Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_006412.4(AGPAT2):c.*572C>T | 10555 | AGPAT2 | Uncertain significance | -1 | RCV001169432; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139567632 | 139567632 | G | A | 9:g.139567632G>A | - | | |
NM_006412.4(AGPAT2):c.*535C>T | 10555 | AGPAT2 | Benign | rs138670030 | RCV000352516; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139567669 | 139567669 | G | A | 9:g.139567669G>A | ClinGen:CA10626913 | | |
NM_006412.4(AGPAT2):c.*517C>T | 10555 | AGPAT2 | Benign | rs10320 | RCV000406791; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139567687 | 139567687 | G | A | 9:g.139567687G>A | ClinGen:CA10633280 | | |
NM_006412.4(AGPAT2):c.*514A>C | 10555 | AGPAT2 | Uncertain significance | rs886063717 | RCV000312862; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139567690 | 139567690 | T | G | 9:g.139567690T>G | ClinGen:CA10633281 | | |
NM_006412.4(AGPAT2):c.*512G>A | 10555 | AGPAT2 | Uncertain significance | rs555467686 | RCV000365074; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139567692 | 139567692 | C | T | 9:g.139567692C>T | ClinGen:CA10633287 | | |
NM_006412.4(AGPAT2):c.*510C>T | 10555 | AGPAT2 | Likely benign | -1 | RCV001166489; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139567694 | 139567694 | G | A | 9:g.139567694G>A | - | | |
NM_006412.4(AGPAT2):c.*488C>T | 10555 | AGPAT2 | Uncertain significance | -1 | RCV001166490; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139567716 | 139567716 | G | A | 9:g.139567716G>A | - | | |
NM_006412.4(AGPAT2):c.*442C>G | 10555 | AGPAT2 | Benign | rs6951 | RCV000272757; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139567762 | 139567762 | G | C | 9:g.139567762G>C | ClinGen:CA10626914 | | |
NM_006412.4(AGPAT2):c.*418G>A | 10555 | AGPAT2 | Uncertain significance | rs886063718 | RCV000306946; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139567786 | 139567786 | C | T | 9:g.139567786C>T | ClinGen:CA10626915 | | |
NM_006412.4(AGPAT2):c.*411C>T | 10555 | AGPAT2 | Uncertain significance | -1 | RCV001167015; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139567793 | 139567793 | G | A | 9:g.139567793G>A | - | | |
NM_006412.4(AGPAT2):c.*382C>T | 10555 | AGPAT2 | Uncertain significance | -1 | RCV001167016; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139567822 | 139567822 | G | A | 9:g.139567822G>A | - | | |
NM_006412.4(AGPAT2):c.*354C>T | 10555 | AGPAT2 | Uncertain significance | rs886063719 | RCV000363906; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139567850 | 139567850 | G | A | 9:g.139567850G>A | ClinGen:CA10633019 | | |
NM_006412.4(AGPAT2):c.*277C>T | 10555 | AGPAT2 | Uncertain significance | -1 | RCV001167017; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139567927 | 139567927 | G | A | 9:g.139567927G>A | - | | |
NM_006412.4(AGPAT2):c.*239G>A | 10555 | AGPAT2 | Benign | rs56310643 | RCV000267311; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139567965 | 139567965 | C | T | 9:g.139567965C>T | ClinGen:CA10626916 | | |
NM_006412.4(AGPAT2):c.*236C>T | 10555 | AGPAT2 | Likely benign | -1 | RCV001167018; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139567968 | 139567968 | G | A | 9:g.139567968G>A | - | | |
NM_006412.4(AGPAT2):c.*232C>T | 10555 | AGPAT2 | Uncertain significance | -1 | RCV001167019; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139567972 | 139567972 | G | A | 9:g.139567972G>A | - | | |
NM_006412.4(AGPAT2):c.*230C>T | 10555 | AGPAT2 | Likely benign | rs190437134 | RCV000324871; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139567974 | 139567974 | G | A | 9:g.139567974G>A | ClinGen:CA10633288 | | |
NM_006412.4(AGPAT2):c.*217G>A | 10555 | AGPAT2 | Uncertain significance | rs886063720 | RCV000266024; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139567987 | 139567987 | C | T | 9:g.139567987C>T | ClinGen:CA10626923 | | |
NM_006412.4(AGPAT2):c.*211G>A | 10555 | AGPAT2 | Uncertain significance | -1 | RCV001168727; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139567993 | 139567993 | C | T | 9:g.139567993C>T | - | | |
NM_006412.4(AGPAT2):c.*201G>C | 10555 | AGPAT2 | Uncertain significance | rs567964604 | RCV000319061; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568003 | 139568003 | C | G | 9:g.139568003C>G | ClinGen:CA10629610 | | |
NM_006412.4(AGPAT2):c.*164C>A | 10555 | AGPAT2 | Uncertain significance | rs777619886 | RCV000375973; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568040 | 139568040 | G | T | 9:g.139568040G>T | ClinGen:CA10633022 | | |
NM_006412.4(AGPAT2):c.*157C>T | 10555 | AGPAT2 | Benign | rs4880119 | RCV000279085; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568047 | 139568047 | G | A | 9:g.139568047G>A | ClinGen:CA10629616 | | |
NM_006412.4(AGPAT2):c.*102C>T | 10555 | AGPAT2 | Likely benign | -1 | RCV001168728; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568102 | 139568102 | G | A | 9:g.139568102G>A | - | | |
NM_006412.4(AGPAT2):c.*79C>G | 10555 | AGPAT2 | Benign | rs112657922 | RCV000336524; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568125 | 139568125 | G | C | 9:g.139568125G>C | ClinGen:CA10633292 | C0221032 Congenital generalized lipodystrophy; | |
NM_006412.4(AGPAT2):c.*48T>C | 10555 | AGPAT2 | Likely benign | -1 | RCV001169497; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568156 | 139568156 | A | G | 9:g.139568156A>G | - | | |
NM_006412.4(AGPAT2):c.*45C>A | 10555 | AGPAT2 | Uncertain significance | rs769602973 | RCV000388892; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568159 | 139568159 | G | T | 9:g.139568159G>T | ClinGen:CA5342788 | C0221032 Congenital generalized lipodystrophy; | |
NM_006412.4(AGPAT2):c.*34C>G | 10555 | AGPAT2 | Uncertain significance | -1 | RCV001169498; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568170 | 139568170 | G | C | 9:g.139568170G>C | - | | |
NM_006412.4(AGPAT2):c.820G>A (p.Val274Met) | 10555 | AGPAT2 | Uncertain significance | rs368902934 | RCV000292158; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568221 | 139568221 | C | T | 9:g.139568221C>T | ClinGen:CA5342803 | C0221032 Congenital generalized lipodystrophy; | |
NM_006412.4(AGPAT2):c.813G>T (p.Gly271=) | 10555 | AGPAT2 | Uncertain significance | -1 | RCV001169499; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568228 | 139568228 | C | A | 9:g.139568228C>A | - | | |
NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val) | 10555 | AGPAT2 | Conflicting interpretations of pathogenicity | rs142417583 | RCV000445394|RCV000965123|RCV001169500; | N | MONDO:MONDO:0015967,MedGen:C3888631, Orphanet:183625|MedGen:CN517202|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568232 | 139568232 | G | A | 9:g.139568232G>A | ClinGen:CA5342808 | C3888631 Monogenic diabetes; | |
NM_006412.4(AGPAT2):c.788C>T (p.Pro263Leu) | 10555 | AGPAT2 | Uncertain significance | -1 | RCV001169501; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568253 | 139568253 | G | A | 9:g.139568253G>A | - | | |
NM_006412.4(AGPAT2):c.786C>T (p.Thr262=) | 10555 | AGPAT2 | Uncertain significance | -1 | RCV001169502; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568255 | 139568255 | G | A | 9:g.139568255G>A | - | | |
NM_006412.4(AGPAT2):c.783G>A (p.Lys261=) | 10555 | AGPAT2 | Uncertain significance | rs761143874 | RCV000349526; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568258 | 139568258 | C | T | 9:g.139568258C>T | ClinGen:CA5342820 | C0221032 Congenital generalized lipodystrophy; | |
NM_006412.4(AGPAT2):c.755_763del (p.Met252_Thr254del) | 10555 | AGPAT2 | Pathogenic | rs1057517656 | RCV000412504; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568278 | 139568286 | GTGGTCCTCA | G | 9:g.139568278_139568286del | ClinGen:CA16042192 | | |
NM_006412.4(AGPAT2):c.762C>T (p.Thr254=) | 10555 | AGPAT2 | Conflicting interpretations of pathogenicity | rs146973799 | RCV000882513|RCV001165475; | N | MedGen:CN517202|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568279 | 139568279 | G | A | 9:g.139568279G>A | - | | |
NM_006412.4(AGPAT2):c.749G>A (p.Arg250Gln) | 10555 | AGPAT2 | Uncertain significance | -1 | RCV001165476; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568292 | 139568292 | C | T | 9:g.139568292C>T | - | | |
NM_006412.4(AGPAT2):c.748C>T (p.Arg250Trp) | 10555 | AGPAT2 | Uncertain significance | rs767338891 | RCV000390096; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568293 | 139568293 | G | A | 9:g.139568293G>A | ClinGen:CA5342830 | C0221032 Congenital generalized lipodystrophy; | |
NM_006412.4(AGPAT2):c.741C>T (p.Thr247=) | 10555 | AGPAT2 | Benign | rs117434864 | RCV000910591|RCV001165477; | N | MedGen:CN517202|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568300 | 139568300 | G | A | 9:g.139568300G>A | - | | |
NM_006412.4(AGPAT2):c.732C>T (p.Leu244=) | 10555 | AGPAT2 | Uncertain significance | rs200288462 | RCV000291123; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568309 | 139568309 | G | A | 9:g.139568309G>A | ClinGen:CA5342834 | C0221032 Congenital generalized lipodystrophy; | |
NM_006412.4(AGPAT2):c.720C>T (p.Asp240=) | 10555 | AGPAT2 | Uncertain significance | rs142207711 | RCV000343775; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568321 | 139568321 | G | A | 9:g.139568321G>A | ClinGen:CA5342842 | C0221032 Congenital generalized lipodystrophy; | |
NM_006412.4(AGPAT2):c.716C>T (p.Ala239Val) | 10555 | AGPAT2 | Benign/Likely benign | rs145975461 | RCV000594308|RCV001165478; | N | MedGen:CN169374|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568325 | 139568325 | G | A | 9:g.139568325G>A | ClinGen:CA5342845 | CN169374 not specified; | |
NM_006412.4(AGPAT2):c.713C>G (p.Ala238Gly) | 10555 | AGPAT2 | Pathogenic | rs200656731 | RCV000412633; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568328 | 139568328 | G | C | 9:g.139568328G>C | ClinGen:CA5342848 | | |
NM_006412.4(AGPAT2):c.702C>T (p.Ser234=) | 10555 | AGPAT2 | Benign | rs116951119 | RCV000116252|RCV001167073; | N | MedGen:CN169374|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568339 | 139568339 | G | A | 9:g.139568339G>A | ClinGen:CA151608 | CN169374 not specified; | |
NM_006412.4(AGPAT2):c.698C>A (p.Thr233Asn) | 10555 | AGPAT2 | Uncertain significance | rs536777709 | RCV000788112; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568343 | 139568343 | G | T | 9:g.139568343G>T | - | | |
NM_006412.4(AGPAT2):c.683T>C (p.Leu228Pro) | 10555 | AGPAT2 | Pathogenic | rs104894100 | RCV000007006; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568358 | 139568358 | A | G | 9:g.139568358A>G | OMIM:603100.0004,ClinGen:CA277946,UniProtKB:O15120#VAR_017327 | C1720862 608594 Congenital generalized lipodystrophy type 1; | |
