WASHC5[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 908286	NM_014846.4(WASHC5):c.*337A>G	WASHC5	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 8	GUncertain significance
Select item 361706	NM_014846.4(WASHC5):c.269_270del	WASHC5	Deletion (3 prime UTR variant)	Spastic paraplegia, autosomal dominant	GLikely benign
Select item 908287	NM_014846.4(WASHC5):c.*218T>C	WASHC5	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 8	GBenign
Select item 910235	NM_014846.4(WASHC5):c.*190C>T	WASHC5	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 8	GUncertain significance
Select item 910236	NM_014846.4(WASHC5):c.*177A>C	WASHC5	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 8	GUncertain significance
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 361707	NM_014846.4(WASHC5):c.*124A>C	WASHC5	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 8	GUncertain significance
Select item 361708	NM_014846.4(WASHC5):c.*78A>G	WASHC5	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 8	GBenign
Select item 361709	NM_014846.4(WASHC5):c.*40del	WASHC5	Deletion (3 prime UTR variant)	Spastic paraplegia, autosomal dominant	GLikely benign
Select item 219828	NM_014846.4(WASHC5):c.*3del	WASHC5	Deletion (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
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 3349854	NM_014846.4(WASHC5):c.3462G>T (p.Glu1154Asp)	WASHC5 (E1006D +1 more)	Single nucleotide variant (missense variant)	WASHC5-related disorder	GUncertain significance
Select item 2016979	NM_014846.4(WASHC5):c.3450C>G (p.Phe1150Leu)	WASHC5 (F1002L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 910237	NM_014846.4(WASHC5):c.3441G>A (p.Val1147=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8	GUncertain significance
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 361710	NM_014846.4(WASHC5):c.3438T>C (p.His1146=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8	GUncertain significance
Select item 1030376	NM_014846.4(WASHC5):c.3424-1G>T	WASHC5	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 8	GLikely pathogenic
Select item 1966591	NM_014846.4(WASHC5):c.3424-19_3424-15del	WASHC5	Microsatellite (intron variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 1278382	NM_014846.4(WASHC5):c.3424-118T>C	WASHC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683815	NM_014846.4(WASHC5):c.3423+289G>A	WASHC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293644	NM_014846.4(WASHC5):c.3423+237C>T	WASHC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 361711	NM_014846.4(WASHC5):c.3423+12_3423+15del	WASHC5	Microsatellite (intron variant)	Spastic paraplegia, autosomal dominant	GUncertain significance
Select item 2056949	NM_014846.4(WASHC5):c.3400C>T (p.Arg1134Trp)	WASHC5 (R1134W +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 1108174	NM_014846.4(WASHC5):c.3375C>T (p.Ala1125=)	WASHC5	Single nucleotide variant (synonymous variant)	Ritscher-Schinzel syndrome +1 more	GLikely benign
Select item 970935	NM_014846.4(WASHC5):c.3356C>G (p.Pro1119Arg)	WASHC5 (P971R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 683812	NM_014846.4(WASHC5):c.3181+288T>C	WASHC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682817	NM_014846.4(WASHC5):c.3181+36A>G	WASHC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 389009	NM_014846.4(WASHC5):c.3181+4C>T	WASHC5	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 1549859	NM_014846.4(WASHC5):c.3165A>G (p.Gln1055=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 2926101	NM_014846.4(WASHC5):c.3146C>T (p.Ala1049Val)	WASHC5 (A1049V +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 1677890	NM_014846.4(WASHC5):c.3145G>A (p.Ala1049Thr)	WASHC5 (A1049T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +2 more	GUncertain significance
Select item 2926455	NM_014846.4(WASHC5):c.3144C>T (p.Ile1048=)	WASHC5	Single nucleotide variant (synonymous variant)	Ritscher-Schinzel syndrome +1 more	GLikely benign
