C1842836[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 265036	NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys)	ALG2 (R378C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1041171	NM_033087.4(ALG2):c.945C>T (p.Cys315=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 364206	NM_033087.4(ALG2):c.934C>T (p.Leu312Phe)	ALG2 (L312F)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 96238	NM_033087.4(ALG2):c.760T>C (p.Leu254=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 390397	NM_033087.4(ALG2):c.475A>G (p.Ile159Val)	ALG2 (I159V)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +4 more	GConflicting classifications of pathogenicity
Select item 381447	NM_033087.4(ALG2):c.349-17A>G	ALG2	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 14 +2 more	GBenign/Likely benign
Select item 382799	NM_033087.4(ALG2):c.167C>T (p.Pro56Leu)	ALG2 (P56L)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +3 more	GConflicting classifications of pathogenicity
Select item 166675	NM_033087.4(ALG2):c.17G>C (p.Gly6Ala)	ALG2 (G6A)	Single nucleotide variant (missense variant +1 more)	ALG2-related disorder +4 more	GBenign/Likely benign