Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Glu450Asp Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Gly648Arg Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Gly663Glu Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Gly774Ala Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Gly860Arg Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Leu273Phe Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Leu777Arg Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Met309Ile Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Phe583Leu Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Pro579Leu Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Pro619Leu Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Pro619Ser Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Pro643Ser Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Pro670Arg Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Pro776Ser Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Ser672Cys Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Ser703Ala Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Tyr427Phe Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Val694Met Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Val850Met Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Ala22Val Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala23Val Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala283Val Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala369Val Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala381Pro Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala401Gly Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala401Thr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala410Val Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala426Asp Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala426Thr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala430Ser Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala439Asp Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala439Ser Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala456Thr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala462Glu Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala462Ser Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala462Thr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala464Pro Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala464Ser Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala464Thr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala506Asp Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala511Thr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala553Glu Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala553Thr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala575Val Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala578Gly Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala624Thr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala653Val Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala664Thr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala664Val Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala665Val Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala684Val Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala698Asp Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala698Thr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala718Asp Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala718Thr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala718Val Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala805Pro Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala805Thr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala816Ser Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala823Gly Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala83Gly Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala865Ser Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala865Val Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala869Ser Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala869Thr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Arg181His Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Arg247Cys Uncertain significance Single submitter
EPAS1 p.Arg26Gln Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Arg26Trp Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Arg27Gln Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Arg27Trp Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Arg308Gln Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Arg330His Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Arg550Gln Uncertain significance Single submitter
EPAS1 p.Arg602Gly Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Arg634Ser Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Arg690Pro Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Arg739Gln Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Arg739Leu Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Arg744Met Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Arg798Ser Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Arg825Leu Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Arg841Thr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn151Ser Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn151Thr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn178Ser Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn184Asp Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn184Lys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn203Lys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn204Asp Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn204Ser Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn328Ile Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn328Lys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn387His Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn418Tyr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn420Thr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn522Asp Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn522Lys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn522Ser Uncertain significance Single submitter
EPAS1 p.Asn522Tyr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn555Asp Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn569Asp Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn569His Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn636His Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn636Ile Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn636Ser Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn704Lys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn742Lys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn759Asp Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn759His Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn759Lys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn762Asp Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn762Ile Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn762Ser Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn762Thr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn77Asp Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn794Ile Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp105His Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp107His Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp133Asn Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp161Gly Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp161His Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp167His Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp251Asn Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp258His Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp285Asn Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp285Tyr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp375Asn Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp375Tyr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp415Ala Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp415Asn Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp487Asn Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp487Glu Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp495Asn Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 246

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 246

EPAS1 p.Ala94Val Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Arg602Trp Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Arg658Cys Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Arg825Trp Benign/Likely benign Multiple submitters
Inborn genetic diseases
EPAS1 p.Asp105Asn Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Glu398Lys Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Gly156Trp Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Ile223Leu Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Ile61Val Likely benign Multiple submitters
Inborn genetic diseases
EPAS1 p.Leu264Val Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Leu43Val Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Met535Thr Pathogenic Multiple submitters
erythrocytosis, familial, 4
EPAS1 p.Pro329Leu Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Pro44Leu Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Pro576Leu Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Ser12Leu Likely benign Multiple submitters
Inborn genetic diseases
EPAS1 p.Ser424Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Thr196Lys Likely benign Multiple submitters
erythrocytosis, familial, 4
EPAS1 p.Thr359Asn Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Thr840Ala Uncertain significance Multiple submitters
EPAS1 p.Trp639Arg Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Val654Ile Uncertain significance Multiple submitters
Inborn genetic diseases
EPAS1 p.Ala277Thr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala404Pro Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala410Pro Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala530Glu Uncertain significance Single submitter
EPAS1 p.Ala530Val Uncertain significance Single submitter
EPAS1 p.Ala60Val Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala865Asp Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ala865Pro Uncertain significance Single submitter
EPAS1 p.Ala94Gly Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Arg14Ser Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Arg166Gln Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Arg20Gly Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Arg20Trp Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Arg275His Uncertain significance Single submitter
EPAS1 p.Arg443Trp Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn288Thr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn328Ser Conflicting Single submitter
Inborn genetic diseases
EPAS1 p.Asn331His Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn331Ser Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn341Ser Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn371Ile Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn569Lys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asn847Lys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp240Asn Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp357Asn Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp357Glu Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp520Gly Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp656Tyr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp843His Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp861His Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp861Tyr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp867Ala Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Asp88His Uncertain significance Single submitter
EPAS1 p.Cys25Ser Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Cys74Arg Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Cys844Arg Uncertain significance Single submitter
EPAS1 p.Gln104Lys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Gln306Glu Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Glu17Asp Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Glu270Lys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Glu287Ala Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Glu320Gln Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Glu360Asp Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Glu395Asp Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Glu395Lys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Glu399Gln Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Glu499Lys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Glu502Gly Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Glu502Lys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Glu510Lys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Glu549Val Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Glu6Lys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Glu713Lys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Glu716Lys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Glu832Val Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Glu838Lys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Glu845Gly Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Glu845Lys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Gly305Ala Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Gly408Arg Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Gly686Cys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Gly688Trp Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.His231Asn Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.His231Pro Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.His231Tyr Uncertain significance Single submitter
EPAS1 p.His234Pro Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.His50Leu Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.His50Tyr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ile109Met Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ile224Phe Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ile265Thr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ile337Val Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ile501Thr Uncertain significance Single submitter
EPAS1 p.Ile99Phe Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Leu121Phe Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Leu239Val Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Leu273Val Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Leu332Val Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Leu362Pro Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Leu414Pro Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Leu496Pro Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Leu529Val Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Leu628His Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Leu667Trp Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Leu743Arg Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Leu777Met Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Leu826Arg Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Leu827Phe Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Leu827Pro Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Leu866Met Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Leu92Arg Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Lys150Asn Uncertain significance Single submitter
EPAS1 p.Lys157Gln Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Lys160Thr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Lys242Met Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Lys253Arg Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Lys364Asn Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Lys68Glu Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Lys68Thr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Lys705Glu Conflicting Single submitter
Inborn genetic diseases
EPAS1 p.Lys7Asn Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Met108Val Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Met119Ile Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Met235Arg Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Met289Ile Uncertain significance Single submitter
EPAS1 p.Phe118Leu Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Phe34Leu Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Phe421Leu Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Phe540Leu Uncertain significance Single submitter
erythrocytosis, familial, 4
EPAS1 p.Phe719Leu Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Phe831Leu Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Pro217Arg Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Pro365Thr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Pro465Arg Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Pro534Arg Likely pathogenic Single submitter
erythrocytosis, familial, 4
EPAS1 p.Pro534Leu Likely pathogenic Single submitter
erythrocytosis, familial, 4
EPAS1 p.Pro560His Conflicting Single submitter
Inborn genetic diseases
EPAS1 p.Pro697Leu Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Pro849Ser Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ser10Cys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ser11Asn Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ser130Thr Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ser153Cys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ser159Cys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ser220Cys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ser233Cys Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ser233Phe Uncertain significance Single submitter
Inborn genetic diseases
EPAS1 p.Ser241Asn Conflicting Single submitter
Inborn genetic diseases

All EPAS1 variants

Pathogenic 4

p.Gly537Arg Multiple submitters erythrocytosis, familial, 4
p.Met535Thr Multiple submitters erythrocytosis, familial, 4 ⚠
p.Gly537Trp No assertion criteria erythrocytosis, familial, 4
p.Met535Val No assertion criteria erythrocytosis, familial, 4 ⚠

Likely pathogenic 3

p.Asp525Tyr Single submitter erythrocytosis, familial, 3
p.Pro534Arg Single submitter erythrocytosis, familial, 4 ⚠
p.Pro534Leu Single submitter erythrocytosis, familial, 4 ⚠

Conflicting classifications of pathogenicity 36

c.2287+8G>A Single submitter
p.Ala410Thr Single submitter Inborn genetic diseases ⚠
p.Ala506Thr Single submitter Inborn genetic diseases ⚠
p.Arg14Lys Single submitter Inborn genetic diseases ⚠
p.Arg602Gln Single submitter Inborn genetic diseases ⚠
p.Arg690Gln Single submitter Inborn genetic diseases ⚠
p.Arg798Gly Single submitter Inborn genetic diseases ⚠
p.Asn328Ser Single submitter Inborn genetic diseases ⚠
p.Asp161Asn Single submitter Inborn genetic diseases ⚠
p.Gln809His Single submitter Inborn genetic diseases ⚠
p.Glu287Lys Single submitter Inborn genetic diseases ⚠
p.Glu80Lys Single submitter Inborn genetic diseases ⚠
p.Gly655Arg Single submitter ⚠
p.Gly724Arg Single submitter Inborn genetic diseases ⚠
p.Ile789= Single submitter Inborn genetic diseases
p.Leu64= Single submitter Inborn genetic diseases
p.Lys705Glu Single submitter Inborn genetic diseases ⚠
p.Met368Ile Single submitter erythrocytosis, familial, 4 ⚠
p.Met770Val Single submitter Inborn genetic diseases ⚠
p.Met87Val Single submitter Inborn genetic diseases ⚠
p.Phe374Tyr Single submitter erythrocytosis, familial, 4 ⚠
p.Phe416= Single submitter erythrocytosis, familial, 4
p.Phe421= Single submitter Inborn genetic diseases
p.Phe608Leu Single submitter Inborn genetic diseases ⚠
p.Pro465Leu Single submitter Inborn genetic diseases ⚠
p.Pro560His Single submitter Inborn genetic diseases ⚠
p.Pro666Leu Single submitter Inborn genetic diseases ⚠
p.Pro781Leu Single submitter Inborn genetic diseases ⚠
p.Ser241Asn Single submitter Inborn genetic diseases ⚠
p.Ser377Asn Single submitter Inborn genetic diseases ⚠
p.Ser49Tyr Single submitter Inborn genetic diseases ⚠
p.Thr196Met Single submitter Inborn genetic diseases ⚠
p.Tyr427= Single submitter Inborn genetic diseases
p.Val343Ile Single submitter Inborn genetic diseases ⚠
p.Val700Ile Single submitter Inborn genetic diseases ⚠
p.Val819= Single submitter erythrocytosis, familial, 4

Benign 85

c.1034+102C>T Multiple submitters
c.1249+38C>T Multiple submitters
c.1250-20C>T Multiple submitters erythrocytosis, familial, 4
c.1443+61A>G Multiple submitters
c.1444-137A>G Multiple submitters
c.1554+29T>G Multiple submitters
c.1554+48G>C Multiple submitters
c.2045+8dup Multiple submitters erythrocytosis, familial, 4
c.2046-193C>G Multiple submitters
c.2173-27C>T Multiple submitters
c.2173-69C>G Multiple submitters
c.218-103A>T Multiple submitters
c.218-11C>T Multiple submitters erythrocytosis, familial, 4
c.218-55C>A Multiple submitters
c.218-9_218-8insT Multiple submitters
c.218-9C>T Multiple submitters erythrocytosis, familial, 4
c.2461+27C>G Multiple submitters
c.26+7G>C Multiple submitters erythrocytosis, familial, 4
c.369+152G>A Multiple submitters
c.454+112T>G Multiple submitters
c.780-15T>A Multiple submitters erythrocytosis, familial, 4
c.887-107T>C Multiple submitters
c.887-151C>A Multiple submitters
c.-140G>A Multiple submitters erythrocytosis, familial, 4
c.-471C>T Multiple submitters erythrocytosis, familial, 4
c.*111A>G Multiple submitters erythrocytosis, familial, 4
c.*1239A>G Multiple submitters erythrocytosis, familial, 4
c.*1272C>T Multiple submitters erythrocytosis, familial, 4
c.*1724G>A Multiple submitters erythrocytosis, familial, 4
c.*208T>C Multiple submitters erythrocytosis, familial, 4
c.*349T>C Multiple submitters erythrocytosis, familial, 4
c.*354G>C Multiple submitters erythrocytosis, familial, 4
p.Ala611= Multiple submitters erythrocytosis, familial, 4
p.Asn636= Multiple submitters erythrocytosis, familial, 4
p.Pro785Thr Multiple submitters erythrocytosis, familial, 4
p.Thr766Pro Multiple submitters erythrocytosis, familial, 4
c.1034+112A>G Single submitter
c.1034+189A>G Single submitter
c.1034+281A>C Single submitter
c.1034+284C>T Single submitter
c.1035-240A>G Single submitter
c.1035-38A>C Single submitter
c.1249+151C>T Single submitter
c.1250-176T>C Single submitter
c.1250-22_1250-20delinsCCT Single submitter erythrocytosis, familial, 4
c.1444-219C>T Single submitter
c.1555-285A>G Single submitter
c.217+17C>T Single submitter
c.218-10_218-8del Single submitter
c.218-11_218-10insGCT Single submitter
c.218-11_218-10insT Single submitter
c.218-12_218-11insG Single submitter
c.218-12C>T Single submitter erythrocytosis, familial, 4
c.218-8del Single submitter
c.2288-26G>A Single submitter
c.2461+220A>G Single submitter
c.2461+224A>T Single submitter
c.2461+229A>T Single submitter
c.2461+234A>C Single submitter
c.2462-177G>A Single submitter
c.26+12T>C Single submitter
c.26+179G>A Single submitter
c.26+315G>C Single submitter
c.27-12T>C Single submitter
c.779+259G>T Single submitter
c.886+224T>C Single submitter
c.-58dup Single submitter
c.*1207A>C Single submitter erythrocytosis, familial, 4
c.*1260T>C Single submitter erythrocytosis, familial, 4
c.*1275C>A Single submitter erythrocytosis, familial, 4
c.*1276G>A Single submitter erythrocytosis, familial, 4
c.*1566T>C Single submitter erythrocytosis, familial, 4
c.*1614C>T Single submitter erythrocytosis, familial, 4
c.*1878T>C Single submitter erythrocytosis, familial, 4
c.*262A>G Single submitter erythrocytosis, familial, 4
c.*512A>G Single submitter erythrocytosis, familial, 4
c.*54C>T Single submitter erythrocytosis, familial, 4
c.*575A>C Single submitter erythrocytosis, familial, 4
c.*602G>C Single submitter erythrocytosis, familial, 4
c.*808C>A Single submitter erythrocytosis, familial, 4
c.*842A>C Single submitter erythrocytosis, familial, 4
c.*853G>A Single submitter erythrocytosis, familial, 4
p.Asn759Ser Single submitter erythrocytosis, familial, 4
c.218-10_218-9insT No assertion criteria EPAS1-related disorder
c.218-8_218-7dup No assertion criteria EPAS1-related disorder

Benign/Likely benign 23

c.1035-15T>C Multiple submitters erythrocytosis, familial, 4
c.1035-6C>G Multiple submitters erythrocytosis, familial, 4
c.218-10C>A Multiple submitters erythrocytosis, familial, 4
c.218-11C>G Multiple submitters erythrocytosis, familial, 4
c.218-12C>A Multiple submitters erythrocytosis, familial, 4
c.574-11G>A Multiple submitters erythrocytosis, familial, 4
c.574-5C>G Multiple submitters erythrocytosis, familial, 4
c.-4G>A Multiple submitters erythrocytosis, familial, 4
p.Ala553Val Multiple submitters Inborn genetic diseases
p.Arg825Trp Multiple submitters Inborn genetic diseases ⚠
p.Asn331= Multiple submitters Inborn genetic diseases
p.Asn371= Multiple submitters Inborn genetic diseases
p.Gly724Glu Multiple submitters Inborn genetic diseases
p.Ile115= Multiple submitters Inborn genetic diseases
p.Leu722= Multiple submitters Inborn genetic diseases
p.Leu836= Multiple submitters Inborn genetic diseases
p.Lys614= Multiple submitters Inborn genetic diseases
p.Pro752Leu Multiple submitters Inborn genetic diseases
p.Ser286= Multiple submitters Inborn genetic diseases
p.Ser814= Multiple submitters Inborn genetic diseases
p.Thr196= Multiple submitters Inborn genetic diseases
p.Thr359= Multiple submitters erythrocytosis, familial, 4
p.Tyr256= Multiple submitters Inborn genetic diseases

Likely benign 548

Showing the top 300 by review status; the full set is in the sitemap.

c.1035-13T>C Multiple submitters erythrocytosis, familial, 4
c.1035-16dup Multiple submitters erythrocytosis, familial, 4
c.1554+7G>A Multiple submitters erythrocytosis, familial, 4
c.886+12G>A Multiple submitters erythrocytosis, familial, 4
p.Ala283= Multiple submitters Inborn genetic diseases
p.Ala665= Multiple submitters Inborn genetic diseases
p.Ala701= Multiple submitters Inborn genetic diseases
p.Ala865= Multiple submitters Inborn genetic diseases
p.Arg275= Multiple submitters Inborn genetic diseases
p.Arg778= Multiple submitters Inborn genetic diseases
p.Arg864= Multiple submitters Inborn genetic diseases
p.Asn288= Multiple submitters Inborn genetic diseases
p.Asn494= Multiple submitters Inborn genetic diseases
p.Asn77= Multiple submitters Inborn genetic diseases
p.Asn847= Multiple submitters Inborn genetic diseases
p.Asp351= Multiple submitters Inborn genetic diseases
p.Asp409= Multiple submitters Inborn genetic diseases
p.Asp693= Multiple submitters Inborn genetic diseases
p.Asp861= Multiple submitters Inborn genetic diseases
p.Cys138= Multiple submitters Inborn genetic diseases
p.Gln638= Multiple submitters Inborn genetic diseases
p.Glu271= Multiple submitters Inborn genetic diseases
p.Glu713Asp Multiple submitters Inborn genetic diseases
p.Glu832= Multiple submitters Inborn genetic diseases
p.Gly537= Multiple submitters Inborn genetic diseases
p.Gly612Arg Multiple submitters Inborn genetic diseases
p.Gly633= Multiple submitters Inborn genetic diseases
p.His231= Multiple submitters Inborn genetic diseases
p.His248= Multiple submitters Inborn genetic diseases
p.His734= Multiple submitters Inborn genetic diseases
p.Ile326= Multiple submitters Inborn genetic diseases
p.Ile533= Multiple submitters Inborn genetic diseases
p.Ile61Val Multiple submitters Inborn genetic diseases ⚠
p.Leu218= Multiple submitters Inborn genetic diseases
p.Leu273Arg Multiple submitters Inborn genetic diseases
p.Leu310= Multiple submitters Inborn genetic diseases
p.Leu584= Multiple submitters Inborn genetic diseases
p.Leu662= Multiple submitters Inborn genetic diseases
p.Leu706= Multiple submitters Inborn genetic diseases
p.Leu777= Multiple submitters Inborn genetic diseases
p.Leu827= Multiple submitters Inborn genetic diseases
p.Leu866= Multiple submitters Inborn genetic diseases
p.Lys18= Multiple submitters Inborn genetic diseases
p.Lys5= Multiple submitters Inborn genetic diseases
p.Lys680= Multiple submitters Inborn genetic diseases
p.Phe505= Multiple submitters Inborn genetic diseases
p.Pro434= Multiple submitters Inborn genetic diseases
p.Pro434Ser Multiple submitters Inborn genetic diseases
p.Pro460= Multiple submitters Inborn genetic diseases
p.Pro465= Multiple submitters Inborn genetic diseases
p.Pro599= Multiple submitters Inborn genetic diseases
p.Pro619= Multiple submitters Inborn genetic diseases
p.Pro666= Multiple submitters Inborn genetic diseases
p.Pro692= Multiple submitters Inborn genetic diseases
p.Pro749His Multiple submitters Inborn genetic diseases
p.Pro801= Multiple submitters Inborn genetic diseases
p.Ser12Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser757= Multiple submitters Inborn genetic diseases
p.Ser854= Multiple submitters Inborn genetic diseases
p.Thr196Lys Multiple submitters erythrocytosis, familial, 4 ⚠
p.Thr31= Multiple submitters Inborn genetic diseases
p.Thr324= Multiple submitters Inborn genetic diseases
p.Thr440= Multiple submitters Inborn genetic diseases
p.Thr597= Multiple submitters Inborn genetic diseases
p.Thr637= Multiple submitters Inborn genetic diseases
p.Tyr316= Multiple submitters Inborn genetic diseases
p.Tyr532= Multiple submitters Inborn genetic diseases
p.Val201= Multiple submitters Inborn genetic diseases
c.1035-16C>T Single submitter
c.1035-18C>T Single submitter
c.1035-7C>A Single submitter
c.1035-8C>G Single submitter
c.1035-8C>T Single submitter
c.1250-4A>T Single submitter
c.1443+17T>C Single submitter
c.1443+20C>T Single submitter
c.1444-16C>A Single submitter
c.1444-16C>G Single submitter
c.1444-18C>T Single submitter
c.1444-7C>T Single submitter
c.1444-8G>T Single submitter
c.1555-121C>T Single submitter
c.1555-14C>T Single submitter
c.1555-18G>T Single submitter
c.2045+15C>T Single submitter
c.2045+20C>T Single submitter
c.2046-56A>C Single submitter
c.2046-5G>C Single submitter
c.217+11C>G Single submitter
c.2173-20T>C Single submitter
c.2173-8_2173-4del Single submitter
c.218-14_218-13insG Single submitter
c.218-8dup Single submitter
c.218-9_218-8insGCTCT Single submitter
c.2287+10G>A Single submitter
c.2288-20C>G Single submitter
c.2288-9G>T Single submitter
c.27-10C>T Single submitter
c.27-8C>G Single submitter
c.573+7C>A Single submitter
c.574-12C>T Single submitter
c.779+13G>A Single submitter
c.779+19G>A Single submitter
c.887-10C>T Single submitter
c.*1373C>A Single submitter erythrocytosis, familial, 4
p.Ala100= Single submitter Inborn genetic diseases
p.Ala22= Single submitter Inborn genetic diseases
p.Ala23= Single submitter Inborn genetic diseases
p.Ala277= Single submitter Inborn genetic diseases
p.Ala3= Single submitter Inborn genetic diseases
p.Ala369Thr Single submitter Inborn genetic diseases
p.Ala381= Single submitter Inborn genetic diseases
p.Ala3Thr Single submitter Inborn genetic diseases
p.Ala401= Single submitter Inborn genetic diseases
p.Ala410= Single submitter Inborn genetic diseases
p.Ala430= Single submitter Inborn genetic diseases
p.Ala439= Single submitter Inborn genetic diseases
p.Ala451= Single submitter Inborn genetic diseases
p.Ala456= Single submitter Inborn genetic diseases
p.Ala462= Single submitter Inborn genetic diseases
p.Ala463= Single submitter Inborn genetic diseases
p.Ala464= Single submitter Inborn genetic diseases
p.Ala472= Single submitter Inborn genetic diseases
p.Ala506= Single submitter Inborn genetic diseases
p.Ala511= Single submitter Inborn genetic diseases
p.Ala54= Single submitter Inborn genetic diseases
p.Ala553= Single submitter Inborn genetic diseases
p.Ala566= Single submitter Inborn genetic diseases
p.Ala566Thr Single submitter Inborn genetic diseases
p.Ala575= Single submitter Inborn genetic diseases
p.Ala578= Single submitter Inborn genetic diseases
p.Ala611Gly Single submitter Inborn genetic diseases
p.Ala615= Single submitter Inborn genetic diseases
p.Ala624= Single submitter Inborn genetic diseases
p.Ala624Asp Single submitter Inborn genetic diseases
p.Ala653= Single submitter Inborn genetic diseases
p.Ala664= Single submitter Inborn genetic diseases
p.Ala689= Single submitter Inborn genetic diseases
p.Ala718= Single submitter Inborn genetic diseases
p.Ala758= Single submitter Inborn genetic diseases
p.Ala81= Single submitter Inborn genetic diseases
p.Ala816= Single submitter Inborn genetic diseases
p.Ala94= Single submitter Inborn genetic diseases
p.Arg14= Single submitter Inborn genetic diseases
p.Arg15= Single submitter Inborn genetic diseases
p.Arg166= Single submitter Inborn genetic diseases
p.Arg171= Single submitter Inborn genetic diseases
p.Arg181= Single submitter Inborn genetic diseases
p.Arg24= Single submitter Inborn genetic diseases
p.Arg26= Single submitter Inborn genetic diseases
p.Arg27= Single submitter Inborn genetic diseases
p.Arg308= Single submitter Inborn genetic diseases
p.Arg330= Single submitter Inborn genetic diseases
p.Arg443= Single submitter Inborn genetic diseases
p.Arg550= Single submitter Inborn genetic diseases
p.Arg58= Single submitter Inborn genetic diseases
p.Arg602= Single submitter Inborn genetic diseases
p.Arg634= Single submitter Inborn genetic diseases
p.Arg658= Single submitter Inborn genetic diseases
p.Arg682= Single submitter Inborn genetic diseases
p.Arg710= Single submitter Inborn genetic diseases
p.Arg739= Single submitter Inborn genetic diseases
p.Arg744= Single submitter Inborn genetic diseases
p.Arg798= Single submitter Inborn genetic diseases
p.Asn114= Single submitter Inborn genetic diseases
p.Asn151= Single submitter Inborn genetic diseases
p.Asn178= Single submitter Inborn genetic diseases
p.Asn184= Single submitter Inborn genetic diseases
p.Asn204= Single submitter Inborn genetic diseases
p.Asn209Ser Single submitter Inborn genetic diseases
p.Asn295= Single submitter Inborn genetic diseases
p.Asn328= Single submitter Inborn genetic diseases
p.Asn387= Single submitter Inborn genetic diseases
p.Asn418Ser Single submitter Inborn genetic diseases
p.Asn420= Single submitter Inborn genetic diseases
p.Asn483= Single submitter Inborn genetic diseases
p.Asn483Ser Single submitter Inborn genetic diseases
p.Asn494Asp Single submitter Inborn genetic diseases
p.Asn555= Single submitter Inborn genetic diseases
p.Asn742= Single submitter Inborn genetic diseases
p.Asn759= Single submitter Inborn genetic diseases
p.Asn768= Single submitter Inborn genetic diseases
p.Asn77Ser Single submitter Inborn genetic diseases
p.Asp105= Single submitter Inborn genetic diseases
p.Asp107= Single submitter Inborn genetic diseases
p.Asp133= Single submitter Inborn genetic diseases
p.Asp161= Single submitter Inborn genetic diseases
p.Asp21= Single submitter Inborn genetic diseases
p.Asp236= Single submitter Inborn genetic diseases
p.Asp251= Single submitter Inborn genetic diseases
p.Asp258= Single submitter Inborn genetic diseases
p.Asp285= Single submitter Inborn genetic diseases
p.Asp487= Single submitter Inborn genetic diseases
p.Asp493= Single submitter Inborn genetic diseases
p.Asp495= Single submitter Inborn genetic diseases
p.Asp508= Single submitter Inborn genetic diseases
p.Asp536= Single submitter Inborn genetic diseases
p.Asp610= Single submitter Inborn genetic diseases
p.Asp642= Single submitter Inborn genetic diseases
p.Asp721= Single submitter Inborn genetic diseases
p.Asp726= Single submitter Inborn genetic diseases
p.Asp763Gly Single submitter Inborn genetic diseases
p.Asp84= Single submitter Inborn genetic diseases
p.Asp843= Single submitter Inborn genetic diseases
p.Asp88= Single submitter Inborn genetic diseases
p.Cys174= Single submitter Inborn genetic diseases
p.Cys226= Single submitter Inborn genetic diseases
p.Cys257= Single submitter Inborn genetic diseases
p.Cys297= Single submitter Inborn genetic diseases
p.Cys479= Single submitter Inborn genetic diseases
p.Cys621= Single submitter Inborn genetic diseases
p.Cys748= Single submitter Inborn genetic diseases
p.Cys803= Single submitter Inborn genetic diseases
p.Gln104= Single submitter Inborn genetic diseases
p.Gln230= Single submitter Inborn genetic diseases
p.Gln322= Single submitter Inborn genetic diseases
p.Gln358= Single submitter Inborn genetic diseases
p.Gln419= Single submitter Inborn genetic diseases
p.Gln461= Single submitter Inborn genetic diseases
p.Gln514= Single submitter Inborn genetic diseases
p.Gln561= Single submitter Inborn genetic diseases
p.Gln711= Single submitter Inborn genetic diseases
p.Gln784= Single submitter Inborn genetic diseases
p.Gln802= Single submitter Inborn genetic diseases
p.Gln807= Single submitter Inborn genetic diseases
p.Gln85= Single submitter Inborn genetic diseases
p.Glu113= Single submitter Inborn genetic diseases
p.Glu13= Single submitter
p.Glu165= Single submitter Inborn genetic diseases
p.Glu17= Single submitter Inborn genetic diseases
p.Glu227= Single submitter Inborn genetic diseases
p.Glu263= Single submitter Inborn genetic diseases
p.Glu30= Single submitter Inborn genetic diseases
p.Glu32= Single submitter Inborn genetic diseases
p.Glu346= Single submitter Inborn genetic diseases
p.Glu348= Single submitter Inborn genetic diseases
p.Glu360= Single submitter Inborn genetic diseases
p.Glu396= Single submitter Inborn genetic diseases
p.Glu399= Single submitter Inborn genetic diseases
p.Glu423= Single submitter Inborn genetic diseases
p.Glu441= Single submitter Inborn genetic diseases
p.Glu450= Single submitter Inborn genetic diseases
p.Glu510= Single submitter Inborn genetic diseases
p.Glu527= Single submitter Inborn genetic diseases
p.Glu548= Single submitter Inborn genetic diseases
p.Glu554= Single submitter Inborn genetic diseases
p.Glu600= Single submitter Inborn genetic diseases
p.Glu716= Single submitter Inborn genetic diseases
p.Glu793= Single submitter Inborn genetic diseases
p.Glu80= Single submitter Inborn genetic diseases
p.Glu845= Single submitter Inborn genetic diseases
p.Gly106= Single submitter Inborn genetic diseases
p.Gly154= Single submitter Inborn genetic diseases
p.Gly156= Single submitter Inborn genetic diseases
p.Gly180= Single submitter Inborn genetic diseases
p.Gly197= Single submitter Inborn genetic diseases
p.Gly213= Single submitter Inborn genetic diseases
p.Gly266= Single submitter Inborn genetic diseases
p.Gly274= Single submitter Inborn genetic diseases
p.Gly305= Single submitter Inborn genetic diseases
p.Gly314= Single submitter Inborn genetic diseases
p.Gly323= Single submitter Inborn genetic diseases
p.Gly378= Single submitter Inborn genetic diseases
p.Gly380= Single submitter Inborn genetic diseases
p.Gly380Val Single submitter Inborn genetic diseases
p.Gly466= Single submitter Inborn genetic diseases
p.Gly612= Single submitter Inborn genetic diseases
p.Gly622= Single submitter Inborn genetic diseases
p.Gly632= Single submitter Inborn genetic diseases
p.Gly648= Single submitter Inborn genetic diseases
p.Gly655= Single submitter Inborn genetic diseases
p.Gly668= Single submitter Inborn genetic diseases
p.Gly686= Single submitter Inborn genetic diseases
p.Gly725= Single submitter Inborn genetic diseases
p.Gly729= Single submitter Inborn genetic diseases
p.Gly730= Single submitter Inborn genetic diseases
p.Gly746= Single submitter Inborn genetic diseases
p.Gly772= Single submitter Inborn genetic diseases
p.Gly792= Single submitter Inborn genetic diseases
p.Gly821= Single submitter Inborn genetic diseases
p.Gly859= Single submitter Inborn genetic diseases
p.Gly860= Single submitter Inborn genetic diseases
p.Gly97= Single submitter Inborn genetic diseases
p.His129= Single submitter Inborn genetic diseases
p.His234= Single submitter Inborn genetic diseases
p.His268= Single submitter Inborn genetic diseases
p.His282= Single submitter Inborn genetic diseases
p.His293= Single submitter Inborn genetic diseases
p.His39= Single submitter Inborn genetic diseases
p.His445= Single submitter Inborn genetic diseases
p.His45= Single submitter Inborn genetic diseases
p.His562= Single submitter Inborn genetic diseases
p.His580= Single submitter Inborn genetic diseases
p.His646= Single submitter Inborn genetic diseases
p.His67= Single submitter Inborn genetic diseases
p.His675= Single submitter Inborn genetic diseases
p.His817= Single submitter Inborn genetic diseases
p.Ile109= Single submitter Inborn genetic diseases
p.Ile131= Single submitter Inborn genetic diseases
p.Ile223= Single submitter Inborn genetic diseases

Uncertain significance 964

Showing the top 300 by review status; the full set is in the sitemap.

c.-231C>G Multiple submitters erythrocytosis, familial, 4
p.Ala439Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala463Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala698Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala758Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala81Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala83Asp Multiple submitters Inborn genetic diseases ⚠
p.Ala94Val Multiple submitters Inborn genetic diseases ⚠
p.Arg181Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg247His Multiple submitters ⚠
p.Arg550Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg602Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg658Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg825Gln Multiple submitters Inborn genetic diseases ⚠
p.Asp105Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp642Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp642Glu Multiple submitters Inborn genetic diseases ⚠
p.Cys174Gly Multiple submitters Inborn genetic diseases ⚠
p.Cys74Gly Multiple submitters Inborn genetic diseases ⚠
p.Gln589Arg Multiple submitters Inborn genetic diseases ⚠
p.Glu398Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu450Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly156Trp Multiple submitters Inborn genetic diseases ⚠
p.Gly648Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly663Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly774Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly860Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile223Leu Multiple submitters Inborn genetic diseases ⚠
p.Leu264Val Multiple submitters Inborn genetic diseases ⚠
p.Leu273Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu43Val Multiple submitters Inborn genetic diseases ⚠
p.Leu777Arg Multiple submitters Inborn genetic diseases ⚠
p.Met309Ile Multiple submitters Inborn genetic diseases ⚠
p.Phe583Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro329Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro44Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro576Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro579Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro619Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro619Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro643Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro670Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro776Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser424Tyr Multiple submitters Inborn genetic diseases ⚠
p.Ser672Cys Multiple submitters Inborn genetic diseases ⚠
p.Ser703Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr359Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr840Ala Multiple submitters ⚠
p.Trp639Arg Multiple submitters Inborn genetic diseases ⚠
p.Tyr427Phe Multiple submitters Inborn genetic diseases ⚠
p.Val654Ile Multiple submitters Inborn genetic diseases ⚠
p.Val694Met Multiple submitters Inborn genetic diseases ⚠
p.Val850Met Multiple submitters Inborn genetic diseases ⚠
c.1444-8_1444-7delinsTT Single submitter
c.26+8G>A Single submitter erythrocytosis, familial, 4
c.454+4T>C Single submitter
c.573+6G>T Single submitter
c.-111G>C Single submitter erythrocytosis, familial, 4
c.-138G>T Single submitter erythrocytosis, familial, 4
c.-200A>C Single submitter erythrocytosis, familial, 4
c.-237C>G Single submitter erythrocytosis, familial, 4
c.-255G>T Single submitter erythrocytosis, familial, 4
c.-316C>A Single submitter erythrocytosis, familial, 4
c.-347T>G Single submitter erythrocytosis, familial, 4
c.-357G>C Single submitter erythrocytosis, familial, 4
c.-401G>A Single submitter erythrocytosis, familial, 4
c.-452A>C Single submitter erythrocytosis, familial, 4
c.-86C>T Single submitter erythrocytosis, familial, 4
c.*1134T>C Single submitter erythrocytosis, familial, 4
c.*117T>A Single submitter erythrocytosis, familial, 4
c.*1182G>A Single submitter erythrocytosis, familial, 4
c.*1225C>T Single submitter erythrocytosis, familial, 4
c.*1278C>T Single submitter erythrocytosis, familial, 4
c.*1290C>T Single submitter erythrocytosis, familial, 4
c.*1305G>A Single submitter erythrocytosis, familial, 4
c.*1373C>G Single submitter erythrocytosis, familial, 4
c.*150T>G Single submitter erythrocytosis, familial, 4
c.*1611A>G Single submitter erythrocytosis, familial, 4
c.*1620G>C Single submitter erythrocytosis, familial, 4
c.*1729T>C Single submitter erythrocytosis, familial, 4
c.*1790G>A Single submitter erythrocytosis, familial, 4
c.*1827C>T Single submitter erythrocytosis, familial, 4
c.*1898C>A Single submitter erythrocytosis, familial, 4
c.*1916C>A Single submitter erythrocytosis, familial, 4
c.*1917G>A Single submitter erythrocytosis, familial, 4
c.*285C>G Single submitter erythrocytosis, familial, 4
c.*408T>C Single submitter erythrocytosis, familial, 4
c.*486C>T Single submitter erythrocytosis, familial, 4
c.*527G>T Single submitter erythrocytosis, familial, 4
c.*537T>G Single submitter erythrocytosis, familial, 4
c.*540del Single submitter
c.*594A>G Single submitter erythrocytosis, familial, 4
c.*833G>A Single submitter erythrocytosis, familial, 4
c.*898C>T Single submitter erythrocytosis, familial, 4
c.*90C>T Single submitter erythrocytosis, familial, 4
c.*983C>A Single submitter erythrocytosis, familial, 4
p.Ala22Val Single submitter Inborn genetic diseases ⚠
