Full data view for gene BMPR2

Information The variants shown are described using the NM_001204.6 transcript reference sequence.

51 entries on 1 page. Showing entries 1 - 51.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

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Owner     
-?/. - c.-669G>A r.(=) p.(=) Parent #1 - likely benign g.203241529G>A g.202376806G>A - - BMPR2_000028 10 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs115604088 Germline - 10/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 10 Mohammed Faruq
-?/. - c.-669G>A r.(?) p.(=) Unknown - likely benign g.203241529G>A - BMPR2(NM_001204.6):c.-669G>A - BMPR2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-301G>A r.(?) p.(=) Unknown - benign g.203241897G>A - BMPR2(NM_001204.7):c.-301G>A - BMPR2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2G>A r.(?) p.(=) Unknown - likely benign g.203242196G>A g.202377473G>A BMPR2(NM_001204.7):c.-2G>A - BMPR2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.47G>A r.(?) p.(Trp16Ter) Unknown - pathogenic g.203242244G>A g.202377521G>A BMPR2(NM_001204.7):c.47G>A (p.W16*) - BMPR2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.86A>G r.(?) p.(Asn29Ser) Unknown - likely benign g.203329541A>G - BMPR2(NM_001204.6):c.86A>G (p.N29S) - BMPR2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.200A>G r.(?) p.(Tyr67Cys) Unknown - pathogenic g.203329655A>G - BMPR2(NM_001204.7):c.200A>G (p.Y67C) - BMPR2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.243dup r.(?) p.(Gln82Thrfs*16) Unknown - pathogenic g.203329698dup - BMPR2(NM_001204.7):c.243dupA (p.Q82Tfs*16) - BMPR2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.377A>G r.(?) p.(Asn126Ser) Unknown ACMG likely pathogenic (dominant) g.203332371A>G - - - BMPR2_000034 ACMG PS4_MOD, PM1, PM2_SUP, PP3 PMID: 20534176, 29843651, 19555857, 21737554 ClinVar-RCV000488669.2 - Germline ? - - - - DNA SEQ-NG-I - - PPH1 176746 - - F ? Germany - - - - - 1 Andreas Laner
+/. - c.399del r.(?) p.(Pro134Leufs*18) Unknown - pathogenic g.203332393del - BMPR2(NM_001204.6):c.399delT (p.P134Lfs*18), BMPR2(NM_001204.7):c.399delT (p.P134Lfs*18) - BMPR2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.399del r.(?) p.(Pro134Leufs*18) Unknown - pathogenic g.203332393del - BMPR2(NM_001204.6):c.399delT (p.P134Lfs*18), BMPR2(NM_001204.7):c.399delT (p.P134Lfs*18) - BMPR2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.419-38del r.(=) p.(=) Unknown - benign g.203378404del g.202513681del BMPR2(NM_001204.6):c.419-38delT - BMPR2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.530-14T>C r.(=) p.(=) Unknown - benign g.203379597T>C g.202514874T>C BMPR2(NM_001204.7):c.530-14T>C - BMPR2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.600A>C r.(?) p.(Leu200=) Unknown - benign g.203379681A>C g.202514958A>C BMPR2(NM_001204.7):c.600A>C (p.L200=) - BMPR2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.621+8T>C r.(=) p.(=) Unknown - likely benign g.203379710T>C - BMPR2(NM_001204.6):c.621+8T>C - BMPR2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.848_849insATA r.(?) p.(Pro283_Asn284insTyr) Unknown - VUS g.203383771_203383772insATA g.202519048_202519049insATA BMPR2(NM_001204.7):c.848_849insATA (p.P283_N284insY) - BMPR2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.852+5G>A r.spl? p.? Unknown - VUS g.203383780G>A - BMPR2(NM_001204.7):c.852+5G>A - BMPR2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.853-23_853-22dup r.