"Ambry Genetics"[submitter] AND "PSORS1C2"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2483536	NM_014069.3(PSORS1C2):c.376C>T (p.Pro126Ser)	PSORS1C1, PSORS1C2 (P126S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220524	NM_014069.3(PSORS1C2):c.340C>T (p.Pro114Ser)	PSORS1C1, PSORS1C2 (P114S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618113	NM_014069.3(PSORS1C2):c.221G>A (p.Arg74Lys)	PSORS1C1, PSORS1C2 (R74K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603988	NM_014069.3(PSORS1C2):c.209G>C (p.Ser70Thr)	PSORS1C1, PSORS1C2 (S70T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351999	NM_014069.3(PSORS1C2):c.166G>A (p.Gly56Arg)	PSORS1C1, PSORS1C2 (G56R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494361	NM_014069.3(PSORS1C2):c.125C>T (p.Thr42Ile)	PSORS1C1, PSORS1C2 (T42I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220523	NM_014068.3(PSORS1C1):c.109C>T (p.Arg37Cys)	PSORS1C1, PSORS1C2 (R37C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408342	NM_014068.3(PSORS1C1):c.134G>T (p.Arg45Leu)	PSORS1C1, PSORS1C2 (R45L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign