LOC100507250[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	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	IL22, BEST3 +163 more	Copy number loss	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
Select item 1320404	NC_000012.12:g.68686678C>T	LOC100507250, NUP107	Single nucleotide variant	not provided	GLikely benign
Select item 1198391	NC_000012.12:g.68686813G>C	LOC100507250, NUP107	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1222965	NC_000012.12:g.68686836A>G	LOC100507250, NUP107	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign

ClinVar