Related gene-specific medical variations for Gene (Select 79868) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690884	NM_001099922.3(ALG13):c.592A>G (p.Thr198Ala)	ALG13 (T120A +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 2690883	NM_001099922.3(ALG13):c.1154T>G (p.Ile385Ser)	ALG13 (I281S +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 2441630	NM_001099922.3(ALG13):c.1931C>T (p.Pro644Leu)	ALG13 (P482L +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 2438994	NM_001099922.3(ALG13):c.527C>T (p.Thr176Ile)	ALG13 (T176I +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 2438992	NM_001099922.3(ALG13):c.770A>G (p.His257Arg)	ALG13 (H153R +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 2438991	NM_001099922.3(ALG13):c.1655C>G (p.Pro552Arg)	ALG13 (P390R +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 2438988	NM_001099922.3(ALG13):c.1671G>T (p.Met557Ile)	ALG13 (M395I +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 2438987	NM_001099922.3(ALG13):c.1685G>C (p.Gly562Ala)	ALG13 (G400A +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 1344836	NM_001099922.3(ALG13):c.2272G>T (p.Val758Phe)	ALG13 (V596F +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GLikely pathogenic
Select item 975488	NM_001099922.3(ALG13):c.1250+7A>G	ALG13	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 687168	GRCh37/hg19 Xq23(chrX:110906272-110958618)x3	ALG13	Copy number gain	not provided	GUncertain significance
Select item 564885	GRCh37/hg19 Xq23(chrX:110738880-110952404)x2	ALG13	Copy number gain	not provided	GUncertain significance
Select item 443288	GRCh37/hg19 Xq23(chrX:110974966-110980986)x0	ALG13	Copy number loss	See cases	GUncertain significance
Select item 374621	NM_001099922.3(ALG13):c.128G>A (p.Arg43Lys)	ALG13 (R43K)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance