All variants in the PLXNB3 gene

Information The variants shown are described using the NM_005393.2 transcript reference sequence.

104 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.-319019_*565412dup r.0? p.0? - pathogenic g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
+/. _1_2i c.-33583_46-378del r.0? p.0? - pathogenic g.152996242_153031950del g.153730787_153766495del del ex3-10 and PLXNB3 ex1-2 - ABCD1_000036 deletion fuses ABCD1 and PLXNB3 gene (transcript not analysed) PubMed: Matsumoto 2005, Journal: Matsumoto 2005 - - Germline yes - - 0 - Johan den Dunnen
?/. - c.46-587C>T r.(=) p.(=) - VUS g.153031741C>T - PLXNB3(NM_001163257.1):c.76C>T (p.R26W) - PLXNB3_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.46-565G>A r.(=) p.(=) - likely benign g.153031763G>A g.153766308G>A PLXNB3(NM_001163257.1):c.98G>A (p.R33Q) - PLXNB3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.68C>A r.(?) p.(Pro23His) - likely benign g.153032350C>A g.153766895C>A PLXNB3(NM_001163257.1):c.137C>A (p.P46H) - PLXNB3_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.91C>A r.(?) p.(Leu31Met) - VUS g.153032373C>A - PLXNB3(NM_001163257.1):c.160C>A (p.L54M) - PLXNB3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.238G>A r.(?) p.(Glu80Lys) - likely benign g.153032520G>A g.153767065G>A PLXNB3(NM_001163257.1):c.307G>A (p.E103K) - PLXNB3_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.366G>A r.(?) p.(Val122=) - likely benign g.153032648G>A - PLXNB3(NM_001163257.1):c.435G>A (p.V145=) - PLXNB3_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.396C>T r.(?) p.(Cys132=) - likely benign g.153032678C>T - PLXNB3(NM_001163257.1):c.465C>T (p.C155=) - PLXNB3_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.406C>T r.(?) p.(Arg136Trp) - likely benign g.153032688C>T g.153767233C>T PLXNB3(NM_001163257.1):c.475C>T (p.(Arg159Trp)) - PLXNB3_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.648C>T r.(?) p.(Ser216=) - likely benign g.153032930C>T g.153767475C>T PLXNB3(NM_001163257.1):c.717C>T (p.S239=) - PLXNB3_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.662G>A r.(?) p.(Arg221His) - VUS g.153032944G>A g.153767489G>A PLXNB3(NM_001163257.1):c.731G>A (p.R244H) - PLXNB3_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.672G>A r.(?) p.(Val224=) - VUS g.153032954G>A g.153767499G>A PLXNB3(NM_001163257.1):c.741G>A (p.V247=) - PLXNB3_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.828C>T r.(?) p.(Tyr276=) - likely benign g.153033110C>T g.153767655C>T PLXNB3(NM_001163257.1):c.897C>T (p.Y299=) - PLXNB3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.938C>T r.(?) p.(Ala313Val) - VUS g.153033220C>T g.153767765C>T PLXNB3(NM_001163257.1):c.1007C>T (p.A336V) - PLXNB3_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1015C>T r.(?) p.(Arg339Trp) - likely benign g.153033297C>T g.153767842C>T PLXNB3(NM_001163257.1):c.1084C>T (p.(Arg362Trp)) - PLXNB3_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1027G>A r.(?) p.(Gly343Ser) - likely benign g.153033309G>A g.153767854G>A - - PLXNB3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1029C>T r.(?) p.(Gly343=) - likely benign g.153033311C>T - PLXNB3(NM_001163257.1):c.1098C>T (p.G366=) - PLXNB3_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1057G>A r.