AGK — 400 ClinVar variants
All ClinVar germline AGK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 123 flagged for review →
34 Pathogenic · 4 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 24 Conflicting · 24 Benign · 10 Benign/Likely benign · 145 Likely benign · 146 Uncertain significance
Full AGK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 123
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 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
AGK p.Ala288Val
Conflicting
Single submitter
cataract 38
-
AGK p.Asn10Ser
Conflicting
Single submitter
Inborn genetic diseases
-
AGK p.Asn263Ser
Conflicting
Single submitter
cataract 38
-
AGK p.Leu19Phe
Conflicting
Single submitter
Inborn genetic diseases
-
AGK p.Leu294Ile
Conflicting
Single submitter
Sengers syndrome
-
AGK p.Pro324Leu
Conflicting
Single submitter
Inborn genetic diseases
-
AGK p.Thr207Ala
Conflicting
Single submitter
cataract 38
Predictors lean, ClinVar uncertain 62
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
AGK p.Ala42Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGK p.Ala71Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGK p.Arg137Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGK p.Arg351Gln
Uncertain significance
Multiple submitters
Sengers syndrome
-
AGK p.Arg9Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGK p.Asn115His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGK p.Asn68Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGK p.Glu111Gln
Uncertain significance
Multiple submitters
Sengers syndrome
-
AGK p.Gly208Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGK p.His248Tyr
Uncertain significance
Multiple submitters
Sengers syndrome
-
AGK p.Ile120Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGK p.Ile348Val
Uncertain significance
Multiple submitters
cataract 38
-
AGK p.Leu294Pro
Uncertain significance
Multiple submitters
Sengers syndrome
-
AGK p.Leu404Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGK p.Lys171Glu
Uncertain significance
Multiple submitters
Sengers syndrome
-
AGK p.Pro269Thr
Uncertain significance
Multiple submitters
Sengers syndrome
-
AGK p.Pro86Leu
Uncertain significance
Multiple submitters
cataract 38
-
AGK p.Thr127Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGK p.Thr255Met
Uncertain significance
Multiple submitters
Sengers syndrome
-
AGK p.Tyr224Cys
Uncertain significance
Multiple submitters
Sengers syndrome
-
AGK p.Val219Ile
Uncertain significance
Multiple submitters
Sengers syndrome
- AGK p.Ala379Val Uncertain significance Single submitter
-
AGK p.Ala58Val
Uncertain significance
Single submitter
Sengers syndrome
-
AGK p.Arg138Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- AGK p.Arg318Gln Uncertain significance Single submitter
-
AGK p.Arg9Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- AGK p.Asp125His Uncertain significance Single submitter
-
AGK p.Asp292Asn
Uncertain significance
Single submitter
cataract 38
-
AGK p.Glu167Lys
Uncertain significance
Single submitter
cataract 38
-
AGK p.Glu301Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGK p.Glu301Lys
Uncertain significance
Single submitter
Sengers syndrome
-
AGK p.Gly134Asp
Uncertain significance
Single submitter
Sengers syndrome
-
AGK p.Gly185Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGK p.Gly378Glu
Uncertain significance
Single submitter
cataract 38
- AGK p.Gly50Val Uncertain significance Single submitter
- AGK p.His11Gln Uncertain significance Single submitter
-
AGK p.His174Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGK p.His27Arg
Uncertain significance
Single submitter
Sengers syndrome
-
AGK p.Ile149Thr
Uncertain significance
Single submitter
cataract 38
-
AGK p.Ile182Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGK p.Ile252Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGK p.Ile311Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGK p.Ile340Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGK p.Ile385Thr
Uncertain significance
Single submitter
Sengers syndrome
-
AGK p.Ile97Val
Uncertain significance
Single submitter
Sengers syndrome
- AGK p.Leu154Pro Uncertain significance Single submitter
- AGK p.Met113Ile Uncertain significance Single submitter
-
AGK p.Met93Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGK p.Phe237Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGK p.Pro262Leu
Uncertain significance
Single submitter
Sengers syndrome
-
AGK p.Pro86Arg
Uncertain significance
Single submitter
Sengers syndrome
-
AGK p.Ser213Pro
Uncertain significance
Single submitter
cataract 38
-
AGK p.Ser213Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- AGK p.Ser299Thr Uncertain significance Single submitter
- AGK p.Ser350Gly Uncertain significance Single submitter
-
AGK p.Thr157Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGK p.Thr163Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGK p.Thr255Ala
Uncertain significance
Single submitter
cataract 38
-
AGK p.Thr78Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGK p.Val188Ile
Uncertain significance
Single submitter
cataract 38
-
AGK p.Val360Gly
Uncertain significance
Single submitter
cataract 38
-
AGK p.Val360Met
Uncertain significance
Single submitter
Sengers syndrome
Predictors split 54
The independent predictors disagree with each other — read with care.
-
AGK p.Asn36Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGK p.Glu259Gly
Uncertain significance
Multiple submitters
Sengers syndrome
-
AGK p.His248Pro
Uncertain significance
Multiple submitters
Sengers syndrome
-
AGK p.Ile149Val
Uncertain significance
Multiple submitters
cataract 38
-
AGK p.Ile335Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGK p.Phe204Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGK p.Pro300Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGK p.Pro376Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGK p.Ser350Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGK p.Thr372Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGK p.Thr64Ala
Uncertain significance
Multiple submitters
Sengers syndrome
-
AGK p.Thr7Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGK p.Ala181Asp
Uncertain significance
Single submitter
Sengers syndrome
-
AGK p.Ala217Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- AGK p.Ala234Val Uncertain significance Single submitter
-
AGK p.Ala392Val
Uncertain significance
Single submitter
Sengers syndrome
-
AGK p.Arg282Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- AGK p.Arg351Pro Likely benign Single submitter
-
AGK p.Arg9Gln
Conflicting
Single submitter
cataract 38
-
AGK p.Asp140Glu
Uncertain significance
Single submitter
Sengers syndrome
- AGK p.Gln249His Uncertain significance Single submitter
-
AGK p.Glu111Lys
Uncertain significance
Single submitter
Sengers syndrome
-
AGK p.Glu114Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGK p.Glu186Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGK p.Glu328Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGK p.Glu81Lys
Uncertain significance
Single submitter
cataract 38
-
AGK p.Gly197Asp
Uncertain significance
Single submitter
Sengers syndrome
-
AGK p.Gly31Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGK p.Gly349Arg
Uncertain significance
Single submitter
cataract 38
-
AGK p.His27Pro
Uncertain significance
Single submitter
Sengers syndrome
-
AGK p.Ile119Val
Uncertain significance
Single submitter
cataract 38
-
AGK p.Ile182Leu
Uncertain significance
Single submitter
Sengers syndrome
-
AGK p.Leu358Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGK p.Lys403Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGK p.Lys62Asn
Conflicting
Single submitter
Inborn genetic diseases
-
AGK p.Lys73Glu
Uncertain significance
Single submitter
cataract 38
-
AGK p.Lys75Glu
Uncertain significance
Single submitter
AGK-related disorder
-
AGK p.Lys82Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGK p.Phe237Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGK p.Phe49Val
Uncertain significance
Single submitter
Sengers syndrome
- AGK p.Phe4Cys Uncertain significance Single submitter
- AGK p.Pro269Ser Uncertain significance Single submitter
-
AGK p.Ser158Gly
Uncertain significance
Single submitter
cataract 38
-
AGK p.Ser285Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGK p.Thr116Met
Uncertain significance
Single submitter
Inborn genetic diseases
- AGK p.Thr16Ile Uncertain significance Single submitter
-
AGK p.Thr268Asn
Conflicting
Single submitter
cataract 38
-
AGK p.Thr363Met
Conflicting
Single submitter
Sengers syndrome
-
AGK p.Thr96Ile
Uncertain significance
Single submitter
cataract 38
-
AGK p.Tyr224His
Uncertain significance
Single submitter
Sengers syndrome
-
AGK p.Val118Met
Uncertain significance
Single submitter
cataract 38
-
AGK p.Val121Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGK p.Val270Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGK p.Val397Met
Uncertain significance
Single submitter
Inborn genetic diseases
All AGK variants
Pathogenic 34
- c.297+2T>C Multiple submitters Sengers syndrome
- c.518+1G>A Multiple submitters AGK-related disorder
- p.Arg137Ter Multiple submitters Sengers syndrome
- p.Arg138Ter Multiple submitters Inborn genetic diseases
- p.Arg281Ter Multiple submitters cataract 38
- c.102-1G>T Single submitter
- c.1046_1046+1dup Single submitter Sengers syndrome
- c.1131+2T>C Single submitter Sengers syndrome
- c.221+1dup Single submitter
- c.298-2A>G Single submitter Sengers syndrome
- c.390+1G>T Single submitter Inborn genetic diseases
- p.Arg137fs Single submitter Sengers syndrome
- p.Arg210Ter Single submitter Sengers syndrome
- p.Arg9Ter Single submitter cataract 38
- p.Gln291Ter Single submitter Sengers syndrome
- p.Glu130Ter Single submitter Sengers syndrome
- p.Ile120fs Single submitter cataract 38
- p.Ile346fs Single submitter cataract 38
- p.Ile348fs Single submitter Sengers syndrome
- p.Leu90Ter Single submitter Sengers syndrome
- p.Lys327Ter Single submitter
- p.Met1Ile Single submitter Sengers syndrome
- p.Trp211Ter Single submitter cataract 38
- p.Trp24Ter Single submitter Sengers syndrome
- p.Trp287Ter Single submitter Sengers syndrome
- p.Tyr390fs Single submitter Sengers syndrome
- c.1131+5G>A No assertion criteria Sengers syndrome
- c.141+2T>C No assertion criteria Sengers syndrome
- c.975+1G>T No assertion criteria Sengers syndrome
- p.Asn51fs No assertion criteria hypercholesterolemia, familial, 1
- p.Gln173Ter No assertion criteria Sengers syndrome
- p.Tyr102Ter No assertion criteria Sengers syndrome
- p.Tyr224Ter No assertion criteria Sengers syndrome
- p.Tyr390Ter No assertion criteria Sengers syndrome
Pathogenic/Likely pathogenic 4
- c.1047-2A>T Multiple submitters Sengers syndrome
- c.424-3C>G Multiple submitters Inborn genetic diseases
- p.Ile175fs Multiple submitters Sengers syndrome
- p.Ser382fs Multiple submitters cataract 38
Likely pathogenic 13
- c.222-2A>C Multiple submitters Sengers syndrome
- c.390+1G>A Single submitter cataract 38
- c.519-1G>A Single submitter Sengers syndrome
- c.519-2A>G Single submitter Sengers syndrome
- c.877+2T>G Single submitter Sengers syndrome
- c.976-1G>C Single submitter Sengers syndrome
- p.Cys371Ter Single submitter Sengers syndrome
- p.Gln370Ter Single submitter mitochondrial disease
- p.Glu328Ter Single submitter Sengers syndrome
- p.Leu404_Lys412del Single submitter Sengers syndrome
- p.Phe383_Ser384insTer Single submitter Sengers syndrome
- p.Glu130= No assertion criteria Sengers syndrome
- p.Phe406fs No assertion criteria Sengers syndrome
Conflicting classifications of pathogenicity 24
- c.101+7A>C Single submitter Sengers syndrome
- c.1131+11A>G Single submitter cataract 38
- c.424-11T>C Single submitter Sengers syndrome