NM_006412.4(AGPAT2):c.676C>T (p.Gln226Ter) | 10555 | AGPAT2 | Pathogenic | rs1057517655 | RCV000412578; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568365 | 139568365 | G | A | 9:g.139568365G>A | ClinGen:CA16042193 | C1720862 608594 Congenital generalized lipodystrophy type 1; | |
NM_006412.4(AGPAT2):c.662-5C>G | 10555 | AGPAT2 | Likely benign | rs199964729 | RCV000390445; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139568384 | 139568384 | G | C | 9:g.139568384G>C | ClinGen:CA5342859 | | |
NM_006412.4(AGPAT2):c.661+2T>G | 10555 | AGPAT2 | Pathogenic | rs1057517654 | RCV000412521; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139569185 | 139569185 | A | C | 9:g.139569185A>C | ClinGen:CA16042194 | | |
NM_006412.4(AGPAT2):c.647A>T (p.Lys216Met) | 10555 | AGPAT2 | Uncertain significance | -1 | RCV001167074; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139569201 | 139569201 | T | A | 9:g.139569201T>A | - | | |
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter) | 10555 | AGPAT2 | Conflicting interpretations of pathogenicity | rs138994150 | RCV000412630|RCV000880987; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN517202 | 9 | 139569202 | 139569202 | T | A | 9:g.139569202T>A | ClinGen:CA5342894 | | |
NM_006412.4(AGPAT2):c.643A>T (p.Lys215Ter) | 10555 | AGPAT2 | Pathogenic | rs121908925 | RCV000007008; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139569205 | 139569205 | T | A | 9:g.139569205T>A | ClinGen:CA277949,OMIM:603100.0006 | C1720862 608594 Congenital generalized lipodystrophy type 1; | |
NM_006412.4(AGPAT2):c.622_626del (p.Ser208fs) | 10555 | AGPAT2 | Pathogenic | rs1564290079 | RCV000754915; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139569222 | 139569226 | GGAGGA | G | 9:g.139569222_139569226del | - | | |
NM_006412.4(AGPAT2):c.604G>A (p.Val202Met) | 10555 | AGPAT2 | Uncertain significance | rs372408400 | RCV000358360; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139569244 | 139569244 | C | T | 9:g.139569244C>T | ClinGen:CA5342909 | | |
NM_006412.4(AGPAT2):c.589-2A>G | 10555 | AGPAT2 | Pathogenic | rs116807569 | RCV000007004; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139569261 | 139569261 | T | C | 9:g.139569261T>C | OMIM:603100.0002,ClinGen:CA277944 | | |
NM_006412.4(AGPAT2):c.366_588+534del | 10555 | AGPAT2 | Pathogenic | -1 | RCV000007011; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139570503 | 139571539 | ACCCTGGCCTCTCCCAGACACCCTAGGATGCACTGCACCCCTGGAGGCTGGGGACCAGGAAGTCCAGAGTCTGGAGGCGCTGCTTACAATGAGCTCCACCCACCCTGAGC | A | 9:g.139570503_139570601del | dbVar:nssv3761633,OMIM:603100.0009,ClinGen:CA277954 | C1720862 608594 Congenital generalized lipodystrophy type 1; | |
NM_006412.4(AGPAT2):c.570C>A (p.Tyr190Ter) | 10555 | AGPAT2 | Pathogenic | rs121908926 | RCV000007010; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571055 | 139571055 | G | T | 9:g.139571055G>T | ClinGen:CA277952,OMIM:603100.0008 | C1720862 608594 Congenital generalized lipodystrophy type 1; | |
NM_006412.4(AGPAT2):c.538del (p.Asp180fs) | 10555 | AGPAT2 | Pathogenic | rs1057517653 | RCV000412491; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571087 | 139571087 | TC | T | 9:g.139571087_139571087del | ClinGen:CA16042195 | | |
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys) | 10555 | AGPAT2 | Likely pathogenic | rs748157664 | RCV000412645|RCV000494007; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN517202 | 9 | 139571111 | 139571111 | C | T | 9:g.139571111C>T | ClinGen:CA5342949 | | |
NM_006412.4(AGPAT2):c.513del (p.Glu172fs) | 10555 | AGPAT2 | Pathogenic | rs1564290914 | RCV000754914; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571112 | 139571112 | CG | C | 9:g.139571112_139571112del | - | | |
NM_006412.4(AGPAT2):c.503G>A (p.Trp168Ter) | 10555 | AGPAT2 | Pathogenic | rs1057518714 | RCV000414972; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571122 | 139571122 | C | T | 9:g.139571122C>T | ClinGen:CA16043672 | | |
NM_006412.4(AGPAT2):c.493-1G>C | 10555 | AGPAT2 | Pathogenic | rs606231168 | RCV000007009; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571133 | 139571133 | C | G | 9:g.139571133C>G | ClinGen:CA277951,OMIM:603100.0007 | | |
NM_006412.4(AGPAT2):c.493-7C>T | 10555 | AGPAT2 | Uncertain significance | -1 | RCV001167075; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571139 | 139571139 | G | A | 9:g.139571139G>A | - | | |
NM_006412.4(AGPAT2):c.492+4_492+7del | 10555 | AGPAT2 | Uncertain significance | rs1057518715 | RCV000414842; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571406 | 139571409 | ACACT | A | 9:g.139571406_139571409del | ClinGen:CA16043673 | C1720862 608594 Congenital generalized lipodystrophy type 1; | |
NM_006412.4(AGPAT2):c.492+1G>A | 10555 | AGPAT2 | Pathogenic | rs933422777 | RCV000412609; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571412 | 139571412 | C | T | 9:g.139571412C>T | ClinGen:CA16042196 | | |
NM_006412.4(AGPAT2):c.483C>T (p.Val161=) | 10555 | AGPAT2 | Uncertain significance | rs370441324 | RCV000304647; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571422 | 139571422 | G | A | 9:g.139571422G>A | ClinGen:CA5342991 | | |
NM_006412.4(AGPAT2):c.476G>T (p.Arg159Leu) | 10555 | AGPAT2 | Uncertain significance | rs374919945 | RCV000354825; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571429 | 139571429 | C | A | 9:g.139571429C>A | ClinGen:CA5342995 | | |
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys) | 10555 | AGPAT2 | Benign | rs142993240 | RCV000193694|RCV000445508|RCV000883942|RCV001167076; | N | MedGen:CN169374|MONDO:MONDO:0015967,MedGen:C3888631, Orphanet:183625|MedGen:CN517202|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571430 | 139571430 | G | A | 9:g.139571430G>A | ClinGen:CA207355 | | |
NM_006412.4(AGPAT2):c.453A>G (p.Thr151=) | 10555 | AGPAT2 | Uncertain significance | rs886063721 | RCV000259829; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571452 | 139571452 | T | C | 9:g.139571452T>C | ClinGen:CA10633295 | | |
NM_006412.4(AGPAT2):c.415_417TTC[1] (p.Phe140del) | 10555 | AGPAT2 | Pathogenic | rs387906356 | RCV000007007; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571485 | 139571487 | TGAA | T | 9:g.139571485_139571487del | ClinGen:CA277947,OMIM:603100.0005 | C1720862 608594 Congenital generalized lipodystrophy type 1; | |
NM_006412.4(AGPAT2):c.415T>G (p.Phe139Val) | 10555 | AGPAT2 | Uncertain significance | -1 | RCV001167653; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571490 | 139571490 | A | C | 9:g.139571490A>C | - | | |
NM_006412.4(AGPAT2):c.406G>A (p.Gly136Arg) | 10555 | AGPAT2 | Pathogenic | rs797045222 | RCV000193026; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571499 | 139571499 | C | T | 9:g.139571499C>T | ClinGen:CA278000,UniProtKB:O15120#VAR_017328 | | |
NM_006412.4(AGPAT2):c.397A>G (p.Met133Val) | 10555 | AGPAT2 | Uncertain significance | -1 | RCV001167654; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571508 | 139571508 | T | C | 9:g.139571508T>C | - | | |
