"Revvity Omics, Revvity"[submitter] AND "SI"[gene] - ClinVar - NCBI

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

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 903059	NM_001041.4(SI):c.5109-3T>C	SI	Single nucleotide variant (intron variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
Select item 344003	NM_001041.4(SI):c.4951G>A (p.Val1651Ile)	SI (V1651I)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1606199	NM_001041.4(SI):c.3972A>G (p.Pro1324=)	SI	Single nucleotide variant (synonymous variant)	Sucrase-isomaltase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1419	NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)	SI (G1073D)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 418676	NM_001041.4(SI):c.3186_3187del (p.Leu1062_Tyr1063insTer)	SI	Deletion (frameshift variant)	Sucrase-isomaltase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 344034	NM_001041.4(SI):c.2923T>C (p.Tyr975His)	SI (Y975H)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1323594	NM_001041.4(SI):c.2242C>T (p.Gln748Ter)	SI (Q748*)	Single nucleotide variant (nonsense)	Sucrase-isomaltase deficiency	GPathogenic
Select item 1418	NM_001041.4(SI):c.1730T>G (p.Val577Gly)	SI (V577G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 489002	NM_001041.4(SI):c.853G>T (p.Glu285Ter)	SI (E285*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic