Unique variants in the PDGFRB gene

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

102 entries on 2 pages. Showing entries 1 - 100.
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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     
-/. 1 - c.-302C>T r.(?) p.(=) - benign g.149535255G>A g.150155692G>A - - PDGFRB_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - 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
-?/. 1 - 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
+/. 1 - 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 - - - - - Johan den Dunnen
+/. 1 - 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 - - - - - Johan den Dunnen
?/. 1 - 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
-?/. 1 - 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
-?/. 2 - 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, VKGL-NL_VUmc
-?/. 1 - 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 - - - - - VKGL-NL_VUmc
-?/. 1 - 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
-?/. 2 - 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, VKGL-NL_VUmc
-?/. 2 - 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, VKGL-NL_VUmc
-?/. 1 - 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 - - - - - VKGL-NL_VUmc
-?/. 1 - 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
?/. 1 - 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
?/. 1 - 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
-?/. 2 - 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, VKGL-NL_VUmc
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - 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
-?/. 1 - 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
-?/. 1 - 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
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 2 - 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, VKGL-NL_VUmc
-?/. 1 - 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
-?/. 2 - 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, VKGL-NL_VUmc
?/. 1 - 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
-?/. 1 - 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
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - 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 - - - - - VKGL-NL_VUmc
-?/., ?/. 2 - c.1064G>A r.(?) p.(Arg355His) - likely benign, 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_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - 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
-?/. 1 - 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
-/., -?/. 3 - c.1149G>C r.(?) p.(Leu383=) - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - 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
-?/. 1 - 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 - - - - - VKGL-NL_VUmc
-?/. 1 - 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
-?/. 1 - 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
-?/. 1 - 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
-?/. 2 - 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, VKGL-NL_VUmc
-?/. 1 - 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
-?/. 1 - 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
-?/. 1 - 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
-/. 1 - 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 - - - - - VKGL-NL_VUmc
-?/. 1 - 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
-?/., ?/. 2 - c.1504C>T r.(?) p.(Arg502Trp) - likely benign, 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, VKGL-NL_VUmc
-?/. 2 - 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, VKGL-NL_VUmc
-?/. 1 - 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
?/. 2 - 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, VKGL-NL_VUmc
-?/. 1 - 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
+/. 4 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), 231/1548 reads (0.15), 614/2605 reads (0.24), 710/4980 reads (0.14) - - - Florence Arts
?/. 1 - 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 - - - - - VKGL-NL_VUmc
+/. 2 12 c.1681C>T r.(?) p.(Arg561Cys) - pathogenic g.149505134G>A g.150125571G>A - - PDGFRB_000009 VKGL data sharing initiative Nederland Journal: Arts 2017 - - CLASSIFICATION record, Germline - 2156/4625 reads (0.47) - - - Florence Arts, VKGL-NL_Nijmegen
+/., +?/. 4 12 c.1696T>C r.(?) p.(Trp566Arg) - likely pathogenic, pathogenic g.149505119A>G g.150125556A>G PDGFRB(NM_001355017.1):c.1213T>C (p.W405R) - PDGFRB_000008 VKGL data sharing initiative Nederland Journal: Arts 2017 - - CLASSIFICATION record, Somatic - 259/2053 reads (0.13), 371/3748 reads (0.10), 615/3322 reads (0.19) - - - Florence Arts, VKGL-NL_Rotterdam
+/. 2 12 c.1696T>M r.(?) p.(Trp566Arg) - pathogenic g.149505119A>K g.150125556A>K - - PDGFRB_000004 1 more item Takenouchi, IRDiRC 2017 - - De novo - - - - - Johan den Dunnen
+/. 1 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) - - - Florence Arts
?/. 1 - 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 - - - - - VKGL-NL_VUmc
+/. 2 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 - - - - - Johan den Dunnen
-/. 1 - 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
-/. 3 - 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_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - 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 - - - - - VKGL-NL_VUmc
+/. 4 14 c.1994T>C r.(?), r.1994u>c p.(Val665Ala), p.Val665Ala - pathogenic g.149503842A>G g.150124279A>G - - PDGFRB_000001 - PubMed: Johnston 2015, Journal: Johnston 2015 - - De novo, Unknown - - - - - Johan den Dunnen
+/. 1 - c.1996A>C r.(?) p.(Asn666His) - pathogenic (dominant) g.149503840T>G g.150124277T>G N666H - PDGFRB_000075 - PubMed: Pond 2018 - - De novo - - - - - Johan den Dunnen
+/. 1 14 c.1997A>G r.(?) p.(Asn666Ser) - pathogenic (dominant) g.149503839T>C g.150124276T>C - - PDGFRB_000050 - - - - De novo - - - - - Gunnar Houge
