"OMIM"[submitter] AND "ALG13"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 423341	NM_001099922.3(ALG13):c.241G>A (p.Ala81Thr)	ALG13 (A81T)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 39775	NM_001099922.3(ALG13):c.280A>G (p.Lys94Glu)	ALG13 (K94E +3 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 36	GPathogenic
Select item 66086	NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)	ALG13 (N107S +3 more)	Single nucleotide variant (missense variant +2 more)	Seizure +4 more	GPathogenic
Select item 88736	NM_001099922.3(ALG13):c.383+2821_383+2822delinsTT	ALG13 (T141L +4 more)	Indel (missense variant +3 more)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 696674	NM_001099922.3(ALG13):c.1388A>G (p.Glu463Gly)	ALG13 (E463G +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GLikely benign
Select item 1344834	NM_001099922.3(ALG13):c.2458-15_2486del	ALG13	Deletion (splice acceptor variant)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 1344833	NM_001099922.3(ALG13):c.3013C>T (p.Pro1005Ser)	ALG13 (P1005S +4 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental delay +1 more	GPathogenic/Likely pathogenic

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