ClinVar for Gene (Select 8292) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362531	NM_005677.4(COLQ):c.738del (p.Val247fs)	COLQ (V213fs +2 more)	Deletion (frameshift variant)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 3340941	NC_000003.12:g.15521783CT[1]	COLQ	Microsatellite	not provided	GLikely benign
Select item 3338446	GRCh37/hg19 3p25.1(chr3:15529661-15531195)x0	COLQ	Copy number loss	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 3268910	NM_005677.4(COLQ):c.1079C>A (p.Thr360Asn)	COLQ (T350N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268909	NM_005677.4(COLQ):c.643A>G (p.Met215Val)	COLQ (M215V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268908	NM_005677.4(COLQ):c.673G>C (p.Gly225Arg)	COLQ (G215R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246896	NC_000003.11:g.(?_15497386)_(15498106_?)del	COLQ	Deletion	Congenital myasthenic syndrome 5	GPathogenic
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3241190	NM_005677.4(COLQ):c.955-1G>C	COLQ	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 3241189	NM_005677.4(COLQ):c.40C>T (p.Gln14Ter)	COLQ (Q14*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 3241187	NM_005677.4(COLQ):c.247_266del (p.Met83fs)	COLQ (M73fs +1 more)	Deletion (frameshift variant +1 more)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 3241186	NM_005677.4(COLQ):c.556G>T (p.Gly186Ter)	COLQ (G152* +2 more)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 3241185	NM_005677.4(COLQ):c.188del (p.Pro63fs)	COLQ (P53fs +1 more)	Deletion (frameshift variant)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 3233577	NM_005677.4(COLQ):c.1228C>A (p.Arg410=)	COLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3147904	NM_005677.4(COLQ):c.946G>A (p.Val316Ile)	COLQ (V282I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147903	NM_005677.4(COLQ):c.931C>T (p.Pro311Ser)	COLQ (P301S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064157	NM_005677.4(COLQ):c.1250G>A (p.Cys417Tyr)	COLQ (C383Y +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 3064097	NM_005677.4(COLQ):c.865G>T (p.Gly289Ter)	COLQ (G255* +2 more)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 5	GPathogenic
Select item 3063566	NM_005677.4(COLQ):c.1340A>T (p.Asp447Val)	COLQ (D413V +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062686	GRCh37/hg19 3p25.1(chr3:15501275-15607316)x1	COLQ, HACL1	Copy number loss	not specified	GUncertain significance
Select item 3023623	NM_005677.4(COLQ):c.1026C>A (p.Asp342Glu)	COLQ (D308E +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 3016610	NM_005677.4(COLQ):c.87C>T (p.Ser29=)	COLQ	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2911270	NM_005677.4(COLQ):c.321+7G>T	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2910166	NM_005677.4(COLQ):c.847G>T (p.Gly283Ter)	COLQ (G273* +2 more)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 5	GPathogenic
Select item 2908077	NM_005677.4(COLQ):c.1209C>G (p.Ala403=)	COLQ	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2905755	NM_005677.4(COLQ):c.1298+7A>T	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2891324	NM_005677.4(COLQ):c.528+18A>G	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2879721	NM_005677.4(COLQ):c.165G>T (p.Thr55=)	COLQ	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2876087	NM_005677.4(COLQ):c.759G>A (p.Lys253=)	COLQ	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2873493	NM_005677.4(COLQ):c.394-19T>C	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2867272	NM_005677.4(COLQ):c.408C>T (p.Pro136=)	COLQ	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2864525	NM_005677.4(COLQ):c.366+15T>C	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2864320	NM_005677.4(COLQ):c.601-12C>T	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2838277	NM_005677.4(COLQ):c.815-1064del	COLQ	Deletion (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2818783	NM_005677.4(COLQ):c.718-14T>C	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2811948	