ClinVar for MedGen (Select 14445) - ClinVar

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

Format

Sort by

Choose Destination

Links from MedGen

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1300132	NM_001045.6(SLC6A4):c.1745dup (p.Thr583fs)	SLC6A4 (T583fs)	Duplication (frameshift variant)	Obsessive-compulsive disorder	GLikely pathogenic
Select item 1031015	NM_001045.6(SLC6A4):c.837+2T>C	SLC6A4	Single nucleotide variant (splice donor variant)	Obsessive-compulsive disorder	GUncertain significance