"Illumina Laboratory Services, Illumina"[submitter] AND "COLQ"[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 343822	NM_005677.4(COLQ):c.*1490A>C	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 903549	NM_005677.4(COLQ):c.*1408C>T	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 343823	NM_005677.4(COLQ):c.*1395C>T	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GBenign
Select item 343824	NM_005677.4(COLQ):c.*1292T>G	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 343825	NM_005677.4(COLQ):c.*1280C>T	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 903550	NM_005677.4(COLQ):c.*1277C>T	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 343826	NM_005677.4(COLQ):c.*1248C>T	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 343827	NM_005677.4(COLQ):c.*1084G>A	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 343828	NM_005677.4(COLQ):c.*1001G>A	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GBenign
Select item 343829	NM_005677.4(COLQ):c.*999G>A	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 343830	NM_005677.4(COLQ):c.*994G>A	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GBenign
Select item 343831	NM_005677.4(COLQ):c.*993C>T	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 343832	NM_005677.4(COLQ):c.*848C>T	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 343833	NM_005677.4(COLQ):c.*751C>T	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 899950	NM_005677.4(COLQ):c.*736A>G	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 899951	NM_005677.4(COLQ):c.*715G>A	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 343834	NM_005677.4(COLQ):c.*516G>A	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 343835	NM_005677.4(COLQ):c.*515C>T	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GBenign
Select item 343836	NM_005677.4(COLQ):c.*492G>A	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GBenign
Select item 901122	NM_005677.4(COLQ):c.*446A>C	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 901123	NM_005677.4(COLQ):c.*426G>A	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 343837	NM_005677.4(COLQ):c.*425C>T	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 343838	NM_005677.4(COLQ):c.*421G>A	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 901124	NM_005677.4(COLQ):c.*407C>T	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 343839	NM_005677.4(COLQ):c.*365A>T	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GBenign
Select item 343840	NM_005677.4(COLQ):c.*344C>T	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GBenign
Select item 901663	NM_005677.4(COLQ):c.*276A>G	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 343841	NM_005677.4(COLQ):c.*257G>A	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 343842	NM_005677.4(COLQ):c.*189C>T	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 901664	NM_005677.4(COLQ):c.*169T>A	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 343843	NM_005677.4(COLQ):c.*85G>A	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 343844	NM_005677.4(COLQ):c.*76C>A	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 343845	NM_005677.4(COLQ):c.*4C>T	COLQ	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 632406	NM_005677.4(COLQ):c.1366T>C (p.Ter456Arg)	COLQ	Single nucleotide variant (stop lost)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 651618	NM_005677.4(COLQ):c.1355G>A (p.Arg452His)	COLQ (R418H +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5 +1 more	GUncertain significance
Select item 259855	NM_005677.4(COLQ):c.1338C>A (p.Ile446=)	COLQ	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 128825	NM_005677.4(COLQ):c.1248C>T (p.Asp416=)	COLQ	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 343846	NM_005677.4(COLQ):c.1081C>T (p.Pro361Ser)	COLQ (P361S +2 more)	Single nucleotide variant (missense variant)	COLQ-related condition +1 more	GBenign/Likely benign
Select item 903619	NM_005677.4(COLQ):c.967A>T (p.Asn323Tyr)	COLQ (N289Y +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 632407	NM_005677.4(COLQ):c.954+1G>A	COLQ	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 5	GConflicting classifications of pathogenicity
Select item 343847	NM_005677.4(COLQ):c.942G>A (p.Pro314=)	COLQ	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 5	GConflicting classifications of pathogenicity
Select item 128827	NM_005677.4(COLQ):c.934A>G (p.Ser312Gly)	COLQ (S312G +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 343848	NM_005677.4(COLQ):c.912C>T (p.Tyr304=)	COLQ	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 5	GConflicting classifications of pathogenicity
