C4014795[trait identifier] AND "Department of Laboratory Medicine, Yon - 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 421171	NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu)	STAT3 (P715L +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic
Select item 18304	NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp)	STAT3 (R382W +4 more)	Single nucleotide variant (missense variant)	STAT3 gain of function +3 more	GPathogenic