ClinVar for MedGen (Select 400359) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370057	NM_014846.4(WASHC5):c.1522G>T (p.Val508Phe)	WASHC5 (V360F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068577	NM_014846.4(WASHC5):c.296T>A (p.Phe99Tyr)	WASHC5 (F99Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 8	GConflicting classifications of pathogenicity
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 3027461	NM_014846.4(WASHC5):c.711+1G>A	WASHC5	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 8	GLikely pathogenic
Select item 3027454	NM_014846.4(WASHC5):c.2009G>A (p.Arg670Gln)	WASHC5 (R522Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8	GUncertain significance
Select item 2952444	NM_014846.4(WASHC5):c.186+3A>G	WASHC5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 2950002	NM_014846.4(WASHC5):c.332+4T>C	WASHC5	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 2948369	NM_014846.4(WASHC5):c.420T>G (p.Cys140Trp)	WASHC5 (C140W)	Single nucleotide variant (5 prime UTR variant +1 more)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 2947453	NM_014846.4(WASHC5):c.2098-5C>G	WASHC5	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 2943455	NM_014846.4(WASHC5):c.2771-17A>G	WASHC5, WASHC5-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
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 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 2939931	NM_014846.4(WASHC5):c.1166A>G (p.Asn389Ser)	WASHC5 (N389S +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 2938986	NM_014846.4(WASHC5):c.1368del (p.Ser458fs)	WASHC5 (S458fs +1 more)	Deletion (frameshift variant)	Ritscher-Schinzel syndrome +1 more	GPathogenic
Select item 2938218	NM_014846.4(WASHC5):c.656A>G (p.Glu219Gly)	WASHC5 (E219G +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	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 2936468	NM_014846.4(WASHC5):c.292G>T (p.Ala98Ser)	WASHC5 (A98S)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 8 +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)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 2934691	NM_014846.4(WASHC5):c.979-6G>A	WASHC5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 2933971	NM_014846.4(WASHC5):c.3328T>C (p.Cys1110Arg)	LOC126860498, WASHC5 (C1110R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 2933727	NM_014846.4(WASHC5):c.1121G>A (p.Arg374Gln)	WASHC5 (R374Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 2933329	NM_014846.4(WASHC5):c.712-13C>G	WASHC5	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome +1 more	GLikely benign
Select item 2932359	NM_014846.4(WASHC5):c.1850G>T (p.Gly617Val)	WASHC5 (G469V +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)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 2931358	NM_014846.4(WASHC5):c.187-18T>C	WASHC5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 2931251	NM_014846.4(WASHC5):c.3182-16A>G	WASHC5, LOC126860498	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2931217	NM_014846.4(WASHC5):c.26A>G (p.Asn9Ser)	WASHC5 (N9S)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 2931189	NM_014846.4(WASHC5):c.204A>G (p.Glu68=)	WASHC5	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 2931121	NM_014846.4(WASHC5):c.113C>G (p.Ala38Gly)	WASHC5 (A38G)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 2930730	NM_014846.4(WASHC5):c.2200-18G>A	WASHC5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 2930459	NM_014846.4(WASHC5):c.2671T>G (p.Phe891Val)	WASHC5, WASHC5-AS1 (F891V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 2930401	NM_014846.4(WASHC5):c.408A>G (p.Lys136=)	WASHC5	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 2930083	NM_014846.4(WASHC5):c.265A>G (p.Ile89Val)	WASHC5 (I89V)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 8 +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)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 2927252	NM_014846.4(WASHC5):c.193G>A (p.Glu65Lys)	WASHC5 (E65K)	Single nucleotide variant (5 prime UTR variant +1 more)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 2927136	NM_014846.4(WASHC5):c.417+9T>G	WASHC5	Single nucleotide variant (intron 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 2926987	NM_014846.4(WASHC5):c.1151-16C>T	WASHC5	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome +1 more	GLikely benign
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 2926285	NM_014846.4(WASHC5):c.633T>G (p.Tyr211Ter)	WASHC5 (Y211* +1 more)	Single nucleotide variant (nonsense)	Ritscher-Schinzel syndrome +1 more	GPathogenic
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 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 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 2924837	NM_014846.4(WASHC5):c.1941C>T (p.His647=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 2924808	NM_014846.4(WASHC5):c.1450T>C (p.Leu484=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 2924746	NM_014846.4(WASHC5):c.2017-16T>A	WASHC5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 2924485	NM_014846.4(WASHC5):c.683G>A (p.Arg228Gln)	WASHC5 (R80Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 2924255	NM_014846.4(WASHC5):c.1413C>T (p.Asn471=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 2923754	NM_014846.4(WASHC5):c.978+20C>T	WASHC5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 2923730	NM_014846.4(WASHC5):c.672G>T (p.Met224Ile)	WASHC5 (M224I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 2923613	NM_014846.4(WASHC5):c.1765-19T>A	WASHC5	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome +1 more	GLikely benign
