"Ambry Genetics"[submitter] AND "LOC101929710"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2228263	NM_000439.5(PCSK1):c.2179G>A (p.Val727Ile)	CAST, LOC101929710 +1 more (V680I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302633	NM_000439.5(PCSK1):c.1951G>A (p.Val651Ile)	CAST, LOC101929710 +1 more (V651I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2487997	NM_000439.5(PCSK1):c.1712T>A (p.Ile571Asn)	CAST, LOC101929710 +1 more (I571N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508256	NM_000439.5(PCSK1):c.1673C>A (p.Thr558Lys)	CAST, LOC101929710 +1 more (T511K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303280	NM_000439.5(PCSK1):c.1597A>G (p.Thr533Ala)	CAST, LOC101929710 +1 more (T486A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321265	NM_000439.5(PCSK1):c.1405G>T (p.Val469Leu)	CAST, LOC101929710 +1 more (V469L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306075	NM_000439.5(PCSK1):c.1268A>G (p.Asn423Ser)	CAST, LOC101929710 +1 more (N376S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247212	NM_000439.5(PCSK1):c.1221G>A (p.Met407Ile)	CAST, LOC101929710 +1 more (M360I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595889	NM_000439.5(PCSK1):c.1124C>T (p.Thr375Met)	CAST, LOC101929710 +1 more (T328M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546902	NM_000439.5(PCSK1):c.1124C>G (p.Thr375Arg)	CAST, LOC101929710 +1 more (T375R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266894	NM_000439.5(PCSK1):c.1063T>C (p.Tyr355His)	CAST, LOC101929710 +1 more (Y308H +1 more)	Single nucleotide variant (missense variant)	PCSK1-related condition +1 more	GUncertain significance
Select item 2555350	NM_000439.5(PCSK1):c.323G>C (p.Ser108Thr)	CAST, LOC101929710 +1 more (S61T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 907946	NM_000439.5(PCSK1):c.121G>A (p.Gly41Arg)	CAST, LOC101929710 +1 more (G41R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance