"Eurofins Ntd Llc (ga)"[submitter] AND "ALG11"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 285663	NM_001004127.3(ALG11):c.97G>A (p.Val33Met)	ALG11 (V33M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195102	NM_001004127.3(ALG11):c.137T>C (p.Leu46Pro)	ALG11 (L46P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196291	NM_001004127.3(ALG11):c.323A>G (p.Asn108Ser)	ALG11 (N108S)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation +2 more	GBenign
Select item 502710	NM_001004127.3(ALG11):c.789C>T (p.Asn263=)	ALG11	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 196292	NM_001004127.3(ALG11):c.802C>A (p.Leu268Ile)	ALG11 (L268I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 166671	NM_001004127.3(ALG11):c.1183A>G (p.Met395Val)	ALG11, UTP14C (M395V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 93443	NM_001004127.3(ALG11):c.1241T>A (p.Ile414Asn)	UTP14C, ALG11 (I414N)	Single nucleotide variant (missense variant +2 more)	ALG11-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 166672	NM_001004127.3(ALG11):c.1309T>G (p.Phe437Val)	ALG11, UTP14C (F437V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance