All variants in the PDGFRB gene

Information The variants shown are described using the NM_002609.3 transcript reference sequence.

151 entries on 2 pages. Showing entries 1 - 100.
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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.-302C>T r.(?) p.(=) - benign g.149535255G>A g.150155692G>A - - PDGFRB_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-6-15T>C r.(=) p.(=) - likely benign g.149516631A>G - PDGFRB(NM_002609.3):c.-6-15T>C - PDGFRB_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.-6-5T>C r.spl? p.? - likely benign g.149516621A>G g.150137058A>G PDGFRB(NM_002609.3):c.-6-5T>C (p.(=)) - PDGFRB_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.-469_1579{0} NM_152263.2:r.-115_775::r.1580_*1924 p.? - pathogenic g.[NC_000001.10:154138067_qter]delins149507614_qter - TPM3-PDGFRB fusion t(1;5)(q21.2;q33.1) PDGFRB_000052 - PubMed: Li 2011 - - DUPLICATE record - - - 0 - Johan den Dunnen
+/. - c.1580_*1924{0} r.-469_1579::NM_153649.3:r.665del_*2326 p.? - pathogenic g.149507614_qterdelins[NC_000001.10:154138067_pter] - - t(1;5)(q21.2;q33.1) PDGFRB_000051 - PubMed: Li 2011 - - Somatic - - - 0 - Johan den Dunnen
?/. - c.11C>A r.(?) p.(Pro4Gln) - VUS g.149516600G>T - PDGFRB(NM_002609.3):c.11C>A (p.P4Q) - PDGFRB_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.17C>T r.(?) p.(Ala6Val) - likely benign g.149516594G>A g.150137031G>A PDGFRB(NM_002609.3):c.17C>T (p.A6V) - PDGFRB_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.85A>T r.(?) p.(Ile29Phe) - likely benign g.149515397T>A g.150135834T>A PDGFRB(NM_002609.3):c.85A>T (p.(Ile29Phe), p.I29F) - PDGFRB_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.85A>T r.(?) p.(Ile29Phe) - likely benign g.149515397T>A g.150135834T>A PDGFRB(NM_002609.3):c.85A>T (p.(Ile29Phe), p.I29F) - PDGFRB_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.102C>T r.(?) p.(Val34=) - likely benign g.149515380G>A g.150135817G>A PDGFRB(NM_002609.3):c.102C>T (p.V34=) - PDGFRB_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.212A>G r.(?) p.(Gln71Arg) - likely benign g.149515270T>C g.150135707T>C PDGFRB(NM_002609.3):c.212A>G (p.Q71R) - PDGFRB_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.255C>T r.(?) p.(Leu85=) - likely benign g.149515227G>A g.150135664G>A PDGFRB(NM_002609.3):c.255C>T (p.L85=) - PDGFRB_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.255C>T r.(?) p.(Leu85=) - likely benign g.149515227G>A g.150135664G>A PDGFRB(NM_002609.3):c.255C>T (p.L85=) - PDGFRB_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.263C>T r.(?) p.(Thr88Ile) - likely benign g.149515219G>A g.150135656G>A PDGFRB(NM_002609.3):c.263C>T (p.T88I) - PDGFRB_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.263C>T r.(?) p.(Thr88Ile) - likely benign g.149515219G>A g.150135656G>A PDGFRB(NM_002609.3):c.263C>T (p.T88I) - PDGFRB_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.331G>A r.(?) p.(Asp111Asn) - likely benign g.149515151C>T g.150135588C>T PDGFRB(NM_002609.3):c.331G>A (p.D111N) - PDGFRB_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.365-4G>T r.spl? p.? - likely benign g.149514583C>A g.150135020C>A PDGFRB(NM_002609.3):c.365-4G>T (p.?) - PDGFRB_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.448C>T r.(?) p.(Arg150Ter) - VUS g.149514496G>A g.150134933G>A - - PDGFRB_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.541G>A r.(?) p.(Gly181Ser) - VUS g.149514403C>T - PDGFRB(NM_002609.3):c.541G>A (p.G181S) - PDGFRB_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.581T>C r.(?) p.(Ile194Thr) - likely benign g.149514363A>G g.150134800A>G PDGFRB(NM_002609.3):c.581T>C (p.(Ile194Thr), p.I194T) - PDGFRB_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.581T>C r.(?) p.(Ile194Thr) - likely benign g.149514363A>G g.150134800A>G PDGFRB(NM_002609.3):c.581T>C (p.(Ile194Thr), p.I194T) - PDGFRB_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.590G>A r.(?) p.(Arg197Lys) - likely benign g.149514354C>T g.150134791C>T PDGFRB(NM_002609.3):c.590G>A (p.R197K) - PDGFRB_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.714C>T r.(?) p.(Ile238=) - likely benign g.149513489G>A - PDGFRB(NM_001355017.1):c.231C>T (p.I77=) - PDGFRB_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.759+6G>T r.(=) p.(=) - likely benign g.149513438C>A g.150133875C>A PDGFRB(NM_002609.3):c.759+6G>T - PDGFRB_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.844G>A r.(?) p.(Glu282Lys) - likely benign g.149513239C>T g.150133676C>T PDGFRB(NM_002609.3):c.844G>A (p.E282K) - PDGFRB_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.858G>A r.(?) p.(Ser286=) - likely benign g.149513225C>T g.150133662C>T PDGFRB(NM_002609.3):c.858G>A (p.S286=) - PDGFRB_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.899A>G r.(?) p.(His300Arg) - likely benign g.149513184T>C g.150133621T>C PDGFRB(NM_002609.3):c.899A>G (p.(His300Arg), p.H300R) - PDGFRB_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.899A>G r.(?) p.(His300Arg) - likely benign g.149513184T>C g.150133621T>C PDGFRB(NM_002609.3):c.899A>G (p.(His300Arg), p.H300R) - PDGFRB_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.945C>T r.(?) p.(Tyr315=) - likely benign g.149512495G>A - PDGFRB(NM_001355017.1):c.462C>T (p.Y154=) - PDGFRB_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.946G>A r.(?) p.(Val316Met) - likely benign g.149512494C>T g.150132931C>T PDGFRB(NM_001355017.1):c.463G>A (p.V155M), PDGFRB(NM_002609.3):c.946G>A (p.V316M) - PDGFRB_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.946G>A r.(?) p.(Val316Met) - likely benign g.149512494C>T g.150132931C>T PDGFRB(NM_001355017.1):c.463G>A (p.V155M), PDGFRB(NM_002609.3):c.946G>A (p.V316M) - PDGFRB_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.950G>A r.(?) p.(Arg317Gln) - VUS g.149512490C>T g.150132927C>T - - PDGFRB_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.971C>T r.(?) p.(Thr324Ile) - likely benign g.149512469G>A g.150132906G>A PDGFRB(NM_002609.3):c.971C>T (p.(Thr324Ile)) - PDGFRB_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1029C>T r.(?) p.(Tyr343=) - likely benign g.149512411G>A g.150132848G>A PDGFRB(NM_002609.3):c.1029C>T (p.Y343=) - PDGFRB_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1033C>T r.(?) p.(Pro345Ser) - benign g.149512407G>A g.150132844G>A PDGFRB(NM_002609.3):c.1033C>T (p.P345S) - PDGFRB_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.1064G>A r.(?) p.(Arg355His) - likely benign g.149512376C>T g.150132813C>T PDGFRB(NM_002609.3):c.1064G>A (p.R355H) - PDGFRB_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1064G>A r.(?) p.(Arg355His) - VUS g.149512376C>T g.150132813C>T PDGFRB(NM_002609.3):c.1064G>A (p.R355H) - PDGFRB_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1106C>T r.(?) p.(Thr369Met) - VUS g.149512334G>A - PDGFRB(NM_001355017.1):c.623C>T (p.T208M) - PDGFRB_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1108C>T r.(?) p.(Arg370Cys) - likely benign g.149512332G>A g.150132769G>A PDGFRB(NM_002609.3):c.1108C>T (p.(Arg370Cys)) - PDGFRB_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1149G>C r.(?) p.(Leu383=) - likely benign g.149511636C>G g.150132073C>G PDGFRB(NM_002609.3):c.1149G>C (p.L383=) - PDGFRB_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.1149G>C r.