Related gene-specific medical variations for Gene (Select 4978) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Display options Sort by Relevance Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File

Links from Gene

Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685427	GRCh37/hg19 11q25(chr11:132220150-132550350)x1	OPCML	Copy number loss	not provided	GUncertain significance
Select item 1801417	NM_001012393.5(OPCML):c.62-182699_62-182663del	OPCML	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 685693	GRCh37/hg19 11q25(chr11:132250878-132346077)x1	OPCML	Copy number loss	not provided	GUncertain significance
Select item 563822	GRCh37/hg19 11q25(chr11:133085078-133245582)x1	OPCML	Copy number loss	not provided	GUncertain significance
Select item 394526	GRCh37/hg19 11q25(chr11:132840525-133244623)x3	OPCML	Copy number gain	See cases	GLikely benign

Display options Sort by Relevance Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File