ClinVar for Gene (Select 126806751) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	LOC112935964, LOC112935965 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 152904	GRCh38/hg38 3q12.3(chr3:101626311-101744959)x3	CEP97, LOC126806751 +9 more	Copy number gain	See cases	GUncertain significance
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 145303	GRCh38/hg38 3q12.3(chr3:101596165-102374145)x3	CEP97, LOC101929411 +30 more	Copy number gain	See cases	GLikely benign
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic

ClinVar