All transcript variants in gene BMPR2

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

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.-669G>A r.(=) p.(=) - likely benign g.203241529G>A g.202376806G>A - - BMPR2_000028 10 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs115604088 Germline - 10/2795 individuals - 0 - Mohammed Faruq
-?/. - c.-2G>A r.(?) p.(=) - likely benign g.203242196G>A g.202377473G>A BMPR2(NM_001204.6):c.-2G>A - BMPR2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.47G>A r.(?) p.(Trp16Ter) - pathogenic g.203242244G>A g.202377521G>A BMPR2(NM_001204.6):c.47G>A (p.W16*) - BMPR2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.419-38del r.(=) p.(=) - benign g.203378404del g.202513681del BMPR2(NM_001204.6):c.419-38delT - BMPR2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.530-14T>C r.(=) p.(=) - benign g.203379597T>C g.202514874T>C BMPR2(NM_001204.6):c.530-14T>C - BMPR2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.600A>C r.(?) p.(Leu200=) - benign g.203379681A>C g.202514958A>C BMPR2(NM_001204.6):c.600A>C (p.L200=) - BMPR2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.848_849insATA r.(?) p.(Pro283_Asn284insTyr) - VUS g.203383771_203383772insATA g.202519048_202519049insATA BMPR2(NM_001204.6):c.848_849insATA (p.P283_N284insY) - BMPR2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.853-23_853-22dup r.(=) p.(=) - benign g.203384787_203384788dup g.202520064_202520065dup BMPR2(NM_001204.6):c.853-21_853-20insTT - BMPR2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.853-22dup r.(=) p.(=) - benign g.203384788dup g.202520065dup BMPR2(NM_001204.6):c.853-21delCinsTC - BMPR2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.853-22_853-21insTC r.(=) p.(=) - benign g.203384788_203384789insTC g.202520065_202520066insTC BMPR2(NM_001204.6):c.853-22_853-21insTC - BMPR2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.853-21dup r.(=) p.(=) - benign g.203384789dup g.202520066dup BMPR2(NM_001204.6):c.853-21_853-20insC, BMPR2(NM_001204.6):c.853-21dupC - BMPR2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.853-21dup r.(=) p.(=) - benign g.203384789dup g.202520066dup BMPR2(NM_001204.6):c.853-21_853-20insC, BMPR2(NM_001204.6):c.853-21dupC - BMPR2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.941_945del r.(?) p.(Tyr314SerfsTer11) - pathogenic g.203384898_203384902del g.202520175_202520179del BMPR2(NM_001204.6):c.941_945delATCTT (p.Y314Sfs*11) - BMPR2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.994C>T r.(?) p.(Arg332Ter) - - g.203395543C>T - BMPR2(NM_001204.6):c.994C>T (p.R332*) - BMPR2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.1181T>A r.(?) p.(Leu394Ter) - pathogenic g.203397360T>A g.202532637T>A BMPR2(NM_001204.6):c.1181T>A (p.L394*) - BMPR2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1285G>A r.(?) p.(Val429Ile) - 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 - - - - - VKGL-NL_Leiden
+/. - c.1471C>T r.(?) p.(Arg491Trp) - pathogenic g.203417496C>T g.202552773C>T BMPR2(NM_001204.6):c.1471C>T (p.R491W) - BMPR2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.1471C>T r.(?) p.(Arg491Trp) 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 - - - 0 - Andreas Laner
?/. 12 c.1639T>C r.(1639u>c) p.(Ser547Pro) - VUS g.203420027T>C g.202555304T>C - - BMPR2_000002 - - - - De novo - - - 0 - Xiaochen Qu
-?/. - c.1716G>A r.(?) p.(Met572Ile) - 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 - - - - - VKGL-NL_Leiden
-?/. - c.1735A>G r.(?) p.(Ile579Val) - likely benign g.203420123A>G g.202555400A>G BMPR2(NM_001204.6):c.1735A>G (p.I579V) - BMPR2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.1771C>T r.(?) p.(Arg591Ter) - pathogenic g.203420159C>T g.202555436C>T - - BMPR2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1789C>T r.(?) p.(Arg597Ter) - likely pathogenic g.203420177C>T g.202555454C>T - - BMPR2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 12 c.2324G>A r.(?) p.(Ser775Asn) - VUS g.203420712G>A g.202555989G>A - - BMPR2_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 12 c.2324G>A r.(?) p.(Ser775Asn) - VUS g.203420712G>A g.202555989G>A - - BMPR2_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
-/. - c.2324G>A r.(?) p.(Ser775Asn) - benign g.203420712G>A g.202555989G>A BMPR2(NM_001204.6):c.2324G>A (p.S775N) - BMPR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.2324G>A r.(?) p.(Ser775Asn) - likely benign g.203420712G>A g.202555989G>A - - BMPR2_000001 36 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs2228545 Germline - 36/2795 individuals - 0 - Mohammed Faruq
?/. - c.2431G>A r.(?) p.(Gly811Ser) - 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 - - - 0 - VKGL-NL_Leiden
?/. 12 c.2591C>T r.(?) p.(Pro864Leu) - VUS g.203420979C>T g.202556256C>T - - BMPR2_000003 - PubMed: Neubauer 2018, Journal: Neubauer 2018 - rs377763312 Unknown - - - 0 - Cordula Haas
+/. - c.2695C>T r.(?) p.(Arg899Ter) - pathogenic g.203421083C>T g.202556360C>T BMPR2(NM_001204.6):c.2695C>T (p.R899*) - BMPR2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.2811G>A r.(?) p.(Arg937=) - benign g.203421199G>A g.202556476G>A BMPR2(NM_001204.6):c.2811G>A (p.R937=) - BMPR2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
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