LOC130004260[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59703	GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3	ATAD1, ACTA2 +151 more	Copy number gain	See cases	GPathogenic
Select item 661198	NC_000010.11:g.(?_86755016)_(87965482_?)del	ADIRF, ADIRF-AS1 +61 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 646972	NC_000010.11:g.(?_86838866)_(87965482_?)del	ADIRF, ADIRF-AS1 +60 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 660158	NC_000010.11:g.(?_86875868)_(87894129_?)del	ADIRF, ADIRF-AS1 +57 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3294914	NM_004897.5(MINPP1):c.16G>C (p.Gly6Arg)	LOC130004260, MINPP1 (G6R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2291295	NM_004897.5(MINPP1):c.35C>T (p.Ser12Phe)	LOC130004260, MINPP1 (S12F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar