"Paris Brain Institute, Inserm - ICM"[submitter] AND "WASHC5"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 989076	NM_014846.4(WASHC5):c.2752C>T (p.Pro918Ser)	WASHC5, WASHC5-AS1 (P770S +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GUncertain significance
Select item 989011	NM_014846.4(WASHC5):c.2645T>A (p.Phe882Tyr)	WASHC5, WASHC5-AS1 (F734Y +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8	GPathogenic
Select item 578334	NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp)	WASHC5 (G696D +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GPathogenic/Likely pathogenic
Select item 410079	NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser)	WASHC5 (G696S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GPathogenic/Likely pathogenic
Select item 1161	NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)	WASHC5 (V626F +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +4 more	GPathogenic/Likely pathogenic
Select item 463137	NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro)	WASHC5 (S591P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GPathogenic/Likely pathogenic
Select item 573698	NM_014846.4(WASHC5):c.1747A>G (p.Arg583Gly)	WASHC5 (R583G +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GConflicting classifications of pathogenicity
Select item 989010	NM_014846.4(WASHC5):c.1474A>C (p.Thr492Pro)	WASHC5 (T344P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8	GPathogenic