NM_006412.4(AGPAT2):c.377dup (p.Pro128fs) | 10555 | AGPAT2 | Pathogenic | rs387906355 | RCV000007005; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571527 | 139571528 | C | CA | 9:g.139571527_139571528insA | ClinGen:CA277945,OMIM:603100.0003 | C1720862 608594 Congenital generalized lipodystrophy type 1; | |
NM_006412.4(AGPAT2):c.361C>G (p.Arg121Gly) | 10555 | AGPAT2 | Uncertain significance | -1 | RCV001167655; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571544 | 139571544 | G | C | 9:g.139571544G>C | - | | |
NM_006412.4(AGPAT2):c.345C>T (p.Cys115=) | 10555 | AGPAT2 | Benign/Likely benign | rs73668354 | RCV000244821|RCV000319659|RCV000967144; | N | MedGen:CN169374|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN517202 | 9 | 139571560 | 139571560 | G | A | 9:g.139571560G>A | ClinGen:CA5343040 | C0221032 Congenital generalized lipodystrophy; | |
NM_006412.4(AGPAT2):c.335C>T (p.Pro112Leu) | 10555 | AGPAT2 | Uncertain significance | rs886063722 | RCV000412550; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571570 | 139571570 | G | A | 9:g.139571570G>A | ClinGen:CA10633299 | | |
NM_006412.4(AGPAT2):c.335del (p.Pro112fs) | 10555 | AGPAT2 | Likely pathogenic | rs1588263957 | RCV000985088; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571570 | 139571570 | CG | C | 9:g.139571570_139571570del | - | | |
NM_006412.4(AGPAT2):c.317-7C>T | 10555 | AGPAT2 | Benign | rs74584184 | RCV000116250|RCV000275200|RCV000947220; | N | MedGen:CN169374|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN517202 | 9 | 139571595 | 139571595 | G | A | 9:g.139571595G>A | ClinGen:CA151607 | C0221032 Congenital generalized lipodystrophy; | |
NM_006412.4(AGPAT2):c.316+15G>A | 10555 | AGPAT2 | Uncertain significance | rs531012485 | RCV000330045; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571860 | 139571860 | C | T | 9:g.139571860C>T | ClinGen:CA5343078 | | |
NM_006412.4(AGPAT2):c.315G>T (p.Met105Ile) | 10555 | AGPAT2 | Conflicting interpretations of pathogenicity | rs746809573 | RCV000389300|RCV000418715; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN517202 | 9 | 139571876 | 139571876 | C | A | 9:g.139571876C>A | ClinGen:CA5343082 | | |
NM_006412.4(AGPAT2):c.299G>A (p.Ser100Asn) | 10555 | AGPAT2 | Pathogenic | rs764260414 | RCV000412496; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571892 | 139571892 | C | T | 9:g.139571892C>T | ClinGen:CA5343086 | | |
NM_006412.4(AGPAT2):c.282C>T (p.Ile94=) | 10555 | AGPAT2 | Uncertain significance | -1 | RCV001169546; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571909 | 139571909 | G | A | 9:g.139571909G>A | - | | |
NM_006412.4(AGPAT2):c.269G>A (p.Arg90His) | 10555 | AGPAT2 | Uncertain significance | rs142176861 | RCV000277912|RCV001169547; | N | MedGen:CN517202|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571922 | 139571922 | C | T | 9:g.139571922C>T | ClinGen:CA5343091 | CN169374 not specified; | |
NM_006412.4(AGPAT2):c.234C>T (p.Phe78=) | 10555 | AGPAT2 | Uncertain significance | rs543374987 | RCV000294844; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571957 | 139571957 | G | A | 9:g.139571957G>A | ClinGen:CA5343100 | | |
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter) | 10555 | AGPAT2 | Pathogenic | rs104894093 | RCV000007003; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571989 | 139571989 | G | A | 9:g.139571989G>A | ClinGen:CA277942,OMIM:603100.0001 | C1720862 608594 Congenital generalized lipodystrophy type 1; | |
