C2674219[trait identifier] AND "3billion"[submitter] - 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 1333304	NM_001355436.2(SPTB):c.5446A>T (p.Lys1816Ter)	SPTB (K1816*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 1705677	NM_001355436.2(SPTB):c.3082C>T (p.Gln1028Ter)	SPTB (Q1028*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 1705421	NM_001355436.2(SPTB):c.1908del (p.Lys637fs)	SPTB (K637fs)	Deletion (frameshift variant)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 2444088	NM_001355436.2(SPTB):c.1465G>T (p.Glu489Ter)	SPTB (E489*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 1705517	NM_001355436.2(SPTB):c.474+1G>A	SPTB	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File