"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344359	NM_014846.4(WASHC5):c.*125A>G	WASHC5	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344371	NM_014846.4(WASHC5):c.3470C>T (p.Thr1157Ile)	WASHC5 (T1009I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 188277	NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met)	LOC126860498, WASHC5 (V1107M +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 196031	NM_014846.4(WASHC5):c.3296T>C (p.Ile1099Thr)	LOC126860498, WASHC5 (I1099T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 129376	NM_014846.4(WASHC5):c.3291G>A (p.Ala1097=)	LOC126860498, WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +3 more	GBenign
Select item 1344370	NM_014846.4(WASHC5):c.3276C>T (p.Thr1092=)	LOC126860498, WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 361712	NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=)	LOC126860498, WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +6 more	GBenign/Likely benign
Select item 410081	NM_014846.4(WASHC5):c.3104G>A (p.Arg1035His)	WASHC5 (R1035H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +2 more	GUncertain significance
Select item 410080	NM_014846.4(WASHC5):c.2972T>C (p.Ile991Thr)	WASHC5 (I991T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +4 more	GUncertain significance
Select item 1344369	NM_014846.4(WASHC5):c.2955-6C>G	WASHC5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 427183	NM_014846.4(WASHC5):c.2888A>G (p.Asn963Ser)	WASHC5 (N963S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1344368	NM_014846.4(WASHC5):c.2881A>G (p.Ile961Val)	WASHC5 (I813V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 195766	NM_014846.4(WASHC5):c.2771-7T>C	WASHC5, WASHC5-AS1	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome +4 more	GBenign/Likely benign
Select item 1344367	NM_014846.4(WASHC5):c.2716C>G (p.Gln906Glu)	WASHC5, WASHC5-AS1 (Q758E +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 871938	NM_014846.4(WASHC5):c.2580C>T (p.Leu860=)	WASHC5, WASHC5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1030374	NM_014846.4(WASHC5):c.2533A>G (p.Thr845Ala)	WASHC5, WASHC5-AS1 (T697A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 696132	NM_014846.4(WASHC5):c.2485C>T (p.Leu829=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GBenign/Likely benign
Select item 374553	NM_014846.4(WASHC5):c.2422A>G (p.Ile808Val)	WASHC5 (I808V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1344366	NM_014846.4(WASHC5):c.2120A>C (p.Glu707Ala)	WASHC5 (E559A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 361717	NM_014846.4(WASHC5):c.2100G>A (p.Val700=)	WASHC5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1344365	NM_014846.4(WASHC5):c.1966C>G (p.Leu656Val)	WASHC5 (L508V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	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 810309	NM_014846.4(WASHC5):c.1892C>T (p.Pro631Leu)	WASHC5 (P483L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GUncertain significance
Select item 1344364	NM_014846.4(WASHC5):c.1885A>T (p.Ile629Phe)	WASHC5 (I481F +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1161	NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)	WASHC5 (V626F +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GPathogenic/Likely pathogenic
Select item 39008	NM_014846.4(WASHC5):c.1857G>T (p.Leu619Phe)	WASHC5 (L619F +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 497949	NM_014846.4(WASHC5):c.1818C>T (p.Pro606=)	WASHC5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 415947	NM_014846.4(WASHC5):c.1688+10del	WASHC5	Deletion (intron variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1344363	NM_014846.4(WASHC5):c.1642A>G (p.Met548Val)	WASHC5 (M400V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 1344362	NM_014846.4(WASHC5):c.1550A>T (p.Asn517Ile)	WASHC5 (N369I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 697199	NM_014846.4(WASHC5):c.1522-10T>A	WASHC5	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1344361	NM_014846.4(WASHC5):c.1488A>G (p.Arg496=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 361722	NM_014846.4(WASHC5):c.1408+7A>G	WASHC5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 8 +5 more	GBenign
Select item 361725	NM_014846.4(WASHC5):c.1245A>G (p.Leu415=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +5 more	GBenign
Select item 424435	NM_014846.4(WASHC5):c.1238T>G (p.Leu413Arg)	WASHC5 (L413R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1285109	NM_014846.4(WASHC5):c.1217A>G (p.Asn406Ser)	WASHC5 (N258S +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +2 more	GUncertain significance
Select item 361727	NM_014846.4(WASHC5):c.1151-8G>A	WASHC5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 8 +5 more	GBenign
Select item 1344360	NM_014846.4(WASHC5):c.1109A>G (p.Asn370Ser)	WASHC5 (N222S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 361729	NM_014846.4(WASHC5):c.732G>A (p.Pro244=)	WASHC5	Single nucleotide variant (synonymous variant)	WASHC5-related condition +4 more	GBenign/Likely benign
Select item 218710	NM_014846.4(WASHC5):c.639G>C (p.Gln213His)	WASHC5 (Q213H +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 289452	NM_014846.4(WASHC5):c.617A>G (p.Asn206Ser)	WASHC5 (N206S +1 more)	Single nucleotide variant (missense variant)	WASHC5-related condition +5 more	GLikely benign
Select item 129377	NM_014846.4(WASHC5):c.597A>G (p.Pro199=)	WASHC5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1014644	NM_014846.4(WASHC5):c.143A>G (p.Gln48Arg)	WASHC5 (Q48R)	Single nucleotide variant (missense variant +1 more)	Ritscher-Schinzel syndrome +2 more	GUncertain significance

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Items: 43