C0037771[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5660	NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys)	SPAST (R499C +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 374070	NM_014946.4(SPAST):c.1670C>G (p.Ala557Gly)	SPAST (A557G +3 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraparesis	GLikely pathogenic
Select item 5045	NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)	AAAS (S263P +1 more)	Single nucleotide variant (missense variant)	Hyperreflexia +5 more	GPathogenic/Likely pathogenic
Select item 374112	NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)	SPG11 (L1794P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +7 more	GConflicting classifications of pathogenicity
Select item 374071	NM_025137.4(SPG11):c.3785G>T (p.Gly1262Val)	SPG11 (G1262V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +4 more	GConflicting classifications of pathogenicity
Select item 411680	NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)	SPG7	Deletion (splice acceptor variant)	Hereditary spastic paraplegia 7 +10 more	GPathogenic
Select item 42016	NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	SPG7 (A510V)	Single nucleotide variant (missense variant)	SPG7-related condition +11 more	GPathogenic/Likely pathogenic
Select item 373933	NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp)	CACNA1A (R192W)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +2 more	GConflicting classifications of pathogenicity