Related gene-specific medical variations for Gene (Select 199857) - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248634	NM_144988.4(ALG14):c.133T>C (p.Ser45Pro)	ALG14, LOC129930989 (S45P)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 3234955	NM_144988.4(ALG14):c.37G>T (p.Ala13Ser)	ALG14, LOC129930989 (A13S)	Single nucleotide variant (missense variant +1 more)	Myopathy, epilepsy, and progressive cerebral atrophy	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 disorder	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1408192	NM_144988.4(ALG14):c.109C>T (p.Leu37Phe)	ALG14, LOC129930989 (L37F)	Single nucleotide variant (missense variant +1 more)	not provided +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 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 1267038	NM_144988.4(ALG14):c.137-136C>T	ALG14, ALG14-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 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 939874	NM_144988.4(ALG14):c.38C>T (p.Ala13Val)	ALG14, LOC129930989 (A13V)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 933844	NM_144988.4(ALG14):c.83C>A (p.Ser28Tyr)	ALG14, LOC129930989 (S28Y)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 15	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 857180	NM_144988.4(ALG14):c.113G>A (p.Ser38Asn)	ALG14, LOC129930989 (S38N)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 842849	NM_144988.4(ALG14):c.245A>G (p.Asn82Ser)	ALG14, ALG14-AS1 (N82S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 15 +1 more	GUncertain significance
Select item 765742	NM_144988.4(ALG14):c.21A>G (p.Leu7=)	ALG14, LOC129930989	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 15	GLikely benign
Select item 662491	NM_144988.4(ALG14):c.136+1G>C	ALG14, LOC129930989	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 15 +2 more	GConflicting classifications of pathogenicity
Select item 644995	NM_144988.4(ALG14):c.98C>T (p.Pro33Leu)	ALG14, LOC129930989 (P33L)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 542125	NM_144988.4(ALG14):c.40G>A (p.Val14Met)	ALG14, LOC129930989 (V14M)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 15	GLikely benign
Select item 542124	NM_144988.4(ALG14):c.86T>C (p.Met29Thr)	ALG14, LOC129930989 (M29T)	Single nucleotide variant (non-coding transcript variant +1 more)	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 516659	NM_144988.4(ALG14):c.137-18T>A	ALG14, ALG14-AS1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 15 +3 more	GBenign
Select item 475362	NM_144988.4(ALG14):c.171G>A (p.Gly57=)	ALG14, ALG14-AS1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 15	GBenign
Select item 421218	NM_144988.4(ALG14):c.100dup (p.Arg34fs)	ALG14, LOC129930989 (R34fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 390702	NM_144988.4(ALG14):c.179C>G (p.Ser60Cys)	ALG14, ALG14-AS1 (S60C)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies +3 more	GUncertain significance
Select item 389968	NM_144988.4(ALG14):c.220G>A (p.Asp74Asn)	ALG14, ALG14-AS1 (D74N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 383072	NM_144988.4(ALG14):c.140G>T (p.Gly47Val)	ALG14, ALG14-AS1 (G47V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 376840	NM_144988.4(ALG14):c.31G>A (p.Ala11Thr)	ALG14, LOC129930989 (A11T)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies +5 more	GBenign/Likely benign
Select item 287329	NM_144988.4(ALG14):c.113G>T (p.Ser38Ile)	LOC129930989, ALG14 (S38I)	Single nucleotide variant (missense variant +1 more)	ALG14-related disorder +3 more	GConflicting classifications of pathogenicity
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

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