C1832736[trait identifier] AND "University of Washington Center for Me - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184850	NM_005787.6(ALG3):c.1154G>C (p.Arg385Thr)	ALG3 (R337T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	ALG3-congenital disorder of glycosylation	GPathogenic
Select item 521583	NM_005787.6(ALG3):c.991C>T (p.Gln331Ter)	ALG3 (Q331* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 996585	NM_005787.6(ALG3):c.953C>T (p.Ser318Leu)	ALG3 (S270L +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 521582	NM_005787.6(ALG3):c.914C>A (p.Ala305Asp)	ALG3 (A305D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1184848	NM_005787.6(ALG3):c.796C>T (p.Arg266Cys)	ALG3 (R218C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 427137	NM_005787.6(ALG3):c.752T>C (p.Leu251Pro)	ALG3 (L251P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1184847	NM_005787.6(ALG3):c.749T>A (p.Leu250Gln)	ALG3 (L202Q +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1184846	NM_005787.6(ALG3):c.656T>C (p.Leu219Pro)	ALG3 (L171P +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GPathogenic
Select item 1184849	NM_005787.6(ALG3):c.611C>T (p.Ala204Val)	ALG3 (A156V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1184851	NM_005787.6(ALG3):c.521A>G (p.Asn174Ser)	ALG3 (N126S +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely pathogenic
Select item 2129	NM_005787.6(ALG3):c.512G>A (p.Arg171Gln)	ALG3 (R171Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1184852	NM_005787.6(ALG3):c.410_411insTGTCTTCTTGCT (p.Leu137_Leu138insValPheLeuLeu)	ALG3	Insertion (inframe_insertion +1 more)	ALG3-congenital disorder of glycosylation	GLikely pathogenic
Select item 427138	NM_005787.6(ALG3):c.395A>G (p.Tyr132Cys)	ALG3 (Y132C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1172674	NM_005787.6(ALG3):c.72G>A (p.Trp24Ter)	ALG3 (W24*)	Single nucleotide variant (nonsense +2 more)	ALG3-congenital disorder of glycosylation	GPathogenic