ClinVar for MedGen (Select 433004) - 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 9251	NM_005018.3(PDCD1):c.627+189G>C	PDCD1	Single nucleotide variant (intron variant)	Systemic lupus erythematosus, association wit 2 +1 more	Grisk factor
Select item 8184	NM_001394783.1(CCR5):c.554_585del (p.Ser185fs)	CCR5, CCR5AS (S185fs)	Deletion (frameshift variant)	CCR5-related condition +1 more	GBenign