ClinVar for MedGen (Select 1841215) - 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 2505503	NM_015058.2(VWA8):c.[3070G>A;4558C>T]	VWA8 (R1520*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 97	GPathogenic
Select item 617841	NM_015058.2(VWA8):c.2003G>A (p.Arg668Gln)	VWA8 (R668Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 97 +1 more	GBenign/Likely benign