(?) p.(Val353Ile) - VUS g.153033339G>A g.153767884G>A PLXNB3(NM_001163257.1):c.1126G>A (p.V376I) - PLXNB3_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1095C>T r.(?) p.(Pro365=) - likely benign g.153033712C>T - PLXNB3(NM_001163257.1):c.1164C>T (p.P388=) - PLXNB3_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1198G>A r.(?) p.(Val400Met) - VUS g.153033815G>A g.153768360G>A - - PLXNB3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1209C>T r.(=) p.(=) - likely benign g.153033826C>T g.153768371C>T L403L - PLXNB3_000073 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
-?/. - c.1358G>A r.(?) p.(Ser453Asn) - likely benign g.153034494G>A - PLXNB3(NM_001163257.1):c.1427G>A (p.S476N) - PLXNB3_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 6 c.1466C>T r.(?) p.(Pro489Leu) - VUS g.153034687C>T g.153769232C>T - - PLXNB3_000009 not in ExAC or in-house database (312 individuals), variant of unknown significance - - rs201696853 Germline ? - - 0 - Sander Pajusalu
./. - c.1496+35C>T r.(=) p.(=) - VUS g.153034752C>T g.153769297C>T - - PLXNB3_000001 - - - - Germline - - - - - Yu Sun
./. - c.1496+35C>T r.(=) p.(=) - VUS g.153034752C>T g.153769297C>T - - PLXNB3_000001 - - - - Germline - - - - - Yu Sun
?/. - c.1519G>A r.(?) p.(Gly507Arg) - VUS g.153035284G>A g.153769829G>A PLXNB3(NM_001163257.1):c.1588G>A (p.(Gly530Arg)) - PLXNB3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1715A>G r.(?) p.(His572Arg) - likely benign g.153035632A>G g.153770177A>G PLXNB3(NM_001163257.1):c.1784A>G (p.H595R) - PLXNB3_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1776T>C r.(=) p.(=) - likely benign g.153035693T>C g.153770238T>C P592P - PLXNB3_000074 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. 9 c.1792G>A r.(?) p.(Val598Ile) - likely benign g.153035798G>A g.153770343G>A - - PLXNB3_000005 - - - - Germline - - - 0 - Yu Sun
-?/. 9 c.1792G>A r.(?) p.(Val598Ile) - likely benign g.153035798G>A g.153770343G>A - - PLXNB3_000005 - - - - Germline - - - 0 - Yu Sun
?/. - c.1895C>T r.(?) p.(Pro632Leu) - VUS g.153035901C>T g.153770446C>T PLXNB3(NM_001163257.1):c.1964C>T (p.P655L) - PLXNB3_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1901G>A r.(?) p.(Arg634His) - likely benign g.153035988G>A g.153770533G>A PLXNB3(NM_001163257.1):c.1970G>A (p.R657H) - PLXNB3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1912G>A r.(?) p.(Gly638Ser) - likely benign g.153035999G>A g.153770544G>A PLXNB3(NM_001163257.1):c.1981G>A (p.G661S) - PLXNB3_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1962C>T r.(?) p.(Tyr654=) - likely benign g.153036049C>T g.153770594C>T PLXNB3(NM_001163257.1):c.2031C>T (p.Y677=) - PLXNB3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1988G>C r.(?) p.(Arg663Thr) - likely benign g.153036075G>C g.153770620G>C PLXNB3(NM_001163257.1):c.2057G>C (p.R686T) - PLXNB3_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1991C>T r.(?) p.(Thr664Ile) - likely benign g.153036078C>T g.153770623C>T PLXNB3(NM_001163257.1):c.2060C>T (p.(Thr687Ile)) - PLXNB3_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2113G>A r.(?) p.(Val705Met) - likely benign g.153036315G>A g.153770860G>A PLXNB3(NM_001163257.1):c.2182G>A (p.V728M) - PLXNB3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2156A>G r.