"OMIM"[submitter] AND "ABHD12"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 143235	NM_001042472.3(ABHD12):c.1116C>G (p.His372Gln)	ABHD12 (H372Q)	Single nucleotide variant (missense variant)	PHARC syndrome	GPathogenic
Select item 27	NM_001042472.3(ABHD12):c.1054C>T (p.Arg352Ter)	ABHD12 (R352*)	Single nucleotide variant (nonsense)	PHARC syndrome +1 more	GPathogenic
Select item 26	NM_001042472.3(ABHD12):c.846_852dup (p.His285Ter)	ABHD12 (H285*)	Duplication (nonsense)	PHARC syndrome	GPathogenic
Select item 143237	NM_001042472.3(ABHD12):c.557G>C (p.Arg186Pro)	ABHD12 (R186P)	Single nucleotide variant (missense variant)	PHARC syndrome +1 more	GConflicting classifications of pathogenicity
Select item 143236	NM_001042472.3(ABHD12):c.477G>A (p.Trp159Ter)	ABHD12 (W159*)	Single nucleotide variant (nonsense)	PHARC syndrome	GPathogenic
Select item 24	NM_001042472.3(ABHD12):c.337_338delinsTTT (p.Asp113fs)	ABHD12 (D113fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 25	NM_015600.4(ABHD12):c.-6898_191+7002delinsCC	ABHD12, LOC130065583 +3 more	Indel	PHARC syndrome	GPathogenic

ClinVar