+/. 5 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), 332/1699 reads (0.20), 340/6052 reads (0.06), 433/6320 reads (0.07), 1 more item - - - Florence Arts
+/. 1 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) - - - Florence Arts
-?/. 1 - 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 - - - - - VKGL-NL_VUmc
-?/. 1 - 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 - - - - - VKGL-NL_VUmc
?/. 1 - 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
?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2326G>A r.(?) p.(Asp776Asn) - VUS g.149501461C>T g.150121898C>T PDGFRB(NM_002609.3):c.2326G>A (p.D776N) - PDGFRB_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.2345-18C>T r.(=) p.(=) - likely benign g.149500903G>A g.150121340G>A PDGFRB(NM_002609.3):c.2345-18C>T - PDGFRB_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.2464-3C>T r.spl? p.? - likely benign g.149500576G>A - PDGFRB(NM_001355017.1):c.1981-3C>T - PDGFRB_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.2466C>T r.(?) p.(Cys822=) - likely benign g.149500571G>A g.150121008G>A PDGFRB(NM_002609.3):c.2466C>T (p.C822=) - PDGFRB_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.2467G>A r.(?) p.(Val823Ile) - VUS g.149500570C>T - - - PDGFRB_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.2523G>A r.(?) p.(Lys841=) - likely benign g.149500514C>T g.150120951C>T PDGFRB(NM_002609.3):c.2523G>A (p.K841=) - PDGFRB_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+/. 2 18 c.2549A>T r.(?) p.(Asp850Val) - pathogenic g.149500488T>A g.150120925T>A - - PDGFRB_000002 0/2224 reads in blood Journal: Arts 2017 - - Somatic - 142/2373 reads (0.06), 2517/7743 (0.33) - - - Florence Arts
?/. 1 - c.2582G>A r.(?) p.(Gly861Asp) - VUS g.149500455C>T g.150120892C>T PDGFRB(NM_002609.3):c.2582G>A (p.G861D) - PDGFRB_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.2601A>G r.(?) p.(Leu867=) - benign g.149499672T>C g.150120109T>C PDGFRB(NM_002609.3):c.2601A>G (p.L867=) - PDGFRB_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 1 - c.2615C>T r.(?) p.(Pro872Leu) - VUS g.149499658G>A - PDGFRB(NM_001355017.1):c.2132C>T (p.P711L) - PDGFRB_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2643C>T r.(?) p.(Thr881=) - likely benign g.149499630G>A g.150120067G>A PDGFRB(NM_002609.3):c.2643C>T (p.T881=) - PDGFRB_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2655C>T r.(?) p.(Asp885=) - likely benign g.149499618G>A g.150120055G>A PDGFRB(NM_002609.3):c.2655C>T (p.D885=) - PDGFRB_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.2756G>A r.(?) p.(Arg919Gln) - VUS g.149499072C>T g.150119509C>T PDGFRB(NM_002609.3):c.2756G>A (p.R919Q) - PDGFRB_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2782C>T r.(?) p.(His928Tyr) - VUS g.149499046G>A g.150119483G>A PDGFRB(NM_002609.3):c.2782C>T (p.H928Y) - PDGFRB_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.2844G>A r.(?) p.(Arg948=) - likely benign g.149498370C>T g.150118807C>T PDGFRB(NM_002609.3):c.2844G>A (p.R948=) - PDGFRB_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.2889C>T r.(?) p.(Gly963=) - likely benign g.149498325G>A g.150118762G>A PDGFRB(NM_002609.3):c.2889C>T (p.G963=) - PDGFRB_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2904+15G>A r.(=) p.(=) - likely benign g.149498295C>T g.150118732C>T PDGFRB(NM_002609.3):c.2904+15G>A - PDGFRB_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.2905-8G>A r.(=) p.(=) - VUS g.149497421C>T g.150117858C>T - - CSF1R_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2929T>C r.(?) p.(Phe977Leu) - VUS g.149497389A>G g.150117826A>G PDGFRB(NM_002609.3):c.2929T>C (p.F977L) - PDGFRB_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2939G>A r.(?) p.(Ser980Asn) - VUS g.149497379C>T g.150117816C>T PDGFRB(NM_002609.3):c.2939G>A (p.S980N) - PDGFRB_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2960G>A r.(?) p.(Arg987Gln) - VUS g.149497358C>T g.150117795C>T PDGFRB(NM_002609.3):c.2960G>A (p.R987Q) - CSF1R_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.2997A>T r.(?) p.(Arg999=) - likely benign g.149497321T>A g.150117758T>A PDGFRB(NM_002609.3):c.2997A>T (p.R999=) - CSF1R_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.3033C>T r.(?) p.(Ala1011=) - likely benign g.149497285G>A g.150117722G>A PDGFRB(NM_002609.3):c.3033C>T (p.A1011=) - CSF1R_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.3075G>T r.(?) p.(Leu1025=) - likely benign g.149497243C>A g.150117680C>A PDGFRB(NM_002609.3):c.3075G>T (p.L1025=) - CSF1R_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 3 - c.3090C>T r.(?) p.(Pro1030=) - benign g.149497228G>A g.150117665G>A PDGFRB(NM_002609.3):c.3090C>T (p.P1030=) - PDGFRB_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.3102C>T r.(?) p.(Asp1034=) - likely benign g.149497216G>A g.150117653G>A PDGFRB(NM_002609.3):c.3102C>T (p.D1034=) - CSF1R_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 4 - c.3137+4A>G r.spl? p.? - benign g.149497177T>C g.150117614T>C PDGFRB(NM_002609.3):c.3137+4A>G - PDGFRB_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.3165C>T r.(?) p.(Ser1055=) - likely benign g.149495482G>A g.150115919G>A PDGFRB(NM_002609.3):c.3165C>T (p.S1055=) - PDGFRB_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.3246G>A r.(?) p.(Pro1082=) - likely benign g.149495401C>T g.150115838C>T PDGFRB(NM_002609.3):c.3246G>A (p.P1082=) - CSF1R_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 4 - c.3252A>G r.(?) p.(Pro1084=) - benign g.149495395T>C g.150115832T>C PDGFRB(NM_002609.3):c.3252A>G (p.P1084=) - PDGFRB_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.3270G>A r.(?) p.(Pro1090=) - likely benign g.149495377C>T - PDGFRB(NM_001355017.1):c.2787G>A (p.P929=) - CSF1R_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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