ClinVar for Gene (Select 199857) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063166	GRCh37/hg19 1p22.1-21.3(chr1:94304238-97280301)x3	ABCA4, ABCD3 +11 more	Copy number gain	not specified	GUncertain significance
Select item 3051090	NM_144988.4(ALG14):c.289-8631T>C	ALG14	Single nucleotide variant (intron variant)	ALG14-related condition	GLikely benign
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 3030136	NM_144988.4(ALG14):c.155T>A (p.Ile52Asn)	ALG14, ALG14-AS1 (I52N)	Single nucleotide variant (missense variant)	ALG14-related condition	GUncertain significance
Select item 3014237	NM_144988.4(ALG14):c.138T>C (p.Gly46=)	ALG14, ALG14-AS1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 15	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 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 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 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 2820844	NM_144988.4(ALG14):c.137-8T>C	ALG14, ALG14-AS1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 15	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 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 2738007	NM_144988.4(ALG14):c.136+10G>A	ALG14, LOC129930989	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 15	GLikely benign
Select item 2728117	NM_144988.4(ALG14):c.6G>A (p.Val2=)	ALG14, LOC129930989	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 15	GLikely benign
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 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 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 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 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 2380490	NM_144988.4(ALG14):c.163C>G (p.Leu55Val)	ALG14, ALG14-AS1 (L55V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 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 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 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 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 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 2157560	NM_144988.4(ALG14):c.420+14T>C	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 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 2133701	NM_144988.4(ALG14):c.82T>C (p.Ser28Pro)	ALG14, LOC129930989 (S28P)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 2119320	NM_144988.4(ALG14):c.137-15T>C	ALG14, ALG14-AS1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 15	GLikely benign
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 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 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 2091129	NM_144988.4(ALG14):c.20T>C (p.Leu7Pro)	ALG14, LOC129930989 (L7P)	Single nucleotide variant (missense variant +1 more)	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 2074028	NM_144988.4(ALG14):c.136+18G>T	ALG14, LOC129930989	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 15	GLikely benign
Select item 2067329	NM_144988.4(ALG14):c.132G>A (p.Gly44=)	ALG14, LOC129930989	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 15	GLikely benign
Select item 2061194	NM_144988.4(ALG14):c.24T>A (p.Ala8=)	ALG14, LOC129930989	Single nucleotide variant (synonymous variant +1 more)	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 2049167	NM_144988.4(ALG14):c.127G>C (p.Ala43Pro)	ALG14, LOC129930989 (A43P)	Single nucleotide variant (missense variant +1 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 2041272	NM_144988.4(ALG14):c.288+18_288+23del	ALG14, ALG14-AS1	Microsatellite (intron variant)	Congenital myasthenic syndrome 15	GLikely benign
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 1995851	NM_144988.4(ALG14):c.420+17C>T	ALG14	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 15	GLikely benign
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 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 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 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 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 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 1937995	NM_144988.4(ALG14):c.165G>A (p.Leu55=)	ALG14, ALG14-AS1	Single nucleotide variant (synonymous variant)	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 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 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 1631915	NM_144988.4(ALG14):c.289-4C>T	ALG14	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 15	GLikely benign
Select item 1626828	NM_144988.4(ALG14):c.136+17C>A	ALG14, LOC129930989	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 15	GLikely benign
Select item 1604223	NM_144988.4(ALG14):c.9C>T (p.Cys3=)	ALG14, LOC129930989	Single nucleotide variant (synonymous variant +1 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 1535567	NM_144988.4(ALG14):c.421-6T>C	ALG14	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 15	GLikely benign
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
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 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 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 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 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 1466027	NM_144988.4(ALG14):c.80G>T (p.Arg27Leu)	ALG14, LOC129930989 (R27L)	Single nucleotide variant (missense variant +1 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 1444164	NC_000001.10:g.(?_95448632)_(95538454_?)dup	ALG14	Duplication	Congenital myasthenic syndrome 15	GUncertain significance
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 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 1413903	NM_144988.4(ALG14):c.66A>G (p.Ile22Met)	ALG14, LOC129930989 (I22M)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 1412749	NC_000001.10:g.(?_95538299)_(95538454_?)del	ALG14	Deletion	Congenital myasthenic syndrome 15	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 1408192	NM_144988.4(ALG14):c.109C>T (p.Leu37Phe)	ALG14, LOC129930989 (L37F)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 15	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 1388664	NM_144988.4(ALG14):c.136+10G>C	ALG14, LOC129930989	Single nucleotide variant (intron variant)	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 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
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 1356542	NM_144988.4(ALG14):c.16G>A (p.Val6Ile)	ALG14, LOC129930989 (V6I)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 15 +3 more	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 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 1277413	NM_144988.4(ALG14):c.421-171A>G	ALG14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267038	NM_144988.4(ALG14):c.137-136C>T	ALG14, ALG14-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263265	NC_000001.11:g.95073061C>G	ALG14, LOC129930989	Single nucleotide 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 1222201	NC_000001.11:g.95073027G>A	ALG14, LOC129930989	Single nucleotide variant	not provided	GBenign
Select item 1214514	NM_144988.4(ALG14):c.136+105C>G	ALG14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213021	NM_144988.4(ALG14):c.-6C>G	ALG14, LOC129930989	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1195444	NC_000001.11:g.95073057C>T	ALG14, LOC129930989	Single nucleotide variant	not provided	GLikely benign
Select item 1191007	NM_144988.4(ALG14):c.137-97C>T	ALG14-AS1, ALG14	Single nucleotide variant (intron variant)	not provided	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 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 1151662	NM_144988.4(ALG14):c.36A>G (p.Gly12=)	ALG14, LOC129930989	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 15	GLikely benign
Select item 1139102	NM_144988.4(ALG14):c.111C>T (p.Leu37=)	ALG14, LOC129930989	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 15	GLikely benign
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 1073069	NC_000001.10:g.(?_94458793)_(95538454_?)del	ABCA4, ABCD3 +5 more	Deletion	not provided	GPathogenic

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