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 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 2923489	NM_014846.4(WASHC5):c.1991A>C (p.Tyr664Ser)	WASHC5 (Y664S +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
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 2683028	NM_014846.4(WASHC5):c.1060A>G (p.Met354Val)	WASHC5 (M206V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +2 more	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)	not provided +2 more	GUncertain significance
Select item 2627461	NM_014846.4(WASHC5):c.2T>C (p.Met1Thr)	WASHC5 (M1T)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 8	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 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 2505489	NM_014846.4(WASHC5):c.3182-3C>T	WASHC5, LOC126860498	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 8	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 2425993	NC_000008.10:g.(?_126036859)_(126379127_?)dup	NSMCE2, WASHC5	Duplication	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 2425992	NC_000008.10:g.(?_126049459)_(126075913_?)del	WASHC5	Deletion	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 2420772	NM_014846.4(WASHC5):c.786C>T (p.Leu262=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
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 2413339	NM_014846.4(WASHC5):c.81T>C (p.Ala27=)	WASHC5	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 2227429	NM_014846.4(WASHC5):c.2273T>C (p.Ile758Thr)	WASHC5 (I758T +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +2 more	GUncertain significance
Select item 2194537	NM_014846.4(WASHC5):c.1074T>C (p.Asn358=)	WASHC5	Single nucleotide variant (synonymous variant)	Ritscher-Schinzel syndrome +1 more	GLikely benign
Select item 2191335	NM_014846.4(WASHC5):c.1688+5T>G	WASHC5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 2191263	NM_014846.4(WASHC5):c.1089G>A (p.Leu363=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 2184783	NM_014846.4(WASHC5):c.712-7A>G	WASHC5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 2183005	NM_014846.4(WASHC5):c.1378G>T (p.Val460Leu)	WASHC5 (V312L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 2182970	NM_014846.4(WASHC5):c.733G>C (p.Glu245Gln)	WASHC5 (E97Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	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 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 2162172	NM_014846.4(WASHC5):c.1278+13G>T	WASHC5	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome +1 more	GLikely benign
Select item 2161591	NM_014846.4(WASHC5):c.88T>C (p.Leu30=)	WASHC5	Single nucleotide variant (synonymous variant +1 more)	Ritscher-Schinzel syndrome +1 more	GLikely benign
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 2157072	NM_014846.4(WASHC5):c.1764+14A>G	WASHC5	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome +1 more	GLikely benign
Select item 2154174	NM_014846.4(WASHC5):c.1689-19G>A	WASHC5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 2153333	NM_014846.4(WASHC5):c.1473T>C (p.Ser491=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 2149015	NM_014846.4(WASHC5):c.1956G>T (p.Val652=)	WASHC5	Single nucleotide variant (synonymous variant)	Ritscher-Schinzel syndrome +1 more	GLikely benign
Select item 2146790	NM_014846.4(WASHC5):c.1140A>G (p.Thr380=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 2146344	NM_014846.4(WASHC5):c.375C>G (p.Thr125=)	WASHC5	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 2144099	NM_014846.4(WASHC5):c.1580C>T (p.Thr527Ile)	WASHC5 (T379I +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 2136892	NM_014846.4(WASHC5):c.712-15G>A	WASHC5	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome +1 more	GLikely benign
Select item 2136707	NM_014846.4(WASHC5):c.1749A>C (p.Arg583Ser)	WASHC5 (R435S +1 more)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 2131776	NM_014846.4(WASHC5):c.2034T>C (p.His678=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 2126849	NM_014846.4(WASHC5):c.2647A>G (p.Met883Val)	WASHC5, WASHC5-AS1 (M735V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 2109429	NM_014846.4(WASHC5):c.1005A>G (p.Glu335=)	WASHC5	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 2106569	NM_014846.4(WASHC5):c.50G>C (p.Arg17Thr)	WASHC5 (R17T)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 8 +1 more	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 2085762	NM_014846.4(WASHC5):c.778G>A (p.Val260Met)	WASHC5 (V112M +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 2084402	NM_014846.4(WASHC5):c.990T>C (p.Tyr330=)	WASHC5	Single nucleotide variant (synonymous variant)	Ritscher-Schinzel syndrome +1 more	GLikely benign
Select item 2077744	NM_014846.4(WASHC5):c.1522-20A>G	WASHC5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 8 +1 more	GLikely benign
Select item 2075308	NM_014846.4(WASHC5):c.2199+15_2199+16delinsTG	WASHC5	Indel (intron variant)	Ritscher-Schinzel syndrome +1 more	GUncertain significance
Select item 2070722	NM_014846.4(WASHC5):c.1543G>C (p.Glu515Gln)	WASHC5 (E515Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance
Select item 2069713	NM_014846.4(WASHC5):c.2255A>G (p.His752Arg)	WASHC5 (H604R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8 +1 more	GUncertain significance

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