8292[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	LOC132088880, LOC132088882 +214 more	Copy number gain	See cases	GPathogenic
Select item 155336	GRCh38/hg38 3p25.1-24.3(chr3:15304910-16372771)x3	ANKRD28, BTD +43 more	Copy number gain	See cases	GLikely benign
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 +1 more	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 +1 more	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)	not provided +1 more	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 +1 more	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)	not provided +1 more	GBenign
Select item 343840	NM_005677.4(COLQ):c.*344C>T	COLQ	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	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 861918	NM_005677.4(COLQ):c.1354C>T (p.Arg452Cys)	COLQ (R442C +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1512627	NM_005677.4(COLQ):c.1352G>A (p.Cys451Tyr)	COLQ (C451Y +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 194751	NM_005677.4(COLQ):c.1350C>T (p.Pro450=)	COLQ	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1425604	NM_005677.4(COLQ):c.1348C>T (p.Pro450Ser)	COLQ (P416S +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 1175121	NM_005677.4(COLQ):c.1346C>T (p.Thr449Met)	COLQ (T415M +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 1034202	NM_005677.4(COLQ):c.1346del (p.Thr449fs)	COLQ (T415fs +2 more)	Deletion (frameshift 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 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 652725	NM_005677.4(COLQ):c.1339G>A (p.Asp447Asn)	COLQ (D413N +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 1146858	NM_005677.4(COLQ):c.1338C>T (p.Ile446=)	COLQ	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 567550	NM_005677.4(COLQ):c.1338C>G (p.Ile446Met)	COLQ (I446M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 259855	NM_005677.4(COLQ):c.1338C>A (p.Ile446=)	COLQ	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 1503336	NM_005677.4(COLQ):c.1324_1326del (p.Gln442del)	COLQ (Q432del +2 more)	Deletion (inframe_deletion)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 447217	NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala)	COLQ (T441A +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 1679828	NM_005677.4(COLQ):c.1319G>A (p.Cys440Tyr)	COLQ (C406Y +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
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 1946777	NM_005677.4(COLQ):c.1313T>C (p.Leu438Pro)	COLQ (L428P +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 1057288	NM_005677.4(COLQ):c.1299G>A (p.Gly433=)	COLQ	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 1093418	NM_005677.4(COLQ):c.1299-5C>T	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 1082977	NM_005677.4(COLQ):c.1299-9C>T	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 1530550	NM_005677.4(COLQ):c.1299-15C>A	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 1629657	NM_005677.4(COLQ):c.1299-20C>T	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5	GLikely benign
Select item 259854	NM_005677.4(COLQ):c.1299-31G>A	COLQ	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1703373	NM_005677.4(COLQ):c.1298+190G>A	COLQ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259853	NM_005677.4(COLQ):c.1298+35C>A	COLQ	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 259852	NM_005677.4(COLQ):c.1298+34T>A	COLQ	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1579948	NM_005677.4(COLQ):c.1298+19C>G	COLQ	Single nucleotide variant (intron 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 6656	NM_005677.4(COLQ):c.1298+3A>G	COLQ	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 5 +1 more	GPathogenic
Select item 635761	NM_005677.4(COLQ):c.1298G>A (p.Gly433Glu)	COLQ (G399E +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GLikely pathogenic
Select item 6654	NM_005677.4(COLQ):c.1289A>C (p.Tyr430Ser)	COLQ (Y430S +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome +2 more	GPathogenic
Select item 1035432	NM_005677.4(COLQ):c.1282G>A (p.Glu428Lys)	COLQ (E418K +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 962241	NM_005677.4(COLQ):c.1281C>A (p.Cys427Ter)	COLQ (C417* +2 more)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 5	GPathogenic
Select item 536241	NM_005677.4(COLQ):c.1281C>T (p.Cys427=)	COLQ	Single nucleotide variant (synonymous variant)	Synaptic congenital myasthenic syndromes +1 more	GPathogenic/Likely pathogenic
Select item 422529	NM_005677.4(COLQ):c.1279T>C (p.Cys427Arg)	COLQ (C427R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1169862	NM_005677.4(COLQ):c.1277C>A (p.Thr426Lys)	COLQ (T392K +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GBenign
Select item 992471	NM_005677.4(COLQ):c.1277C>T (p.Thr426Ile)	COLQ (T392I +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GPathogenic
Select item 1180759	NM_005677.4(COLQ):c.1257del (p.Ser420fs)	COLQ (S386fs +2 more)	Deletion (frameshift variant)	Abnormality of the musculature	GLikely pathogenic
Select item 1130454	NM_005677.4(COLQ):c.1257C>T (p.Gly419=)	COLQ	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 5	GLikely benign
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 1611051	NM_005677.4(COLQ):c.1254C>T (p.Asp418=)	COLQ	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 5	GLikely benign
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 128825	NM_005677.4(COLQ):c.1248C>T (p.Asp416=)	COLQ	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 5 +2 more	GBenign
Select item 1910728	NM_005677.4(COLQ):c.1232A>G (p.His411Arg)	COLQ (H377R +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance
Select item 938138	NM_005677.4(COLQ):c.1229G>A (p.Arg410Gln)	COLQ (R376Q +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GPathogenic
Select item 3233577	NM_005677.4(COLQ):c.1228C>A (p.Arg410=)	COLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 381725	NM_005677.4(COLQ):c.1228C>T (p.Arg410Trp)	COLQ (R410W +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome +2 more	GPathogenic
Select item 568622	NM_005677.4(COLQ):c.1225dup (p.His409fs)	COLQ (H375fs +2 more)	Duplication (frameshift variant)	Congenital myasthenic syndrome 5	GPathogenic/Likely pathogenic
Select item 536244	NM_005677.4(COLQ):c.1224T>C (p.Gly408=)	COLQ	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 5	GLikely benign
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 599285	NM_005677.4(COLQ):c.1217G>C (p.Gly406Ala)	COLQ (G406A +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GLikely pathogenic
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 952624	NM_005677.4(COLQ):c.1214G>T (p.Cys405Phe)	COLQ (C395F +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 977752	NM_005677.4(COLQ):c.1212del (p.Cys405fs)	COLQ (C371fs +2 more)	Deletion (frameshift variant)	Congenital myasthenic syndrome 5	GPathogenic
Select item 1390512	NM_005677.4(COLQ):c.1211A>G (p.Tyr404Cys)	COLQ (Y370C +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 5	GUncertain significance

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