Full data view for gene BMP15

Information The variants shown are described using the NM_005448.2 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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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.-9C>G r.(?) p.(=) Maternal (inferred) - VUS g.50653775C>G g.50910775C>G - - BMP15_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-9C>G r.(?) p.(=) Maternal (inferred) - VUS g.50653775C>G g.50910775C>G - - BMP15_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.34C>T r.(?) p.(Leu12Phe) Unknown - likely benign g.50653817C>T g.50910817C>T BMP15(NM_005448.2):c.34C>T (p.L12F) - BMP15_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.130C>G r.(?) p.(Leu44Val) Unknown - VUS g.50653913C>G g.50910913C>G BMP15(NM_005448.2):c.130C>G (p.(Leu44Val)) - BMP15_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162C>T r.(?) p.(Gly54=) Unknown - likely benign g.50653945C>T g.50910945C>T BMP15(NM_005448.2):c.162C>T (p.G54=) - BMP15_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.181C>T r.(?) p.(Arg61Trp) Unknown - likely benign g.50653964C>T - BMP15(NM_005448.2):c.181C>T (p.(Arg61Trp)) - BMP15_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.202C>T r.(?) p.(Arg68Trp) Maternal (confirmed) - VUS g.50653985C>T g.50910985C>T - - BMP15_000001 - - - - Somatic - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - ID 28585349-FamPat1 PubMed: Poirier 2017, Journal: Poirier 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - - - - - 1 Karine Poirier
?/. - c.202C>T r.(?) p.(Arg68Trp) Unknown - VUS g.50653985C>T g.50910985C>T BMP15(NM_005448.2):c.202C>T (p.R68W, p.(Arg68Trp)) - BMP15_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.202C>T r.(?) p.(Arg68Trp) Parent #1 - VUS g.50653985C>T g.50910985C>T - - BMP15_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.202C>T r.(?) p.(Arg68Trp) Unknown - likely benign g.50653985C>T g.50910985C>T BMP15(NM_005448.2):c.202C>T (p.R68W, p.(Arg68Trp)) - BMP15_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.223C>T r.(?) p.(Arg75Trp) Unknown - VUS g.50654006C>T - BMP15(NM_005448.2):c.223C>T (p.R75W) - BMP15_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.413G>A r.(?) p.(Arg138His) Parent #1 - VUS g.50658841G>A g.50915841G>A - - BMP15_000013 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.443T>C r.(?) p.(Leu148Pro) Unknown - likely benign g.50658871T>C g.50915871T>C BMP15(NM_005448.2):c.443T>C (p.(Leu148Pro)) - BMP15_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.520C>T r.(?) p.(Pro174Ser) Parent #1 - VUS g.50658948C>T g.50915948C>T - - BMP15_000014 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.538G>A r.(?) p.(Ala180Thr) Parent #1 - VUS g.50658966G>A g.50915966G>A - - BMP15_000012 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-/. - c.538G>A r.(?) p.(Ala180Thr) Maternal (confirmed) - benign g.50658966G>A g.50915966G>A - - BMP15_000012 - PubMed: Papuc 2019 - rs104894767 Germline - - - - - DNA SEQ-NG-I blood WES EE 47651 - - M no Switzerland - - - - - 1 Anaïs Begemann
-/. - c.538G>A r.(?) p.(Ala180Thr) Unknown - benign g.50658966G>A g.50915966G>A BMP15(NM_005448.2):c.538G>A (p.A180T) - BMP15_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.538G>T r.(?) p.(Ala180Ser) Unknown - VUS g.50658966G>T - BMP15(NM_005448.2):c.538G>T (p.A180S) - BMP15_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.539C>T r.(?) p.(Ala180Val) Unknown - VUS g.50658967C>T - BMP15(NM_005448.2):c.539C>T (p.A180V) - BMP15_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.581T>C r.(?) p.(Phe194Ser) Unknown - likely benign g.50659009T>C g.50916009T>C BMP15(NM_005448.2):c.581T>C (p.F194S) - BMP15_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.581T>C r.(?) p.(Phe194Ser) Unknown - likely benign g.50659009T>C g.50916009T>C BMP15(NM_005448.2):c.581T>C (p.F194S) - BMP15_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.607C>T r.(=) p.(=) Unknown - likely benign g.50659035C>T g.50916035C>T - - BMP15_000011 - - - - Germline - - - - - DNA SEQ - - ? - - - F - Russian Federation - - - - - 1 Jekaterina Shubina
+?/. - c.610C>T r.(?) p.(Arg204Ter) Unknown - likely pathogenic g.50659038C>T g.50916038C>T BMP15(NM_005448.2):c.610C>T (p.R204*) - BMP15_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.617G>A r.(?) p.(Arg206His) Unknown - likely benign g.50659045G>A g.50916045G>A BMP15(NM_005448.2):c.617G>A (p.R206H) - BMP15_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.786_788insTCT - - Parent #1 - VUS g.50659214_50659216insTCT - c.788_789insTCT - BMP15_000015 found once, nonrecurrent change Variant Error [ESYNTAX]: This genomic variant has an error (insertion length must be 1). Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.791G>A r.(?) p.(Arg264Gln) Unknown - likely benign g.50659219G>A - BMP15(NM_005448.2):c.791G>A (p.R264Q) - BMP15_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.852C>T r.(=) p.(=) Parent #1 - VUS g.50659280C>T g.50916280C>T S284S - BMP15_000016 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
-?/. - c.987C>T r.(?) p.(Arg329=) Unknown - likely benign g.50659415C>T g.50916415C>T BMP15(NM_005448.2):c.987C>T (p.R329=) - BMP15_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1002C>A r.(?) p.(Ser334=) Unknown - likely benign g.50659430C>A - BMP15(NM_005448.2):c.1002C>A (p.S334=) - BMP15_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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