ClinVar for Gene (Select 100500903) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1701726	Single allele	FRS2, LOC130008282 +14 more	Duplication	not provided	GUncertain significance
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	BEST3, CAND1 +163 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	ATXN7L3B, BEST3 +141 more	Copy number loss	See cases	GLikely pathogenic

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