ClinVar for MedGen (Select 908185) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066140	NM_000747.3(CHRNB1):c.1071C>A (p.Tyr357Ter)	CHRNB1 (Y357*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 2A	GLikely pathogenic
Select item 3021192	NM_000747.3(CHRNB1):c.244-14C>G	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 3020304	NM_000747.3(CHRNB1):c.427C>A (p.Pro143Thr)	CHRNB1 (P143T)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 3018746	NM_000747.3(CHRNB1):c.372C>T (p.Asp124=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 3017927	NM_000747.3(CHRNB1):c.959C>T (p.Thr320Ile)	CHRNB1 (T320I)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 3017401	NM_000747.3(CHRNB1):c.979G>A (p.Val327Ile)	CHRNB1 (V327I)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 3008024	NM_000747.3(CHRNB1):c.1162G>T (p.Asp388Tyr)	CHRNB1 (D388Y)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 3004977	NM_000747.3(CHRNB1):c.21G>C (p.Leu7=)	CHRNB1, LOC130060147	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 3004801	NM_000747.3(CHRNB1):c.485G>C (p.Trp162Ser)	CHRNB1 (W162S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 3003060	NM_000747.3(CHRNB1):c.408C>T (p.Asp136=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 3002403	NM_000747.3(CHRNB1):c.198+7G>T	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2983196	NM_000747.3(CHRNB1):c.462+20G>A	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2975859	NM_000747.3(CHRNB1):c.1481T>C (p.Leu494Ser)	CHRNB1 (L494S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2971573	NM_000747.3(CHRNB1):c.432G>A (p.Pro144=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2969796	NM_000747.3(CHRNB1):c.306C>T (p.Arg102=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2958206	NM_000747.3(CHRNB1):c.309C>G (p.Ile103Met)	CHRNB1 (I103M)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2957000	NM_000747.3(CHRNB1):c.198+14G>T	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2917759	NM_000747.3(CHRNB1):c.1205C>G (p.Pro402Arg)	CHRNB1 (P402R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A +1 more	GUncertain significance
Select item 2915673	NM_000747.3(CHRNB1):c.327G>C (p.Trp109Cys)	CHRNB1 (W109C)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2907236	NM_000747.3(CHRNB1):c.859C>G (p.Leu287Val)	CHRNB1 (L287V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2907166	NM_000747.3(CHRNB1):c.1234T>C (p.Ser412Pro)	CHRNB1 (S412P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2905804	NM_000747.3(CHRNB1):c.850C>T (p.Leu284=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2901251	NM_000747.3(CHRNB1):c.312G>A (p.Thr104=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2896353	NM_000747.3(CHRNB1):c.1044+14C>T	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2895826	NM_000747.3(CHRNB1):c.1112C>T (p.Pro371Leu)	CHRNB1 (P371L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2894579	NM_000747.3(CHRNB1):c.523G>A (p.Asp175Asn)	CHRNB1 (D175N)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2892873	NM_000747.3(CHRNB1):c.199-8C>G	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2866410	NM_000747.3(CHRNB1):c.172C>T (p.Leu58Phe)	CHRNB1 (L58F)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2850901	NM_000747.3(CHRNB1):c.433G>A (p.Gly145Ser)	CHRNB1 (G145S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2833989	NM_000747.3(CHRNB1):c.1365+18G>A	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2817724	NM_000747.3(CHRNB1):c.745C>T (p.Leu249=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2816408	NM_000747.3(CHRNB1):c.1268C>T (p.Pro423Leu)	CHRNB1 (P423L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2808776	NM_000747.3(CHRNB1):c.1198C>G (p.Leu400Val)	CHRNB1 (L400V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2787030	NM_000747.3(CHRNB1):c.216G>C (p.Glu72Asp)	CHRNB1 (E72D)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2780610	NM_000747.3(CHRNB1):c.1322G>A (p.Ser441Asn)	CHRNB1 (S441N)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2779475	NM_000747.3(CHRNB1):c.695G>A (p.Arg232His)	CHRNB1 (R232H)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2758642	NM_000747.3(CHRNB1):c.784C>T (p.Leu262=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2757083	NM_000747.3(CHRNB1):c.137G>A (p.Arg46Gln)	CHRNB1 (R46Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2750683	NM_000747.3(CHRNB1):c.23T>G (p.Met8Arg)	CHRNB1, LOC130060147 (M8R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2750115	NM_000747.3(CHRNB1):c.796G>A (p.Val266Ile)	CHRNB1 (V266I)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2742174	NM_000747.3(CHRNB1):c.189C>T (p.Leu63=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2741699	NM_000747.3(CHRNB1):c.399G>A (p.Val133=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2738564	NM_000747.3(CHRNB1):c.404C>T (p.Ser135Phe)	CHRNB1 (S135F)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2738500	NM_000747.3(CHRNB1):c.429C>G (p.Pro143=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2728537	NM_000747.3(CHRNB1):c.271G>A (p.Asp91Asn)	CHRNB1 (D91N)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2724949	NM_000747.3(CHRNB1):c.241C>G (p.Leu81Val)	CHRNB1 (L81V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2717508	NM_000747.3(CHRNB1):c.1039C>T (p.Arg347Cys)	CHRNB1 (R347C)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2703628	NM_000747.3(CHRNB1):c.1380G>A (p.Trp460Ter)	CHRNB1 (W460*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2701345	NM_000747.3(CHRNB1):c.757_820+135del	CHRNB1	Deletion (splice donor variant)	Congenital myasthenic syndrome 2A	GLikely pathogenic
Select item 2699648	NM_000747.3(CHRNB1):c.1217+10C>T	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2694879	NM_000747.3(CHRNB1):c.1147T>A (p.Trp383Arg)	CHRNB1 (W383R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2663945	NM_000747.3(CHRNB1):c.353+1del	CHRNB1	Deletion (splice donor variant)	Congenital myasthenic syndrome 2A	GLikely pathogenic
Select item 2634886	NM_000747.3(CHRNB1):c.1405C>T (p.Arg469Cys)	CHRNB1 (R469C)	Single nucleotide variant (missense variant)	CHRNB1-related condition +1 more	GUncertain significance
Select item 2630469	NM_000747.3(CHRNB1):c.58+1G>A	CHRNB1	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 2A +1 more	GConflicting classifications of pathogenicity
Select item 2540952	NM_000747.3(CHRNB1):c.71C>T (p.Ser24Leu)	CHRNB1 (S24L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2442188	NM_000747.3(CHRNB1):c.1404C>A (p.Asp468Glu)	CHRNB1 (D468E)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2440033	NM_000747.3(CHRNB1):c.133G>A (p.Ala45Thr)	CHRNB1 (A45T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2426868	NM_000747.3(CHRNB1):c.336C>T (p.Asp112=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2423389	NC_000017.10:g.(?_7359882)_(7360042_?)del	CHRNB1	Deletion	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	POLR2A, RNASEK +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 2420343	NM_000747.3(CHRNB1):c.667G>A (p.Asp223Asn)	CHRNB1 (D223N)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2420274	NM_000747.3(CHRNB1):c.512C>G (p.Ser171Cys)	CHRNB1 (S171C)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2415567	NM_000747.3(CHRNB1):c.1218-15T>C	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2194310	NM_000747.3(CHRNB1):c.92G>A (p.Arg31Gln)	CHRNB1 (R31Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2192805	NM_000747.3(CHRNB1):c.1306G>T (p.Val436Phe)	CHRNB1 (V436F)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2192292	NM_000747.3(CHRNB1):c.353+5_353+7del	CHRNB1	Deletion (intron variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2191849	NM_000747.3(CHRNB1):c.515A>G (p.Tyr172Cys)	CHRNB1 (Y172C)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2173769	NM_000747.3(CHRNB1):c.1164T>C (p.Asp388=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2171402	NM_000747.3(CHRNB1):c.766T>C (p.Cys256Arg)	CHRNB1 (C256R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2168455	NM_000747.3(CHRNB1):c.58+4A>G	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2167977	NM_000747.3(CHRNB1):c.981C>T (p.Val327=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2167003	NM_000747.3(CHRNB1):c.387T>C (p.Ile129=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2157918	NM_000747.3(CHRNB1):c.406G>T (p.Asp136Tyr)	CHRNB1 (D136Y)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2153710	NM_000747.3(CHRNB1):c.504G>T (p.Val168=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2151475	NM_000747.3(CHRNB1):c.165C>G (p.Ser55Arg)	CHRNB1 (S55R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2145513	NM_000747.3(CHRNB1):c.233A>G (p.Tyr78Cys)	CHRNB1 (Y78C)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2144433	NM_000747.3(CHRNB1):c.611-1G>C	CHRNB1	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome 2A	GLikely pathogenic
Select item 2142722	NM_000747.3(CHRNB1):c.516C>T (p.Tyr172=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2141128	NM_000747.3(CHRNB1):c.821-14C>T	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2118019	NM_000747.3(CHRNB1):c.611-6C>T	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2118016	NM_000747.3(CHRNB1):c.1102_1103del (p.Asp368fs)	CHRNB1 (D368fs)	Microsatellite (frameshift variant)	Congenital myasthenic syndrome 2A	GPathogenic
Select item 2112638	NM_000747.3(CHRNB1):c.354C>T (p.Asn118=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2107756	NM_000747.3(CHRNB1):c.1230_1244dup (p.Pro414_Asp415insGluLeuSerAlaPro)	CHRNB1	Duplication (inframe_insertion)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2105383	NM_000747.3(CHRNB1):c.59-3_60dup	CHRNB1	Duplication (splice acceptor variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2095634	NM_000747.3(CHRNB1):c.1248G>C (p.Leu416=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2095507	NM_000747.3(CHRNB1):c.993C>T (p.Asn331=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2087035	NM_000747.3(CHRNB1):c.1066C>T (p.Leu356=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2085396	NM_000747.3(CHRNB1):c.199-2A>C	CHRNB1	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome 2A +1 more	GConflicting classifications of pathogenicity
Select item 2079964	NM_000747.3(CHRNB1):c.1245_1247delinsATC (p.Asp415_Leu416delinsGluSer)	CHRNB1	Indel (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2069261	NM_000747.3(CHRNB1):c.1062T>G (p.Leu354=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2067535	NM_000747.3(CHRNB1):c.29TGGGGGCGC[1] (p.10LGA[1])	CHRNB1, LOC130060147	Microsatellite (inframe_deletion)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2061572	NM_000747.3(CHRNB1):c.715C>T (p.Leu239Phe)	CHRNB1 (L239F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2061443	NM_000747.3(CHRNB1):c.557G>A (p.Gly186Asp)	CHRNB1 (G186D)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2058234	NM_000747.3(CHRNB1):c.901A>G (p.Thr301Ala)	CHRNB1 (T301A)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2057766	NM_000747.3(CHRNB1):c.299C>T (p.Ser100Leu)	CHRNB1 (S100L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2050672	NM_000747.3(CHRNB1):c.198+17G>C	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2050057	NM_000747.3(CHRNB1):c.477C>G (p.Pro159=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2047690	NM_000747.3(CHRNB1):c.820+16G>T	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2044438	NM_000747.3(CHRNB1):c.198+15G>T	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2042130	NM_000747.3(CHRNB1):c.58+12C>A	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GLikely benign

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