"Genomics England Pilot Project, Genomics England"[submitter] AND "GPR - 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 1184535	NM_000273.3(GPR143):c.767+1G>A	GPR143	Single nucleotide variant (splice donor variant)	Ocular albinism, type I	GLikely pathogenic
Select item 1184536	NM_000273.3(GPR143):c.346T>G (p.Cys116Gly)	GPR143 (C116G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic