LOC130004246[gene] - ClinVar

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Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 153276	GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1	ADIRF, ADIRF-AS1 +174 more	Copy number loss	See cases	GPathogenic
Select item 58748	GRCh38/hg38 10q22.3-23.2(chr10:79719429-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 147367	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87068261)x1	ADIRF, ADIRF-AS1 +166 more	Copy number loss	See cases	GPathogenic
Select item 58751	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 155111	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87180672)x1	FAM25A, GHITM +168 more	Copy number loss	See cases	GPathogenic
Select item 59702	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87182117)x3	SHLD2, SNCG +168 more	Copy number gain	See cases	GPathogenic
Select item 33096	GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1	ADIRF, ADIRF-AS1 +163 more	Copy number loss	See cases	GPathogenic
Select item 58757	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87109827)x1	LOC130004227, LOC130004228 +168 more	Copy number loss	See cases	GPathogenic
Select item 58755	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1	ADIRF, ADIRF-AS1 +175 more	Copy number loss	See cases	GPathogenic
Select item 58754	GRCh38/hg38 10q22.3-23.2(chr10:79898516-86964367)x1	ANXA11, BMPR1A +150 more	Copy number loss	See cases	GPathogenic
Select item 146022	GRCh38/hg38 10q22.3-23.2(chr10:79925613-86951708)x1	LINC00857, LINC00858 +147 more	Copy number loss	See cases	GPathogenic
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 639386	NC_000010.11:g.(?_86755016)_(86923729_?)del	LOC130004247, BMPR1A +2 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 584287	NC_000010.10:g.(?_88514773)_(88683486_?)dup	BMPR1A, LOC130004245 +2 more	Duplication	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 58774	GRCh38/hg38 10q23.2(chr10:86787518-86892381)x1	BMPR1A, LOC130004246 +1 more	Copy number loss	See cases	GPathogenic
Select item 148441	GRCh38/hg38 10q23.2(chr10:86823227-86930005)x3	BMPR1A, LOC130004246 +1 more	Copy number gain	See cases	GUncertain significance
Select item 417562	NC_000010.11:g.(?_86838865)_(86900126_?)del	BMPR1A, LOC130004246 +1 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 583629	NC_000010.10:g.(?_88598623)_(88683486_?)dup	BMPR1A, LOC130004246 +1 more	Duplication	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 460467	NC_000010.10:g.(?_88598623)_(88683482_?)dup	BMPR1A, LOC130004246 +1 more	Duplication	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance

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Items: 22