ClinVar for Gene (Select 283403) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3118968	NR_164127.1(LINC02874):n.560G>A	LINC02874	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +206 more	Copy number loss	See cases	GPathogenic
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic

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