ClinVar for MedGen (Select 908188) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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_001145536.2(C17orf107):c.*386del	C17orf107, CHRNE	Deletion (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3020603	NM_001145536.2(C17orf107):c.*1897A>T	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	LOC130060041, CHRNE	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_001145536.2(C17orf107):c.*670G>A	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3013579	NM_001145536.2(C17orf107):c.*2244A>G	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_001145536.2(C17orf107):c.*1383G>A	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3009435	NM_001145536.2(C17orf107):c.*671G>C	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_001145536.2(C17orf107):c.*978G>C	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_001145536.2(C17orf107):c.*245G>A	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=)	CHRNE, C17orf107	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2997470	NM_001145536.2(C17orf107):c.*661C>A	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_001145536.2(C17orf107):c.*674C>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2994192	NM_001145536.2(C17orf107):c.*2078G>A	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 (missense 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_001145536.2(C17orf107):c.*244G>A	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2987807	NM_001145536.2(C17orf107):c.*1799G>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2985655	NM_001145536.2(C17orf107):c.*1109G>A	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_001145536.2(C17orf107):c.388_397dup	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)	Congenital myasthenic syndrome 4A	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_001145536.2(C17orf107):c.*1558T>C	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2964927	NM_001145536.2(C17orf107):c.-162A>G	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)	CHRNE, LOC130060041 (P358fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 2962101	NM_001145536.2(C17orf107):c.*1107C>T	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2960452	NM_001145536.2(C17orf107):c.*1567G>A	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_001145536.2(C17orf107):c.*2076G>A	CHRNE, C17orf107	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 (missense variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2918413	NM_001145536.2(C17orf107):c.*386G>C	C17orf107, CHRNE	Single nucleotide variant (intron 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_001145536.2(C17orf107):c.*973del	C17orf107, CHRNE	Deletion (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2917214	NM_001145536.2(C17orf107):c.*247G>A	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2917156	NM_001145536.2(C17orf107):c.-164G>A	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_001145536.2(C17orf107):c.*675G>A	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2913110	NM_001145536.2(C17orf107):c.*2241G>A	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2912284	NM_001145536.2(C17orf107):c.*668G>T	C17orf107, CHRNE	Single nucleotide variant (intron variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2911600	NM_001145536.2(C17orf107):c.*1978G>C	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_001145536.2(C17orf107):c.-169G>A	C17orf107, CHRNE	Single nucleotide variant (intron variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2910506	NM_001145536.2(C17orf107):c.*1798G>C	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_001145536.2(C17orf107):c.*386G>A	C17orf107, CHRNE	Single nucleotide variant (intron 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_001145536.2(C17orf107):c.*1574G>C	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2904669	NM_001145536.2(C17orf107):c.*2081dup	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_001145536.2(C17orf107):c.-165G>A	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_001145536.2(C17orf107):c.*978G>A	C17orf107, CHRNE	Single nucleotide variant (intron variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2896968	NM_001145536.2(C17orf107):c.*442G>C	C17orf107, CHRNE	Single nucleotide variant (intron 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
Select item 2892875	NM_001145536.2(C17orf107):c.*240C>T	C17orf107, CHRNE	Single nucleotide variant (intron variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2892495	NM_000080.4(CHRNE):c.1085C>A (p.Ala362Asp)	CHRNE, LOC130060041 (A362D)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2892172	NM_000080.4(CHRNE):c.829A>G (p.Ile277Val)	C17orf107, CHRNE (I277V)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2892164	NM_001145536.2(C17orf107):c.*1097G>A	C17orf107, CHRNE	Single nucleotide variant (intron variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2891145	NM_000080.4(CHRNE):c.1302G>A (p.Thr434=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2890721	NM_000080.4(CHRNE):c.1387C>T (p.Leu463=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2888972	NM_000080.4(CHRNE):c.790C>T (p.Leu264=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2888297	NM_001145536.2(C17orf107):c.*1810G>A	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2887367	NM_000080.4(CHRNE):c.1158G>A (p.Leu386=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2887154	NM_001145536.2(C17orf107):c.*671G>A	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2886274	NM_000080.4(CHRNE):c.1326+14C>T	CHRNE	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2885019	NM_000080.4(CHRNE):c.1023G>T (p.Arg341=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign

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