"Victorian Clinical Genetics Services, Murdoch Childrens Research Inst - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193418	NM_019109.4(ALG1):c.149A>G (p.Gln50Arg)	ALG1, LOC130058384	Single nucleotide variant	not provided +1 more	GPathogenic/Likely pathogenic
Select item 4724	NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)	ALG1 (S147L)	Single nucleotide variant (missense variant)	Encephalopathy +4 more	GPathogenic/Likely pathogenic
Select item 224118	NM_019109.5(ALG1):c.1187+3A>G	ALG1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation +5 more	GPathogenic/Likely pathogenic

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ClinVar