(?) p.(His719Arg) - VUS g.153036439A>G g.153770984A>G PLXNB3(NM_001163257.1):c.2225A>G (p.(His742Arg)) - PLXNB3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.2185C>T r.(?) p.(Arg729Trp) - VUS g.153036468C>T g.153771013C>T PLXNB3(NM_001163257.1):c.2254C>T (p.(Arg752Trp)) - PLXNB3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2208G>A r.(=) p.(=) - likely benign g.153036491G>A g.153771036G>A E736E - PLXNB3_000075 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.2221G>A r.(?) p.(Asp741Asn) - VUS g.153036504G>A g.153771049G>A PLXNB3(NM_001163257.1):c.2290G>A (p.D764N, p.(Asp764Asn)) - PLXNB3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2221G>A r.(?) p.(Asp741Asn) - likely benign g.153036504G>A g.153771049G>A PLXNB3(NM_001163257.1):c.2290G>A (p.D764N, p.(Asp764Asn)) - PLXNB3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2307G>C r.(?) p.(Gln769His) - likely benign g.153036818G>C g.153771363G>C PLXNB3(NM_001163257.1):c.2376G>C (p.Q792H, p.(Gln792His)) - PLXNB3_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2307G>C r.(?) p.(Gln769His) - likely benign g.153036818G>C g.153771363G>C PLXNB3(NM_001163257.1):c.2376G>C (p.Q792H, p.(Gln792His)) - PLXNB3_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2365G>A r.(?) p.(Ala789Thr) - VUS g.153036958G>A g.153771503G>A PLXNB3(NM_001163257.1):c.2434G>A (p.(Ala812Thr)) - PLXNB3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2378C>T r.(?) p.(Pro793Leu) - likely benign g.153036971C>T g.153771516C>T PLXNB3(NM_001163257.1):c.2447C>T (p.(Pro816Leu)) - PLXNB3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2474C>T r.(?) p.(Pro825Leu) - likely benign g.153037067C>T g.153771612C>T PLXNB3(NM_001163257.1):c.2543C>T (p.P848L) - PLXNB3_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 14i c.2518-44C>T r.(?) p.(=) - likely benign g.153037275C>T g.153771820C>T - - PLXNB3_000008 - - - - Germline - - - 0 - Yu Sun
-?/. 14i c.2518-44C>T r.(?) p.(=) - likely benign g.153037275C>T g.153771820C>T - - PLXNB3_000008 - - - - Germline - - - 0 - Yu Sun
-?/. - c.2585G>T r.(?) p.(Arg862Leu) - likely benign g.153037386G>T g.153771931G>T PLXNB3(NM_001163257.1):c.2654G>T (p.R885L) - PLXNB3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2627G>A r.(?) p.(Arg876Gln) - VUS g.153037428G>A g.153771973G>A PLXNB3(NM_001163257.1):c.2696G>A (p.(Arg899Gln)) - PLXNB3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
./. - c.2670-43C>G r.(=) p.(=) - VUS g.153037594C>G g.153772139C>G - - PLXNB3_000010 - - - - Germline - - - - - Yu Sun
./. - c.2670-43C>G r.(=) p.(=) - VUS g.153037594C>G g.153772139C>G - - PLXNB3_000010 - - - - Germline - - - - - Yu Sun
./. - c.2775+66G>A r.(=) p.(=) - VUS g.153037808G>A g.153772353G>A - - PLXNB3_000013 - - - - Germline - - - - - Yu Sun
./. - c.2775+66G>A r.(=) p.(=) - VUS g.153037808G>A g.153772353G>A - - PLXNB3_000013 - - - - Germline - - - - - Yu Sun
./. - c.2775+257G>C r.(=) p.(=) - VUS g.153037999G>C g.153772544G>C - - PLXNB3_000023 - - - - Germline - - - - - Yu Sun
./. - c.2775+257G>C r.(=) p.(=) - VUS g.153037999G>C g.153772544G>C - - PLXNB3_000023 - - - - Germline - - - - - Yu Sun
