"Natera, Inc."[submitter] AND "CHRNE"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193972	NM_000080.4(CHRNE):c.*6A>G	CHRNE	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
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 426568	NM_000080.4(CHRNE):c.1453C>T (p.Leu485Phe)	CHRNE (L485F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 323976	NM_000080.4(CHRNE):c.1446G>A (p.Val482=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A +1 more	GConflicting classifications of pathogenicity
Select item 254893	NM_000080.4(CHRNE):c.1425C>T (p.Leu475=)	CHRNE	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 970439	NM_000080.4(CHRNE):c.1424T>A (p.Leu475His)	CHRNE (L475H)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A +1 more	GUncertain significance
Select item 254892	NM_000080.4(CHRNE):c.1416C>T (p.Leu472=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 706255	NM_000080.4(CHRNE):c.1407C>T (p.Gly469=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 534256	NM_000080.4(CHRNE):c.1402G>A (p.Val468Met)	CHRNE (V468M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 128764	NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu)	CHRNE (V468L)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 1056344	NM_000080.4(CHRNE):c.1390G>A (p.Val464Met)	CHRNE (V464M)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A +1 more	GUncertain significance
Select item 465860	NM_000080.4(CHRNE):c.1383C>G (p.Ala461=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 323977	NM_000080.4(CHRNE):c.1374C>T (p.Cys458=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A +1 more	GConflicting classifications of pathogenicity
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 959504	NM_000080.4(CHRNE):c.1345C>A (p.Arg449Ser)	CHRNE (R449S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A +1 more	GUncertain significance
Select item 534258	NM_000080.4(CHRNE):c.1345C>T (p.Arg449Cys)	CHRNE (R449C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 731909	NM_000080.4(CHRNE):c.1335C>T (p.Ser445=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 243031	NM_000080.4(CHRNE):c.1327del	C17orf107, CHRNE +1 more	Deletion (splice acceptor variant)	Congenital myasthenic syndrome 4B +4 more	GPathogenic
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 465859	NM_000080.4(CHRNE):c.1323C>T (p.Gly441=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 128763	NM_000080.4(CHRNE):c.1305A>G (p.Arg435=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome +2 more	GBenign
Select item 128762	NM_000080.4(CHRNE):c.1293C>T (p.Ala431=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome +4 more	GBenign
Select item 323979	NM_000080.4(CHRNE):c.1289T>G (p.Val430Gly)	CHRNE (V430G)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome +2 more	GUncertain significance
Select item 659043	NM_000080.4(CHRNE):c.1250_1268dup (p.Val424fs)	CHRNE (V424fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 4A	GPathogenic
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 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 534255	NM_000080.4(CHRNE):c.1255G>A (p.Glu419Lys)	CHRNE (E419K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 323980	NM_000080.4(CHRNE):c.1242C>A (p.Gly414=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome +1 more	GBenign/Likely benign
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)	Congenital myasthenic syndrome 4A +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 939706	NM_000080.4(CHRNE):c.1220-4C>T	CHRNE	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 323982	NM_000080.4(CHRNE):c.1220-5G>A	CHRNE	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 861768	NM_000080.4(CHRNE):c.1218G>A (p.Thr406=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 585673	NM_000080.4(CHRNE):c.1211C>T (p.Thr404Ile)	CHRNE, LOC130060040 (T404I)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A +1 more	GUncertain significance
Select item 287916	NM_000080.4(CHRNE):c.1183T>G (p.Phe395Val)	CHRNE, LOC130060040 (F395V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 847037	NM_000080.4(CHRNE):c.1180G>T (p.Val394Leu)	LOC130060040, CHRNE (V394L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 449807	NM_000080.4(CHRNE):c.1173C>A (p.Ser391Arg)	CHRNE, LOC130060040 (S391R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 645845	NM_000080.4(CHRNE):c.1169G>C (p.Arg390Pro)	CHRNE, LOC130060040 (R390P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 287912	NM_000080.4(CHRNE):c.1168C>T (p.Arg390Trp)	CHRNE, LOC130060040 (R390W)	Single nucleotide variant (missense variant)	not provided +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 465855	NM_000080.4(CHRNE):c.1142C>T (p.Ala381Val)	CHRNE, LOC130060040 (A381V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 752838	NM_000080.4(CHRNE):c.1119G>A (p.Ser373=)	CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 706191	NM_000080.4(CHRNE):c.1104C>T (p.Pro368=)	CHRNE, LOC130060041	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 567584	NM_000080.4(CHRNE):c.1103C>T (p.Pro368Leu)	CHRNE, LOC130060041 (P368L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A +1 more	GUncertain significance
Select item 845796	NM_000080.4(CHRNE):c.1100C>T (p.Ser367Leu)	CHRNE, LOC130060041 (S367L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 706529	NM_000080.4(CHRNE):c.1098C>T (p.Ala366=)	CHRNE, LOC130060041	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
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 465852	NM_000080.4(CHRNE):c.1071GCC[4] (p.Pro360dup)	CHRNE, LOC130060041	Microsatellite (inframe_insertion)	not provided +3 more	GUncertain significance
Select item 641751	NM_000080.4(CHRNE):c.1078C>T (p.Pro360Ser)	CHRNE, LOC130060041 (P360S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 990477	NM_000080.4(CHRNE):c.1077G>T (p.Pro359=)	CHRNE, LOC130060041	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
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 323983	NM_000080.4(CHRNE):c.1071G>A (p.Pro357=)	CHRNE, LOC130060041	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 652467	NM_000080.4(CHRNE):c.1070C>T (p.Pro357Leu)	CHRNE, LOC130060041 (P357L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 578125	NM_000080.4(CHRNE):c.1055G>T (p.Arg352Leu)	CHRNE, LOC130060041 (R352L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A +1 more	GUncertain significance
Select item 937423	NM_000080.4(CHRNE):c.1051C>T (p.Pro351Ser)	CHRNE, LOC130060041 (P351S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A +1 more	GUncertain significance
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 284315	NM_000080.4(CHRNE):c.1042G>A (p.Glu348Lys)	LOC130060041, CHRNE (E348K)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A +4 more	GUncertain significance
Select item 128761	NM_000080.4(CHRNE):c.1033-6C>T	CHRNE, LOC130060041	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome +4 more	GBenign
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 657553	NM_000080.4(CHRNE):c.1021C>T (p.Arg341Trp)	CHRNE (R341W)	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 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 128760	NM_000080.4(CHRNE):c.1017C>G (p.Ser339=)	CHRNE	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 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 580087	NM_000080.4(CHRNE):c.989A>G (p.Gln330Arg)	CHRNE (Q330R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 18348	NM_000080.4(CHRNE):c.971del (p.Ile324fs)	CHRNE (I324fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4A +2 more	GPathogenic/Likely pathogenic
Select item 254904	NM_000080.4(CHRNE):c.966C>T (p.Cys322=)	CHRNE	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 729924	NM_000080.4(CHRNE):c.948G>A (p.Thr316=)	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 766031	NM_000080.4(CHRNE):c.945C>T (p.Ala315=)	C17orf107, CHRNE	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 641378	NM_000080.4(CHRNE):c.918G>T (p.Arg306Ser)	CHRNE, C17orf107 (R306S)	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 372325	NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg)	C17orf107, CHRNE (P302R)	Single nucleotide variant (3 prime UTR variant +1 more)	See cases +3 more	GConflicting classifications of pathogenicity
Select item 323987	NM_000080.4(CHRNE):c.901G>A (p.Val301Met)	C17orf107, CHRNE (V301M)	Single nucleotide variant (3 prime UTR variant +1 more)	CHRNE-related condition +5 more	GConflicting classifications of pathogenicity
Select item 583083	NM_000080.4(CHRNE):c.896T>C (p.Leu299Pro)	CHRNE, C17orf107 (L299P)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +5 more	GUncertain significance
Select item 576332	NM_000080.4(CHRNE):c.883C>T (p.Pro295Ser)	C17orf107, CHRNE (P295S)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 763419	NM_000080.4(CHRNE):c.858C>T (p.Phe286=)	CHRNE, C17orf107	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 323988	NM_000080.4(CHRNE):c.820A>G (p.Thr274Ala)	C17orf107, CHRNE (T274A)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome +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 834428	NM_000080.4(CHRNE):c.808G>A (p.Gly270Ser)	C17orf107, CHRNE (G270S)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 863073	NM_000080.4(CHRNE):c.803-2A>G	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +1 more	GPathogenic
Select item 752451	NM_000080.4(CHRNE):c.802+9T>C	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 323989	NM_000080.4(CHRNE):c.802+7A>C	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 323990	NM_000080.4(CHRNE):c.797C>T (p.Ala266Val)	CHRNE, C17orf107 (A266V)	Single nucleotide variant (3 prime UTR variant +1 more)	CHRNE-related condition +3 more	GConflicting classifications of pathogenicity
Select item 581958	NM_000080.4(CHRNE):c.795G>A (p.Pro265=)	C17orf107, CHRNE	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 892244	NM_000080.4(CHRNE):c.781G>T (p.Ala261Ser)	C17orf107, CHRNE (A261S)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +1 more	GUncertain significance
Select item 1061930	NM_000080.4(CHRNE):c.745G>A (p.Val249Met)	C17orf107, CHRNE (V249M)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 568308	NM_000080.4(CHRNE):c.710G>A (p.Arg237His)	CHRNE, C17orf107 (R237H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +5 more	GUncertain significance
Select item 40228	NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu)	C17orf107, CHRNE (R237L)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +4 more	GConflicting classifications of pathogenicity
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 1011216	NM_000080.4(CHRNE):c.691A>G (p.Ile231Val)	CHRNE, C17orf107 (I231V)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 968877	NM_000080.4(CHRNE):c.646C>T (p.Arg216Cys)	CHRNE, C17orf107 (R216C)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 18357	NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)	C17orf107, CHRNE (W205fs)	Deletion (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4B +4 more	GPathogenic
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 1024398	NM_000080.4(CHRNE):c.598A>G (p.Thr200Ala)	C17orf107, CHRNE (T200A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 534259	NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr)	C17orf107, CHRNE (I194T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +6 more	GUncertain significance
Select item 663474	NM_000080.4(CHRNE):c.580A>T (p.Ile194Phe)	C17orf107, CHRNE (I194F)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A	GUncertain significance
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 452111	NM_000080.4(CHRNE):c.557G>A (p.Gly186Asp)	C17orf107, CHRNE (G186D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1075930	NM_000080.4(CHRNE):c.529_551del (p.Glu177fs)	CHRNE, C17orf107 (E177fs)	Deletion (3 prime UTR variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic

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