AGPAT2 — 284 ClinVar variants
All ClinVar germline AGPAT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 104 flagged for review →
19 Pathogenic · 7 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 23 Conflicting · 16 Benign · 11 Benign/Likely benign · 58 Likely benign · 139 Uncertain significance
Full AGPAT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 104
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
AGPAT2 p.Met105Val
Pathogenic
No assertion criteria
congenital generalized lipodystrophy
Predictors agree, ClinVar conflicts 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
AGPAT2 p.Ala268Val
Conflicting
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Arg114Cys
Conflicting
Single submitter
monogenic diabetes
-
AGPAT2 p.Arg250Gln
Conflicting
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Arg90His
Conflicting
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Glu79Lys
Conflicting
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Gly64Ser
Conflicting
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Leu244Pro
Conflicting
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Lys214Glu
Conflicting
Single submitter
monogenic diabetes
Predictors lean, ClinVar uncertain 68
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
AGPAT2 p.Ala154Asp
Uncertain significance
Multiple submitters
monogenic diabetes
-
AGPAT2 p.Ala35Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGPAT2 p.Arg121Gly
Uncertain significance
Multiple submitters
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Arg159Leu
Uncertain significance
Multiple submitters
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Arg51Cys
Uncertain significance
Multiple submitters
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Arg90Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGPAT2 p.Gly75Arg
Uncertain significance
Multiple submitters
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Leu11Arg
Uncertain significance
Multiple submitters
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Met108Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGPAT2 p.Phe139Val
Uncertain significance
Multiple submitters
congenital generalized lipodystrophy type 1
- AGPAT2 p.Pro276Leu Uncertain significance Multiple submitters
-
AGPAT2 p.Thr254Asn
Uncertain significance
Multiple submitters
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Val152Ala
Uncertain significance
Multiple submitters
monogenic diabetes
-
AGPAT2 p.Val202Met
Uncertain significance
Multiple submitters
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Val241Leu
Uncertain significance
Multiple submitters
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Val274Met
Uncertain significance
Multiple submitters
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Ala10Gly
Uncertain significance
Single submitter
monogenic diabetes
- AGPAT2 p.Ala188Asp Uncertain significance Single submitter
-
AGPAT2 p.Ala238Val
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
- AGPAT2 p.Ala23Val Uncertain significance Single submitter
-
AGPAT2 p.Ala251Thr
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Ala35Val
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Ala89Ser
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Ala8Thr
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Arg143Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Arg143Trp
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Arg145Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Arg145His
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Arg145Ser
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Arg162Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Arg84Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Arg85Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Arg85Lys
Uncertain significance
Single submitter
Lipodystrophy - childhood onset
-
AGPAT2 p.Asn176Asp
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Asn178Asp
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Asn266Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Asn59His
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Asp155Asn
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Cys115Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- AGPAT2 p.Cys6Arg Uncertain significance Single submitter
-
AGPAT2 p.Cys92Arg
Uncertain significance
Single submitter
monogenic diabetes
-
AGPAT2 p.Glu2Lys
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Glu2Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Gly127Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Gly136Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- AGPAT2 p.Ile132Leu Uncertain significance Single submitter
-
AGPAT2 p.Leu11Val
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
- AGPAT2 p.Leu17Arg Uncertain significance Single submitter
-
AGPAT2 p.Lys29Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Met160Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Met252Thr
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Met60Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Phe210Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Pro83Leu
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Ser206Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Ser45Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- AGPAT2 p.Thr151Arg Uncertain significance Single submitter
-
AGPAT2 p.Thr174Ile
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Thr233Ile
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Thr262Ile
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Thr269Asn
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Tyr170Cys
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Val138Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Val200Ile
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Val203Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- AGPAT2 p.Val40Ala Uncertain significance Single submitter
- AGPAT2 p.Lys186Thr Uncertain significance No assertion criteria
-
AGPAT2 p.Thr233Asn
Uncertain significance
No assertion criteria
congenital generalized lipodystrophy type 1
Predictors split 27
The independent predictors disagree with each other — read with care.
