C0035335[trait identifier] AND "Medgenome Labs Pvt Ltd"[submitter] - 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 1064435	NM_000321.3(RB1):c.1050-8_1050-2del	RB1	Deletion (splice acceptor variant)	Retinoblastoma	GPathogenic
Select item 1064436	NM_000321.3(RB1):c.1331A>C (p.Gln444Pro)	RB1 (Q444P)	Single nucleotide variant (missense variant)	Retinoblastoma	GLikely pathogenic
Select item 1064437	NM_000321.3(RB1):c.1699T>C (p.Ser567Pro)	RB1 (S567P)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance

Format

Sort by

Choose Destination