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

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3169361	NM_003124.5(SPR):c.83C>A (p.Ala28Asp)	LOC129934069, SPR (A28D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2157021	NM_003124.5(SPR):c.104C>T (p.Ser35Phe)	LOC129934069, SPR (S35F)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GUncertain significance
Select item 2271864	NM_003124.5(SPR):c.130G>C (p.Asp44His)	LOC129934069, SPR (D44H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1332715	NM_003124.5(SPR):c.262C>T (p.Arg88Trp)	SPR (R88W)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 569621	NM_003124.5(SPR):c.266C>T (p.Pro89Leu)	SPR (P89L)	Single nucleotide variant (missense variant)	Dystonic disorder +2 more	GUncertain significance
Select item 3169359	NM_003124.5(SPR):c.386C>T (p.Thr129Ile)	SPR (T129I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 574755	NM_003124.5(SPR):c.502G>A (p.Ala168Thr)	SPR (A168T)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GUncertain significance
Select item 985237	NM_003124.5(SPR):c.587A>G (p.Tyr196Cys)	SPR (Y196C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 574213	NM_003124.5(SPR):c.654G>A (p.Met218Ile)	SPR (M218I)	Single nucleotide variant (missense variant)	Dystonic disorder +2 more	GUncertain significance
Select item 660797	NM_003124.5(SPR):c.706G>A (p.Val236Met)	SPR (V236M)	Single nucleotide variant (missense variant)	Dystonic disorder +3 more	GConflicting classifications of pathogenicity