C4225413[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1322081	NM_000080.4(CHRNE):c.1429del (p.Ala477fs)	CHRNE (A477fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4B +3 more	GPathogenic/Likely pathogenic
Select item 2697249	NM_000080.4(CHRNE):c.1383_1393del (p.Ala462fs)	CHRNE (A462fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4A	GPathogenic/Likely pathogenic
Select item 644142	NM_000080.4(CHRNE):c.1371del (p.Cys458fs)	CHRNE (C458fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4A +1 more	GPathogenic/Likely pathogenic
Select item 973529	NM_000080.4(CHRNE):c.1364ACA[1] (p.Asn456del)	CHRNE (N456del)	Microsatellite (inframe_deletion)	Congenital myasthenic syndrome 4B +1 more	GPathogenic
Select item 243032	NM_000080.4(CHRNE):c.1353dup (p.Asn452fs)	CHRNE (N452fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 1382329	NM_000080.4(CHRNE):c.1341G>A (p.Trp447Ter)	CHRNE (W447*)	Single nucleotide variant (nonsense)	CHRNE-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 243031	NM_000080.4(CHRNE):c.1327del	C17orf107, CHRNE +1 more	Deletion (splice acceptor variant)	Congenital myasthenic syndrome 1A +4 more	GPathogenic
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 3241165	NM_000080.4(CHRNE):c.1327-2A>T	CHRNE	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 663330	NM_000080.4(CHRNE):c.1319_1326+15del	CHRNE	Deletion (splice donor variant)	not provided +1 more	GPathogenic/Likely 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 842325	NM_000080.4(CHRNE):c.1297_1314dup (p.Ser433_Glu438dup)	CHRNE	Duplication (inframe_insertion)	Congenital myasthenic syndrome 4A +1 more	GLikely pathogenic
Select item 2680799	NM_000080.4(CHRNE):c.1309C>T (p.Gln437Ter)	CHRNE (Q437*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 18361	NM_000080.4(CHRNE):c.1291G>C (p.Ala431Pro)	CHRNE (A431P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A +1 more	GPathogenic
Select item 694644	NM_000080.4(CHRNE):c.1252_1267dup (p.Cys423fs)	CHRNE (C423fs)	Duplication (frameshift variant)	Abnormality of the musculature +2 more	GPathogenic/Likely pathogenic
Select item 2680807	NM_000080.4(CHRNE):c.1251_1266dup (p.Cys423fs)	CHRNE (C423fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 1959021	NM_000080.4(CHRNE):c.1248_1266dup (p.Cys423fs)	CHRNE (C423fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 935256	NM_000080.4(CHRNE):c.1254dup (p.Glu419fs)	CHRNE (E419fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 4B +2 more	GPathogenic/Likely pathogenic
Select item 1070640	NM_000080.4(CHRNE):c.1220-8_1227dup	CHRNE	Duplication (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 578263	NM_000080.4(CHRNE):c.1220-6_1227del	CHRNE	Deletion (splice acceptor variant)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 860192	NM_000080.4(CHRNE):c.1220-1G>A	CHRNE	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 859561	NM_000080.4(CHRNE):c.1220-1G>C	CHRNE	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 631777	NM_000080.4(CHRNE):c.1220-2A>G	CHRNE	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1492244	NM_000080.4(CHRNE):c.1216_1219+19del	CHRNE, LOC130060040	Deletion (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1458892	NM_000080.4(CHRNE):c.1219+2T>G	CHRNE, LOC130060040	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 4A	GPathogenic
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 2680797	NM_000080.4(CHRNE):c.1204C>T (p.Gln402Ter)	CHRNE, LOC130060040 (Q402*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 969335	NM_000080.4(CHRNE):c.1203del (p.Gln402fs)	CHRNE, LOC130060040 (Q402fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4A	GPathogenic/Likely pathogenic
Select item 465857	NM_000080.4(CHRNE):c.1181_1187dup (p.Glu396delinsAspValTer)	CHRNE, LOC130060040	Duplication (nonsense)	Congenital myasthenic syndrome 4A +2 more	GPathogenic
Select item 1070299	NM_000080.4(CHRNE):c.1164del (p.Lys388fs)	CHRNE, LOC130060040 (K388fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4A	GPathogenic/Likely pathogenic
Select item 2680796	NM_000080.4(CHRNE):c.1162_1163del (p.Lys388fs)	CHRNE, LOC130060040 (K388fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 18355	NM_000080.4(CHRNE):c.1161_1162insT (p.Lys388Ter)	CHRNE, LOC130060040 (K388*)	Insertion (nonsense)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 1071548	NM_000080.4(CHRNE):c.1158dup (p.Lys387fs)	CHRNE, LOC130060040 (K387fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 4A +1 more	GPathogenic
Select item 2680810	NM_000080.4(CHRNE):c.1144G>T (p.Glu382Ter)	CHRNE, LOC130060040 (E382*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 4A	GLikely pathogenic
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 2680800	NM_000080.4(CHRNE):c.1086_1111dup (p.Arg371fs)	CHRNE, LOC130060041 (R371fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 958734	NM_000080.4(CHRNE):c.1108del (p.Arg370fs)	CHRNE, LOC130060041 (R370fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4A	GPathogenic/Likely pathogenic
Select item 2680809	NM_000080.4(CHRNE):c.1096_1103dup (p.Arg371fs)	LOC130060041, CHRNE (R371fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 285864	NM_000080.4(CHRNE):c.1093del (p.Ala365fs)	CHRNE, LOC130060041 (A365fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4A +1 more	GPathogenic/Likely pathogenic
Select item 534252	NM_000080.4(CHRNE):c.1072_1091del (p.Pro358fs)	LOC130060041, CHRNE (P358fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4A +2 more	GPathogenic/Likely pathogenic
Select item 434765	NM_000080.4(CHRNE):c.1090dup (p.Arg364fs)	CHRNE, LOC130060041 (R364fs)	Duplication (frameshift variant)	Abnormality of the musculature +4 more	GPathogenic
Select item 2680791	NM_000080.4(CHRNE):c.1090del (p.Arg364fs)	CHRNE, LOC130060041 (R364fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 1454203	NM_000080.4(CHRNE):c.1062_1081dup (p.Glu361fs)	CHRNE, LOC130060041 (E361fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 1415746	NM_000080.4(CHRNE):c.1071GCC[2] (p.Pro360del)	CHRNE, LOC130060041 (P360del)	Microsatellite (inframe_deletion)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2680771	NM_000080.4(CHRNE):c.1050_1065dup (p.Ser356fs)	CHRNE, LOC130060041 (S356fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 420092	NM_000080.4(CHRNE):c.1033-1G>C	CHRNE, LOC130060041	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome 4A +1 more	GPathogenic/Likely pathogenic
Select item 189225	NM_000080.4(CHRNE):c.1033-2A>T	CHRNE, LOC130060041	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome 4C +1 more	GPathogenic/Likely pathogenic
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 1501328	NM_000080.4(CHRNE):c.1032+1G>A	CHRNE	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 1070884	NM_000080.4(CHRNE):c.1007_1025del (p.His336fs)	CHRNE (H336fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4A	GPathogenic/Likely pathogenic
Select item 2090933	NM_000080.4(CHRNE):c.1002_1008dup (p.Ala337fs)	CHRNE (A337fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 641946	NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln)	CHRNE (R331Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4B +3 more	GPathogenic/Likely pathogenic
Select item 18358	NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp)	CHRNE (R331W)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4B +3 more	GPathogenic/Likely pathogenic
Select item 2137882	NM_000080.4(CHRNE):c.988C>T (p.Gln330Ter)	CHRNE (Q330*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 2680785	NM_000080.4(CHRNE):c.984_986delinsT (p.Ser329fs)	CHRNE (S329fs)	Indel (frameshift variant)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 18348	NM_000080.4(CHRNE):c.971del (p.Ile324fs)	CHRNE (I324fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4B +2 more	GPathogenic/Likely pathogenic
Select item 1355047	NM_000080.4(CHRNE):c.966C>A (p.Cys322Ter)	CHRNE (C322*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 4A	GPathogenic/Likely pathogenic
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 2680782	NM_000080.4(CHRNE):c.929del (p.Phe310fs)	C17orf107, CHRNE (F310fs)	Deletion (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 2680804	NM_000080.4(CHRNE):c.922del (p.Ile309fs)	C17orf107, CHRNE (I309fs)	Deletion (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 582326	NM_000080.4(CHRNE):c.918-1G>A	CHRNE, C17orf107	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 1441274	NM_000080.4(CHRNE):c.917G>T (p.Arg306Met)	C17orf107, CHRNE (R306M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2680781	NM_000080.4(CHRNE):c.916A>T (p.Arg306Trp)	C17orf107, CHRNE (R306W)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 372325	NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg)	CHRNE, C17orf107 (P302R)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome +4 more	GPathogenic/Likely pathogenic
Select item 2680795	NM_000080.4(CHRNE):c.891_892insCTCTGGGATT (p.Ser298fs)	C17orf107, CHRNE (S298fs)	Insertion (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 2680786	NM_000080.4(CHRNE):c.878_887dup (p.Thr297fs)	C17orf107, CHRNE (T297fs)	Duplication (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 2680770	NM_000080.4(CHRNE):c.880dup (p.Ile294fs)	C17orf107, CHRNE (I294fs)	Duplication (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 2680779	NM_000080.4(CHRNE):c.876del (p.Ile294fs)	C17orf107, CHRNE (I294fs)	Deletion (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 2680787	NM_000080.4(CHRNE):c.874C>T (p.Gln292Ter)	C17orf107, CHRNE (Q292*)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GPathogenic/Likely pathogenic
Select item 2079328	NM_000080.4(CHRNE):c.866del (p.Leu289fs)	C17orf107, CHRNE (L289fs)	Deletion (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GPathogenic/Likely pathogenic
Select item 2680783	NM_000080.4(CHRNE):c.855CTT[1] (p.Phe286del)	C17orf107, CHRNE (F286del)	Microsatellite (inframe_deletion +1 more)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 2680788	NM_000080.4(CHRNE):c.803_813del	C17orf107, CHRNE	Deletion (splice acceptor variant +1 more)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 863073	NM_000080.4(CHRNE):c.803-2A>G	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 567393	NM_000080.4(CHRNE):c.794del (p.Pro265fs)	C17orf107, CHRNE (P265fs)	Deletion (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +1 more	GPathogenic
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 2680773	NM_000080.4(CHRNE):c.786C>A (p.Tyr262Ter)	C17orf107, CHRNE (Y262*)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 465864	NM_000080.4(CHRNE):c.764C>T (p.Ser255Leu)	C17orf107, CHRNE (S255L)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 2680802	NM_000080.4(CHRNE):c.726del (p.Tyr243fs)	C17orf107, CHRNE (Y243fs)	Deletion (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 18352	NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe)	C17orf107, CHRNE (L241F)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +1 more	GPathogenic/Likely pathogenic
Select item 1459509	NM_000080.4(CHRNE):c.712C>T (p.Arg238Trp)	C17orf107, CHRNE (R238W)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 2680789	NM_000080.4(CHRNE):c.696C>A (p.Tyr232Ter)	CHRNE, C17orf107 (Y232*)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 2680777	NM_000080.4(CHRNE):c.693del (p.Tyr232fs)	C17orf107, CHRNE (Y232fs)	Deletion (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 651789	NM_000080.4(CHRNE):c.684_687del (p.Asp229fs)	C17orf107, CHRNE (D229fs)	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 934771	NM_000080.4(CHRNE):c.617_635del (p.Ala206fs)	C17orf107, CHRNE (A206fs)	Deletion (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 18357	NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)	C17orf107, CHRNE (W205fs)	Deletion (frameshift variant +1 more)	Congenital myasthenic syndrome 4B +4 more	GPathogenic
Select item 2680778	NM_000080.4(CHRNE):c.605del (p.Asn202fs)	C17orf107, CHRNE (N202fs)	Deletion (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely pathogenic
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 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 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 2680784	NM_000080.4(CHRNE):c.530_531insCCAC (p.Glu177fs)	C17orf107, CHRNE (E177fs)	Insertion (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 804695	NM_000080.4(CHRNE):c.529_531del (p.Glu177del)	C17orf107, CHRNE (E177del)	Deletion (inframe_deletion +1 more)	Congenital myasthenic syndrome 4A +1 more	GPathogenic/Likely 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 465862	NM_000080.4(CHRNE):c.501-10_504dup	C17orf107, CHRNE	Duplication (splice acceptor variant +1 more)	Congenital myasthenic syndrome 4A +1 more	GConflicting classifications of pathogenicity
Select item 18362	NM_000080.4(CHRNE):c.501-16G>A	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 18345	NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu)	C17orf107, CHRNE (R167L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 18360	NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu)	C17orf107, CHRNE (S163L)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +2 more	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 2680808	NM_000080.4(CHRNE):c.432C>A (p.Tyr144Ter)	C17orf107, CHRNE (Y144*)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 18346	NM_000080.4(CHRNE):c.422C>T (p.Pro141Leu)	C17orf107, CHRNE (P141L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GPathogenic
Select item 135656	NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr)	C17orf107, CHRNE (P141T)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +1 more	GConflicting classifications of pathogenicity

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