AMT — 720 ClinVar variants

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

52 Pathogenic · 27 Pathogenic/Likely pathogenic · 56 Likely pathogenic · 36 Conflicting · 11 Benign · 4 Benign/Likely benign · 308 Likely benign · 226 Uncertain significance

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

⚑ Evidence disagreements 207

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

Predictors agree, ClinVar conflicts 15

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

AMT p.Arg222His Conflicting Single submitter
glycine encephalopathy
AMT p.Arg315Lys Conflicting Single submitter
Inborn genetic diseases
AMT p.Arg382Gln Conflicting Single submitter
glycine encephalopathy
AMT p.Arg73Cys Conflicting Single submitter
glycine encephalopathy 2
AMT p.Asn275Lys Conflicting Single submitter
glycine encephalopathy
AMT p.Asp276Asn Conflicting Single submitter
glycine encephalopathy
AMT p.Gly104Glu Conflicting Single submitter
glycine encephalopathy
AMT p.Gly269Asp Conflicting Single submitter
glycine encephalopathy 2
AMT p.Gly47Arg Conflicting Single submitter
glycine encephalopathy 2
AMT p.His83Arg Conflicting Single submitter
glycine encephalopathy
AMT p.Leu172Pro Conflicting Single submitter
glycine encephalopathy 1
AMT p.Leu266Pro Conflicting Single submitter
glycine encephalopathy
AMT p.Thr282Ile Conflicting Single submitter
glycine encephalopathy
AMT p.Val50Leu Conflicting Single submitter
glycine encephalopathy
AMT p.Val95Met Conflicting Single submitter
glycine encephalopathy

Predictors lean, ClinVar uncertain 88

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

AMT p.Ala146Thr Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Ala240Glu Uncertain significance Multiple submitters
glycine encephalopathy 2
AMT p.Ala361Val Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Arg10Gly Uncertain significance Multiple submitters
Inborn genetic diseases
AMT p.Arg320Leu Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Arg73His Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Asn134Ser Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Asp176Asn Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Cys148Phe Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Gln317Arg Uncertain significance Multiple submitters
Inborn genetic diseases
AMT p.Gly293Glu Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Ile277Thr Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Leu57Pro Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Met324Ile Uncertain significance Multiple submitters
Inborn genetic diseases
AMT p.Met386Thr Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Phe213Cys Uncertain significance Multiple submitters
Inborn genetic diseases
AMT p.Pro366Leu Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Pro58Leu Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Ser144Phe Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Thr120Ile Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Val5Leu Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Val5Leu Uncertain significance Multiple submitters
Inborn genetic diseases
AMT p.Ala188Thr Uncertain significance Single submitter
glycine encephalopathy
AMT p.Ala193Gly Uncertain significance Single submitter
glycine encephalopathy
AMT p.Ala21Gly Uncertain significance Single submitter
Inborn genetic diseases
AMT p.Ala21Val Uncertain significance Single submitter
glycine encephalopathy
AMT p.Ala361Thr Uncertain significance Single submitter
glycine encephalopathy 2
AMT p.Ala53Val Uncertain significance Single submitter
glycine encephalopathy
AMT p.Arg110Thr Uncertain significance Single submitter
Inborn genetic diseases
AMT p.Arg35Lys Uncertain significance Single submitter
glycine encephalopathy
AMT p.Arg62Gln Uncertain significance Single submitter
glycine encephalopathy
AMT p.Arg73Ser Uncertain significance Single submitter
AMT p.Asn145Ser Uncertain significance Single submitter
glycine encephalopathy
AMT p.Asn165Thr Uncertain significance Single submitter
Inborn genetic diseases
AMT p.Asn177Asp Uncertain significance Single submitter
glycine encephalopathy
AMT p.Asn359Thr Uncertain significance Single submitter
glycine encephalopathy
AMT p.Asp63Glu Uncertain significance Single submitter
glycine encephalopathy
AMT p.Asp63Gly Uncertain significance Single submitter
glycine encephalopathy
AMT p.Cys23Arg Uncertain significance Single submitter
glycine encephalopathy
AMT p.Cys367Gly Uncertain significance Single submitter
Inborn genetic diseases
AMT p.Gln385His Uncertain significance Single submitter
glycine encephalopathy
AMT p.Gly114Glu Uncertain significance Single submitter
glycine encephalopathy
AMT p.Gly124Glu Uncertain significance Single submitter
glycine encephalopathy
AMT p.Gly269Ser Uncertain significance Single submitter
glycine encephalopathy
AMT p.Gly274Glu Uncertain significance Single submitter
Inborn genetic diseases
AMT p.Gly286Asp Uncertain significance Single submitter
glycine encephalopathy
AMT p.Gly286Ser Uncertain significance Single submitter
glycine encephalopathy
AMT p.Gly304Glu Uncertain significance Single submitter
glycine encephalopathy
AMT p.Ile277Asn Uncertain significance Single submitter
glycine encephalopathy
AMT p.Ile308Thr Uncertain significance Single submitter
glycine encephalopathy
AMT p.Ile89Arg Uncertain significance Single submitter
AMT p.Leu243Met Uncertain significance Single submitter
glycine encephalopathy
AMT p.Lys159Arg Uncertain significance Single submitter
glycine encephalopathy
AMT p.Met156Thr Uncertain significance Single submitter
glycine encephalopathy
AMT p.Met205Arg Uncertain significance Single submitter
glycine encephalopathy
AMT p.Met205Val Uncertain significance Single submitter
glycine encephalopathy
AMT p.Met375Thr Uncertain significance Single submitter
glycine encephalopathy
AMT p.Met84Lys Uncertain significance Single submitter
glycine encephalopathy
AMT p.Met84Val Uncertain significance Single submitter
glycine encephalopathy 2
AMT p.Phe18Leu Uncertain significance Single submitter
glycine encephalopathy
AMT p.Phe394Ser Uncertain significance Single submitter
glycine encephalopathy
AMT p.Phe52Cys Uncertain significance Single submitter
glycine encephalopathy
AMT p.Phe52Ser Uncertain significance Single submitter
glycine encephalopathy
AMT p.Phe79Ile Uncertain significance Single submitter
glycine encephalopathy
AMT p.Pro25Ser Uncertain significance Single submitter
glycine encephalopathy
AMT p.Pro354Ser Uncertain significance Single submitter
Inborn genetic diseases
AMT p.Ser64Arg Uncertain significance Single submitter
AMT p.Thr226Ile Uncertain significance Single submitter
glycine encephalopathy
AMT p.Thr66Ala Uncertain significance Single submitter
glycine encephalopathy
AMT p.Val142Gly Uncertain significance Single submitter
glycine encephalopathy
AMT p.Val143Leu Uncertain significance Single submitter
Inborn genetic diseases
AMT p.Val209Met Uncertain significance Single submitter
glycine encephalopathy
AMT p.Val284Leu Uncertain significance Single submitter
AMT p.Val321Leu Uncertain significance Single submitter
glycine encephalopathy
AMT p.Val32Ala Uncertain significance Single submitter
glycine encephalopathy
AMT p.Val347Ala Uncertain significance Single submitter
glycine encephalopathy
AMT p.Val347Leu Uncertain significance Single submitter
glycine encephalopathy
AMT p.Val365Ala Uncertain significance Single submitter
Inborn genetic diseases
AMT p.Val81Ala Uncertain significance Single submitter
glycine encephalopathy
AMT p.Val81Met Uncertain significance Single submitter
glycine encephalopathy
AMT p.Ala21Thr Uncertain significance No assertion criteria
glycine encephalopathy
AMT p.Ala9Ser Uncertain significance No assertion criteria
glycine encephalopathy
AMT p.Arg381Leu Uncertain significance No assertion criteria
glycine encephalopathy
AMT p.Cys367Arg Uncertain significance No assertion criteria
glycine encephalopathy
AMT p.Cys76Trp Uncertain significance No assertion criteria
glycine encephalopathy
AMT p.His71Gln Uncertain significance No assertion criteria
glycine encephalopathy
AMT p.Met386Val Uncertain significance No assertion criteria
glycine encephalopathy
AMT p.Val32Met Uncertain significance No assertion criteria
glycine encephalopathy

Predictors split 104

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

AMT p.Ala238Val Likely benign Multiple submitters
glycine encephalopathy
AMT p.Arg10His Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Arg14His Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Arg168Thr Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Arg219Cys Uncertain significance Multiple submitters
Inborn genetic diseases
AMT p.Arg297Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AMT p.Arg318Trp Uncertain significance Multiple submitters
Inborn genetic diseases
AMT p.Arg34Cys Uncertain significance Multiple submitters
Inborn genetic diseases
AMT p.Arg371Cys Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Arg381Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AMT p.Arg62Trp Uncertain significance Multiple submitters
Inborn genetic diseases
AMT p.Glu122Lys Uncertain significance Multiple submitters
Inborn genetic diseases
AMT p.Glu211Lys Benign/Likely benign Multiple submitters
glycine encephalopathy
AMT p.Glu379Ala Uncertain significance Multiple submitters
Inborn genetic diseases
AMT p.Gly341Ser Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Gly46Ser Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.His65Arg Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Ile106Thr Pathogenic Multiple submitters
glycine encephalopathy
AMT p.Leu26His Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Pro20Leu Uncertain significance Multiple submitters
Inborn genetic diseases
AMT p.Pro251Arg Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Ser100Gly Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Ser68Leu Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Thr120Ser Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Thr135Ala Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Thr401Asn Uncertain significance Multiple submitters
Inborn genetic diseases
AMT p.Tyr400Ser Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Val220Met Uncertain significance Multiple submitters
glycine encephalopathy
AMT p.Ala107Val Uncertain significance Single submitter
Inborn genetic diseases
AMT p.Ala178Val Uncertain significance Single submitter
glycine encephalopathy
AMT p.Ala240Val Uncertain significance Single submitter
glycine encephalopathy
AMT p.Ala298Thr Uncertain significance Single submitter
glycine encephalopathy
AMT p.Ala29Val Uncertain significance Single submitter
glycine encephalopathy
AMT p.Ala328Thr Uncertain significance Single submitter
glycine encephalopathy
AMT p.Ala44Thr Uncertain significance Single submitter
glycine encephalopathy
AMT p.Ala4Pro Uncertain significance Single submitter
glycine encephalopathy
AMT p.Ala51Val Conflicting Single submitter
glycine encephalopathy
AMT p.Arg10Pro Uncertain significance Single submitter
glycine encephalopathy
AMT p.Arg14Cys Uncertain significance Single submitter
glycine encephalopathy
AMT p.Arg219His Uncertain significance Single submitter
glycine encephalopathy
AMT p.Arg24Cys Uncertain significance Single submitter
glycine encephalopathy
AMT p.Arg24Gly Uncertain significance Single submitter
glycine encephalopathy
AMT p.Arg295Cys Uncertain significance Single submitter
glycine encephalopathy
AMT p.Arg318Gln Uncertain significance Single submitter
glycine encephalopathy
AMT p.Arg34His Conflicting Single submitter
glycine encephalopathy
AMT p.Arg371His Conflicting Single submitter
glycine encephalopathy
AMT p.Arg381Trp Uncertain significance Single submitter
glycine encephalopathy
AMT p.Arg3Trp Uncertain significance Single submitter
Inborn genetic diseases
AMT p.Arg94Gln Conflicting Single submitter
glycine encephalopathy 2
AMT p.Asn112Ser Uncertain significance Single submitter
glycine encephalopathy
AMT p.Asn121Ser Uncertain significance Single submitter
glycine encephalopathy 1
AMT p.Asp197Asn Uncertain significance Single submitter
Inborn genetic diseases
AMT p.Asp197His Conflicting Single submitter
glycine encephalopathy
AMT p.Gln113Arg Uncertain significance Single submitter
Inborn genetic diseases
AMT p.Gln189Pro Uncertain significance Single submitter
glycine encephalopathy
AMT p.Glu108Lys Uncertain significance Single submitter
Inborn genetic diseases
AMT p.Glu150Lys Uncertain significance Single submitter
glycine encephalopathy
AMT p.Glu252Lys Uncertain significance Single submitter
glycine encephalopathy
AMT p.Glu368Lys Uncertain significance Single submitter
Inborn genetic diseases
AMT p.Gly125Ser Uncertain significance Single submitter
glycine encephalopathy
AMT p.Gly12Asp Uncertain significance Single submitter
glycine encephalopathy
AMT p.Gly171Asp Uncertain significance Single submitter
glycine encephalopathy
AMT p.Gly194Ser Uncertain significance Single submitter
glycine encephalopathy
AMT p.Gly214Ala Uncertain significance Single submitter
Inborn genetic diseases
AMT p.Gly217Ser Uncertain significance Single submitter
Inborn genetic diseases
AMT p.Gly363Ser Likely pathogenic Single submitter
glycine encephalopathy
AMT p.Gly47Ala Uncertain significance Single submitter
AMT p.His139Asp Uncertain significance Single submitter
glycine encephalopathy
AMT p.Ile344Phe Uncertain significance Single submitter
glycine encephalopathy
AMT p.Leu155Phe Conflicting Single submitter
glycine encephalopathy
AMT p.Leu402Phe Uncertain significance Single submitter
glycine encephalopathy
AMT p.Lys358Thr Uncertain significance Single submitter
glycine encephalopathy
AMT p.Lys88Thr Uncertain significance Single submitter
Inborn genetic diseases
AMT p.Pro310Ser Uncertain significance Single submitter
glycine encephalopathy
AMT p.Pro37Leu Uncertain significance Single submitter
glycine encephalopathy
AMT p.Pro396Leu Uncertain significance Single submitter
glycine encephalopathy
AMT p.Ser334Ile Uncertain significance Single submitter
glycine encephalopathy
AMT p.Ser353Cys Uncertain significance Single submitter
Inborn genetic diseases
AMT p.Ser370Gly Uncertain significance Single submitter
glycine encephalopathy
AMT p.Thr115Ile Uncertain significance Single submitter
Inborn genetic diseases
AMT p.Thr281Ala Uncertain significance Single submitter
glycine encephalopathy
AMT p.Tyr369Cys Uncertain significance Single submitter
AMT p.Tyr39Cys Uncertain significance Single submitter
glycine encephalopathy
AMT p.Tyr400Cys Uncertain significance Single submitter
glycine encephalopathy
AMT p.Tyr400His Uncertain significance Single submitter
glycine encephalopathy
AMT p.Val195Ala Uncertain significance Single submitter
glycine encephalopathy
AMT p.Val195Met Conflicting Single submitter
Inborn genetic diseases
AMT p.Val212Ala Conflicting Single submitter
Inborn genetic diseases
AMT p.Val215Leu Uncertain significance Single submitter
glycine encephalopathy
AMT p.Val215Met Uncertain significance Single submitter
glycine encephalopathy
AMT p.Val241Ile Uncertain significance Single submitter
glycine encephalopathy
AMT p.Val284Met Uncertain significance Single submitter
glycine encephalopathy
AMT p.Val316Leu Uncertain significance Single submitter
glycine encephalopathy
AMT p.Val321Ala Uncertain significance Single submitter
glycine encephalopathy
AMT p.Val321Met Conflicting Single submitter
glycine encephalopathy
AMT p.Val380Met Uncertain significance Single submitter
glycine encephalopathy
AMT p.Val388Ile Uncertain significance Single submitter
glycine encephalopathy
AMT p.Val59Met Uncertain significance Single submitter
glycine encephalopathy
AMT p.Val5Ile Uncertain significance Single submitter
glycine encephalopathy
AMT p.Val8Met Uncertain significance Single submitter
glycine encephalopathy
AMT p.Asp198Val Uncertain significance No assertion criteria
AMT p.Leu70Met Uncertain significance No assertion criteria
glycine encephalopathy
AMT p.Pro111Gln Uncertain significance No assertion criteria
glycine encephalopathy
AMT p.Val309Phe Uncertain significance No assertion criteria
glycine encephalopathy

All AMT variants

Pathogenic 52

c.471+2T>C Multiple submitters glycine encephalopathy 2
c.878-1G>A Multiple submitters glycine encephalopathy 1
p.Ala21fs Multiple submitters glycine encephalopathy
p.Arg222Cys Multiple submitters glycine encephalopathy 1
p.Arg320His Multiple submitters glycine encephalopathy 1
p.Asp276His Multiple submitters glycine encephalopathy
p.Gln166Ter Multiple submitters glycine encephalopathy
p.Ile106Thr Multiple submitters glycine encephalopathy ⚠
p.Met1Thr Multiple submitters glycine encephalopathy
p.Pro303fs Multiple submitters glycine encephalopathy
p.Ser117Leu Multiple submitters glycine encephalopathy
p.Tyr369_Ser370delinsTer Multiple submitters glycine encephalopathy
c.1033+1G>A Single submitter glycine encephalopathy
c.1033+2T>C Single submitter glycine encephalopathy
c.259-1G>C Single submitter glycine encephalopathy
c.259-2A>C Single submitter glycine encephalopathy
c.340-552del Single submitter glycine encephalopathy
p.Ala44fs Single submitter
p.Ala4fs Single submitter glycine encephalopathy
p.Cys223Ter Single submitter glycine encephalopathy
p.Cys367Ter Single submitter glycine encephalopathy
p.Gln189Ter Single submitter glycine encephalopathy
p.Gln311Ter Single submitter glycine encephalopathy
p.Gln385Ter Single submitter glycine encephalopathy 1
p.Gln60Ter Single submitter glycine encephalopathy
p.Gln74fs Single submitter glycine encephalopathy
p.Gln86Ter Single submitter glycine encephalopathy
p.Glu252_Val253insTer Single submitter glycine encephalopathy
p.Glu368Ter Single submitter glycine encephalopathy
p.Gly239fs Single submitter glycine encephalopathy
p.Gly322fs Single submitter glycine encephalopathy
p.His333fs Single submitter glycine encephalopathy
p.Leu258fs Single submitter glycine encephalopathy
p.Leu78_Phe79insTer Single submitter glycine encephalopathy
p.Lys48fs Single submitter glycine encephalopathy
p.Met1Lys Single submitter glycine encephalopathy
p.Phe204fs Single submitter glycine encephalopathy
p.Pro20fs Single submitter glycine encephalopathy
p.Pro25fs Single submitter glycine encephalopathy
p.Pro283Ser Single submitter glycine encephalopathy
p.Ser216fs Single submitter glycine encephalopathy
p.Thr245fs Single submitter glycine encephalopathy
p.Thr348fs Single submitter glycine encephalopathy
p.Thr87fs Single submitter glycine encephalopathy
p.Trp290Ter Single submitter glycine encephalopathy
p.Trp55Ter Single submitter glycine encephalopathy
p.Tyr225_Gly227del Single submitter glycine encephalopathy
p.Tyr273fs Single submitter glycine encephalopathy
p.Tyr273Ter Single submitter glycine encephalopathy
p.Val160fs Single submitter glycine encephalopathy
p.Val360fs Single submitter glycine encephalopathy
p.Val7fs Single submitter glycine encephalopathy

Pathogenic/Likely pathogenic 27

c.259-2A>T Multiple submitters glycine encephalopathy
c.-58C>T Multiple submitters glycine encephalopathy
p.Ala328fs Multiple submitters glycine encephalopathy
p.Arg265Cys Multiple submitters glycine encephalopathy 1
p.Arg265His Multiple submitters glycine encephalopathy 2
p.Arg296Cys Multiple submitters glycine encephalopathy 1
p.Arg296His Multiple submitters glycine encephalopathy
p.Arg331Gln Multiple submitters glycine encephalopathy
p.Arg94Trp Multiple submitters glycine encephalopathy 2
p.Gln16Ter Multiple submitters glycine encephalopathy
p.Gln192Ter Multiple submitters glycine encephalopathy 1
p.Gly363Arg Multiple submitters glycine encephalopathy
p.Gly54_Trp55insTer Multiple submitters glycine encephalopathy 1
p.His42Arg Multiple submitters glycine encephalopathy 1
p.His71Pro Multiple submitters glycine encephalopathy 1
p.His75fs Multiple submitters glycine encephalopathy 2
p.Ile89fs Multiple submitters glycine encephalopathy 1
p.Leu179fs Multiple submitters glycine encephalopathy
p.Leu57fs Multiple submitters glycine encephalopathy
p.Lys151_Leu155del Multiple submitters glycine encephalopathy 2
p.Lys201fs Multiple submitters glycine encephalopathy
p.Met330fs Multiple submitters glycine encephalopathy
p.Met84fs Multiple submitters glycine encephalopathy 2
p.Ser353fs Multiple submitters glycine encephalopathy
p.Ser6fs Multiple submitters glycine encephalopathy
p.Ser77Leu Multiple submitters glycine encephalopathy 1
p.Val220fs Multiple submitters glycine encephalopathy

Likely pathogenic 56

c.1034-1dup Multiple submitters glycine encephalopathy
c.339+2T>C Multiple submitters glycine encephalopathy 2
c.471+2_471+7del Multiple submitters glycine encephalopathy
c.695_696+21del Multiple submitters Inborn genetic diseases
c.697-1G>A Multiple submitters glycine encephalopathy
c.91-2A>G Multiple submitters glycine encephalopathy
p.Arg320Gly Multiple submitters glycine encephalopathy
p.Asn145Ile Multiple submitters glycine encephalopathy 2
p.Glu232= Multiple submitters glycine encephalopathy 2
c.258+1G>A Single submitter glycine encephalopathy
c.339+1G>A Single submitter glycine encephalopathy
c.472-2A>T Single submitter glycine encephalopathy 2
c.696+2T>A Single submitter glycine encephalopathy
c.697-2A>C Single submitter glycine encephalopathy
c.697-2A>G Single submitter glycine encephalopathy 2
c.877+5G>A Single submitter glycine encephalopathy
c.878-2A>G Single submitter Inborn genetic diseases
c.90+1G>T Single submitter glycine encephalopathy
c.91-1G>A Single submitter glycine encephalopathy
c.91-1G>T Single submitter glycine encephalopathy 1
p.Arg222Leu Single submitter glycine encephalopathy
p.Arg222Ser Single submitter glycine encephalopathy
p.Arg296Gly Single submitter glycine encephalopathy
p.Arg296Leu Single submitter glycine encephalopathy
p.Arg331Trp Single submitter glycine encephalopathy
p.Arg73fs Single submitter glycine encephalopathy
p.Arg73Gly Single submitter glycine encephalopathy
p.Asp128fs Single submitter glycine encephalopathy
p.Asp229His Single submitter glycine encephalopathy
p.Gln164Ter Single submitter glycine encephalopathy 2
p.Glu150fs Single submitter glycine encephalopathy
p.Glu228fs Single submitter glycine encephalopathy 2
p.Glu326delinsGlyValAspValTer Single submitter glycine encephalopathy
p.Gly363Ser Single submitter glycine encephalopathy ⚠
p.His83Pro Single submitter glycine encephalopathy
p.Leu356fs Single submitter glycine encephalopathy
p.Leu38_Tyr39insTer Single submitter glycine encephalopathy
p.Lys96Ter Single submitter glycine encephalopathy
p.Met1Ile Single submitter glycine encephalopathy 2
p.Met210fs Single submitter glycine encephalopathy 2
p.Met300fs Single submitter glycine encephalopathy
p.Met362fs Single submitter glycine encephalopathy
p.Met98Arg Single submitter glycine encephalopathy
p.Ser353Tyr Single submitter glycine encephalopathy
p.Ser355fs Single submitter glycine encephalopathy
p.Ser77Ter Single submitter glycine encephalopathy
p.Tyr141fs Single submitter glycine encephalopathy
p.Tyr141Ter Single submitter glycine encephalopathy
p.Tyr225Cys Single submitter glycine encephalopathy
c.696+1G>A No assertion criteria glycine encephalopathy 1
p.Gly47Trp No assertion criteria glycine encephalopathy
p.Leu22fs No assertion criteria glycine encephalopathy
p.Leu292fs No assertion criteria glycine encephalopathy 1
p.Ser117fs No assertion criteria glycine encephalopathy 1
p.Val284fs No assertion criteria glycine encephalopathy 1
p.Val50fs No assertion criteria glycine encephalopathy

Conflicting classifications of pathogenicity 36

c.1033+1G>C Single submitter glycine encephalopathy
c.91-9C>T Single submitter glycine encephalopathy
c.-55C>T Single submitter glycine encephalopathy 1
p.Ala51Val Single submitter glycine encephalopathy ⚠
p.Arg222His Single submitter glycine encephalopathy ⚠
p.Arg297Ter Single submitter glycine encephalopathy
p.Arg315Lys Single submitter Inborn genetic diseases ⚠
p.Arg320Cys Single submitter glycine encephalopathy
p.Arg34His Single submitter glycine encephalopathy ⚠
p.Arg371His Single submitter glycine encephalopathy ⚠
p.Arg382Gln Single submitter glycine encephalopathy ⚠
p.Arg73Cys Single submitter glycine encephalopathy 2 ⚠
p.Arg94Gln Single submitter glycine encephalopathy 2 ⚠
p.Asn250= Single submitter glycine encephalopathy
p.Asn275Lys Single submitter glycine encephalopathy ⚠
p.Asp197His Single submitter glycine encephalopathy ⚠
p.Asp276Asn Single submitter glycine encephalopathy ⚠
p.Cys28= Single submitter glycine encephalopathy
p.Gly104Glu Single submitter glycine encephalopathy ⚠
p.Gly171= Single submitter glycine encephalopathy
p.Gly269Asp Single submitter glycine encephalopathy 2 ⚠
p.Gly286= Single submitter glycine encephalopathy
p.Gly47Arg Single submitter glycine encephalopathy 2 ⚠
p.His65= Single submitter glycine encephalopathy
p.His83Arg Single submitter glycine encephalopathy ⚠
p.Leu118= Single submitter glycine encephalopathy
p.Leu155Phe Single submitter glycine encephalopathy ⚠
p.Leu172Pro Single submitter glycine encephalopathy 1 ⚠
p.Leu266Pro Single submitter glycine encephalopathy ⚠
p.Lys358del Single submitter glycine encephalopathy 1
p.Thr282Ile Single submitter glycine encephalopathy ⚠
p.Val195Met Single submitter Inborn genetic diseases ⚠
p.Val212Ala Single submitter Inborn genetic diseases ⚠
p.Val321Met Single submitter glycine encephalopathy ⚠
p.Val50Leu Single submitter glycine encephalopathy ⚠
p.Val95Met Single submitter glycine encephalopathy ⚠

Benign 11

c.258+161A>G Multiple submitters
c.259-109T>G Multiple submitters glycine encephalopathy
c.259-247G>C Multiple submitters
c.-1G>A Multiple submitters glycine encephalopathy
c.*696C>T Multiple submitters glycine encephalopathy
p.Arg318= Multiple submitters glycine encephalopathy
c.471+10del Single submitter glycine encephalopathy
c.471+10dup Single submitter glycine encephalopathy
c.471+12_471+13del Single submitter glycine encephalopathy
c.877+293dup Single submitter
c.878-228dup Single submitter

Benign/Likely benign 4

c.-76G>C Multiple submitters glycine encephalopathy
p.Glu211Lys Multiple submitters glycine encephalopathy ⚠
p.Met300Val Multiple submitters glycine encephalopathy
p.Val170= Multiple submitters glycine encephalopathy 2

Likely benign 308

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

c.259-6C>T Multiple submitters glycine encephalopathy
p.Ala238= Multiple submitters glycine encephalopathy
p.Ala238Val Multiple submitters glycine encephalopathy ⚠
p.Arg297= Multiple submitters glycine encephalopathy
p.Asn121= Multiple submitters glycine encephalopathy
p.Asn145= Multiple submitters glycine encephalopathy
p.Gly184= Multiple submitters glycine encephalopathy
p.Gly293= Multiple submitters glycine encephalopathy
p.Leu127= Multiple submitters glycine encephalopathy
p.Pro185= Multiple submitters Inborn genetic diseases
p.Pro310= Multiple submitters glycine encephalopathy
p.Thr36= Multiple submitters glycine encephalopathy
c.1033+10C>T Single submitter glycine encephalopathy
c.1033+13G>C Single submitter glycine encephalopathy
c.1033+17A>G Single submitter glycine encephalopathy
c.1033+18G>A Single submitter glycine encephalopathy
c.1033+18G>C Single submitter glycine encephalopathy
c.1034-11T>G Single submitter glycine encephalopathy
c.1034-14T>C Single submitter glycine encephalopathy
c.1034-16T>C Single submitter glycine encephalopathy
c.1034-19G>A Single submitter glycine encephalopathy
c.1034-30_1034-18dup Single submitter glycine encephalopathy
c.1034-6T>C Single submitter glycine encephalopathy
c.1034-8C>T Single submitter glycine encephalopathy
c.258+10G>A Single submitter glycine encephalopathy
c.258+13A>G Single submitter glycine encephalopathy
c.258+14G>A Single submitter glycine encephalopathy
c.258+17C>T Single submitter glycine encephalopathy
c.258+19C>G Single submitter glycine encephalopathy
c.258+8del Single submitter glycine encephalopathy
c.259-13del Single submitter glycine encephalopathy
c.259-16T>C Single submitter glycine encephalopathy
c.259-20G>A Single submitter glycine encephalopathy
c.259-4C>T Single submitter glycine encephalopathy
c.259-8dup Single submitter glycine encephalopathy
c.259-9C>T Single submitter glycine encephalopathy
c.339+15T>C Single submitter glycine encephalopathy
c.339+17C>T Single submitter glycine encephalopathy
c.339+18T>G Single submitter glycine encephalopathy
c.339+8C>A Single submitter glycine encephalopathy
c.340-10T>C Single submitter glycine encephalopathy
c.340-12C>T Single submitter glycine encephalopathy
c.340-13A>T Single submitter glycine encephalopathy
c.340-17C>T Single submitter glycine encephalopathy
c.340-18G>A Single submitter glycine encephalopathy
c.340-19C>T Single submitter glycine encephalopathy
c.340-9del Single submitter glycine encephalopathy
c.340-9T>C Single submitter glycine encephalopathy
c.471+10C>G Single submitter glycine encephalopathy
c.471+10C>T Single submitter glycine encephalopathy
c.471+11T>C Single submitter glycine encephalopathy
c.471+14G>A Single submitter glycine encephalopathy
c.471+19C>A Single submitter glycine encephalopathy
c.471+20T>C Single submitter glycine encephalopathy
c.471+7C>G Single submitter glycine encephalopathy
c.471+7C>T Single submitter glycine encephalopathy
c.471+8C>T Single submitter glycine encephalopathy
c.471+9C>A Single submitter glycine encephalopathy
c.471+9C>G Single submitter glycine encephalopathy
c.471+9C>T Single submitter glycine encephalopathy
c.472-10T>C Single submitter glycine encephalopathy
c.472-11C>T Single submitter glycine encephalopathy
c.472-17G>C Single submitter glycine encephalopathy
c.472-19_472-18del Single submitter glycine encephalopathy
c.472-19T>C Single submitter glycine encephalopathy
c.472-6T>C Single submitter glycine encephalopathy
c.472-7C>T Single submitter glycine encephalopathy
c.472-8T>C Single submitter glycine encephalopathy
c.472-9G>A Single submitter glycine encephalopathy
c.550+10_550+15del Single submitter glycine encephalopathy
c.550+10C>G Single submitter glycine encephalopathy
c.550+12G>A Single submitter glycine encephalopathy
c.550+16T>C Single submitter glycine encephalopathy
c.550+17G>A Single submitter glycine encephalopathy
c.550+18G>C Single submitter glycine encephalopathy
c.550+7G>A Single submitter glycine encephalopathy
c.550+9G>A Single submitter glycine encephalopathy
c.550+9G>T Single submitter glycine encephalopathy
c.551-11C>T Single submitter glycine encephalopathy
c.551-15G>A Single submitter glycine encephalopathy
c.551-17T>C Single submitter glycine encephalopathy
c.551-20C>T Single submitter glycine encephalopathy
c.551-4C>T Single submitter glycine encephalopathy
c.551-6G>A Single submitter glycine encephalopathy
c.551-8G>C Single submitter glycine encephalopathy
c.551-9T>C Single submitter glycine encephalopathy
c.696+10G>A Single submitter glycine encephalopathy
c.696+10G>T Single submitter glycine encephalopathy
c.696+15G>A Single submitter glycine encephalopathy
c.696+16_696+18del Single submitter glycine encephalopathy
c.696+19T>C Single submitter glycine encephalopathy
c.696+20G>T Single submitter glycine encephalopathy
c.696+7C>T Single submitter glycine encephalopathy
c.696+9A>G Single submitter glycine encephalopathy
c.696+9A>T Single submitter glycine encephalopathy
c.697-10T>C Single submitter glycine encephalopathy
c.697-11G>A Single submitter glycine encephalopathy
c.697-17T>C Single submitter glycine encephalopathy
c.697-18C>T Single submitter glycine encephalopathy
c.697-19C>T Single submitter glycine encephalopathy
c.697-20C>T Single submitter glycine encephalopathy
c.697-35G>C Single submitter glycine encephalopathy
c.697-7C>T Single submitter glycine encephalopathy
c.697-8T>G Single submitter glycine encephalopathy
c.877+10G>A Single submitter glycine encephalopathy
c.877+16A>C Single submitter glycine encephalopathy
c.877+17C>T Single submitter glycine encephalopathy
c.877+18T>C Single submitter glycine encephalopathy
c.877+7T>G Single submitter glycine encephalopathy
c.877+9G>A Single submitter glycine encephalopathy
c.877+9G>C Single submitter glycine encephalopathy
c.878-11del Single submitter glycine encephalopathy
c.878-12G>A Single submitter glycine encephalopathy
c.878-15T>C Single submitter glycine encephalopathy
c.878-16_878-15del Single submitter glycine encephalopathy
c.878-16A>T Single submitter glycine encephalopathy
c.878-19C>G Single submitter glycine encephalopathy
c.878-19C>T Single submitter glycine encephalopathy
c.878-5T>G Single submitter glycine encephalopathy
c.878-6dup Single submitter glycine encephalopathy
c.878-7del Single submitter glycine encephalopathy
c.878-7T>C Single submitter glycine encephalopathy
c.878-8T>C Single submitter glycine encephalopathy
c.878-9A>G Single submitter glycine encephalopathy
c.90+10A>G Single submitter glycine encephalopathy
c.90+10A>T Single submitter glycine encephalopathy
c.90+12G>A Single submitter glycine encephalopathy
c.90+13G>A Single submitter glycine encephalopathy
c.90+20T>C Single submitter glycine encephalopathy
c.90+9G>C Single submitter glycine encephalopathy
c.91-10C>A Single submitter glycine encephalopathy
c.91-11G>A Single submitter glycine encephalopathy
c.91-14C>T Single submitter glycine encephalopathy
c.91-20C>G Single submitter glycine encephalopathy
c.91-7C>T Single submitter glycine encephalopathy
c.91-8G>A Single submitter glycine encephalopathy
c.*130G>T Single submitter glycine encephalopathy
c.*416C>T Single submitter glycine encephalopathy
p.Ala154= Single submitter glycine encephalopathy
p.Ala178= Single submitter glycine encephalopathy
p.Ala187= Single submitter glycine encephalopathy
p.Ala188= Single submitter glycine encephalopathy
p.Ala193= Single submitter glycine encephalopathy
p.Ala208= Single submitter glycine encephalopathy
p.Ala244= Single submitter glycine encephalopathy
p.Ala246= Single submitter glycine encephalopathy
p.Ala256= Single submitter glycine encephalopathy
p.Ala29= Single submitter glycine encephalopathy
p.Ala299= Single submitter glycine encephalopathy
p.Ala361= Single submitter glycine encephalopathy
p.Ala4= Single submitter glycine encephalopathy
p.Ala44= Single submitter glycine encephalopathy
p.Ala51= Single submitter glycine encephalopathy
p.Ala53= Single submitter glycine encephalopathy
p.Ala9= Single submitter glycine encephalopathy
p.Arg14= Single submitter glycine encephalopathy
p.Arg168= Single submitter glycine encephalopathy
p.Arg219= Single submitter glycine encephalopathy
p.Arg222= Single submitter glycine encephalopathy
p.Arg24= Single submitter glycine encephalopathy
p.Arg319= Single submitter glycine encephalopathy
p.Arg34= Single submitter glycine encephalopathy
p.Arg62= Single submitter glycine encephalopathy
p.Arg73= Single submitter
p.Arg94= Single submitter glycine encephalopathy
p.Asn134= Single submitter glycine encephalopathy
p.Asn165= Single submitter glycine encephalopathy
p.Asn177= Single submitter glycine encephalopathy
p.Asn359= Single submitter glycine encephalopathy
p.Asp129= Single submitter glycine encephalopathy
p.Asp158= Single submitter glycine encephalopathy
p.Asp197= Single submitter glycine encephalopathy
p.Asp229= Single submitter glycine encephalopathy
p.Asp262= Single submitter glycine encephalopathy
p.Asp80= Single submitter glycine encephalopathy
p.Asp93= Single submitter glycine encephalopathy
p.Cys218= Single submitter glycine encephalopathy
p.Cys223= Single submitter glycine encephalopathy
p.Cys271= Single submitter glycine encephalopathy
p.Cys351= Single submitter glycine encephalopathy
p.Cys367= Single submitter glycine encephalopathy
p.Cys76= Single submitter glycine encephalopathy
p.Gln192= Single submitter glycine encephalopathy
p.Gln2= Single submitter glycine encephalopathy
p.Gln74= Single submitter glycine encephalopathy
p.Glu108= Single submitter glycine encephalopathy
p.Glu150= Single submitter glycine encephalopathy
p.Glu162= Single submitter glycine encephalopathy
p.Glu173= Single submitter glycine encephalopathy
p.Glu211= Single submitter glycine encephalopathy
p.Glu228= Single submitter glycine encephalopathy
p.Glu252= Single submitter glycine encephalopathy
p.Glu285= Single submitter glycine encephalopathy
p.Glu368= Single submitter glycine encephalopathy
p.Glu99= Single submitter glycine encephalopathy
p.Gly124= Single submitter glycine encephalopathy
p.Gly138= Single submitter glycine encephalopathy
p.Gly147= Single submitter glycine encephalopathy
p.Gly167= Single submitter glycine encephalopathy
p.Gly194= Single submitter glycine encephalopathy
p.Gly214= Single submitter glycine encephalopathy
p.Gly217= Single submitter glycine encephalopathy
p.Gly227= Single submitter glycine encephalopathy
p.Gly230= Single submitter glycine encephalopathy
p.Gly257= Single submitter glycine encephalopathy
p.Gly269= Single submitter glycine encephalopathy
p.Gly274= Single submitter glycine encephalopathy
p.Gly363= Single submitter glycine encephalopathy
p.Gly46= Single submitter glycine encephalopathy
p.Gly47= Single submitter glycine encephalopathy
p.His280= Single submitter glycine encephalopathy
p.His42= Single submitter glycine encephalopathy
p.His45= Single submitter glycine encephalopathy
p.Ile131= Single submitter glycine encephalopathy
p.Ile233= Single submitter glycine encephalopathy
p.Ile336= Single submitter glycine encephalopathy
p.Leu101= Single submitter glycine encephalopathy
p.Leu116= Single submitter glycine encephalopathy
p.Leu15= Single submitter glycine encephalopathy
p.Leu153= Single submitter glycine encephalopathy
p.Leu163= Single submitter glycine encephalopathy
p.Leu172= Single submitter glycine encephalopathy
p.Leu175= Single submitter glycine encephalopathy
p.Leu180= Single submitter glycine encephalopathy
p.Leu182= Single submitter glycine encephalopathy
p.Leu199= Single submitter glycine encephalopathy
p.Leu22= Single submitter glycine encephalopathy
p.Leu255= Single submitter glycine encephalopathy
p.Leu258= Single submitter glycine encephalopathy
p.Leu26= Single submitter glycine encephalopathy
p.Leu266= Single submitter glycine encephalopathy
p.Leu270= Single submitter glycine encephalopathy
p.Leu33= Single submitter glycine encephalopathy
p.Leu337= Single submitter glycine encephalopathy
p.Leu376= Single submitter glycine encephalopathy
p.Leu377= Single submitter glycine encephalopathy
p.Leu402= Single submitter glycine encephalopathy
p.Leu43= Single submitter glycine encephalopathy
p.Leu57= Single submitter glycine encephalopathy
p.Leu90= Single submitter glycine encephalopathy
p.Leu97= Single submitter glycine encephalopathy
p.Lys159= Single submitter glycine encephalopathy
p.Lys313= Single submitter glycine encephalopathy
p.Lys343= Single submitter glycine encephalopathy
p.Lys96= Single submitter glycine encephalopathy
p.Phe119= Single submitter glycine encephalopathy
p.Phe18= Single submitter glycine encephalopathy
p.Phe302= Single submitter glycine encephalopathy
p.Phe41= Single submitter glycine encephalopathy
p.Phe52= Single submitter glycine encephalopathy
p.Pro19= Single submitter glycine encephalopathy
p.Pro19Ser Single submitter Inborn genetic diseases
p.Pro20= Single submitter glycine encephalopathy
p.Pro203= Single submitter glycine encephalopathy
p.Pro236= Single submitter glycine encephalopathy
p.Pro25= Single submitter glycine encephalopathy
p.Pro251= Single submitter glycine encephalopathy
p.Pro283= Single submitter glycine encephalopathy
p.Pro335= Single submitter glycine encephalopathy
p.Pro354= Single submitter glycine encephalopathy
p.Pro366= Single submitter glycine encephalopathy
p.Pro37= Single submitter glycine encephalopathy
p.Pro58= Single submitter glycine encephalopathy
p.Ser117= Single submitter glycine encephalopathy
p.Ser144= Single submitter glycine encephalopathy
p.Ser207= Single submitter glycine encephalopathy
p.Ser216= Single submitter glycine encephalopathy
p.Ser234= Single submitter glycine encephalopathy
p.Ser234Leu Single submitter glycine encephalopathy
p.Ser263= Single submitter glycine encephalopathy
p.Ser27= Single submitter glycine encephalopathy
p.Ser289= Single submitter glycine encephalopathy
p.Ser334= Single submitter glycine encephalopathy
p.Ser353= Single submitter glycine encephalopathy
p.Ser6= Single submitter glycine encephalopathy
p.Ser68= Single submitter glycine encephalopathy
p.Ser77= Single submitter glycine encephalopathy
p.Thr115= Single submitter glycine encephalopathy
p.Thr120= Single submitter glycine encephalopathy
p.Thr133= Single submitter glycine encephalopathy
p.Thr206= Single submitter glycine encephalopathy
p.Thr221= Single submitter glycine encephalopathy
p.Thr281= Single submitter glycine encephalopathy
p.Thr346= Single submitter glycine encephalopathy
p.Thr374= Single submitter glycine encephalopathy
p.Thr397= Single submitter glycine encephalopathy
p.Thr401= Single submitter glycine encephalopathy
p.Thr66= Single submitter glycine encephalopathy
p.Thr72= Single submitter glycine encephalopathy
p.Thr87= Single submitter glycine encephalopathy
p.Tyr141= Single submitter glycine encephalopathy
p.Tyr364= Single submitter glycine encephalopathy
p.Tyr399= Single submitter glycine encephalopathy
p.Tyr61= Single submitter glycine encephalopathy
p.Val102= Single submitter glycine encephalopathy
p.Val174= Single submitter glycine encephalopathy
p.Val195= Single submitter glycine encephalopathy
p.Val231= Single submitter glycine encephalopathy
p.Val235= Single submitter glycine encephalopathy
p.Val284= Single submitter glycine encephalopathy

Uncertain significance 226

c.339+3G>A Multiple submitters glycine encephalopathy
c.697-3C>T Multiple submitters glycine encephalopathy
c.*545C>T Multiple submitters glycine encephalopathy
c.*86G>T Multiple submitters Inborn genetic diseases
p.Ala146Thr Multiple submitters glycine encephalopathy ⚠
p.Ala240Glu Multiple submitters glycine encephalopathy 2 ⚠
p.Ala361Val Multiple submitters glycine encephalopathy ⚠
p.Arg10Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg10His Multiple submitters glycine encephalopathy ⚠
p.Arg14His Multiple submitters glycine encephalopathy ⚠
p.Arg168Thr Multiple submitters glycine encephalopathy ⚠
p.Arg219Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg297Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg318Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg320Leu Multiple submitters glycine encephalopathy ⚠
p.Arg34Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg371Cys Multiple submitters glycine encephalopathy ⚠
p.Arg381Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg62Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg73His Multiple submitters glycine encephalopathy ⚠
p.Asn134Ser Multiple submitters glycine encephalopathy ⚠
p.Asp176Asn Multiple submitters glycine encephalopathy ⚠
p.Cys148Phe Multiple submitters glycine encephalopathy ⚠
p.Gln317Arg Multiple submitters Inborn genetic diseases ⚠
p.Glu122Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu379Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly293Glu Multiple submitters glycine encephalopathy ⚠
p.Gly341Ser Multiple submitters glycine encephalopathy ⚠
p.Gly46Ser Multiple submitters glycine encephalopathy ⚠
p.His65Arg Multiple submitters glycine encephalopathy ⚠
p.Ile277Thr Multiple submitters glycine encephalopathy ⚠
p.Leu26His Multiple submitters glycine encephalopathy ⚠
p.Leu57Pro Multiple submitters glycine encephalopathy ⚠
p.Met324del Multiple submitters glycine encephalopathy
p.Met324Ile Multiple submitters Inborn genetic diseases ⚠
p.Met386Thr Multiple submitters glycine encephalopathy ⚠
p.Phe213Cys Multiple submitters Inborn genetic diseases ⚠
p.Pro20Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro251Arg Multiple submitters glycine encephalopathy ⚠
p.Pro366Leu Multiple submitters glycine encephalopathy ⚠
p.Pro58Leu Multiple submitters glycine encephalopathy ⚠
p.Ser100Gly Multiple submitters glycine encephalopathy ⚠
p.Ser144Phe Multiple submitters glycine encephalopathy ⚠
p.Ser68Leu Multiple submitters glycine encephalopathy ⚠
p.Thr120Ile Multiple submitters glycine encephalopathy ⚠
p.Thr120Ser Multiple submitters glycine encephalopathy ⚠
p.Thr135Ala Multiple submitters glycine encephalopathy ⚠
p.Thr401Asn Multiple submitters Inborn genetic diseases ⚠
p.Tyr400Ser Multiple submitters glycine encephalopathy ⚠
p.Val220Met Multiple submitters glycine encephalopathy ⚠
p.Val5Leu Multiple submitters glycine encephalopathy ⚠
p.Val5Leu Multiple submitters Inborn genetic diseases ⚠
c.1033+5G>A Single submitter glycine encephalopathy 2
c.1034-1G>C Single submitter glycine encephalopathy
c.258+6C>G Single submitter glycine encephalopathy
c.259-13A>G Single submitter glycine encephalopathy
c.339+3G>T Single submitter glycine encephalopathy
c.550+5G>A Single submitter glycine encephalopathy
c.551-18C>G Single submitter glycine encephalopathy
c.697-14G>A Single submitter glycine encephalopathy
c.90+4G>A Single submitter glycine encephalopathy
c.90+5G>C Single submitter glycine encephalopathy
c.91-17A>G Single submitter glycine encephalopathy
c.-100C>G Single submitter glycine encephalopathy
c.-100C>T Single submitter glycine encephalopathy
c.-136T>C Single submitter glycine encephalopathy
c.-206G>A Single submitter glycine encephalopathy
c.-226G>A Single submitter glycine encephalopathy
c.-66A>G Single submitter glycine encephalopathy 1
c.*163G>C Single submitter glycine encephalopathy
c.*407T>C Single submitter glycine encephalopathy
c.*424G>C Single submitter glycine encephalopathy
c.*616C>T Single submitter glycine encephalopathy
c.*621A>G Single submitter glycine encephalopathy
c.*678C>G Single submitter glycine encephalopathy
p.Ala107Val Single submitter Inborn genetic diseases ⚠
p.Ala178Val Single submitter glycine encephalopathy ⚠
p.Ala188Thr Single submitter glycine encephalopathy ⚠
p.Ala193Gly Single submitter glycine encephalopathy ⚠
p.Ala21Gly Single submitter Inborn genetic diseases ⚠
p.Ala21Val Single submitter glycine encephalopathy ⚠
p.Ala240Val Single submitter glycine encephalopathy ⚠
p.Ala298Thr Single submitter glycine encephalopathy ⚠
p.Ala29Val Single submitter glycine encephalopathy ⚠
p.Ala328Thr Single submitter glycine encephalopathy ⚠
p.Ala361Thr Single submitter glycine encephalopathy 2 ⚠
p.Ala44Thr Single submitter glycine encephalopathy ⚠
p.Ala4Pro Single submitter glycine encephalopathy ⚠
p.Ala53Val Single submitter glycine encephalopathy ⚠
p.Arg10Pro Single submitter glycine encephalopathy ⚠
p.Arg110Thr Single submitter Inborn genetic diseases ⚠
p.Arg14Cys Single submitter glycine encephalopathy ⚠
p.Arg219His Single submitter glycine encephalopathy ⚠
p.Arg24Cys Single submitter glycine encephalopathy ⚠
p.Arg24Gly Single submitter glycine encephalopathy ⚠
p.Arg295Cys Single submitter glycine encephalopathy ⚠
p.Arg318Gln Single submitter glycine encephalopathy ⚠
p.Arg35Lys Single submitter glycine encephalopathy ⚠
p.Arg381= Single submitter glycine encephalopathy
p.Arg381Trp Single submitter glycine encephalopathy ⚠
p.Arg3Trp Single submitter Inborn genetic diseases ⚠
p.Arg62Gln Single submitter glycine encephalopathy ⚠
p.Arg73Ser Single submitter ⚠
p.Asn112Ser Single submitter glycine encephalopathy ⚠
p.Asn121Ser Single submitter glycine encephalopathy 1 ⚠
p.Asn145Ser Single submitter glycine encephalopathy ⚠
p.Asn165Thr Single submitter Inborn genetic diseases ⚠
p.Asn177Asp Single submitter glycine encephalopathy ⚠
p.Asn359Thr Single submitter glycine encephalopathy ⚠
p.Asp197Asn Single submitter Inborn genetic diseases ⚠
p.Asp63Glu Single submitter glycine encephalopathy ⚠
p.Asp63Gly Single submitter glycine encephalopathy ⚠
