Unique variants in the BMP15 gene

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

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Reported     

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     
?/. 2 - c.-9C>G r.(?) p.(=) - VUS g.50653775C>G g.50910775C>G - - BMP15_000007 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.34C>T r.(?) p.(Leu12Phe) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.130C>G r.(?) p.(Leu44Val) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.162C>T r.(?) p.(Gly54=) - 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 - - - - - VKGL-NL_Rotterdam
-?/., ?/. 4 - c.202C>T r.(?) p.(Arg68Trp) - likely benign, VUS g.50653985C>T g.50910985C>T BMP15(NM_005448.2):c.202C>T (p.R68W, p.(Arg68Trp)) - BMP15_000001 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline, Somatic - 1/208 cases - - - Lucy Raymond, VKGL-NL_Leiden, Karine Poirier, VKGL-NL_Rotterdam
?/. 1 - c.413G>A r.(?) p.(Arg138His) - VUS g.50658841G>A g.50915841G>A - - BMP15_000013 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.443T>C r.(?) p.(Leu148Pro) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.520C>T r.(?) p.(Pro174Ser) - VUS g.50658948C>T g.50915948C>T - - BMP15_000014 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-/., ?/. 3 - c.538G>A r.(?) p.(Ala180Thr) - benign, VUS g.50658966G>A g.50915966G>A BMP15(NM_005448.2):c.538G>A (p.A180T) - BMP15_000012 found once, nonrecurrent change, VKGL data sharing initiative Nederland Papuc et al., submitted, PubMed: Tarpey 2009 - rs104894767 CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Groningen, Anaïs Begemann
?/. 1 - c.538G>T r.(?) p.(Ala180Ser) - VUS g.50658966G>T - BMP15(NM_005448.2):c.538G>T (p.A180S) - BMP15_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.539C>T r.(?) p.(Ala180Val) - VUS g.50658967C>T - BMP15(NM_005448.2):c.539C>T (p.A180V) - BMP15_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.581T>C r.(?) p.(Phe194Ser) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.607C>T r.(=) p.(=) - likely benign g.50659035C>T g.50916035C>T - - BMP15_000011 - - - - Germline - - - - - Jekaterina Shubina
+?/. 1 - c.610C>T r.(?) p.(Arg204Ter) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.617G>A r.(?) p.(Arg206His) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.786_788insTCT - - - VUS g.50659214_50659216insTCT - c.788_789insTCT - BMP15_000015 1 more item PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.791G>A r.(?) p.(Arg264Gln) - likely benign g.50659219G>A - BMP15(NM_005448.2):c.791G>A (p.R264Q) - BMP15_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.852C>T r.(=) p.(=) - VUS g.50659280C>T g.50916280C>T S284S - BMP15_000016 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
-?/. 1 - c.987C>T r.(?) p.(Arg329=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1002C>A r.(?) p.(Ser334=) - likely benign g.50659430C>A - BMP15(NM_005448.2):c.1002C>A (p.S334=) - BMP15_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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