ClinVar for MedGen (Select 98093) - 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 523385	NM_001009944.3(PKD1):c.226C>T (p.His76Tyr)	PKD1 (H76Y)	Single nucleotide variant (missense variant)	Overlapping fingers +12 more	GUncertain significance
Select item 267833	46;XY;t(6;12)(q14;q24);20p+dn		Complex	Unilateral renal agenesis +14 more	GPathogenic
Select item 30591	NM_020634.3(GDF3):c.796C>T (p.Arg266Cys)	GDF3 (R266C)	Single nucleotide variant (missense variant)	Supernumerary ribs +5 more	GConflicting classifications of pathogenicity

Format

Sort by

Choose Destination