C0338503[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1206790	NM_003865.3(HESX1):c.475C>T (p.Arg159Trp)	HESX1 (R159W)	Single nucleotide variant (missense variant +1 more)	Septo-optic dysplasia sequence +2 more	GConflicting classifications of pathogenicity
Select item 267733	NM_003865.3(HESX1):c.385G>A (p.Val129Ile)	HESX1 (V129I)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence +2 more	GConflicting classifications of pathogenicity