ALG14[Gene Name] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC126805769, LOC126805770 +548 more	Copy number gain	See cases	GPathogenic
Select item 1037915	NM_144988.4(ALG14):c.641G>A (p.Arg214Gln)	ALG14 (R214Q)	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 2041639	NM_144988.4(ALG14):c.633C>T (p.Tyr211=)	ALG14	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15	GLikely benign
Select item 1931369	NM_144988.4(ALG14):c.626C>T (p.Ser209Leu)	ALG14 (S209L)	Single nucleotide variant (3 prime UTR variant +2 more)	Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies +3 more	GUncertain significance
Select item 2176898	NM_144988.4(ALG14):c.621C>T (p.Pro207=)	ALG14	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15	GLikely benign
Select item 1963395	NM_144988.4(ALG14):c.619C>T (p.Pro207Ser)	ALG14 (P207S)	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 1120640	NM_144988.4(ALG14):c.609A>G (p.Lys203=)	ALG14	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15	GLikely benign
Select item 2194489	NM_144988.4(ALG14):c.600G>A (p.Pro200=)	ALG14	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15	GLikely benign
Select item 1045564	NM_144988.4(ALG14):c.599C>T (p.Pro200Leu)	ALG14 (P200L)	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15 +3 more	GUncertain significance
Select item 839108	NM_144988.4(ALG14):c.570T>A (p.His190Gln)	ALG14 (H190Q)	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 1444819	NM_144988.4(ALG14):c.560T>C (p.Ile187Thr)	ALG14 (I187T)	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 475366	NM_144988.4(ALG14):c.552C>T (p.Ser184=)	ALG14	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15	GLikely benign
Select item 1423184	NM_144988.4(ALG14):c.551C>G (p.Ser184Cys)	ALG14 (S184C)	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 2144995	NM_144988.4(ALG14):c.549G>C (p.Met183Ile)	ALG14 (M183I)	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 475365	NM_144988.4(ALG14):c.546C>T (p.Ser182=)	ALG14	Single nucleotide variant (synonymous variant +2 more)	Congenital myasthenic syndrome 15	GLikely benign
Select item 475364	NM_144988.4(ALG14):c.540G>A (p.Thr180=)	ALG14	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15	GLikely benign
Select item 1505051	NM_144988.4(ALG14):c.539C>T (p.Thr180Met)	ALG14 (T180M)	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 1505343	NM_144988.4(ALG14):c.535G>A (p.Glu179Lys)	ALG14 (E179K)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +4 more	GUncertain significance
Select item 1017450	NM_144988.4(ALG14):c.533T>G (p.Val178Gly)	ALG14 (V178G)	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15 +1 more	GUncertain significance
Select item 1411371	NM_144988.4(ALG14):c.532G>A (p.Val178Ile)	ALG14 (V178I)	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15 +3 more	GUncertain significance
Select item 2109063	NM_144988.4(ALG14):c.531T>G (p.Arg177=)	ALG14	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15	GLikely benign
Select item 2208747	NM_144988.4(ALG14):c.530G>T (p.Arg177Leu)	ALG14 (R177L)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 956425	NM_144988.4(ALG14):c.529C>A (p.Arg177Ser)	ALG14 (R177S)	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 383073	NM_144988.4(ALG14):c.524T>A (p.Ile175Asn)	ALG14 (I175N)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2756742	NM_144988.4(ALG14):c.517G>T (p.Glu173Ter)	ALG14 (E173*)	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 706567	NM_144988.4(ALG14):c.513C>T (p.Tyr171=)	ALG14	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15	GLikely benign
Select item 1370026	NM_144988.4(ALG14):c.503T>G (p.Ile168Ser)	ALG14 (I168S)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 2287352	NM_144988.4(ALG14):c.482T>C (p.Ile161Thr)	ALG14 (I161T)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1959353	NM_144988.4(ALG14):c.478G>A (p.Gly160Arg)	ALG14 (G160R)	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 2438995	NM_144988.4(ALG14):c.474_476dup (p.Leu159_Gly160insLeu)	ALG14	Duplication (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1421403	NM_144988.4(ALG14):c.476T>C (p.Leu159Pro)	ALG14 (L159P)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG14-related condition +1 more	GUncertain significance
Select item 2918809	NM_144988.4(ALG14):c.474C>T (p.Leu158=)	ALG14	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15	GLikely benign
Select item 1474141	NM_144988.4(ALG14):c.464C>T (p.Ser155Phe)	ALG14 (S155F)	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 1513682	NM_144988.4(ALG14):c.451C>T (p.Pro151Ser)	ALG14 (P151S)	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 2324832	NM_144988.4(ALG14):c.448G>A (p.Val150Ile)	ALG14 (V150I)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1160446	NM_144988.4(ALG14):c.432C>T (p.Asn144=)	ALG14	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 15	GLikely benign