./. - c.2906+45C>G r.(=) p.(=) - VUS g.153038516C>G g.153773061= - - PLXNB3_000025 - - - - Germline - - - - - Yu Sun
./. - c.2906+45C>G r.(=) p.(=) - VUS g.153038516C>G g.153773061= - - PLXNB3_000025 - - - - Germline - - - - - Yu Sun
./. - c.2907-24G>C r.(=) p.(=) - VUS g.153038661G>C g.153773206G>C - - PLXNB3_000028 - - - - Germline - - - - - Yu Sun
./. - c.2907-24G>C r.(=) p.(=) - VUS g.153038661G>C g.153773206G>C - - PLXNB3_000028 - - - - Germline - - - - - Yu Sun
-?/. - c.2942G>A r.(?) p.(Arg981His) - likely benign g.153038720G>A g.153773265G>A PLXNB3(NM_001163257.1):c.3011G>A (p.R1004H) - PLXNB3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2995C>A r.(?) p.(His999Asn) - likely benign g.153038773C>A g.153773318C>A PLXNB3(NM_001163257.1):c.3064C>A (p.H1022N) - PLXNB3_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3028C>T r.(?) p.(Arg1010Cys) - likely benign g.153038806C>T g.153773351C>T PLXNB3(NM_001163257.1):c.3097C>T (p.R1033C) - PLXNB3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3080G>A r.(?) p.(Arg1027Gln) - likely benign g.153038858G>A g.153773403G>A PLXNB3(NM_001163257.1):c.3149G>A (p.(Arg1050Gln)) - PLXNB3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.3279+8C>T r.(=) p.(=) - likely benign g.153039176C>T g.153773721C>T PLXNB3(NM_001163257.1):c.3348+8C>T (p.(=)) - PLXNB3_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3361C>A r.(?) p.(Arg1121=) - likely benign g.153039395C>A - PLXNB3(NM_001163257.1):c.3430C>A (p.R1144=) - PLXNB3_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3446G>A r.(?) p.(Arg1149His) - VUS g.153039480G>A g.153774025G>A PLXNB3(NM_001163257.1):c.3515G>A (p.(Arg1172His)) - PLXNB3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.3452C>T r.(?) p.(Ala1151Val) - VUS g.153039486C>T g.153774031C>T PLXNB3(NM_001163257.1):c.3521C>T (p.(Ala1174Val)) - PLXNB3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
./. - c.3468G>C r.(?) p.(Glu1156Asp) - VUS g.153039502G>C g.153774047G>C - - PLXNB3_000031 - - - - Germline - - - - - Yu Sun
./. - c.3468G>C r.(?) p.(Glu1156Asp) - VUS g.153039502G>C g.153774047G>C - - PLXNB3_000031 - - - - Germline - - - - - Yu Sun
./. - c.3520-26A>G r.(=) p.(=) - VUS g.153039615A>G g.153774160= - - PLXNB3_000034 - - - - Germline - - - - - Yu Sun
./. - c.3520-26A>G r.(=) p.(=) - VUS g.153039615A>G g.153774160= - - PLXNB3_000034 - - - - Germline - - - - - Yu Sun
-?/. - c.4039G>A r.(?) p.(Gly1347Ser) - likely benign g.153040442G>A g.153774987G>A PLXNB3(NM_001163257.1):c.4108G>A (p.G1370S) - PLXNB3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4062T>C r.(?) p.(Pro1354=) - likely benign g.153040465T>C - PLXNB3(NM_001163257.1):c.4131T>C (p.P1377=) - PLXNB3_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4080C>T r.(?) p.(Asp1360=) - likely benign g.153040483C>T - PLXNB3(NM_001163257.1):c.4149C>T (p.D1383=) - PLXNB3_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4113G>A r.(=) p.(=) - likely benign g.153040516G>A g.153775061G>A T1371T - PLXNB3_000076 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.4141C>T r.(?) p.(Leu1381Phe) - likely benign g.153040544C>T g.153775089C>T PLXNB3(NM_001163257.1):c.4210C>T (p.L1404F) - PLXNB3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.4184G>A r.(?) p.