Full data view for gene HIVEP2

Information The variants shown are described using the NM_006734.3 transcript reference sequence.

99 entries on 1 page. Showing entries 1 - 99.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-527-1516G>A r.(=) p.(=) Unknown - likely benign g.143106268C>T - HIVEP2(NM_006734.4):c.-527-1516G>A - HIVEP2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2T>C r.(?) p.? Unknown - likely benign g.143095874A>G - HIVEP2(NM_006734.3):c.2T>C (p.M1?) - HIVEP2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.105G>C r.(?) p.(Lys35Asn) Unknown - VUS g.143095771C>G - HIVEP2(NM_006734.3):c.105G>C (p.(Lys35Asn)) - HIVEP2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.166G>A r.(?) p.(Gly56Arg) Unknown - likely benign g.143095710C>T - HIVEP2(NM_006734.3):c.166G>A (p.(Gly56Arg)), HIVEP2(NM_006734.4):c.166G>A (p.G56R) - HIVEP2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.166G>A r.(?) p.(Gly56Arg) Unknown - likely benign g.143095710C>T - HIVEP2(NM_006734.3):c.166G>A (p.(Gly56Arg)), HIVEP2(NM_006734.4):c.166G>A (p.G56R) - HIVEP2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194G>T r.(?) p.(Gly65Val) Unknown - likely benign g.143095682C>A - HIVEP2(NM_006734.4):c.194G>T (p.G65V) - HIVEP2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.212C>T r.(?) p.(Ser71Phe) Unknown - likely benign g.143095664G>A - HIVEP2(NM_006734.3):c.212C>T (p.(Ser71Phe)) - HIVEP2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.258G>A r.(?) p.(Pro86=) Unknown - likely benign g.143095618C>T g.142774481C>T HIVEP2(NM_006734.3):c.258G>A (p.P86=) - HIVEP2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.260A>T r.(?) p.(His87Leu) Unknown - likely benign g.143095616T>A - HIVEP2(NM_006734.4):c.260A>T (p.(His87Leu)) - HIVEP2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.312A>G r.(?) p.(Ser104=) Unknown - likely benign g.143095564T>C g.142774427T>C HIVEP2(NM_006734.3):c.312A>G (p.S104=) - HIVEP2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.404C>G r.(?) p.(Ser135Cys) Unknown - likely benign g.143095472G>C - HIVEP2(NM_006734.4):c.404C>G (p.S135C) - HIVEP2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.406G>A r.(?) p.(Glu136Lys) Unknown - VUS g.143095470C>T - HIVEP2(NM_006734.3):c.406G>A (p.(Glu136Lys)) - HIVEP2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.618dup r.(?) p.(His207Thrfs*38) Unknown - pathogenic g.143095263dup - - - HIVEP2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.776A>G r.(?) p.(Asp259Gly) Unknown - VUS g.143095100T>C g.142773963T>C HIVEP2(NM_006734.3):c.776A>G (p.D259G) - HIVEP2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.967A>G r.(?) p.(Met323Val) Unknown - VUS g.143094909T>C g.142773772T>C HIVEP2(NM_006734.3):c.967A>G (p.(Met323Val)) - HIVEP2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1033A>G r.(?) p.(Ile345Val) Unknown - likely benign g.143094843T>C g.142773706T>C HIVEP2(NM_006734.4):c.1033A>G (p.I345V) - HIVEP2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1085C>T r.(?) p.(Ser362Leu) Unknown - likely benign g.143094791G>A - HIVEP2(NM_006734.4):c.1085C>T (p.(Ser362Leu)) - HIVEP2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1170G>A r.(?) p.(Pro390=) Unknown - likely benign g.143094706C>T g.142773569C>T HIVEP2(NM_006734.3):c.1170G>A (p.P390=) - HIVEP2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1171C>T r.(?) p.(His391Tyr) Unknown - likely benign g.143094705G>A g.142773568G>A - - HIVEP2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1195G>C r.(?) p.(Gly399Arg) Unknown - likely pathogenic g.143094681C>G - HIVEP2(NM_006734.4):c.1195G>C (p.G399R) - HIVEP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1213G>A r.(?) p.