ClinVar for MedGen (Select 1759589) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1931369	NM_144988.4(ALG14):c.626C>T (p.Ser209Leu)	ALG14 (S209L)	Single nucleotide variant (3 prime UTR variant +2 more)	Myopathy, epilepsy, and progressive cerebral atrophy +3 more	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 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 1411371	NM_144988.4(ALG14):c.532G>A (p.Val178Ile)	ALG14 (V178I)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases +4 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 1356542	NM_144988.4(ALG14):c.16G>A (p.Val6Ile)	ALG14, LOC129930989 (V6I)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1304004	NM_144988.4(ALG14):c.323G>A (p.Ser108Asn)	ALG14 (S108N)	Single nucleotide variant (synonymous variant +2 more)	Myopathy, epilepsy, and progressive cerebral atrophy +3 more	GUncertain significance
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 1045564	NM_144988.4(ALG14):c.599C>T (p.Pro200Leu)	ALG14 (P200L)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 978234	NM_144988.4(ALG14):c.420+6_420+9del	ALG14	Microsatellite (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 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 379351	NM_144988.4(ALG14):c.326G>A (p.Arg109Gln)	ALG14 (R109Q)	Single nucleotide variant (synonymous variant +2 more)	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 +4 more	GBenign/Likely benign