All variants in the PLXNA3 gene

Information The variants shown are described using the NM_017514.3 transcript reference sequence.

145 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.-120955_*1021401dup - - - pathogenic g.153565841_154722429dup g.154337626_155494214dup - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
./. - c.-116388_*160080dup r.0? p.0? - pathogenic g.153570408_153861108dup g.154342193_154632893dup GDI1 - FLNA_000307 - PubMed: Hu 2016 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.39C>T r.(?) p.(Ala13=) - likely benign g.153688562C>T - PLXNA3(NM_017514.4):c.39C>T (p.A13=) - PLXNA3_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.56G>A r.(?) p.(Gly19Asp) - likely benign g.153688579G>A g.154460239G>A PLXNA3(NM_017514.4):c.56G>A (p.G19D) - PLXNA3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.71G>A r.(?) p.(Arg24His) - likely benign g.153688594G>A - PLXNA3(NM_017514.4):c.71G>A (p.R24H) - PLXNA3_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.78C>T r.(?) p.(Phe26=) - likely benign g.153688601C>T - PLXNA3(NM_017514.4):c.78C>T (p.F26=) - PLXNA3_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.79G>A r.(?) p.(Val27Met) - likely benign g.153688602G>A g.154460262G>A PLXNA3(NM_017514.4):c.79G>A (p.V27M) - PLXNA3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.138C>T r.(?) p.(Phe46=) - likely benign g.153688661C>T g.154460321C>T PLXNA3(NM_017514.4):c.138C>T (p.F46=) - PLXNA3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.172C>T r.(?) p.(Pro58Ser) - likely benign g.153688695C>T g.154460355C>T PLXNA3(NM_017514.4):c.172C>T (p.P58S) - PLXNA3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.196C>T r.(?) p.(His66Tyr) - VUS g.153688719C>T g.154460379C>T PLXNA3(NM_017514.3):c.196C>T (p.(His66Tyr)) - PLXNA3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/. - c.196C>T r.(?) p.(His66Tyr) - likely pathogenic g.153688719C>T g.154460379C>T - - PLXNA3_000003 - PubMed: Jin 2017 - - Germline - - - 0 - LOVD
?/. - c.202A>G r.(?) p.(Thr68Ala) - VUS g.153688725A>G g.154460385A>G PLXNA3(NM_017514.5):c.202A>G (p.T68A) - PLXNA3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.210C>T r.(?) p.(Pro70=) - likely benign g.153688733C>T g.154460393C>T PLXNA3(NM_017514.4):c.210C>T (p.P70=) - PLXNA3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.213C>T r.(?) p.(Val71=) - likely benign g.153688736C>T - PLXNA3(NM_017514.4):c.213C>T (p.V71=) - PLXNA3_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.222C>T r.(?) p.(Asn74=) - likely benign g.153688745C>T g.154460405C>T PLXNA3(NM_017514.4):c.222C>T (p.N74=) - PLXNA3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.252C>T r.(?) p.(Arg84=) - likely benign g.153688775C>T g.154460435C>T PLXNA3(NM_017514.4):c.252C>T (p.R84=) - PLXNA3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.272C>G r.(?) p.(Ala91Gly) - likely benign g.153688795C>G g.154460455C>G PLXNA3(NM_017514.4):c.272C>G (p.A91G) - PLXNA3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.315G>A r.(?) p.(Ala105=) - likely benign g.153688838G>A - PLXNA3(NM_017514.4):c.315G>A (p.A105=) - PLXNA3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.320G>A r.(?) p.(Arg107His) - likely benign g.153688843G>A g.154460503G>A PLXNA3(NM_017514.3):c.320G>A (p.(Arg107His)) - PLXNA3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.336C>T r.(?) p.(Cys112=) - likely benign g.153688859C>T - PLXNA3(NM_017514.4):c.336C>T (p.C112=) - PLXNA3_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.371G>A r.