ClinVar for MedGen (Select 373251) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 128

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2577839	NM_000080.4(CHRNE):c.1052C>G (p.Pro351Arg)	CHRNE, LOC130060041 (P351R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A +2 more	GLikely pathogenic
Select item 2498162	NM_000080.4(CHRNE):c.1032+1G>C	CHRNE	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 4C	GPathogenic
Select item 1709193	NM_000080.4(CHRNE):c.1461C>A (p.Tyr487Ter)	CHRNE (Y487*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 1441274	NM_000080.4(CHRNE):c.917G>T (p.Arg306Met)	C17orf107, CHRNE (R306M)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +3 more	GConflicting classifications of pathogenicity
Select item 1417628	NM_000080.4(CHRNE):c.847C>T (p.Gln283Ter)	C17orf107, CHRNE (Q283*)	Single nucleotide variant (nonsense +1 more)	Congenital myasthenic syndrome 4B +2 more	GPathogenic/Likely pathogenic
Select item 1412034	NM_000080.4(CHRNE):c.1115C>T (p.Ala372Val)	CHRNE (A372V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A +2 more	GUncertain significance
Select item 1358415	NM_001244710.2(GFPT1):c.1878A>G (p.Gln626=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4C +2 more	GConflicting classifications of pathogenicity
Select item 1322081	NM_000080.4(CHRNE):c.1429del (p.Ala477fs)	CHRNE (A477fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4A +3 more	GPathogenic/Likely pathogenic
Select item 1299524	NM_000048.4(ASL):c.1327del (p.Thr443fs)	ASL (T417fs +2 more)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4C	GPathogenic
Select item 969592	NM_000080.4(CHRNE):c.569A>G (p.Asn190Ser)	CHRNE, C17orf107 (N190S)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +2 more	GUncertain significance
Select item 961284	NM_000080.4(CHRNE):c.1018C>T (p.Pro340Ser)	CHRNE (P340S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A +2 more	GUncertain significance
Select item 947210	NM_000080.4(CHRNE):c.447_459del (p.Val150fs)	C17orf107, CHRNE (V150fs)	Deletion (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +1 more	GPathogenic
Select item 935256	NM_000080.4(CHRNE):c.1254dup (p.Glu419fs)	CHRNE (E419fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 4A +2 more	GPathogenic/Likely pathogenic
Select item 931855	NM_000080.4(CHRNE):c.439G>A (p.Val147Ile)	C17orf107, CHRNE (V147I)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4B +2 more	GUncertain significance
Select item 892133	NM_000747.3(CHRNB1):c.*775A>C	CHRNB1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 892132	NM_000747.3(CHRNB1):c.*765G>A	CHRNB1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 892131	NM_000747.3(CHRNB1):c.*701G>A	CHRNB1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 890900	NM_000747.3(CHRNB1):c.*512C>T	CHRNB1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 890899	NM_000747.3(CHRNB1):c.*403C>G	CHRNB1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 890898	NM_000747.3(CHRNB1):c.*369C>T	CHRNB1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 890897	NM_000747.3(CHRNB1):c.*343C>T	CHRNB1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 890896	NM_000747.3(CHRNB1):c.*287C>T	CHRNB1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4C	GBenign
Select item 890848	NM_000747.3(CHRNB1):c.754G>A (p.Val252Ile)	CHRNB1 (V252I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 890334	NM_000747.3(CHRNB1):c.*120G>A	CHRNB1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 890333	NM_000747.3(CHRNB1):c.*79G>A	CHRNB1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 890189	NM_000747.3(CHRNB1):c.481G>A (p.Asp161Asn)	CHRNB1 (D161N)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4C +2 more	GUncertain significance
Select item 890188	NM_000747.3(CHRNB1):c.243+14A>G	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4C +1 more	GBenign/Likely benign
Select item 890187	NM_000747.3(CHRNB1):c.236T>C (p.Leu79Ser)	CHRNB1 (L79S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A +1 more	GUncertain significance
Select item 889528	NM_000747.3(CHRNB1):c.198+15G>A	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A +1 more	GConflicting classifications of pathogenicity
Select item 888631	NM_000747.3(CHRNB1):c.1348C>A (p.Gln450Lys)	CHRNB1 (Q450K)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 888630	NM_000747.3(CHRNB1):c.1268C>A (p.Pro423Gln)	CHRNB1 (P423Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 888587	NM_000747.3(CHRNB1):c.669T>C (p.Asp223=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 813416	NM_020549.5(CHAT):c.1715C>A (p.Ser572Ter)	CHAT (S490* +2 more)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 4C	GLikely pathogenic
Select item 813415	NM_020549.5(CHAT):c.982del (p.Asp328fs)	CHAT (D246fs +2 more)	Deletion (frameshift variant)	Familial infantile myasthenia +1 more	GPathogenic/Likely pathogenic