NM_005677.4(COLQ):c.717+16C>A	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2805793	NM_005677.4(COLQ):c.106+11G>A	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2761801	NM_005677.4(COLQ):c.1200T>C (p.Cys400=)	COLQ	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2735020	NM_005677.4(COLQ):c.555+16G>C	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2730267	NM_005677.4(COLQ):c.1196-17T>A	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2723792	NM_005677.4(COLQ):c.637-11C>T	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2716578	NM_005677.4(COLQ):c.118del (p.Leu40fs)	COLQ (L30fs +1 more)	Deletion (frameshift variant)	Congenital myasthenic syndrome 5	GPathogenic
Select item 2706857	NM_005677.4(COLQ):c.1221T>C (p.Asp407=)	COLQ	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2688854	NM_005677.4(COLQ):c.683G>T (p.Gly228Val)	COLQ (G194V +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 2687843	NM_005677.4(COLQ):c.700G>A (p.Gly234Arg)	COLQ (G200R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2680874	NM_005677.4(COLQ):c.124C>T (p.Gln42Ter)	COLQ (Q32* +1 more)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 2680873	NM_005677.4(COLQ):c.322-1G>C	COLQ	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 2680871	NM_005677.4(COLQ):c.555+1G>T	COLQ	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 2680870	NM_005677.4(COLQ):c.589A>T (p.Lys197Ter)	COLQ (K163* +2 more)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 2680869	NM_005677.4(COLQ):c.528+1G>A	COLQ	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 2680868	NM_005677.4(COLQ):c.319dup (p.Gln107fs)	COLQ (Q107fs +1 more)	Duplication (frameshift variant +1 more)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 2680867	NM_005677.4(COLQ):c.466-1G>A	COLQ	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 2680866	NM_005677.4(COLQ):c.1054_1063del (p.Leu352fs)	COLQ (L318fs +2 more)	Deletion (frameshift variant)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 2680864	NM_005677.4(COLQ):c.95del (p.Pro32fs)	COLQ (P32fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 2680863	NM_005677.4(COLQ):c.268C>T (p.Gln90Ter)	COLQ (Q80* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 2680862	NM_005677.4(COLQ):c.1331G>A (p.Cys444Tyr)	COLQ (C410Y +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 2680861	NM_005677.4(COLQ):c.319C>T (p.Gln107Ter)	COLQ (Q107* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 2680859	NM_005677.4(COLQ):c.201del (p.Phe67fs)	COLQ (F57fs +1 more)	Deletion (frameshift variant)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 2680858	NM_005677.4(COLQ):c.706C>T (p.Arg236Ter)	COLQ (R202* +2 more)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 5	GPathogenic
Select item 2680857	NM_005677.4(COLQ):c.992_998del (p.Leu331fs)	COLQ (L297fs +2 more)	Deletion (frameshift variant)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 2680856	NM_005677.4(COLQ):c.631C>T (p.Gln211Ter)	COLQ (Q177* +2 more)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 5	GPathogenic
Select item 2680854	NM_005677.4(COLQ):c.19del (p.Pro6_Met7insTer)	COLQ	Deletion (nonsense)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 2680853	NM_005677.4(COLQ):c.839_845dup (p.Phe284fs)	COLQ (F250fs +2 more)	Duplication (frameshift variant)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 2680852	NM_005677.4(COLQ):c.814+1G>A	COLQ	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 2671287	NM_005677.4(COLQ):c.955-2A>C	COLQ	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome 5	GPathogenic/Likely pathogenic
Select item 2613525	NM_005677.4(COLQ):c.910T>C (p.Tyr304His)	COLQ (Y294H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611491	NM_005677.4(COLQ):c.640G>A (p.Glu214Lys)	COLQ (E180K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579192	GRCh38/hg38 3p25.1(chr3:15488109-15489735)x0	COLQ	Copy number loss	Congenital myasthenic syndrome 5	GPathogenic
