C1863704[trait identifier] AND "Athena Diagnostics"[submitter] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188277	NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met)	LOC126860498, WASHC5 (V1107M +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +4 more	GBenign/Likely benign
Select item 129376	NM_014846.4(WASHC5):c.3291G>A (p.Ala1097=)	LOC126860498, WASHC5	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 361712	NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=)	LOC126860498, WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +5 more	GBenign/Likely benign
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 634607	NM_014846.4(WASHC5):c.2327G>A (p.Arg776His)	WASHC5 (R776H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 448883	NM_014846.4(WASHC5):c.1968G>A (p.Leu656=)	WASHC5	Single nucleotide variant (synonymous variant)	Ritscher-Schinzel syndrome +2 more	GBenign/Likely benign
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 448882	NM_014846.4(WASHC5):c.1576G>A (p.Asp526Asn)	WASHC5 (D526N +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +3 more	GUncertain significance
Select item 697199	NM_014846.4(WASHC5):c.1522-10T>A	WASHC5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 8 +3 more	GConflicting classifications of pathogenicity
Select item 361722	NM_014846.4(WASHC5):c.1408+7A>G	WASHC5	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome +4 more	GBenign
Select item 361725	NM_014846.4(WASHC5):c.1245A>G (p.Leu415=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +4 more	GBenign
Select item 361726	NM_014846.4(WASHC5):c.1187A>G (p.Lys396Arg)	WASHC5 (K396R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 361727	NM_014846.4(WASHC5):c.1151-8G>A	WASHC5	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 463141	NM_014846.4(WASHC5):c.885G>A (p.Gly295=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +2 more	GConflicting classifications of pathogenicity
Select item 219414	NM_014846.4(WASHC5):c.867A>C (p.Val289=)	WASHC5	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 361729	NM_014846.4(WASHC5):c.732G>A (p.Pro244=)	WASHC5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 431857	NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu)	WASHC5 (P216L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +3 more	GConflicting classifications of pathogenicity
Select item 129377	NM_014846.4(WASHC5):c.597A>G (p.Pro199=)	WASHC5	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 361735	NM_014846.4(WASHC5):c.187-3C>T	WASHC5	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome +3 more	GBenign
Select item 387792	NM_014846.4(WASHC5):c.18C>T (p.Ala6=)	WASHC5	Single nucleotide variant (synonymous variant +1 more)	Ritscher-Schinzel syndrome +3 more	GLikely benign

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Items: 20