-
AGPAT2 p.Arg114His
Uncertain significance
Multiple submitters
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Arg121Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGPAT2 p.Arg250Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGPAT2 p.Arg77Cys
Uncertain significance
Multiple submitters
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Met133Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGPAT2 p.Pro263Leu
Uncertain significance
Multiple submitters
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Thr247Ile
Uncertain significance
Multiple submitters
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Arg121Gln
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Arg162Gly
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Arg55Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Arg77His
Conflicting
Single submitter
monogenic diabetes
- AGPAT2 p.Arg81Trp Uncertain significance Single submitter
-
AGPAT2 p.Arg90Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Asn142Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- AGPAT2 p.Glu122Ala Uncertain significance Single submitter
-
AGPAT2 p.Gly235Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Ile62Ser
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Leu236Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Leu46Pro
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Lys120Arg
Conflicting
Single submitter
monogenic diabetes
-
AGPAT2 p.Lys71Arg
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Met105Ile
Conflicting
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Met160Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPAT2 p.Pro263Arg
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
- AGPAT2 p.Thr254Ile Uncertain significance Single submitter
-
AGPAT2 p.Tyr33Cys
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
-
AGPAT2 p.Val161Phe
Uncertain significance
Single submitter
congenital generalized lipodystrophy type 1
All AGPAT2 variants
Pathogenic 19
- c.589-2A>G Multiple submitters AGPAT2-related disorder
- p.Arg68Ter Multiple submitters congenital generalized lipodystrophy type 1
- p.Leu124fs Multiple submitters congenital generalized lipodystrophy type 1
- p.Asn59fs Single submitter congenital generalized lipodystrophy
- p.Asp180fs Single submitter congenital generalized lipodystrophy type 1
- p.Gly136Arg Single submitter congenital generalized lipodystrophy type 1
- p.Ile94fs Single submitter
- p.Leu13Ter Single submitter congenital generalized lipodystrophy type 1
- p.Ser100Asn Single submitter congenital generalized lipodystrophy type 1
- c.316+1G>T No assertion criteria congenital generalized lipodystrophy type 1
- c.366_588+534del No assertion criteria congenital generalized lipodystrophy type 1
- p.Glu172fs No assertion criteria congenital generalized lipodystrophy type 1
- p.Leu107AlafsTer279 No assertion criteria congenital generalized lipodystrophy type 1
- p.Leu228Pro No assertion criteria congenital generalized lipodystrophy type 1
- p.Lys215Ter No assertion criteria congenital generalized lipodystrophy type 1
- p.Met105Val No assertion criteria congenital generalized lipodystrophy ⚠
- p.Ser208fs No assertion criteria congenital generalized lipodystrophy type 1
- p.Trp168Ter No assertion criteria congenital generalized lipodystrophy type 1
- p.Tyr190Ter No assertion criteria congenital generalized lipodystrophy type 1
Pathogenic/Likely pathogenic 7
- c.492+1G>A Multiple submitters congenital generalized lipodystrophy type 1
- c.493-1G>C Multiple submitters congenital generalized lipodystrophy type 1
- c.662-2A>C Multiple submitters congenital generalized lipodystrophy type 1
- p.Glu172Lys Multiple submitters congenital generalized lipodystrophy type 1
- p.Lys216Ter Multiple submitters congenital generalized lipodystrophy type 1
- p.Pro112fs Multiple submitters congenital generalized lipodystrophy type 1
- p.Pro128fs Multiple submitters congenital generalized lipodystrophy type 1
Likely pathogenic 11
- c.493-2A>G Multiple submitters congenital generalized lipodystrophy type 1
- p.Gln264Ter Multiple submitters congenital generalized lipodystrophy type 1
- p.Thr219fs Multiple submitters AGPAT2-related disorder
- p.Arg81fs Single submitter congenital generalized lipodystrophy type 1
- p.Gln87fs Single submitter congenital generalized lipodystrophy type 1
- p.Glu229Ter Single submitter congenital generalized lipodystrophy type 1
- p.Gly53fs Single submitter congenital generalized lipodystrophy type 1
- p.Leu11fs Single submitter AGPAT2-related disorder
- p.Leu12fs Single submitter congenital generalized lipodystrophy type 1
- p.Leu257fs Single submitter congenital generalized lipodystrophy type 1
- p.Pro112Leu Single submitter congenital generalized lipodystrophy type 1
Conflicting classifications of pathogenicity 23
- c.316+15G>A Single submitter congenital generalized lipodystrophy type 1
- c.492+4_492+7del Single submitter congenital generalized lipodystrophy type 1
- p.Ala268Val Single submitter Inborn genetic diseases ⚠
- p.Arg114Cys Single submitter monogenic diabetes ⚠
- p.Arg250Gln Single submitter Inborn genetic diseases ⚠
- p.Arg77His Single submitter monogenic diabetes ⚠
- p.Arg90His Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Asp240= Single submitter congenital generalized lipodystrophy type 1
- p.Glu79Lys Single submitter Inborn genetic diseases ⚠
- p.Gly64Ser Single submitter Inborn genetic diseases ⚠
- p.Ile94= Single submitter congenital generalized lipodystrophy type 1
- p.Leu244= Single submitter congenital generalized lipodystrophy type 1
- p.Leu244Pro Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Lys120Arg Single submitter monogenic diabetes ⚠
- p.Lys214Glu Single submitter monogenic diabetes ⚠
- p.Lys216Met Single submitter Inborn genetic diseases
- p.Lys261= Single submitter congenital generalized lipodystrophy type 1
- p.Met105Ile Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Phe78= Single submitter congenital generalized lipodystrophy type 1
- p.Thr254= Single submitter congenital generalized lipodystrophy type 1
- p.Val161= Single submitter congenital generalized lipodystrophy type 1
- p.Val18= Single submitter congenital generalized lipodystrophy type 1
- p.Val67Met Single submitter monogenic diabetes
Benign 16
- c.182+99C>G Multiple submitters
- c.183-60G>C Multiple submitters congenital generalized lipodystrophy type 1
- c.317-7C>T Multiple submitters congenital generalized lipodystrophy type 1
- c.661+121T>C Multiple submitters congenital generalized lipodystrophy type 1
- c.-67G>C Multiple submitters congenital generalized lipodystrophy type 1
- c.*157C>T Multiple submitters congenital generalized lipodystrophy type 1
- c.*239G>A Multiple submitters congenital generalized lipodystrophy type 1
- c.*442C>G Multiple submitters congenital generalized lipodystrophy type 1
- c.*517C>T Multiple submitters congenital generalized lipodystrophy type 1
- c.*535C>T Multiple submitters congenital generalized lipodystrophy type 1
- p.Ala270Val Multiple submitters monogenic diabetes
- p.Leu17dup Multiple submitters
- p.Ser234= Multiple submitters congenital generalized lipodystrophy type 1
- c.588+21C>G Single submitter
- c.662-308G>A Single submitter
- c.*212_*217dup Single submitter
Benign/Likely benign 11
- c.182+6G>A Multiple submitters congenital generalized lipodystrophy type 1
- c.182+8C>T Multiple submitters congenital generalized lipodystrophy type 1
- c.493-17C>A Multiple submitters congenital generalized lipodystrophy type 1
- c.662-5C>G Multiple submitters congenital generalized lipodystrophy type 1
- c.*79C>G Multiple submitters congenital generalized lipodystrophy type 1
- p.Ala239Val Multiple submitters congenital generalized lipodystrophy type 1
- p.Arg159Cys Multiple submitters monogenic diabetes
- p.Cys115= Multiple submitters congenital generalized lipodystrophy type 1
- p.Ile63= Multiple submitters congenital generalized lipodystrophy type 1
- p.Pro91= Multiple submitters congenital generalized lipodystrophy type 1
- p.Thr247= Multiple submitters congenital generalized lipodystrophy type 1
Likely benign 58
- c.492+16C>T Multiple submitters
- c.*236C>T Multiple submitters congenital generalized lipodystrophy type 1
- c.*48T>C Multiple submitters congenital generalized lipodystrophy type 1
- p.Ala8= Multiple submitters congenital generalized lipodystrophy type 1
- p.Gln226= Multiple submitters
- p.Gly136= Multiple submitters congenital generalized lipodystrophy type 1
- p.Leu135= Multiple submitters
- p.Leu182= Multiple submitters
- p.Thr262= Multiple submitters
- c.182+15C>T Single submitter
- c.182+18C>T Single submitter
- c.182+20_182+40del Single submitter
- c.183-11C>G Single submitter
- c.316+10G>A Single submitter
- c.316+7C>T Single submitter
- c.317-13C>G Single submitter
- c.317-17_317-12del Single submitter
- c.317-17G>C Single submitter
- c.317-19_317-18del Single submitter
- c.493-17C>T Single submitter
- c.589-16G>A Single submitter
- c.589-17C>T Single submitter
- c.661+10C>A Single submitter
- c.661+11_661+12del Single submitter
- c.661+12_661+19del Single submitter
- c.661+22C>T Single submitter
- c.661+5_661+10dup Single submitter
- c.661+8C>T Single submitter
- c.*102C>T Single submitter congenital generalized lipodystrophy type 1
- c.*10C>T Single submitter
- c.*230C>T Single submitter congenital generalized lipodystrophy type 1
- c.*510C>T Single submitter congenital generalized lipodystrophy type 1
- p.Ala238= Single submitter
- p.Ala239= Single submitter
- p.Ala243= Single submitter
- p.Ala28= Single submitter
- p.Ala89= Single submitter
- p.Arg84His Single submitter Inborn genetic diseases
- p.Asn266= Single submitter
- p.Gln144= Single submitter
- p.Gly137= Single submitter
- p.Gly267= Single submitter
- p.Gly273= Single submitter congenital generalized lipodystrophy type 1
- p.Leu15= Single submitter
- p.Leu16= Single submitter
- p.Leu7= Single submitter
- p.Phe207= Single submitter
- p.Pro112= Single submitter
- p.Pro128= Single submitter
- p.Pro171= Single submitter
- p.Pro276= Single submitter
- p.Pro5= Single submitter
- p.Ser100= Single submitter
- p.Thr56= Single submitter
- p.Val129= Single submitter
- p.Val245Met Single submitter Inborn genetic diseases
- p.Val40= Single submitter
- p.Val95Ile Single submitter Inborn genetic diseases
Uncertain significance 139
- c.-18C>A Multiple submitters congenital generalized lipodystrophy type 1
- c.*354C>T Multiple submitters congenital generalized lipodystrophy type 1
- p.Ala154Asp Multiple submitters monogenic diabetes ⚠
- p.Ala35Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg114His Multiple submitters congenital generalized lipodystrophy type 1 ⚠
- p.Arg121Gly Multiple submitters congenital generalized lipodystrophy type 1 ⚠
- p.Arg121Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg159Leu Multiple submitters congenital generalized lipodystrophy type 1 ⚠
- p.Arg250Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg51Cys Multiple submitters congenital generalized lipodystrophy type 1 ⚠
- p.Arg77Cys Multiple submitters congenital generalized lipodystrophy type 1 ⚠
- p.Arg90Pro Multiple submitters Inborn genetic diseases ⚠
- p.Gly75Arg Multiple submitters congenital generalized lipodystrophy type 1 ⚠
- p.Leu11Arg Multiple submitters congenital generalized lipodystrophy type 1 ⚠
- p.Lys216del Multiple submitters congenital generalized lipodystrophy type 1
- p.Lys216Leu Multiple submitters congenital generalized lipodystrophy type 1
- p.Met108Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met133Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe139Val Multiple submitters congenital generalized lipodystrophy type 1 ⚠
- p.Phe140del Multiple submitters congenital generalized lipodystrophy type 1
- p.Phe70Val Multiple submitters congenital generalized lipodystrophy type 1
- p.Pro263Leu Multiple submitters congenital generalized lipodystrophy type 1 ⚠
- p.Pro276Leu Multiple submitters ⚠
- p.Ser208Phe Multiple submitters Inborn genetic diseases
- p.Thr247Ile Multiple submitters congenital generalized lipodystrophy type 1 ⚠
- p.Thr254Asn Multiple submitters congenital generalized lipodystrophy type 1 ⚠
- p.Val152Ala Multiple submitters monogenic diabetes ⚠
- p.Val202Met Multiple submitters congenital generalized lipodystrophy type 1 ⚠
- p.Val241Leu Multiple submitters congenital generalized lipodystrophy type 1 ⚠
- p.Val274Met Multiple submitters congenital generalized lipodystrophy type 1 ⚠
- c.493-3C>T Single submitter congenital generalized lipodystrophy type 1
- c.493-7C>T Single submitter congenital generalized lipodystrophy type 1
- c.661+5C>T Single submitter
- c.-19T>C Single submitter congenital generalized lipodystrophy type 1
- c.-4G>C Single submitter congenital generalized lipodystrophy type 1
- c.-51GGAGCG[2] Single submitter
- c.-61G>C Single submitter congenital generalized lipodystrophy type 1
- c.-62G>A Single submitter congenital generalized lipodystrophy type 1
- c.-68C>G Single submitter congenital generalized lipodystrophy type 1
- c.*164C>A Single submitter congenital generalized lipodystrophy type 1
- c.*201G>C Single submitter congenital generalized lipodystrophy type 1
- c.*211G>A Single submitter congenital generalized lipodystrophy type 1
- c.*217G>A Single submitter congenital generalized lipodystrophy type 1
- c.*232C>T Single submitter congenital generalized lipodystrophy type 1
- c.*277C>T Single submitter congenital generalized lipodystrophy type 1
- c.*34C>G Single submitter congenital generalized lipodystrophy type 1
- c.*382C>T Single submitter congenital generalized lipodystrophy type 1
- c.*411C>T Single submitter congenital generalized lipodystrophy type 1
- c.*418G>A Single submitter congenital generalized lipodystrophy type 1
- c.*45C>A Single submitter congenital generalized lipodystrophy type 1
- c.*488C>T Single submitter congenital generalized lipodystrophy type 1
- c.*512G>A Single submitter congenital generalized lipodystrophy type 1
- c.*514A>C Single submitter congenital generalized lipodystrophy type 1
- c.*572C>T Single submitter congenital generalized lipodystrophy type 1
- p.205SSF[1] Single submitter congenital generalized lipodystrophy type 1