p.Cys23Arg Single submitter glycine encephalopathy ⚠
p.Cys367Gly Single submitter Inborn genetic diseases ⚠
p.Gln113Arg Single submitter Inborn genetic diseases ⚠
p.Gln189Pro Single submitter glycine encephalopathy ⚠
p.Gln385del Single submitter glycine encephalopathy
p.Gln385His Single submitter glycine encephalopathy ⚠
p.Glu108Lys Single submitter Inborn genetic diseases ⚠
p.Glu150Lys Single submitter glycine encephalopathy ⚠
p.Glu252Lys Single submitter glycine encephalopathy ⚠
p.Glu279_His280insAsnAspIleAspGlu Single submitter glycine encephalopathy
p.Glu368Lys Single submitter Inborn genetic diseases ⚠
p.Gly114Glu Single submitter glycine encephalopathy ⚠
p.Gly124Glu Single submitter glycine encephalopathy ⚠
p.Gly125Ser Single submitter glycine encephalopathy ⚠
p.Gly12Asp Single submitter glycine encephalopathy ⚠
p.Gly171Asp Single submitter glycine encephalopathy ⚠
p.Gly194Ser Single submitter glycine encephalopathy ⚠
p.Gly214Ala Single submitter Inborn genetic diseases ⚠
p.Gly217Ser Single submitter Inborn genetic diseases ⚠
p.Gly269Ser Single submitter glycine encephalopathy ⚠
p.Gly274Glu Single submitter Inborn genetic diseases ⚠
p.Gly286Asp Single submitter glycine encephalopathy ⚠
p.Gly286Ser Single submitter glycine encephalopathy ⚠
p.Gly304Glu Single submitter glycine encephalopathy ⚠
p.Gly47Ala Single submitter ⚠
p.Gly91del Single submitter glycine encephalopathy
p.His139Asp Single submitter glycine encephalopathy ⚠
p.Ile277Asn Single submitter glycine encephalopathy ⚠
p.Ile308Thr Single submitter glycine encephalopathy ⚠
p.Ile344Phe Single submitter glycine encephalopathy ⚠
p.Ile89Arg Single submitter ⚠
p.Leu243Met Single submitter glycine encephalopathy ⚠
p.Leu402del Single submitter glycine encephalopathy
p.Leu402Phe Single submitter glycine encephalopathy ⚠
p.Leu90Pro Single submitter glycine encephalopathy
p.Lys159Arg Single submitter glycine encephalopathy ⚠
p.Lys358Thr Single submitter glycine encephalopathy ⚠
p.Lys403fs Single submitter glycine encephalopathy
p.Lys88Thr Single submitter Inborn genetic diseases ⚠
p.Met156Thr Single submitter glycine encephalopathy ⚠
p.Met205Arg Single submitter glycine encephalopathy ⚠
p.Met205Val Single submitter glycine encephalopathy ⚠
p.Met375Thr Single submitter glycine encephalopathy ⚠
p.Met84Lys Single submitter glycine encephalopathy ⚠
p.Met84Val Single submitter glycine encephalopathy 2 ⚠
p.Phe18Leu Single submitter glycine encephalopathy ⚠
p.Phe394Ser Single submitter glycine encephalopathy ⚠
p.Phe52Cys Single submitter glycine encephalopathy ⚠
p.Phe52Ser Single submitter glycine encephalopathy ⚠
p.Phe79Ile Single submitter glycine encephalopathy ⚠
p.Pro20_Ala21insPro Single submitter glycine encephalopathy
p.Pro25Ser Single submitter glycine encephalopathy ⚠
p.Pro310Ser Single submitter glycine encephalopathy ⚠
p.Pro354Ser Single submitter Inborn genetic diseases ⚠
p.Pro37Leu Single submitter glycine encephalopathy ⚠
p.Pro396Leu Single submitter glycine encephalopathy ⚠
p.Ser334Ile Single submitter glycine encephalopathy ⚠
p.Ser353Cys Single submitter Inborn genetic diseases ⚠
p.Ser370Gly Single submitter glycine encephalopathy ⚠
p.Ser64Arg Single submitter ⚠
p.Thr115Ile Single submitter Inborn genetic diseases ⚠
p.Thr226Ile Single submitter glycine encephalopathy ⚠
p.Thr281Ala Single submitter glycine encephalopathy ⚠
p.Thr66Ala Single submitter glycine encephalopathy ⚠
p.Tyr369Cys Single submitter ⚠
p.Tyr39Cys Single submitter glycine encephalopathy ⚠
p.Tyr400Cys Single submitter glycine encephalopathy ⚠
p.Tyr400His Single submitter glycine encephalopathy ⚠
p.Val142Gly Single submitter glycine encephalopathy ⚠
p.Val143Leu Single submitter Inborn genetic diseases ⚠
p.Val195Ala Single submitter glycine encephalopathy ⚠
p.Val209Met Single submitter glycine encephalopathy ⚠
p.Val215Leu Single submitter glycine encephalopathy ⚠
p.Val215Met Single submitter glycine encephalopathy ⚠
p.Val241Ile Single submitter glycine encephalopathy ⚠
p.Val284Leu Single submitter ⚠
p.Val284Met Single submitter glycine encephalopathy ⚠
p.Val316Leu Single submitter glycine encephalopathy ⚠
p.Val321Ala Single submitter glycine encephalopathy ⚠
p.Val321Leu Single submitter glycine encephalopathy ⚠
p.Val32Ala Single submitter glycine encephalopathy ⚠
p.Val347Ala Single submitter glycine encephalopathy ⚠
p.Val347Leu Single submitter glycine encephalopathy ⚠
p.Val365Ala Single submitter Inborn genetic diseases ⚠
p.Val380Met Single submitter glycine encephalopathy ⚠
p.Val388Ile Single submitter glycine encephalopathy ⚠
p.Val59Met Single submitter glycine encephalopathy ⚠
p.Val5Ile Single submitter glycine encephalopathy ⚠
p.Val81Ala Single submitter glycine encephalopathy ⚠
p.Val81Met Single submitter glycine encephalopathy ⚠
p.Val8Met Single submitter glycine encephalopathy ⚠
c.1033+2dup No assertion criteria glycine encephalopathy 1
c.1034-4A>G No assertion criteria glycine encephalopathy
c.471+10C>A No assertion criteria glycine encephalopathy
c.550+8G>T No assertion criteria glycine encephalopathy
c.697-6A>G No assertion criteria glycine encephalopathy
c.877+4A>T No assertion criteria glycine encephalopathy
c.-1749G>C No assertion criteria glycine encephalopathy
c.-5C>A No assertion criteria glycine encephalopathy
p.Ala21Thr No assertion criteria glycine encephalopathy ⚠
p.Ala9Ser No assertion criteria glycine encephalopathy ⚠
p.Arg381Leu No assertion criteria glycine encephalopathy ⚠
p.Asp198Val No assertion criteria ⚠
p.Cys367Arg No assertion criteria glycine encephalopathy ⚠
p.Cys76Trp No assertion criteria glycine encephalopathy ⚠
p.Gly314= No assertion criteria glycine encephalopathy
p.His71Gln No assertion criteria glycine encephalopathy ⚠
p.Leu70Met No assertion criteria glycine encephalopathy ⚠
p.Met386Val No assertion criteria glycine encephalopathy ⚠
p.Pro111Gln No assertion criteria glycine encephalopathy ⚠
p.Pro236_Val237dup No assertion criteria glycine encephalopathy 1
p.Tyr400fs No assertion criteria glycine encephalopathy 1
p.Val309Phe No assertion criteria glycine encephalopathy ⚠
p.Val32Met No assertion criteria glycine encephalopathy ⚠