ClinVar for MedGen (Select 155650) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2692228	NM_000080.4(CHRNE):c.1016_1032+2dup	CHRNE	Duplication (splice donor variant)	Congenital myasthenic syndrome 4B	GLikely pathogenic
Select item 2680805	NM_000080.4(CHRNE):c.535A>C (p.Thr179Pro)	C17orf107, CHRNE (T179P)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2506082	NM_000080.4(CHRNE):c.604A>T (p.Asn202Tyr)	C17orf107, CHRNE (N202Y)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2503833	NM_000080.4(CHRNE):c.1116_1128del (p.Ser373fs)	CHRNE (S373fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4A +2 more	GPathogenic
Select item 2501174	NM_005677.4(COLQ):c.870_871del (p.Cys291fs)	COLQ (C257fs +2 more)	Deletion (frameshift variant)	Congenital myasthenic syndrome	GLikely pathogenic
Select item 2029245	NM_173660.5(DOK7):c.379G>A (p.Gly127Ser)	DOK7 (G127S)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1878331	NM_173660.5(DOK7):c.1370_1446del (p.Glu457fs)	DOK7 (E147fs +2 more)	Deletion (3 prime UTR variant +1 more)	Congenital myasthenic syndrome	GLikely pathogenic
Select item 1804863	NM_173660.5(DOK7):c.451C>T (p.Gln151Ter)	DOK7 (Q151*)	Single nucleotide variant (nonsense +1 more)	Congenital myasthenic syndrome 10 +2 more	GLikely pathogenic
Select item 1804816	NM_020549.5(CHAT):c.451C>T (p.Arg151Ter)	CHAT (R151* +2 more)	Single nucleotide variant (nonsense)	not specified +2 more	GPathogenic/Likely pathogenic
Select item 1804723	NM_001244710.2(GFPT1):c.211G>T (p.Glu71Ter)	GFPT1 (E71*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome	GLikely pathogenic
Select item 1705068	NM_020549.5(CHAT):c.1468_1470delinsC (p.Glu490fs)	CHAT (E372fs +2 more)	Indel (frameshift variant)	Congenital myasthenic syndrome +1 more	GLikely pathogenic
Select item 1704522	NM_001244710.2(GFPT1):c.739+1G>A	GFPT1	Single nucleotide variant (intron variant +1 more)	Congenital myasthenic syndrome	GLikely pathogenic
Select item 1703994	NM_173660.5(DOK7):c.414C>T (p.Leu138=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 10 +4 more	GLikely pathogenic
Select item 1696034	NC_000004.11:g.(3478270_3487265)_(3487386_3491403)del	DOK7	Deletion	Congenital myasthenic syndrome	GLikely pathogenic
Select item 1526117	NM_000080.4(CHRNE):c.452_454del (p.Glu151del)	C17orf107, CHRNE (E151del)	Deletion (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +1 more	GPathogenic/Likely pathogenic
Select item 1383050	NM_005677.4(COLQ):c.700G>T (p.Gly234Ter)	COLQ (G224* +2 more)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome +1 more	GPathogenic
Select item 1328152	NM_000080.4(CHRNE):c.985T>C (p.Ser329Pro)	CHRNE (S329P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 1304530	NM_000080.4(CHRNE):c.610G>A (p.Glu204Lys)	C17orf107, CHRNE (E204K)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1301986	NM_001244710.2(GFPT1):c.1588C>T (p.Arg530Trp)	GFPT1 (R512W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1197436	NM_173660.5(DOK7):c.1441dup (p.His481fs)	DOK7 (H171fs +2 more)	Duplication (3 prime UTR variant +1 more)	Congenital myasthenic syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1135922	NM_000080.4(CHRNE):c.132G>A (p.Glu44=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1079602	NM_000080.4(CHRNE):c.15G>A (p.Pro5=)	C17orf107, CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1076387	NM_000080.4(CHRNE):c.84T>G (p.Tyr28Ter)	C17orf107, CHRNE (Y28*)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 1075930	NM_000080.4(CHRNE):c.529_551del (p.Glu177fs)	C17orf107, CHRNE (E177fs)	Deletion (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +3 more	GPathogenic/Likely pathogenic
Select item 1073877	NM_005055.5(RAPSN):c.291C>A (p.Cys97Ter)	RAPSN (C97*)	Single nucleotide variant (nonsense)	Fetal akinesia deformation sequence 1 +2 more	GPathogenic
Select item 1067929	NM_005055.5(RAPSN):c.531+1G>T	RAPSN	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 11 +2 more	GPathogenic/Likely pathogenic
Select item 1067128	NM_001244710.2(GFPT1):c.44C>T (p.Thr15Met)	GFPT1 (T15M)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome +1 more	GPathogenic
Select item 1063407	NM_005055.5(RAPSN):c.317G>A (p.Cys106Tyr)	RAPSN (C106Y)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 1061930	NM_000080.4(CHRNE):c.745G>A (p.Val249Met)	CHRNE, C17orf107 (V249M)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 1056344	NM_000080.4(CHRNE):c.1390G>A (p.Val464Met)	CHRNE (V464M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1052540	NM_005055.5(RAPSN):c.33G>C (p.Glu11Asp)	RAPSN (E11D)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 1043682	NM_000080.4(CHRNE):c.373G>A (p.Asp125Asn)	C17orf107, CHRNE (D125N)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 1038740	NM_000080.4(CHRNE):c.488C>G (p.Ser163Trp)	C17orf107, CHRNE (S163W)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1037789	NM_000080.4(CHRNE):c.1033-9C>A	CHRNE, LOC130060041	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1037340	NM_005055.5(RAPSN):c.814G>A (p.Ala272Thr)	RAPSN (A272T)	Single nucleotide variant (missense variant +1 more)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 1034545	NM_005055.5(RAPSN):c.325T>G (p.Cys109Gly)	RAPSN (C109G)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 1034454	NM_005055.5(RAPSN):c.613C>T (p.Arg205Trp)	RAPSN (R205W)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 1024398	NM_000080.4(CHRNE):c.598A>G (p.Thr200Ala)	CHRNE, C17orf107 (T200A)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +1 more	GUncertain significance
Select item 1023882	NM_000080.4(CHRNE):c.1261C>T (p.Arg421Cys)	CHRNE (R421C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1020826	NM_000080.4(CHRNE):c.1003A>G (p.Thr335Ala)	CHRNE (T335A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1020398	NM_000080.4(CHRNE):c.1093G>A (p.Ala365Thr)	CHRNE, LOC130060041 (A365T)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 1018672	NM_005055.5(RAPSN):c.1081C>G (p.Leu361Val)	RAPSN (L302V +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 1015199	NM_000080.4(CHRNE):c.202G>A (p.Glu68Lys)	C17orf107, CHRNE (E68K)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 1014758	NM_005055.5(RAPSN):c.248T>A (p.Leu83Gln)	RAPSN (L83Q)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 1011216	NM_000080.4(CHRNE):c.691A>G (p.Ile231Val)	C17orf107, CHRNE (I231V)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 1009067	NM_000080.4(CHRNE):c.406G>A (p.Val136Met)	C17orf107, CHRNE (V136M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1009012	NM_005055.5(RAPSN):c.581A>G (p.Asn194Ser)	RAPSN (N194S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +2 more	GUncertain significance
Select item 1008321	NM_005055.5(RAPSN):c.1076C>T (p.Thr359Met)	RAPSN (T300M +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 1003457	NM_000080.4(CHRNE):c.1144GAG[1] (p.Glu383del)	CHRNE, LOC130060040 (E383del)	Microsatellite (inframe_deletion)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 1001865	NM_005055.5(RAPSN):c.328C>T (p.Leu110Phe)	RAPSN (L110F)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 992274	NM_000080.4(CHRNE):c.916A>G (p.Arg306Gly)	C17orf107, CHRNE (R306G)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome	GPathogenic
Select item 991114	NM_005055.5(RAPSN):c.102G>A (p.Glu34=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 991113	NM_005055.5(RAPSN):c.130C>T (p.Arg44Cys)	RAPSN (R44C)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 991112	NM_005055.5(RAPSN):c.279C>T (p.Asn93=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 991111	NM_005055.5(RAPSN):c.605T>C (p.Leu202Pro)	RAPSN (L202P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 991110	NM_005055.5(RAPSN):c.682T>C (p.Cys228Arg)	RAPSN (C228R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 990480	NM_000080.4(CHRNE):c.357G>A (p.Gln119=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 990479	NM_000080.4(CHRNE):c.1049T>C (p.Leu350Pro)	CHRNE, LOC130060041 (L350P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 990478	NM_000080.4(CHRNE):c.1074G>A (p.Pro358=)	CHRNE, LOC130060041	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 990477	NM_000080.4(CHRNE):c.1077G>T (p.Pro359=)	LOC130060041, CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 990465	NM_005055.5(RAPSN):c.798C>T (p.Phe266=)	RAPSN	Single nucleotide variant (synonymous variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 990464	NM_005055.5(RAPSN):c.847C>G (p.Leu283Val)	RAPSN (L283V)	Single nucleotide variant (missense variant +1 more)	Fetal akinesia deformation sequence 2 +2 more	GUncertain significance
Select item 990463	NM_005055.5(RAPSN):c.985C>T (p.His329Tyr)	RAPSN (H270Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 990462	NM_005055.5(RAPSN):c.996C>G (p.Ser332Arg)	RAPSN (S273R +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 990461	NM_005055.5(RAPSN):c.1059C>T (p.His353=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 990460	NM_005055.5(RAPSN):c.1113C>T (p.Gly371=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 990459	NM_005055.5(RAPSN):c.1208G>A (p.Arg403His)	RAPSN (R344H +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 990458	NM_005055.5(RAPSN):c.1221G>A (p.Met407Ile)	RAPSN (M348I +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 2 +2 more	GUncertain significance
Select item 972659	NM_005055.5(RAPSN):c.451C>T (p.Arg151Cys)	RAPSN (R151C)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +2 more	GUncertain significance
Select item 970718	NM_005055.5(RAPSN):c.769C>T (p.Arg257Trp)	RAPSN (R257W)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 970439	NM_000080.4(CHRNE):c.1424T>A (p.Leu475His)	CHRNE (L475H)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 970144	NM_000080.4(CHRNE):c.1019C>G (p.Pro340Arg)	CHRNE (P340R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 969592	NM_000080.4(CHRNE):c.569A>G (p.Asn190Ser)	C17orf107, CHRNE (N190S)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +2 more	GUncertain significance
Select item 969203	NM_005055.5(RAPSN):c.1183G>A (p.Gly395Arg)	RAPSN (G395R +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 968877	NM_000080.4(CHRNE):c.646C>T (p.Arg216Cys)	C17orf107, CHRNE (R216C)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +1 more	GUncertain significance
Select item 968696	NM_005055.5(RAPSN):c.265C>G (p.Leu89Val)	RAPSN (L89V)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 968338	NM_005055.5(RAPSN):c.808G>A (p.Asp270Asn)	RAPSN (D270N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 968008	NM_000080.4(CHRNE):c.818G>C (p.Cys273Ser)	C17orf107, CHRNE (C273S)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 967785	NM_000080.4(CHRNE):c.1262G>A (p.Arg421His)	CHRNE (R421H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 966350	NM_000080.4(CHRNE):c.1327-3C>T	CHRNE	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 965708	NM_000080.4(CHRNE):c.16C>T (p.Leu6Phe)	C17orf107, CHRNE (L6F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 965374	NM_000080.4(CHRNE):c.359T>C (p.Phe120Ser)	C17orf107, CHRNE (F120S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 964986	NM_005055.5(RAPSN):c.863C>T (p.Ala288Val)	RAPSN (A288V)	Single nucleotide variant (missense variant +1 more)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 964970	NM_000080.4(CHRNE):c.410C>T (p.Thr137Met)	C17orf107, CHRNE (T137M)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 964861	NM_000080.4(CHRNE):c.705C>G (p.Ile235Met)	C17orf107, CHRNE (I235M)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 961284	NM_000080.4(CHRNE):c.1018C>T (p.Pro340Ser)	CHRNE (P340S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4B +2 more	GUncertain significance
Select item 959930	NM_000080.4(CHRNE):c.619A>G (p.Ile207Val)	C17orf107, CHRNE (I207V)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 959504	NM_000080.4(CHRNE):c.1345C>A (p.Arg449Ser)	CHRNE (R449S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 955518	NM_005055.5(RAPSN):c.475G>A (p.Ala159Thr)	RAPSN (A159T)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 949973	NM_000080.4(CHRNE):c.1471A>G (p.Ile491Val)	CHRNE (I491V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 946118	NM_005055.5(RAPSN):c.661C>T (p.Arg221Cys)	RAPSN (R221C)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 939869	NM_000080.4(CHRNE):c.189+5G>A	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 939706	NM_000080.4(CHRNE):c.1220-4C>T	CHRNE	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 937423	NM_000080.4(CHRNE):c.1051C>T (p.Pro351Ser)	CHRNE, LOC130060041 (P351S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 898951	NM_000751.3(CHRND):c.*1232A>C	CHRND	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome +1 more	GUncertain significance
Select item 898950	NM_000751.3(CHRND):c.*1189G>C	CHRND	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 898881	NM_000751.3(CHRND):c.*453T>C	CHRND	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 898685	NM_000751.3(CHRND):c.52+7G>A	CHRND	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome +1 more	GUncertain significance
Select item 897799	NM_000751.3(CHRND):c.*969G>A	CHRND	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome +1 more	GUncertain significance
Select item 897730	NM_000751.3(CHRND):c.*365C>A	CHRND, CHRNG	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome +1 more	GConflicting classifications of pathogenicity

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