"Institute of Human Genetics, Cologne University"[submitter] AND "LRP2 - ClinVar

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 625858	NM_004525.3(LRP2):c.2474T>G (p.Leu825Ter)	LRP2 (L825*)	Single nucleotide variant (nonsense)	Donnai-Barrow syndrome	GPathogenic
Select item 625857	NM_004525.3(LRP2):c.832C>T (p.Arg278Ter)	LRP2 (R278*)	Single nucleotide variant (nonsense)	Donnai-Barrow syndrome +1 more	GPathogenic/Likely pathogenic