All transcript variants in gene BMPR2

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

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-2G>A likely benign r.(?) p.(=) g.203242196G>A - BMPR2(NM_001204.6):c.-2G>A - BMPR2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.47G>A pathogenic r.(?) p.(Trp16*) g.203242244G>A - BMPR2(NM_001204.6):c.47G>A (p.W16*) - BMPR2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.530-14T>C benign r.(=) p.(=) g.203379597T>C - BMPR2(NM_001204.6):c.530-14T>C - BMPR2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.600A>C benign r.(?) p.(=) g.203379681A>C - BMPR2(NM_001204.6):c.600A>C (p.L200=) - BMPR2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.848_849insATA VUS r.(?) p.(Pro283_Asn284insTyr) g.203383771_203383772insATA - BMPR2(NM_001204.6):c.848_849insATA (p.P283_N284insY) - BMPR2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.853-23_853-22dup benign r.(=) p.(=) g.203384787_203384788dup - BMPR2(NM_001204.6):c.853-21_853-20insTT - BMPR2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.853-22dup benign r.(=) p.(=) g.203384788dup - BMPR2(NM_001204.6):c.853-21delCinsTC - BMPR2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.853-22_853-21insTC benign r.(=) p.(=) g.203384788_203384789insTC - BMPR2(NM_001204.6):c.853-22_853-21insTC - chr2_015617 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.853-21dup benign r.(=) p.(=) g.203384789dup - 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 benign r.(=) p.(=) g.203384789dup - 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 pathogenic r.(?) p.(Tyr314Serfs*11) g.203384898_203384902del - BMPR2(NM_001204.6):c.941_945delATCTT (p.Y314Sfs*11) - chr2_015618 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.1181T>A pathogenic r.(?) p.(Leu394*) g.203397360T>A - BMPR2(NM_001204.6):c.1181T>A (p.L394*) - chr2_015619 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1285G>A likely benign r.(?) p.(Val429Ile) g.203407042G>A - BMPR2(NM_001204.6):c.1285G>A (p.(Val429Ile)) - BMPR2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.1471C>T pathogenic r.(?) p.(Arg491Trp) g.203417496C>T - BMPR2(NM_001204.6):c.1471C>T (p.R491W) - BMPR2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.1471C>T ACMG: 5 r.(?) p.(Arg491Trp) g.203417496C>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) g.203420027T>C g.202555304T>C - - BMPR2_000002 - - - - De novo - - - 0 - Xiaochen Qu
-?/. - c.1735A>G likely benign r.(?) p.(Ile579Val) g.203420123A>G - BMPR2(NM_001204.6):c.1735A>G (p.I579V) - BMPR2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.1771C>T pathogenic r.(?) p.(Arg591*) g.203420159C>T - - - BMPR2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.1789C>T likely pathogenic r.(?) p.(Arg597*) g.203420177C>T - - - BMPR2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 12 c.2324G>A - r.(?) p.(Ser775Asn) g.203420712G>A g.202555989G>A - - BMPR2_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 12 c.2324G>A - r.(?) p.(Ser775Asn) g.203420712G>A g.202555989G>A - - BMPR2_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
-/. - c.2324G>A benign r.(?) p.(Ser775Asn) g.203420712G>A - BMPR2(NM_001204.6):c.2324G>A (p.S775N) - BMPR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.2431G>A VUS r.(?) p.(Gly811Ser) g.203420819G>A - BMPR2(NM_001204.6):c.2431G>A (p.(Gly811Ser)) - BMPR2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 12 c.2591C>T - r.(?) p.(Pro864Leu) g.203420979C>T g.202556256C>T - - BMPR2_000003 - PubMed: Neubauer 2018, Journal: Neubauer 2018 - rs377763312 Unknown - - - 0 - Cordula Haas
+/. - c.2695C>T pathogenic r.(?) p.(Arg899*) g.203421083C>T - BMPR2(NM_001204.6):c.2695C>T (p.R899*) - BMPR2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.2811G>A benign r.(?) p.(=) g.203421199G>A - BMPR2(NM_001204.6):c.2811G>A (p.R937=) - BMPR2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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