(Glu405Lys) Unknown - likely pathogenic g.143094663C>T g.142773526C>T - - HIVEP2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1308T>C r.(?) p.(Asn436=) Unknown - likely benign g.143094568A>G - HIVEP2(NM_006734.3):c.1308T>C (p.N436=) - HIVEP2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1340G>A r.(?) p.(Arg447His) Unknown - likely benign g.143094536C>T - HIVEP2(NM_006734.3):c.1340G>A (p.R447H) - HIVEP2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1456G>A r.(?) p.(Asp486Asn) Unknown - likely benign g.143094420C>T - HIVEP2(NM_006734.3):c.1456G>A (p.(Asp486Asn)) - HIVEP2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1603G>A r.(?) p.(Val535Ile) Unknown - likely benign g.143094273C>T g.142773136C>T HIVEP2(NM_006734.3):c.1603G>A (p.(Val535Ile)) - HIVEP2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1733A>T r.(?) p.(Tyr578Phe) Unknown - VUS g.143094143T>A - - - HIVEP2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1762C>T r.(1762C>T) p.(Arg588Cys) Unknown ACMG likely pathogenic g.143094114G>A g.142772977G>A - - HIVEP2_000091 - - ClinVar-3387774 rs774619626 De novo - - - - - DNA SEQ-NG-I peripheral blood CES NDD - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
?/. - c.2099A>T r.(?) p.(Glu700Val) Unknown - VUS g.143093777T>A - HIVEP2(NM_006734.3):c.2099A>T (p.(Glu700Val)) - HIVEP2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2156C>T r.(?) p.(Thr719Ile) Unknown - VUS g.143093720G>A - HIVEP2(NM_006734.3):c.2156C>T (p.(Thr719Ile)) - HIVEP2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2179G>A r.(?) p.(Asp727Asn) Unknown - likely benign g.143093697C>T - HIVEP2(NM_006734.4):c.2179G>A (p.D727N) - HIVEP2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2306G>T r.(?) p.(Ser769Ile) Unknown - likely benign g.143093570C>A - HIVEP2(NM_006734.3):c.2306G>T (p.(Ser769Ile)) - HIVEP2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2447G>A r.(?) p.(Arg816Lys) Unknown - VUS g.143093429C>T - HIVEP2(NM_006734.4):c.2447G>A (p.R816K) - HIVEP2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2533C>T r.(?) p.(Pro845Ser) Unknown - likely benign g.143093343G>A g.142772206G>A HIVEP2(NM_006734.3):c.2533C>T (p.P845S) - HIVEP2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2605G>A r.(?) p.(Val869Met) Unknown - likely benign g.143093271C>T - HIVEP2(NM_006734.4):c.2605G>A (p.(Val869Met)) - HIVEP2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2683G>A r.(?) p.(Glu895Lys) Unknown - VUS g.143093193C>T - HIVEP2(NM_006734.3):c.2683G>A (p.(Glu895Lys)) - HIVEP2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2724C>T r.(?) p.(Ser908=) Unknown - likely benign g.143093152G>A - HIVEP2(NM_006734.3):c.2724C>T (p.S908=) - HIVEP2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2784C>G r.(?) p.(Ser928=) Unknown - likely benign g.143093092G>C g.142771955G>C HIVEP2(NM_006734.3):c.2784C>G (p.S928=) - HIVEP2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2827C>T r.(?) p.(Arg943*) Unknown - likely pathogenic (dominant) g.143093049G>A g.142771912G>A - - HIVEP2_000004 - PubMed: Srivastava 2016 - - De novo - - - - - DNA SEQ-NG - - ? Pat1 PubMed: Srivastava 2016 2-generation family, 1 affected, unaffected non-carrier parents F no - white - - - - 1 Siddharth Srivastava
+/. - c.2827C>T r.? p.(Arg943*) Unknown ACMG pathogenic (dominant) g.143093049G>A - - - HIVEP2_000004 ACMG: PVS1, PS2, PS4_MOD, PM2_SUP PMID: 26153216 VCV000224791.12 - De novo ? - - - - DNA SEQ-NG-I - - MRD 186648 - - F no Germany - - - - - 1 Andreas Laner
+/. - c.2968_2971del r.(?) p.(Lys990PhefsTer17) Unknown - pathogenic (dominant) g.143092905_143092908del g.142771768_142771771del - - HIVEP2_000093 - PubMed: Boissel 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 051-039-KUY PubMed: Boissel 2017 analysis 101 stillborn fetuses with severe prenatal anoalies - - Canada - 0d - - - 1 Johan den Dunnen
?/. - c.3002G>A r.(?) p.(Gly1001Glu) Unknown - VUS g.143092874C>T - HIVEP2(NM_006734.4):c.3002G>A (p.G1001E) - HIVEP2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3067C>T r.(?) p.(His1023Tyr) Unknown ACMG likely pathogenic (dominant) g.143092809G>A g.142771672G>A - - HIVEP2_000066 ACMG PM1,PM2,PP3,PP4 PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES epilepsy Pat53 PubMed: Chuan 2022 - M - China - - - - - 1 Johan den Dunnen
-?/. 5 c.3193G>A r.(?) p.(Ala1065Thr) Unknown - likely benign g.143092683C>T g.142771546C>T - - HIVEP2_000001 - PubMed: Gilissen 2014 - - De novo - - - - - DNA SEQ - - ID - PubMed: Gilissen 2014 - ? ? - - - - - - 1 Marianne Vos (LOVD-team)
?/. - c.3193G>A r.(?) p.(Ala1065Thr) Unknown - VUS g.143092683C>T g.142771546C>T - - HIVEP2_000001 variant not associated with henotype PubMed: Devanna 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS ID Pat1 PubMed: Devanna 2018 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - 1 Johan den Dunnen
-?/. - c.3194C>T r.(?) p.(Ala1065Val) Unknown - likely benign g.143092682G>A - HIVEP2(NM_006734.3):c.3194C>T (p.(Ala1065Val)) - HIVEP2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3368C>T r.(?) p.(Pro1123Leu) Unknown - VUS g.143092508G>A - HIVEP2(NM_006734.4):c.3368C>T (p.P1123L) - HIVEP2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3383C>T r.(?) p.(Pro1128Leu) Unknown - likely benign g.143092493G>A - HIVEP2(NM_006734.3):c.3383C>T (p.(Pro1128Leu)) - HIVEP2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3412C>T r.(?) p.(Gln1138Ter) Unknown - likely pathogenic g.143092464G>A g.142771327G>A HIVEP2(NM_006734.3):c.3412C>T (p.Q1138*) - HIVEP2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3434del r.(?) p.(Pro1145ArgfsTer2) Unknown - likely pathogenic g.143092446del g.142771309del HIVEP2(NM_006734.3):c.3434delC (p.P1145Rfs*2) - HIVEP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3444G>C r.(?) p.(Ser1148=) Unknown - benign g.143092432C>G g.142771295C>G HIVEP2(NM_006734.3):c.3444G>C (p.S1148=) - HIVEP2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3556C>T r.(?) p.(Gln1186*) Unknown - likely pathogenic (dominant) g.143092320G>A g.142771183G>A - - HIVEP2_000003 - PubMed: Srivastava 2016 - - De novo - - - - - DNA SEQ-NG - - ? Pat2 PubMed: Srivastava 2016 2-generation family, 1 affected, unaffected non-carrier parents M no Germany - - - - - 1 Siddharth Srivastava
-?/. - c.3659C>T r.(?) p.(Ala1220Val) Unknown - likely benign g.143092217G>A - HIVEP2(NM_006734.3):c.3659C>T (p.(Ala1220Val)) - HIVEP2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3957C>G r.(?) p.(Ala1319=) Unknown - likely benign g.143091919G>C g.142770782G>C HIVEP2(NM_006734.3):c.3957C>G (p.A1319=) - HIVEP2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4023C>G r.(?) p.(His1341Gln) Unknown - VUS g.143091853G>C - HIVEP2(NM_006734.3):c.4023C>G (p.(His1341Gln)) - HIVEP2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4079del r.(?) p.(Asn1360Ilefs*14) Unknown - VUS g.143091798del - HIVEP2(NM_006734.4):c.4079del (p.(Asn1360Ilefs*14)) - HIVEP2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4107C>T r.(?) p.(Val1369=) Unknown - benign g.143091769G>A g.142770632G>A HIVEP2(NM_006734.4):c.4107C>T (p.V1369=) - HIVEP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4140C>T r.(?) p.(Thr1380=) Unknown - benign g.143091736G>A g.142770599G>A HIVEP2(NM_006734.3):c.4140C>T (p.T1380=) - HIVEP2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4254A>C r.(?) p.(Glu1418Asp) Unknown - likely benign g.143091622T>G - HIVEP2(NM_006734.3):c.4254A>C (p.(Glu1418Asp)) - HIVEP2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4485G>A r.(?) p.(Leu1495=) Unknown - likely benign g.143091391C>T - HIVEP2(NM_006734.3):c.4485G>A (p.L1495=) - HIVEP2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4487T>A r.(?) p.(Val1496Asp) Unknown - VUS g.143091389A>T - HIVEP2(NM_006734.4):c.4487T>A (p.V1496D) - HIVEP2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4613T>C r.(?) p.(Leu1538Pro) Unknown - benign g.143091263A>G g.142770126A>G HIVEP2(NM_006734.4):c.4613T>C (p.L1538P) - HIVEP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4636G>A r.(?) p.(Gly1546Ser) Unknown - likely benign g.143091240C>T - HIVEP2(NM_006734.3):c.4636G>A (p.(Gly1546Ser)) - HIVEP2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4654C>T r.(?) p.(Pro1552Ser) Unknown - likely benign g.143091222G>A g.142770085G>A HIVEP2(NM_006734.3):c.4654C>T (p.P1552S) - HIVEP2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4697C>T r.(?) p.(Ser1566Leu) Unknown - VUS g.143091179G>A - HIVEP2(NM_006734.4):c.4697C>T (p.S1566L) - HIVEP2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4721C>G r.(?) p.(Thr1574Arg) Unknown - VUS g.143091155G>C g.142770018G>C HIVEP2(NM_006734.3):c.4721C>G (p.T1574R) - HIVEP2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4829G>A r.(?) p.(Arg1610His) Unknown - likely benign g.143091047C>T g.142769910C>T HIVEP2(NM_006734.3):c.4829G>A (p.R1610H) - HIVEP2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4850G>C r.(?) p.(Gly1617Ala) Unknown - VUS g.143091026C>G - HIVEP2(NM_006734.4):c.4850G>C (p.G1617A) - HIVEP2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4939G>A r.(?) p.(Val1647Met) Unknown - VUS g.143090937C>T - HIVEP2(NM_006734.3):c.4939G>A (p.(Val1647Met)) - HIVEP2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4943G>A r.(?) p.(Ser1648Asn) Unknown - VUS g.143090933C>T - HIVEP2(NM_006734.4):c.4943G>A (p.S1648N) - HIVEP2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5089A>C r.(?) p.(Lys1697Gln) Unknown - VUS g.143090787T>G - HIVEP2(NM_006734.4):c.5089A>C (p.(Lys1697Gln)) - HIVEP2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5142A>G r.(?) p.(Gly1714=) Unknown - benign g.143090734T>C g.142769597T>C HIVEP2(NM_006734.4):c.5142A>G (p.G1714=) - HIVEP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5225T>G r.(?) p.(Leu1742Arg) Unknown - likely benign g.143089636A>C g.142768499A>C HIVEP2(NM_006734.3):c.5225T>G (p.(Leu1742Arg)) - HIVEP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5225T>G r.(?) p.(Leu1742Arg) Unknown - VUS g.143089636A>C - HIVEP2(NM_006734.3):c.5225T>G (p.(Leu1742Arg)) - HIVEP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5397C>T r.(?) p.(Tyr1799=) Unknown - benign g.143086057G>A g.142764920G>A HIVEP2(NM_006734.3):c.5397C>T (p.Y1799=) - HIVEP2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5460C>A r.(?) p.(Thr1820=) Unknown - likely benign g.143085994G>T - HIVEP2(NM_006734.3):c.5460C>A (p.T1820=) - HIVEP2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5582C>A r.(?) p.(Ser1861Ter) Unknown - pathogenic g.143082639G>T - HIVEP2(NM_006734.4):c.5582C>A (p.S1861*) - HIVEP2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.5737del r.(?) p.(Asp1913Metfs*15) Unknown - likely pathogenic (dominant) g.143081688del g.142760551del 5737delG - HIVEP2_000002 - PubMed: Srivastava 2016 - - De novo - - - - - DNA SEQ-NG - - ? Pat3 PubMed: Srivastava 2016 2-generation family, 1 affected, unaffected non-carrier parents F no Germany - - - - - 1 Siddharth Srivastava
