LOC123477753[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC116158492 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	See cases	GPathogenic
Select item 57351	GRCh38/hg38 4q13.2(chr4:65873016-68743024)x3	CENPC, GNRHR +32 more	Copy number gain	See cases	GUncertain significance
Select item 57091	GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1	AMBN, AMTN +76 more	Copy number loss	See cases	GPathogenic
Select item 154298	GRCh38/hg38 4q13.2-13.3(chr4:67744481-70267689)x1	CSN1S1, CSN2 +43 more	Copy number loss	See cases	GUncertain significance
Select item 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	FDCSP, FGF5 +330 more	Deletion	See cases	GPathogenic

ClinVar