(Ser1395Asn) - likely benign g.153040708G>A g.153775253G>A PLXNB3(NM_001163257.1):c.4253G>A (p.(Ser1418Asn)) - PLXNB3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.4232C>A r.(?) p.(Ala1411Glu) - VUS g.153040756C>A g.153775301C>A PLXNB3(NM_001163257.1):c.4301C>A (p.A1434E) - PLXNB3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4375T>C r.(?) p.(Ser1459Pro) - VUS g.153041089T>C - PLXNB3(NM_001163257.1):c.4444T>C (p.S1482P) - PLXNB3_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 27 c.4604T>C r.(?) p.(Met1535Thr) - VUS g.153041544T>C g.153776089T>C - - PLXNB3_000007 - - - - Germline - - - 0 - Yu Sun
?/. 27 c.4604T>C r.(?) p.(Met1535Thr) - VUS g.153041544T>C g.153776089T>C - - PLXNB3_000007 - - - - Germline - - - 0 - Yu Sun
./. - c.4834-105G>A r.(=) p.(=) - VUS g.153042237G>A g.153776782G>A - - PLXNB3_000018 - - - - Germline - - - - - Yu Sun
?/. - c.4834-4C>T r.spl? p.? - VUS g.153042338C>T g.153776883C>T PLXNB3(NM_001163257.1):c.4903-4C>T (p.?) - PLXNB3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
./. - c.4911G>A r.(=) p.(=) - VUS g.153042419G>A g.153776964G>A - - PLXNB3_000019 - - - - Germline - - - - - Yu Sun
./. - c.4911G>A r.(=) p.(=) - VUS g.153042419G>A g.153776964G>A - - PLXNB3_000019 - - - - Germline - - - - - Yu Sun
?/. - c.4926G>C r.(?) p.(Glu1642Asp) - VUS g.153042434G>C g.153776979G>C PLXNB3(NM_001163257.1):c.4995G>C (p.E1665D) - SRPK3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4963dup r.(?) p.(Val1655GlyfsTer76) - VUS g.153042698dup g.153777243dup PLXNB3(NM_001163257.1):c.5024_5025insG (p.(Val1678GlyfsTer76)) - PLXNB3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.5125G>A r.(?) p.(Asp1709Asn) - VUS g.153043007G>A - PLXNB3(NM_001163257.1):c.5194G>A (p.D1732N) - SRPK3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.5309T>A r.(?) p.(Ile1770Asn) - VUS g.153043450T>A - PLXNB3(NM_001163257.1):c.5378T>A (p.I1793N) - SRPK3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.5359G>A r.(?) p.(Ala1787Thr) - VUS g.153043500G>A g.153778045G>A PLXNB3(NM_001163257.1):c.5428G>A (p.A1810T) - PLXNB3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.5390C>T r.(?) p.(Ser1797Leu) - VUS g.153043531C>T g.153778076C>T PLXNB3(NM_001163257.1):c.5459C>T (p.S1820L) - PLXNB3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.5609A>G r.(?) p.(His1870Arg) - VUS g.153044113A>G g.153778658A>G PLXNB3(NM_001163257.1):c.5678A>G (p.H1893R) - PLXNB3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.5707G>A r.(?) p.(Glu1903Lys) - VUS g.153044471G>A g.153779016G>A PLXNB3(NM_001163257.1):c.5776G>A (p.E1926K) - PLXNB3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*2267C>T r.(=) p.(=) - likely benign g.153046761C>T - SRPK3(NM_014370.3):c.150C>T (p.S50=) - SRPK3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*2478C>T r.(=) p.(=) - VUS g.153046972C>T - SRPK3(NM_014370.3):c.203C>T (p.P68L) - SRPK3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*2579G>C r.(=) p.(=) - VUS g.153047073G>C g.153781618G>C - - SRPK3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*2745G>A r.(=) p.(=) - likely benign g.153047239G>A g.153781784G>A SRPK3(NM_001170760.1):c.341G>A (p.(Gly114Glu)) - SRPK3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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