Total 51 pathogenic variants reported for Congenital generalized lipodystrophy type 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter) SNV
Germline		 Chr9:136677537 Pathogenic Congenital generalized lipodystrophy type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA277942 rs_104894093

8 SubmittersRCV000007003RCV001701561
NM_006412.4(AGPAT2):c.589-2A>G SNV
Germline		 Chr9:136674809 Pathogenic Congenital generalized lipodystrophy type 1
Condition: not provided
Congenital generalized lipodystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA277944 rs_116807569

10 SubmittersRCV000007004RCV001579685RCV003488328
NM_006412.4(AGPAT2):c.683T>C (p.Leu228Pro) SNV
Germline		 Chr9:136673906 Pathogenic Congenital generalized lipodystrophy type 1 No Assertion Criteria Provided
 CA277946 rs_104894100

1 SubmittersRCV000007006
NM_006412.4(AGPAT2):c.643A>T (p.Lys215Ter) SNV
Germline		 Chr9:136674753 Pathogenic Congenital generalized lipodystrophy type 1 No Assertion Criteria Provided
 CA277949 rs_121908925

1 SubmittersRCV000007008
NM_006412.4(AGPAT2):c.493-1G>C SNV
Germline		 Chr9:136676681 Pathogenic/Likely pathogenic Congenital generalized lipodystrophy type 1
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA277951 rs_606231168

5 SubmittersRCV000007009RCV005887332
NM_006412.4(AGPAT2):c.570C>A (p.Tyr190Ter) SNV
Germline		 Chr9:136676603 Pathogenic Congenital generalized lipodystrophy type 1 No Assertion Criteria Provided
 CA277952 rs_121908926

1 SubmittersRCV000007010
NM_006412.4(AGPAT2):c.406G>A (p.Gly136Arg) SNV
Germline		 Chr9:136677047 Pathogenic Congenital generalized lipodystrophy type 1 Criteria Provided
Single Submitter
 CA278000 rs_797045222

1 SubmittersRCV000193026
NM_006412.4(AGPAT2):c.269G>A (p.Arg90His) SNV
Germline		 Chr9:136677470 Conflicting classifications of pathogenicity Condition: not provided
Congenital generalized lipodystrophy type 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5343091 rs_142176861

7 SubmittersRCV000277912RCV001169547RCV004021105
NM_006412.4(AGPAT2):c.315G>T (p.Met105Ile) SNV
Germline		 Chr9:136677424 Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5343082 rs_746809573

3 SubmittersRCV000389300RCV000418715
NM_006412.4(AGPAT2):c.783G>A (p.Lys261=) SNV
Germline		 Chr9:136673806 Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5342820 rs_761143874

2 SubmittersRCV000349526RCV005055942
NM_006412.4(AGPAT2):c.732C>T (p.Leu244=) SNV
Germline		 Chr9:136673857 Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 1
AGPAT2-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5342834 rs_200288462

4 SubmittersRCV000291123RCV003922645RCV002524594
NM_006412.4(AGPAT2):c.720C>T (p.Asp240=) SNV
Germline		 Chr9:136673869 Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 1
AGPAT2-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5342842 rs_142207711

3 SubmittersRCV000343775RCV003957868RCV006462550
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter) SNV
Germline		 Chr9:136674750 Pathogenic/Likely pathogenic Congenital generalized lipodystrophy type 1
Condition: not provided
Malignant tumor of urinary bladder
AGPAT2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5342894 rs_138994150

8 SubmittersRCV000412630RCV000880987RCV005900522RCV004751505
NM_006412.4(AGPAT2):c.335C>T (p.Pro112Leu) SNV
Germline		 Chr9:136677118 Likely pathogenic Congenital generalized lipodystrophy type 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA10633299 rs_886063722

2 SubmittersRCV000412550RCV004719805
NM_006412.4(AGPAT2):c.316+15G>A SNV
Germline		 Chr9:136677408 Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5343078 rs_531012485

2 SubmittersRCV000330045RCV006462551
NM_006412.4(AGPAT2):c.234C>T (p.Phe78=) SNV
Germline		 Chr9:136677505 Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5343100 rs_543374987

2 SubmittersRCV000294844RCV006462552
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys) SNV
Germline		 Chr9:136676659 Pathogenic/Likely pathogenic Congenital generalized lipodystrophy type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5342949 rs_748157664

4 SubmittersRCV000412645RCV000494007
NM_006412.4(AGPAT2):c.492+1G>A SNV
Germline		 Chr9:136676960 Pathogenic/Likely pathogenic Congenital generalized lipodystrophy type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16042196 rs_933422777

3 SubmittersRCV000412609RCV002274023
NM_006412.4(AGPAT2):c.299G>A (p.Ser100Asn) SNV
Germline		 Chr9:136677440 Pathogenic Congenital generalized lipodystrophy type 1 Criteria Provided
Single Submitter
 CA5343086 rs_764260414

2 SubmittersRCV000412496
NM_006412.4(AGPAT2):c.503G>A (p.Trp168Ter) SNV
Germline		 Chr9:136676670 Pathogenic Congenital generalized lipodystrophy type 1 No Assertion Criteria Provided
 CA16043672 rs_1057518714

1 SubmittersRCV000414972
NM_006412.4(AGPAT2):c.640A>G (p.Lys214Glu) SNV
Germline		 Chr9:136674756 Conflicting classifications of pathogenicity Monogenic diabetes
Condition: not provided
Congenital generalized lipodystrophy type 1		 Criteria Provided
Conflicting Classifications
 CA5342897 rs_142248792

