"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SPR"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 239509	NM_003124.5(SPR):c.112G>A (p.Val38Ile)	SPR, LOC129934069 (V38I)	Single nucleotide variant (missense variant)	Dystonic disorder +4 more	GConflicting classifications of pathogenicity
Select item 444505	NM_003124.5(SPR):c.193C>T (p.Arg65Trp)	LOC129934069, SPR (R65W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 336991	NM_003124.5(SPR):c.380A>G (p.Asn127Ser)	SPR (N127S)	Single nucleotide variant (missense variant)	Dystonic disorder +2 more	GUncertain significance
Select item 12941	NM_003124.5(SPR):c.448A>G (p.Arg150Gly)	SPR (R150G)	Single nucleotide variant (missense variant)	SPR-related condition +3 more	GPathogenic
Select item 444506	NM_003124.5(SPR):c.472C>G (p.Leu158Val)	SPR (L158V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 808768	NM_003124.5(SPR):c.511T>C (p.Cys171Arg)	SPR (C171R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 808769	NM_003124.5(SPR):c.517G>T (p.Gly173Ter)	SPR (G173*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 493280	NM_003124.5(SPR):c.744C>T (p.Asp248=)	SPR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1382722	NM_003124.5(SPR):c.745G>A (p.Glu249Lys)	SPR (E249K)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GUncertain significance
Select item 12944	NM_003124.5(SPR):c.751A>T (p.Lys251Ter)	SPR (K251*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 444507	NM_003124.5(SPR):c.783_786del (p.Ter262ProextTer?)	SPR	Deletion (frameshift variant)	not provided	GLikely pathogenic