"Ambry Genetics"[submitter] AND "SPATS1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2590453	NM_001372081.1(SPATS1):c.16C>T (p.Leu6Phe)	POLR1C, SPATS1 (L6F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257768	NM_001372081.1(SPATS1):c.206G>C (p.Ser69Thr)	POLR1C, SPATS1 (S69T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549176	NM_001372081.1(SPATS1):c.227T>C (p.Val76Ala)	POLR1C, SPATS1 (V76A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389575	NM_001372081.1(SPATS1):c.305A>T (p.Asp102Val)	POLR1C, SPATS1 (D102V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297644	NM_001372081.1(SPATS1):c.307C>T (p.Arg103Trp)	POLR1C, SPATS1 (R103W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277056	NM_001372081.1(SPATS1):c.392G>C (p.Ser131Thr)	POLR1C, SPATS1 (S131T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614773	NM_001372081.1(SPATS1):c.477C>G (p.His159Gln)	POLR1C, SPATS1 (H159Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303140	NM_001372081.1(SPATS1):c.482G>A (p.Gly161Glu)	POLR1C, SPATS1 (G161E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287640	NM_001372081.1(SPATS1):c.490T>C (p.Cys164Arg)	POLR1C, SPATS1 (C164R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387434	NM_001372081.1(SPATS1):c.547G>A (p.Asp183Asn)	POLR1C, SPATS1 (D183N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370692	NM_001372081.1(SPATS1):c.607A>G (p.Thr203Ala)	POLR1C, SPATS1 (T203A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258436	NM_001372081.1(SPATS1):c.610C>A (p.Pro204Thr)	POLR1C, SPATS1 (P204T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495673	NM_001372081.1(SPATS1):c.649G>C (p.Gly217Arg)	POLR1C, SPATS1 (G217R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374139	NM_001372081.1(SPATS1):c.657C>A (p.His219Gln)	POLR1C, SPATS1 (H219Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464186	NM_001372081.1(SPATS1):c.679C>T (p.Pro227Ser)	POLR1C, SPATS1 (P227S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216321	NM_001372081.1(SPATS1):c.734T>C (p.Leu245Pro)	POLR1C, SPATS1 (L245P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543643	NM_001372081.1(SPATS1):c.888T>G (p.Phe296Leu)	POLR1C, SPATS1 (F296L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance