APTX — 322 ClinVar variants
All ClinVar germline APTX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
22 Pathogenic · 6 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 18 Conflicting · 35 Benign · 16 Benign/Likely benign · 102 Likely benign · 112 Uncertain significance
Full APTX gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll APTX variants
Pathogenic 22
- p.Arg247Ter Multiple submitters epilepsy
- p.Gln187Ter Multiple submitters
- p.Trp279Ter Multiple submitters Inborn genetic diseases
- p.Val259fs Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.484-1G>T Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.544-1G>C Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Ala198fs Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Gln266Ter Single submitter
- p.Gln77fs Single submitter
- p.Glu101fs Single submitter
- p.Glu232fs Single submitter Inborn genetic diseases
- p.Glu232Ter Single submitter
- p.His112fs Single submitter
- p.Leu213fs Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Leu223Phe Single submitter
- p.Lys197fs Single submitter
- p.Ser281fs Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.875-1G>A No assertion criteria ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.His201Arg No assertion criteria ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Lys233Ter No assertion criteria ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Pro206Leu No assertion criteria ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Val263Gly No assertion criteria ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Pathogenic/Likely pathogenic 6
- c.875-2A>G Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Arg16Ter Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Arg199fs Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Arg42Ter Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Gln130Ter Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Trp279Arg Multiple submitters
Likely pathogenic 11
- p.Ala198Val Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.484-1G>C Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.874+1del Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Gln169fs Single submitter
- p.Gly137fs Single submitter
- p.His201Gln Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.His201Tyr Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Leu223Pro Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Lys243fs Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Ser118Ter Single submitter
- p.Thr229fs Single submitter
Conflicting classifications of pathogenicity 18
- c.134-12A>C Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.484-25_484-10del Single submitter
- c.484-3_484-2insTTTTTTTTTTTG Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.544-4C>T Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.770+10G>T Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.771-5A>G Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.-45C>G Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.-5+1G>T Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Ala132= Single submitter
- p.Arg245His Single submitter
- p.Gln324Leu Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Leu171= Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Leu248Met Single submitter Inborn genetic diseases
- p.Leu312fs Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Lys314fs Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Ser12Asn Single submitter Inborn genetic diseases
- p.Trp6Cys Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Val72Ile Single submitter Inborn genetic diseases
Benign 35
- c.134-58G>A Multiple submitters
- c.483+247A>G Multiple submitters
- c.483+91C>T Multiple submitters
- c.484-12_484-11insG Multiple submitters
- c.484-12T>G Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.484-220A>G Multiple submitters
- c.484-25_484-4del Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.484-25_484-6del Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.484-3dup Multiple submitters
- c.543+30A>C Multiple submitters
- c.771-13_771-12dup Multiple submitters
- c.771-20dup Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.874+84G>A Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.875-127G>A Multiple submitters
- c.-194C>G Multiple submitters
- c.-4-11772C>T Multiple submitters
- c.-4-11820G>C Multiple submitters
- c.-4-11846G>A Multiple submitters
- c.-4-239A>G Multiple submitters
- c.-5+116G>T Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.-5+117C>G Multiple submitters
- c.-5+124C>T Multiple submitters
- c.-5+4188C>T Multiple submitters
- c.-5+4415A>T Multiple submitters
- p.Asn106= Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.484-20_484-19insG Single submitter
- c.484-4_484-3del Single submitter
- c.770+238T>C Single submitter
- c.771-326G>A Single submitter
- c.875-60del Single submitter
- c.-4-317G>A Single submitter
- c.-5+4198_-5+4199insTC Single submitter
- c.-5+4314A>T Single submitter
- c.*454G>C Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Val230= Single submitter
Benign/Likely benign 16
- c.484-13_484-12delinsTG Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.484-13G>T Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.484-15_484-3del Multiple submitters
- c.484-25_484-5del Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.484-25_484-9del Multiple submitters
- c.484-3del Multiple submitters
- c.-5+16G>T Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.*141G>A Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.*187G>C Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.*606G>A Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.*756G>A Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.*806G>A Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Arg199His Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Lys153Glu Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Pro254= Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Ser144Tyr Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Likely benign 102
- c.133+209G>A Multiple submitters
- c.134-214G>T Multiple submitters
- c.483+256C>T Multiple submitters
- c.484-13del Multiple submitters
- c.484-25_484-3del Multiple submitters
- c.484-26_484-3del Multiple submitters
- c.484-29T>G Multiple submitters
- c.484-32T>G Multiple submitters
- c.544-22T>A Multiple submitters
- c.-4-108C>T Multiple submitters
- p.Arg126= Multiple submitters
- p.Asn143= Multiple submitters
- p.Tyr195= Multiple submitters
- c.133+18dup Single submitter
- c.134-11A>T Single submitter
- c.134-12A>G Single submitter
- c.134-7C>T Single submitter
- c.180+13A>G Single submitter
- c.180+7G>A Single submitter
- c.181-9_181-8del Single submitter
- c.483+232T>G Single submitter
- c.483+7G>A Single submitter
- c.484-11_484-10insTG Single submitter
- c.484-11_484-10insTGTTTTG Single submitter
- c.484-11T>G Single submitter
- c.484-12_484-11insGTTTTTTTTTTTTTG Single submitter
- c.484-12T>A Single submitter
- c.484-13_484-10del Single submitter
- c.484-13_484-9del Single submitter
- c.484-16_484-15insG Single submitter
- c.484-18_484-17insG Single submitter
- c.484-18T>G Single submitter
- c.484-19_484-18insG Single submitter
- c.484-19T>G Single submitter
- c.484-20_484-19insTG Single submitter
- c.484-25_484-11del Single submitter
- c.484-25_484-12del Single submitter
- c.484-25_484-7del Single submitter
- c.484-25_484-8del Single submitter
- c.484-3_484-2insTTTTTTTTTTG Single submitter
- c.484-3_484-2insTTTTTTTTTTTTG Single submitter
- c.484-30T>G Single submitter
- c.484-4_484-3dup Single submitter
- c.484-90A>G Single submitter
- c.543+12A>G Single submitter
- c.543+20A>G Single submitter
- c.543+26G>C Single submitter
- c.770+47G>A Single submitter
- c.770+7C>G Single submitter
- c.770+9G>A Single submitter
- c.771-105A>T Single submitter
- c.771-119A>G Single submitter
- c.771-14_771-12del Single submitter
- c.771-283G>A Single submitter
- c.771-339dup Single submitter
- c.874+10G>T Single submitter
- c.874+17G>C Single submitter
- c.875-208G>A Single submitter
- c.875-61_875-60del Single submitter
- c.875-77dup Single submitter
- c.-194C>T Single submitter
- c.-4-285AAAT[4] Single submitter
- c.-5+10T>C Single submitter
- c.-5+4231dup Single submitter
- c.-5+4305C>G Single submitter
- c.-5+4328C>T Single submitter
- c.-5+4332C>A Single submitter
- c.-55C>T Single submitter
- c.*293C>G Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Ala157= Single submitter
- p.Ala217Thr Single submitter Inborn genetic diseases
- p.Ala24= Single submitter
- p.Ala300= Single submitter
- p.Arg113Gly Single submitter
- p.Arg18= Single submitter
- p.Arg29= Single submitter
- p.Cys147= Single submitter
- p.Glu186= Single submitter
- p.Glu299= Single submitter
- p.Glu50= Single submitter
- p.Glu92= Single submitter
- p.Gly240= Single submitter
- p.Gly30= Single submitter
- p.His201= Single submitter
- p.His251= Single submitter
- p.His278= Single submitter
- p.His320= Single submitter
- p.Leu164= Single submitter
- p.Leu336= Single submitter
- p.Lys214= Single submitter
- p.Lys314= Single submitter
- p.Lys53= Single submitter
- p.Pro206= Single submitter
- p.Pro316= Single submitter
- p.Pro95= Single submitter
- p.Ser211= Single submitter
- p.Ser70= Single submitter
- p.Thr111= Single submitter
- p.Thr36= Single submitter
- p.Val259= Single submitter
- p.Val305= Single submitter
- p.Val71= Single submitter
Uncertain significance 112
- p.Arg199Cys Multiple submitters
- p.Arg247Gln Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Arg29His Multiple submitters Inborn genetic diseases
- p.Arg318His Multiple submitters
- p.Arg3Gln Multiple submitters Inborn genetic diseases
- p.Asn120Ser Multiple submitters Inborn genetic diseases
- p.Asn64Ser Multiple submitters
- p.Asp237Gly Multiple submitters
- p.Glu103Lys Multiple submitters Inborn genetic diseases
- p.Glu125Asp Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Glu131Lys Multiple submitters Inborn genetic diseases
- p.His166Tyr Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.His258Arg Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.His320Leu Multiple submitters Inborn genetic diseases
- p.His335Tyr Multiple submitters
- p.Ile124Leu Multiple submitters Inborn genetic diseases
- p.Ile17Phe Multiple submitters Inborn genetic diseases
- p.Ile27Thr Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Leu164Pro Multiple submitters Inborn genetic diseases
- p.Lys34Asn Multiple submitters
- p.Lys57Arg Multiple submitters ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Pro316Ser Multiple submitters Inborn genetic diseases
- p.Tyr183Cys Multiple submitters Inborn genetic diseases
- p.Val61Ile Multiple submitters Inborn genetic diseases
- c.134-11A>G Single submitter
- c.484-2A>T Single submitter Inborn genetic diseases
- c.484-3T>A Single submitter
- c.874+10G>A Single submitter
- c.874+14C>G Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.874+6_874+7del Single submitter
- c.875-3C>T Single submitter
- c.-187C>T Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.-5+4337A>G Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.-5+6G>A Single submitter
- c.-5G>A Single submitter
- c.*215G>C Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.*310G>A Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.*363C>T Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.*476C>T Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.*605G>A Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.*610G>C Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.*636C>T Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.*858C>G Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Ala104Thr Single submitter
- p.Ala157Val Single submitter
- p.Ala292Thr Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Ala300Val Single submitter
- p.Arg115Gly Single submitter
- p.Arg117Thr Single submitter
- p.Arg13Gln Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Arg13Trp Single submitter
- p.Arg18Ser Single submitter
- p.Arg245Cys Single submitter Inborn genetic diseases
- p.Arg29Cys Single submitter
- p.Arg318Cys Single submitter Inborn genetic diseases
- p.Arg318Ser Single submitter
- p.Arg3Pro Single submitter Inborn genetic diseases
- p.Arg42Pro Single submitter Inborn genetic diseases
- p.Asn91Asp Single submitter
- p.Cys272Arg Single submitter
- p.Cys40Trp Single submitter
- p.Cys5Tyr Single submitter
- p.Gln169Glu Single submitter
- p.Gln291= Single submitter
- p.Gln44= Single submitter
- p.Gln44Leu Single submitter
- p.Glu102Lys Single submitter
- p.Glu285Gly Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Glu285Lys Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Glu32Gln Single submitter
- p.Gly240Val Single submitter
- p.Gly301Val Single submitter
- p.Gly30Asp Single submitter
- p.Gly62Glu Single submitter Inborn genetic diseases
- p.His201Leu Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.His260Arg Single submitter
- p.Ile124Val Single submitter
- p.Ile235Met Single submitter Inborn genetic diseases
- p.Ile73Thr Single submitter
- p.Leu244Phe Single submitter Inborn genetic diseases
- p.Leu248= Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Leu315Pro Single submitter Inborn genetic diseases
- p.Leu317Phe Single submitter Inborn genetic diseases
- p.Leu326fs Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Lys233Asn Single submitter Inborn genetic diseases
- p.Met1Ile Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- p.Met227Thr Single submitter Inborn genetic diseases
- p.Met227Val Single submitter Inborn genetic diseases
- p.Met2Ile Single submitter
- p.Met2Leu Single submitter
- p.Met309Ile Single submitter Inborn genetic diseases
- p.Met89Val Single submitter Inborn genetic diseases
- p.Pro196Ser Single submitter
- p.Pro254Leu Single submitter Inborn genetic diseases
- p.Pro330His Single submitter
- p.Pro65Arg Single submitter
- p.Ser121Asn Single submitter Inborn genetic diseases
- p.Ser142Asn Single submitter Inborn genetic diseases
- p.Ser212Ile Single submitter Inborn genetic diseases
- p.Ser242Asn Single submitter
- p.Ser242Gly Single submitter Inborn genetic diseases
- p.Ser270Phe Single submitter
- p.Ser67Arg Single submitter Inborn genetic diseases
- p.Ser67Asn Single submitter
- p.Thr229= Single submitter
- p.Thr284Ile Single submitter Inborn genetic diseases
- p.Tyr55Cys Single submitter
- p.Val188Leu Single submitter Inborn genetic diseases
- p.Val236Ala Single submitter
- p.Val303Ile Single submitter
- p.Val61= Single submitter ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- c.-5+2T>G No assertion criteria coenzyme Q10 deficiency, primary, 1