Select item 900026	NM_005677.4(COLQ):c.814+11C>T	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GConflicting classifications of pathogenicity
Select item 546931	NM_005677.4(COLQ):c.812C>T (p.Ala271Val)	COLQ (A271V +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5 +1 more	GUncertain significance
Select item 468348	NM_005677.4(COLQ):c.789G>A (p.Pro263=)	COLQ	Single nucleotide variant (synonymous variant)	COLQ-related condition +1 more	GBenign/Likely benign
Select item 343849	NM_005677.4(COLQ):c.788C>T (p.Pro263Leu)	COLQ (P263L +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5 +2 more	GUncertain significance
Select item 343850	NM_005677.4(COLQ):c.785G>A (p.Arg262His)	COLQ (R262H +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 468347	NM_005677.4(COLQ):c.737G>C (p.Gly246Ala)	COLQ (G246A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 900027	NM_005677.4(COLQ):c.718-9C>T	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GConflicting classifications of pathogenicity
Select item 901184	NM_005677.4(COLQ):c.607C>T (p.Pro203Ser)	COLQ (P193S +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 343851	NM_005677.4(COLQ):c.561C>T (p.Ser187=)	COLQ	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 259861	NM_005677.4(COLQ):c.556-15A>G	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5 +1 more	GBenign
Select item 259856	NM_005677.4(COLQ):c.393+11C>T	COLQ	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 343852	NM_005677.4(COLQ):c.389G>A (p.Arg130Lys)	COLQ (R130K +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 631910	NM_005677.4(COLQ):c.379C>T (p.Arg127Ter)	COLQ (R127* +2 more)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 5	GConflicting classifications of pathogenicity
Select item 343853	NM_005677.4(COLQ):c.367-3T>C	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 128826	NM_005677.4(COLQ):c.366+7A>G	COLQ	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 343854	NM_005677.4(COLQ):c.300C>T (p.Ser100=)	COLQ	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 5	GBenign/Likely benign
Select item 196415	NM_005677.4(COLQ):c.291G>A (p.Ser97=)	COLQ	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 661804	NM_005677.4(COLQ):c.290C>T (p.Ser97Leu)	COLQ (S97L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 901737	NM_005677.4(COLQ):c.117C>T (p.Ser39=)	COLQ	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 287047	NM_005677.4(COLQ):c.106+6T>C	COLQ	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 901738	NM_005677.4(COLQ):c.71C>T (p.Pro24Leu)	COLQ (P24L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5 +1 more	GUncertain significance
Select item 281936	NM_005677.4(COLQ):c.23C>G (p.Thr8Ser)	COLQ (T8S)	Single nucleotide variant (missense variant)	COLQ-related condition +3 more	GConflicting classifications of pathogenicity
Select item 835760	NM_005677.4(COLQ):c.19A>G (p.Met7Val)	COLQ (M7V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 343891	NM_005677.4(COLQ):c.-46G>A	COLQ	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 902646	NM_005677.4(COLQ):c.-58A>G	COLQ	Single nucleotide variant (5 prime UTR variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 343892	NM_005677.3(COLQ):c.-96C>T	COLQ	Single nucleotide variant	Congenital Myasthenic Syndrome, Recessive	GUncertain significance
Select item 343893	NM_005677.3(COLQ):c.-120_-119CA[9]	COLQ	Microsatellite	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343894	NM_005677.3(COLQ):c.-124_-121delCACG	COLQ	Deletion	Congenital Myasthenic Syndrome, Recessive	GUncertain significance
Select item 343896	NM_005677.3(COLQ):c.-121_-120insCGCA	COLQ	Insertion	Congenital Myasthenic Syndrome, Recessive	GUncertain significance
Select item 343895	NM_005677.3(COLQ):c.-122_-121dup	COLQ	Duplication	Congenital Myasthenic Syndrome, Recessive	GUncertain significance
Select item 343897	NM_005677.3(COLQ):c.-122_-121delCG	COLQ	Deletion	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343899	NM_005677.3(COLQ):c.-121G>A	COLQ	Single nucleotide variant	Congenital Myasthenic Syndrome, Recessive	GUncertain significance
Select item 343898	NM_005677.3(COLQ):c.-121delGinsACACACGCA	COLQ	Indel	Congenital Myasthenic Syndrome, Recessive	GUncertain significance
Select item 343900	NM_005677.3(COLQ):c.-122C>T	COLQ	Single nucleotide variant	Congenital Myasthenic Syndrome, Recessive	GUncertain significance
Select item 369411	NM_005677.3(COLQ):c.-136_-135delGA	COLQ	Deletion	Congenital Myasthenic Syndrome, Recessive +1 more	GBenign
Select item 369412	NM_005677.3(COLQ):c.-136G>C	COLQ	Single nucleotide variant	Congenital Myasthenic Syndrome, Recessive +1 more	GBenign

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Items: 79