ClinVar for Gene (Select 401134) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC116158492 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 152862	GRCh38/hg38 4q13.1-13.2(chr4:63868950-65648341)x1	EPHA5, LINC02232 +3 more	Copy number loss	See cases	GUncertain significance
Select item 147524	GRCh38/hg38 4q13.1(chr4:64132305-65099761)x1	LINC02232, LOC123477750 +2 more	Copy number loss	See cases	GUncertain significance
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic

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