"Revvity Omics, Revvity"[submitter] AND "ALG13"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2438993	NM_001099922.3(ALG13):c.286C>T (p.Leu96Phe)	ALG13 (L18F +3 more)	Single nucleotide variant (missense variant +2 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 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 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 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 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 423497	NM_001099922.3(ALG13):c.2485A>G (p.Met829Val)	ALG13 (M829V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1506833	NM_001099922.3(ALG13):c.2495A>C (p.Gln832Pro)	ALG13 (Q670P +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 509101	NM_001099922.3(ALG13):c.2570A>G (p.Asn857Ser)	ALG13 (N857S +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 36 +1 more	GConflicting classifications of pathogenicity
Select item 195934	NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr)	ALG13 (C992Y +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity