Full data view for gene NONO

Information The variants shown are described using the NM_007363.4 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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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     
+/. _1_5i c.-596_(650+49_651-65){0} r.0? p.0? Maternal (confirmed) - pathogenic (recessive) g.(70475642_70483888)_(70514427_70516350)del - - - NONO_000018 - PubMed: Scott 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CHD Ind3 PubMed: Scott 2017 2 generation family, 1 affected, no family history, asymptomatic mother M - United States Hispanic - - - - 1 Johan den Dunnen
?/. - c.47C>G r.(?) p.(Pro16Arg) Unknown - VUS g.70510534C>G g.71290684C>G - - NONO_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.81_83dup r.(?) p.(Gln27dup) Unknown - VUS g.70510568_70510570dup - NONO(NM_001145408.1):c.81_83dupGCA (p.Q27dup) - NONO_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.84_95dup r.(?) p.(His28_Gln31dup) Unknown - VUS g.70510571_70510582dup - NONO(NM_001145408.2):c.84_95dupCCACCAGCAGCA (p.H28_Q31dup) - NONO_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i c.154+5_154+6del r.154_155ins154+3_154+15 p.Asn52Serfs*6 Maternal (confirmed) - pathogenic (recessive) g.70510646_70510647del g.71290796_71290797del 154+5_154+6delGT - NONO_000019 variant de novo in patient's unaffected mother - - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID patient PubMed: Carlston 2019 2 generation family, 1 affected, unaffected carrier mother M - United States - - - - - 1 Johan den Dunnen
-?/. - c.444A>G r.(?) p.(Ala148=) Unknown - likely benign g.70514172A>G - NONO(NM_001145408.1):c.444A>G (p.A148=) - NONO_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.447C>T r.(?) p.(Ser149=) Unknown - likely benign g.70514175C>T - NONO(NM_001145408.1):c.447C>T (p.S149=) - NONO_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.457C>T r.(?) p.(Arg153Ter) Unknown - likely pathogenic g.70514185C>T g.71294335C>T - - NONO_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.457C>T r.(?) p.(Arg153*) Unknown ACMG pathogenic g.70514185C>T g.71294335C>T - - NONO_000011 - - 833999 - De novo - - - - - DNA SEQ-NG-I blood WES MRXS34 - - - M - China - - - - - 1 Xiaoyan Peng
-?/. - c.465T>C r.(?) p.(Leu155=) Unknown - likely benign g.70514193T>C - NONO(NM_001145408.1):c.465T>C (p.L155=) - NONO_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.491T>C r.(?) p.(Leu164Pro) Unknown - VUS g.70514219T>C - NONO(NM_007363.4):c.491T>C (p.(Leu164Pro)) - NONO_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.573C>T r.(?) p.(Gly191=) Unknown - likely benign g.70514301C>T - NONO(NM_001145408.1):c.573C>T (p.G191=) - NONO_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.605G>A r.(?) p.(Arg202Gln) Unknown - VUS g.70514333G>A - NONO(NM_001145408.2):c.605G>A (p.R202Q) - NONO_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.775C>T r.(?) p.(Gln259Ter) Unknown - likely pathogenic g.70516729C>T - - - ITGB1BP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.864C>T r.(?) p.(Asn288=) Unknown - likely benign g.70516818C>T - NONO(NM_001145408.1):c.864C>T (p.N288=) - ITGB1BP2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.899T>C r.(?) p.(Met300Thr) Unknown - VUS g.70516853T>C - NONO(NM_001145408.2):c.899T>C (p.M300T) - ITGB1BP2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.944-6T>G r.(=) p.(=) Unknown - VUS g.70517221T>G g.71297371T>G NONO(NM_001145408.1):c.944-6T>G (p.(=)) - NONO_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7i c.944-6T>G r.943_944= p.= Unknown - VUS g.70517221T>G g.71297371T>G - - NONO_000009 no effect on RNA - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
?/. - c.1000G>A r.(?) p.(Val334Met) Unknown - VUS g.70517283G>A - NONO(NM_007363.4):c.1000G>A (p.(Val334Met)) - ITGB1BP2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1029-4G>C r.spl? p.? Unknown - likely benign g.70517682G>C - NONO(NM_001145408.2):c.1029-4G>C - ITGB1BP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1093C>T r.(?) p.(Arg365Ter) Unknown - pathogenic g.70517750C>T g.71297900C>T - - NONO_000020 - PubMed: Mircsof 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ID DECIPHER PubMed: Mircsof 2015 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 10 c.1093C>T r.(?) p.(Arg365Ter) Unknown - pathogenic g.70517750C>T g.71297900C>T - - NONO_000020 - PubMed: Scott 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CHD Ind1 PubMed: Scott 2017 2 generation family, 1 affected, no family history M - United States Hispanic - - - - 1 Johan den Dunnen
-?/. - c.1119C>T r.(?) p.(Thr373=) Unknown - likely benign g.70517776C>T g.71297926C>T NONO(NM_001145408.1):c.1119C>T (p.T373=) - ITGB1BP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1131G>A r.spl p.? Unknown - pathogenic g.70517788G>A g.71297938G>A - - NONO_000021 - PubMed: Mircsof 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID MCCID1 PubMed: Mircsof 2015 2 generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.1132-73T>C r.(=) p.(=) Maternal (inferred) - VUS g.70518246T>C g.71298396T>C - - NONO_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1132-73T>C r.(=) p.(=) Maternal (inferred) - VUS g.70518246T>C g.71298396T>C - - NONO_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. 11i c.1171+1G>T r.spl p.? Unknown - pathogenic g.70518359G>T - - - NONO_000007 - PubMed: Reinstein 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID patient PubMed: Reinstein 2016 - M - Israel Jew-Ashkenazi;Libya - - - - 1 Johan den Dunnen
-?/. - c.1210G>A r.(?) p.(Ala404Thr) Unknown - likely benign g.70518595G>A g.71298745G>A NONO(NM_001145408.1):c.1210G>A (p.A404T) - NONO_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1313C>T r.(?) p.(Ala438Val) Unknown - likely benign g.70519823C>T - NONO(NM_001145408.1):c.1313C>T (p.A438V) - ITGB1BP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1354_1356del r.(?) p.(Pro452del) Unknown - VUS g.70519864_70519866del - NONO(NM_001145408.1):c.1354_1356delCCT (p.P452del) - ITGB1BP2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1394dup r.(?) p.(Asn466LysfsTer13) Maternal (confirmed) - pathogenic (recessive) g.70519904dup g.71300054dup - - NONO_000022 - PubMed: Mircsof 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID MCCID2 PubMed: Mircsof 2015 2 generation family, 1 affected, unaffected carrier mother M - - - - - - - 1 Johan den Dunnen
+/. 13 c.1394dup r.(?) p.(Asn466LysfsTer13) Unknown - pathogenic g.70519904dup g.71300054dup 1394dupC - NONO_000022 - PubMed: Scott 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CHD Ind2 PubMed: Scott 2017 2 generation family, 1 affected, no family history M - United States Hispanic - - - - 1 Johan den Dunnen
?/. - c.*311del r.(=) p.(=) Unknown - VUS g.70520237del g.71300387del - - NONO_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*325dup r.(=) p.(=) Unknown - VUS g.70520251dup g.71300401dup - - NONO_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*1767C>T r.(=) p.(=) Unknown - VUS g.70521693C>T g.71301843C>T ITGB1BP2(NM_012278.1):c.37C>T (p.(His13Tyr)) - ITGB1BP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2216C>T r.(=) p.(=) Unknown - VUS g.70522142C>T - ITGB1BP2(NM_012278.3):c.130C>T (p.R44*) - ITGB1BP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2229T>G r.(=) p.(=) Unknown - VUS g.70522155T>G g.71302305T>G ITGB1BP2(NM_012278.1):c.143T>G (p.(Val48Gly)) - ITGB1BP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3399A>T r.(=) p.(=) Unknown - VUS g.70523325A>T g.71303475A>T ITGB1BP2(NM_012278.3):c.427A>T (p.I143F) - ITGB1BP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3402C>T r.(=) p.(=) Unknown - likely benign g.70523328C>T g.71303478C>T ITGB1BP2(NM_012278.3):c.430C>T (p.R144W) - ITGB1BP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3812G>A r.(=) p.(=) Unknown - VUS g.70523738G>A - ITGB1BP2(NM_012278.4):c.616G>A (p.G206S) - ITGB1BP2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3836G>A r.(=) p.(=) Unknown - VUS g.70523762G>A - ITGB1BP2(NM_012278.1):c.639+1G>A (p.?) - ITGB1BP2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4121C>T r.(=) p.(=) Unknown - VUS g.70524047C>T - ITGB1BP2(NM_012278.3):c.650C>T (p.S217F) - ITGB1BP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4126C>T r.(=) p.(=) Unknown - VUS g.70524052C>T - ITGB1BP2(NM_012278.4):c.655C>T (p.(Arg219Cys)) - ITGB1BP2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4524G>T r.(=) p.(=) Unknown - VUS g.70524450G>T - ITGB1BP2(NM_012278.3):c.812G>T (p.W271L) - ITGB1BP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4931C>T r.(=) p.(=) Unknown - VUS g.70524857C>T - ITGB1BP2(NM_012278.4):c.859C>T (p.R287W) - ITGB1BP2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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