C2931005[trait identifier] AND "Undiagnosed Diseases Network, NIH"[sub - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522809	NM_019109.5(ALG1):c.876C>G (p.Phe292Leu)	ALG1 (F181L)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GLikely pathogenic
Select item 522808	NM_019109.5(ALG1):c.877T>C (p.Ser293Pro)	ALG1 (S182P)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GLikely 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