"Eurofins Ntd Llc (ga)"[submitter] AND "ALG9"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 166678	NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu)	ALG9 (P513L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 285874	NM_024740.2(ALG9):c.1436G>A (p.Trp479Ter)	ALG9 (W479* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 380142	NM_024740.2(ALG9):c.1383C>T (p.Thr461=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 166679	NM_024740.2(ALG9):c.1031G>A (p.Gly344Asp)	ALG9 (G344D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 96136	NM_024740.2(ALG9):c.764C>T (p.Ser255Leu)	ALG9 (S255L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 598383	NM_024740.2(ALG9):c.741G>T (p.Arg247Ser)	ALG9 (R247S +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +3 more	GUncertain significance
Select item 96135	NM_024740.2(ALG9):c.694G>C (p.Ala232Pro)	ALG9 (A232P +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +3 more	GConflicting classifications of pathogenicity
Select item 96134	NM_024740.2(ALG9):c.406-7C>T	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation +2 more	GBenign
Select item 96133	NM_024740.2(ALG9):c.132-13T>G	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation +2 more	GBenign