(?) p.(Leu383=) - likely benign g.149511636C>G g.150132073C>G PDGFRB(NM_002609.3):c.1149G>C (p.L383=) - PDGFRB_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1149G>C r.(?) p.(Leu383=) - benign g.149511636C>G g.150132073C>G PDGFRB(NM_002609.3):c.1149G>C (p.L383=) - PDGFRB_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1243+4A>T r.spl? p.? - likely benign g.149511538T>A - PDGFRB(NM_002609.3):c.1243+4A>T (p.?) - PDGFRB_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1244-14C>T r.(=) p.(=) - likely benign g.149510239G>A g.150130676G>A PDGFRB(NM_002609.3):c.1244-14C>T - PDGFRB_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.1367+15G>A r.(=) p.(=) - likely benign g.149510087C>T g.150130524C>T PDGFRB(NM_002609.3):c.1367+15G>A - PDGFRB_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1368G>A r.(?) p.(Arg456=) - likely benign g.149509531C>T g.150129968C>T PDGFRB(NM_002609.3):c.1368G>A (p.(=)) - PDGFRB_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1376G>A r.(?) p.(Arg459His) - likely benign g.149509523C>T g.150129960C>T PDGFRB(NM_002609.3):c.1376G>A (p.R459H) - PDGFRB_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1391C>T r.(?) p.(Thr464Met) - likely benign g.149509508G>A g.150129945G>A PDGFRB(NM_002609.3):c.1391C>T (p.(Thr464Met), p.T464M) - PDGFRB_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.1391C>T r.(?) p.(Thr464Met) - likely benign g.149509508G>A g.150129945G>A PDGFRB(NM_002609.3):c.1391C>T (p.(Thr464Met), p.T464M) - PDGFRB_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1393C>T r.(?) p.(Leu465=) - likely benign g.149509506G>A g.150129943G>A PDGFRB(NM_002609.3):c.1393C>T (p.L465=) - PDGFRB_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1437C>T r.(?) p.(Asn479=) - likely benign g.149509462G>A g.150129899G>A PDGFRB(NM_002609.3):c.1437C>T (p.N479=) - PDGFRB_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1452G>A r.(?) p.(Glu484=) - likely benign g.149509447C>T g.150129884C>T PDGFRB(NM_001355017.1):c.969G>A (p.E323=) - PDGFRB_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1453G>A r.(?) p.(Glu485Lys) - benign g.149509446C>T g.150129883C>T PDGFRB(NM_002609.3):c.1453G>A (p.E485K) - PDGFRB_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.1473G>A r.(?) p.(Val491=) - likely benign g.149509426C>T g.150129863C>T PDGFRB(NM_002609.3):c.1473G>A (p.V491=) - PDGFRB_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1504C>T r.(?) p.(Arg502Trp) - likely benign g.149509395G>A g.150129832G>A PDGFRB(NM_002609.3):c.1504C>T (p.R502W) - PDGFRB_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.1504C>T r.(?) p.(Arg502Trp) - VUS g.149509395G>A g.150129832G>A PDGFRB(NM_002609.3):c.1504C>T (p.R502W) - PDGFRB_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1505G>A r.(?) p.(Arg502Gln) - likely benign g.149509394C>T g.150129831C>T PDGFRB(NM_002609.3):c.1505G>A (p.R502Q) - PDGFRB_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.1505G>A r.(?) p.(Arg502Gln) - likely benign g.149509394C>T g.150129831C>T PDGFRB(NM_002609.3):c.1505G>A (p.R502Q) - PDGFRB_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1554G>A r.(?) p.(Thr518=) - likely benign g.149509345C>T g.150129782C>T PDGFRB(NM_002609.3):c.1554G>A (p.T518=) - PDGFRB_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1574C>T r.(?) p.(Pro525Leu) - VUS g.149509325G>A - PDGFRB(NM_001355017.2):c.1091C>T (p.P364L) - PDGFRB_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1574C>T r.(?) p.(Pro525Leu) - VUS g.149509325G>A - PDGFRB(NM_001355017.2):c.1091C>T (p.P364L) - PDGFRB_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1579+10C>T r.(=) p.(=) - likely benign g.149509310G>A g.150129747G>A PDGFRB(NM_002609.3):c.1579+10C>T - PDGFRB_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 11 c.1615_1616insGAT r.(?) p.(Ile538_Leu539insArg) - pathogenic g.149506141_149506142insATC g.150126578_150126579insATC - - PDGFRB_000010 - Journal: Arts 2017 - - Somatic - 1789/8789 reads (0.20) - 0 - Florence Arts
+/. 11 c.1615_1616insGAT r.(?) p.(Ile538_Leu539insArg) - pathogenic g.149506141_149506142insATC g.150126578_150126579insATC - - PDGFRB_000010 - Journal: Arts 2017 - - Somatic - 231/1548 reads (0.15) - 0 - Florence Arts
+/. 11 c.1615_1616insGAT r.(?) p.(Ile538_Leu539insArg) - pathogenic g.149506141_149506142insATC g.150126578_150126579insATC - - PDGFRB_000010 - Journal: Arts 2017 - - Somatic - 614/2605 reads (0.24) - 0 - Florence Arts
+/. 11 c.1615_1616insGAT r.(?) p.(Ile538_Leu539insArg) - pathogenic g.149506141_149506142insATC g.150126578_150126579insATC - - PDGFRB_000010 - Journal: Arts 2017 - - Somatic - 710/4980 reads (0.14) - 0 - Florence Arts
?/. - c.1654C>T r.(?) p.(Leu552Phe) - VUS g.149506103G>A g.150126540G>A PDGFRB(NM_002609.3):c.1654C>T (p.L552F) - PDGFRB_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. 12 c.1681C>T r.(?) p.(Arg561Cys) - pathogenic g.149505134G>A g.150125571G>A - - PDGFRB_000009 - Journal: Arts 2017 - - Germline - 2156/4625 reads (0.47) - 0 - Florence Arts
+/. - c.1681C>T r.(?) p.(Arg561Cys) - pathogenic g.149505134G>A g.150125571G>A - - PDGFRB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 12 c.1696T>C r.(?) p.(Trp566Arg) - pathogenic g.149505119A>G g.150125556A>G - - PDGFRB_000008 - Journal: Arts 2017 - - Somatic - 371/3748 reads (0.10) - 0 - Florence Arts
+/. 12 c.1696T>C r.(?) p.(Trp566Arg) - pathogenic g.149505119A>G g.150125556A>G - - PDGFRB_000008 - Journal: Arts 2017 - - Somatic - 615/3322 reads (0.19) - 0 - Florence Arts
+/. 12 c.1696T>C r.(?) p.(Trp566Arg) - pathogenic g.149505119A>G g.150125556A>G - - PDGFRB_000008 - Journal: Arts 2017 - - Somatic - 259/2053 reads (0.13) - 0 - Florence Arts
+?/. - c.1696T>C r.(?) p.(Trp566Arg) - likely pathogenic g.149505119A>G - PDGFRB(NM_001355017.1):c.1213T>C (p.W405R) - PDGFRB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 12 c.1696T>M r.(?) p.(Trp566Arg) - pathogenic g.149505119A>K g.150125556A>K - - PDGFRB_000004 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. Takenouchi, IRDiRC 2017 - - De novo - - - 0 - Johan den Dunnen
+/. 12 c.1696T>M r.(?) p.(Trp566Arg) - pathogenic g.149505119A>K g.150125556A>K - - PDGFRB_000004 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. Takenouchi, IRDiRC 2017 - - De novo - - - 0 - Johan den Dunnen
+/. 12 c.1697_1702del r.(?) p.(Trp566_Val568delinsLeu) - pathogenic g.149505113_149505118del g.150125550_150125555del 1697_1702delGGAAGG - PDGFRB_000007 - Journal: Arts 2017 - - Somatic - 198/3171 reads (0.06) - 0 - Florence Arts
?/. - c.1723G>A r.(?) p.(Asp575Asn) - VUS g.149505092C>T g.150125529C>T PDGFRB(NM_002609.3):c.1723G>A (p.D575N) - PDGFRB_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. 12 c.1751C>G r.(?) p.(Pro584Arg) - pathogenic g.149505064G>C g.150125501G>C - - PDGFRB_000003 - PubMed: Takenouchi 2015, Journal: Takenouchi 2015, OMIM:var0005 - rs863224946 De novo - - - 0 - Johan den Dunnen
+/. 12 c.1751C>G r.(?) p.(Pro584Arg) - pathogenic g.149505064G>C g.150125501G>C - - PDGFRB_000003 - PubMed: Takenouchi 2015, Journal: Takenouchi 2015, OMIM:var0005 - rs863224946 De novo - - - 0 - Johan den Dunnen
-/. - c.1761G>A r.(?) p.(Leu587=) - benign g.149505054C>T g.150125491C>T PDGFRB(NM_002609.3):c.1761G>A (p.L587=) - PDGFRB_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1854G>A r.(?) p.(Thr618=) - benign g.149504348C>T g.150124785C>T PDGFRB(NM_002609.3):c.1854G>A (p.T618=) - PDGFRB_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1854G>A r.(?) p.(Thr618=) - benign g.149504348C>T g.150124785C>T PDGFRB(NM_002609.3):c.1854G>A (p.T618=) - PDGFRB_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1854G>A r.(?) p.(Thr618=) - benign g.149504348C>T g.150124785C>T PDGFRB(NM_002609.3):c.1854G>A (p.T618=) - PDGFRB_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1872T>C r.(?) p.(His624=) - likely benign g.149504330A>G g.150124767A>G PDGFRB(NM_002609.3):c.1872T>C (p.H624=) - PDGFRB_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. 14 c.1994T>C r.1994u>c p.Val665Ala - pathogenic g.149503842A>G g.150124279A>G - - PDGFRB_000001 - PubMed: Johnston 2015, Journal: Johnston 2015 - - De novo - - - 0 - Johan den Dunnen
+/. 14 c.1994T>C r.(?) p.(Val665Ala) - pathogenic g.149503842A>G g.150124279A>G - - PDGFRB_000001 - PubMed: Johnston 2015, Journal: Johnston 2015 - - De novo - - - 0 - Johan den Dunnen
+/. 14 c.1994T>C r.1994u>c p.(Val665Ala) - pathogenic g.149503842A>G g.150124279A>G - - PDGFRB_000001 - PubMed: Johnston 2015, Journal: Johnston 2015 - - Unknown - - - 0 - Johan den Dunnen
+/. 14 c.1994T>C r.(?) p.(Val665Ala) - pathogenic g.149503842A>G g.150124279A>G - - PDGFRB_000001 - PubMed: Johnston 2015, Journal: Johnston 2015 - - Unknown - - - 0 - Johan den Dunnen
+/. - c.1996A>C r.(?) p.(Asn666His) - pathogenic (dominant) g.149503840T>G g.150124277T>G N666H - PDGFRB_000075 - PubMed: Pond 2018 - - De novo - - - 0 - Johan den Dunnen
+/. 14 c.1997A>G r.(?) p.(Asn666Ser) - pathogenic (dominant) g.149503839T>C g.150124276T>C - - PDGFRB_000050 - - - - De novo - - - 0 - Gunnar Houge
+/. 14 c.1998C>A r.(?) p.(Asn666Lys) - pathogenic g.149503838G>T g.150124275G>T - - PDGFRB_000006 - Journal: Arts 2017 - - Somatic - 332/1699 reads (0.20) - 0 - Florence Arts
+/. 14 c.1998C>A r.(?) p.(Asn666Lys) - pathogenic g.149503838G>T g.150124275G>T - - PDGFRB_000006 - Journal: Arts 2017 - - Somatic - 559/2021 reads (0.28) - 0 - Florence Arts
+/. 14 c.1998C>A r.(?) p.(Asn666Lys) - pathogenic g.149503838G>T g.150124275G>T - - PDGFRB_000006 - Journal: Arts 2017 - - Somatic - 433/6320 reads (0.07) - 0 - Florence Arts
+/. 14 c.1998C>A r.(?) p.(Asn666Lys) - pathogenic g.149503838G>T g.150124275G>T - - PDGFRB_000006 - Journal: Arts 2017 - - Somatic - 178/4807 reads (0.04) - 0 - Florence Arts
+/. 14 c.1998C>A r.(?) p.(Asn666Lys) - pathogenic g.149503838G>T g.150124275G>T - - PDGFRB_000006 - Journal: Arts 2017 - - Somatic - 340/6052 reads (0.06) - 0 - Florence Arts
+/. 14 c.1998C>G r.(?) p.(Asn666Lys) - pathogenic g.149503838G>C g.150124275G>C - - PDGFRB_000005 - Journal: Arts 2017 - - Somatic - 181/1066 reads (0.17) - 0 - Florence Arts
-?/. - c.2058C>T r.(?) p.(Tyr686=) - likely benign g.149502730G>A g.150123167G>A PDGFRB(NM_002609.3):c.2058C>T (p.Y686=) - PDGFRB_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.2126G>A r.(?) p.(Arg709His) - likely benign g.149502662C>T g.150123099C>T PDGFRB(NM_002609.3):c.2126G>A (p.R709H) - PDGFRB_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.2195T>G r.(?) p.(Leu732Trp) - VUS g.149501592A>C g.150122029A>C PDGFRB(NM_002609.3):c.2195T>G (p.L732W) - PDGFRB_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2321C>G r.(?) p.(Pro774Arg) - VUS g.149501466G>C g.150121903G>C PDGFRB(NM_002609.3):c.2321C>G (p.P774R) - PDGFRB_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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