C1835897[trait identifier] AND "Institute of Medical Molecular Genetic - 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 1048137	NM_133497.4(KCNV2):c.1096del (p.Val366fs)	KCNV2 (V366fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 37247	NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg)	KCNV2 (G461R)	Single nucleotide variant (missense variant)	Nystagmus +5 more	GPathogenic/Likely pathogenic
Select item 1048135	NC_000009.11:g.2716981_2787016del	KCNV2	Deletion	Cone dystrophy with supernormal rod response	GLikely pathogenic

Format

Sort by

Choose Destination