ClinVar (all) for Orgtrack (Select 506251) - ClinVar

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

Format

Sort by

Choose Destination

Links from Orgtrack

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 598939	NM_001370298.3(FGD4):c.2622dup (p.Ala875fs)	FGD4 (A554fs +5 more)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 4H	GPathogenic
Select item 598938	NM_001370298.3(FGD4):c.925del (p.Ala309fs)	FGD4 (A257fs +3 more)	Deletion (frameshift variant +3 more)	Charcot-Marie-Tooth disease type 4H	GPathogenic
Select item 430695	NM_001042472.3(ABHD12):c.211_223del (p.Arg71fs)	ABHD12 (R71fs)	Deletion (frameshift variant)	not provided	GPathogenic

Format

Sort by

Choose Destination