Total 31 pathogenic variants reported for Triglyceride storage disease with ichthyosis 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_016006.6(ABHD5):c.774-1G>A SNV
Germline		 Chr3:43717670 Pathogenic Triglyceride storage disease with ichthyosis No Assertion Criteria Provided
 CA74393186 rs_908673218

1 SubmittersRCV000005676
NM_016006.6(ABHD5):c.98C>G (p.Ser33Ter) SNV
Germline		 Chr3:43699326 Pathogenic Triglyceride storage disease with ichthyosis No Assertion Criteria Provided
 CA117422 rs_104893675

1 SubmittersRCV000005677
NM_016006.6(ABHD5):c.134-2A>G SNV
Germline		 Chr3:43702213 Pathogenic Triglyceride storage disease with ichthyosis No Assertion Criteria Provided
 CA352344872 rs_1575600969

1 SubmittersRCV000005678
NM_016006.6(ABHD5):c.389A>C (p.Gln130Pro) SNV
Germline		 Chr3:43702470 Pathogenic Triglyceride storage disease with ichthyosis No Assertion Criteria Provided
 CA117424 rs_28939077

1 SubmittersRCV000005679
NM_016006.6(ABHD5):c.778G>A (p.Glu260Lys) SNV
Germline		 Chr3:43717675 Pathogenic Triglyceride storage disease with ichthyosis No Assertion Criteria Provided
 CA117427 rs_28939078

1 SubmittersRCV000005682
NM_016006.6(ABHD5):c.26A>G (p.Asp9Gly) SNV
Germline		 Chr3:43691018 Conflicting classifications of pathogenicity Triglyceride storage disease with ichthyosis
Condition: not provided
ABHD5-related disorder
Inborn genetic diseases
not specified
Sarcoma
Ovarian serous cystadenocarcinoma		 Criteria Provided
Conflicting Classifications
 CA2341219 rs_144420157

10 SubmittersRCV000338649RCV000907603RCV003972456RCV004678689RCV005646929RCV005897676RCV005897677
NM_016006.6(ABHD5):c.662-10T>G SNV
Germline		 Chr3:43714937 Conflicting classifications of pathogenicity Triglyceride storage disease with ichthyosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2341406 rs_372889561

2 SubmittersRCV000369099RCV006462492
NM_016006.6(ABHD5):c.228T>G (p.Thr76=) SNV
Germline		 Chr3:43702309 Conflicting classifications of pathogenicity Triglyceride storage disease with ichthyosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2341304 rs_377718797

2 SubmittersRCV000299035RCV002520122
NM_016006.6(ABHD5):c.430T>C (p.Leu144=) SNV
Germline		 Chr3:43702511 Conflicting classifications of pathogenicity Triglyceride storage disease with ichthyosis
Condition: not provided
ABHD5-related disorder		 Criteria Provided
Conflicting Classifications
 CA2341336 rs_767197048

3 SubmittersRCV000392242RCV000923879RCV003950212
NM_016006.6(ABHD5):c.885C>T (p.Gly295=) SNV
Germline		 Chr3:43717782 Conflicting classifications of pathogenicity Triglyceride storage disease with ichthyosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2341490 rs_746970260

2 SubmittersRCV000310864RCV003430880
NM_016006.6(ABHD5):c.934C>T (p.Arg312Ter) SNV
Germline		 Chr3:43717831 Pathogenic Triglyceride storage disease with ichthyosis Criteria Provided
Single Submitter
 CA2341500 rs_761087968

1 SubmittersRCV000758006
NM_016006.6(ABHD5):c.48-4C>G SNV
Germline		 Chr3:43699272 Conflicting classifications of pathogenicity Condition: not provided
Triglyceride storage disease with ichthyosis		 Criteria Provided
Conflicting Classifications
 CA2341260 rs_183345998

4 SubmittersRCV000925064RCV001148034
NM_016006.6(ABHD5):c.811G>A (p.Gly271Arg) SNV
Germline		 Chr3:43717708 Pathogenic Triglyceride storage disease with ichthyosis Criteria Provided
Single Submitter
 CA352347478 rs_1575607298

1 SubmittersRCV001003425
NM_016006.6(ABHD5):c.11A>C (p.Glu4Ala) SNV
Germline		 Chr3:43691003 Conflicting classifications of pathogenicity Triglyceride storage disease with ichthyosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2341209 rs_138400599

3 SubmittersRCV001148032RCV002070796
NM_016006.6(ABHD5):c.444C>T (p.Ile148=) SNV
Germline		 Chr3:43702525 Conflicting classifications of pathogenicity Triglyceride storage disease with ichthyosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2341340 rs_753853386

2 SubmittersRCV001145294RCV003660856
NM_016006.6(ABHD5):c.961-15C>T SNV
Germline		 Chr3:43718428 Conflicting classifications of pathogenicity Triglyceride storage disease with ichthyosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2341516 rs_375012502

2 SubmittersRCV001145295RCV002557114
NM_016006.6(ABHD5):c.550C>T (p.Arg184Ter) SNV
Germline		 Chr3:43711752 Pathogenic Triglyceride storage disease with ichthyosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2341374 rs_138876970

2 SubmittersRCV001250089RCV003546682
NM_016006.6(ABHD5):c.810T>A (p.Tyr270Ter) SNV
Germline		 Chr3:43717707 Pathogenic Triglyceride storage disease with ichthyosis Criteria Provided
Single Submitter
 CA352347476 rs_2084784131

1 SubmittersRCV001255228
NM_016006.6(ABHD5):c.838C>T (p.Arg280Ter) SNV
Germline		 Chr3:43717735 Pathogenic/Likely pathogenic Triglyceride storage disease with ichthyosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA352347539 rs_370301465

2 SubmittersRCV001780637RCV006467953
NM_016006.6(ABHD5):c.258A>C (p.Gly86=) SNV
Germline		 Chr3:43702339 Conflicting classifications of pathogenicity Condition: not provided
Triglyceride storage disease with ichthyosis		 Criteria Provided
Conflicting Classifications
 CA2341308 rs_537368660

2 SubmittersRCV002151717RCV003138096
NM_016006.6(ABHD5):c.1006G>T (p.Glu336Ter) SNV
Germline		 Chr3:43718488 Pathogenic/Likely pathogenic Condition: not provided
Triglyceride storage disease with ichthyosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2341525 rs_762662276

4 SubmittersRCV002260749RCV002466750
NM_016006.6(ABHD5):c.700C>T (p.Arg234Ter) SNV
Germline		 Chr3:43714985 Pathogenic Condition: not provided
Triglyceride storage disease with ichthyosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA352347215 rs_2528785198

2 SubmittersRCV002651667RCV005870055
NM_016006.6(ABHD5):c.507-1G>A SNV
Germline		 Chr3:43711708 Pathogenic Condition: not provided
Triglyceride storage disease with ichthyosis		 Criteria Provided
Single Submitter
 CA2341366 rs_367740710

2 SubmittersRCV003555052RCV004556874
NM_016006.6(ABHD5):c.889C>T (p.Arg297Ter) SNV
Germline		 Chr3:43717786 Pathogenic Triglyceride storage disease with ichthyosis No Assertion Criteria Provided
 rs_1288452350

1 SubmittersRCV004555713
NM_016006.6(ABHD5):c.345T>A (p.Ser115Arg) SNV
Germline		 Chr3:43702426 Likely pathogenic Triglyceride storage disease with ichthyosis Criteria Provided
Single Submitter

1 SubmittersRCV005235766