ClinVar for MedGen (Select 400481) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2579192	GRCh38/hg38 3p25.1(chr3:15488109-15489735)x0	COLQ	Copy number loss	Congenital myasthenic syndrome 5	GPathogenic
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	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 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 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)	Inborn genetic diseases +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
Select item 2169226	NM_005677.4(COLQ):c.323G>A (p.Gly108Asp)	COLQ (G108D +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 2162978	NM_005677.4(COLQ):c.823A>G (p.Ile275Val)	COLQ (I275V +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 2155240	NM_005677.4(COLQ):c.814+12A>G	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2153319	NM_005677.4(COLQ):c.1195+17C>A	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2133143	NM_005677.4(COLQ):c.502G>T (p.Gly168Trp)	COLQ (G158W +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 2123505	NM_005677.4(COLQ):c.1214G>C (p.Cys405Ser)	COLQ (C371S +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 2115576	NM_005677.4(COLQ):c.311C>A (p.Pro104His)	COLQ (P104H +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 2102143	NM_005677.4(COLQ):c.25T>C (p.Leu9=)	COLQ	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2099885	NM_005677.4(COLQ):c.717+9C>T	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2097308	NM_005677.4(COLQ):c.292C>T (p.Leu98=)	COLQ	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2090183	NM_005677.4(COLQ):c.235A>G (p.Met79Val)	COLQ (M79V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 2086252	NM_005677.4(COLQ):c.163A>G (p.Thr55Ala)	COLQ (T55A +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 2083253	NM_005677.4(COLQ):c.871T>G (p.Cys291Gly)	COLQ (C257G +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 2080522	NM_005677.4(COLQ):c.856G>A (p.Gly286Arg)	COLQ (G252R +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5 +1 more	GUncertain significance
Select item 2072315	NM_005677.4(COLQ):c.466-14T>C	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2048545	NM_005677.4(COLQ):c.322-15A>G	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2044203	NM_005677.4(COLQ):c.1005C>T (p.Asn335=)	COLQ	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2033056	NM_005677.4(COLQ):c.1209C>T (p.Ala403=)	COLQ	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2030706	NM_005677.4(COLQ):c.529-4T>G	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2024146	NM_005677.4(COLQ):c.1152G>A (p.Glu384=)	COLQ	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2018622	NM_005677.4(COLQ):c.682G>T (p.Gly228Ter)	COLQ (G218* +2 more)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 5	GPathogenic
Select item 2017940	NM_005677.4(COLQ):c.165G>C (p.Thr55=)	COLQ	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2017269	NM_005677.4(COLQ):c.109dup (p.Leu37fs)	COLQ (L37fs +1 more)	Duplication (frameshift variant)	Congenital myasthenic syndrome 5	GPathogenic
Select item 2009250	NM_005677.4(COLQ):c.636+8A>G	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 2002187	NM_005677.4(COLQ):c.220-19G>A	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 1996419	NM_005677.4(COLQ):c.688A>G (p.Thr230Ala)	COLQ (T196A +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 1995334	NM_005677.4(COLQ):c.637-19T>A	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 1989478	NM_005677.4(COLQ):c.783C>A (p.Gly261=)	COLQ	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 1988353	NM_005677.4(COLQ):c.466-4A>G	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 1986219	NM_005677.4(COLQ):c.382C>G (p.Pro128Ala)	COLQ (P118A +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 1983930	NM_005677.4(COLQ):c.924G>A (p.Val308=)	COLQ	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 1980492	NM_005677.4(COLQ):c.106+18C>G	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 1968788	NM_005677.4(COLQ):c.518T>C (p.Met173Thr)	COLQ (M173T +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 1951330	NM_005677.4(COLQ):c.1345A>G (p.Thr449Ala)	COLQ (T415A +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 1948943	NM_005677.4(COLQ):c.70C>A (p.Pro24Thr)	COLQ (P24T)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance

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