- c.727-9C>T Single submitter Sengers syndrome
- c.877+14C>T Single submitter cataract 38
- c.877+15G>A Single submitter cataract 38
- c.976-9C>T Single submitter Sengers syndrome
- c.-14-3T>C Single submitter cataract 38
- c.*1024C>T Single submitter Sengers syndrome
- p.Ala288Val Single submitter cataract 38 ⚠
- p.Arg9Gln Single submitter cataract 38 ⚠
- p.Asn10Ser Single submitter Inborn genetic diseases ⚠
- p.Asn263Ser Single submitter cataract 38 ⚠
- p.Gln321= Single submitter Sengers syndrome
- p.Gly228= Single submitter Sengers syndrome
- p.Leu19Phe Single submitter Inborn genetic diseases ⚠
- p.Leu294Ile Single submitter Sengers syndrome ⚠
- p.Leu366= Single submitter Sengers syndrome
- p.Lys14= Single submitter cataract 38
- p.Lys62Asn Single submitter Inborn genetic diseases ⚠
- p.Pro324Leu Single submitter Inborn genetic diseases ⚠
- p.Thr207Ala Single submitter cataract 38 ⚠
- p.Thr268Asn Single submitter cataract 38 ⚠
- p.Thr363Met Single submitter Sengers syndrome ⚠
Benign 24
- c.1132-40T>G Multiple submitters
- c.391-59C>A Multiple submitters
- c.518+18G>A Multiple submitters Sengers syndrome
- c.669-212G>A Multiple submitters
- c.726+157G>A Multiple submitters
- c.976-149T>C Multiple submitters
- c.-15+31C>G Multiple submitters
- c.*1175C>T Multiple submitters cataract 38
- c.*141C>T Multiple submitters cataract 38
- c.101+242A>G Single submitter
- c.1046+13G>C Single submitter Sengers syndrome
- c.1047-235A>G Single submitter
- c.142-10del Single submitter Sengers syndrome
- c.424-3del Single submitter Sengers syndrome
- c.518+81del Single submitter
- c.588+211A>T Single submitter
- c.589-266A>C Single submitter
- c.669-6del Single submitter cataract 38
- c.726+187T>C Single submitter
- c.975+16dup Single submitter Sengers syndrome
- c.976-152del Single submitter
- c.976-152dup Single submitter
- c.-14-269A>G Single submitter
- c.*1210A>T Single submitter cataract 38
Benign/Likely benign 10
- c.101+5C>T Multiple submitters cataract 38
- c.297+18A>G Multiple submitters Sengers syndrome
- c.424-3dup Multiple submitters cataract 38
- c.424-4C>A Multiple submitters cataract 38
- c.424-4C>G Multiple submitters Sengers syndrome
- c.424-5C>T Multiple submitters Sengers syndrome
- c.*184C>T Multiple submitters cataract 38
- c.*320G>A Multiple submitters cataract 38
- p.Lys6Arg Multiple submitters Sengers syndrome
- p.Thr268= Multiple submitters Sengers syndrome
Likely benign 145
- c.1047-8G>A Multiple submitters cataract 38
- c.298-194C>T Multiple submitters
- c.424-5C>G Multiple submitters cataract 38
- c.519-4_519-3del Multiple submitters Sengers syndrome
- c.519-5T>C Multiple submitters Sengers syndrome
- c.589-20G>T Multiple submitters Sengers syndrome
- c.877+179A>C Multiple submitters
- c.976-20A>G Multiple submitters Sengers syndrome
- c.976-47T>G Multiple submitters
- p.Ala166= Multiple submitters Sengers syndrome
- p.Ala284= Multiple submitters Sengers syndrome
- p.Gln52= Multiple submitters cataract 38
- p.His359= Multiple submitters Sengers syndrome
- p.Leu109= Multiple submitters Sengers syndrome
- p.Thr139Arg Multiple submitters Sengers syndrome
- p.Thr7= Multiple submitters Sengers syndrome
