Related gene-specific medical variations for Gene (Select 94160) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3127779	NM_001393797.1(ABCC12):c.2950C>T (p.Arg984Trp)	ABCC12, LOC130058951 (R984W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646496	NM_001393797.1(ABCC12):c.2979C>T (p.Ser993=)	ABCC12, LOC130058951	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 443226	GRCh37/hg19 16q12.1(chr16:47942336-48174332)x1	ABCC12	Copy number loss	See cases	GUncertain significance

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