ClinVar for MedGen (Select 342832) - 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 1803730	NM_024702.3(ZNF750):c.39_49del (p.His13fs)	TBCD, ZNF750 (H13fs)	Deletion (frameshift variant +1 more)	Seborrhea-like dermatitis with psoriasiform elements	GUncertain significance
Select item 1295	NM_024702.3(ZNF750):c.55_56dup (p.Gly20fs)	TBCD, ZNF750 (G20fs)	Duplication (frameshift variant +1 more)	Seborrhea-like dermatitis with psoriasiform elements	GPathogenic