- c.101+13C>G Single submitter Sengers syndrome
- c.101+13C>T Single submitter cataract 38
- c.101+4_101+7dup Single submitter cataract 38
- c.102-181_102-165del Single submitter
- c.1046+11T>C Single submitter Sengers syndrome
- c.1046+266G>C Single submitter
- c.1046+7G>T Single submitter Sengers syndrome
- c.1047-12C>G Single submitter Sengers syndrome
- c.1047-5C>T Single submitter Sengers syndrome
- c.1047-7C>T Single submitter Sengers syndrome
- c.1131+19G>A Single submitter cataract 38
- c.1132-139dup Single submitter
- c.1132-13C>A Single submitter Sengers syndrome
- c.1132-272G>T Single submitter
- c.141+16del Single submitter Sengers syndrome
- c.141+201C>T Single submitter
- c.141+267C>T Single submitter
- c.142-11T>C Single submitter Sengers syndrome
- c.142-14C>G Single submitter Sengers syndrome
- c.142-15T>G Single submitter Sengers syndrome
- c.142-1664G>A Single submitter
- c.142-18T>G Single submitter Sengers syndrome
- c.142-235_142-232del Single submitter
- c.142-4T>C Single submitter Sengers syndrome
- c.142-8T>A Single submitter cataract 38
- c.221+13G>A Single submitter Sengers syndrome
- c.221+9G>A Single submitter Sengers syndrome
- c.222-13C>T Single submitter cataract 38
- c.222-20A>G Single submitter cataract 38
- c.222-5A>G Single submitter Sengers syndrome
- c.297+12T>C Single submitter Sengers syndrome
- c.298-106G>A Single submitter
- c.298-18G>A Single submitter Sengers syndrome
- c.298-18G>C Single submitter Sengers syndrome
- c.298-18G>T Single submitter Sengers syndrome
- c.391-13A>G Single submitter cataract 38
- c.391-6T>C Single submitter cataract 38
- c.423+182G>A Single submitter
- c.423+19T>C Single submitter Sengers syndrome
- c.424-14C>T Single submitter Sengers syndrome
- c.424-4C>T Single submitter Sengers syndrome
- c.424-5C>A Single submitter Sengers syndrome
- c.424-6C>T Single submitter cataract 38
- c.424-8C>G Single submitter Sengers syndrome
- c.424-9C>T Single submitter Sengers syndrome
- c.518+12A>G Single submitter Sengers syndrome
- c.518+35G>T Single submitter
- c.519-19A>G Single submitter Sengers syndrome
- c.519-97TG[6] Single submitter
- c.588+2394C>T Single submitter
- c.588+307del Single submitter
- c.588+7C>G Single submitter Sengers syndrome
- c.589-18A>G Single submitter
- c.668+14A>G Single submitter Sengers syndrome
- c.668+9T>C Single submitter cataract 38
- c.669-16C>A Single submitter Sengers syndrome
- c.726+18T>G Single submitter Sengers syndrome
- c.726+9G>T Single submitter Sengers syndrome
- c.727-17T>C Single submitter cataract 38
- c.727-6T>C Single submitter cataract 38
- c.877+13G>A Single submitter Sengers syndrome
- c.877+19A>G Single submitter cataract 38
- c.877+20A>C Single submitter cataract 38
- c.878-15A>T Single submitter Sengers syndrome
- c.878-17C>T Single submitter Sengers syndrome
- c.878-6C>T Single submitter cataract 38
- c.878-9T>G Single submitter Sengers syndrome
- c.975+9G>T Single submitter Sengers syndrome
- c.976-14_976-12del Single submitter Sengers syndrome
- c.976-167A>G Single submitter
- c.976-224dup Single submitter
- c.976-250T>C Single submitter
- c.-33G>A Single submitter
- c.-36dup Single submitter
- c.*1467T>C Single submitter Sengers syndrome
- c.*58G>A Single submitter cataract 38
- c.*992G>A Single submitter cataract 38
- p.Ala142= Single submitter
- p.Ala284Val Single submitter
- p.Ala392= Single submitter Sengers syndrome
- p.Ala58= Single submitter Sengers syndrome
- p.Arg137= Single submitter Sengers syndrome
- p.Arg318= Single submitter Sengers syndrome
- p.Arg351Pro Single submitter ⚠
- p.Asn355= Single submitter cataract 38
- p.Asp191= Single submitter Sengers syndrome
- p.Asp386= Single submitter Sengers syndrome
- p.Glu388= Single submitter Sengers syndrome
- p.Glu81= Single submitter cataract 38
- p.Gly218= Single submitter cataract 38
- p.Gly380= Single submitter cataract 38
- p.His89= Single submitter Sengers syndrome
- p.Ile119= Single submitter Sengers syndrome
- p.Ile232Thr Single submitter Inborn genetic diseases
- p.Ile340= Single submitter Sengers syndrome
- p.Leu154= Single submitter Sengers syndrome
- p.Leu164= Single submitter Sengers syndrome
- p.Leu193= Single submitter Sengers syndrome
- p.Leu21= Single submitter Sengers syndrome
- p.Leu275= Single submitter Sengers syndrome
- p.Leu308= Single submitter cataract 38
- p.Leu374= Single submitter Sengers syndrome
- p.Leu399= Single submitter cataract 38
- p.Leu79= Single submitter Sengers syndrome
- p.Leu90= Single submitter Sengers syndrome
- p.Lys352= Single submitter Sengers syndrome
- p.Lys398= Single submitter Sengers syndrome
- p.Lys412= Single submitter Sengers syndrome
- p.Phe165= Single submitter Sengers syndrome
- p.Pro273= Single submitter Sengers syndrome
- p.Pro300= Single submitter Sengers syndrome
- p.Pro324= Single submitter Sengers syndrome
- p.Pro356= Single submitter cataract 38
- p.Pro420= Single submitter Sengers syndrome
- p.Pro86= Single submitter
- p.Ser239= Single submitter Sengers syndrome
- p.Ter423= Single submitter Sengers syndrome
- p.Thr116= Single submitter
- p.Thr143= Single submitter cataract 38
- p.Thr16= Single submitter Sengers syndrome
- p.Thr163= Single submitter Sengers syndrome
- p.Thr207= Single submitter Sengers syndrome
- p.Thr363= Single submitter Sengers syndrome
- p.Thr421= Single submitter Sengers syndrome
- p.Val118= Single submitter Sengers syndrome
- p.Val132= Single submitter cataract 38
- c.-9C>G No assertion criteria AGK-related disorder
- p.Asp323= No assertion criteria AGK-related disorder
- p.Gln370= No assertion criteria AGK-related disorder
Uncertain significance 146
- c.297+3A>G Multiple submitters cataract 38
- c.424-6C>G Multiple submitters Sengers syndrome
- c.*933C>T Multiple submitters cataract 38
- p.Ala42Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala71Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg137Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg351Gln Multiple submitters Sengers syndrome ⚠
- p.Arg9Pro Multiple submitters Inborn genetic diseases ⚠
- p.Asn115His Multiple submitters Inborn genetic diseases ⚠
- p.Asn36Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asn68Ser Multiple submitters Inborn genetic diseases ⚠
- p.Glu111Gln Multiple submitters Sengers syndrome ⚠
- p.Glu259Gly Multiple submitters Sengers syndrome ⚠
- p.Gly208Ser Multiple submitters Inborn genetic diseases ⚠
- p.His248Pro Multiple submitters Sengers syndrome ⚠
- p.His248Tyr Multiple submitters Sengers syndrome ⚠
- p.Ile120Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile149Val Multiple submitters cataract 38 ⚠
- p.Ile335Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile348Val Multiple submitters cataract 38 ⚠
- p.Leu294Pro Multiple submitters Sengers syndrome ⚠
- p.Leu404Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys171Glu Multiple submitters Sengers syndrome ⚠
- p.Phe204Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro269Thr Multiple submitters Sengers syndrome ⚠
- p.Pro300Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro376Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro86Leu Multiple submitters cataract 38 ⚠
- p.Ser350Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr127Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr255Met Multiple submitters Sengers syndrome ⚠
- p.Thr347_Ile348del Multiple submitters cataract 38
- p.Thr372Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr64Ala Multiple submitters Sengers syndrome ⚠
- p.Thr7Met Multiple submitters Inborn genetic diseases ⚠
- p.Tyr224Cys Multiple submitters Sengers syndrome ⚠
- p.Val219Ile Multiple submitters Sengers syndrome ⚠
- c.1132-10_1132-9del Single submitter Sengers syndrome
- c.222-3C>G Single submitter cataract 38
- c.391-9C>G Single submitter Sengers syndrome
- c.424-3C>A Single submitter Sengers syndrome
- c.424-3C>T Single submitter Sengers syndrome
- c.519-21_519-20delinsCA Single submitter cataract 38
- c.-36G>A Single submitter Sengers syndrome
- c.*1006T>C Single submitter cataract 38
- c.*1067T>G Single submitter cataract 38
- c.*1126T>A Single submitter cataract 38
- c.*1127C>A Single submitter cataract 38
- c.*1237G>A Single submitter cataract 38
- c.*125C>T Single submitter cataract 38
- c.*1301C>T Single submitter cataract 38
- c.*1319G>A Single submitter cataract 38
- c.*197C>T Single submitter cataract 38
- c.*231C>T Single submitter cataract 38
- c.*241A>G Single submitter cataract 38
- c.*265G>A Single submitter cataract 38
- c.*364C>G Single submitter cataract 38
- c.*365G>A Single submitter cataract 38
- c.*621T>C Single submitter cataract 38
- c.*662A>G Single submitter cataract 38
- c.*754G>A Single submitter cataract 38
- c.*758T>C Single submitter cataract 38
- c.*967T>C Single submitter cataract 38
- c.*97G>T Single submitter Sengers syndrome
- p.Ala181Asp Single submitter Sengers syndrome ⚠
- p.Ala205= Single submitter Sengers syndrome
- p.Ala217Gly Single submitter Inborn genetic diseases ⚠
- p.Ala234Val Single submitter ⚠
- p.Ala379Val Single submitter ⚠
- p.Ala392Val Single submitter Sengers syndrome ⚠
- p.Ala58Val Single submitter Sengers syndrome ⚠
- p.Arg138Gln Single submitter Inborn genetic diseases ⚠
- p.Arg282Gly Single submitter Inborn genetic diseases ⚠
- p.Arg318Gln Single submitter ⚠
- p.Arg9= Single submitter
- p.Arg9Gly Single submitter Inborn genetic diseases ⚠
- p.Asp125His Single submitter ⚠
- p.Asp140Glu Single submitter Sengers syndrome ⚠
- p.Asp292Asn Single submitter cataract 38 ⚠
- p.Gln249His Single submitter ⚠
- p.Glu111Lys Single submitter Sengers syndrome ⚠
