"Invitae"[submitter] AND "LOC119407405"[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 2924203	NM_002049.4(GATA1):c.870+5C>T	GATA1, LOC119407405	Single nucleotide variant (intron variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GUncertain significance
Select item 705161	NM_002049.4(GATA1):c.870+8C>T	GATA1, LOC119407405	Single nucleotide variant (intron variant)	GATA1-related condition +2 more	GLikely benign
Select item 2154699	NM_002049.4(GATA1):c.871-20C>T	GATA1, LOC119407405	Single nucleotide variant (intron variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GBenign
Select item 2948822	NM_002049.4(GATA1):c.871-11C>T	GATA1, LOC119407405	Single nucleotide variant (intron variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GLikely benign
Select item 1336797	NM_002049.4(GATA1):c.871-7T>C	GATA1, LOC119407405	Single nucleotide variant (intron variant)	not provided +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