C12orf42[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2245305	NM_198521.5(C12orf42):c.587C>A (p.Thr196Lys)	C12orf42 (T157K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3135666	NM_198521.5(C12orf42):c.106A>C (p.Ser36Arg)	C12orf42 (S36R)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2212785	NM_198521.5(C12orf42):c.101T>A (p.Ile34Asn)	C12orf42 (I34N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 563898	GRCh37/hg19 12q23.3(chr12:103838195-103915092)x1	C12orf42	Copy number loss	not provided	GUncertain significance

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