"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ALG9"[gene - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 302402	NM_024740.2(ALG9):c.*1681dup	ALG9	Duplication (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 302403	NM_024740.2(ALG9):c.*1680G>T	ALG9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 374733	NM_024740.2(ALG9):c.1659C>T (p.Pro553=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 166678	NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu)	ALG9 (P513L +6 more)	Single nucleotide variant (missense variant +1 more)	Gillessen-Kaesbach-Nishimura syndrome +4 more	GBenign/Likely benign
Select item 380142	NM_024740.2(ALG9):c.1383C>T (p.Thr461=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 444271	NM_024740.2(ALG9):c.1251G>A (p.Ser417=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 162619	NM_024740.2(ALG9):c.1173+2T>A	ALG9	Single nucleotide variant (splice donor variant)	Gillessen-Kaesbach-Nishimura syndrome +1 more	GConflicting classifications of pathogenicity
Select item 390682	NM_024740.2(ALG9):c.945T>C (p.Asn315=)	ALG9	Single nucleotide variant (synonymous variant +2 more)	ALG9 congenital disorder of glycosylation +3 more	GLikely benign
Select item 2642366	NM_024740.2(ALG9):c.912T>C (p.Tyr304=)	ALG9	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2642367	NM_024740.2(ALG9):c.684A>G (p.Pro228=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 506455	NM_024740.2(ALG9):c.537C>T (p.Leu179=)	ALG9	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GLikely benign