(=) p.(=) Unknown - benign g.203384787_203384788dup g.202520064_202520065dup BMPR2(NM_001204.7):c.853-23_853-22dupTT - BMPR2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.853-22dup r.(=) p.(=) Unknown - benign g.203384788dup g.202520065dup BMPR2(NM_001204.7):c.853-21delCinsTC - BMPR2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.853-22_853-21insTC r.(=) p.(=) Unknown - benign g.203384788_203384789insTC g.202520065_202520066insTC BMPR2(NM_001204.7):c.853-22_853-21insTC - BMPR2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.853-21dup r.(=) p.(=) Unknown - benign g.203384789dup g.202520066dup BMPR2(NM_001204.7):c.853-21dupC - BMPR2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.853-21dup r.(=) p.(=) Unknown - benign g.203384789dup g.202520066dup BMPR2(NM_001204.7):c.853-21dupC - BMPR2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.941_945del r.(?) p.(Tyr314SerfsTer11) Unknown - pathogenic g.203384898_203384902del g.202520175_202520179del BMPR2(NM_001204.7):c.941_945delATCTT (p.Y314Sfs*11) - BMPR2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.952G>T r.(?) p.(Glu318*) Unknown - pathogenic g.203384909G>T - BMPR2(NM_001204.7):c.952G>T (p.E318*) - BMPR2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.968-2444G>A r.(=) p.(=) Unknown - likely benign g.203393073G>A - BMPR2(NM_001204.7):c.968-2444G>A - BMPR2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.994C>T r.(?) p.(Arg332Ter) Unknown - pathogenic g.203395543C>T - BMPR2(NM_001204.7):c.994C>T (p.R332*) - BMPR2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1042G>A r.(?) p.(Val348Ile) Maternal (confirmed) - VUS g.203395591G>A g.202530868G>A - - BMPR2_000031 - PubMed: Wang 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? AVM511 PubMed: Wang 2018 - - - China - - - - - 1 Johan den Dunnen
+/. - c.1181T>A r.(?) p.(Leu394Ter) Unknown - pathogenic g.203397360T>A g.202532637T>A BMPR2(NM_001204.7):c.1181T>A (p.L394*) - BMPR2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1285G>A r.(?) p.(Val429Ile) Unknown - likely benign g.203407042G>A g.202542319G>A BMPR2(NM_001204.6):c.1285G>A (p.(Val429Ile)) - BMPR2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1295A>G r.(?) p.(Tyr432Cys) Unknown - VUS g.203407052A>G - BMPR2(NM_001204.6):c.1295A>G (p.Y432C) - BMPR2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1471C>T r.(?) p.(Arg491Trp) Unknown - pathogenic g.203417496C>T g.202552773C>T BMPR2(NM_001204.7):c.1471C>T (p.R491W) - BMPR2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1471C>T r.(?) p.(Arg491Trp) Unknown ACMG pathogenic g.203417496C>T g.202552773C>T - - BMPR2_000012 ACMG grading: PP3, PM5, PS3, PM2, PP1;; reported in Deng 2000. Am J Hum Genet 67: 737; Rudarakanchana 2002. Hum Mol Genet 11: 1517; Ghigna 2016. Eur Respir 48: 1668; Zhicheng 2004. Biochem Biophys Res Commun 4: 1033 - - rs137852746 Germline - - - - - DNA SEQ-NG-S - - - - - - M - - - - - - - 1 Andreas Laner
?/. - c.1481C>T r.(?) p.(Ala494Val) Paternal (confirmed) - VUS g.203417506C>T g.202552783C>T - - BMPR2_000032 - PubMed: Wang 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? AVM199 PubMed: Wang 2018 - - - China - - - - - 1 Johan den Dunnen
?/. - c.1481C>T r.(?) p.(Ala494Val) Paternal (confirmed) - VUS g.203417506C>T g.202552783C>T - - BMPR2_000032 - PubMed: Wang 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? AVM401 PubMed: Wang 2018 - - - China - - - - - 1 Johan den Dunnen