Select item 2172133	NM_014846.4(WASHC5):c.3129C>G (p.Asn1043Lys)	WASHC5 (N895K +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	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 1408475	NM_014846.4(WASHC5):c.3121A>G (p.Ile1041Val)	WASHC5 (I1041V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 911128	NM_014846.4(WASHC5):c.3118C>G (p.Pro1040Ala)	WASHC5 (P892A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GConflicting classifications of pathogenicity
Select item 410081	NM_014846.4(WASHC5):c.3104G>A (p.Arg1035His)	WASHC5 (R1035H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 1503877	NM_014846.4(WASHC5):c.3103C>T (p.Arg1035Cys)	WASHC5 (R1035C +1 more)	Single nucleotide variant (missense variant)	WASHC5-related disorder +2 more	GUncertain significance
Select item 1306430	NM_014846.4(WASHC5):c.3103C>G (p.Arg1035Gly)	WASHC5 (R1035G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2925324	NM_014846.4(WASHC5):c.3085-8C>T	WASHC5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 8 +2 more	GConflicting classifications of pathogenicity
Select item 1183588	NM_014846.4(WASHC5):c.3085-52G>A	WASHC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682822	NM_014846.4(WASHC5):c.3084+193G>A	WASHC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1979985	NM_014846.4(WASHC5):c.3084+18A>G	WASHC5	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome +1 more	GLikely benign
Select item 2658801	NM_014846.4(WASHC5):c.3072C>A (p.Asn1024Lys)	WASHC5 (N1024K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 911129	NM_014846.4(WASHC5):c.3065T>C (p.Ile1022Thr)	WASHC5 (I1022T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8	GUncertain significance
Select item 583273	NM_014846.4(WASHC5):c.3047A>G (p.Tyr1016Cys)	WASHC5 (Y1016C +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 435567	NM_014846.4(WASHC5):c.3029T>G (p.Leu1010Ter)	WASHC5 (L1010* +1 more)	Single nucleotide variant (nonsense)	not specified	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 573798	NM_014846.4(WASHC5):c.3024_3025del (p.Leu1009fs)	WASHC5 (L1009fs +1 more)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 8 +1 more	GPathogenic
Select item 1314905	NM_014846.4(WASHC5):c.3004T>A (p.Tyr1002Asn)	WASHC5 (Y1002N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579895	NM_014846.4(WASHC5):c.2998C>T (p.Leu1000Phe)	WASHC5 (L1000F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683027	NM_014846.4(WASHC5):c.2993C>T (p.Pro998Leu)	WASHC5 (P850L +1 more)	Single nucleotide variant (missense variant)	not provided	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 2088836	NM_014846.4(WASHC5):c.2973T>G (p.Ile991Met)	WASHC5 (I991M +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 410080	NM_014846.4(WASHC5):c.2972T>C (p.Ile991Thr)	WASHC5 (I991T +1 more)	Single nucleotide variant (missense variant)	WASHC5-related disorder +4 more	GUncertain significance
Select item 463139	NM_014846.4(WASHC5):c.2971A>G (p.Ile991Val)	WASHC5 (I991V +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 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 1608046	NM_014846.4(WASHC5):c.2955-7C>T	WASHC5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 1156720	NM_014846.4(WASHC5):c.2955-10C>G	WASHC5	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome +1 more	GLikely benign
Select item 683810	NM_014846.4(WASHC5):c.2955-299T>G	WASHC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208465	NM_014846.4(WASHC5):c.2954+251T>G	WASHC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191763	NM_014846.4(WASHC5):c.2954+56G>A	WASHC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 361714	NM_014846.4(WASHC5):c.2954+13G>T	WASHC5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 8	GUncertain significance
Select item 698126	NM_014846.4(WASHC5):c.2954+10A>G	WASHC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2576957	NM_014846.4(WASHC5):c.2954+3_2954+4delinsGC	WASHC5	Indel (intron variant)	Ritscher-Schinzel syndrome 1	GLikely pathogenic
Select item 1801336	NM_014846.4(WASHC5):c.2954+3_2954+4delinsCG	WASHC5	Indel (intron variant)	Ritscher-Schinzel syndrome 1	GUncertain significance
