"Baylor Genetics"[submitter] AND "RPS6KA3"[gene] - 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 1030820	NM_004586.3(RPS6KA3):c.1443+6T>C	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome	GUncertain significance
Select item 3238824	NM_004586.3(RPS6KA3):c.697G>T (p.Glu233Ter)	RPS6KA3 (E233*)	Single nucleotide variant (nonsense)	Coffin-Lowry syndrome	GPathogenic
Select item 625794	GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392)	ACE2, ACOT9 +94 more	Copy number gain	not provided	GPathogenic

Format

Sort by

Choose Destination