Related gene-specific medical variations for Gene (Select 9897) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233460	NM_014846.4(WASHC5):c.2665C>G (p.Gln889Glu)	WASHC5, WASHC5-AS1 (Q741E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3065401	NM_014846.4(WASHC5):c.1025A>C (p.Gln342Pro)	WASHC5 (Q194P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8	GUncertain significance
Select item 2943455	NM_014846.4(WASHC5):c.2771-17A>G	WASHC5, WASHC5-AS1	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome +1 more	GLikely benign
Select item 2940296	NM_014846.4(WASHC5):c.2711C>T (p.Thr904Ile)	WASHC5, WASHC5-AS1 (T756I +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 2935931	NM_014846.4(WASHC5):c.2842A>G (p.Ile948Val)	WASHC5, WASHC5-AS1 (I800V +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 2933971	NM_014846.4(WASHC5):c.3328T>C (p.Cys1110Arg)	LOC126860498, WASHC5 (C1110R +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 2932238	NM_014846.4(WASHC5):c.3217T>C (p.Trp1073Arg)	LOC126860498, WASHC5 (W1073R +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 2931637	NM_014846.4(WASHC5):c.2654T>C (p.Val885Ala)	WASHC5, WASHC5-AS1 (V885A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 2931251	NM_014846.4(WASHC5):c.3182-16A>G	LOC126860498, WASHC5	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2930459	NM_014846.4(WASHC5):c.2671T>G (p.Phe891Val)	WASHC5, WASHC5-AS1 (F891V +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 2928009	NM_014846.4(WASHC5):c.3207C>A (p.Asp1069Glu)	LOC126860498, WASHC5 (D1069E +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 2927044	NM_014846.4(WASHC5):c.2733C>T (p.Thr911=)	WASHC5, WASHC5-AS1	Single nucleotide variant (synonymous variant)	Ritscher-Schinzel syndrome +1 more	GLikely benign
Select item 2923563	NM_014846.4(WASHC5):c.3335+9G>T	WASHC5, LOC126860498	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome +1 more	GLikely benign
Select item 2922521	NM_014846.4(WASHC5):c.2833C>G (p.Leu945Val)	WASHC5, WASHC5-AS1 (L945V +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 2690446	NM_014846.4(WASHC5):c.2380-9G>A	WASHC5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2658802	NM_014846.4(WASHC5):c.2794T>A (p.Ser932Thr)	WASHC5, WASHC5-AS1 (S784T +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +2 more	GUncertain significance
Select item 2658800	NM_014846.4(WASHC5):c.3258G>A (p.Gln1086=)	LOC126860498, WASHC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637728	NM_014846.4(WASHC5):c.2780A>G (p.Asn927Ser)	WASHC5, WASHC5-AS1 (N779S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505489	NM_014846.4(WASHC5):c.3182-3C>T	WASHC5, LOC126860498	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 8	GUncertain significance
Select item 2438560	NM_014846.4(WASHC5):c.2992C>T (p.Pro998Ser)	WASHC5 (P850S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431692	NM_014846.4(WASHC5):c.3209del (p.Pro1070fs)	WASHC5, LOC126860498 (P1070fs +1 more)	Deletion (frameshift variant)	Ritscher-Schinzel syndrome 1	GLikely pathogenic
Select item 2413827	NM_014846.4(WASHC5):c.2562A>G (p.Glu854=)	WASHC5, WASHC5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
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 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 2178537	NM_014846.4(WASHC5):c.3205G>A (p.Asp1069Asn)	LOC126860498, WASHC5 (D921N +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 2159249	NM_014846.4(WASHC5):c.3214G>A (p.Asp1072Asn)	LOC126860498, WASHC5 (D1072N +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 2126849	NM_014846.4(WASHC5):c.2647A>G (p.Met883Val)	WASHC5-AS1, WASHC5 (M735V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 2023842	NM_014846.4(WASHC5):c.2595_2599del (p.Gln865fs)	WASHC5, WASHC5-AS1 (Q865fs +1 more)	Deletion (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 8 +1 more	GPathogenic
Select item 2008542	NM_014846.4(WASHC5):c.2635C>A (p.Leu879Ile)	WASHC5, WASHC5-AS1 (L731I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 1986890	NM_014846.4(WASHC5):c.3209C>T (p.Pro1070Leu)	LOC126860498, WASHC5 (P922L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 1977260	NM_014846.4(WASHC5):c.2668-18G>A	WASHC5, WASHC5-AS1	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome +1 more	GLikely benign
Select item 1951240	NM_014846.4(WASHC5):c.2734C>T (p.Leu912Phe)	WASHC5, WASHC5-AS1 (L764F +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 1944782	NM_014846.4(WASHC5):c.2572A>G (p.Ser858Gly)	WASHC5, WASHC5-AS1 (S710G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 1806996	NM_014846.4(WASHC5):c.-2dup	WASHC5	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1806995	NM_014846.4(WASHC5):c.2391G>C (p.Trp797Cys)	WASHC5 (W649C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706212	NM_014846.4(WASHC5):c.2566A>G (p.Thr856Ala)	WASHC5, WASHC5-AS1 (T708A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 8 +2 more	GUncertain significance
Select item 1678211	NM_014846.4(WASHC5):c.2576G>A (p.Arg859His)	WASHC5, WASHC5-AS1 (R711H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1677889	NM_014846.4(WASHC5):c.3317C>T (p.Thr1106Met)	LOC126860498, WASHC5 (T1106M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1652774	NM_014846.4(WASHC5):c.3210G>T (p.Pro1070=)	LOC126860498, WASHC5	Single nucleotide variant (synonymous variant)	Ritscher-Schinzel syndrome +1 more	GLikely benign
Select item 1599873	NM_014846.4(WASHC5):c.2668-19C>T	WASHC5, WASHC5-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 8 +1 more	GBenign
Select item 1530937	NM_014846.4(WASHC5):c.3201G>A (p.Pro1067=)	WASHC5, LOC126860498	Single nucleotide variant (synonymous variant)	Ritscher-Schinzel syndrome +1 more	GLikely benign
Select item 1434841	NM_014846.4(WASHC5):c.3335+5A>C	LOC126860498, WASHC5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 1430957	NM_014846.4(WASHC5):c.2846T>C (p.Met949Thr)	WASHC5, WASHC5-AS1 (M801T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 1430473	NM_014846.4(WASHC5):c.2505-1G>C	WASHC5, WASHC5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 8 +1 more	GLikely pathogenic
Select item 1405977	NM_014846.4(WASHC5):c.2545A>G (p.Met849Val)	WASHC5, WASHC5-AS1 (M701V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 1397295	NM_014846.4(WASHC5):c.2770+6T>C	WASHC5, WASHC5-AS1	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 1375324	NM_014846.4(WASHC5):c.3202A>T (p.Thr1068Ser)	LOC126860498, WASHC5 (T920S +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 1358599	NM_014846.4(WASHC5):c.2506A>G (p.Met836Val)	WASHC5, WASHC5-AS1 (M836V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
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 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 1331504	NM_014846.4(WASHC5):c.3262dup (p.His1088fs)	LOC126860498, WASHC5 (H1088fs +1 more)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 1327241	NM_014846.4(WASHC5):c.2542G>C (p.Asp848His)	WASHC5, WASHC5-AS1 (D700H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1309821	NM_014846.4(WASHC5):c.3187G>C (p.Val1063Leu)	LOC126860498, WASHC5 (V1063L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1293643	NM_014846.4(WASHC5):c.3335+219T>G	LOC126860498, WASHC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256227	NM_014846.4(WASHC5):c.-9C>T	WASHC5	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1256226	NM_014846.4(WASHC5):c.1859T>G (p.Val620Gly)	WASHC5 (V472G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1248547	NM_014846.4(WASHC5):c.3335+24C>T	LOC126860498, WASHC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241709	NM_014846.4(WASHC5):c.3335+46C>T	LOC126860498, WASHC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231441	NM_014846.4(WASHC5):c.2850+207G>A	WASHC5, WASHC5-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221515	NM_014846.4(WASHC5):c.2505-80G>T	WASHC5, WASHC5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1196309	NM_014846.4(WASHC5):c.2850+219T>C	WASHC5, WASHC5-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183972	NM_014846.4(WASHC5):c.1275dup (p.Glu426fs)	WASHC5 (E278fs +1 more)	Duplication (frameshift variant)	Lower limb spasticity	GLikely pathogenic
Select item 1062381	NM_014846.4(WASHC5):c.2521G>C (p.Asp841His)	WASHC5, WASHC5-AS1 (D693H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 1056637	NM_014846.4(WASHC5):c.3335G>A (p.Ser1112Asn)	LOC126860498, WASHC5 (S1112N +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 1030375	NM_014846.4(WASHC5):c.2849A>G (p.Lys950Arg)	WASHC5, WASHC5-AS1 (K950R +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 1 +1 more	GUncertain significance
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 1027667	NM_014846.4(WASHC5):c.2199G>A (p.Lys733=)	WASHC5	Single nucleotide variant (synonymous variant)	Muscle weakness	GUncertain significance
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 989010	NM_014846.4(WASHC5):c.1474A>C (p.Thr492Pro)	WASHC5 (T344P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8	GPathogenic
Select item 930737	NM_014846.4(WASHC5):c.712-9A>T	WASHC5	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 930699	NM_014846.4(WASHC5):c.3122T>C (p.Ile1041Thr)	WASHC5 (I893T +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 911331	NM_014846.4(WASHC5):c.2627T>C (p.Leu876Ser)	WASHC5, WASHC5-AS1 (L876S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 911330	NM_014846.4(WASHC5):c.2667+10T>C	WASHC5, WASHC5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 8	GUncertain significance
Select item 911127	NM_014846.4(WASHC5):c.3282G>A (p.Gln1094=)	LOC126860498, WASHC5	Single nucleotide variant (synonymous variant)	Ritscher-Schinzel syndrome +1 more	GConflicting classifications of pathogenicity
Select item 909266	NM_014846.4(WASHC5):c.-276G>A	LOC130001093, WASHC5	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 8	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 862403	NM_014846.4(WASHC5):c.2789A>C (p.Tyr930Ser)	WASHC5, WASHC5-AS1 (Y782S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 841833	NM_014846.4(WASHC5):c.3329G>A (p.Cys1110Tyr)	LOC126860498, WASHC5 (C962Y +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 703254	NM_014846.4(WASHC5):c.2505-9T>C	WASHC5, WASHC5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 659325	NM_014846.4(WASHC5):c.3269G>A (p.Arg1090Gln)	LOC126860498, WASHC5 (R1090Q +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 624344	NM_014846.4(WASHC5):c.2644T>G (p.Phe882Val)	WASHC5, WASHC5-AS1 (F882V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 581292	NM_014846.4(WASHC5):c.2769C>T (p.Val923=)	WASHC5, WASHC5-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 516650	NM_014846.4(WASHC5):c.2770+18_2770+19insG	WASHC5, WASHC5-AS1	Insertion (intron variant)	Hereditary spastic paraplegia 8 +2 more	GBenign
Select item 514052	NM_014846.4(WASHC5):c.2532C>T (p.Asn844=)	WASHC5, WASHC5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 8 +2 more	GLikely benign
Select item 463140	NM_014846.4(WASHC5):c.3210G>A (p.Pro1070=)	LOC126860498, WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +1 more	GConflicting classifications of pathogenicity
Select item 390766	NM_014846.4(WASHC5):c.2829G>A (p.Ala943=)	WASHC5, WASHC5-AS1	Single nucleotide variant (synonymous variant)	Ritscher-Schinzel syndrome +3 more	GLikely benign
Select item 361744	NM_014846.4(WASHC5):c.-253G>A	LOC130001093, WASHC5	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 8	GBenign
Select item 361743	NM_014846.4(WASHC5):c.-245C>G	LOC130001093, WASHC5	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 8	GBenign
Select item 361740	NM_014846.4(WASHC5):c.-178T>C	LOC130001092, WASHC5	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 8	GBenign
Select item 361739	NM_014846.4(WASHC5):c.-167C>T	LOC130001092, WASHC5	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 8	GUncertain significance
Select item 361715	NM_014846.4(WASHC5):c.2850+4T>C	WASHC5, WASHC5-AS1	Single nucleotide variant (intron variant)	WASHC5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 361713	NM_014846.4(WASHC5):c.3200C>T (p.Pro1067Leu)	LOC126860498, WASHC5 (P1067L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 361712	NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=)	LOC126860498, WASHC5	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 287975	NM_014846.4(WASHC5):c.2575C>T (p.Arg859Cys)	WASHC5, WASHC5-AS1 (R859C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	WASHC5-related disorder +3 more	GUncertain significance
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 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 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 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 92129	NM_014846.4(WASHC5):c.3335+2T>A	LOC126860498, WASHC5	Single nucleotide variant (splice donor variant)	Ritscher-Schinzel syndrome 1	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 100