Select item 2576521	NM_005677.4(COLQ):c.827_843del (p.Met276fs)	COLQ (M242fs +2 more)	Deletion (frameshift variant)	Synaptic congenital myasthenic syndromes	GLikely pathogenic
Select item 2576520	NM_005677.4:c.188_321del	COLQ	Deletion	Synaptic congenital myasthenic syndromes	GPathogenic
Select item 2576519	NM_005677.4(COLQ):c.1076T>G (p.Leu359Arg)	COLQ (L325R +2 more)	Single nucleotide variant (missense variant)	Synaptic congenital myasthenic syndromes	GUncertain significance
Select item 2576518	NM_005677.4(COLQ):c.815G>A (p.Gly272Glu)	COLQ (G238E +2 more)	Single nucleotide variant (missense variant)	Synaptic congenital myasthenic syndromes	GPathogenic
Select item 2576517	NM_005677.4(COLQ):c.1132G>C (p.Gly378Arg)	COLQ (G344R +2 more)	Single nucleotide variant (missense variant)	Synaptic congenital myasthenic syndromes	GUncertain significance
Select item 2536799	NM_005677.4(COLQ):c.1036C>A (p.Leu346Met)	COLQ (L336M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501174	NM_005677.4(COLQ):c.870_871del (p.Cys291fs)	COLQ (C257fs +2 more)	Deletion (frameshift variant)	Congenital myasthenic syndrome	GLikely pathogenic
Select item 2482858	NM_005677.4(COLQ):c.1088A>G (p.Tyr363Cys)	COLQ (Y353C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481942	NM_005677.4(COLQ):c.253G>A (p.Glu85Lys)	COLQ (E75K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2446651	NM_005677.4(COLQ):c.574G>A (p.Gly192Ser)	COLQ (G158S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444318	NM_005677.4(COLQ):c.109del (p.Leu37fs)	COLQ (L27fs +1 more)	Deletion (frameshift variant)	Congenital myasthenic syndrome 5	GPathogenic
Select item 2440509	NM_005677.4(COLQ):c.1255G>A (p.Gly419Ser)	COLQ (G385S +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 2440508	NM_005677.4(COLQ):c.79A>G (p.Ile27Val)	COLQ (I27V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 2440507	NM_005677.4(COLQ):c.779C>G (p.Pro260Arg)	COLQ (P226R +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 2440506	NM_005677.4(COLQ):c.329C>T (p.Pro110Leu)	COLQ (P100L +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 2440505	NM_005677.4(COLQ):c.869G>A (p.Arg290Lys)	COLQ (R256K +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5 +1 more	GUncertain significance
Select item 2435808	NM_005677.4(COLQ):c.241_242dup (p.Asn81fs)	COLQ (N71fs +1 more)	Duplication (frameshift variant +1 more)	Congenital myasthenic syndrome 5	GPathogenic
Select item 2425396	NC_000003.11:g.(?_15493151)_(15563132_?)dup	COLQ	Duplication	Congenital myasthenic syndrome 5	GUncertain significance
Select item 2422279	NC_000003.11:g.(?_15512023)_(15687154_?)del	BTD, COLQ +1 more	Deletion	Biotinidase deficiency	GPathogenic
Select item 2421993	NM_005677.4(COLQ):c.175C>T (p.Pro59Ser)	COLQ (P49S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GPathogenic/Likely pathogenic
Select item 2420701	NM_005677.4(COLQ):c.556-15A>T	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2414389	NM_005677.4(COLQ):c.814+12dup	COLQ	Duplication (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2336938	NM_005677.4(COLQ):c.1013C>T (p.Ala338Val)	COLQ (A304V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212406	NM_005677.4(COLQ):c.155G>A (p.Cys52Tyr)	COLQ (C42Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203311	NM_005677.4(COLQ):c.176C>A (p.Pro59Gln)	COLQ (P59Q +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 2203310	NM_005677.4(COLQ):c.1318T>C (p.Cys440Arg)	COLQ (C430R +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 2197009	NM_005677.4(COLQ):c.1196-19C>A	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2193048	NM_005677.4(COLQ):c.209G>T (p.Gly70Val)	COLQ (G60V +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5 +1 more	GUncertain significance
Select item 2187752	NM_005677.4(COLQ):c.1195+17C>T	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2172188	NM_005677.4(COLQ):c.804C>T (p.Pro268=)	COLQ	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 5	GLikely benign

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