?/. 12 c.1639T>C r.(1639u>c) p.(Ser547Pro) Unknown - VUS g.203420027T>C g.202555304T>C - - BMPR2_000002 - - - - De novo - - - - - DNA SEQ-NG blood - OPLL - - - - - China Han - - - - 1 Xiaochen Qu
-?/. - c.1716G>A r.(?) p.(Met572Ile) Unknown - likely benign g.203420104G>A g.202555381G>A BMPR2(NM_001204.6):c.1716G>A (p.(Met572Ile)) - BMPR2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1735A>G r.(?) p.(Ile579Val) Unknown - likely benign g.203420123A>G g.202555400A>G BMPR2(NM_001204.7):c.1735A>G (p.I579V) - BMPR2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1771C>T r.(?) p.(Arg591Ter) Unknown - pathogenic g.203420159C>T g.202555436C>T - - BMPR2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1789C>T r.(?) p.(Arg597Ter) Unknown - likely pathogenic g.203420177C>T g.202555454C>T - - BMPR2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 12 c.2324G>A r.(?) p.(Ser775Asn) Unknown - VUS g.203420712G>A g.202555989G>A - - BMPR2_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 12 c.2324G>A r.(?) p.(Ser775Asn) Unknown - VUS g.203420712G>A g.202555989G>A - - BMPR2_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.2324G>A r.(?) p.(Ser775Asn) Unknown - benign g.203420712G>A g.202555989G>A BMPR2(NM_001204.6):c.2324G>A (p.(Ser775Asn)), BMPR2(NM_001204.7):c.2324G>A (p.S775N) - BMPR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2324G>A r.(?) p.(Ser775Asn) Unknown - likely benign g.203420712G>A g.202555989G>A BMPR2(NM_001204.6):c.2324G>A (p.(Ser775Asn)), BMPR2(NM_001204.7):c.2324G>A (p.S775N) - BMPR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2324G>A r.(?) p.(Ser775Asn) Parent #1 - likely benign g.203420712G>A g.202555989G>A - - BMPR2_000001 36 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2228545 Germline - 36/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 36 Mohammed Faruq
+?/. - c.2325C>A r.(?) p.(Ser775Arg) Unknown ACMG benign g.203420713C>A - - - BMPR2_000035 - PubMed: Xi 2016 - - Germline/De novo (untested) - - - - - DNA MLPA, PCR Peripheral blood - PPH2 Pat285 PubMed: Xi 2016 - ? ? China Chinese Han - - - - 1 Litika Vermani
?/. - c.2431G>A r.(?) p.(Gly811Ser) Unknown - VUS g.203420819G>A g.202556096G>A BMPR2(NM_001204.6):c.2431G>A (p.(Gly811Ser)) - BMPR2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 12 c.2591C>T r.(?) p.(Pro864Leu) Unknown - VUS g.203420979C>T g.202556256C>T - - BMPR2_000003 - PubMed: Neubauer 2018, Journal: Neubauer 2018 - rs377763312 Unknown - - - - - DNA SEQ-NG-I - - SUD SUDS024 PubMed: Neubauer 2018, Journal: Neubauer 2018 - M - Switzerland Europe 24y - - - 1 Cordula Haas
?/. - c.2678G>A r.(?) p.(Arg893Gln) Paternal (confirmed) - VUS g.203421066G>A g.202556343G>A - - BMPR2_000033 - PubMed: Wang 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? AVM235 PubMed: Wang 2018 - - - China - - - - - 1 Johan den Dunnen
+/. - c.2695C>T r.(?) p.(Arg899Ter) Unknown - pathogenic g.203421083C>T g.202556360C>T BMPR2(NM_001204.7):c.2695C>T (p.R899*) - BMPR2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2748T>C r.(?) p.(Leu916=) Unknown - likely benign g.203421136T>C - BMPR2(NM_001204.6):c.2748T>C (p.L916=) - BMPR2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2811G>A r.(?) p.(Arg937=) Unknown - benign g.203421199G>A g.202556476G>A BMPR2(NM_001204.7):c.2811G>A (p.R937=) - BMPR2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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