Full data view for gene BMPR1B

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

46 entries on 1 page. Showing entries 1 - 46.
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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     

Panel size     

Owner     
?/. - c.-17-52708A>G r.(=) p.(=) Unknown - VUS g.95972851A>G - BMPR1B(NM_001256793.1):c.1A>G (p.M1?), BMPR1B(NM_001256793.2):c.1A>G (p.(Met1?)) - BMPR1B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-17-52708A>G r.(=) p.(=) Unknown - VUS g.95972851A>G - BMPR1B(NM_001256793.1):c.1A>G (p.M1?), BMPR1B(NM_001256793.2):c.1A>G (p.(Met1?)) - BMPR1B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-17-52642A>G r.(=) p.(=) Unknown - likely benign g.95972917A>G g.95051766A>G BMPR1B(NM_001256793.1):c.67A>G (p.(Thr23Ala)) - BMPR1B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-8T>C r.(?) p.(=) Unknown - VUS g.96025568T>C - BMPR1B(NM_001203.2):c.-8T>C (p.?) - BMPR1B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.11G>A r.(?) p.(Arg4Gln) Unknown - VUS g.96025586G>A g.95104435G>A BMPR1B(NM_001203.2):c.11G>A (p.(Arg4Gln)) - BMPR1B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.71C>T r.(?) p.(Thr24Ile) Unknown - likely benign g.96025646C>T - BMPR1B(NM_001203.2):c.71C>T (p.(Thr24Ile)) - BMPR1B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.92G>A r.(?) p.(Arg31His) Parent #1 - likely benign g.96025667G>A g.95104516G>A - - BMPR1B_000019 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200035802 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/? 5 c.157T>C r.(?) p.(Cys53Arg) Paternal (inferred) - pathogenic g.96035884T>C g.95114733T>C - - BMPR1B_000001 - PubMed: Graul-Neumann 2013 - - Germline - - - - - DNA SEQ - - AMD2A - PubMed: Graul-Neumann 2013 - F yes Lebanon lebanese - - - - 1 Sandra Doelken
+/? 5 c.157T>C r.(?) p.(Cys53Arg) Maternal (inferred) - pathogenic g.96035884T>C g.95114733T>C - - BMPR1B_000001 - PubMed: Graul-Neumann 2013 - - Germline - - - - - DNA SEQ - - AMD2A - PubMed: Graul-Neumann 2013 - F yes Lebanon lebanese - - - - 1 Sandra Doelken
?/. - c.244C>T r.(?) p.(Arg82Trp) Unknown - VUS g.96035971C>T - BMPR1B(NM_001203.3):c.244C>T (p.(Arg82Trp)) - BMPR1B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.247-4A>G r.spl? p.? Unknown - likely benign g.96036832A>G g.95115681A>G BMPR1B(NM_001203.2):c.247-4A>G (p.?) - BMPR1B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.272G>T r.(?) p.(Arg91Ile) Unknown - VUS g.96036861G>T g.95115710G>T BMPR1B(NM_001203.2):c.272G>T (p.(Arg91Ile)) - BMPR1B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.418G>A r.(?) p.(Val140Ile) Unknown - VUS g.96045029G>A g.95123878G>A BMPR1B(NM_001203.2):c.418G>A (p.V140I) - BMPR1B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.430T>C r.(?) p.(Leu144=) Unknown - likely benign g.96045041T>C - BMPR1B(NM_001203.2):c.430T>C (p.L144=) - BMPR1B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.445C>T r.(?) p.(Arg149Trp) Unknown - likely benign g.96045056C>T - BMPR1B(NM_001203.3):c.445C>T (p.R149W) - BMPR1B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.447-1g>a r.spl p.? Maternal (confirmed) - pathogenic g.96046133g>a g.95124982g>a - - BMPR1B_000004 not in 200 control chromosomes Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Racacho 2015, Journal: Racacho 2015 - - Germline yes - - - - DNA SEQ - - BD - PubMed: Racacho 2015, Journal: Racacho 2015 2-generation family, affected male with unaffected carrier mother (reduced penetrance?) M no - African - - - - 2 Dennis E. Bulman
?/. - c.458A>G r.(?) p.(Gln153Arg) Unknown - VUS g.96046145A>G g.95124994A>G BMPR1B(NM_001203.3):c.458A>G (p.(Gln153Arg)) - BMPR1B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.458A>G r.(?) p.(Gln153Arg) Unknown - VUS g.96046145A>G - BMPR1B(NM_001203.3):c.458A>G (p.(Gln153Arg)) - BMPR1B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.464C>G r.(?) p.(Thr155Ser) Unknown - VUS g.96046151C>G - BMPR1B(NM_001203.2):c.464C>G (p.(Thr155Ser)) - BMPR1B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.527T>C r.(?) p.(Leu176Pro) Unknown - likely pathogenic g.96046214T>C - BMPR1B(NM_001203.3):c.527T>C (p.(Leu176Pro)) - BMPR1B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.640C>T r.(?) p.(Arg214Cys) Both (homozygous) - pathogenic g.96051067C>T g.95129916C>T - - BMPR1B_000006 - PubMed: Yildrim 2018 - - Germline yes 4/4 patients - - - DNA arraySNP, SEQ, SEQ-NG-I whole blood - BD, INFM FAM53-412 PubMed: Yildrim 2018 family, 7 affecteds (3M, 4F), parents first cousins M yes Algeria - >31y - Yes - 7 Yeşerin Yıldırım
+/. 9 c.640C>T r.(?) p.(Arg214Cys) Both (homozygous) - pathogenic g.96051067C>T g.95129916C>T - - BMPR1B_000006 - PubMed: Yildrim 2018 - - Germline yes - - - - DNA SSCA Whole blood - BD, INFM FAM53-401 PubMed: Yildrim 2018 - M yes Algeria - >43y - - - 1 Yeşerin Yıldırım
+/. 9 c.640C>T r.(?) p.(Arg214Cys) Both (homozygous) - pathogenic g.96051067C>T g.95129916C>T - - BMPR1B_000006 - PubMed: Yildrim 2018 - - Germline yes - - - - DNA SSCA Whole blood - BD, INFM FAM53-406 PubMed: Yildrim 2018 - M yes Algeria - >37y - - - 1 Yeşerin Yıldırım
+/. 9 c.640C>T r.(?) p.(Arg214Cys) Both (homozygous) - pathogenic g.96051067C>T g.95129916C>T - - BMPR1B_000006 - PubMed: Yildrim 2018 - - Germline yes - - - - DNA SSCA Whole blood - BD, INFM FAM53-408 PubMed: Yildrim 2018 - F yes Algeria - >36y - - - 1 Yeşerin Yıldırım
+/. 9 c.640C>T r.(?) p.(Arg214Cys) Unknown - pathogenic g.96051067C>T g.95129916C>T - - BMPR1B_000006 - PubMed: Yildrim 2018 - - Germline yes - - - - DNA SSCA Whole blood - BD FAM53-302 PubMed: Yildrim 2018 - F yes Algeria - >62y - - - 1 Yeşerin Yıldırım
+/. 9 c.640C>T r.(?) p.(Arg214Cys) Unknown - pathogenic g.96051067C>T g.95129916C>T - - BMPR1B_000006 - PubMed: Yildrim 2018 - - Germline yes - - - - DNA SSCA Whole blood - BD, INFM FAM53-409 PubMed: Yildrim 2018 brother M yes Algeria - >43y - - - 1 Yeşerin Yıldırım
+/. 9 c.640C>T r.(?) p.(Arg214Cys) Unknown - pathogenic g.96051067C>T g.95129916C>T - - BMPR1B_000006 - PubMed: Yildrim 2018 - - Germline yes - - - - DNA SSCA Whole blood - BD, INFM FAM53-413 PubMed: Yildrim 2018 - M yes Algeria - >30y - - - 1 Yeşerin Yıldırım
+/? 9 c.657G>A r.(?) p.(Trp219*) Paternal (inferred) - pathogenic g.96051084G>A g.95129933G>A - - BMPR1B_000002 - PubMed: Graul-Neumann 2013 - - Germline - - - - - DNA SEQ - - AMD2A - PubMed: Graul-Neumann 2013 family, 2 affecteds (IIa, IIb) M yes Pakistan pakistani - - - - 1 Sandra Doelken
+/? 9 c.657G>A r.(?) p.(Trp219*) Maternal (inferred) - pathogenic g.96051084G>A g.95129933G>A - - BMPR1B_000002 - PubMed: Graul-Neumann 2013 - - Germline - - - - - DNA SEQ - - AMD2A - PubMed: Graul-Neumann 2013 family, 2 affecteds (IIa, IIb) M yes Pakistan pakistani - - - - 1 Sandra Doelken
+/? 9 c.657G>A r.(?) p.(Trp219*) Paternal (inferred) - pathogenic g.96051084G>A g.95129933G>A - - BMPR1B_000002 - PubMed: Graul-Neumann 2013 - - Germline - - - - - DNA SEQ - - AMD2A - PubMed: Graul-Neumann 2013 family, 2 affecteds (IIa, IIb) M yes Pakistan pakistani - - - - 1 Sandra Doelken
+/? 9 c.657G>A r.(?) p.(Trp219*) Maternal (inferred) - pathogenic g.96051084G>A g.95129933G>A - - BMPR1B_000002 - PubMed: Graul-Neumann 2013 - - Germline - - - - - DNA SEQ - - AMD2A - PubMed: Graul-Neumann 2013 family, 2 affecteds (IIa, IIb) M yes Pakistan pakistani - - - - 1 Sandra Doelken
?/. - c.671G>A r.(?) p.(Arg224His) Unknown - VUS g.96051098G>A - BMPR1B(NM_001203.2):c.671G>A (p.(Arg224His)) - BMPR1B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.679A>G r.(?) p.(Lys227Glu) Unknown - likely benign g.96051106A>G - BMPR1B(NM_001203.2):c.679A>G (p.(Lys227Glu)) - BMPR1B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.726C>G r.(?) p.(Phe242Leu) Unknown - VUS g.96051153C>G - BMPR1B(NM_001203.3):c.726C>G (p.(Phe242Leu)) - BMPR1B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.745C>G r.(?) p.(Gln249Glu) Unknown - VUS g.96051172C>G - BMPR1B(NM_001203.3):c.745C>G (p.(Gln249Glu)) - BMPR1B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.793G>A r.(?) p.(Asp265Asn) Unknown - pathogenic g.96052380G>A g.95131229G>A BMPR1B(NM_001203.2):c.793G>A (p.D265N) - BMPR1B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.907A>C r.(?) p.(Lys303Gln) Unknown - VUS g.96052494A>C - BMPR1B(NM_001203.3):c.907A>C (p.(Lys303Gln)) - BMPR1B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.975A>C r.(?) p.(Lys325Asn) Unknown - pathogenic g.96052562A>C g.95131411A>C - - BMPR1B_000003 probably de novo (father not available); not in 200 control chromosomes PubMed: Racacho 2015, Journal: Racacho 2015 - - Unknown - - - - - DNA SEQ Whole Blood - BDB1 - PubMed: Racacho 2015, Journal: Racacho 2015 - F no (Canada) white - - - - 1 Dennis E. Bulman
?/. 10 c.1024A>G r.(1024a>g) p.(Lys342Glu) Unknown - VUS g.96052611A>G g.95131460A>G - - BMPR1B_000005 - - - - De novo - - - - - DNA SEQ-NG blood - OPLL - - - - - China Han - - - - 1 Xiaochen Qu
-?/. - c.1065T>A r.(?) p.(Val355=) Unknown - likely benign g.96052652T>A g.95131501T>A BMPR1B(NM_001203.2):c.1065T>A (p.V355=) - BMPR1B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1093G>C r.(?) p.(Asp365His) Unknown - VUS g.96069915G>C - BMPR1B(NM_001203.3):c.1093G>C (p.(Asp365His)) - BMPR1B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1112G>A r.(?) p.(Arg371Gln) Unknown - VUS g.96069934G>A - BMPR1B(NM_001203.2):c.1112G>A (p.R371Q, p.(Arg371Gln)) - BMPR1B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1112G>A r.(?) p.(Arg371Gln) Unknown - VUS g.96069934G>A - BMPR1B(NM_001203.2):c.1112G>A (p.R371Q, p.(Arg371Gln)) - BMPR1B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1174T>C r.(?) p.(Phe392Leu) Unknown - VUS g.96069996T>C - BMPR1B(NM_001203.2):c.1174T>C (p.(Phe392Leu)) - BMPR1B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1384-8T>C r.(=) p.(=) Unknown - likely benign g.96075691T>C g.95154540T>C BMPR1B(NM_001203.2):c.1384-8T>C (p.(=)) - BMPR1B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9G>C r.(=) p.(=) Unknown - VUS g.96075833G>C g.95154682G>C BMPR1B(NM_001203.2):c.*9G>C - BMPR1B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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