"Baylor Genetics"[submitter] AND "ALG12"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 560937	NM_024105.4(ALG12):c.930_931del (p.Arg311fs)	ALG12 (R311fs)	Deletion (frameshift variant)	ALG12-congenital disorder of glycosylation	GPathogenic
Select item 3435	NM_024105.4(ALG12):c.437G>A (p.Arg146Gln)	ALG12 (R146Q)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 1028293	NM_024105.4(ALG12):c.242C>T (p.Ala81Val)	ALG12 (A81V)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 625738	GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759)	ACR, ADM2 +60 more	Copy number loss	not provided	GPathogenic
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 625663	GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264)	ACR, ADM2 +34 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic

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