ClinVar for MedGen (Select 904424) - ClinVar

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

Links from MedGen

Items: 51

	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 1687321	NM_000080.4(CHRNE):c.1064del (p.Gly355fs)	CHRNE, LOC130060041 (G355fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4B +1 more	GPathogenic
Select item 1482711	NM_000080.4(CHRNE):c.583G>T (p.Asp195Tyr)	C17orf107, CHRNE (D195Y)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4B +1 more	GConflicting classifications of pathogenicity
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 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 1028049	NM_000080.4(CHRNE):c.1222G>A (p.Ala408Thr)	CHRNE (A408T)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4B	GUncertain significance
Select item 973529	NM_000080.4(CHRNE):c.1364ACA[1] (p.Asn456del)	CHRNE (N456del)	Microsatellite (inframe_deletion)	Congenital myasthenic syndrome 4A +1 more	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 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 931856	NM_000080.4(CHRNE):c.3G>A (p.Met1Ile)	CHRNE, C17orf107 (M1I)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 4B	GLikely 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 930868	NM_001145536.2(C17orf107):c.562G>C (p.Gly188Arg)	C17orf107, CHRNE (G188R)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 4B	GUncertain significance
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 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 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 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 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 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 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 465866	NM_000080.4(CHRNE):c.-95G>A	C17orf107, CHRNE	Single nucleotide variant (genic upstream transcript variant)	Congenital myasthenic syndrome 4B +2 more	GPathogenic/Likely pathogenic
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 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 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 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 4B +4 more	GPathogenic
Select item 243030	NM_000080.4(CHRNE):c.130dup (p.Glu44fs)	C17orf107, CHRNE (E44fs)	Duplication (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4A +6 more	GPathogenic
Select item 128764	NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu)	CHRNE (V468L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome +5 more	GBenign/Likely benign
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 128761	NM_000080.4(CHRNE):c.1033-6C>T	CHRNE, LOC130060041	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome +4 more	GBenign
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 40201	NM_000080.4(CHRNE):c.223T>C (p.Trp75Arg)	C17orf107, CHRNE (W75R)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 4B	GPathogenic
Select item 18361	NM_000080.4(CHRNE):c.1291G>C (p.Ala431Pro)	CHRNE (A431P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 18360	NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu)	C17orf107, CHRNE (S163L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 18359	NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg)	C17orf107, CHRNE (G13R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 18358	NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp)	CHRNE (R331W)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4B +2 more	GLikely pathogenic
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 18353	NM_000080.4(CHRNE):c.-96C>T	C17orf107, CHRNE	Single nucleotide variant (genic upstream transcript variant)	Congenital myasthenic syndrome 4C +3 more	GConflicting classifications of pathogenicity
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 51