"PreventionGenetics, part of Exact Sciences"[submitter] AND "COL8A1"[g - 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 3057980	NM_020351.4(COL8A1):c.213C>A (p.Gly71=)	COL8A1	Single nucleotide variant (synonymous variant)	COL8A1-related condition	GLikely benign
Select item 3042627	NM_020351.4(COL8A1):c.287C>T (p.Ala96Val)	COL8A1 (A96V)	Single nucleotide variant (missense variant)	COL8A1-related condition	GLikely benign
Select item 3046113	NM_020351.4(COL8A1):c.750G>A (p.Ala250=)	COL8A1	Single nucleotide variant (synonymous variant)	COL8A1-related condition	GLikely benign
Select item 3055600	NM_020351.4(COL8A1):c.1228C>T (p.Pro410Ser)	COL8A1 (P410S)	Single nucleotide variant (missense variant)	COL8A1-related condition	GBenign
Select item 3042898	NM_020351.4(COL8A1):c.2044A>G (p.Asn682Asp)	COL8A1 (N682D)	Single nucleotide variant (missense variant)	COL8A1-related condition	GLikely benign

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File