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

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2204263	NM_000655.5(SELL):c.1070G>T (p.Arg357Ile)	SELL (R357I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159669	NM_000655.5(SELL):c.973A>G (p.Met325Val)	SELL (M325V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159674	NM_000655.5(SELL):c.960C>A (p.Asp320Glu)	SELL (D320E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311084	NM_000655.5(SELL):c.886A>C (p.Ile296Leu)	SELL (I296L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159673	NM_000655.5(SELL):c.785T>C (p.Leu262Pro)	SELL (L262P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159672	NM_000655.5(SELL):c.731T>C (p.Phe244Ser)	SELL (F244S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322368	NM_000655.5(SELL):c.697T>A (p.Leu233Ile)	SELL (L233I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159671	NM_000655.5(SELL):c.648C>G (p.Asn216Lys)	SELL (N216K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245359	NM_000655.5(SELL):c.578T>A (p.Phe193Tyr)	SELL (F193Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263614	NM_000655.5(SELL):c.565C>T (p.Pro189Ser)	SELL (P189S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159670	NM_000655.5(SELL):c.551T>C (p.Val184Ala)	SELL (V184A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595923	NM_000655.5(SELL):c.508G>C (p.Glu170Gln)	SELL (E170Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317262	NM_000655.5(SELL):c.494G>A (p.Cys165Tyr)	SELL (C165Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271925	NM_000655.5(SELL):c.283G>A (p.Gly95Arg)	SELL (G95R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317263	NM_000655.5(SELL):c.250C>T (p.Arg84Cys)	SELL (R84C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342881	NM_000655.5(SELL):c.173G>A (p.Arg58Gln)	SELL (R58Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign