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

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522160	NM_000047.3(ARSL):c.1471G>A (p.Ala491Thr)	ARSL (A491T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540533	NM_000047.3(ARSL):c.1456C>T (p.Pro486Ser)	ARSL (P486S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493483	NM_000047.3(ARSL):c.1418C>A (p.Thr473Lys)	ARSL (T482K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2545163	NM_000047.3(ARSL):c.1117A>G (p.Ile373Val)	ARSL (I319V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521822	NM_000047.3(ARSL):c.1043T>C (p.Ile348Thr)	ARSL (I373T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2467113	NM_000047.3(ARSL):c.967G>A (p.Val323Ile)	ARSL (V269I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 522059	NM_000047.3(ARSL):c.958G>A (p.Gly320Arg)	ARSL (G320R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594519	NM_000047.3(ARSL):c.785C>T (p.Thr262Met)	ARSL (T208M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 498445	NM_000047.3(ARSL):c.715G>A (p.Ala239Thr)	ARSL (A239T +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2474472	NM_000047.3(ARSL):c.698C>T (p.Ser233Leu)	ARSL (S179L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 767284	NM_000047.3(ARSL):c.664G>A (p.Val222Ile)	ARSL (V168I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign