C4015555[trait identifier] AND "Center for Genomic Medicine, King Fais - 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 3068259	NM_173689.7(CRB2):c.1396C>T (p.Arg466Cys)	CRB2 (R466C)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis 9	GUncertain significance
Select item 3220913	NM_173689.7(CRB2):c.3262G>A (p.Gly1088Ser)	CRB2 (G1088S)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis 9	GLikely pathogenic