Related gene-specific medical variations for Gene (Select 8292) - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246896	NC_000003.11:g.(?_15497386)_(15498106_?)del	COLQ	Deletion	Congenital myasthenic syndrome 5	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 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 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 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 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 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 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 1322155	NM_005677.4(COLQ):c.955-2A>T	COLQ	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome 5	GPathogenic
Select item 1299712	NM_005677.4:c.(814+1_815-1)_(954+1_955-1)del	COLQ	Deletion	Congenital myasthenic syndrome 5	GPathogenic
Select item 992472	NM_005677.4(COLQ):c.1196G>A (p.Arg399His)	COLQ (R365H +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GPathogenic
Select item 688467	GRCh37/hg19 3p25.1(chr3:15538239-15601351)x1	COLQ	Copy number loss	not provided	GUncertain significance
Select item 259852	NM_005677.4(COLQ):c.1298+34T>A	COLQ	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 6648	NM_005677.4:c.107_321del	COLQ	Deletion	Congenital myasthenic syndrome 5	GPathogenic

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Links from Gene

Items: 45