(?) p.(Arg124His) - likely benign g.153688894G>A g.154460554G>A PLXNA3(NM_017514.4):c.371G>A (p.R124H) - PLXNA3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.409C>T r.(?) p.(Arg137Cys) - likely benign g.153688932C>T g.154460592C>T PLXNA3(NM_017514.3):c.409C>T (p.(Arg137Cys)), PLXNA3(NM_017514.4):c.409C>T (p.R137C) - PLXNA3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.409C>T r.(?) p.(Arg137Cys) - VUS g.153688932C>T - PLXNA3(NM_017514.3):c.409C>T (p.(Arg137Cys)), PLXNA3(NM_017514.4):c.409C>T (p.R137C) - PLXNA3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.444C>T r.(?) p.(Pro148=) - likely benign g.153688967C>T - PLXNA3(NM_017514.4):c.444C>T (p.P148=) - PLXNA3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.513C>T r.(?) p.(Val171=) - likely benign g.153689036C>T - PLXNA3(NM_017514.4):c.513C>T (p.V171=) - PLXNA3_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.673T>C r.(?) p.(Tyr225His) - VUS g.153689517T>C - PLXNA3(NM_017514.4):c.673T>C (p.Y225H) - PLXNA3_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.685G>A r.(?) p.(Gly229Ser) - likely benign g.153689529G>A g.154461189G>A PLXNA3(NM_017514.4):c.685G>A (p.G229S) - PLXNA3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.720G>A r.(?) p.(Thr240=) - likely benign g.153689564G>A - PLXNA3(NM_017514.4):c.720G>A (p.T240=) - PLXNA3_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.734C>T r.(?) p.(Thr245Ile) - VUS g.153689578C>T g.154461238C>T PLXNA3(NM_017514.4):c.734C>T (p.T245I) - PLXNA3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.825C>T r.(?) p.(Tyr275=) - likely benign g.153689669C>T - PLXNA3(NM_017514.4):c.825C>T (p.Y275=) - PLXNA3_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.836C>G r.(?) p.(Pro279Arg) - VUS g.153689680C>G g.154461340C>G PLXNA3(NM_017514.4):c.836C>G (p.P279R) - PLXNA3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.869G>A r.(?) p.(Arg290His) - VUS g.153689713G>A - PLXNA3(NM_017514.4):c.869G>A (p.R290H) - PLXNA3_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.933G>A r.(=) p.(=) - likely benign g.153689777G>A g.154461437G>A P311P - PLXNA3_000026 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
-?/. - c.933G>A r.(?) p.(Pro311=) - likely benign g.153689777G>A g.154461437G>A PLXNA3(NM_017514.4):c.933G>A (p.P311=) - PLXNA3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.958A>G r.(?) p.(Ile320Val) - likely benign g.153689802A>G g.154461462A>G PLXNA3(NM_017514.4):c.958A>G (p.I320V) - PLXNA3_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.982C>T r.(?) p.(Arg328Trp) - VUS g.153689826C>T - PLXNA3(NM_017514.4):c.982C>T (p.R328W) - PLXNA3_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.984G>A r.(?) p.(Arg328=) - likely benign g.153689828G>A g.154461488G>A PLXNA3(NM_017514.4):c.984G>A (p.R328=) - PLXNA3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.997C>T r.(?) p.(Arg333Trp) - VUS g.153689841C>T g.154461501C>T PLXNA3(NM_017514.4):c.997C>T (p.R333W) - PLXNA3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.998G>A r.(?) p.(Arg333Gln) - VUS g.153689842G>A g.154461502G>A PLXNA3(NM_017514.3):c.998G>A (p.(Arg333Gln)), PLXNA3(NM_017514.4):c.998G>A (p.R333Q) - PLXNA3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.998G>A r.(?) p.(Arg333Gln) - likely benign g.153689842G>A g.154461502G>A PLXNA3(NM_017514.3):c.998G>A (p.(Arg333Gln)), PLXNA3(NM_017514.4):c.998G>A (p.R333Q) - PLXNA3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1039G>A r.