C12orf43[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 2239881	NM_022895.3(C12orf43):c.398G>T (p.Arg133Leu)	C12orf43 (R122L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237036	NM_022895.3(C12orf43):c.302C>T (p.Ser101Leu)	C12orf43 (S59L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411781	NM_022895.3(C12orf43):c.14G>A (p.Ser5Asn)	C12orf43 (S5N)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2256246	NM_022895.3(C12orf43):c.10C>T (p.Pro4Ser)	C12orf43 (P4S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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