"Baylor Genetics"[submitter] AND "ITGB3"[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: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 953061	NM_000212.3(ITGB3):c.505C>T (p.Arg169Ter)	ITGB3 (R169*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 890713	NM_000212.3(ITGB3):c.1459C>T (p.Arg487Cys)	ITGB3 (R487C)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 13564	NM_000212.3(ITGB3):c.2248C>T (p.Arg750Ter)	EFCAB13-DT, ITGB3 (R750*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 2408588	NM_000212.3(ITGB3):c.2279G>A (p.Arg760His)	EFCAB13-DT, ITGB3 (R760H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File