- p.Ala10Gly Single submitter monogenic diabetes ⚠
- p.Ala188Asp Single submitter ⚠
- p.Ala238Val Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Ala23Val Single submitter ⚠
- p.Ala251Thr Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Ala35Val Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Ala89Ser Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Ala8Thr Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Arg121Gln Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Arg143Gln Single submitter Inborn genetic diseases ⚠
- p.Arg143Trp Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Arg145Cys Single submitter Inborn genetic diseases ⚠
- p.Arg145His Single submitter Inborn genetic diseases ⚠
- p.Arg145Ser Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Arg162Gly Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Arg162Lys Single submitter Inborn genetic diseases ⚠
- p.Arg55Pro Single submitter Inborn genetic diseases ⚠
- p.Arg81Trp Single submitter ⚠
- p.Arg84Cys Single submitter Inborn genetic diseases ⚠
- p.Arg85Gly Single submitter Inborn genetic diseases ⚠
- p.Arg85Lys Single submitter Lipodystrophy - childhood onset ⚠
- p.Arg90Leu Single submitter Inborn genetic diseases ⚠
- p.Asn142Thr Single submitter Inborn genetic diseases ⚠
- p.Asn176Asp Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Asn178Asp Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Asn266Asp Single submitter Inborn genetic diseases ⚠
- p.Asn59His Single submitter Inborn genetic diseases ⚠
- p.Asp155Asn Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Cys115Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys6Arg Single submitter ⚠
- p.Cys92Arg Single submitter monogenic diabetes ⚠
- p.Glu122Ala Single submitter ⚠
- p.Glu2Lys Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Glu2Val Single submitter Inborn genetic diseases ⚠
- p.Gly127Arg Single submitter Inborn genetic diseases ⚠
- p.Gly136Glu Single submitter Inborn genetic diseases ⚠
- p.Gly235Ser Single submitter Inborn genetic diseases ⚠
- p.Gly271= Single submitter congenital generalized lipodystrophy type 1
- p.Ile132Leu Single submitter ⚠
- p.Ile62Ser Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Ile63Thr Single submitter Inborn genetic diseases
- p.Leu11Val Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Leu17= Single submitter congenital generalized lipodystrophy type 1
- p.Leu17Arg Single submitter ⚠
- p.Leu236Phe Single submitter Inborn genetic diseases ⚠
- p.Leu46Pro Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Leu76= Single submitter congenital generalized lipodystrophy type 1
- p.Lys216= Single submitter monogenic diabetes
- p.Lys29Arg Single submitter Inborn genetic diseases ⚠
- p.Lys71Arg Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Met160Ile Single submitter Inborn genetic diseases ⚠
- p.Met160Thr Single submitter Inborn genetic diseases ⚠
- p.Met252Thr Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Met60Arg Single submitter Inborn genetic diseases ⚠
- p.Phe210Ser Single submitter Inborn genetic diseases ⚠
- p.Pro263Arg Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Pro83Leu Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Ser206Phe Single submitter Inborn genetic diseases ⚠
- p.Ser209_Phe210del Single submitter congenital generalized lipodystrophy type 1
- p.Ser209del Single submitter congenital generalized lipodystrophy type 1
- p.Ser260Cys Single submitter Inborn genetic diseases
- p.Ser45Leu Single submitter Inborn genetic diseases ⚠
- p.Ter279Gln Single submitter
- p.Thr151= Single submitter congenital generalized lipodystrophy type 1
- p.Thr151Arg Single submitter ⚠
- p.Thr174Ile Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Thr233Ile Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Thr254Ile Single submitter ⚠
- p.Thr262Ile Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Thr269Asn Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Thr39= Single submitter congenital generalized lipodystrophy type 1
- p.Tyr170Cys Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Tyr33Cys Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Tyr74His Single submitter
- p.Val116Met Single submitter Inborn genetic diseases
- p.Val138Ile Single submitter Inborn genetic diseases ⚠
- p.Val161Phe Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Val200Ile Single submitter congenital generalized lipodystrophy type 1 ⚠
- p.Val203Leu Single submitter Inborn genetic diseases ⚠
- p.Val40Ala Single submitter ⚠
- p.Leu16_Leu17dup No assertion criteria
- p.Lys186Thr No assertion criteria ⚠
- p.Pro83fs No assertion criteria prostate cancer
- p.Thr233Asn No assertion criteria congenital generalized lipodystrophy type 1 ⚠