4593[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	LOC126860637, LOC126860638 +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 145648	GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1	LOC132089619, LOC132089620 +310 more	Copy number loss	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	TMEM268, TNC +377 more	Copy number loss	See cases	GPathogenic
Select item 671338	NM_005592.3(MUSK):c.-414C>G	MUSK	Single nucleotide variant	not provided	GBenign
Select item 1699741	NC_000009.12:g.110668644A>G	MUSK	Single nucleotide variant	not provided	GLikely benign
Select item 1187621	NC_000009.12:g.110668647G>A	MUSK	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1213525	NC_000009.12:g.110668649G>A	MUSK	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 364595	NM_005592.4(MUSK):c.-82T>C	MUSK	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 364596	NM_005592.4(MUSK):c.-43G>A	MUSK	Single nucleotide variant (5 prime UTR variant)	Congenital myasthenic syndrome 9	GUncertain significance
Select item 583579	NC_000009.12:g.(?_110668885)_(110801008_?)del	LOC126860730, LOC124310625 +1 more	Deletion	Congenital myasthenic syndrome 9 +1 more	GPathogenic
Select item 2936081	NM_005592.4(MUSK):c.2T>C (p.Met1Thr)	MUSK (M1T)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 9 +1 more	GPathogenic
Select item 2200517	NM_005592.4(MUSK):c.7G>A (p.Glu3Lys)	MUSK (E3K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2943458	NM_005592.4(MUSK):c.12C>G (p.Leu4=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 1582596	NM_005592.4(MUSK):c.12C>A (p.Leu4=)	MUSK	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 476131	NM_005592.4(MUSK):c.12C>T (p.Leu4=)	MUSK	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +3 more	GLikely benign
Select item 1041627	NM_005592.4(MUSK):c.13G>A (p.Val5Ile)	MUSK (V5I)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 849169	NM_005592.4(MUSK):c.17A>G (p.Asn6Ser)	MUSK (N6S)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 2433834	NM_005592.4(MUSK):c.20T>C (p.Ile7Thr)	MUSK (I7T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2018617	NM_005592.4(MUSK):c.31_34del (p.His11fs)	MUSK (H11fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 9 +1 more	GPathogenic
Select item 2928413	NM_005592.4(MUSK):c.30A>G (p.Val10=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2934736	NM_005592.4(MUSK):c.33T>C (p.His11=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 190466	NM_005592.4(MUSK):c.40dup (p.Thr14fs)	MUSK (T14fs)	Duplication (frameshift variant)	Fetal akinesia deformation sequence 1	GPathogenic
Select item 1053029	NM_005592.4(MUSK):c.43C>A (p.Leu15Met)	MUSK (L15M)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 1637155	NM_005592.4(MUSK):c.57C>T (p.Ser19=)	MUSK	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 1393157	NM_005592.4(MUSK):c.58G>A (p.Gly20Arg)	MUSK (G20R)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 1963791	NM_005592.4(MUSK):c.63T>C (p.Thr21=)	MUSK	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 211542	NM_005592.4(MUSK):c.79+2T>G	MUSK	Single nucleotide variant (splice donor variant)	Fetal akinesia deformation sequence 1 +3 more	GPathogenic
Select item 2944717	NM_005592.4(MUSK):c.79+7T>C	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 1033013	NM_005592.4(MUSK):c.79+11G>A	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GConflicting classifications of pathogenicity
Select item 2948534	NM_005592.4(MUSK):c.79+14A>G	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2026236	NM_005592.4(MUSK):c.79+15T>C	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2932439	NM_005592.4(MUSK):c.79+16C>T	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2047810	NM_005592.4(MUSK):c.79+17G>A	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2143653	NM_005592.4(MUSK):c.79+20T>C	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 1288522	NM_005592.4(MUSK):c.80-282_80-281insCTCA	MUSK	Insertion (intron variant)	not provided	GBenign
Select item 671339	NM_005592.4(MUSK):c.80-260A>G	MUSK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2941352	NM_005592.4(MUSK):c.80-19A>T	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2085407	NM_005592.4(MUSK):c.80-15C>A	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2934939	NM_005592.4(MUSK):c.80-7_80-3del	MUSK	Microsatellite (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2952415	NM_005592.4(MUSK):c.80-9T>C	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 364597	NM_005592.4(MUSK):c.80-8C>T	MUSK	Single nucleotide variant (intron variant)	MUSK-related condition +2 more	GBenign/Likely benign
Select item 2050620	NM_005592.4(MUSK):c.80-7C>A	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2953752	NM_005592.4(MUSK):c.81_84del (p.Pro28fs)	MUSK (P28fs)	Deletion (frameshift variant)	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 2048547	NM_005592.4(MUSK):c.83C>T (p.Pro28Leu)	MUSK (P28L)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 2953785	NM_005592.4(MUSK):c.90C>T (p.Ile30=)	MUSK	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2185419	NM_005592.4(MUSK):c.108A>G (p.Thr36=)	MUSK	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 1698375	NM_005592.4(MUSK):c.112G>T (p.Asp38Tyr)	MUSK (D38Y)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1	GLikely pathogenic
Select item 2949331	NM_005592.4(MUSK):c.114T>A (p.Asp38Glu)	MUSK (D38E)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 9 +1 more	GLikely pathogenic
Select item 2946899	NM_005592.4(MUSK):c.117C>T (p.Ala39=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 1987743	NM_005592.4(MUSK):c.119T>C (p.Leu40Ser)	MUSK (L40S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 9 +1 more	GUncertain significance
Select item 1384922	NM_005592.4(MUSK):c.129A>T (p.Glu43Asp)	MUSK (E43D)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 9 +1 more	GUncertain significance
Select item 912937	NM_005592.4(MUSK):c.131T>C (p.Val44Ala)	MUSK (V44A)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 9	GUncertain significance
Select item 2946951	NM_005592.4(MUSK):c.132G>A (p.Val44=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 1371986	NM_005592.4(MUSK):c.133G>C (p.Ala45Pro)	MUSK (A45P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 9 +1 more	GUncertain significance
Select item 1557575	NM_005592.4(MUSK):c.138T>C (p.Thr46=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2929210	NM_005592.4(MUSK):c.141C>T (p.Phe47=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2934316	NM_005592.4(MUSK):c.147T>C (p.Cys49=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 447746	NM_005592.4(MUSK):c.155A>C (p.Glu52Ala)	MUSK (E52A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2948129	NM_005592.4(MUSK):c.166dup (p.Gln56fs)	MUSK (Q56fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 9 +1 more	GPathogenic
Select item 2940829	NM_005592.4(MUSK):c.162C>T (p.Tyr54=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 723556	NM_005592.4(MUSK):c.165C>T (p.Pro55=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2128689	NM_005592.4(MUSK):c.174G>A (p.Glu58=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 743849	NM_005592.4(MUSK):c.198T>C (p.Ile66=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2934900	NM_005592.4(MUSK):c.206+2T>C	MUSK	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 9 +1 more	GLikely pathogenic
Select item 641945	NM_005592.4(MUSK):c.206+5G>A	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GUncertain significance
Select item 1579582	NM_005592.4(MUSK):c.206+9T>C	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 364598	NM_005592.4(MUSK):c.206+10C>T	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GConflicting classifications of pathogenicity
Select item 2086351	NM_005592.4(MUSK):c.206+12A>T	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2928560	NM_005592.4(MUSK):c.206+19_206+23del	MUSK	Deletion (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2171645	NM_005592.4(MUSK):c.206+20A>T	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 259807	NM_005592.4(MUSK):c.206+28A>T	MUSK	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1211152	NM_005592.4(MUSK):c.206+61A>G	MUSK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234589	NM_005592.4(MUSK):c.206+178A>T	MUSK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229056	NM_005592.4(MUSK):c.206+291del	MUSK	Deletion (intron variant)	not provided	GBenign
Select item 671365	NM_005592.4(MUSK):c.206+293C>T	MUSK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673467	NM_005592.4(MUSK):c.207-319G>A	MUSK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683224	NM_005592.4(MUSK):c.207-126G>C	MUSK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259808	NM_005592.4(MUSK):c.207-20T>C	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +2 more	GBenign
Select item 2637676	NM_005592.4(MUSK):c.207-16T>C	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +2 more	GLikely benign
Select item 2942766	NM_005592.4(MUSK):c.207-11G>C	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2921472	NM_005592.4(MUSK):c.207-11G>A	MUSK	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 741753	NM_005592.4(MUSK):c.207-5T>C	MUSK	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GBenign
Select item 2922045	NM_005592.4(MUSK):c.207-1G>A	MUSK	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome 9 +1 more	GLikely pathogenic
Select item 1420891	NM_005592.4(MUSK):c.207A>T (p.Lys69Asn)	MUSK (K69N)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 2933614	NM_005592.4(MUSK):c.210C>A (p.Leu70=)	MUSK	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 9 +1 more	GLikely benign
Select item 2476150	NM_005592.4(MUSK):c.217A>G (p.Thr73Ala)	MUSK (T73A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 8240	NM_005592.4(MUSK):c.220dup (p.Arg74fs)	MUSK (R74fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 9	GPathogenic

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