"Revvity Omics, Revvity"[submitter] AND "SNHG31"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2859	NM_173076.3(ABCA12):c.7323del (p.Val2442fs)	ABCA12, SNHG31 (V2124fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1322146	NM_173076.3(ABCA12):c.7105-1G>A	ABCA12, SNHG31	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2690791	NM_173076.3(ABCA12):c.7076A>C (p.His2359Pro)	ABCA12, SNHG31 (H2041P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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