"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC126805 - 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: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99329	NM_000350.3(ABCA4):c.4909G>A (p.Ala1637Thr)	ABCA4, LOC126805793 (A1637T +1 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +3 more	GConflicting classifications of pathogenicity
Select item 255923	NM_000350.3(ABCA4):c.4774-17_4774-16del	ABCA4, LOC126805793	Deletion (intron variant)	Age related macular degeneration 2 +9 more	GBenign
Select item 255924	NM_000350.3(ABCA4):c.4774-27T>C	ABCA4, LOC126805793	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 99319	NM_000350.3(ABCA4):c.4773+48C>T	ABCA4, LOC126805793	Single nucleotide variant (intron variant)	Age related macular degeneration 2 +5 more	GBenign

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File