"Ambry Genetics"[submitter] AND "WASHC5"[gene] - ClinVar

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

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2261046	NM_014846.4(WASHC5):c.3439G>A (p.Val1147Met)	WASHC5 (V1147M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 970935	NM_014846.4(WASHC5):c.3356C>G (p.Pro1119Arg)	WASHC5 (P971R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +3 more	GUncertain significance
Select item 2240630	NM_014846.4(WASHC5):c.3026T>G (p.Leu1009Arg)	WASHC5 (L1009R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230355	NM_014846.4(WASHC5):c.2836G>A (p.Glu946Lys)	WASHC5, WASHC5-AS1 (E798K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231432	NM_014846.4(WASHC5):c.2505-3T>C	WASHC5, WASHC5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 986026	NM_014846.4(WASHC5):c.2489G>A (p.Arg830Gln)	WASHC5 (R682Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +2 more	GConflicting classifications of pathogenicity
Select item 2229401	NM_014846.4(WASHC5):c.2484C>G (p.Ile828Met)	WASHC5 (I680M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218130	NM_014846.4(WASHC5):c.2439del (p.Val814fs)	WASHC5 (V666fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2227429	NM_014846.4(WASHC5):c.2273T>C (p.Ile758Thr)	WASHC5 (I758T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 581894	NM_014846.4(WASHC5):c.2003G>T (p.Gly668Val)	WASHC5 (G668V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +2 more	GUncertain significance
Select item 1986598	NM_014846.4(WASHC5):c.1963C>T (p.Arg655Cys)	WASHC5 (R655C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 531991	NM_014846.4(WASHC5):c.1942G>A (p.Asp648Asn)	WASHC5 (D648N +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1161	NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)	WASHC5 (V626F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 2256618	NM_014846.4(WASHC5):c.1844A>G (p.Tyr615Cys)	WASHC5 (Y615C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1525025	NM_014846.4(WASHC5):c.1550A>G (p.Asn517Ser)	WASHC5 (N517S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +2 more	GUncertain significance
Select item 566111	NM_014846.4(WASHC5):c.1178G>A (p.Arg393His)	WASHC5 (R393H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 218709	NM_014846.4(WASHC5):c.1007G>C (p.Arg336Thr)	WASHC5 (R336T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +3 more	GConflicting classifications of pathogenicity
Select item 985779	NM_014846.4(WASHC5):c.739C>T (p.Arg247Cys)	WASHC5 (R247C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279951	NM_014846.4(WASHC5):c.685C>G (p.Leu229Val)	WASHC5 (L81V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 951266	NM_014846.4(WASHC5):c.625G>A (p.Glu209Lys)	WASHC5 (E61K +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 1 +3 more	GUncertain significance
Select item 2265467	NM_014846.4(WASHC5):c.246A>C (p.Glu82Asp)	WASHC5 (E82D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 986025	NM_014846.4(WASHC5):c.232C>T (p.Gln78Ter)	WASHC5 (Q78*)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 22