"Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg"[subm - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 337993	NM_001042472.3(ABHD12):c.769C>T (p.Arg257Trp)	ABHD12 (R257W)	Single nucleotide variant (missense variant)	PHARC syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3249591	NM_001042472.3(ABHD12):c.625G>C (p.Gly209Arg)	ABHD12, LOC126863008 (G209R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 337997	NM_001042472.3(ABHD12):c.203T>C (p.Val68Ala)	ABHD12 (V68A)	Single nucleotide variant (missense variant)	PHARC syndrome +1 more	GUncertain significance
Select item 1226455	NM_001042472.3(ABHD12):c.103C>T (p.Arg35Cys)	ABHD12, LOC130065586 (R35C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1448947	NM_001042472.3(ABHD12):c.94G>T (p.Ala32Ser)	ABHD12, LOC130065586 (A32S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1497185	NM_001042472.3(ABHD12):c.62C>T (p.Ser21Phe)	ABHD12, LOC130065586 (S21F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar