"Broad Center for Mendelian Genomics, Broad Institute of MIT and Harva - 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 813996	NM_001278431.2(C1QTNF5):c.562C>G (p.Pro188Ala)	C1QTNF5, MFRP (P188A)	Single nucleotide variant (missense variant +1 more)	Late-onset retinal degeneration	GLikely pathogenic
Select item 813997	NM_001278431.2(C1QTNF5):c.561G>T (p.Lys187Asn)	MFRP, C1QTNF5 (K187N)	Single nucleotide variant (missense variant +1 more)	Late-onset retinal degeneration	GUncertain significance