"DBGen Ocular Genomics"[submitter] AND "RP2"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File

Search results

Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1213906	NM_006915.3(RP2):c.333_334del (p.Leu112fs)	RP2 (L112fs)	Deletion (frameshift variant)	Retinitis pigmentosa 2	GPathogenic
Select item 1213907	NM_006915.3(RP2):c.434T>C (p.Phe145Ser)	RP2 (F145S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 2 +1 more	GConflicting classifications of pathogenicity
Select item 1213909	NM_006915.3(RP2):c.465_468dup (p.Phe157fs)	RP2 (F157fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1172693	NM_006915.3(RP2):c.524A>C (p.His175Pro)	RP2 (H175P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 2	GLikely pathogenic
Select item 803988	NM_006915.3(RP2):c.884-14G>A	RP2	Single nucleotide variant (intron variant)	Retinitis pigmentosa 2 +3 more	GConflicting classifications of pathogenicity

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File