GLDC — 2431 ClinVar variants

All ClinVar germline GLDC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 719 flagged for review →

178 Pathogenic · 68 Pathogenic/Likely pathogenic · 218 Likely pathogenic · 100 Conflicting · 95 Benign · 26 Benign/Likely benign · 1017 Likely benign · 729 Uncertain significance

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

⚑ Evidence disagreements 719

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 vs ClinVar 11

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

GLDC p.Arg962Gln Likely pathogenic Multiple submitters
glycine encephalopathy 1
GLDC p.Ala733Ser Likely pathogenic Single submitter
glycine encephalopathy
GLDC p.Arg962Trp Likely pathogenic Single submitter
glycine encephalopathy
GLDC p.Asn150Ser Likely pathogenic Single submitter
glycine encephalopathy
GLDC p.Glu967Asp Likely pathogenic Single submitter
glycine encephalopathy 1
GLDC p.His775Tyr Pathogenic Single submitter
glycine encephalopathy
GLDC p.Leu716Phe Likely pathogenic Single submitter
glycine encephalopathy
GLDC p.Ser527Thr Pathogenic Single submitter
glycine encephalopathy
GLDC p.Ala283Gly Likely pathogenic No assertion criteria
glycine encephalopathy
GLDC p.Asn533Tyr Likely pathogenic No assertion criteria
glycine encephalopathy
GLDC p.Tyr138Phe Likely pathogenic No assertion criteria
glycine encephalopathy

Predictors agree, ClinVar conflicts 57

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

GLDC p.Ala64Ser Conflicting Single submitter
glycine encephalopathy 1
GLDC p.Ala64Thr Conflicting Single submitter
glycine encephalopathy
GLDC p.Arg149Trp Conflicting Single submitter
GLDC-related disorders
GLDC p.Arg14Ser Conflicting Single submitter
Inborn genetic diseases
GLDC p.Arg236Pro Conflicting Single submitter
glycine encephalopathy
GLDC p.Arg456Gln Conflicting Single submitter
glycine encephalopathy
GLDC p.Arg461Pro Conflicting Single submitter
glycine encephalopathy
GLDC p.Arg59Thr Conflicting Single submitter
Inborn genetic diseases
GLDC p.Arg790Trp Conflicting Single submitter
glycine encephalopathy 1
GLDC p.Asn616Asp Conflicting Single submitter
glycine encephalopathy
GLDC p.Asn709Ser Conflicting Single submitter
Inborn genetic diseases
GLDC p.Asn732Lys Conflicting Single submitter
Inborn genetic diseases
GLDC p.Asn980Asp Conflicting Single submitter
glycine encephalopathy
GLDC p.Asp483Asn Conflicting Single submitter
glycine encephalopathy
GLDC p.Asp746His Conflicting Single submitter
glycine encephalopathy 1
GLDC p.Asp880Val Conflicting Single submitter
glycine encephalopathy 1
GLDC p.Cys291Arg Conflicting Single submitter
glycine encephalopathy
GLDC p.Gln587Glu Conflicting Single submitter
glycine encephalopathy
GLDC p.Glu862Lys Conflicting Single submitter
glycine encephalopathy 1
GLDC p.Gly18Cys Conflicting Single submitter
glycine encephalopathy
GLDC p.Gly42Arg Conflicting Single submitter
Inborn genetic diseases
GLDC p.Gly994Arg Conflicting Single submitter
glycine encephalopathy 1
GLDC p.His330Arg Conflicting Single submitter
glycine encephalopathy
GLDC p.His580Asp Conflicting Single submitter
glycine encephalopathy
GLDC p.His753Gln Conflicting Single submitter
glycine encephalopathy
GLDC p.Ile381Thr Conflicting Single submitter
glycine encephalopathy
GLDC p.Ile717Val Conflicting Single submitter
glycine encephalopathy
GLDC p.Leu207Val Conflicting Single submitter
glycine encephalopathy
GLDC p.Leu296Phe Conflicting Single submitter
glycine encephalopathy
GLDC p.Leu555Arg Conflicting Single submitter
glycine encephalopathy
GLDC p.Leu56Phe Conflicting Single submitter
Inborn genetic diseases
GLDC p.Leu788Val Conflicting Single submitter
Inborn genetic diseases
GLDC p.Leu79Pro Conflicting Single submitter
glycine encephalopathy
GLDC p.Lys540Gln Conflicting Single submitter
glycine encephalopathy
GLDC p.Met107Val Conflicting Single submitter
glycine encephalopathy
GLDC p.Met552Val Conflicting Single submitter
glycine encephalopathy 1
GLDC p.Pro345Thr Conflicting Single submitter
glycine encephalopathy
GLDC p.Pro509Ala Conflicting Single submitter
glycine encephalopathy 1
GLDC p.Pro518Arg Conflicting Single submitter
Inborn genetic diseases
GLDC p.Pro647Leu Conflicting Single submitter
Smith-Magenis Syndrome-like
GLDC p.Pro70Arg Conflicting Single submitter
glycine encephalopathy
GLDC p.Pro765Ser Conflicting Single submitter
glycine encephalopathy
GLDC p.Ser169Pro Conflicting Single submitter
glycine encephalopathy
GLDC p.Ser910Leu Conflicting Single submitter
glycine encephalopathy
GLDC p.Ser951Tyr Conflicting Single submitter
glycine encephalopathy 1
GLDC p.Thr146Lys Conflicting Single submitter
glycine encephalopathy
GLDC p.Thr146Met Conflicting Single submitter
glycine encephalopathy 1
GLDC p.Thr383Ile Conflicting Single submitter
glycine encephalopathy
GLDC p.Thr846Lys Conflicting Single submitter
glycine encephalopathy
GLDC p.Tyr211Cys Conflicting Single submitter
glycine encephalopathy
GLDC p.Tyr839Cys Conflicting Single submitter
glycine encephalopathy 1
GLDC p.Val221Ile Conflicting Single submitter
Inborn genetic diseases
GLDC p.Val360Leu Conflicting Single submitter
glycine encephalopathy
GLDC p.Val611Gly Conflicting Single submitter
glycine encephalopathy
GLDC p.Val705Met Conflicting Single submitter
Inborn genetic diseases
GLDC p.Val785Ile Conflicting Single submitter
glycine encephalopathy
GLDC p.Val955Ile Conflicting Single submitter
glycine encephalopathy

Predictors lean, ClinVar uncertain 449

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 449

GLDC p.Ala204Thr Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Ala290Thr Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ala290Val Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ala425Thr Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ala454Thr Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ala5Pro Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ala624Gly Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ala777Thr Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ala7Val Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Arg149Gln Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Arg216Gly Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Arg337Gln Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Arg790Gln Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Arg849Gly Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Arg941Thr Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Asn127Lys Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Asn477Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Asn526His Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Asn98Asp Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Asn98Lys Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Asp43Tyr Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Asp671Glu Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Asp671His Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Asp793Val Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Cys210Tyr Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Cys738Ser Uncertain significance Multiple submitters
glycine encephalopathy 1
GLDC p.Gln128Arg Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Gln234Glu Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Gln523Glu Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Glu278Lys Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Glu448Gln Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Glu504Gln Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Glu638Asp Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Glu77Asp Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Glu934Asp Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Gly328Glu Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Gly744Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.His213Asn Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.His580Arg Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.His959Arg Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ile786Val Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ile834Thr Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ile989Thr Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Leu176Phe Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Leu176Ser Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Leu365Pro Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Leu387Val Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Leu422Ile Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Leu90Phe Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Lys1016Asn Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Lys215Glu Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Lys272Gln Uncertain significance Multiple submitters
GLDC p.Lys842Asn Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Met660Val Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Met840Lys Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Met923Thr Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Phe276Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Phe460Val Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Pro1003Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Pro110Ser Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Pro28Leu Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Pro32Ser Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Pro518Leu Uncertain significance Multiple submitters
glycine encephalopathy 1
GLDC p.Pro584Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Pro96Ser Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ser37Asn Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ser445Pro Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ser50Leu Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ser527Arg Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ser748Leu Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ser957Pro Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Thr356Ser Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Thr367Ile Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Thr475Ile Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Thr516Ala Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Thr606Ile Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Thr799Ser Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Thr867Met Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Tyr993Cys Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Val221Ala Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Val233Ala Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Val679Ile Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Val968Ala Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Val976Met Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Val999Ile Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ala1018Val Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala118Thr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala23Thr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala313Pro Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala31Ser Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala331Val Uncertain significance Single submitter
glycine encephalopathy 1
GLDC p.Ala355Thr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala355Val Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala377Pro Uncertain significance Single submitter
GLDC p.Ala386Thr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala47Pro Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala47Thr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala49Ser Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala569Val Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala577Thr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala588Pro Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala5Ser Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala683Gly Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala683Thr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala729Gly Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala777Ser Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala794Gly Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala816Val Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala829Thr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala837Val Uncertain significance Single submitter
GLDC p.Ala855Thr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala855Val Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala878Val Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala892Thr Uncertain significance Single submitter
Inborn genetic diseases
GLDC p.Ala892Val Uncertain significance Single submitter
glycine encephalopathy 1
GLDC p.Ala931Thr Uncertain significance Single submitter
GLDC p.Ala97Thr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala97Val Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Arg1017Lys Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Arg1017Met Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Arg11Cys Uncertain significance Single submitter
Inborn genetic diseases
GLDC p.Arg11Ser Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Arg212Ile Uncertain significance Single submitter
GLDC p.Arg216Trp Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Arg217Met Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Arg303Trp Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Arg33Trp Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Arg353Lys Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Arg409Ser Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Arg410Ser Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Arg424Gln Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Arg506Thr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Arg59Lys Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Arg65Gln Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Arg66Thr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Arg76Thr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Arg856Thr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Arg868Thr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Arg884Gly Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Arg918Thr Uncertain significance Single submitter
Inborn genetic diseases
GLDC p.Arg927Trp Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Asn178Lys Uncertain significance Single submitter
Inborn genetic diseases
GLDC p.Asn477Ile Uncertain significance Single submitter
GLDC p.Asn563Lys Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Asn654Ser Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Asn709Asp Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Asn709Tyr Uncertain significance Single submitter
GLDC p.Asn730Lys Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Asn782Ser Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Asn838His Uncertain significance Single submitter
glycine encephalopathy