Select item 421328	NM_144988.4(ALG14):c.425del (p.Leu142fs)	ALG14 (V155fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1943112	NM_144988.4(ALG14):c.423G>A (p.Val141=)	ALG14 (V154I)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 15	GLikely benign
Select item 652328	NM_144988.4(ALG14):c.422T>G (p.Val141Gly)	ALG14 (V141G)	Single nucleotide variant (synonymous variant +2 more)	Myopathy, epilepsy, and progressive cerebral atrophy +3 more	GUncertain significance
Select item 931162	NM_144988.4(ALG14):c.421G>A (p.Val141Met)	ALG14 (G153D +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 1535567	NM_144988.4(ALG14):c.421-6T>C	ALG14	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 15	GLikely benign
Select item 1277413	NM_144988.4(ALG14):c.421-171A>G	ALG14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223166	NM_144988.4(ALG14):c.420+213G>A	ALG14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815778	NM_144988.4(ALG14):c.420+19A>G	ALG14	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 15	GLikely benign
Select item 1995851	NM_144988.4(ALG14):c.420+17C>T	ALG14	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 15	GLikely benign
Select item 2157428	NM_144988.4(ALG14):c.420+15C>G	ALG14	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 15	GLikely benign
Select item 2157560	NM_144988.4(ALG14):c.420+14T>C	ALG14	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 15	GLikely benign
Select item 978234	NM_144988.4(ALG14):c.420+6_420+9del	ALG14	Microsatellite (splice donor variant)	Congenital myasthenic syndrome 15 +1 more	GConflicting classifications of pathogenicity
Select item 651088	NM_144988.4(ALG14):c.420+5G>A	ALG14	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 1977799	NM_144988.4(ALG14):c.420+1G>A	ALG14	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 835869	NM_144988.4(ALG14):c.406G>A (p.Val136Met)	ALG14 (G148D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2103275	NM_144988.4(ALG14):c.402C>A (p.His134Gln)	ALG14 (H134Q +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 2114811	NM_144988.4(ALG14):c.401A>C (p.His134Pro)	ALG14 (H134P)	Single nucleotide variant (synonymous variant +2 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 1663062	NM_144988.4(ALG14):c.396A>G (p.Leu132=)	ALG14 (N145D)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 15	GLikely benign
Select item 1547783	NM_144988.4(ALG14):c.393C>T (p.Pro131=)	ALG14 (P144S)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 15	GLikely benign
Select item 475363	NM_144988.4(ALG14):c.389T>A (p.Phe130Tyr)	ALG14 (F130Y)	Single nucleotide variant (synonymous variant +2 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 2638934	NM_144988.4(ALG14):c.377T>C (p.Met126Thr)	ALG14 (M126T)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 542123	NM_144988.4(ALG14):c.371A>C (p.His124Pro)	ALG14 (H124P)	Single nucleotide variant (synonymous variant +2 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 772919	NM_144988.4(ALG14):c.354C>T (p.Thr118=)	ALG14 (R131C)	Single nucleotide variant (synonymous variant +2 more)	Congenital myasthenic syndrome 15	GLikely benign
Select item 1046647	NM_144988.4(ALG14):c.342_344del (p.Trp115del)	ALG14 (L127del +1 more)	Deletion (inframe_deletion +1 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 955716	NM_144988.4(ALG14):c.337C>G (p.Gln113Glu)	ALG14 (Q113E +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 2604226	NM_144988.4(ALG14):c.335A>G (p.Gln112Arg)	ALG14 (Q112R)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2208746	NM_144988.4(ALG14):c.332T>C (p.Val111Ala)	ALG14 (V111A)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1392947	NM_144988.4(ALG14):c.328G>A (p.Glu110Lys)	ALG14 (E110K +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 15 +1 more	GUncertain significance
Select item 379351	NM_144988.4(ALG14):c.326G>A (p.Arg109Gln)	ALG14 (R109Q)	Single nucleotide variant (synonymous variant +2 more)	Myopathy, epilepsy, and progressive cerebral atrophy +3 more	GUncertain significance
Select item 434125	NM_144988.4(ALG14):c.325C>T (p.Arg109Trp)	ALG14 (R109W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1304004	NM_144988.4(ALG14):c.323G>A (p.Ser108Asn)	ALG14 (S108N)	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GUncertain significance
Select item 1949346	NM_144988.4(ALG14):c.313A>G (p.Ile105Val)	ALG14 (I105V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 657720	NM_144988.4(ALG14):c.311G>A (p.Arg104Gln)	ALG14 (R104Q)	Single nucleotide variant (synonymous variant +2 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 183014	NM_144988.4(ALG14):c.310C>T (p.Arg104Ter)	ALG14 (R104* +1 more)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 15 +1 more	GConflicting classifications of pathogenicity
Select item 3030539	NM_144988.4(ALG14):c.305T>A (p.Ile102Asn)	ALG14 (H114Q +1 more)	Single nucleotide variant (missense variant +1 more)	ALG14-related condition	GUncertain significance
Select item 706372	NM_144988.4(ALG14):c.291T>C (p.Tyr97=)	ALG14 (Y110H)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 15 +2 more	GBenign
Select item 1045748	NM_144988.4(ALG14):c.289-2A>G	ALG14	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 1631915	NM_144988.4(ALG14):c.289-4C>T	ALG14	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 15	GLikely benign
Select item 3051090	NM_144988.4(ALG14):c.289-8631T>C	ALG14	Single nucleotide variant (intron variant)	ALG14-related condition	GLikely benign
Select item 2041272	NM_144988.4(ALG14):c.288+18_288+23del	ALG14, ALG14-AS1	Microsatellite (intron variant)	Congenital myasthenic syndrome 15	GLikely benign
Select item 1170538	NM_144988.4(ALG14):c.288+11A>G	ALG14, ALG14-AS1	Single nucleotide variant (intron variant)	Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies +3 more	GBenign/Likely benign
Select item 1955538	NM_144988.4(ALG14):c.288+9C>T	ALG14, ALG14-AS1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 15	GLikely benign
Select item 1486917	NM_144988.4(ALG14):c.288+4A>G	ALG14-AS1, ALG14	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 15 +3 more	GUncertain significance
Select item 2849275	NM_144988.4(ALG14):c.288G>T (p.Met96Ile)	ALG14, ALG14-AS1 (M96I)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 2616914	NM_144988.4(ALG14):c.287T>C (p.Met96Thr)	ALG14, ALG14-AS1 (M96T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1058515	NM_144988.4(ALG14):c.280A>G (p.Ser94Gly)	ALG14, ALG14-AS1 (S94G)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 962552	NM_144988.4(ALG14):c.277C>G (p.Pro93Ala)	ALG14, ALG14-AS1 (P93A)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 2034246	NM_144988.4(ALG14):c.263G>A (p.Arg88Gln)	ALG14-AS1, ALG14 (R88Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 2898663	NM_144988.4(ALG14):c.262C>A (p.Arg88=)	ALG14, ALG14-AS1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 15	GLikely benign
Select item 1361709	NM_144988.4(ALG14):c.248C>A (p.Ser83Tyr)	ALG14, ALG14-AS1 (S83Y)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 842849	NM_144988.4(ALG14):c.245A>G (p.Asn82Ser)	ALG14, ALG14-AS1 (N82S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2248389	NM_144988.4(ALG14):c.235A>C (p.Asn79His)	ALG14, ALG14-AS1 (N79H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2959614	NM_144988.4(ALG14):c.234C>A (p.Ala78=)	ALG14, ALG14-AS1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 15	GLikely benign
Select item 2506613	NM_144988.4(ALG14):c.222T>A (p.Asp74Glu)	ALG14, ALG14-AS1 (D74E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 389968	NM_144988.4(ALG14):c.220G>A (p.Asp74Asn)	ALG14, ALG14-AS1 (D74N)	Single nucleotide variant (missense variant)	Myopathy, epilepsy, and progressive cerebral atrophy +2 more	GConflicting classifications of pathogenicity
Select item 1919411	NM_144988.4(ALG14):c.210T>G (p.Ile70Met)	ALG14, ALG14-AS1 (I70M)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 2051740	NM_144988.4(ALG14):c.203A>G (p.Tyr68Cys)	ALG14, ALG14-AS1 (Y68C)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 1308209	NM_144988.4(ALG14):c.200A>G (p.His67Arg)	ALG14, ALG14-AS1 (H67R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180532	NM_144988.4(ALG14):c.199C>T (p.His67Tyr)	ALG14-AS1, ALG14 (H67Y)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 183013	NM_144988.4(ALG14):c.194C>T (p.Pro65Leu)	ALG14, ALG14-AS1 (P65L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 15	GPathogenic
Select item 1047475	NM_144988.4(ALG14):c.191C>T (p.Ser64Leu)	ALG14, ALG14-AS1 (S64L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 2075761	NM_144988.4(ALG14):c.190T>C (p.Ser64Pro)	ALG14, ALG14-AS1 (S64P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 542122	NM_144988.4(ALG14):c.182A>G (p.Asn61Ser)	ALG14, ALG14-AS1 (N61S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 15 +3 more	GUncertain significance
Select item 1364291	NM_144988.4(ALG14):c.181A>G (p.Asn61Asp)	ALG14, ALG14-AS1 (N61D)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies +3 more	GUncertain significance

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