"PreventionGenetics, part of Exact Sciences"[submitter] AND "RDH12"[ge - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1108992	NM_152443.3(RDH12):c.69-5G>A	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13 +1 more	GLikely benign
Select item 3037009	NM_152443.3(RDH12):c.699C>A (p.Val233=)	GPHN, RDH12 +1 more	Single nucleotide variant (synonymous variant)	RDH12-related disorder	GLikely benign
Select item 2635583	NM_152443.3(RDH12):c.912_916del (p.Trp304fs)	GPHN, RDH12 +1 more (W304fs)	Deletion (frameshift variant)	RDH12-related disorder	GLikely pathogenic

Format

Sort by

Choose Destination

ClinVar