ClinVar for Gene (Select 100507171) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1265913	NC_000002.12:g.74148140_74148149del	BOLA3, BOLA3-DT	Deletion (non-coding transcript variant)	not provided	GBenign
Select item 1190295	NC_000002.12:g.74148099C>T	BOLA3, BOLA3-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 676829	NM_212552.2(BOLA3):c.-164G>C	BOLA3, BOLA3-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic

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