- p.Glu114Gly Single submitter Inborn genetic diseases ⚠
- p.Glu167Lys Single submitter cataract 38 ⚠
- p.Glu186Gly Single submitter Inborn genetic diseases ⚠
- p.Glu301Gly Single submitter Inborn genetic diseases ⚠
- p.Glu301Lys Single submitter Sengers syndrome ⚠
- p.Glu328Asp Single submitter Inborn genetic diseases ⚠
- p.Glu81Lys Single submitter cataract 38 ⚠
- p.Gly134Asp Single submitter Sengers syndrome ⚠
- p.Gly185Arg Single submitter Inborn genetic diseases ⚠
- p.Gly197Asp Single submitter Sengers syndrome ⚠
- p.Gly31Arg Single submitter Inborn genetic diseases ⚠
- p.Gly349Arg Single submitter cataract 38 ⚠
- p.Gly378Glu Single submitter cataract 38 ⚠
- p.Gly50Val Single submitter ⚠
- p.His11Gln Single submitter ⚠
- p.His174Arg Single submitter Inborn genetic diseases ⚠
- p.His27Arg Single submitter Sengers syndrome ⚠
- p.His27Pro Single submitter Sengers syndrome ⚠
- p.Ile119Val Single submitter cataract 38 ⚠
- p.Ile149Thr Single submitter cataract 38 ⚠
- p.Ile182Leu Single submitter Sengers syndrome ⚠
- p.Ile182Thr Single submitter Inborn genetic diseases ⚠
- p.Ile252Val Single submitter Inborn genetic diseases ⚠
- p.Ile311Thr Single submitter Inborn genetic diseases ⚠
- p.Ile340Met Single submitter Inborn genetic diseases ⚠
- p.Ile385Thr Single submitter Sengers syndrome ⚠
- p.Ile97Val Single submitter Sengers syndrome ⚠
- p.Leu154Pro Single submitter ⚠
- p.Leu22= Single submitter
- p.Leu358Met Single submitter Inborn genetic diseases ⚠
- p.Lys403Asn Single submitter Inborn genetic diseases ⚠
- p.Lys73Glu Single submitter cataract 38 ⚠
- p.Lys75Glu Single submitter AGK-related disorder ⚠
- p.Lys82Glu Single submitter Inborn genetic diseases ⚠
- p.Met113Ile Single submitter ⚠
- p.Met93Val Single submitter Inborn genetic diseases ⚠
- p.Phe237Cys Single submitter Inborn genetic diseases ⚠
- p.Phe237Leu Single submitter Inborn genetic diseases ⚠
- p.Phe49Val Single submitter Sengers syndrome ⚠
- p.Phe4Cys Single submitter ⚠
- p.Pro262Leu Single submitter Sengers syndrome ⚠
- p.Pro269Ser Single submitter ⚠
- p.Pro86Arg Single submitter Sengers syndrome ⚠
- p.Ser158Gly Single submitter cataract 38 ⚠
- p.Ser213Pro Single submitter cataract 38 ⚠
- p.Ser213Thr Single submitter Inborn genetic diseases ⚠
- p.Ser285Cys Single submitter Inborn genetic diseases ⚠
- p.Ser299Thr Single submitter ⚠
- p.Ser350Gly Single submitter ⚠
- p.Ter423Trp Single submitter Sengers syndrome
- p.Thr116Met Single submitter Inborn genetic diseases ⚠
- p.Thr157Ala Single submitter Inborn genetic diseases ⚠
- p.Thr163Ala Single submitter Inborn genetic diseases ⚠
- p.Thr16Ile Single submitter ⚠
- p.Thr255Ala Single submitter cataract 38 ⚠
- p.Thr78Ser Single submitter Inborn genetic diseases ⚠
- p.Thr96Ile Single submitter cataract 38 ⚠
- p.Tyr224His Single submitter Sengers syndrome ⚠
- p.Val118Met Single submitter cataract 38 ⚠
- p.Val121Leu Single submitter Inborn genetic diseases ⚠
- p.Val188Ile Single submitter cataract 38 ⚠
- p.Val270Ile Single submitter Inborn genetic diseases ⚠
- p.Val360Gly Single submitter cataract 38 ⚠
- p.Val360Met Single submitter Sengers syndrome ⚠
- p.Val397Met Single submitter Inborn genetic diseases ⚠