C3806746[trait identifier] AND "3billion"[submitter] - 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 2073589	NM_001039591.3(USP9X):c.4882C>A (p.Pro1628Thr)	USP9X (P1628T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99 +2 more	GConflicting classifications of pathogenicity
Select item 1321280	NM_001039591.3(USP9X):c.5190G>T (p.Arg1730Ser)	USP9X (R1730S)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GUncertain significance