(?) p.(Ala347Thr) - likely benign g.153689883G>A g.154461543G>A PLXNA3(NM_017514.4):c.1039G>A (p.A347T) - PLXNA3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1098C>T r.(?) p.(Pro366=) - likely benign g.153689942C>T - PLXNA3(NM_017514.4):c.1098C>T (p.P366=) - PLXNA3_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1138A>G r.(?) p.(Met380Val) - likely benign g.153690471A>G g.154462131A>G PLXNA3(NM_017514.4):c.1138A>G (p.M380V) - PLXNA3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1167G>A r.(=) p.(=) - likely benign g.153690500G>A g.154462160G>A L389L - PLXNA3_000027 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
-?/. - c.1167G>A r.(?) p.(Leu389=) - likely benign g.153690500G>A g.154462160G>A PLXNA3(NM_017514.4):c.1167G>A (p.L389=) - PLXNA3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1234G>A r.(?) p.(Asp412Asn) - likely benign g.153690567G>A g.154462227G>A PLXNA3(NM_017514.4):c.1234G>A (p.D412N) - PLXNA3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1237G>A r.(?) p.(Gly413Ser) - benign g.153690570G>A g.154462230G>A PLXNA3(NM_017514.4):c.1237G>A (p.G413S) - PLXNA3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1254C>T r.(?) p.(Ala418=) - likely benign g.153690587C>T - PLXNA3(NM_017514.4):c.1254C>T (p.A418=) - PLXNA3_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1255G>A r.(?) p.(Ala419Thr) - benign g.153690588G>A g.154462248G>A PLXNA3(NM_017514.4):c.1255G>A (p.A419T) - PLXNA3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1259A>G r.(?) p.(Tyr420Cys) - VUS g.153690592A>G g.154462252A>G PLXNA3(NM_017514.4):c.1259A>G (p.Y420C) - PLXNA3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1268G>A r.(?) p.(Arg423His) - likely benign g.153690601G>A g.154462261G>A PLXNA3(NM_017514.4):c.1268G>A (p.R423H) - PLXNA3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1284C>T r.(?) p.(Val428=) - likely benign g.153690617C>T - PLXNA3(NM_017514.4):c.1284C>T (p.V428=) - PLXNA3_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1296G>A r.(?) p.(Thr432=) - likely benign g.153690629G>A g.154462289G>A PLXNA3(NM_017514.4):c.1296G>A (p.T432=) - PLXNA3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1298G>A r.(?) p.(Arg433His) - likely benign g.153690631G>A g.154462291G>A PLXNA3(NM_017514.3):c.1298G>A (p.(Arg433His)) - PLXNA3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1298G>A r.(?) p.(Arg433His) - VUS g.153690631G>A g.154462291G>A - - PLXNA3_000008 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - Lucy Raymond
-?/. - c.1298G>A r.(?) p.(Arg433His) - likely benign g.153690631G>A g.154462291G>A - - PLXNA3_000008 - PubMed: Papuc 2019 - rs141197316 Germline - - - 0 - Anaïs Begemann
?/. - c.1314G>C r.(?) p.(Lys438Asn) - VUS g.153690647G>C - PLXNA3(NM_017514.4):c.1314G>C (p.K438N) - PLXNA3_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1322G>A r.(?) p.(Arg441Gln) - VUS g.153691738G>A g.154463395G>A PLXNA3(NM_017514.3):c.1322G>A (p.(Arg441Gln)), PLXNA3(NM_017514.4):c.1322G>A (p.R441Q) - PLXNA3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1322G>A r.(?) p.(Arg441Gln) - VUS g.153691738G>A g.154463395G>A PLXNA3(NM_017514.3):c.1322G>A (p.(Arg441Gln)), PLXNA3(NM_017514.4):c.1322G>A (p.R441Q) - PLXNA3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1362C>G r.(?) p.(Val454=) - likely benign g.153691778C>G - PLXNA3(NM_017514.4):c.1362C>G (p.V454=) - PLXNA3_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1461G>A r.(?) p.(Pro487=) - likely benign g.153691947G>A - PLXNA3(NM_017514.4):c.1461G>A (p.P487=) - PLXNA3_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1468A>T r.(?) p.(Thr490Ser) - likely benign g.153691954A>T g.154463611A>T PLXNA3(NM_017514.3):c.1468A>T (p.(Thr490Ser)) - PLXNA3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1510G>A r.(?) p.(Gly504Arg) - likely benign g.153691996G>A g.154463653G>A PLXNA3(NM_017514.3):c.1510G>A (p.(Gly504Arg)) - PLXNA3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1512G>C r.(?) p.(Gly504=) - likely benign g.153691998G>C - PLXNA3(NM_017514.4):c.1512G>C (p.G504=) - PLXNA3_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1547+13del r.(=) p.(=) - likely benign g.153692046del - PLXNA3(NM_017514.4):c.1547+9delG - PLXNA3_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1557C>A r.(?) p.(Arg519=) - VUS g.153692303C>A g.154463960C>A PLXNA3(NM_017514.4):c.1557C>A (p.R519=) - PLXNA3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1627C>T r.(?) p.(Arg543Trp) - VUS g.153692373C>T - PLXNA3(NM_017514.4):c.1627C>T (p.R543W) - PLXNA3_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1628G>A r.(?) p.(Arg543Gln) - VUS g.153692374G>A g.154464031G>A PLXNA3(NM_017514.3):c.1628G>A (p.(Arg543Gln)), PLXNA3(NM_017514.4):c.1628G>A (p.R543Q) - PLXNA3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1628G>A r.(?) p.(Arg543Gln) - likely benign g.153692374G>A - PLXNA3(NM_017514.3):c.1628G>A (p.(Arg543Gln)), PLXNA3(NM_017514.4):c.1628G>A (p.R543Q) - PLXNA3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1639A>G r.(?) p.(Asn547Asp) - likely benign g.153692385A>G g.154464042A>G PLXNA3(NM_017514.4):c.1639A>G (p.N547D) - PLXNA3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1656G>A r.(?) p.(Thr552=) - likely benign g.153692402G>A g.154464059G>A PLXNA3(NM_017514.4):c.1656G>A (p.T552=) - PLXNA3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1695G>A r.(?) p.(Val565=) - likely benign g.153692523G>A - PLXNA3(NM_017514.4):c.1695G>A (p.V565=) - PLXNA3_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1729G>A r.(?) p.(Glu577Lys) - VUS g.153692557G>A - PLXNA3(NM_017514.4):c.1729G>A (p.E577K) - PLXNA3_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1752G>A r.(?) p.(Ala584=) - likely benign g.153692580G>A - PLXNA3(NM_017514.4):c.1752G>A (p.A584=) - PLXNA3_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1767C>T r.(?) p.(Ser589=) - likely benign g.153692595C>T - PLXNA3(NM_017514.4):c.1767C>T (p.S589=) - PLXNA3_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1773A>T r.(?) p.(Glu591Asp) - likely benign g.153692601A>T g.154464258A>T PLXNA3(NM_017514.4):c.1773A>T (p.E591D) - PLXNA3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1828+7G>A r.(=) p.(=) - VUS g.153692663G>A - PLXNA3(NM_017514.4):c.1828+7G>A - PLXNA3_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1918G>A r.(?) p.(Val640Ile) - likely benign g.153692834G>A g.154464491G>A PLXNA3(NM_017514.4):c.1918G>A (p.V640I) - PLXNA3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1926G>C r.(?) p.(Gln642His) - likely benign g.153692842G>C g.154464499G>C PLXNA3(NM_017514.4):c.1926G>C (p.Q642H) - PLXNA3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1958C>T r.(?) p.(Pro653Leu) - VUS g.153693126C>T g.154464783C>T PLXNA3(NM_017514.3):c.1958C>T (p.(Pro653Leu)), PLXNA3(NM_017514.4):c.1958C>T (p.P653L) - PLXNA3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.1958C>T r.(?) p.(Pro653Leu) - benign g.153693126C>T g.154464783C>T PLXNA3(NM_017514.3):c.1958C>T (p.(Pro653Leu)), PLXNA3(NM_017514.4):c.1958C>T (p.P653L) - PLXNA3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1996C>T r.(?) p.(Arg666Cys) - VUS g.153693164C>T g.154464821C>T PLXNA3(NM_017514.4):c.1996C>T (p.R666C) - PLXNA3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2002C>G r.(?) p.(His668Asp) - likely benign g.153693170C>G - PLXNA3(NM_017514.4):c.2002C>G (p.H668D) - PLXNA3_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2170C>T r.(?) p.(Arg724Trp) - VUS g.153693487C>T g.154465144C>T PLXNA3(NM_017514.4):c.2170C>T (p.R724W) - PLXNA3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2171G>A r.(?) p.(Arg724Gln) - likely benign g.153693488G>A - PLXNA3(NM_017514.4):c.2171G>A (p.R724Q) - PLXNA3_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2192G>A r.(?) p.(Arg731Gln) - VUS g.153693509G>A - PLXNA3(NM_017514.4):c.2192G>A (p.R731Q) - PLXNA3_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2289C>T r.(=) p.(=) - likely benign g.153693811C>T g.154465468= F763F - PLXNA3_000028 recurrent, found 10 times PubMed: Tarpey 2009 - - Germline - 10/208 cases - 0 - Lucy Raymond
?/. - c.2363C>T r.(?) p.(Ala788Val) - VUS g.153694021C>T - PLXNA3(NM_017514.4):c.2363C>T (p.A788V) - PLXNA3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.2448G>A r.(?) p.(Leu816=) - likely benign g.153694106G>A - PLXNA3(NM_017514.4):c.2448G>A (p.L816=) - PLXNA3_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2469G>A r.(?) p.(Pro823=) - likely benign g.153694127G>A - PLXNA3(NM_017514.4):c.2469G>A (p.P823=) - PLXNA3_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2589C>G r.(?) p.(Asp863Glu) - VUS g.153694334C>G g.154465991= - - PLXNA3_000029 recurrent, found 9 times PubMed: Tarpey 2009 - - Germline - 9/208 cases - 0 - Lucy Raymond
-?/. - c.2620C>T r.(?) p.(Leu874=) - likely benign g.153694365C>T - PLXNA3(NM_017514.4):c.2620C>T (p.L874=) - PLXNA3_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2721G>C r.(?) p.(Pro907=) - likely benign g.153694535G>C g.154466192G>C PLXNA3(NM_017514.4):c.2721G>C (p.P907=) - PLXNA3_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2751C>T r.(?) p.(Asp917=) - likely benign g.153694565C>T g.154466222C>T PLXNA3(NM_017514.4):c.2751C>T (p.D917=) - PLXNA3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2807C>T r.(?) p.(Thr936Met) - likely benign g.153694726C>T g.154466383C>T PLXNA3(NM_017514.4):c.2807C>T (p.T936M) - PLXNA3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2808G>A r.(?) p.(Thr936=) - likely benign g.153694727G>A - PLXNA3(NM_017514.4):c.2808G>A (p.T936=) - PLXNA3_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2855G>A r.(?) p.(Arg952Gln) - VUS g.153694774G>A g.154466431G>A PLXNA3(NM_017514.3):c.2855G>A (p.(Arg952Gln)), PLXNA3(NM_017514.4):c.2855G>A (p.R952Q) - PLXNA3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2855G>A r.(?) p.(Arg952Gln) - likely benign g.153694774G>A g.154466431G>A PLXNA3(NM_017514.3):c.2855G>A (p.(Arg952Gln)), PLXNA3(NM_017514.4):c.2855G>A (p.R952Q) - PLXNA3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2900C>G r.(?) p.(Thr967Arg) - likely benign g.153694819C>G - PLXNA3(NM_017514.4):c.2900C>G (p.T967R) - PLXNA3_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2901A>G r.(=) p.(=) - likely benign g.153694820A>G g.154466477A>G T967T - PLXNA3_000030 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
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