"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "BMS1"[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 3025232	NM_014753.4(BMS1):c.771G>T (p.Leu257=)	BMS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025776	NM_014753.4(BMS1):c.867A>G (p.Ala289=)	BMS1	Single nucleotide variant (synonymous variant)	BMS1-related condition +1 more	GLikely benign
Select item 3025806	NM_014753.4(BMS1):c.1374C>T (p.Asn458=)	BMS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 624469	GRCh37/hg19 10p11.21-q11.22(chr10:37149872-46169876)x3	ALOX5, ANKRD30A +24 more	Copy number gain	not provided	GLikely pathogenic

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File