ClinVar for Gene (Select 129932153) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500782	NC_000001.11:g.196706898_196873196del	CFH, CFHR1 +4 more	Deletion	Atypical hemolytic-uremic syndrome with I factor anomaly	GPathogenic
Select item 221377	GRCh38/hg38 1q31.3(chr1:196608263-197002575)x1	CFH, CFHR1 +12 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 155077	GRCh38/hg38 1q31.3(chr1:196301629-196775650)x1	CFH, CFHR3 +5 more	Copy number loss	See cases	GUncertain significance
Select item 146285	GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1	ASPM, ATP6V1G3 +173 more	Copy number loss	See cases	GPathogenic
Select item 146109	GRCh38/hg38 1q31.3(chr1:195514309-197896494)x1	ASPM, CFH +36 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic

ClinVar