Full data view for gene CENPJ

Information The variants shown are described using the NM_018451.3 transcript reference sequence.

150 entries on 2 pages. Showing entries 1 - 100.
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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     
+/. 2 c.18del r.(?) p.(Ser7LeufsTer4) Both (homozygous) - pathogenic (recessive) g.25487147del g.24913009del 18delC - CENPJ_000114 - PubMed: Sajid Hussain 2013 - - Germline - - - - - DNA SEQ - - microcephaly MCP21 PubMed: Sajid Hussain 2013 family, 1 affected - - Pakistan - - - - - 1 Johan den Dunnen
+/. 2 c.18del r.(?) p.(Ser7LeufsTer4) Both (homozygous) - pathogenic (recessive) g.25487147del g.24913009del 18delC - CENPJ_000114 - PubMed: Sajid Hussain 2013 - - Germline - - - - - DNA SEQ - - microcephaly MCP22 PubMed: Sajid Hussain 2013 family, 1 affected - - Pakistan - - - - - 1 Johan den Dunnen
+/. 2 c.18del r.(?) p.(Ser7LeufsTer4) Both (homozygous) - pathogenic (recessive) g.25487147del g.24913009del 18delC - CENPJ_000114 - PubMed: Sajid Hussain 2013 - - Germline - - - - - DNA SEQ - - microcephaly MCP24 PubMed: Sajid Hussain 2013 family, 1 affected - - Pakistan - - - - - 1 Johan den Dunnen
+/. 2 c.18del r.(?) p.(Ser7LeufsTer4) Both (homozygous) - pathogenic (recessive) g.25487147del g.24913009del 17delC - CENPJ_000114 - PubMed: Kraemer 2016 - - Germline - - - - - DNA SEQ - - microcephaly FamMC7PatIV1 PubMed: Kraemer 2016 family, 3 affected - yes Pakistan - - - - - 3 Johan den Dunnen
+/. 2 c.18del r.(?) p.(Ser7LeufsTer4) Both (homozygous) - pathogenic (recessive) g.25487147del g.24913009del 17delC - CENPJ_000114 - PubMed: Kraemer 2016 - - Germline - - - - - DNA SEQ - - microcephaly FamMC7PatIV2 PubMed: Kraemer 2016 sib - yes Pakistan - - - - - 1 Johan den Dunnen
+/. 2 c.18del r.(?) p.(Ser7LeufsTer4) Both (homozygous) - pathogenic (recessive) g.25487147del g.24913009del 17delC - CENPJ_000114 - PubMed: Kraemer 2016 - - Germline - - - - - DNA SEQ - - microcephaly FamMC7PatIV3 PubMed: Kraemer 2016 sib - yes Pakistan - - - - - 1 Johan den Dunnen
+/. 2 c.25G>T r.(?) p.(Glu9*) Maternal (confirmed) - pathogenic g.25487139C>A g.24913001C>A - - CENPJ_000003 - - - - Germline yes - - - - DNA SEQ, SEQ-NG - - MCPH6 - - - - no - - - - - - 1 Karen Stals
+/. - c.40C>T r.(?) p.(Gln14*) Unknown ACMG pathogenic g.25487124G>A - - - CENPJ_000113 - - - rs201822162 Unknown - - - - - DNA SEQ-NG - - SIDS SIDS235 - - F - Switzerland Europe 00y06m - - - 1 Cordula Haas
-/. - c.61A>G r.(?) p.(Met21Val) Unknown - benign g.25487103T>C g.24912965T>C CENPJ(NM_018451.4):c.61A>G (p.M21V) - CENPJ_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.61A>G r.(?) p.(Met21Val) Unknown - benign g.25487103T>C g.24912965T>C CENPJ(NM_018451.4):c.61A>G (p.M21V) - CENPJ_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.61A>T r.(?) p.(Met21Leu) Unknown - likely benign g.25487103T>A g.24912965T>A CENPJ(NM_018451.4):c.61A>T (p.(Met21Leu)) - CENPJ_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68A>G r.(?) p.(Asn23Ser) Unknown - likely benign g.25487096T>C g.24912958T>C CENPJ(NM_018451.4):c.68A>G (p.(Asn23Ser)) - CENPJ_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.76_77insCGGCTG r.(?) p.(Arg26delinsProAlaGly) Unknown - VUS g.25487087_25487088insCAGCCG g.24912949_24912950insCAGCCG CENPJ(NM_018451.4):c.76_77insCGGCTG (p.R26delinsPAG) - CENPJ_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.130A>T r.(?) p.(Lys44Ter) Both (homozygous) ACMG likely pathogenic (recessive) g.25487034T>A g.24912896T>A - - CENPJ_000110 - - - - Germline yes - - - - DNA SEQ-NG - - microcephaly - - - - - - - - - - - 1 Andrea Accogli
+?/. - c.133C>T r.(?) p.(Arg45*) Parent #1 - likely pathogenic g.25487031G>A g.24912893G>A - - CENPJ_000096 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs786205481 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.133C>T r.(?) p.(Arg45*) Both (homozygous) ACMG likely pathogenic g.25487031G>A g.24912893G>A - - CENPJ_000096 ACMG PVS1, PM2 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - 758-gene panel ID 12DG1883 PubMed: Anazi 2017 simplex case M yes Saudi Arabia - - - - - 1 Johan den Dunnen
-/. - c.163C>G r.(?) p.(Pro55Ala) Unknown - benign g.25487001G>C g.24912863G>C CENPJ(NM_018451.4):c.163C>G (p.P55A, p.(Pro55Ala)) - CENPJ_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.163C>G r.(?) p.(Pro55Ala) Unknown - likely benign g.25487001G>C g.24912863G>C CENPJ(NM_018451.4):c.163C>G (p.P55A, p.(Pro55Ala)) - CENPJ_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.187G>C r.(?) p.(Asp63His) Unknown - benign g.25486977C>G g.24912839C>G CENPJ(NM_018451.4):c.187G>C (p.D63H, p.(Asp63His)) - CENPJ_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.187G>C r.(?) p.(Asp63His) Unknown - likely benign g.25486977C>G g.24912839C>G CENPJ(NM_018451.4):c.187G>C (p.D63H, p.(Asp63His)) - CENPJ_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.223C>A r.(?) p.(Leu75Ile) Unknown - likely benign g.25486941G>T g.24912803G>T CENPJ(NM_018451.4):c.223C>A (p.(Leu75Ile)) - CENPJ_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.253C>A r.(?) p.(Pro85Thr) Unknown - benign g.25486911G>T g.24912773G>T CENPJ(NM_018451.4):c.253C>A (p.P85T) - CENPJ_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.253C>A r.(?) p.(Pro85Thr) Unknown - benign g.25486911G>T g.24912773G>T CENPJ(NM_018451.4):c.253C>A (p.P85T) - CENPJ_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.287A>G r.(?) p.(His96Arg) Unknown - benign g.25486877T>C g.24912739T>C CENPJ(NM_018451.4):c.287A>G (p.H96R, p.(His96Arg)) - CENPJ_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.287A>G r.(?) p.(His96Arg) Unknown - likely benign g.25486877T>C g.24912739T>C CENPJ(NM_018451.4):c.287A>G (p.H96R, p.(His96Arg)) - CENPJ_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.289A>G r.(?) p.(Thr97Ala) Unknown - likely benign g.25486875T>C g.24912737T>C CENPJ(NM_018451.4):c.289A>G (p.(Thr97Ala)) - CENPJ_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.289dup r.(?) p.(Thr97Asnfs*7) Unknown - pathogenic g.25486875dup g.24912737dup CENPJ(NM_018451.4):c.289dupA (p.T97Nfs*7) - CENPJ_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.305T>A r.(?) p.(Ile102Asn) Unknown - likely benign g.25486859A>T g.24912721A>T CENPJ(NM_018451.4):c.305T>A (p.I102N) - CENPJ_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.309A>C r.(?) p.(Lys103Asn) Unknown - likely benign g.25486855T>G g.24912717T>G CENPJ(NM_018451.4):c.309A>C (p.(Lys103Asn)) - CENPJ_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.326C>T r.(?) p.(Ala109Val) Unknown - likely benign g.25486838G>A - CENPJ(NM_018451.4):c.326C>T (p.(Ala109Val)) - CENPJ_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.388G>A r.(?) p.(Ala130Thr) Unknown - VUS g.25486776C>T g.24912638C>T CENPJ(NM_018451.4):c.388G>A (p.(Ala130Thr)) - CENPJ_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.389C>T r.(?) p.(Ala130Val) Unknown - VUS g.25486775G>A g.24912637G>A CENPJ(NM_018451.4):c.389C>T (p.(Ala130Val)) - CENPJ_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.407G>T r.(?) p.(Gly136Val) Unknown - likely benign g.25486757C>A - CENPJ(NM_018451.4):c.407G>T (p.(Gly136Val)) - CENPJ_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.505_506del r.(?) p.(Gln169Glufs*27) Unknown - pathogenic g.25486147_25486148del - CENPJ(NM_018451.4):c.505_506delCA (p.Q169Efs*27) - CENPJ_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.566del r.(?) p.(Pro189Glnfs*3) Unknown - likely pathogenic g.25486087del - CENPJ(NM_018451.5):c.566del (p.(Pro189GlnfsTer3)) - CENPJ_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.579A>C r.(?) p.(Leu193Phe) Unknown - VUS g.25484214T>G g.24910076T>G CENPJ(NM_018451.4):c.579A>C (p.(Leu193Phe)) - CENPJ_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.584C>T r.(?) p.(Pro195Leu) Unknown - VUS g.25484209G>A g.24910071G>A CENPJ(NM_018451.4):c.584C>T (p.P195L) - CENPJ_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.622A>G r.(?) p.(Thr208Ala) Unknown - likely benign g.25484171T>C g.24910033T>C CENPJ(NM_018451.4):c.622A>G (p.T208A, p.(Thr208Ala)) - CENPJ_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.622A>G r.(?) p.(Thr208Ala) Unknown - likely benign g.25484171T>C g.24910033T>C CENPJ(NM_018451.4):c.622A>G (p.T208A, p.(Thr208Ala)) - CENPJ_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.634G>T r.(?) p.(Glu212*) Unknown - pathogenic g.25484159C>A - CENPJ(NM_018451.5):c.634G>T (p.(Glu212Ter)) - CENPJ_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.659C>T r.(?) p.(Ser220Leu) Unknown - likely benign g.25484134G>A g.24909996G>A CENPJ(NM_018451.4):c.659C>T (p.S220L) - CENPJ_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.692C>T r.(?) p.(Thr231Ile) Unknown - VUS g.25484101G>A g.24909963G>A CENPJ(NM_018451.4):c.692C>T (p.T231I) - CENPJ_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.763A>G r.(?) p.(Thr255Ala) Unknown - likely benign g.25484030T>C g.24909892T>C - - CENPJ_000102 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.025 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.763A>G r.(?) p.(Thr255Ala) Unknown - likely benign g.25484030T>C - CENPJ(NM_018451.4):c.763A>G (p.(Thr255Ala)) - CENPJ_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.773G>A r.(?) p.(Arg258His) Unknown - likely benign g.25484020C>T g.24909882C>T CENPJ(NM_018451.4):c.773G>A (p.R258H) - CENPJ_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.776C>T r.(?) p.(Ala259Val) Unknown - likely benign g.25484017G>A - CENPJ(NM_018451.4):c.776C>T (p.A259V) - CENPJ_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.779_787del r.(?) p.(Ser260_Asn262del) Unknown - VUS g.25484007_25484015del g.24909869_24909877del CENPJ(NM_018451.4):c.779_787del (p.(Ser260_Asn262del)) - CENPJ_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.784_787del r.(?) p.(Asn262Tyrfs*17) Unknown - likely benign g.25484007_25484010del g.24909869_24909872del CENPJ(NM_018451.4):c.784_787del (p.(Asn262Tyrfs*17)), CENPJ(NM_018451.5):c.784_787delAATT (p.N262Yfs*17) - CENPJ_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.784_787del r.(?) p.(Asn262Tyrfs*17) Unknown - VUS g.25484007_25484010del g.24909869_24909872del CENPJ(NM_018451.4):c.784_787del (p.(Asn262Tyrfs*17)), CENPJ(NM_018451.5):c.784_787delAATT (p.N262Yfs*17) - CENPJ_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.850C>T r.(?) p.(Arg284Cys) Unknown - likely benign g.25483943G>A - CENPJ(NM_018451.4):c.850C>T (p.(Arg284Cys)) - CENPJ_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.859C>A r.(?) p.(Pro287Thr) Unknown - VUS g.25483934G>T g.24909796G>T CENPJ(NM_018451.4):c.859C>A (p.(Pro287Thr)) - CENPJ_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.882T>A r.(?) p.(Cys294*) Unknown - VUS g.25482248A>T - CENPJ(NM_018451.4):c.882T>A (p.(Cys294Ter)) - CENPJ_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.974+14T>C r.(=) p.(=) Unknown - benign g.25482142A>G g.24908004A>G CENPJ(NM_018451.4):c.974+14T>C - CENPJ_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1021T>G r.(?) p.(Tyr341Asp) Unknown - VUS g.25481285A>C g.24907147A>C CENPJ(NM_018451.4):c.1021T>G (p.Y341D, p.(Tyr341Asp)) - CENPJ_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1021T>G r.(?) p.(Tyr341Asp) Unknown - VUS g.25481285A>C g.24907147A>C CENPJ(NM_018451.4):c.1021T>G (p.Y341D, p.(Tyr341Asp)) - CENPJ_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1021T>G r.(?) p.(Tyr341Asp) Parent #1 - VUS g.25481285A>C g.24907147A>C - - CENPJ_000067 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143258862 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.1082C>T r.(?) p.(Ala361Val) Unknown - VUS g.25481094G>A g.24906956G>A CENPJ(NM_018451.5):c.1082C>T (p.A361V) - CENPJ_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1149T>G r.(?) p.(=) Unknown - likely benign g.25481027A>C g.24906889A>C CENPJ(NM_018451.4):c.1149T>G (p.A383=) - CENPJ_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1222G>A r.(?) p.(Glu408Lys) Unknown - VUS g.25480954C>T g.24906816C>T CENPJ(NM_018451.4):c.1222G>A (p.E408K, p.(Glu408Lys)) - CENPJ_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1222G>A r.(?) p.(Glu408Lys) Unknown - VUS g.25480954C>T - CENPJ(NM_018451.4):c.1222G>A (p.E408K, p.(Glu408Lys)) - CENPJ_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1231C>T r.(?) p.(Pro411Ser) Unknown - likely benign g.25480945G>A g.24906807G>A CENPJ(NM_018451.4):c.1231C>T (p.(Pro411Ser)) - CENPJ_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1233G>A r.(?) p.(=) Unknown - likely benign g.25480943C>T g.24906805C>T CENPJ(NM_018451.4):c.1233G>A (p.P411=) - CENPJ_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1263G>C r.(?) p.(Gln421His) Unknown - VUS g.25480913C>G g.24906775C>G CENPJ(NM_018451.4):c.1263G>C (p.Q421H) - CENPJ_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1408C>G r.(?) p.(Pro470Ala) Unknown - likely benign g.25480768G>C g.24906630G>C CENPJ(NM_018451.4):c.1408C>G (p.(Pro470Ala)) - CENPJ_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1426C>T r.(?) p.(Gln476*) Unknown - likely pathogenic g.25480750G>A - CENPJ(NM_018451.5):c.1426C>T (p.(Gln476*)) - CENPJ_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1444G>T r.(?) p.(Asp482Tyr) Unknown - likely benign g.25480732C>A g.24906594C>A CENPJ(NM_018451.4):c.1444G>T (p.D482Y) - CENPJ_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1513G>A r.(?) p.(Glu505Lys) Unknown - likely benign g.25480663C>T g.24906525C>T CENPJ(NM_018451.4):c.1513G>A (p.E505K) - CENPJ_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1542C>T r.(?) p.(=) Unknown - likely benign g.25480634G>A g.24906496G>A CENPJ(NM_018451.4):c.1542C>T (p.C514=) - CENPJ_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1560A>T r.(?) p.(=) Unknown - benign g.25480616T>A g.24906478T>A CENPJ(NM_018451.4):c.1560A>T (p.T520=) - CENPJ_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1586C>G r.(?) p.(Ser529*) Unknown - pathogenic g.25480590G>C - CENPJ(NM_018451.4):c.1586C>G (p.(Ser529*)) - CENPJ_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1649A>G r.(?) p.(Glu550Gly) Unknown - VUS g.25480527T>C - CENPJ(NM_018451.5):c.1649A>G (p.E550G) - CENPJ_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1673A>C r.(?) p.(Gln558Pro) Unknown - VUS g.25480503T>G - CENPJ(NM_018451.4):c.1673A>C (p.(Gln558Pro)) - CENPJ_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1696C>T r.(?) p.(Arg566*) Unknown - pathogenic g.25480480G>A - CENPJ(NM_018451.5):c.1696C>T (p.R566*) - CENPJ_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1744G>T r.(?) p.(Glu582*) Unknown - likely pathogenic g.25480432C>A g.24906294C>A CENPJ(NM_018451.4):c.1744G>T (p.E582*, p.(Glu582*)) - CENPJ_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1744G>T r.(?) p.(Glu582*) Unknown - likely pathogenic g.25480432C>A - CENPJ(NM_018451.4):c.1744G>T (p.E582*, p.(Glu582*)) - CENPJ_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1749A>C r.(?) p.(Gln583His) Unknown - VUS g.25480427T>G g.24906289T>G CENPJ(NM_018451.4):c.1749A>C (p.Q583H) - CENPJ_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1805_1808del r.(?) p.(Glu602Glyfs*65) Unknown - pathogenic g.25480370_25480373del g.24906232_24906235del CENPJ(NM_018451.4):c.1805_1808delAAAG (p.E602Gfs*65) - CENPJ_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1815A>G r.(?) p.(=) Unknown - likely benign g.25480361T>C - CENPJ(NM_018451.4):c.1815A>G (p.(Gln605=)) - CENPJ_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1881G>A r.(?) p.(=) Unknown - likely benign g.25480295C>T g.24906157C>T CENPJ(NM_018451.4):c.1881G>A (p.P627=) - CENPJ_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1891A>G r.(?) p.(Ile631Val) Unknown - likely benign g.25480285T>C g.24906147T>C CENPJ(NM_018451.5):c.1891A>G (p.I631V) - CENPJ_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1933C>T r.(?) p.(Arg645Cys) Unknown - likely benign g.25480243G>A g.24906105G>A CENPJ(NM_018451.4):c.1933C>T (p.(Arg645Cys)) - CENPJ_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1960G>A r.(?) p.(Ala654Thr) Unknown - likely benign g.25480216C>T g.24906078C>T CENPJ(NM_018451.4):c.1960G>A (p.A654T) - CENPJ_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2031C>T r.(?) p.(=) Unknown - benign g.25480145G>A g.24906007G>A CENPJ(NM_018451.4):c.2031C>T (p.A677=) - CENPJ_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2031C>T r.(?) p.