Select item 2585567	NM_014846.4(WASHC5):c.2950A>G (p.Asn984Asp)	WASHC5 (N836D +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8	GUncertain significance
Select item 1979221	NM_014846.4(WASHC5):c.2949C>T (p.Leu983=)	WASHC5	Single nucleotide variant (synonymous variant)	Ritscher-Schinzel syndrome +1 more	GLikely benign
Select item 2581001	NM_014846.4(WASHC5):c.2939T>C (p.Leu980Pro)	WASHC5 (L832P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8	GUncertain significance
Select item 1913514	NM_014846.4(WASHC5):c.2938C>T (p.Leu980=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 2925451	NM_014846.4(WASHC5):c.2928G>C (p.Leu976=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 3239230	NM_014846.4(WASHC5):c.2909G>A (p.Arg970Gln)	WASHC5 (R822Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2923604	NM_014846.4(WASHC5):c.2904T>G (p.Ser968=)	WASHC5	Single nucleotide variant (synonymous variant)	Ritscher-Schinzel syndrome +1 more	GLikely benign
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 3342733	NM_014846.4(WASHC5):c.2867T>C (p.Ile956Thr)	WASHC5 (I808T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2937401	NM_014846.4(WASHC5):c.2860A>T (p.Met954Leu)	WASHC5 (M954L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 2044952	NM_014846.4(WASHC5):c.2851-18del	WASHC5	Deletion (intron variant)	Hereditary spastic paraplegia 8 +1 more	GBenign
Select item 682815	NM_014846.4(WASHC5):c.2851-210A>G	WASHC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671065	NM_014846.4(WASHC5):c.2851-348A>G	WASHC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196109	NM_014846.4(WASHC5):c.2504+99C>T	WASHC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023490	NM_014846.4(WASHC5):c.2504+5G>A	WASHC5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 714467	NM_014846.4(WASHC5):c.2502A>G (p.Pro834=)	WASHC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 986026	NM_014846.4(WASHC5):c.2489G>A (p.Arg830Gln)	WASHC5 (R682Q +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 696132	NM_014846.4(WASHC5):c.2485C>T (p.Leu829=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +2 more	GBenign/Likely benign
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 2438559	NM_014846.4(WASHC5):c.2468G>A (p.Arg823Gln)	WASHC5 (R675Q +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +2 more	GUncertain significance
Select item 911332	NM_014846.4(WASHC5):c.2457G>A (p.Thr819=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8	GUncertain significance
Select item 2940559	NM_014846.4(WASHC5):c.2438_2439del (p.Pro813fs)	WASHC5 (P813fs +1 more)	Deletion (frameshift variant)	Ritscher-Schinzel syndrome +1 more	GPathogenic
Select item 2218130	NM_014846.4(WASHC5):c.2439del (p.Val814fs)	WASHC5 (V666fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1585518	NM_014846.4(WASHC5):c.2430G>A (p.Lys810=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 216683	NM_014846.4(WASHC5):c.2430G>C (p.Lys810Asn)	WASHC5 (K810N +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 1299699	NM_014846.4(WASHC5):c.2429A>T (p.Lys810Met)	WASHC5 (K662M +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 1 +2 more	GUncertain significance
Select item 1163493	NM_014846.4(WASHC5):c.2426C>G (p.Pro809Arg)	WASHC5 (P661R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +2 more	GUncertain significance
Select item 374553	NM_014846.4(WASHC5):c.2422A>G (p.Ile808Val)	WASHC5 (I808V +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +4 more	GUncertain significance
Select item 862787	NM_014846.4(WASHC5):c.2410A>G (p.Thr804Ala)	WASHC5 (T656A +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 2658803	NM_014846.4(WASHC5):c.2404del (p.Gln802fs)	WASHC5 (Q654fs +1 more)	Deletion (frameshift variant)	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 1175788	NM_014846.4(WASHC5):c.2380-6T>C	WASHC5	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2690446	NM_014846.4(WASHC5):c.2380-9G>A	WASHC5	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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