?/. - c.5834C>T r.(?) p.(Ser1945Phe) Unknown - VUS g.143081591G>A - HIVEP2(NM_006734.4):c.5834C>T (p.S1945F) - HIVEP2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5853C>T r.(?) p.(Gly1951=) Unknown - likely benign g.143081572G>A g.142760435G>A HIVEP2(NM_006734.3):c.5853C>T (p.G1951=) - HIVEP2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5857G>A r.(?) p.(Val1953Ile) Unknown - likely benign g.143081568C>T - HIVEP2(NM_006734.3):c.5857G>A (p.(Val1953Ile)) - HIVEP2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5857G>C r.(?) p.(Val1953Leu) Unknown - likely benign g.143081568C>G - HIVEP2(NM_006734.3):c.5857G>C (p.V1953L) - HIVEP2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5866G>A r.(?) p.(Gly1956Arg) Unknown - VUS g.143081559C>T - HIVEP2(NM_006734.4):c.5866G>A (p.(Gly1956Arg)) - HIVEP2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5892A>G r.(?) p.(Gly1964=) Unknown - likely benign g.143081533T>C g.142760396T>C HIVEP2(NM_006734.3):c.5892A>G (p.G1964=) - HIVEP2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5959A>T r.(?) p.(Ser1987Cys) Unknown - VUS g.143081466T>A - HIVEP2(NM_006734.3):c.5959A>T (p.S1987C) - HIVEP2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5989G>T r.(?) p.(Glu1997*) Unknown - pathogenic g.143081436C>A - HIVEP2(NM_006734.3):c.5989G>T (p.E1997*) - HIVEP2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5997G>C r.(?) p.(Gln1999His) Unknown - VUS g.143081428C>G - HIVEP2(NM_006734.4):c.5997G>C (p.Q1999H) - HIVEP2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6024C>G r.(?) p.(Asp2008Glu) Unknown - likely benign g.143081401G>C - HIVEP2(NM_006734.4):c.6024C>G (p.(Asp2008Glu)) - HIVEP2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6421A>G r.(?) p.(Ile2141Val) Unknown - VUS g.143081004T>C - HIVEP2(NM_006734.3):c.6421A>G (p.I2141V) - HIVEP2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6478C>G r.(?) p.(Gln2160Glu) Unknown - VUS g.143080947G>C - HIVEP2(NM_006734.3):c.6478C>G (p.(Gln2160Glu)) - HIVEP2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6482_6484del r.(?) p.(Tyr2161del) Unknown ACMG VUS (!) g.143080941_143080943del - - - HIVEP2_000050 ACMG: PM4, PM2_SUP, PP3: class 3 - - - Germline ? - - - - DNA SEQ-NG-I - - MRD 175865 - - F ? Germany - - - - - 1 Andreas Laner
?/. - c.6517-5C>G r.spl? p.? Unknown - VUS g.143075073G>C - HIVEP2(NM_006734.4):c.6517-5C>G - HIVEP2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6609_6616del r.(?) p.(Glu2204*) Unknown - pathogenic g.143074970_143074977del g.142753833_142753840del - - HIVEP2_000005 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - (Germany) - - - - - 1 IMGAG
-?/. - c.6758T>C r.(?) p.(Leu2253Ser) Unknown - likely benign g.143074827A>G - HIVEP2(NM_006734.3):c.6758T>C (p.(Leu2253Ser)) - HIVEP2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6871C>T - - Unknown - pathogenic (dominant) g.143074714G>A - NM_006734:c.C6871T (Q2291X) - HIVEP2_000065 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSC0020 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
-/. - c.6885A>G r.(?) p.(Pro2295=) Unknown - benign g.143074700T>C g.142753563T>C HIVEP2(NM_006734.4):c.6885A>G (p.P2295=) - HIVEP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6989C>A r.(?) p.(Thr2330Lys) Unknown - likely benign g.143074596G>T g.142753459G>T - - HIVEP2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7036C>T r.(?) p.(Leu2346Phe) Unknown - likely benign g.143074549G>A - HIVEP2(NM_006734.4):c.7036C>T (p.L2346F) - HIVEP2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7156C>T r.(?) p.(His2386Tyr) Unknown - VUS g.143074429G>A - HIVEP2(NM_006734.3):c.7156C>T (p.(His2386Tyr)) - HIVEP2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7223C>T r.(?) p.(Thr2408Met) Unknown - likely benign g.143074362G>A - HIVEP2(NM_006734.3):c.7223C>T (p.(Thr2408Met)) - HIVEP2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.