BMPR1A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC126860963, LOC126860964 +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	ADIRF, ADIRF-AS1 +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	LOC132089876, LOC132090824 +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 155328	GRCh38/hg38 10q23.2(chr10:86693570-86764726)x3	BMPR1A, LDB3 +2 more	Copy number gain	See cases	GUncertain significance
Select item 661198	NC_000010.11:g.(?_86755016)_(87965482_?)del	LOC111982877, LOC111982878 +61 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 658440	NC_000010.11:g.(?_86755016)_(86756919_?)del	BMPR1A, LOC130004245	Deletion	Generalized juvenile polyposis/juvenile polyposis coli +1 more	GLikely pathogenic
Select item 639386	NC_000010.11:g.(?_86755016)_(86923729_?)del	BMPR1A, LOC130004245 +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 584032	NC_000010.11:g.(?_86755016)_(86757045_?)del	LOC130004245, BMPR1A	Deletion	Juvenile polyposis syndrome +1 more	GLikely pathogenic
Select item 1229698	NC_000010.11:g.86756209G>A	BMPR1A, LOC130004245	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1195222	NC_000010.11:g.86756311G>T	BMPR1A, LOC130004245	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1277039	NC_000010.11:g.86756333G>C	BMPR1A, LOC130004245	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1201703	NC_000010.11:g.86756413T>G	BMPR1A, LOC130004245	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1264362	NC_000010.11:g.86756585C>T	BMPR1A, LOC130004245	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 571700	NM_004329.3(BMPR1A):c.-547_-268+1del	BMPR1A, LOC130004245	Deletion (splice donor variant)	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 880281	NM_004329.3(BMPR1A):c.-534G>A	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 880282	NM_004329.3(BMPR1A):c.-500A>C	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 301345	NM_004329.3(BMPR1A):c.-473G>A	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 880283	NM_004329.3(BMPR1A):c.-468G>A	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 301346	NM_004329.3(BMPR1A):c.-447T>C	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 301347	NM_004329.3(BMPR1A):c.-349T>C	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +1 more	GBenign
Select item 877500	NM_004329.3(BMPR1A):c.-336C>T	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 877501	NM_004329.3(BMPR1A):c.-314C>T	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 513176	NM_004329.3(BMPR1A):c.-287A>T	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 182072	NM_004329.3(BMPR1A):c.-287A>G	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 377560	NM_004329.3(BMPR1A):c.-283G>A	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 512395	NM_004329.3(BMPR1A):c.-277T>C	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 507399	NM_004329.3(BMPR1A):c.-275G>C	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 380109	NM_004329.3(BMPR1A):c.-268+15C>G	BMPR1A, LOC130004245	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1240722	NM_004329.3(BMPR1A):c.-268+18G>C	BMPR1A, LOC130004245	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 381019	NM_004329.3(BMPR1A):c.-268+20G>A	BMPR1A, LOC130004245	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 679772	NM_004329.3(BMPR1A):c.-268+225C>T	BMPR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232086	NM_004329.3(BMPR1A):c.-268+404G>A	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1341620	NM_004329.3(BMPR1A):c.-268+1138T>A	BMPR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1702793	NM_004329.3(BMPR1A):c.-268+1463_-268+1465dup	BMPR1A	Duplication (intron variant)	not provided	GLikely benign
Select item 1235314	NM_004329.3(BMPR1A):c.-268+1465dup	BMPR1A	Duplication (intron variant)	not provided	GBenign
Select item 1226909	NM_004329.3(BMPR1A):c.-268+1464_-268+1465del	BMPR1A	Deletion (intron variant)	not provided	GBenign
Select item 1294599	NM_004329.3(BMPR1A):c.-268+1779T>G	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1526351	NM_004329.3(BMPR1A):c.-268+1817T>C	BMPR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267168	NM_004329.3(BMPR1A):c.-268+1917C>T	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236788	NM_004329.3(BMPR1A):c.-268+2280G>A	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278924	NM_004329.3(BMPR1A):c.-268+2320C>T	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238336	NM_004329.3(BMPR1A):c.-268+2898G>C	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239526	NM_004329.3(BMPR1A):c.-268+3038C>T	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232321	NM_004329.3(BMPR1A):c.-268+3153T>C	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220764	NM_004329.3(BMPR1A):c.-268+3733A>G	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221446	NM_004329.3(BMPR1A):c.-268+4087A>G	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326149	NM_004329.3(BMPR1A):c.-268+4609T>G	BMPR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262188	NM_004329.3(BMPR1A):c.-268+5295T>A	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1712211	NM_004329.3(BMPR1A):c.-268+5418G>C	BMPR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1341621	NM_004329.3(BMPR1A):c.-268+5565G>A	BMPR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236056	NM_004329.3(BMPR1A):c.-268+5637T>C	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243711	NM_004329.3(BMPR1A):c.-268+5677T>C	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235361	NM_004329.3(BMPR1A):c.-268+5732G>A	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229109	NM_004329.3(BMPR1A):c.-268+5919C>T	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1676881	NM_004329.3(BMPR1A):c.-268+5965G>A	BMPR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241740	NM_004329.3(BMPR1A):c.-268+6016C>T	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248703	NM_004329.3(BMPR1A):c.-268+6040T>C	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261292	NM_004329.3(BMPR1A):c.-268+6217C>T	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275602	NM_004329.3(BMPR1A):c.-268+6266C>T	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175625	NM_004329.3(BMPR1A):c.-268+6285G>A	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234303	NM_004329.3(BMPR1A):c.-268+6461C>T	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270461	NM_004329.3(BMPR1A):c.-268+6462G>A	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182100	NM_004329.3(BMPR1A):c.-268+6699_-268+6706del	BMPR1A	Deletion (intron variant)	not provided	GBenign
Select item 1334374	NM_004329.3(BMPR1A):c.-268+6822T>C	BMPR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226729	NM_004329.3(BMPR1A):c.-268+6890dup	BMPR1A	Duplication (intron variant)	not provided	GBenign
Select item 1180034	NM_004329.3(BMPR1A):c.-268+6889_-268+6890dup	BMPR1A	Duplication (intron variant)	not provided	GBenign
Select item 1225024	NM_004329.3(BMPR1A):c.-268+6957T>C	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250774	NM_004329.3(BMPR1A):c.-268+6963C>G	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290501	NM_004329.3(BMPR1A):c.-268+7028C>T	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256944	NM_004329.3(BMPR1A):c.-268+7063A>G	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275642	NM_004329.3(BMPR1A):c.-268+7124A>G	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235774	NM_004329.3(BMPR1A):c.-268+7134A>G	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1678736	NM_004329.3(BMPR1A):c.-268+7326_-268+7327dup	BMPR1A	Duplication (intron variant)	not provided	GBenign
Select item 1300519	NM_004329.3(BMPR1A):c.-268+7417A>G	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241602	NM_004329.3(BMPR1A):c.-268+7497G>A	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226116	NM_004329.3(BMPR1A):c.-268+7533T>G	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1700805	NM_004329.3(BMPR1A):c.-268+7545_-268+7547del	BMPR1A	Deletion (intron variant)	not provided	GLikely benign
Select item 1269437	NM_004329.3(BMPR1A):c.-268+7772G>C	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1328801	NM_004329.3(BMPR1A):c.-268+8154G>A	BMPR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271015	NM_004329.3(BMPR1A):c.-268+8293G>A	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248807	NM_004329.3(BMPR1A):c.-268+8469A>G	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229703	NM_004329.3(BMPR1A):c.-268+8543C>T	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1678713	NM_004329.3(BMPR1A):c.-268+8563_-268+8564insA	BMPR1A	Insertion (intron variant)	not provided	GBenign
Select item 1342033	NM_004329.3(BMPR1A):c.-268+8586dup	BMPR1A	Duplication (intron variant)	not provided	GBenign
Select item 1321665	NM_004329.3(BMPR1A):c.-268+8564C>A	BMPR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232902	NM_004329.3(BMPR1A):c.-268+8586del	BMPR1A	Deletion (intron variant)	not provided	GBenign
Select item 1241463	NM_004329.3(BMPR1A):c.-268+8629A>G	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221098	NM_004329.3(BMPR1A):c.-268+8812A>G	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274139	NM_004329.3(BMPR1A):c.-268+9192T>C	BMPR1A	Single nucleotide variant (intron variant)	not provided	GBenign

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