p.Ala23Val Single submitter Inborn genetic diseases ⚠
p.Ala277Thr Single submitter Inborn genetic diseases ⚠
p.Ala283Val Single submitter Inborn genetic diseases ⚠
p.Ala369Val Single submitter Inborn genetic diseases ⚠
p.Ala381Pro Single submitter Inborn genetic diseases ⚠
p.Ala401Gly Single submitter Inborn genetic diseases ⚠
p.Ala401Thr Single submitter Inborn genetic diseases ⚠
p.Ala404Pro Single submitter Inborn genetic diseases ⚠
p.Ala410Pro Single submitter Inborn genetic diseases ⚠
p.Ala410Val Single submitter Inborn genetic diseases ⚠
p.Ala426Asp Single submitter Inborn genetic diseases ⚠
p.Ala426Thr Single submitter Inborn genetic diseases ⚠
p.Ala430Ser Single submitter Inborn genetic diseases ⚠
p.Ala439Asp Single submitter Inborn genetic diseases ⚠
p.Ala439Ser Single submitter Inborn genetic diseases ⚠
p.Ala456Thr Single submitter Inborn genetic diseases ⚠
p.Ala462Glu Single submitter Inborn genetic diseases ⚠
p.Ala462Ser Single submitter Inborn genetic diseases ⚠
p.Ala462Thr Single submitter Inborn genetic diseases ⚠
p.Ala464Pro Single submitter Inborn genetic diseases ⚠
p.Ala464Ser Single submitter Inborn genetic diseases ⚠
p.Ala464Thr Single submitter Inborn genetic diseases ⚠
p.Ala506Asp Single submitter Inborn genetic diseases ⚠
p.Ala511Thr Single submitter Inborn genetic diseases ⚠
p.Ala530Glu Single submitter ⚠
p.Ala530Val Single submitter ⚠
p.Ala553Glu Single submitter Inborn genetic diseases ⚠
p.Ala553Thr Single submitter Inborn genetic diseases ⚠
p.Ala575Val Single submitter Inborn genetic diseases ⚠
p.Ala578Gly Single submitter Inborn genetic diseases ⚠
p.Ala60Val Single submitter Inborn genetic diseases ⚠
p.Ala624Thr Single submitter Inborn genetic diseases ⚠
p.Ala653Val Single submitter Inborn genetic diseases ⚠
p.Ala664Thr Single submitter Inborn genetic diseases ⚠
p.Ala664Val Single submitter Inborn genetic diseases ⚠
p.Ala665Met Single submitter
p.Ala665Val Single submitter Inborn genetic diseases ⚠
p.Ala684Val Single submitter Inborn genetic diseases ⚠
p.Ala698Asp Single submitter Inborn genetic diseases ⚠
p.Ala698Thr Single submitter Inborn genetic diseases ⚠
p.Ala718Asp Single submitter Inborn genetic diseases ⚠
p.Ala718Thr Single submitter Inborn genetic diseases ⚠
p.Ala718Val Single submitter Inborn genetic diseases ⚠
p.Ala805Pro Single submitter Inborn genetic diseases ⚠
p.Ala805Thr Single submitter Inborn genetic diseases ⚠
p.Ala816Ser Single submitter Inborn genetic diseases ⚠
p.Ala823Gly Single submitter Inborn genetic diseases ⚠
p.Ala83Gly Single submitter Inborn genetic diseases ⚠
p.Ala865Asp Single submitter Inborn genetic diseases ⚠
p.Ala865Pro Single submitter ⚠
p.Ala865Ser Single submitter Inborn genetic diseases ⚠
p.Ala865Val Single submitter Inborn genetic diseases ⚠
p.Ala869Ser Single submitter Inborn genetic diseases ⚠
p.Ala869Thr Single submitter Inborn genetic diseases ⚠
p.Ala94Gly Single submitter Inborn genetic diseases ⚠
p.Arg14Ser Single submitter Inborn genetic diseases ⚠
p.Arg166Gln Single submitter Inborn genetic diseases ⚠
p.Arg181His Single submitter Inborn genetic diseases ⚠
p.Arg20Gly Single submitter Inborn genetic diseases ⚠
p.Arg20Trp Single submitter Inborn genetic diseases ⚠
p.Arg247Cys Single submitter ⚠
p.Arg26Gln Single submitter Inborn genetic diseases ⚠
p.Arg26Trp Single submitter Inborn genetic diseases ⚠
p.Arg275His Single submitter ⚠
p.Arg27Gln Single submitter Inborn genetic diseases ⚠
p.Arg27Trp Single submitter Inborn genetic diseases ⚠
p.Arg308Gln Single submitter Inborn genetic diseases ⚠
p.Arg330His Single submitter Inborn genetic diseases ⚠
p.Arg443Trp Single submitter Inborn genetic diseases ⚠
p.Arg550Gln Single submitter ⚠
p.Arg602Gly Single submitter Inborn genetic diseases ⚠
p.Arg634Ser Single submitter Inborn genetic diseases ⚠
p.Arg690Pro Single submitter Inborn genetic diseases ⚠
p.Arg739Gln Single submitter Inborn genetic diseases ⚠
p.Arg739Leu Single submitter Inborn genetic diseases ⚠
p.Arg744Met Single submitter Inborn genetic diseases ⚠
p.Arg798Ser Single submitter Inborn genetic diseases ⚠
p.Arg825Leu Single submitter Inborn genetic diseases ⚠
p.Arg841Thr Single submitter Inborn genetic diseases ⚠
p.Asn151Ser Single submitter Inborn genetic diseases ⚠
p.Asn151Thr Single submitter Inborn genetic diseases ⚠
p.Asn178Ser Single submitter Inborn genetic diseases ⚠
p.Asn184Asp Single submitter Inborn genetic diseases ⚠
p.Asn184Lys Single submitter Inborn genetic diseases ⚠
p.Asn203Lys Single submitter Inborn genetic diseases ⚠
p.Asn204Asp Single submitter Inborn genetic diseases ⚠
p.Asn204Ser Single submitter Inborn genetic diseases ⚠
p.Asn288Thr Single submitter Inborn genetic diseases ⚠
p.Asn328Ile Single submitter Inborn genetic diseases ⚠
p.Asn328Lys Single submitter Inborn genetic diseases ⚠
p.Asn331His Single submitter Inborn genetic diseases ⚠
p.Asn331Ser Single submitter Inborn genetic diseases ⚠
p.Asn341Ser Single submitter Inborn genetic diseases ⚠
p.Asn371Ile Single submitter Inborn genetic diseases ⚠
p.Asn387His Single submitter Inborn genetic diseases ⚠
p.Asn418Tyr Single submitter Inborn genetic diseases ⚠
p.Asn420Thr Single submitter Inborn genetic diseases ⚠
p.Asn522Asp Single submitter Inborn genetic diseases ⚠
p.Asn522Lys Single submitter Inborn genetic diseases ⚠
p.Asn522Ser Single submitter ⚠
p.Asn522Tyr Single submitter Inborn genetic diseases ⚠
p.Asn555Asp Single submitter Inborn genetic diseases ⚠
p.Asn569Asp Single submitter Inborn genetic diseases ⚠
p.Asn569His Single submitter Inborn genetic diseases ⚠
p.Asn569Lys Single submitter Inborn genetic diseases ⚠
p.Asn636His Single submitter Inborn genetic diseases ⚠
p.Asn636Ile Single submitter Inborn genetic diseases ⚠
p.Asn636Ser Single submitter Inborn genetic diseases ⚠
p.Asn704Lys Single submitter Inborn genetic diseases ⚠
p.Asn742Lys Single submitter Inborn genetic diseases ⚠
p.Asn759Asp Single submitter Inborn genetic diseases ⚠
p.Asn759His Single submitter Inborn genetic diseases ⚠
p.Asn759Lys Single submitter Inborn genetic diseases ⚠
p.Asn762Asp Single submitter Inborn genetic diseases ⚠
p.Asn762Ile Single submitter Inborn genetic diseases ⚠
p.Asn762Ser Single submitter Inborn genetic diseases ⚠
p.Asn762Thr Single submitter Inborn genetic diseases ⚠
p.Asn77Asp Single submitter Inborn genetic diseases ⚠
p.Asn794Ile Single submitter Inborn genetic diseases ⚠
p.Asn847Lys Single submitter Inborn genetic diseases ⚠
p.Asp105His Single submitter Inborn genetic diseases ⚠
p.Asp107His Single submitter Inborn genetic diseases ⚠
p.Asp133Asn Single submitter Inborn genetic diseases ⚠
p.Asp161Gly Single submitter Inborn genetic diseases ⚠
p.Asp161His Single submitter Inborn genetic diseases ⚠
p.Asp167His Single submitter Inborn genetic diseases ⚠
p.Asp240Asn Single submitter Inborn genetic diseases ⚠
p.Asp251Asn Single submitter Inborn genetic diseases ⚠
p.Asp258His Single submitter Inborn genetic diseases ⚠
p.Asp285Asn Single submitter Inborn genetic diseases ⚠
p.Asp285Tyr Single submitter Inborn genetic diseases ⚠
p.Asp357Asn Single submitter Inborn genetic diseases ⚠
p.Asp357Glu Single submitter Inborn genetic diseases ⚠
p.Asp375Asn Single submitter Inborn genetic diseases ⚠
p.Asp375Tyr Single submitter Inborn genetic diseases ⚠
p.Asp415Ala Single submitter Inborn genetic diseases ⚠
p.Asp415Asn Single submitter Inborn genetic diseases ⚠
p.Asp487Asn Single submitter Inborn genetic diseases ⚠
p.Asp487Glu Single submitter Inborn genetic diseases ⚠
p.Asp495Asn Single submitter Inborn genetic diseases ⚠
p.Asp513Glu Single submitter Inborn genetic diseases ⚠
p.Asp513Val Single submitter Inborn genetic diseases ⚠
p.Asp520Gly Single submitter Inborn genetic diseases ⚠
p.Asp52His Single submitter Inborn genetic diseases ⚠
p.Asp610Glu Single submitter Inborn genetic diseases ⚠
p.Asp610Gly Single submitter Inborn genetic diseases ⚠
p.Asp610His Single submitter Inborn genetic diseases ⚠
p.Asp642Ala Single submitter Inborn genetic diseases ⚠
p.Asp642Val Single submitter Inborn genetic diseases ⚠
p.Asp656Asn Single submitter Inborn genetic diseases ⚠
p.Asp656Glu Single submitter Inborn genetic diseases ⚠
p.Asp656Tyr Single submitter Inborn genetic diseases ⚠
p.Asp693Glu Single submitter Inborn genetic diseases ⚠
p.Asp721Tyr Single submitter Inborn genetic diseases ⚠
p.Asp726His Single submitter Inborn genetic diseases ⚠
p.Asp726Tyr Single submitter Inborn genetic diseases ⚠
p.Asp753Asn Single submitter Inborn genetic diseases ⚠
p.Asp753Glu Single submitter Inborn genetic diseases ⚠
p.Asp843His Single submitter Inborn genetic diseases ⚠
p.Asp843Val Single submitter Inborn genetic diseases ⚠
p.Asp84Glu Single submitter Inborn genetic diseases ⚠
p.Asp84Tyr Single submitter Inborn genetic diseases ⚠
p.Asp861Glu Single submitter Inborn genetic diseases ⚠
p.Asp861His Single submitter Inborn genetic diseases ⚠
p.Asp861Tyr Single submitter Inborn genetic diseases ⚠
p.Asp867Ala Single submitter Inborn genetic diseases ⚠
p.Asp88His Single submitter ⚠
p.Cys138Tyr Single submitter Inborn genetic diseases ⚠
p.Cys205Tyr Single submitter Inborn genetic diseases ⚠
p.Cys212Arg Single submitter Inborn genetic diseases ⚠
p.Cys257Gly Single submitter Inborn genetic diseases ⚠
p.Cys25Arg Single submitter Inborn genetic diseases ⚠
p.Cys25Ser Single submitter Inborn genetic diseases ⚠
p.Cys336Arg Single submitter Inborn genetic diseases ⚠
p.Cys479Ser Single submitter Inborn genetic diseases ⚠
p.Cys515Tyr Single submitter Inborn genetic diseases ⚠
p.Cys546Tyr Single submitter Inborn genetic diseases ⚠
p.Cys563Tyr Single submitter Inborn genetic diseases ⚠
p.Cys621Tyr Single submitter Inborn genetic diseases ⚠
p.Cys748Gly Single submitter Inborn genetic diseases ⚠
p.Cys748Ser Single submitter Inborn genetic diseases ⚠
p.Cys74Arg Single submitter Inborn genetic diseases ⚠
p.Cys74Ser Single submitter Inborn genetic diseases ⚠
p.Cys803Arg Single submitter Inborn genetic diseases ⚠
p.Cys844Arg Single submitter ⚠
p.Gln104Lys Single submitter Inborn genetic diseases ⚠
p.Gln294His Single submitter erythrocytosis, familial, 4 ⚠
p.Gln301His Single submitter Inborn genetic diseases ⚠
p.Gln301Leu Single submitter Inborn genetic diseases ⚠
p.Gln306Arg Single submitter Inborn genetic diseases ⚠
p.Gln306Glu Single submitter Inborn genetic diseases ⚠
p.Gln306His Single submitter Inborn genetic diseases ⚠
p.Gln333Lys Single submitter Inborn genetic diseases ⚠
p.Gln335Arg Single submitter Inborn genetic diseases ⚠
p.Gln335His Single submitter Inborn genetic diseases ⚠
p.Gln358Leu Single submitter Inborn genetic diseases ⚠
p.Gln402= Single submitter erythrocytosis, familial, 4
p.Gln419Arg Single submitter Inborn genetic diseases ⚠
p.Gln436Lys Single submitter Inborn genetic diseases ⚠
p.Gln448Glu Single submitter Inborn genetic diseases ⚠
p.Gln448His Single submitter Inborn genetic diseases ⚠
p.Gln461Arg Single submitter Inborn genetic diseases ⚠
p.Gln461His Single submitter Inborn genetic diseases ⚠