"Genetic Services Laboratory, University of Chicago"[submitter] AND "L - 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 179790	NM_005188.4(CBL):c.12C>T (p.Asn4=)	LOC130006895, CBL	Single nucleotide variant (synonymous variant)	RASopathy +3 more	GBenign/Likely benign
Select item 1145334	NM_005188.4(CBL):c.33C>T (p.Ala11=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy +2 more	GLikely benign
Select item 477693	NM_005188.4(CBL):c.107ACC[9] (p.His41_His42dup)	CBL, LOC130006895	Microsatellite (inframe_insertion)	CBL-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 40400	NM_005188.4(CBL):c.107ACC[8] (p.His42dup)	CBL, LOC130006895	Microsatellite (inframe_insertion)	RASopathy +7 more	GBenign/Likely benign
Select item 434591	NM_005188.4(CBL):c.107ACC[4] (p.His40_His42del)	CBL, LOC130006895	Microsatellite (inframe_deletion)	not specified +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