4 SubmittersRCV000445463RCV000909273RCV002467799
NM_006412.4(AGPAT2):c.359A>G (p.Lys120Arg) SNV
Germline		 Chr9:136677094 Conflicting classifications of pathogenicity Monogenic diabetes
Congenital generalized lipodystrophy type 1
Condition: not provided
not specified
AGPAT2-related disorder		 Criteria Provided
Conflicting Classifications
 CA5343037 rs_114782902

6 SubmittersRCV000445386RCV002467800RCV003480630RCV003488594RCV003912787
NM_006412.4(AGPAT2):c.340C>T (p.Arg114Cys) SNV
Germline		 Chr9:136677113 Conflicting classifications of pathogenicity Monogenic diabetes
Condition: not provided
Congenital generalized lipodystrophy type 1
AGPAT2-related disorder		 Criteria Provided
Conflicting Classifications
 CA5343042 rs_142145391

5 SubmittersRCV000445461RCV000969569RCV003884538RCV003970249
NM_006412.4(AGPAT2):c.199G>A (p.Val67Met) SNV
Germline		 Chr9:136677540 Conflicting classifications of pathogenicity Monogenic diabetes
Congenital generalized lipodystrophy type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5343113 rs_563539429

6 SubmittersRCV000445545RCV001169548RCV001865409
NM_006412.4(AGPAT2):c.662-2A>C SNV
Germline		 Chr9:136673929 Pathogenic/Likely pathogenic Condition: not provided
Congenital generalized lipodystrophy type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA375577854 rs_1131691791

3 SubmittersRCV000494035RCV002506195
NM_006412.4(AGPAT2):c.762C>T (p.Thr254=) SNV
Germline		 Chr9:136673827 Conflicting classifications of pathogenicity Condition: not provided
Congenital generalized lipodystrophy type 1
AGPAT2-related disorder		 Criteria Provided
Conflicting Classifications
 CA5342825 rs_146973799

4 SubmittersRCV000882513RCV001165475RCV003968006
NM_006412.4(AGPAT2):c.749G>A (p.Arg250Gln) SNV
Germline		 Chr9:136673840 Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5342829 rs_368090654

5 SubmittersRCV001165476RCV002558606RCV005328545
NM_006412.4(AGPAT2):c.647A>T (p.Lys216Met) SNV
Germline		 Chr9:136674749 Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 1
Condition: not provided
Inborn genetic diseases
AGPAT2-related disorder
Malignant tumor of esophagus
Hepatocellular carcinoma		 Criteria Provided
Conflicting Classifications
 CA5342893 rs_143244920

5 SubmittersRCV001167074RCV001397951RCV002557435RCV003945892RCV005908857RCV005908856
NM_006412.4(AGPAT2):c.282C>T (p.Ile94=) SNV
Germline		 Chr9:136677457 Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5343088 rs_762040181

2 SubmittersRCV001169546RCV005093715
NM_006412.4(AGPAT2):c.54G>A (p.Val18=) SNV
Germline		 Chr9:136687304 Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5343177 rs_140553479

2 SubmittersRCV001169549RCV006465527
NM_006412.4(AGPAT2):c.230G>A (p.Arg77His) SNV
Germline		 Chr9:136677509 Conflicting classifications of pathogenicity Monogenic diabetes
Congenital generalized lipodystrophy type 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5343102 rs_375796317

4 SubmittersRCV001174397RCV002497607RCV002558770RCV004032976
NM_006412.4(AGPAT2):c.685G>T (p.Glu229Ter) SNV
Germline		 Chr9:136673904 Likely pathogenic Congenital generalized lipodystrophy type 1 Criteria Provided
Single Submitter
 CA375577678 rs_1255380257

2 SubmittersRCV001706773
NM_006412.4(AGPAT2):c.190G>A (p.Gly64Ser) SNV
Germline		 Chr9:136677549 Conflicting classifications of pathogenicity not specified
Congenital generalized lipodystrophy type 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5343117 rs_552941425

4 SubmittersRCV001820383RCV002482364RCV002542617RCV005330920
NM_006412.4(AGPAT2):c.38T>A (p.Leu13Ter) SNV
Germline		 Chr9:136687320 Pathogenic Congenital generalized lipodystrophy type 1 Criteria Provided
Single Submitter
 CA375588395 rs_2131023956

1 SubmittersRCV002251240
NM_006412.4(AGPAT2):c.493-2A>G SNV
Germline		 Chr9:136676682 Likely pathogenic Congenital generalized lipodystrophy type 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA5342955 rs_763254660

2 SubmittersRCV002470445
NM_006412.4(AGPAT2):c.316+1G>T SNV
Germline		 Chr9:136677422 Pathogenic Congenital generalized lipodystrophy type 1 No Assertion Criteria Provided
 CA375583213 rs_2490701344

1 SubmittersRCV003237332
NM_006412.4(AGPAT2):c.803C>T (p.Ala268Val) SNV
Germline		 Chr9:136673786 Conflicting classifications of pathogenicity Inborn genetic diseases
Congenital generalized lipodystrophy type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5342809 rs_528513856

3 SubmittersRCV003349754RCV005047550RCV006472487
NM_006412.4(AGPAT2):c.235G>A (p.Glu79Lys) SNV
Germline		 Chr9:136677504 Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 1
Ovarian serous cystadenocarcinoma
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV005046104RCV005937664RCV005836721