(=) Unknown - benign g.25480145G>A g.24906007G>A CENPJ(NM_018451.4):c.2031C>T (p.A677=) - CENPJ_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2074C>T r.(?) p.(Arg692Cys) Unknown - VUS g.25480102G>A g.24905964G>A CENPJ(NM_018451.4):c.2074C>T (p.R692C) - CENPJ_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2082_2084del r.(?) p.(Asp694del) Unknown - VUS g.25480094_25480096del g.24905956_24905958del CENPJ(NM_018451.4):c.2082_2084delTGA (p.D694del) - CENPJ_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2091T>G r.(?) p.(=) Unknown - VUS g.25480085A>C g.24905947A>C CENPJ(NM_018451.4):c.2091T>G (p.V697=) - CENPJ_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2092C>T r.(?) p.(Pro698Ser) Unknown - VUS g.25480084G>A g.24905946G>A CENPJ(NM_018451.4):c.2092C>T (p.P698S) - CENPJ_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2296G>A r.(?) p.(Asp766Asn) Unknown - VUS g.25479880C>T g.24905742C>T CENPJ(NM_018451.4):c.2296G>A (p.D766N) - CENPJ_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2326A>G r.(?) p.(Lys776Glu) Unknown - likely benign g.25479850T>C g.24905712T>C CENPJ(NM_018451.4):c.2326A>G (p.(Lys776Glu)) - CENPJ_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2342C>T r.(?) p.(Ser781Leu) Unknown - likely benign g.25479834G>A - CENPJ(NM_018451.4):c.2342C>T (p.(Ser781Leu)) - CENPJ_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2429A>T r.(?) p.(Asp810Val) Unknown - VUS g.25479747T>A g.24905609T>A CENPJ(NM_018451.4):c.2429A>T (p.D810V), CENPJ(NM_018451.5):c.2429A>T (p.(Asp810Val)) - CENPJ_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2429A>T r.(?) p.(Asp810Val) Unknown - likely benign g.25479747T>A g.24905609T>A CENPJ(NM_018451.4):c.2429A>T (p.D810V), CENPJ(NM_018451.5):c.2429A>T (p.(Asp810Val)) - CENPJ_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2432T>A r.(?) p.(Val811Asp) Unknown - likely benign g.25479744A>T g.24905606A>T CENPJ(NM_018451.4):c.2432T>A (p.V811D, p.(Val811Asp)) - CENPJ_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2432T>A r.(?) p.(Val811Asp) Unknown - VUS g.25479744A>T g.24905606A>T CENPJ(NM_018451.4):c.2432T>A (p.V811D, p.(Val811Asp)) - CENPJ_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2462C>T r.(?) p.(Thr821Met) Unknown - VUS g.25479714G>A g.24905576G>A CENPJ(NM_018451.4):c.2462C>T (p.T821M) - CENPJ_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2462C>T r.(?) p.(Thr821Met) Parent #1 - VUS g.25479714G>A g.24905576G>A - - CENPJ_000023 conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs144938364 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+/. 7 c.2462C>T r.(?) p.(Thr821Met) Both (homozygous) - pathogenic (recessive) g.25479714G>A g.24905576G>A - - CENPJ_000023 - PubMed: Darvish 2010 - - Germline - - - - - DNA SEQ - - microcephaly M-238 PubMed: Darvish 2010 family, 2 affected - yes Iran - - - - - 2 Johan den Dunnen
?/. - c.2500C>T r.(?) p.(=) Unknown - VUS g.25479676G>A g.24905538G>A CENPJ(NM_018451.4):c.2500C>T (p.L834=) - CENPJ_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2588C>T r.(?) p.(Ser863Leu) Unknown - VUS g.25479588G>A g.24905450G>A CENPJ(NM_018451.4):c.2588C>T (p.(Ser863Leu)) - CENPJ_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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