"Clinical Genetics, Academic Medical Center"[submitter] AND "ABHD12"[g - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1269367	NM_002862.4(PYGB):c.2313-619T>C	ABHD12, PYGB	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 128254	NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=)	ABHD12	Single nucleotide variant (synonymous variant)	PHARC syndrome +2 more	GBenign
Select item 128255	NM_001042472.3(ABHD12):c.837C>T (p.Arg279=)	ABHD12	Single nucleotide variant (synonymous variant)	PHARC syndrome +2 more	GBenign
Select item 337993	NM_001042472.3(ABHD12):c.769C>T (p.Arg257Trp)	ABHD12 (R257W)	Single nucleotide variant (missense variant)	ABHD12-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1210006	NM_001042472.3(ABHD12):c.337_338del (p.Asp113fs)	ABHD12 (D113fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 337998	NM_001042472.3(ABHD12):c.202G>A (p.Val68Met)	ABHD12 (V68M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1226455	NM_001042472.3(ABHD12):c.103C>T (p.Arg35Cys)	ABHD12, LOC130065586 (R35C)	Single nucleotide variant (missense variant)	ABHD12-related condition +2 more	GConflicting classifications of pathogenicity

ClinVar