ClinVar for MedGen (Select 908188) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377441	NM_000080.4(CHRNE):c.469T>C (p.Phe157Leu)	C17orf107, CHRNE (F157L)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 3243048	NC_000017.10:g.(?_4801070)_(4804202_?)del	C17orf107, CHRNE +1 more	Deletion	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 3243047	NC_000017.10:g.(?_4804800)_(4805809_?)dup	C17orf107, CHRNE	Duplication	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 3243046	NC_000017.10:g.(?_4804937)_(4805847_?)del	C17orf107, CHRNE	Deletion	Congenital myasthenic syndrome 4A	GPathogenic
Select item 3243045	NC_000017.10:g.(?_4804068)_(4806078_?)del	C17orf107, CHRNE	Deletion	Congenital myasthenic syndrome 4A	GPathogenic
Select item 3241172	NM_000080.4(CHRNE):c.1032+2T>A	CHRNE	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 3241171	NM_000080.4(CHRNE):c.1219+1G>A	CHRNE, LOC130060040	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 3241170	NM_000080.4(CHRNE):c.217_227delinsTTGG (p.Ser73fs)	C17orf107, CHRNE (S73fs)	Indel (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 3241169	NM_000080.4(CHRNE):c.1326+1G>T	CHRNE	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 3241168	NM_000080.4(CHRNE):c.1327-1G>A	CHRNE	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 3241167	NM_000080.4(CHRNE):c.510_511del (p.Tyr171fs)	C17orf107, CHRNE (Y171fs)	Deletion (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 3241165	NM_000080.4(CHRNE):c.1327-2A>T	CHRNE	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 3023629	NM_000080.4(CHRNE):c.1164G>A (p.Lys388=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3023471	NM_000080.4(CHRNE):c.803-12del	C17orf107, CHRNE	Deletion (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3020603	NM_000080.4(CHRNE):c.234+20T>A	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 3020584	NM_000080.4(CHRNE):c.543C>T (p.Ala181=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3019257	NM_000080.4(CHRNE):c.1033-13G>A	CHRNE, LOC130060041	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3018461	NM_000080.4(CHRNE):c.27G>A (p.Leu9=)	CHRNE, C17orf107	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3018025	NM_000080.4(CHRNE):c.1033-11C>T	CHRNE, LOC130060041	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3015542	NM_000080.4(CHRNE):c.1038C>A (p.Leu346=)	CHRNE, LOC130060041	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3014106	NM_000080.4(CHRNE):c.602-13C>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3013579	NM_000080.4(CHRNE):c.47-14T>C	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3011421	NM_000080.4(CHRNE):c.1379G>A (p.Trp460Ter)	CHRNE (W460*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 3009772	NM_000080.4(CHRNE):c.1032+7G>A	CHRNE	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3009724	NM_000080.4(CHRNE):c.500+16C>T	CHRNE, C17orf107	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3009435	NM_000080.4(CHRNE):c.602-14C>G	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3007378	NM_000080.4(CHRNE):c.1032+11A>G	CHRNE	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3007360	NM_000080.4(CHRNE):c.601+14C>G	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3006547	NM_000080.4(CHRNE):c.780C>A (p.Leu260=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3005918	NM_000080.4(CHRNE):c.540T>C (p.Phe180=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3005833	NM_000080.4(CHRNE):c.720G>A (p.Pro240=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3002869	NM_000080.4(CHRNE):c.917+15C>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3002266	NM_000080.4(CHRNE):c.387C>A (p.Leu129=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3001893	NM_000080.4(CHRNE):c.1028G>T (p.Arg343Leu)	CHRNE (R343L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2998614	NM_000080.4(CHRNE):c.744C>G (p.Ile248Met)	C17orf107, CHRNE (I248M)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2998510	NM_000080.4(CHRNE):c.1220-14G>A	CHRNE	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2997912	NM_000080.4(CHRNE):c.267G>A (p.Lys89=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2997566	NM_000080.4(CHRNE):c.363A>G (p.Gly121=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2997470	NM_000080.4(CHRNE):c.602-4G>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2996353	NM_000080.4(CHRNE):c.1220-19C>A	CHRNE	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2996336	NM_000080.4(CHRNE):c.602-17G>A	CHRNE, C17orf107	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2994192	NM_000080.4(CHRNE):c.189+10C>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2993370	NM_000080.4(CHRNE):c.1179C>T (p.Leu393=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2991968	NM_000080.4(CHRNE):c.1327-6C>T	CHRNE	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2991010	NM_000080.4(CHRNE):c.181A>G (p.Ile61Val)	C17orf107, CHRNE (I61V)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2989845	NM_000080.4(CHRNE):c.802+1G>A	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 2989384	NM_000080.4(CHRNE):c.917+16C>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2987807	NM_000080.4(CHRNE):c.235-6C>A	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2985655	NM_000080.4(CHRNE):c.501-17C>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2983124	NM_000080.4(CHRNE):c.348T>C (p.Ile116=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2982792	NM_000080.4(CHRNE):c.1039C>T (p.Leu347=)	CHRNE, LOC130060041	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2982460	NM_000080.4(CHRNE):c.400G>A (p.Gly134Ser)	C17orf107, CHRNE (G134S)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2982256	NM_000080.4(CHRNE):c.803-17_803-8dup	C17orf107, CHRNE	Duplication (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2982227	NM_000080.4(CHRNE):c.281G>T (p.Gly94Val)	C17orf107, CHRNE (G94V)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2977602	NM_000080.4(CHRNE):c.630C>T (p.Cys210=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2977156	NM_000080.4(CHRNE):c.1401C>T (p.Ser467=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2975509	NM_000080.4(CHRNE):c.1219+15C>T	CHRNE, LOC130060040	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2973929	NM_000080.4(CHRNE):c.1032+14G>A	CHRNE	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2973020	NM_000080.4(CHRNE):c.380A>C (p.Asn127Thr)	C17orf107, CHRNE (N127T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2972181	NM_000080.4(CHRNE):c.216T>G (p.Thr72=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2969085	NM_000080.4(CHRNE):c.883C>G (p.Pro295Ala)	C17orf107, CHRNE (P295A)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2968116	NM_000080.4(CHRNE):c.345-4A>G	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2964927	NM_000080.4(CHRNE):c.918-19T>C	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2963044	NM_000080.4(CHRNE):c.1070dup (p.Pro358fs)	LOC130060041, CHRNE (P358fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 2962101	NM_000080.4(CHRNE):c.501-15G>A	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2960452	NM_000080.4(CHRNE):c.345-13C>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2959772	NM_000080.4(CHRNE):c.1220-4C>A	CHRNE	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2920093	NM_000080.4(CHRNE):c.189+12C>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2920063	NM_000080.4(CHRNE):c.1311G>A (p.Gln437=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2918789	NM_000080.4(CHRNE):c.550A>T (p.Asn184Tyr)	C17orf107, CHRNE (N184Y)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2918413	NM_000080.4(CHRNE):c.803-12C>G	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2917564	NM_000080.4(CHRNE):c.1219+12G>A	CHRNE, LOC130060040	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2917537	NM_000080.4(CHRNE):c.601+19del	C17orf107, CHRNE	Deletion (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2917214	NM_000080.4(CHRNE):c.917+13C>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2917156	NM_000080.4(CHRNE):c.918-17C>T	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2914531	NM_000080.4(CHRNE):c.46+3A>G	C17orf107, CHRNE	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2914340	NM_000080.4(CHRNE):c.602-18C>T	CHRNE, C17orf107	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2913110	NM_000080.4(CHRNE):c.47-11C>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2912284	NM_000080.4(CHRNE):c.602-11C>A	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2911600	NM_000080.4(CHRNE):c.190-17C>G	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2911559	NM_000080.4(CHRNE):c.1016C>T (p.Ser339Phe)	CHRNE (S339F)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2910691	NM_000080.4(CHRNE):c.918-12C>T	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2910506	NM_000080.4(CHRNE):c.235-5C>G	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2909841	NM_000080.4(CHRNE):c.316T>C (p.Trp106Arg)	C17orf107, CHRNE (W106R)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2909410	NM_000080.4(CHRNE):c.924T>G (p.Leu308=)	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2909192	NM_000080.4(CHRNE):c.803-12C>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2909124	NM_000080.4(CHRNE):c.261C>T (p.Tyr87=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2908589	NM_000080.4(CHRNE):c.1068C>A (p.Ser356=)	CHRNE, LOC130060041	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2907255	NM_000080.4(CHRNE):c.1219+23G>A	CHRNE, LOC130060040	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2906395	NM_000080.4(CHRNE):c.345-20C>G	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2904669	NM_000080.4(CHRNE):c.189+7dup	C17orf107, CHRNE	Duplication (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2903183	NM_000080.4(CHRNE):c.666C>G (p.Thr222=)	CHRNE, C17orf107	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2902713	NM_000080.4(CHRNE):c.1027C>A (p.Arg343Ser)	CHRNE (R343S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2901521	NM_000080.4(CHRNE):c.918-16C>T	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2899878	NM_000080.4(CHRNE):c.1067C>T (p.Ser356Phe)	CHRNE, LOC130060041 (S356F)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2897925	NM_000080.4(CHRNE):c.1219+16C>T	CHRNE, LOC130060040	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2897229	NM_000080.4(CHRNE):c.601+14C>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2896968	NM_000080.4(CHRNE):c.802+15C>G	CHRNE, C17orf107	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2894486	NM_000080.4(CHRNE):c.1242C>G (p.Gly414=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2894251	NM_000080.4(CHRNE):c.1185T>C (p.Phe395=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign

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