Select item 725792	NM_000747.3(CHRNB1):c.39G>C (p.Leu13=)	CHRNB1, LOC130060147	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4C +1 more	GConflicting classifications of pathogenicity
Select item 706859	NM_000747.3(CHRNB1):c.1394T>C (p.Met465Thr)	CHRNB1 (M465T)	Single nucleotide variant (missense variant)	See cases +2 more	GConflicting classifications of pathogenicity
Select item 706240	NM_000747.3(CHRNB1):c.1424T>C (p.Phe475Ser)	CHRNB1 (F475S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4C +2 more	GConflicting classifications of pathogenicity
Select item 694644	NM_000080.4(CHRNE):c.1252_1267dup (p.Cys423fs)	CHRNE (C423fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 679148	NM_000080.4(CHRNE):c.46+64G>A	C17orf107, CHRNE	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4C +3 more	GBenign
Select item 647617	NM_000080.4(CHRNE):c.235-2A>G	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +2 more	GLikely pathogenic
Select item 647593	NM_000080.4(CHRNE):c.602-4_602-3delinsTT	C17orf107, CHRNE	Indel (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +2 more	GUncertain significance
Select item 631787	NM_000747.3(CHRNB1):c.605dup (p.Ile203fs)	CHRNB1 (I203fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 2A +1 more	GConflicting classifications of pathogenicity
Select item 623392	NM_000080.4(CHRNE):c.1081_1099del (p.Glu361fs)	CHRNE, LOC130060041 (E361fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4C	GPathogenic
Select item 598329	NM_000747.3(CHRNB1):c.1217+9A>G	CHRNB1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 583083	NM_000080.4(CHRNE):c.896T>C (p.Leu299Pro)	C17orf107, CHRNE (L299P)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +5 more	GUncertain significance
Select item 575763	NM_000747.3(CHRNB1):c.340G>A (p.Val114Met)	CHRNB1 (V114M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 572352	NM_000080.4(CHRNE):c.26T>G (p.Leu9Arg)	C17orf107, CHRNE (L9R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A +2 more	GUncertain significance
Select item 569406	NM_000747.3(CHRNB1):c.53C>G (p.Ala18Gly)	CHRNB1, LOC130060147 (A18G)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A +1 more	GUncertain significance
Select item 568308	NM_000080.4(CHRNE):c.710G>A (p.Arg237His)	C17orf107, CHRNE (R237H)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +5 more	GUncertain significance
Select item 542758	NM_000747.3(CHRNB1):c.564C>T (p.Asp188=)	CHRNB1	Single nucleotide variant (synonymous variant)	CHRNB1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 540353	NM_001244710.2(GFPT1):c.686-2A>G	GFPT1	Single nucleotide variant (intron variant +1 more)	Abnormality of the musculature +5 more	GPathogenic
Select item 534259	NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr)	C17orf107, CHRNE (I194T)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4B +6 more	GUncertain significance
Select item 534249	NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro)	C17orf107, CHRNE (L98P)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +2 more	GConflicting classifications of pathogenicity
Select item 523042	NM_000747.3(CHRNB1):c.167T>C (p.Val56Ala)	CHRNB1 (V56A)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A +2 more	GUncertain significance
Select item 500208	NM_000080.4(CHRNE):c.118C>T (p.Arg40Trp)	C17orf107, CHRNE (R40W)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +3 more	GUncertain significance
Select item 488482	NM_000080.4(CHRNE):c.1326+1G>A	CHRNE	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 4C +1 more	GPathogenic/Likely pathogenic
Select item 476151	NM_000747.3(CHRNB1):c.516C>G (p.Tyr172Ter)	CHRNB1 (Y172*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 4C +1 more	GConflicting classifications of pathogenicity
Select item 476149	NM_000747.3(CHRNB1):c.1359C>T (p.His453=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4C +1 more	GBenign/Likely benign
Select item 465857	NM_000080.4(CHRNE):c.1181_1187dup (p.Glu396delinsAspValTer)	CHRNE, LOC130060040	Duplication (nonsense)	not provided +2 more	GPathogenic
Select item 465852	NM_000080.4(CHRNE):c.1071GCC[4] (p.Pro360dup)	CHRNE, LOC130060041	Microsatellite (inframe_insertion)	not provided +3 more	GUncertain significance
Select item 449451	NM_000080.4(CHRNE):c.934_936del (p.Met312del)	C17orf107, CHRNE (M312del)	Deletion (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +3 more	GPathogenic/Likely pathogenic
Select item 424794	NM_005055.4(RAPSN):c.[524A>G];[829A>G]			Fetal akinesia deformation sequence 1 +1 more	GLikely pathogenic
Select item 381940	NM_001244710.2(GFPT1):c.41G>A (p.Arg14Gln)	GFPT1 (R14Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4C +1 more	GPathogenic/Likely pathogenic
Select item 381628	NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu)	C17orf107, CHRNE (P265L)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +3 more	GPathogenic/Likely pathogenic
Select item 325117	NM_000747.3(CHRNB1):c.*843G>C	CHRNB1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 325116	NM_000747.3(CHRNB1):c.*778C>T	CHRNB1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 325115	NM_000747.3(CHRNB1):c.*755A>C	CHRNB1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4C	GBenign
Select item 325114	NM_000747.3(CHRNB1):c.*749C>T	CHRNB1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 325113	NM_000747.3(CHRNB1):c.*433A>G	CHRNB1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4C	GBenign
Select item 325112	NM_000747.3(CHRNB1):c.*281T>C	CHRNB1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4C +1 more	GBenign
Select item 325111	NM_000747.3(CHRNB1):c.*136T>C	CHRNB1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 325110	NM_000747.3(CHRNB1):c.*71C>T	CHRNB1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 325109	NM_000747.3(CHRNB1):c.*68T>C	CHRNB1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4C +1 more	GBenign
Select item 325108	NM_000747.3(CHRNB1):c.*31C>T	CHRNB1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 325107	NM_000747.3(CHRNB1):c.1225C>G (p.Pro409Ala)	CHRNB1 (P409A)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4C +3 more	GConflicting classifications of pathogenicity
Select item 325106	NM_000747.3(CHRNB1):c.1218-3C>T	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A +1 more	GUncertain significance
Select item 325105	NM_000747.3(CHRNB1):c.1146C>G (p.Gly382=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A +1 more	GUncertain significance
Select item 325104	NM_000747.3(CHRNB1):c.1087C>A (p.Pro363Thr)	CHRNB1 (P363T)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 325103	NM_000747.3(CHRNB1):c.1044+9G>A	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A +1 more	GConflicting classifications of pathogenicity
Select item 325102	NM_000747.3(CHRNB1):c.995T>G (p.Leu332Arg)	CHRNB1 (L332R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 325101	NM_000747.3(CHRNB1):c.903C>T (p.Thr301=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A +2 more	GConflicting classifications of pathogenicity
Select item 325092	NM_000747.3(CHRNB1):c.680G>A (p.Gly227Glu)	CHRNB1 (G227E)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 325079	NM_000747.3(CHRNB1):c.565G>A (p.Gly189Arg)	CHRNB1 (G189R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4C +3 more	GConflicting classifications of pathogenicity
Select item 325078	NM_000747.3(CHRNB1):c.531G>A (p.Ser177=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4C +1 more	GConflicting classifications of pathogenicity
Select item 325077	NM_000747.3(CHRNB1):c.354-3C>T	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 325076	NM_000747.3(CHRNB1):c.305G>C (p.Arg102Pro)	CHRNB1 (R102P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4C +1 more	GConflicting classifications of pathogenicity
Select item 325075	NM_000747.3(CHRNB1):c.278C>G (p.Ala93Gly)	CHRNB1 (A93G)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 325073	NM_000747.3(CHRNB1):c.-13G>C	CHRNB1	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign/Likely benign
Select item 325072	NM_000747.3(CHRNB1):c.-19C>T	CHRNB1	Single nucleotide variant (5 prime UTR variant)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 323995	NM_000080.4(CHRNE):c.506A>T (p.Gln169Leu)	C17orf107, CHRNE (Q169L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 323975	NM_000080.4(CHRNE):c.*61C>T	CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4B +3 more	GBenign
Select item 323974	NM_000080.4(CHRNE):c.*65C>T	CHRNE	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 4B +4 more	GBenign
Select item 284315	NM_000080.4(CHRNE):c.1042G>A (p.Glu348Lys)	CHRNE, LOC130060041 (E348K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 282036	NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)	C17orf107, CHRNE (Y35H)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 4A +6 more	GConflicting classifications of pathogenicity
Select item 256775	NM_000747.3(CHRNB1):c.720C>T (p.Ile240=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A +2 more	GConflicting classifications of pathogenicity
Select item 256770	NM_000747.3(CHRNB1):c.*18C>T	CHRNB1	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 254903	NM_000080.4(CHRNE):c.917+15C>G	CHRNE, C17orf107	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4B +4 more	GBenign
Select item 254891	NM_000080.4(CHRNE):c.1220-45C>T	LOC130060040, CHRNE	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4B +4 more	GBenign/Likely benign
Select item 243032	NM_000080.4(CHRNE):c.1353dup (p.Asn452fs)	CHRNE (N452fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 4A +3 more	GPathogenic
Select item 243031	NM_000080.4(CHRNE):c.1327del	C17orf107, CHRNE +1 more	Deletion (splice acceptor variant)	Congenital myasthenic syndrome 4C +4 more	GPathogenic

<< First< Prev

Page of 2