LOC100130268[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	LOC130008261, LOC130008262 +142 more	Copy number loss	See cases	GLikely pathogenic
Select item 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +126 more	Copy number loss	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +164 more	Copy number loss	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 153539	GRCh38/hg38 12q21.1-21.2(chr12:75019031-75720674)x3	CAPS2, GLIPR1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 144519	GRCh38/hg38 12q21.1-21.2(chr12:75021678-75683757)x3	CAPS2, GLIPR1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 2499648	GRCh38/hg38 12q21.1-21.2(chr12:75027258-75716971)	CAPS2, GLIPR1 +12 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance

ClinVar