Related gene-specific medical variations for Gene (Select 101928098) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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, ALG14-AS1 (H67Y)	Single nucleotide variant (missense variant)	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 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 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 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, ALG14-AS1 (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 1486917	NM_144988.4(ALG14):c.288+4A>G	ALG14, ALG14-AS1	Single nucleotide variant (intron variant)	Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies +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)	Inborn genetic diseases +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)	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 1191007	NM_144988.4(ALG14):c.137-97C>T	ALG14, ALG14-AS1	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 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 842849	NM_144988.4(ALG14):c.245A>G (p.Asn82Ser)	ALG14-AS1, ALG14 (N82S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 +4 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 390702	NM_144988.4(ALG14):c.179C>G (p.Ser60Cys)	ALG14, ALG14-AS1 (S60C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 389968	NM_144988.4(ALG14):c.220G>A (p.Asp74Asn)	ALG14, ALG14-AS1 (D74N)	Single nucleotide variant (missense variant)	Congenital myopathy +4 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)	Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies +3 more	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

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Items: 37