"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 436090	NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)	OCA2 (G780D +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 438059	NM_000275.3(OCA2):c.1660T>C (p.Trp554Arg)	OCA2 (W554R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 438247	NM_000275.3(OCA2):c.646+1825_807+679del	OCA2	Deletion (splice acceptor variant +1 more)	Albinism	GLikely pathogenic

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