Predictors split 202

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 202

GLDC p.Ala313Ser Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ala453Ser Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ala624Thr Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ala624Val Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ala816Thr Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Arg212Lys Uncertain significance Multiple submitters
glycine encephalopathy 1
GLDC p.Arg224Cys Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Arg224His Benign/Likely benign Multiple submitters
glycine encephalopathy
GLDC p.Arg374Lys Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Arg456Trp Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Arg55Gly Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Arg843Gln Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Arg937Cys Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Arg937His Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Asn193Ser Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Asp465Gly Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Asp61Glu Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Cys291Gly Benign/Likely benign Multiple submitters
glycine encephalopathy
GLDC p.Cys4Tyr Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Gly48Trp Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Gly83Arg Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Gly857Asp Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ile372Val Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Leu105Phe Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Leu296Ile Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Leu568Val Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Leu585Pro Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Leu716His Uncertain significance Multiple submitters
glycine encephalopathy 1
GLDC p.Leu865Met Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Leu916Val Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Lys439Asn Pathogenic/Likely pathogenic Multiple submitters
glycine encephalopathy
GLDC p.Lys447Met Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Lys871Arg Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Met182Val Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Met840Val Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Phe264Leu Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Phe334Leu Uncertain significance Multiple submitters
glycine encephalopathy 1
GLDC p.Pro249Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Pro249Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Pro778Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Pro804Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Pro944Leu Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ser3Tyr Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ser401Phe Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Thr201Ser Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Thr235Ser Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Thr277Met Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Thr572Ala Uncertain significance Multiple submitters
Inborn genetic diseases
GLDC p.Thr642Met Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Thr985Met Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Val280Met Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Val611Leu Uncertain significance Multiple submitters
GLDC p.Val713Met Uncertain significance Multiple submitters
glycine encephalopathy
GLDC p.Ala122Val Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala192Gly Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala194Ser Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala194Thr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala283Thr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala313Thr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala408Ser Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala569Pro Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala837Ser Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ala878Thr Uncertain significance Single submitter
GLDC p.Ala892Ser Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Arg100His Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Arg347Lys Likely pathogenic Single submitter
glycine encephalopathy
GLDC p.Arg410Lys Conflicting Single submitter
glycine encephalopathy
GLDC p.Arg55His Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Arg65Pro Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Arg739Cys Conflicting Single submitter
glycine encephalopathy 1
GLDC p.Arg927Gln Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Asn150Thr Likely pathogenic Single submitter
glycine encephalopathy
GLDC p.Asn178Ser Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Asn214Lys Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Asn413Tyr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Asn526Tyr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Asn578His Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Asn616Ser Conflicting Single submitter
glycine encephalopathy
GLDC p.Asn703Asp Uncertain significance Single submitter
Inborn genetic diseases
GLDC p.Asp258Tyr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Asp375Gly Uncertain significance Single submitter
Inborn genetic diseases
GLDC p.Asp482Glu Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Asp586Tyr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Asp601His Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Asp62Tyr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Asp72Tyr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Asp88Asn Conflicting Single submitter
glycine encephalopathy
GLDC p.Asp88Gly Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Asp912Glu Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Asp939His Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Asp995Asn Likely pathogenic Single submitter
glycine encephalopathy
GLDC p.Cys112Tyr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Cys490Trp Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Cys4Arg Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Gln180Glu Uncertain significance Single submitter
GLDC p.Gln208His Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Gln593His Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Gln996His Conflicting Single submitter
Inborn genetic diseases
GLDC p.Glu77Gly Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Glu967Gly Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Gly13Asp Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Gly156Arg Pathogenic Single submitter
glycine encephalopathy
GLDC p.Gly241Arg Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Gly261Ala Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Gly287Arg Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Gly309Arg Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Gly489Asp Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Gly637Glu Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Gly639Glu Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Gly69Ser Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Gly71Trp Uncertain significance Single submitter
GLDC p.Gly771Ala Conflicting Single submitter
glycine encephalopathy
GLDC p.Gly823Asp Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Gly860Val Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Gly936Ser Uncertain significance Single submitter
glycine encephalopathy
GLDC p.His522Gln Uncertain significance Single submitter
glycine encephalopathy
GLDC p.His997Arg Uncertain significance Single submitter
glycine encephalopathy
GLDC p.His997Gln Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ile230Thr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ile629Val Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ile697Met Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ile697Thr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ile813Val Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ile834Met Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ile924Phe Uncertain significance Single submitter
Inborn genetic diseases
GLDC p.Ile926Val Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ile933Thr Conflicting Single submitter
glycine encephalopathy
GLDC p.Ile986Phe Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Ile986Thr Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Leu120Val Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Leu289Val Uncertain significance Single submitter
glycine encephalopathy 1
GLDC p.Leu340Phe Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Leu418Phe Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Leu681Ile Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Leu681Phe Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Leu692Val Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Leu811Val Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Leu90Met Uncertain significance Single submitter
GLDC p.Lys687Met Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Met538Ile Uncertain significance Single submitter
Inborn genetic diseases
GLDC p.Met78Ile Uncertain significance Single submitter
Inborn genetic diseases
GLDC p.Met821Leu Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Met895Val Conflicting Single submitter
glycine encephalopathy 1
GLDC p.Met947Ile Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Phe320Leu Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Phe395Leu Pathogenic Single submitter
glycine encephalopathy
GLDC p.Phe463Ser Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Phe513Leu Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Phe595Leu Uncertain significance Single submitter
glycine encephalopathy
GLDC p.Phe779Leu Uncertain significance Single submitter
glycine encephalopathy

All GLDC variants

Pathogenic 178

c.1580+2T>G Multiple submitters glycine encephalopathy
c.1851-1G>A Multiple submitters glycine encephalopathy
c.2316-1G>A Multiple submitters GLDC-related disorders
c.2665+1G>C Multiple submitters glycine encephalopathy 1
c.2665+1G>T Multiple submitters glycine encephalopathy
c.2838+2T>C Multiple submitters glycine encephalopathy
c.2919+1G>A Multiple submitters glycine encephalopathy
c.2919+1G>C Multiple submitters glycine encephalopathy
p.Ala283Pro Multiple submitters glycine encephalopathy
p.Ala624fs Multiple submitters glycine encephalopathy
p.Ala729fs Multiple submitters glycine encephalopathy 1
p.Ala802Val Multiple submitters glycine encephalopathy 1
p.Arg236Ter Multiple submitters glycine encephalopathy
p.Arg282fs Multiple submitters glycine encephalopathy
p.Arg337Ter Multiple submitters glycine encephalopathy 1
p.Arg461Gln Multiple submitters glycine encephalopathy 1
p.Arg596Ter Multiple submitters glycine encephalopathy 1
p.Arg630Ter Multiple submitters glycine encephalopathy
p.Arg843Ter Multiple submitters glycine encephalopathy 1
p.Asn543fs Multiple submitters glycine encephalopathy
p.Asp43fs Multiple submitters glycine encephalopathy
p.Asp482fs Multiple submitters glycine encephalopathy
p.Gln370Ter Multiple submitters glycine encephalopathy
p.Glu448Ter Multiple submitters glycine encephalopathy
p.Glu575Ter Multiple submitters glycine encephalopathy
p.Gly728Glu Multiple submitters glycine encephalopathy
p.Gly771Arg Multiple submitters glycine encephalopathy 1
p.Ser132Leu Multiple submitters glycine encephalopathy 1
p.Thr269Met Multiple submitters GLDC-related disorders
p.Thr352fs Multiple submitters GLDC-related disorders
p.Tyr164Ter Multiple submitters glycine encephalopathy
p.Tyr725Ter Multiple submitters glycine encephalopathy 1
p.Tyr964Ter Multiple submitters glycine encephalopathy
c.1058+2T>A Single submitter glycine encephalopathy
c.1058+2T>C Single submitter glycine encephalopathy
c.1580+1G>C Single submitter glycine encephalopathy
c.1581-42_1665+5del Single submitter glycine encephalopathy
c.1665+1G>A Single submitter glycine encephalopathy
c.1850+1G>T Single submitter glycine encephalopathy
c.2203-1G>A Single submitter glycine encephalopathy
c.2203-2A>T Single submitter glycine encephalopathy
c.2315+1G>C Single submitter glycine encephalopathy
c.2315+1G>T Single submitter glycine encephalopathy
c.2457+1G>A Single submitter glycine encephalopathy
c.2457+2T>A Single submitter glycine encephalopathy
c.2458-1G>T Single submitter glycine encephalopathy
c.2458-2A>G Single submitter glycine encephalopathy
c.2665+1G>A Single submitter glycine encephalopathy
c.2665+2T>C Single submitter glycine encephalopathy 1
c.2838+1G>A Single submitter glycine encephalopathy
c.2838+5G>T Single submitter glycine encephalopathy
c.334+1G>C Single submitter glycine encephalopathy
c.470+1G>C Single submitter glycine encephalopathy
c.636-1G>T Single submitter glycine encephalopathy
c.714-2A>G Single submitter glycine encephalopathy
c.861+2T>A Single submitter glycine encephalopathy
c.861+2T>C Single submitter glycine encephalopathy
c.862-1G>C Single submitter
c.862-5_883del Single submitter glycine encephalopathy
p.Ala192fs Single submitter glycine encephalopathy
p.Ala202Val Single submitter glycine encephalopathy
p.Ala31fs Single submitter glycine encephalopathy
p.Ala335fs Single submitter glycine encephalopathy
p.Ala803Val Single submitter glycine encephalopathy
p.Ala841Pro Single submitter glycine encephalopathy
p.Ala931fs Single submitter glycine encephalopathy
p.Arg103fs Single submitter glycine encephalopathy
p.Arg131Ter Single submitter glycine encephalopathy 1
p.Arg347Ser Single submitter glycine encephalopathy
p.Arg641Ter Single submitter glycine encephalopathy
p.Arg927fs Single submitter glycine encephalopathy
p.Arg962Pro Single submitter glycine encephalopathy
p.Asn178fs Single submitter glycine encephalopathy
p.Asn98fs Single submitter glycine encephalopathy
p.Asp480fs Single submitter glycine encephalopathy
p.Asp712fs Single submitter glycine encephalopathy
p.Asp742fs Single submitter glycine encephalopathy
p.Asp746Glu Single submitter glycine encephalopathy
p.Asp866His Single submitter glycine encephalopathy
p.Cys225Ter Single submitter glycine encephalopathy
p.Cys250fs Single submitter glycine encephalopathy
p.Cys291Tyr Single submitter glycine encephalopathy
p.Cys382fs Single submitter glycine encephalopathy
p.Cys442Ter Single submitter Inborn genetic diseases
p.Gln128fs Single submitter glycine encephalopathy
p.Gln170fs Single submitter glycine encephalopathy
p.Gln180Ter Single submitter glycine encephalopathy
p.Gln228Ter Single submitter glycine encephalopathy
p.Gln366Arg Single submitter glycine encephalopathy
p.Gln366Ter Single submitter glycine encephalopathy
p.Gln370Lys Single submitter glycine encephalopathy
p.Gln589Ter Single submitter glycine encephalopathy
p.Gln635Ter Single submitter glycine encephalopathy
p.Gln666Ter Single submitter glycine encephalopathy 1
p.Gln80Ter Single submitter glycine encephalopathy
p.Gln886Ter Single submitter glycine encephalopathy
p.Gln928Ter Single submitter glycine encephalopathy
p.Gln996Ter Single submitter glycine encephalopathy
p.Glu153Ter Single submitter glycine encephalopathy
p.Glu597Ter Single submitter glycine encephalopathy
p.Glu708Ter Single submitter glycine encephalopathy
p.Gly156Arg Single submitter glycine encephalopathy ⚠
p.Gly27fs Single submitter glycine encephalopathy
p.Gly350_Val351insTer Single submitter glycine encephalopathy
p.Gly41fs Single submitter glycine encephalopathy
p.Gly607Ser Single submitter glycine encephalopathy
p.Gly618Ter Single submitter glycine encephalopathy
p.Gly621fs Single submitter glycine encephalopathy
p.Gly763Asp Single submitter glycine encephalopathy
p.Gly860fs Single submitter glycine encephalopathy
p.Gly889Val Single submitter glycine encephalopathy
p.His431fs Single submitter glycine encephalopathy
p.His760fs Single submitter glycine encephalopathy
p.His775Tyr Single submitter glycine encephalopathy ⚠
p.Ile440fs Single submitter glycine encephalopathy
p.Ile546_Ser551del Single submitter glycine encephalopathy
p.Ile546fs Single submitter glycine encephalopathy
p.Ile770fs Single submitter glycine encephalopathy
p.Ile924fs Single submitter glycine encephalopathy
p.Leu120Ter Single submitter glycine encephalopathy
p.Leu151Ter Single submitter glycine encephalopathy
p.Leu176fs Single submitter glycine encephalopathy
p.Leu196fs Single submitter glycine encephalopathy
p.Leu22fs Single submitter glycine encephalopathy
p.Leu324fs Single submitter glycine encephalopathy
p.Leu365fs Single submitter glycine encephalopathy
p.Leu633Ter Single submitter glycine encephalopathy
p.Leu726Gln Single submitter Smith-Magenis Syndrome-like
p.Leu82Trp Single submitter glycine encephalopathy
p.Leu84fs Single submitter glycine encephalopathy
p.Leu865fs Single submitter glycine encephalopathy
p.Lys648fs Single submitter glycine encephalopathy
p.Lys773Ter Single submitter glycine encephalopathy
p.Lys819Glu Single submitter glycine encephalopathy
p.Met107fs Single submitter glycine encephalopathy
p.Met1Lys Single submitter glycine encephalopathy
p.Met1Thr Single submitter glycine encephalopathy
p.Met560Thr Single submitter glycine encephalopathy
p.Phe395Leu Single submitter glycine encephalopathy ⚠
p.Phe919Ile Single submitter glycine encephalopathy
p.Pro32fs Single submitter glycine encephalopathy
p.Pro70fs Single submitter glycine encephalopathy
p.Pro907Leu Single submitter glycine encephalopathy
p.Ser132Ter Single submitter glycine encephalopathy
p.Ser195fs Single submitter glycine encephalopathy
p.Ser26Ter Single submitter glycine encephalopathy
p.Ser419Ter Single submitter glycine encephalopathy
p.Ser471Pro Single submitter glycine encephalopathy
p.Ser527Thr Single submitter glycine encephalopathy ⚠
p.Ser657Asn Single submitter glycine encephalopathy
p.Ser948fs Single submitter glycine encephalopathy
p.Ser957fs Single submitter glycine encephalopathy
p.Thr119fs Single submitter glycine encephalopathy
p.Thr201fs Single submitter glycine encephalopathy
p.Thr702fs Single submitter glycine encephalopathy
p.Trp30Ter Single submitter glycine encephalopathy
p.Trp573Ter Single submitter glycine encephalopathy
p.Trp815Ter Single submitter glycine encephalopathy
p.Trp897Ter Single submitter glycine encephalopathy
p.Trp8Ter Single submitter glycine encephalopathy
p.Trp960Cys Single submitter glycine encephalopathy
p.Tyr138fs Single submitter glycine encephalopathy
p.Tyr164His Single submitter glycine encephalopathy
p.Tyr211Ter Single submitter glycine encephalopathy
p.Tyr266Ter Single submitter glycine encephalopathy
p.Tyr361Ter Single submitter glycine encephalopathy
p.Tyr537Ter Single submitter glycine encephalopathy
p.Tyr608Asp Single submitter glycine encephalopathy
p.Tyr632Ter Single submitter glycine encephalopathy
p.Tyr673Ter Single submitter glycine encephalopathy
p.Tyr725_Leu726insTer Single submitter glycine encephalopathy
p.Tyr848Ter Single submitter glycine encephalopathy
p.Tyr993fs Single submitter glycine encephalopathy
p.Tyr993Ter Single submitter glycine encephalopathy
p.Val111delinsAlaGlyArgGlyGlySerArgLeuTer Single submitter glycine encephalopathy
p.Val705fs Single submitter glycine encephalopathy
p.Val942fs Single submitter glycine encephalopathy
p.Gly761Arg No assertion criteria glycine encephalopathy 1

Pathogenic/Likely pathogenic 68

c.1401+1G>A Multiple submitters Inborn genetic diseases
c.2203-2A>G Multiple submitters glycine encephalopathy 1
c.2315+2T>A Multiple submitters glycine encephalopathy
c.2315+2T>G Multiple submitters glycine encephalopathy 1
c.2919+5G>T Multiple submitters glycine encephalopathy
c.334+1G>T Multiple submitters glycine encephalopathy 1
p.Ala237fs Multiple submitters glycine encephalopathy
p.Ala389Val Multiple submitters GLDC-related disorders
p.Ala794fs Multiple submitters glycine encephalopathy
p.Ala833Val Multiple submitters glycine encephalopathy
p.Arg362Cys Multiple submitters glycine encephalopathy
p.Arg373Gln Multiple submitters glycine encephalopathy
p.Arg373Trp Multiple submitters Inborn genetic diseases
p.Arg424Ter Multiple submitters glycine encephalopathy 1
p.Arg461Trp Multiple submitters GLDC-related disorders
p.Arg515Ser Multiple submitters glycine encephalopathy 1
p.Arg536Gln Multiple submitters glycine encephalopathy 1
p.Arg536Trp Multiple submitters glycine encephalopathy 1
p.Arg630Pro Multiple submitters glycine encephalopathy
p.Arg739His Multiple submitters GLDC-related disorders
p.Arg988Gln Multiple submitters GLDC-related disorders
p.Arg988Trp Multiple submitters glycine encephalopathy 1
p.Asn150Lys Multiple submitters glycine encephalopathy
p.Cys382Tyr Multiple submitters glycine encephalopathy 1
p.Cys644Tyr Multiple submitters glycine encephalopathy
p.Gln160Ter Multiple submitters glycine encephalopathy
p.Gln265fs Multiple submitters glycine encephalopathy
p.Gln2Ter Multiple submitters glycine encephalopathy
p.Gln430Ter Multiple submitters glycine encephalopathy
p.Gln610Ter Multiple submitters glycine encephalopathy
p.Gln723Ter Multiple submitters glycine encephalopathy
p.Gln828fs Multiple submitters glycine encephalopathy
p.Gln828Ter Multiple submitters glycine encephalopathy
p.Glu108Ter Multiple submitters glycine encephalopathy
p.Glu167Ter Multiple submitters GLDC-related disorders
p.Glu205fs Multiple submitters GLDC-related disorders
p.Glu877_Val879del Multiple submitters glycine encephalopathy
p.Glu877Ter Multiple submitters glycine encephalopathy
p.Gly618Arg Multiple submitters glycine encephalopathy
p.Gly860Arg Multiple submitters glycine encephalopathy
p.His651Arg Multiple submitters glycine encephalopathy
p.His775Arg Multiple submitters GLDC-related disorders
p.Ile810fs Multiple submitters glycine encephalopathy
p.Leu82Ser Multiple submitters glycine encephalopathy 1
p.Leu844Ter Multiple submitters glycine encephalopathy 1
p.Leu885Pro Multiple submitters glycine encephalopathy
p.Lys439Asn Multiple submitters glycine encephalopathy ⚠
p.Lys824Ter Multiple submitters glycine encephalopathy 1
p.Lys872Ter Multiple submitters glycine encephalopathy
p.Met560Val Multiple submitters glycine encephalopathy
p.Phe756del Multiple submitters glycine encephalopathy 1
p.Pro267Ala Multiple submitters glycine encephalopathy 1
p.Pro267Leu Multiple submitters glycine encephalopathy
p.Pro304Leu Multiple submitters glycine encephalopathy 1
p.Pro570fs Multiple submitters glycine encephalopathy 1
p.Pro581Arg Multiple submitters GLDC-related disorders
p.Pro893Leu Multiple submitters glycine encephalopathy
p.Ser142Ter Multiple submitters glycine encephalopathy
p.Ser551Ile Multiple submitters glycine encephalopathy 1
p.Ser564Ile Multiple submitters GLDC-related disorders
p.Thr830Met Multiple submitters glycine encephalopathy
p.Thr894Ala Multiple submitters glycine encephalopathy
p.Trp805Ter Multiple submitters GLDC-related disorder
p.Trp960Ter Multiple submitters glycine encephalopathy
p.Tyr161Cys Multiple submitters glycine encephalopathy
p.Tyr398Ter Multiple submitters glycine encephalopathy 1
p.Val905Gly Multiple submitters glycine encephalopathy 1
p.Leu10fs No assertion criteria

Likely pathogenic 218

c.2053-2A>G Multiple submitters glycine encephalopathy
c.2666-1G>A Multiple submitters glycine encephalopathy
c.2838+5G>A Multiple submitters glycine encephalopathy
c.635+1G>A Multiple submitters glycine encephalopathy
c.635+1G>C Multiple submitters glycine encephalopathy
p.Ala678del Multiple submitters glycine encephalopathy 1
p.Ala733Asp Multiple submitters glycine encephalopathy 1
p.Arg962Gln Multiple submitters glycine encephalopathy 1 ⚠
p.Asn730fs Multiple submitters glycine encephalopathy
p.Asp198Glu Multiple submitters glycine encephalopathy
p.Asp72fs Multiple submitters GLDC-related disorders
p.Gln285Ter Multiple submitters glycine encephalopathy
p.Gln457Ter Multiple submitters glycine encephalopathy
p.His950Arg Multiple submitters glycine encephalopathy
p.Leu302Ter Multiple submitters glycine encephalopathy 1
p.Ser132Trp Multiple submitters glycine encephalopathy 1
c.1057_1058+13del Single submitter glycine encephalopathy
c.1059-1G>C Single submitter glycine encephalopathy
c.1155+1G>T Single submitter glycine encephalopathy 1
c.1156-2A>T Single submitter glycine encephalopathy
c.1261+1G>C Single submitter glycine encephalopathy
c.1261+2T>A Single submitter glycine encephalopathy
c.1401+5G>A Single submitter
c.1401+5G>T Single submitter glycine encephalopathy
c.1402-1G>A Single submitter glycine encephalopathy
c.1402-1G>C Single submitter glycine encephalopathy 1
c.1402-2A>T Single submitter glycine encephalopathy
c.1577_1580+3delinsCACACAAG Single submitter glycine encephalopathy 1
c.1581-1G>A Single submitter glycine encephalopathy
c.1665+2del Single submitter glycine encephalopathy
c.1666-1G>A Single submitter glycine encephalopathy
c.1666-1G>C Single submitter glycine encephalopathy
c.1666-2A>G Single submitter glycine encephalopathy
c.1708-1G>A Single submitter glycine encephalopathy
c.1708-1G>C Single submitter glycine encephalopathy 1
c.1850+1del Single submitter glycine encephalopathy
c.1926+5G>A Single submitter glycine encephalopathy
c.1926+5G>C Single submitter glycine encephalopathy 1
c.1927-1G>A Single submitter glycine encephalopathy
c.2052+1G>A Single submitter glycine encephalopathy
c.2052+1G>C Single submitter glycine encephalopathy
c.2053-2A>C Single submitter glycine encephalopathy
c.255+2T>C Single submitter glycine encephalopathy
c.255+3A>T Single submitter glycine encephalopathy
c.256-1G>C Single submitter glycine encephalopathy 1
c.256-2A>G Single submitter glycine encephalopathy
c.2570-2A>G Single submitter glycine encephalopathy
c.2839-2A>C Single submitter glycine encephalopathy
c.335-1G>C Single submitter glycine encephalopathy
c.335-1G>T Single submitter glycine encephalopathy
c.471-1G>C Single submitter glycine encephalopathy
c.471-1G>T Single submitter glycine encephalopathy
c.471-2A>G Single submitter glycine encephalopathy
c.635+1G>T Single submitter glycine encephalopathy
c.636-2A>G Single submitter glycine encephalopathy
c.713+1G>A Single submitter glycine encephalopathy
c.714-1G>A Single submitter glycine encephalopathy
c.862-2A>G Single submitter glycine encephalopathy 1
p.Ala202fs Single submitter glycine encephalopathy
p.Ala202Gly Single submitter glycine encephalopathy
p.Ala729Glu Single submitter glycine encephalopathy
p.Ala733Ser Single submitter glycine encephalopathy ⚠
p.Ala733Thr Single submitter glycine encephalopathy
p.Ala969fs Single submitter glycine encephalopathy 1
p.Arg236Gln Single submitter glycine encephalopathy 1
p.Arg347Lys Single submitter glycine encephalopathy ⚠
p.Arg347Ter Single submitter glycine encephalopathy
p.Arg373Pro Single submitter glycine encephalopathy
p.Arg941fs Single submitter glycine encephalopathy
p.Arg962Trp Single submitter glycine encephalopathy ⚠
p.Arg988Gly Single submitter glycine encephalopathy
p.Asn150fs Single submitter glycine encephalopathy
p.Asn150Ser Single submitter glycine encephalopathy ⚠
p.Asn150Thr Single submitter glycine encephalopathy ⚠
p.Asn616Ile Single submitter glycine encephalopathy
p.Asn732fs Single submitter glycine encephalopathy 1
p.Asp258fs Single submitter glycine encephalopathy
p.Asp601delinsArgGlnTer Single submitter glycine encephalopathy
p.Asp609fs Single submitter glycine encephalopathy
p.Asp746Asn Single submitter glycine encephalopathy
p.Asp746Tyr Single submitter glycine encephalopathy
p.Asp880Ala Single submitter glycine encephalopathy
p.Asp995Asn Single submitter glycine encephalopathy ⚠
p.Cys1000fs Single submitter glycine encephalopathy 1
p.Cys184Ter Single submitter glycine encephalopathy
p.Cys300Arg Single submitter glycine encephalopathy 1
p.Cys300Ter Single submitter glycine encephalopathy
p.Cys382Ser Single submitter glycine encephalopathy
p.Cys612fs Single submitter glycine encephalopathy
p.Cys714Ser Single submitter glycine encephalopathy 1
p.Cys738fs Single submitter glycine encephalopathy
p.Gln145Ter Single submitter glycine encephalopathy
p.Gln165fs Single submitter glycine encephalopathy
p.Gln165Ter Single submitter glycine encephalopathy
p.Gln208Ter Single submitter glycine encephalopathy
p.Gln318fs Single submitter glycine encephalopathy
p.Gln455Ter Single submitter glycine encephalopathy
p.Gln592Ter Single submitter glycine encephalopathy
p.Gln734Ter Single submitter glycine encephalopathy
p.Gln75Ter Single submitter glycine encephalopathy 1
p.Glu245fs Single submitter glycine encephalopathy
p.Glu307Ter Single submitter glycine encephalopathy
p.Glu338Ter Single submitter glycine encephalopathy
p.Glu503fs Single submitter glycine encephalopathy
p.Glu504Ter Single submitter glycine encephalopathy
p.Glu604fs Single submitter glycine encephalopathy 1
p.Glu638Ter Single submitter glycine encephalopathy 1
p.Glu669fs Single submitter GLDC-related disorders
p.Glu690fs Single submitter glycine encephalopathy
p.Glu909Ter Single submitter glycine encephalopathy
p.Glu915Ter Single submitter glycine encephalopathy
p.Glu934Ter Single submitter glycine encephalopathy
p.Glu967Asp Single submitter glycine encephalopathy 1 ⚠
p.Gly156Glu Single submitter glycine encephalopathy
p.Gly156Ter Single submitter glycine encephalopathy
p.Gly25fs Single submitter glycine encephalopathy
p.Gly271Arg Single submitter glycine encephalopathy
p.Gly315Ser Single submitter glycine encephalopathy 1
p.Gly421Arg Single submitter glycine encephalopathy
p.Gly469Arg Single submitter glycine encephalopathy
p.Gly590Ter Single submitter glycine encephalopathy
p.Gly625Ter Single submitter glycine encephalopathy
p.Gly763Cys Single submitter glycine encephalopathy
p.Gly766Val Single submitter glycine encephalopathy
p.Gly768Ala Single submitter glycine encephalopathy
p.Gly825Asp Single submitter
p.His284Asn Single submitter glycine encephalopathy
p.His284Asp Single submitter glycine encephalopathy
p.His580Gln Single submitter glycine encephalopathy
p.His651Asp Single submitter glycine encephalopathy
p.His760Leu Single submitter glycine encephalopathy
p.His775Pro Single submitter glycine encephalopathy
p.Leu101Ter Single submitter glycine encephalopathy
p.Leu176Ter Single submitter glycine encephalopathy
p.Leu299Ter Single submitter glycine encephalopathy
p.Leu548Val Single submitter glycine encephalopathy
p.Leu602fs Single submitter glycine encephalopathy
p.Leu716Phe Single submitter glycine encephalopathy ⚠
p.Lys106fs Single submitter glycine encephalopathy
p.Lys358Ter Single submitter glycine encephalopathy
p.Lys376Glu Single submitter glycine encephalopathy
p.Lys376Thr Single submitter glycine encephalopathy
p.Lys447Ter Single submitter glycine encephalopathy
p.Lys540fs Single submitter glycine encephalopathy
p.Lys672Ter Single submitter glycine encephalopathy
p.Lys789fs Single submitter glycine encephalopathy
p.Lys872fs Single submitter glycine encephalopathy
p.Met252fs Single submitter glycine encephalopathy
p.Phe320fs Single submitter glycine encephalopathy
p.Phe434fs Single submitter glycine encephalopathy
p.Phe525fs Single submitter glycine encephalopathy
p.Phe706fs Single submitter glycine encephalopathy
p.Phe870fs Single submitter
p.Phe919Val Single submitter glycine encephalopathy
p.Pro304Gln Single submitter glycine encephalopathy
p.Pro615Leu Single submitter glycine encephalopathy
p.Pro615Thr Single submitter glycine encephalopathy
p.Pro647Arg Single submitter glycine encephalopathy
p.Pro759Arg Single submitter glycine encephalopathy
p.Pro769Arg Single submitter glycine encephalopathy 1
p.Pro893Ser Single submitter glycine encephalopathy ⚠
p.Pro984fs Single submitter
p.Ser155Ter Single submitter glycine encephalopathy 1
p.Ser527del Single submitter
p.Ser551Asn Single submitter glycine encephalopathy
p.Ser565Ter Single submitter glycine encephalopathy
p.Ser814Phe Single submitter glycine encephalopathy
p.Ser910Ter Single submitter glycine encephalopathy
p.Thr352Arg Single submitter glycine encephalopathy
p.Thr352Ile Single submitter glycine encephalopathy
p.Thr356fs Single submitter glycine encephalopathy
p.Thr559Asn Single submitter glycine encephalopathy
p.Thr698Ala Single submitter glycine encephalopathy
p.Thr894fs Single submitter glycine encephalopathy
p.Trp157Ter Single submitter glycine encephalopathy 1
p.Trp897Cys Single submitter glycine encephalopathy
p.Trp983Ter Single submitter glycine encephalopathy
p.Tyr266Asp Single submitter glycine encephalopathy
p.Tyr528Ter Single submitter glycine encephalopathy
p.Tyr673fs Single submitter glycine encephalopathy
p.Tyr699Ter Single submitter glycine encephalopathy
p.Tyr839Ter Single submitter glycine encephalopathy
p.Val183fs Single submitter glycine encephalopathy
p.Val360fs Single submitter glycine encephalopathy
p.Val446fs Single submitter glycine encephalopathy
p.Val735fs Single submitter glycine encephalopathy 1
c.1059-1G>T No assertion criteria glycine encephalopathy
c.1926+1G>A No assertion criteria glycine encephalopathy
c.255+1G>A No assertion criteria glycine encephalopathy
c.2839-1G>C No assertion criteria glycine encephalopathy
c.861+1G>T No assertion criteria glycine encephalopathy
p.Ala283Gly No assertion criteria glycine encephalopathy ⚠
p.Ala392fs No assertion criteria glycine encephalopathy
p.Ala694fs No assertion criteria glycine encephalopathy 1
p.Ala694Pro No assertion criteria glycine encephalopathy
p.Arg966Gly No assertion criteria glycine encephalopathy
p.Asn533Tyr No assertion criteria glycine encephalopathy ⚠
p.Cys644Phe No assertion criteria glycine encephalopathy
p.Glu270Ter No assertion criteria glycine encephalopathy
p.Gly171= No assertion criteria glycine encephalopathy
p.Gly728Arg No assertion criteria glycine encephalopathy
p.Gly762Arg No assertion criteria glycine encephalopathy
p.His371Asp No assertion criteria glycine encephalopathy
p.His718_Gln719delinsLeuLeuValTer No assertion criteria glycine encephalopathy
p.His753Pro No assertion criteria glycine encephalopathy
p.Ile440Asn No assertion criteria glycine encephalopathy
p.Leu296Arg No assertion criteria glycine encephalopathy
p.Leu429fs No assertion criteria glycine encephalopathy
p.Pro700Ala No assertion criteria glycine encephalopathy
p.Pro769Leu No assertion criteria glycine encephalopathy
p.Pro949Leu No assertion criteria glycine encephalopathy
p.Ser808fs No assertion criteria glycine encephalopathy
p.Thr187Lys No assertion criteria glycine encephalopathy
p.Thr702Ile No assertion criteria glycine encephalopathy
p.Tyr138Phe No assertion criteria glycine encephalopathy ⚠
p.Tyr608fs No assertion criteria glycine encephalopathy
p.Tyr858Ter No assertion criteria glycine encephalopathy
p.Tyr964fs No assertion criteria glycine encephalopathy 1

Conflicting classifications of pathogenicity 100

c.1156-7C>G Single submitter glycine encephalopathy
c.1402-13T>G Single submitter glycine encephalopathy 1
c.1402-14T>G Single submitter glycine encephalopathy
c.1483-15G>C Single submitter glycine encephalopathy
c.1484_1489del Single submitter glycine encephalopathy 1
c.1665+7A>T Single submitter glycine encephalopathy
c.1850+8C>A Single submitter glycine encephalopathy
c.1851-9C>G Single submitter glycine encephalopathy
c.1926+6T>C Single submitter glycine encephalopathy
c.1927-4G>A Single submitter glycine encephalopathy 1
c.2053-5C>G Single submitter glycine encephalopathy
c.255+8C>T Single submitter glycine encephalopathy
c.2569+8T>G Single submitter glycine encephalopathy
c.2570-10T>C Single submitter glycine encephalopathy
c.636-6C>T Single submitter Inborn genetic diseases
c.714-8C>G Single submitter glycine encephalopathy
c.861+11C>G Single submitter glycine encephalopathy
c.*5C>G Single submitter glycine encephalopathy
p.Ala64Ser Single submitter glycine encephalopathy 1 ⚠
p.Ala64Thr Single submitter glycine encephalopathy ⚠
p.Ala829= Single submitter glycine encephalopathy
p.Arg149Trp Single submitter GLDC-related disorders ⚠
p.Arg14Ser Single submitter Inborn genetic diseases ⚠
p.Arg236Pro Single submitter glycine encephalopathy ⚠
p.Arg410Lys Single submitter glycine encephalopathy ⚠
p.Arg456Gln Single submitter glycine encephalopathy ⚠
p.Arg461Pro Single submitter glycine encephalopathy ⚠
p.Arg59Thr Single submitter Inborn genetic diseases ⚠
p.Arg739Cys Single submitter glycine encephalopathy 1 ⚠
p.Arg790Trp Single submitter glycine encephalopathy 1 ⚠
p.Asn616Asp Single submitter glycine encephalopathy ⚠
p.Asn616Ser Single submitter glycine encephalopathy ⚠
p.Asn709Ser Single submitter Inborn genetic diseases ⚠
p.Asn732Lys Single submitter Inborn genetic diseases ⚠
p.Asn980Asp Single submitter glycine encephalopathy ⚠
p.Asp483Asn Single submitter glycine encephalopathy ⚠
p.Asp715= Single submitter glycine encephalopathy
p.Asp746His Single submitter glycine encephalopathy 1 ⚠
p.Asp880Val Single submitter glycine encephalopathy 1 ⚠
p.Asp88Asn Single submitter glycine encephalopathy ⚠
p.Cys291Arg Single submitter glycine encephalopathy ⚠
p.Gln587Glu Single submitter glycine encephalopathy ⚠
p.Gln610= Single submitter glycine encephalopathy
p.Gln996His Single submitter Inborn genetic diseases ⚠
p.Glu542= Single submitter glycine encephalopathy
p.Glu862Lys Single submitter glycine encephalopathy 1 ⚠
p.Gly18Cys Single submitter glycine encephalopathy ⚠
p.Gly42Arg Single submitter Inborn genetic diseases ⚠
p.Gly771Ala Single submitter glycine encephalopathy ⚠
p.Gly994Arg Single submitter glycine encephalopathy 1 ⚠
p.His330Arg Single submitter glycine encephalopathy ⚠
p.His580Asp Single submitter glycine encephalopathy ⚠
p.His753Gln Single submitter glycine encephalopathy ⚠
p.His959fs Single submitter glycine encephalopathy 1
p.Ile381Thr Single submitter glycine encephalopathy ⚠
p.Ile676= Single submitter glycine encephalopathy
p.Ile717Val Single submitter glycine encephalopathy ⚠
p.Ile933Thr Single submitter glycine encephalopathy ⚠
p.Leu207Val Single submitter glycine encephalopathy ⚠
p.Leu296Phe Single submitter glycine encephalopathy ⚠
p.Leu555Arg Single submitter glycine encephalopathy ⚠
p.Leu56Phe Single submitter Inborn genetic diseases ⚠
p.Leu716= Single submitter glycine encephalopathy
p.Leu776= Single submitter glycine encephalopathy
p.Leu788Val Single submitter Inborn genetic diseases ⚠
p.Leu79Pro Single submitter glycine encephalopathy ⚠
p.Leu973= Single submitter glycine encephalopathy
p.Lys540Gln Single submitter glycine encephalopathy ⚠
p.Met107Val Single submitter glycine encephalopathy ⚠
p.Met552Val Single submitter glycine encephalopathy 1 ⚠
p.Met895Val Single submitter glycine encephalopathy 1 ⚠
p.Phe975= Single submitter glycine encephalopathy
p.Pro110His Single submitter glycine encephalopathy ⚠
p.Pro166= Single submitter glycine encephalopathy
p.Pro345Thr Single submitter glycine encephalopathy ⚠
p.Pro509Ala Single submitter glycine encephalopathy 1 ⚠
p.Pro518Arg Single submitter Inborn genetic diseases ⚠
p.Pro647Leu Single submitter Smith-Magenis Syndrome-like ⚠
p.Pro70Arg Single submitter glycine encephalopathy ⚠
p.Pro765Ser Single submitter glycine encephalopathy ⚠
p.Pro784= Single submitter glycine encephalopathy
p.Ser169Pro Single submitter glycine encephalopathy ⚠
p.Ser471Cys Single submitter glycine encephalopathy ⚠
p.Ser551Gly Single submitter glycine encephalopathy 1 ⚠
p.Ser910Leu Single submitter glycine encephalopathy ⚠
p.Ser951Tyr Single submitter glycine encephalopathy 1 ⚠
p.Thr146Lys Single submitter glycine encephalopathy ⚠
p.Thr146Met Single submitter glycine encephalopathy 1 ⚠
p.Thr383Ile Single submitter glycine encephalopathy ⚠
p.Thr846Lys Single submitter glycine encephalopathy ⚠
p.Thr985= Single submitter glycine encephalopathy
p.Tyr211Cys Single submitter glycine encephalopathy ⚠
p.Tyr839Cys Single submitter glycine encephalopathy 1 ⚠
p.Val183= Single submitter glycine encephalopathy
p.Val221Ile Single submitter Inborn genetic diseases ⚠
p.Val360Leu Single submitter glycine encephalopathy ⚠
p.Val611Gly Single submitter glycine encephalopathy ⚠
p.Val705Met Single submitter Inborn genetic diseases ⚠
p.Val785Ile Single submitter glycine encephalopathy ⚠
p.Val955Ile Single submitter glycine encephalopathy ⚠

Benign 95

c.1058+144A>T Multiple submitters
c.1058+247T>A Multiple submitters
c.1058+81C>G Multiple submitters
c.1059-122T>C Multiple submitters
c.1059-169G>A Multiple submitters
c.1155+43C>T Multiple submitters glycine encephalopathy
c.1156-153A>T Multiple submitters
c.1156-56A>G Multiple submitters
c.1261+36A>G Multiple submitters glycine encephalopathy
c.1261+72G>A Multiple submitters glycine encephalopathy
c.1262-81C>G Multiple submitters
c.1401+48T>C Multiple submitters
c.1401+64G>C Multiple submitters
c.1402-84G>A Multiple submitters
c.1482+171A>G Multiple submitters
c.1482+22G>A Multiple submitters
c.1483-122A>T Multiple submitters
c.1483-156C>A Multiple submitters
c.1580+56T>C Multiple submitters
c.1581-118G>A Multiple submitters
c.1581-67G>T Multiple submitters
c.1665+50G>C Multiple submitters
c.1708-171C>T Multiple submitters
c.1708-76G>A Multiple submitters
c.1850+87T>A Multiple submitters glycine encephalopathy
c.1927-172C>T Multiple submitters
c.2203-63C>G Multiple submitters glycine encephalopathy
c.2315+80C>G Multiple submitters glycine encephalopathy
c.256-233G>C Multiple submitters
c.256-240G>A Multiple submitters
c.2569+69C>A Multiple submitters glycine encephalopathy
c.2838+108C>G Multiple submitters
c.2838+89C>A Multiple submitters
c.2839-148T>C Multiple submitters
c.2839-201G>A Multiple submitters
c.2839-57A>G Multiple submitters glycine encephalopathy
c.2920-8C>T Multiple submitters glycine encephalopathy
c.470+76C>T Multiple submitters
c.471-107T>C Multiple submitters
c.636-29C>T Multiple submitters
c.636-77A>G Multiple submitters
c.713+204G>T Multiple submitters
c.714-36G>A Multiple submitters
c.861+139C>A Multiple submitters
c.862-111G>T Multiple submitters
c.862-66C>G Multiple submitters
c.*473C>T Multiple submitters glycine encephalopathy
c.*540C>T Multiple submitters glycine encephalopathy
p.Asp222= Multiple submitters glycine encephalopathy
p.Leu220= Multiple submitters glycine encephalopathy
p.Leu462Val Multiple submitters glycine encephalopathy
c.1156-204C>T Single submitter
c.1156-293A>G Single submitter
c.1261+183CTTT[6] Single submitter
c.1261+183CTTT[8] Single submitter
c.1261+183CTTT[9] Single submitter
c.1261+216C>A Single submitter
c.1261+334C>T Single submitter
c.1262-208T>G Single submitter
c.1262-272C>T Single submitter
c.1262-296AT[10] Single submitter
c.1402-294A>C Single submitter
c.1402-299T>C Single submitter
c.1482+281T>C Single submitter
c.1708-222G>A Single submitter
c.1851-268G>A Single submitter
c.2202+19C>T Single submitter glycine encephalopathy
c.2202+303C>G Single submitter
c.2203-298T>C Single submitter
c.2315+111C>T Single submitter
c.2315+289C>T Single submitter
c.2457+314A>G Single submitter
c.2458-300C>G Single submitter
c.256-217A>C Single submitter
c.2569+261C>T Single submitter
c.2569+265T>G Single submitter
c.2569+269T>C Single submitter
c.2569+314A>G Single submitter
c.2570-195A>G Single submitter
c.2838+177A>G Single submitter
c.2838+263T>C Single submitter
c.2839-269G>A Single submitter
c.2919+242C>T Single submitter
c.2919+272T>A Single submitter
c.335-165del Single submitter
c.470+125T>C Single submitter
c.470+177G>A Single submitter
c.470+189G>C Single submitter
c.471-232A>C Single submitter
c.636-12del Single submitter glycine encephalopathy
c.713+262_713+267del Single submitter
c.713+263_713+264dup Single submitter
c.713+263dup Single submitter
c.-186del Single submitter
c.*410G>C Single submitter glycine encephalopathy

Benign/Likely benign 26

c.1261+19T>C Multiple submitters glycine encephalopathy
c.1482+19T>C Multiple submitters glycine encephalopathy
c.1581-5C>T Multiple submitters glycine encephalopathy
c.1707+8G>A Multiple submitters intellectual disability
c.1927-9A>G Multiple submitters glycine encephalopathy
c.2203-19G>A Multiple submitters glycine encephalopathy
c.2316-13_2316-12dup Multiple submitters glycine encephalopathy
c.2316-6del Multiple submitters glycine encephalopathy
c.2316-6dup Multiple submitters glycine encephalopathy
c.2457+8C>T Multiple submitters glycine encephalopathy
c.2919+3A>G Multiple submitters glycine encephalopathy
c.470+11T>C Multiple submitters glycine encephalopathy
c.635+16A>G Multiple submitters glycine encephalopathy
c.861+10C>T Multiple submitters glycine encephalopathy
c.*7G>C Multiple submitters glycine encephalopathy
p.Ala569Thr Multiple submitters glycine encephalopathy
p.Ala794Thr Multiple submitters glycine encephalopathy
p.Arg224His Multiple submitters glycine encephalopathy ⚠
p.Asp74= Multiple submitters glycine encephalopathy
p.Cys291Gly Multiple submitters glycine encephalopathy ⚠
p.Glu167= Multiple submitters glycine encephalopathy
p.Glu503Ala Multiple submitters glycine encephalopathy
p.His226= Multiple submitters glycine encephalopathy
p.Ile312= Multiple submitters glycine encephalopathy
p.Leu605= Multiple submitters glycine encephalopathy
p.Val735Leu Multiple submitters glycine encephalopathy

Likely benign 1017

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

c.1155+91C>T Multiple submitters glycine encephalopathy
c.1262-4G>A Multiple submitters glycine encephalopathy
c.1401+9A>G Multiple submitters glycine encephalopathy
c.1402-62G>T Multiple submitters
c.1483-6C>T Multiple submitters glycine encephalopathy
c.1483-85G>A Multiple submitters
c.1707+109G>T Multiple submitters
c.1707+174G>A Multiple submitters
c.2202+16G>A Multiple submitters glycine encephalopathy
c.2202+20G>A Multiple submitters glycine encephalopathy
c.2203-12C>T Multiple submitters glycine encephalopathy
c.2316-10A>C Multiple submitters glycine encephalopathy
c.2316-13A>C Multiple submitters glycine encephalopathy
c.2457+14G>C Multiple submitters glycine encephalopathy
c.2458-11C>T Multiple submitters glycine encephalopathy
c.255+18G>A Multiple submitters glycine encephalopathy
c.2570-22C>G Multiple submitters
c.2666-134C>G Multiple submitters
c.2666-156A>G Multiple submitters
c.2839-15G>A Multiple submitters glycine encephalopathy
c.2920-169G>A Multiple submitters
c.471-127G>C Multiple submitters
c.635+8G>C Multiple submitters glycine encephalopathy
c.636-21T>A Multiple submitters
c.713+17G>A Multiple submitters glycine encephalopathy
c.714-15_714-13del Multiple submitters glycine encephalopathy
c.*257G>A Multiple submitters glycine encephalopathy
p.Ala192= Multiple submitters glycine encephalopathy
p.Ala855= Multiple submitters glycine encephalopathy
p.Ala931= Multiple submitters glycine encephalopathy
p.Arg452= Multiple submitters glycine encephalopathy
p.Arg76= Multiple submitters glycine encephalopathy
p.Asn214= Multiple submitters glycine encephalopathy
p.Asn691= Multiple submitters glycine encephalopathy
p.Asn751= Multiple submitters glycine encephalopathy
p.Asp432= Multiple submitters glycine encephalopathy
p.Asp482= Multiple submitters glycine encephalopathy
p.Asp712= Multiple submitters glycine encephalopathy
p.Asp727= Multiple submitters glycine encephalopathy
p.Cys300= Multiple submitters glycine encephalopathy
p.Cys444Tyr Multiple submitters glycine encephalopathy
p.Cys644= Multiple submitters glycine encephalopathy
p.Glu338= Multiple submitters glycine encephalopathy
p.Gly15= Multiple submitters glycine encephalopathy
p.Gly590= Multiple submitters glycine encephalopathy
p.His760= Multiple submitters glycine encephalopathy
p.His891= Multiple submitters glycine encephalopathy
p.Ile381= Multiple submitters glycine encephalopathy
p.Ile770= Multiple submitters glycine encephalopathy
p.Ile87= Multiple submitters glycine encephalopathy
p.Leu196= Multiple submitters glycine encephalopathy
p.Leu22= Multiple submitters glycine encephalopathy
p.Leu387= Multiple submitters glycine encephalopathy
p.Leu568= Multiple submitters glycine encephalopathy
p.Lys600= Multiple submitters glycine encephalopathy
p.Lys636= Multiple submitters glycine encephalopathy
p.Phe743= Multiple submitters glycine encephalopathy
p.Pro104= Multiple submitters glycine encephalopathy
p.Pro223Arg Multiple submitters glycine encephalopathy 1
p.Pro345= Multiple submitters glycine encephalopathy
p.Pro584= Multiple submitters glycine encephalopathy
p.Pro70= Multiple submitters glycine encephalopathy
p.Pro759= Multiple submitters glycine encephalopathy
p.Pro944= Multiple submitters glycine encephalopathy
p.Ser125= Multiple submitters glycine encephalopathy
p.Ser617= Multiple submitters glycine encephalopathy
p.Ser748= Multiple submitters glycine encephalopathy
p.Ser86= Multiple submitters glycine encephalopathy
p.Ser910= Multiple submitters glycine encephalopathy
p.Thr119= Multiple submitters glycine encephalopathy
p.Thr269= Multiple submitters glycine encephalopathy
p.Thr383= Multiple submitters glycine encephalopathy
p.Tyr699= Multiple submitters glycine encephalopathy
p.Tyr725= Multiple submitters glycine encephalopathy
c.1058+10C>G Single submitter glycine encephalopathy
c.1058+10del Single submitter glycine encephalopathy
c.1058+12C>A Single submitter glycine encephalopathy
c.1058+12C>T Single submitter glycine encephalopathy
c.1058+13A>G Single submitter glycine encephalopathy
c.1058+16T>C Single submitter glycine encephalopathy
c.1058+17T>C Single submitter glycine encephalopathy
c.1058+19C>G Single submitter glycine encephalopathy
c.1058+20T>C Single submitter glycine encephalopathy
c.1058+38A>G Single submitter
c.1058+7G>A Single submitter glycine encephalopathy
c.1058+8G>A Single submitter glycine encephalopathy
c.1058+9G>A Single submitter glycine encephalopathy
c.1058+9G>C Single submitter glycine encephalopathy
c.1059-13A>C Single submitter glycine encephalopathy
c.1059-14T>C Single submitter glycine encephalopathy
c.1059-16C>T Single submitter glycine encephalopathy
c.1059-189dup Single submitter
c.1059-4G>A Single submitter glycine encephalopathy
c.1059-6del Single submitter glycine encephalopathy
c.1059-6G>A Single submitter glycine encephalopathy
c.1155+11C>T Single submitter glycine encephalopathy
c.1155+12G>A Single submitter glycine encephalopathy
c.1155+12G>T Single submitter glycine encephalopathy
c.1155+14C>G Single submitter glycine encephalopathy
c.1155+16G>A Single submitter glycine encephalopathy
c.1155+16G>C Single submitter glycine encephalopathy
c.1155+17A>G Single submitter glycine encephalopathy
c.1155+18C>T Single submitter glycine encephalopathy
c.1155+7C>T Single submitter glycine encephalopathy
c.1155+8A>C Single submitter glycine encephalopathy
c.1155+9C>G Single submitter glycine encephalopathy
c.1155+9C>T Single submitter glycine encephalopathy
c.1156-10T>C Single submitter glycine encephalopathy
c.1156-14T>C Single submitter glycine encephalopathy
c.1156-17A>G Single submitter glycine encephalopathy
c.1156-17A>T Single submitter glycine encephalopathy
c.1156-20T>C Single submitter glycine encephalopathy
c.1156-266A>C Single submitter
c.1156-4_1156-3del Single submitter glycine encephalopathy
c.1156-4T>G Single submitter glycine encephalopathy
c.1156-7C>A Single submitter glycine encephalopathy
c.1261+12A>G Single submitter glycine encephalopathy
c.1261+13T>C Single submitter glycine encephalopathy
c.1261+14C>G Single submitter glycine encephalopathy
c.1261+16G>A Single submitter glycine encephalopathy
c.1261+17T>G Single submitter glycine encephalopathy
c.1261+9G>T Single submitter glycine encephalopathy
c.1262-11A>C Single submitter glycine encephalopathy
c.1262-11A>G Single submitter glycine encephalopathy
c.1262-12T>C Single submitter glycine encephalopathy
c.1262-13C>T Single submitter glycine encephalopathy
c.1262-15T>C Single submitter glycine encephalopathy
c.1262-16C>A Single submitter glycine encephalopathy
c.1262-16C>T Single submitter glycine encephalopathy
c.1262-17T>A Single submitter glycine encephalopathy
c.1262-17T>C Single submitter glycine encephalopathy
c.1262-19G>C Single submitter glycine encephalopathy
c.1262-19G>T Single submitter glycine encephalopathy
c.1262-20G>A Single submitter glycine encephalopathy
c.1262-296AT[11] Single submitter
c.1262-298_1262-297insA Single submitter
c.1262-299_1262-298insA Single submitter
c.1262-318dup Single submitter
c.1262-33A>G Single submitter
c.1262-4G>T Single submitter glycine encephalopathy
c.1262-7T>C Single submitter glycine encephalopathy
c.1262-8T>C Single submitter glycine encephalopathy
c.1262-9_1262-8insA Single submitter glycine encephalopathy
c.1262-9C>T Single submitter glycine encephalopathy
c.1401+10del Single submitter glycine encephalopathy
c.1401+15C>A Single submitter glycine encephalopathy
c.1401+17G>A Single submitter glycine encephalopathy
c.1401+17G>C Single submitter glycine encephalopathy
c.1401+18T>C Single submitter glycine encephalopathy
c.1401+19A>G Single submitter glycine encephalopathy
c.1401+234A>G Single submitter
c.1401+48_1401+49insC Single submitter
c.1402-10G>A Single submitter glycine encephalopathy
c.1402-12G>C Single submitter glycine encephalopathy
c.1402-14T>A Single submitter glycine encephalopathy
c.1402-16G>T Single submitter glycine encephalopathy
c.1402-7T>A Single submitter glycine encephalopathy
c.1482+11T>C Single submitter glycine encephalopathy
c.1482+13A>G Single submitter glycine encephalopathy
c.1482+18A>C Single submitter glycine encephalopathy
c.1482+18A>G Single submitter glycine encephalopathy
c.1482+20G>A Single submitter glycine encephalopathy
c.1482+282C>T Single submitter
c.1482+283C>T Single submitter
c.1483-13_1483-12del Single submitter glycine encephalopathy
c.1483-13G>A Single submitter glycine encephalopathy
c.1483-16dup Single submitter glycine encephalopathy
c.1483-19C>G Single submitter glycine encephalopathy
c.1483-19C>T Single submitter glycine encephalopathy
c.1483-20T>C Single submitter glycine encephalopathy
c.1483-27C>T Single submitter
c.1483-5T>C Single submitter glycine encephalopathy
c.1483-7C>T Single submitter glycine encephalopathy
c.1483-9C>T Single submitter glycine encephalopathy
c.1580+13T>C Single submitter glycine encephalopathy
c.1580+15T>G Single submitter glycine encephalopathy
c.1580+16G>T Single submitter glycine encephalopathy
c.1580+17T>C Single submitter glycine encephalopathy
c.1580+17T>G Single submitter glycine encephalopathy
c.1580+7G>A Single submitter glycine encephalopathy
c.1580+7G>C Single submitter glycine encephalopathy
c.1580+7G>T Single submitter glycine encephalopathy
c.1580+9G>A Single submitter glycine encephalopathy
c.1581-10G>A Single submitter glycine encephalopathy
c.1581-11T>G Single submitter glycine encephalopathy
c.1581-17G>C Single submitter glycine encephalopathy
c.1581-19C>T Single submitter glycine encephalopathy
c.1581-5C>G Single submitter glycine encephalopathy
c.1581-8G>A Single submitter glycine encephalopathy
c.1665+11G>C Single submitter glycine encephalopathy
c.1665+12T>C Single submitter glycine encephalopathy
c.1665+14G>A Single submitter glycine encephalopathy
c.1665+16C>T Single submitter glycine encephalopathy
c.1665+17T>G Single submitter glycine encephalopathy
c.1665+7A>G Single submitter glycine encephalopathy
c.1665+8T>C Single submitter glycine encephalopathy
c.1666-13G>A Single submitter glycine encephalopathy
c.1666-13G>T Single submitter glycine encephalopathy
c.1666-15A>G Single submitter glycine encephalopathy
c.1666-20T>C Single submitter glycine encephalopathy
c.1666-4A>T Single submitter glycine encephalopathy
c.1666-6T>A Single submitter glycine encephalopathy
c.1666-6T>C Single submitter glycine encephalopathy
c.1666-7C>T Single submitter glycine encephalopathy
c.1666-8T>C Single submitter glycine encephalopathy
c.1707+11C>T Single submitter glycine encephalopathy
c.1707+12A>T Single submitter glycine encephalopathy
c.1707+13C>A Single submitter glycine encephalopathy
c.1707+13C>T Single submitter glycine encephalopathy
c.1707+17T>C Single submitter glycine encephalopathy
c.1707+18G>A Single submitter glycine encephalopathy
c.1708-10T>C Single submitter glycine encephalopathy
c.1708-17G>A Single submitter glycine encephalopathy
c.1708-18T>C Single submitter glycine encephalopathy
c.1708-9T>G Single submitter glycine encephalopathy
c.1850+12del Single submitter glycine encephalopathy
c.1850+13C>T Single submitter glycine encephalopathy
c.1850+14T>C Single submitter glycine encephalopathy
c.1850+17T>C Single submitter glycine encephalopathy
c.1850+17T>G Single submitter glycine encephalopathy
c.1850+18C>G Single submitter glycine encephalopathy
c.1850+7G>A Single submitter glycine encephalopathy
c.1850+8C>T Single submitter glycine encephalopathy
c.1850+9A>G Single submitter glycine encephalopathy
c.1851-14_1851-12del Single submitter glycine encephalopathy
c.1851-14C>T Single submitter glycine encephalopathy
c.1851-14del Single submitter glycine encephalopathy
c.1851-57T>C Single submitter
c.1926+12A>G Single submitter glycine encephalopathy
c.1926+14G>T Single submitter glycine encephalopathy
c.1926+16G>A Single submitter glycine encephalopathy
c.1926+17G>A Single submitter glycine encephalopathy
c.1926+19G>C Single submitter glycine encephalopathy
c.1926+7A>T Single submitter glycine encephalopathy
c.1926+8T>C Single submitter glycine encephalopathy
c.1927-10T>C Single submitter glycine encephalopathy
c.1927-11C>G Single submitter glycine encephalopathy
c.1927-12T>G Single submitter glycine encephalopathy
c.1927-13T>G Single submitter glycine encephalopathy
c.1927-14T>C Single submitter glycine encephalopathy
c.1927-15C>G Single submitter glycine encephalopathy
c.1927-16C>G Single submitter glycine encephalopathy
c.1927-19C>T Single submitter glycine encephalopathy
c.1927-21_1927-17del Single submitter glycine encephalopathy
c.1927-5T>C Single submitter glycine encephalopathy
c.1927-6C>T Single submitter glycine encephalopathy
c.1927-7T>C Single submitter glycine encephalopathy
c.1927-8T>C Single submitter glycine encephalopathy
c.2052+10T>C Single submitter glycine encephalopathy
c.2052+11_2052+13del Single submitter glycine encephalopathy
c.2052+12C>G Single submitter glycine encephalopathy
c.2052+13T>A Single submitter glycine encephalopathy
c.2052+13T>C Single submitter glycine encephalopathy
c.2052+16T>G Single submitter glycine encephalopathy
c.2052+19G>A Single submitter glycine encephalopathy
c.2052+20C>T Single submitter glycine encephalopathy
c.2052+249C>G Single submitter
c.2052+7G>C Single submitter glycine encephalopathy
c.2052+8T>A Single submitter glycine encephalopathy
c.2053-11T>C Single submitter glycine encephalopathy
c.2053-11T>G Single submitter glycine encephalopathy
c.2053-12T>C Single submitter glycine encephalopathy
c.2053-15C>T Single submitter glycine encephalopathy
c.2053-16C>A Single submitter glycine encephalopathy
c.2053-17C>A Single submitter glycine encephalopathy
c.2053-17C>T Single submitter glycine encephalopathy
c.2053-18A>G Single submitter glycine encephalopathy
c.2053-9C>A Single submitter glycine encephalopathy
c.2053-9C>G Single submitter glycine encephalopathy
c.2202+112C>T Single submitter
c.2202+13G>C Single submitter glycine encephalopathy
c.2202+16G>C Single submitter glycine encephalopathy
c.2202+17C>G Single submitter glycine encephalopathy
c.2202+17C>T Single submitter glycine encephalopathy
c.2202+190A>C Single submitter
c.2202+19C>A Single submitter glycine encephalopathy
c.2202+20G>C Single submitter glycine encephalopathy
c.2202+7A>G Single submitter glycine encephalopathy
c.2202+8C>A Single submitter glycine encephalopathy
c.2202+9T>C Single submitter
c.2202+9T>G Single submitter glycine encephalopathy
c.2203-10T>G Single submitter glycine encephalopathy
c.2203-11C>A Single submitter glycine encephalopathy
c.2203-11C>G Single submitter glycine encephalopathy
c.2203-14T>C Single submitter glycine encephalopathy
c.2203-16C>G Single submitter glycine encephalopathy
c.2203-17C>T Single submitter glycine encephalopathy
c.2203-18C>A Single submitter glycine encephalopathy
c.2203-18C>G Single submitter glycine encephalopathy
c.2203-18C>T Single submitter glycine encephalopathy
c.2203-4G>A Single submitter glycine encephalopathy
c.2203-6T>C Single submitter glycine encephalopathy
c.2203-8_2203-6dup Single submitter glycine encephalopathy
c.2315+10G>A Single submitter glycine encephalopathy
c.2315+13C>A Single submitter glycine encephalopathy
c.2315+16C>T Single submitter glycine encephalopathy
c.2315+19G>C Single submitter glycine encephalopathy
c.2315+20T>C Single submitter glycine encephalopathy
c.2315+7T>C Single submitter glycine encephalopathy
c.2315+8C>T Single submitter glycine encephalopathy

Uncertain significance 729

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

c.1261+6T>A Multiple submitters glycine encephalopathy
c.1580+4T>G Multiple submitters glycine encephalopathy
c.1580+5G>C Multiple submitters glycine encephalopathy
c.1850+6G>A Multiple submitters Inborn genetic diseases
c.2052+6T>C Multiple submitters glycine encephalopathy
c.2202+6A>G Multiple submitters Inborn genetic diseases
c.2315+6T>C Multiple submitters glycine encephalopathy
c.255+5G>T Multiple submitters glycine encephalopathy
c.635+3G>C Multiple submitters Inborn genetic diseases
c.861+5G>A Multiple submitters glycine encephalopathy
c.861+5G>C Multiple submitters glycine encephalopathy
c.-31C>A Multiple submitters glycine encephalopathy
c.*115A>T Multiple submitters glycine encephalopathy
p.Ala204Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala290Thr Multiple submitters glycine encephalopathy ⚠
p.Ala290Val Multiple submitters glycine encephalopathy ⚠
p.Ala313Ser Multiple submitters glycine encephalopathy ⚠
p.Ala425Thr Multiple submitters glycine encephalopathy ⚠
p.Ala453Ser Multiple submitters glycine encephalopathy ⚠
p.Ala454Thr Multiple submitters glycine encephalopathy ⚠
p.Ala5Pro Multiple submitters glycine encephalopathy ⚠
p.Ala624Gly Multiple submitters glycine encephalopathy ⚠
p.Ala624Thr Multiple submitters glycine encephalopathy ⚠
p.Ala624Val Multiple submitters glycine encephalopathy ⚠
p.Ala777Thr Multiple submitters glycine encephalopathy ⚠
p.Ala7Val Multiple submitters Inborn genetic diseases ⚠
p.Ala816Thr Multiple submitters glycine encephalopathy ⚠
p.Arg149Gln Multiple submitters glycine encephalopathy ⚠
p.Arg212Lys Multiple submitters glycine encephalopathy 1 ⚠
p.Arg216Gly Multiple submitters glycine encephalopathy ⚠
p.Arg224Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg337Gln Multiple submitters glycine encephalopathy ⚠
p.Arg374Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg456Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg55Gly Multiple submitters glycine encephalopathy ⚠
p.Arg66Lys Multiple submitters glycine encephalopathy
p.Arg790Gln Multiple submitters glycine encephalopathy ⚠
p.Arg843Gln Multiple submitters glycine encephalopathy ⚠
p.Arg849Gly Multiple submitters glycine encephalopathy ⚠
p.Arg937Cys Multiple submitters glycine encephalopathy ⚠
p.Arg937His Multiple submitters glycine encephalopathy ⚠
p.Arg941Thr Multiple submitters glycine encephalopathy ⚠
p.Asn127Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn193Ser Multiple submitters glycine encephalopathy ⚠
p.Asn477Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn526His Multiple submitters glycine encephalopathy ⚠
p.Asn98Asp Multiple submitters glycine encephalopathy ⚠
p.Asn98Lys Multiple submitters glycine encephalopathy ⚠
p.Asp43Tyr Multiple submitters glycine encephalopathy ⚠
p.Asp465Gly Multiple submitters glycine encephalopathy ⚠
p.Asp61Glu Multiple submitters glycine encephalopathy ⚠
p.Asp671Glu Multiple submitters glycine encephalopathy ⚠
p.Asp671His Multiple submitters glycine encephalopathy ⚠
p.Asp793Val Multiple submitters glycine encephalopathy ⚠
p.Cys210Tyr Multiple submitters glycine encephalopathy ⚠
p.Cys4Tyr Multiple submitters glycine encephalopathy ⚠
p.Cys738Ser Multiple submitters glycine encephalopathy 1 ⚠
p.Gln128Arg Multiple submitters glycine encephalopathy ⚠
p.Gln234Glu Multiple submitters glycine encephalopathy ⚠
p.Gln523Glu Multiple submitters glycine encephalopathy ⚠
p.Glu278Lys Multiple submitters glycine encephalopathy ⚠
p.Glu448Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu478Ala Multiple submitters glycine encephalopathy
p.Glu504Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu638Asp Multiple submitters glycine encephalopathy ⚠
p.Glu77Asp Multiple submitters glycine encephalopathy ⚠
p.Glu934Asp Multiple submitters glycine encephalopathy ⚠
p.Gly328Glu Multiple submitters glycine encephalopathy ⚠
p.Gly48Trp Multiple submitters glycine encephalopathy ⚠
p.Gly744Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly83Arg Multiple submitters glycine encephalopathy ⚠
p.Gly857Asp Multiple submitters glycine encephalopathy ⚠
p.Gly860Ser Multiple submitters Inborn genetic diseases
p.His213Asn Multiple submitters glycine encephalopathy ⚠
p.His580Arg Multiple submitters glycine encephalopathy ⚠
p.His959Arg Multiple submitters glycine encephalopathy ⚠
p.Ile147dup Multiple submitters Inborn genetic diseases
p.Ile372Val Multiple submitters glycine encephalopathy ⚠
p.Ile786Val Multiple submitters glycine encephalopathy ⚠
p.Ile834Thr Multiple submitters glycine encephalopathy ⚠
p.Ile989Thr Multiple submitters glycine encephalopathy ⚠
p.Leu105Phe Multiple submitters glycine encephalopathy ⚠
p.Leu176Phe Multiple submitters glycine encephalopathy ⚠
p.Leu176Ser Multiple submitters glycine encephalopathy ⚠
p.Leu296Ile Multiple submitters glycine encephalopathy ⚠
p.Leu365Pro Multiple submitters glycine encephalopathy ⚠
p.Leu387Val Multiple submitters glycine encephalopathy ⚠
p.Leu422Ile Multiple submitters glycine encephalopathy ⚠
p.Leu568Val Multiple submitters glycine encephalopathy ⚠
p.Leu585Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu716His Multiple submitters glycine encephalopathy 1 ⚠
p.Leu865Met Multiple submitters Inborn genetic diseases ⚠
p.Leu90Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu916Val Multiple submitters glycine encephalopathy ⚠
p.Lys1016Asn Multiple submitters glycine encephalopathy ⚠
p.Lys215Glu Multiple submitters glycine encephalopathy ⚠
p.Lys272Gln Multiple submitters ⚠
p.Lys447Met Multiple submitters glycine encephalopathy ⚠
p.Lys842Asn Multiple submitters glycine encephalopathy ⚠
p.Lys871Arg Multiple submitters glycine encephalopathy ⚠
p.Met182Val Multiple submitters glycine encephalopathy ⚠
p.Met660Val Multiple submitters Inborn genetic diseases ⚠
p.Met840Lys Multiple submitters glycine encephalopathy ⚠
p.Met840Val Multiple submitters Inborn genetic diseases ⚠
p.Met923Thr Multiple submitters glycine encephalopathy ⚠
p.Phe264Leu Multiple submitters glycine encephalopathy ⚠
p.Phe276Ser Multiple submitters Inborn genetic diseases ⚠
p.Phe334Leu Multiple submitters glycine encephalopathy 1 ⚠
p.Phe460Val Multiple submitters glycine encephalopathy ⚠
p.Pro1003Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro110Ser Multiple submitters glycine encephalopathy ⚠
p.Pro249Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro249Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro28Leu Multiple submitters glycine encephalopathy ⚠
p.Pro32Ser Multiple submitters glycine encephalopathy ⚠
p.Pro518Leu Multiple submitters glycine encephalopathy 1 ⚠
p.Pro584Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro58Ser Multiple submitters glycine encephalopathy
p.Pro778Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro804Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro944Leu Multiple submitters glycine encephalopathy ⚠
p.Pro96Ser Multiple submitters glycine encephalopathy ⚠
p.Ser37Asn Multiple submitters glycine encephalopathy ⚠
p.Ser3Tyr Multiple submitters glycine encephalopathy ⚠
p.Ser401Phe Multiple submitters glycine encephalopathy ⚠
p.Ser445Pro Multiple submitters glycine encephalopathy ⚠
p.Ser50Leu Multiple submitters glycine encephalopathy ⚠
p.Ser527Arg Multiple submitters glycine encephalopathy ⚠
p.Ser748Leu Multiple submitters glycine encephalopathy ⚠
p.Ser957Pro Multiple submitters glycine encephalopathy ⚠
p.Thr201Ser Multiple submitters glycine encephalopathy ⚠
p.Thr235Ser Multiple submitters glycine encephalopathy ⚠
p.Thr277Met Multiple submitters glycine encephalopathy ⚠
p.Thr356Ser Multiple submitters glycine encephalopathy ⚠
p.Thr367Ile Multiple submitters glycine encephalopathy ⚠
p.Thr475Ile Multiple submitters glycine encephalopathy ⚠
p.Thr516Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr572Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr606Ile Multiple submitters glycine encephalopathy ⚠
p.Thr642Met Multiple submitters glycine encephalopathy ⚠
p.Thr799Ser Multiple submitters glycine encephalopathy ⚠
p.Thr867Met Multiple submitters glycine encephalopathy ⚠
p.Thr985Met Multiple submitters glycine encephalopathy ⚠
p.Tyr993Cys Multiple submitters glycine encephalopathy ⚠
p.Val221Ala Multiple submitters glycine encephalopathy ⚠
p.Val233Ala Multiple submitters Inborn genetic diseases ⚠
p.Val280Met Multiple submitters glycine encephalopathy ⚠
p.Val497Phe Multiple submitters glycine encephalopathy
p.Val611Leu Multiple submitters ⚠
p.Val679Ile Multiple submitters glycine encephalopathy ⚠
p.Val685Leu Multiple submitters Inborn genetic diseases
p.Val713Met Multiple submitters glycine encephalopathy ⚠
p.Val968Ala Multiple submitters Inborn genetic diseases ⚠
p.Val976Met Multiple submitters Inborn genetic diseases ⚠
p.Val999Ile Multiple submitters glycine encephalopathy ⚠
c.1058+144A>G Single submitter glycine encephalopathy
c.1155+3A>G Single submitter
c.1155+5A>G Single submitter
c.1261+3del Single submitter glycine encephalopathy 1
c.1261+3G>A Single submitter glycine encephalopathy
c.1261+5G>A Single submitter glycine encephalopathy
c.1261+5G>C Single submitter GLDC-related disorder
c.1402-3T>G Single submitter glycine encephalopathy
c.1482+6T>C Single submitter glycine encephalopathy
c.1483-3C>G Single submitter glycine encephalopathy
c.1580+5G>T Single submitter glycine encephalopathy
c.1666-39A>G Single submitter glycine encephalopathy
c.1707+5G>C Single submitter glycine encephalopathy
c.1926+3G>T Single submitter glycine encephalopathy
c.1927-1986dup Single submitter glycine encephalopathy 1
c.2052+4C>T Single submitter glycine encephalopathy
c.2202+5G>A Single submitter glycine encephalopathy 1
c.2203-20G>A Single submitter glycine encephalopathy
c.2570-14A>G Single submitter glycine encephalopathy
c.2665+4A>C Single submitter glycine encephalopathy
c.2838+4C>A Single submitter
c.2838+4C>T Single submitter glycine encephalopathy
c.2839-3C>T Single submitter glycine encephalopathy
c.2919+2dup Single submitter glycine encephalopathy
c.2920-1G>C Single submitter glycine encephalopathy
c.470+4A>G Single submitter glycine encephalopathy
c.861+4G>A Single submitter glycine encephalopathy
c.861+84T>G Single submitter glycine encephalopathy 1
c.862-12C>G Single submitter
c.-168G>A Single submitter glycine encephalopathy
c.-173T>G Single submitter glycine encephalopathy
c.-1C>T Single submitter
c.-21C>T Single submitter glycine encephalopathy
c.*188C>T Single submitter glycine encephalopathy
c.*235T>G Single submitter glycine encephalopathy
c.*345G>T Single submitter glycine encephalopathy
c.*378G>T Single submitter glycine encephalopathy
c.*410G>A Single submitter glycine encephalopathy
c.*496T>G Single submitter glycine encephalopathy
c.*505_*506del Single submitter
c.*546C>T Single submitter glycine encephalopathy
p.Ala1018Val Single submitter glycine encephalopathy ⚠
p.Ala118Thr Single submitter glycine encephalopathy ⚠
p.Ala122Val Single submitter glycine encephalopathy ⚠
p.Ala192Gly Single submitter glycine encephalopathy ⚠
p.Ala194Ser Single submitter glycine encephalopathy ⚠
p.Ala194Thr Single submitter glycine encephalopathy ⚠
p.Ala204Leu Single submitter
p.Ala23Thr Single submitter glycine encephalopathy ⚠
p.Ala283Thr Single submitter glycine encephalopathy ⚠
p.Ala313Pro Single submitter glycine encephalopathy ⚠
p.Ala313Thr Single submitter glycine encephalopathy ⚠
p.Ala31Ser Single submitter glycine encephalopathy ⚠
p.Ala331Val Single submitter glycine encephalopathy 1 ⚠
p.Ala355Thr Single submitter glycine encephalopathy ⚠
p.Ala355Val Single submitter glycine encephalopathy ⚠
p.Ala377Pro Single submitter ⚠
p.Ala386Thr Single submitter glycine encephalopathy ⚠
p.Ala408Ser Single submitter glycine encephalopathy ⚠
p.Ala425Val Single submitter glycine encephalopathy
p.Ala47Pro Single submitter glycine encephalopathy ⚠
p.Ala47Thr Single submitter glycine encephalopathy ⚠
p.Ala498Val Single submitter glycine encephalopathy 1
p.Ala49Ser Single submitter glycine encephalopathy ⚠
p.Ala569Pro Single submitter glycine encephalopathy ⚠
p.Ala569Val Single submitter glycine encephalopathy ⚠
p.Ala577Thr Single submitter glycine encephalopathy ⚠
p.Ala588Pro Single submitter glycine encephalopathy ⚠
p.Ala5Ser Single submitter glycine encephalopathy ⚠
p.Ala683Gly Single submitter glycine encephalopathy ⚠
p.Ala683Thr Single submitter glycine encephalopathy ⚠
p.Ala729Gly Single submitter glycine encephalopathy ⚠
p.Ala777Ser Single submitter glycine encephalopathy ⚠
p.Ala794Gly Single submitter glycine encephalopathy ⚠
p.Ala803_Pro804insAla Single submitter glycine encephalopathy 1
p.Ala803Phe Single submitter glycine encephalopathy
p.Ala816Val Single submitter glycine encephalopathy ⚠
p.Ala829Thr Single submitter glycine encephalopathy ⚠
p.Ala837Ser Single submitter glycine encephalopathy ⚠
p.Ala837Val Single submitter ⚠
p.Ala855Thr Single submitter glycine encephalopathy ⚠
p.Ala855Val Single submitter glycine encephalopathy ⚠
p.Ala878Thr Single submitter ⚠
p.Ala878Val Single submitter glycine encephalopathy ⚠
p.Ala892Ser Single submitter glycine encephalopathy ⚠
p.Ala892Thr Single submitter Inborn genetic diseases ⚠
p.Ala892Val Single submitter glycine encephalopathy 1 ⚠
p.Ala931Thr Single submitter ⚠
p.Ala97Thr Single submitter glycine encephalopathy ⚠
p.Ala97Val Single submitter glycine encephalopathy ⚠
p.Arg100His Single submitter glycine encephalopathy ⚠
p.Arg1017Lys Single submitter glycine encephalopathy ⚠
p.Arg1017Met Single submitter glycine encephalopathy ⚠
p.Arg11Cys Single submitter Inborn genetic diseases ⚠
p.Arg11Ser Single submitter glycine encephalopathy ⚠
p.Arg212= Single submitter glycine encephalopathy
p.Arg212Ile Single submitter ⚠
p.Arg216Trp Single submitter glycine encephalopathy ⚠
p.Arg217Met Single submitter glycine encephalopathy ⚠
p.Arg303Trp Single submitter glycine encephalopathy ⚠
p.Arg33Trp Single submitter glycine encephalopathy ⚠
p.Arg353Lys Single submitter glycine encephalopathy ⚠
p.Arg409Ser Single submitter glycine encephalopathy ⚠
p.Arg410Ser Single submitter glycine encephalopathy ⚠
p.Arg424Gln Single submitter glycine encephalopathy ⚠
p.Arg506Thr Single submitter glycine encephalopathy ⚠
p.Arg55His Single submitter glycine encephalopathy ⚠
p.Arg59Lys Single submitter glycine encephalopathy ⚠
p.Arg65Gln Single submitter glycine encephalopathy ⚠
p.Arg65Pro Single submitter glycine encephalopathy ⚠
p.Arg66Thr Single submitter glycine encephalopathy ⚠
p.Arg76Thr Single submitter glycine encephalopathy ⚠
p.Arg856Thr Single submitter glycine encephalopathy ⚠
p.Arg868Thr Single submitter glycine encephalopathy ⚠
p.Arg884Gly Single submitter glycine encephalopathy ⚠
p.Arg918Thr Single submitter Inborn genetic diseases ⚠
p.Arg927Gln Single submitter glycine encephalopathy ⚠
p.Arg927Trp Single submitter glycine encephalopathy ⚠
p.Asn178Lys Single submitter Inborn genetic diseases ⚠
p.Asn178Ser Single submitter glycine encephalopathy ⚠
p.Asn214del Single submitter glycine encephalopathy
p.Asn214Lys Single submitter glycine encephalopathy ⚠
p.Asn413Tyr Single submitter glycine encephalopathy ⚠
p.Asn477Ile Single submitter ⚠
p.Asn526Tyr Single submitter glycine encephalopathy ⚠
p.Asn563Lys Single submitter glycine encephalopathy ⚠
p.Asn578His Single submitter glycine encephalopathy ⚠
p.Asn654Ser Single submitter glycine encephalopathy ⚠
p.Asn703Asp Single submitter Inborn genetic diseases ⚠
p.Asn709Asp Single submitter glycine encephalopathy ⚠
p.Asn709Tyr Single submitter ⚠
p.Asn730Lys Single submitter glycine encephalopathy ⚠
p.Asn782Ser Single submitter glycine encephalopathy ⚠
p.Asn838His Single submitter glycine encephalopathy ⚠
p.Asn875Lys Single submitter glycine encephalopathy ⚠
p.Asp185Gly Single submitter glycine encephalopathy ⚠
p.Asp258Tyr Single submitter glycine encephalopathy ⚠
p.Asp275Glu Single submitter glycine encephalopathy ⚠
p.Asp275Val Single submitter ⚠
p.Asp295Glu Single submitter glycine encephalopathy ⚠
p.Asp311Asn Single submitter glycine encephalopathy ⚠
p.Asp311Gly Single submitter ⚠
p.Asp36Gly Single submitter glycine encephalopathy ⚠
p.Asp36His Single submitter glycine encephalopathy ⚠
p.Asp375Asn Single submitter glycine encephalopathy ⚠