LOC107105350[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 59018	GRCh38/hg38 12q13.13(chr12:53224024-54222450)x1	AAAS, AMHR2 +114 more	Copy number loss	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	AMHR2, ATF7 +219 more	Copy number gain	See cases	GPathogenic
Select item 152627	GRCh38/hg38 12q13.13(chr12:53841686-54136856)x3	FAM242C, FLJ12825 +40 more	Copy number gain	See cases	GLikely benign
Select item 2374769	NM_014212.4(HOXC11):c.569C>G (p.Ala190Gly)	HOTAIR, HOXC11 +1 more (A190G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2228996	NM_014212.4(HOXC11):c.574C>G (p.Arg192Gly)	HOTAIR, HOXC11 +1 more (R192G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar