"Ambry Genetics"[submitter] AND "PLS3"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2273675	NM_005032.7(PLS3):c.56A>G (p.Glu19Gly)	PLS3 (E19G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2081062	NM_005032.7(PLS3):c.86A>G (p.Asn29Ser)	PLS3 (N7S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2327650	NM_005032.7(PLS3):c.701T>C (p.Ile234Thr)	PLS3 (I207T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286112	NM_005032.7(PLS3):c.877A>G (p.Ser293Gly)	PLS3 (S266G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2484587	NM_005032.7(PLS3):c.928G>A (p.Ala310Thr)	PLS3 (A283T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496359	NM_005032.7(PLS3):c.1243C>T (p.His415Tyr)	PLS3 (H388Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373382	NM_005032.7(PLS3):c.1343C>T (p.Pro448Leu)	PLS3 (P421L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339830	NM_005032.7(PLS3):c.1540G>C (p.Gly514Arg)	PLS3 (G469R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485048	NM_005032.7(PLS3):c.1696T>G (p.Cys566Gly)	PLS3 (C539G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301800	NM_005032.7(PLS3):c.1802A>G (p.Tyr601Cys)	PLS3 (Y556C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance