Unique variants in the SRPX2 gene

Information The variants shown are described using the NM_014467.2 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
Legend   How to query  

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.-399G>C r.(?) p.(=) - VUS g.99899244G>C g.100644247G>C - - SRPX2_000001 - - - - Germline - - - - - Yu Sun
?/. 2 - c.82+318_82+319del r.(=) p.(=) - VUS g.99901719_99901720del g.100646722_100646723del - - SRPX2_000017 - - - - Germline - - - - - Yu Sun
?/. 1 - c.82+320_82+321del r.(=) p.(=) - VUS g.99901721_99901722del g.100646724_100646725del - - SRPX2_000006 - - - - Germline - - - - - Yu Sun
-?/., ?/. 2 - c.98C>T r.(?) p.(Pro33Leu) - likely benign, VUS g.99905797C>T g.100650800C>T SRPX2(NM_014467.2):c.98C>T (p.P33L, p.(Pro33Leu)) - SRPX2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.163G>C r.(?) p.(Val55Leu) - VUS g.99905862G>C g.100650865G>C SRPX2(NM_014467.2):c.163G>C (p.V55L) - SRPX2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.163+12T>C r.(=) p.(=) - benign g.99905874T>C g.100650877T>C SRPX2(NM_014467.2):c.163+12T>C - SRPX2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.163+36T>G r.(=) p.(=) - likely benign g.99905898T>G g.100650901T>G SRPX2(NM_014467.2):c.163+36T>G - SRPX2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 2 - c.163+343G>A r.(=) p.(=) - VUS g.99906205G>A g.100651208G>A - - SRPX2_000007 - - - - Germline - - - - - Yu Sun
?/. 1 - c.196G>T r.(?) p.(Asp66Tyr) - VUS g.99917205G>T g.100662208G>T SRPX2(NM_014467.2):c.196G>T (p.D66Y) - SRPX2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.205G>A r.(?) p.(Ala69Thr) - VUS g.99917214G>A g.100662217G>A - - SRPX2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/? 1 - c.215A>C r.(?) p.(Tyr72Ser) - likely pathogenic g.99917224A>C g.100662227A>C - - SRPX2_000060 {PMID:Roll 2006:16497722} - - - Germline - - - - - Johan den Dunnen
-?/. 2 - c.257G>A r.(?) p.(Arg86His) - likely benign g.99917266G>A g.100662269G>A SRPX2(NM_014467.2):c.257G>A (p.R86H, p.(Arg86His)) - SRPX2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.278G>A r.(?) p.(Arg93Gln) - likely benign g.99917287G>A g.100662290G>A SRPX2(NM_014467.2):c.278G>A (p.(Arg93Gln)) - SRPX2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.323G>A r.(?) p.(Ser108Asn) - likely benign g.99917332G>A g.100662335G>A SRPX2(NM_014467.2):c.323G>A (p.S108N) - SRPX2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.326G>T r.(?) p.(Arg109Leu) - likely pathogenic (dominant) g.99917335G>T g.100662338G>T - - SRPX2_000056 - - - - Germline yes - - - - Pietro Palumbo
?/. 1 - c.329G>A r.(?) p.(Arg110His) - VUS g.99917338G>A g.100662341G>A - - SRPX2_000048 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.355+10G>A r.(=) p.(=) - likely benign g.99917374G>A - SRPX2(NM_014467.2):c.355+10G>A - SRPX2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.356-38G>A r.(=) p.(=) - VUS g.99919733G>A g.100664736G>A - - SRPX2_000009 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.369C>T r.(?) p.(His123=) - likely benign g.99919784C>T - SRPX2(NM_014467.2):c.369C>T (p.H123=) - SRPX2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.449C>T r.(?) p.(Ser150Phe) - likely benign g.99919864C>T g.100664867C>T SRPX2(NM_014467.2):c.449C>T (p.S150F) - SRPX2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 2 - c.481C>A r.(?) p.(Arg161=) - likely benign g.99919896C>A g.100664899C>A SRPX2(NM_014467.2):c.481C>A (p.R161=) - SRPX2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.533-30G>A r.(=) p.(=) - likely benign g.99920210G>A g.100665213G>A SRPX2(NM_014467.2):c.533-30G>A - SRPX2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/., ?/. 2 - c.574A>C r.(?) p.(Lys192Gln) - likely benign, VUS g.99920281A>C g.100665284A>C SRPX2(NM_014467.2):c.574A>C (p.K192Q) - SRPX2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 - c.602del r.(?) p.(Ala201Valfs*10) - VUS g.99920309del g.100665312del - - SRPX2_000059 variant most likely inherited from asymptomatic maternal grandfather (not available) PubMed: Redin 2014 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.605G>A r.(?) p.(Arg202Gln) - likely benign g.99920312G>A g.100665315G>A SRPX2(NM_014467.2):c.605G>A (p.R202Q) - SRPX2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.624G>A r.(?) p.(Pro208=) - likely benign g.99920331G>A g.100665334G>A SRPX2(NM_014467.2):c.624G>A (p.P208=) - SRPX2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.648T>C r.(?) p.(Gly216=) - likely benign g.99920355T>C g.100665358T>C SRPX2(NM_014467.2):c.648T>C (p.G216=) - SRPX2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ./. 2 - c.671G>A r.(?) p.(Arg224Gln) - likely benign, pathogenic g.99920544G>A g.100665547G>A SRPX2(NM_014467.2):c.671G>A (p.R224Q) - SRPX2_000019 VKGL data sharing initiative Nederland PubMed: DDDS 2015, Journal: DDDS 2015 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Utrecht
-?/. 2 - c.693C>A r.(?) p.(His231Gln) - likely benign g.99920566C>A g.100665569C>A SRPX2(NM_014467.2):c.693C>A (p.H231Q) - SRPX2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.723C>T r.(?) p.(Tyr241=) - likely benign g.99920596C>T g.100665599C>T SRPX2(NM_014467.2):c.723C>T (p.Y241=) - SRPX2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.781+321G>A r.(=) p.(=) - VUS g.99920975G>A g.100665978G>A - - SRPX2_000012 - - - - Germline - - - - - Yu Sun
?/. 1 - c.782-366A>G r.(=) p.(=) - VUS g.99921385A>G g.100666388A>G - - SRPX2_000013 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.809C>T r.(?) p.(Pro270Leu) - likely benign g.99921778C>T - SRPX2(NM_014467.2):c.809C>T (p.P270L) - SRPX2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.840G>A r.(?) p.(Ala280=) - likely benign g.99921809G>A - SRPX2(NM_014467.2):c.840G>A (p.A280=) - SRPX2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.918T>C r.(?) p.(Cys306=) - likely benign g.99921887T>C - SRPX2(NM_014467.2):c.918T>C (p.C306=) - SRPX2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/-?, -?/. 5 - c.980A>G r.(?) p.(Asn327Ser) - likely benign, pathogenic (!) g.99922289A>G g.100667292A>G Asn327Ser, SRPX2(NM_014467.2):c.980A>G (p.(Asn327Ser), p.N327S) - SRPX2_000018 not in 554 control chromosomes; later publication questions pathogenicity, true variant in GRIN2A, 1 more item PubMed: Roll 2006, PubMed: Slavotinek 2015, Journal: Slavotinek 2015 - - CLASSIFICATION record, Germline, Unknown yes - - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 - c.981C>G r.(?) p.(Asn327Lys) - VUS g.99922290C>G g.100667293C>G SRPX2(NM_014467.2):c.981C>G (p.N327K) - SRPX2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/., ?/. 3 - c.1030C>A r.(?) p.(Leu344Ile) - likely benign, VUS g.99922339C>A g.100667342C>A SRPX2(NM_014467.2):c.1030C>A (p.L344I, p.(Leu344Ile)) - SRPX2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.1039A>C r.(?) p.(Ile347Leu) - likely benign g.99922348A>C g.100667351A>C SRPX2(NM_014467.2):c.1039A>C (p.I347L) - SRPX2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1064G>A r.(?) p.(Arg355Gln) - likely benign g.99922373G>A g.100667376G>A SRPX2(NM_014467.2):c.1064G>A (p.R355Q) - SRPX2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1095+165C>T r.(=) p.(=) - likely benign g.99922569C>T g.100667572C>T SRPX2(NM_014467.2):c.1095+165C>T - SRPX2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1096-119T>C r.(=) p.(=) - benign g.99924126T>C g.100669129T>C SRPX2(NM_014467.2):c.1096-119T>C - SRPX2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1129A>T r.(?) p.(Thr377Ser) - likely benign g.99924278A>T g.100669281A>T SRPX2(NM_014467.2):c.1129A>T (p.T377S) - SRPX2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1205T>C r.(?) p.(Ile402Thr) - VUS g.99924354T>C g.100669357T>C SRPX2(NM_014467.2):c.1205T>C (p.I402T) - SRPX2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1217+12G>A r.(=) p.(=) - likely benign g.99924378G>A g.100669381G>A SRPX2(NM_014467.2):c.1217+12G>A - SRPX2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1217+33A>G r.(=) p.(=) - likely benign g.99924399A>G g.100669402A>G SRPX2(NM_014467.2):c.1217+33A>G - SRPX2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1217+35G>C r.(=) p.(=) - likely benign g.99924401G>C g.100669404G>C SRPX2(NM_014467.2):c.1217+35G>C - SRPX2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1217+42T>G r.(=) p.(=) - likely benign g.99924408T>G g.100669411T>G SRPX2(NM_014467.2):c.1217+42T>G - SRPX2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1228C>T r.(?) p.(Arg410Cys) - VUS g.99925814C>T g.100670817C>T SRPX2(NM_014467.2):c.1228C>T (p.(Arg410Cys)) - SRPX2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 2 - c.1237C>T r.(?) p.(Arg413Cys) - likely benign, VUS g.99925823C>T g.100670826C>T SRPX2(NM_014467.2):c.1237C>T (p.R413C, p.(Arg413Cys)) - SRPX2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.1283G>A r.(?) p.(Arg428Gln) - VUS g.99925869G>A g.100670872G>A SRPX2(NM_014467.2):c.1283G>A (p.R428Q) - SRPX2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1293C>T r.(?) p.(Tyr431=) - likely benign g.99925879C>T g.100670882C>T SRPX2(NM_014467.2):c.1293C>T (p.Y431=) - SRPX2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1373G>A r.(?) p.(Arg458Gln) - likely benign g.99925959G>A - SRPX2(NM_014467.2):c.1373G>A (p.R458Q) - SRPX2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*60G>A r.(=) p.(=) - likely benign g.99926044G>A g.100671047G>A SRPX2(NM_014467.2):c.*60G>A - SRPX2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 2 - c.*138G>A - p.(=) - VUS g.99926122G>A g.100671125G>A - - SRPX2_000014 1 more item - - - Germline - - - - - Yu Sun
-?/. 1 - c.*5119C>T r.(=) p.(=) - likely benign g.99931103C>T g.100676106C>T SYTL4(NM_001129896.2):c.1938G>A (p.(Met646Ile)) - SYTL4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
Legend   How to query