NM_006412.4(AGPAT2):c.199G>A (p.Val67Met) | 10555 | AGPAT2 | Conflicting interpretations of pathogenicity | rs563539429 | RCV000445545|RCV001169548; | N | MONDO:MONDO:0015967,MedGen:C3888631, Orphanet:183625|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571992 | 139571992 | C | T | 9:g.139571992C>T | ClinGen:CA5343113 | C3888631 Monogenic diabetes; | |
NM_006412.4(AGPAT2):c.194G>A (p.Trp65Ter) | 10555 | AGPAT2 | Pathogenic | rs1057517651 | RCV000412547; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139571997 | 139571997 | C | T | 9:g.139571997C>T | ClinGen:CA16042197 | | |
NM_006412.4(AGPAT2):c.189C>T (p.Ile63=) | 10555 | AGPAT2 | Benign/Likely benign | rs150180733 | RCV000326364|RCV000909739; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN517202 | 9 | 139572002 | 139572002 | G | A | 9:g.139572002G>A | ClinGen:CA5343118 | | |
NM_006412.4(AGPAT2):c.183-2A>G | 10555 | AGPAT2 | Pathogenic | rs1057517649 | RCV000412588; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139572010 | 139572010 | T | C | 9:g.139572010T>C | ClinGen:CA16042198 | | |
NM_006412.4(AGPAT2):c.182+8C>T | 10555 | AGPAT2 | Benign/Likely benign | rs199860398 | RCV000381250|RCV000882452; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN517202 | 9 | 139581620 | 139581620 | G | A | 9:g.139581620G>A | ClinGen:CA5343148 | | |
NM_006412.4(AGPAT2):c.182+6G>A | 10555 | AGPAT2 | Benign/Likely benign | rs373540283 | RCV000291539|RCV000885393; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN517202 | 9 | 139581622 | 139581622 | C | T | 9:g.139581622C>T | ClinGen:CA5343149 | | |
NM_006412.4(AGPAT2):c.182+1G>A | 10555 | AGPAT2 | Pathogenic | rs1057517650 | RCV000412655; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139581627 | 139581627 | C | T | 9:g.139581627C>T | ClinGen:CA16042199 | | |
NM_006412.4(AGPAT2):c.54G>A (p.Val18=) | 10555 | AGPAT2 | Uncertain significance | -1 | RCV001169549; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139581756 | 139581756 | C | T | 9:g.139581756C>T | - | | |
NM_006412.4(AGPAT2):c.-4G>C | 10555 | AGPAT2 | Uncertain significance | rs886063724 | RCV000282778; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139581813 | 139581813 | C | G | 9:g.139581813C>G | ClinGen:CA10633063 | | |
NM_006412.4(AGPAT2):c.-18C>A | 10555 | AGPAT2 | Uncertain significance | -1 | RCV001165541; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139581827 | 139581827 | G | T | 9:g.139581827G>T | - | | |
NM_006412.4(AGPAT2):c.-19T>C | 10555 | AGPAT2 | Uncertain significance | -1 | RCV001165542; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139581828 | 139581828 | A | G | 9:g.139581828A>G | - | | |
NM_006412.4(AGPAT2):c.-61G>C | 10555 | AGPAT2 | Uncertain significance | rs886063725 | RCV000398551; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139581870 | 139581870 | C | G | 9:g.139581870C>G | ClinGen:CA10626930 | | |
NM_006412.4(AGPAT2):c.-62G>A | 10555 | AGPAT2 | Uncertain significance | rs566958496 | RCV000298125; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139581871 | 139581871 | C | T | 9:g.139581871C>T | ClinGen:CA10626934 | | |
NM_006412.4(AGPAT2):c.-67G>C | 10555 | AGPAT2 | Benign | rs146341067 | RCV000353053; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139581876 | 139581876 | C | G | 9:g.139581876C>G | ClinGen:CA10626936 | | |
NM_006412.4(AGPAT2):c.-68C>G | 10555 | AGPAT2 | Uncertain significance | rs886063726 | RCV000392835; | N | MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528 | 9 | 139581877 | 139581877 | G | C | 9:g.139581877G>C | ClinGen:CA10629635 | | |