ClinVar for Gene (Select 406926) - 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: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	LOC130008616, LOC130008617 +712 more	Copy number gain	See cases	GPathogenic
Select item 154158	GRCh38/hg38 12q23.1(chr12:97452763-98257706)x3	LOC111429617, LOC126861605 +8 more	Copy number gain	See cases	GUncertain significance
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 148826	GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3	ACTR6, ANKS1B +91 more	Copy number gain	See cases	GLikely pathogenic

Display options Sort by Relevance Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File