ClinVar for MedGen (Select 1373199) - 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 1327974	NM_001030.6(RPS27):c.116-45_116-44dup	LOC126805872, RPS27	Duplication (intron variant)	Diamond-Blackfan anemia 17	GBenign
Select item 417765	NM_001030.6(RPS27):c.90del (p.Tyr31fs)	LOC126805872, RPS27 (Y31fs)	Deletion (frameshift variant +1 more)	Diamond-Blackfan anemia 17	GPathogenic