ClinVar for Gene (Select 126859721) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	ME1, MEI4 +299 more	Copy number loss	See cases	GPathogenic
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	EEF1A1-AS1, KCNQ5-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 149462	GRCh38/hg38 6q14.1(chr6:80425171-80657032)x3	BCKDHB, LOC123775377 +3 more	Copy number gain	See cases	GLikely benign
Select item 58828	GRCh38/hg38 6q14.1(chr6:80332710-81126767)x1	BCKDHB, LOC123775377 +3 more	Copy number loss	See cases	GUncertain significance

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