"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1285126	NM_006929.5(SKIC2):c.116C>T (p.Pro39Leu)	SKIC2 (P39L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 356328	NM_006929.5(SKIC2):c.1705G>A (p.Val569Met)	SKIC2 (V569M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 356353	NM_006929.5(SKIC2):c.3666G>A (p.Leu1222=)	SKIC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity

Format

Sort by

Choose Destination

ClinVar