Full data view for gene DIAPH2

Information The variants shown are described using the NM_006729.4 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
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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     
?/. - c.70A>T r.(?) p.(Asn24Tyr) Unknown - VUS g.95940127A>T g.96685128A>T DIAPH2(NM_006729.4):c.70A>T (p.(Asn24Tyr)) - DIAPH2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.108G>T r.(?) p.(Glu36Asp) Unknown - likely benign g.95940165G>T - DIAPH2(NM_006729.4):c.108G>T (p.E36D) - DIAPH2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.179C>T r.(?) p.(Thr60Ile) Unknown - VUS g.95993598C>T - DIAPH2(NM_006729.4):c.179C>T (p.T60I) - DIAPH2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.247G>A r.(?) p.(Ala83Thr) Unknown - likely benign g.95993666G>A g.96738667G>A DIAPH2(NM_006729.4):c.247G>A (p.(Ala83Thr)) - DIAPH2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.247G>A r.(?) p.(Ala83Thr) Parent #1 - VUS g.95993666G>A g.96738667G>A A83T - DIAPH2_000018 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.448-143T>C r.(=) p.(=) Maternal (inferred) - VUS g.96136435T>C g.96881436T>C - - DIAPH2_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.448-143T>C r.(=) p.(=) Maternal (inferred) - VUS g.96136435T>C g.96881436T>C - - DIAPH2_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.587+2785A>G r.(=) p.(=) Unknown - likely benign g.96139502A>G g.96884503A>G RPA4(NM_013347.4):c.193A>G (p.K65E) - DIAPH2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.587+2965G>A r.(=) p.(=) Unknown - likely benign g.96139682G>A g.96884683G>A RPA4(NM_013347.4):c.373G>A (p.V125I) - DIAPH2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.587+2999G>A r.(=) p.(=) Unknown - likely benign g.96139716G>A g.96884717G>A RPA4(NM_013347.4):c.407G>A (p.G136E) - DIAPH2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.587+3080A>G r.(=) p.(=) Unknown - likely benign g.96139797A>G g.96884798A>G RPA4(NM_013347.4):c.488A>G (p.N163S) - DIAPH2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.587+3160G>T r.(=) p.(=) Unknown - likely benign g.96139877G>T g.96884878G>T RPA4(NM_013347.4):c.568G>T (p.A190S) - DIAPH2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.587+3170A>G r.(=) p.(=) Unknown - likely benign g.96139887A>G g.96884888A>G RPA4(NM_013347.4):c.578A>G (p.N193S) - DIAPH2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 6 c.588C>T r.(?) p.(=) Parent #1 - likely benign g.96167327C>T g.96912328C>T S196S - DIAPH2_000025 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
-?/. - c.588C>T r.(?) p.(Ser196=) Unknown - likely benign g.96167327C>T - DIAPH2(NM_006729.4):c.588C>T (p.(=)) - DIAPH2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.660dup r.(?) p.(Gln221ThrfsTer6) Unknown - VUS g.96167399dup g.96912400dup DIAPH2(NM_006729.4):c.660dupA (p.Q221Tfs*6) - DIAPH2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.684G>C r.(?) p.(Lys228Asn) Unknown - VUS g.96167503G>C g.96912504G>C DIAPH2(NM_006729.4):c.684G>C (p.K228N) - DIAPH2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.733-21_733-20del r.(=) p.(=) Unknown - VUS g.96171416_96171417del g.96916417_96916418del - - DIAPH2_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.733-3del r.spl? p.? Unknown - benign g.96171434del g.96916435del DIAPH2(NM_006729.4):c.733-3delT - DIAPH2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.733-2_733-1del r.spl? p.? Unknown - likely benign g.96171435_96171436del g.96916436_96916437del DIAPH2(NM_006729.4):c.733-2_733-1del (p.?) - DIAPH2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.736G>T r.(?) p.(Gly246Ter) Unknown - VUS g.96171440G>T g.96916441G>T DIAPH2(NM_006729.4):c.736G>T (p.(Gly246Ter)) - DIAPH2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.736_738del r.(?) p.(Gly246del) Unknown - VUS g.96171440_96171442del g.96916441_96916443del DIAPH2(NM_006729.4):c.736_738del (p.(Gly246del)) - DIAPH2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.737G>T r.(?) p.(Gly246Val) Unknown - likely benign g.96171441G>T g.96916442G>T DIAPH2(NM_006729.4):c.737G>T (p.(Gly246Val)) - DIAPH2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.737_738del r.(?) p.(Gly246ValfsTer8) Unknown - VUS g.96171441_96171442del g.96916442_96916443del DIAPH2(NM_006729.4):c.737_738del (p.(Gly246ValfsTer8)) - DIAPH2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.943G>C r.(?) p.(Glu315Gln) Unknown - VUS g.96173581G>C - DIAPH2(NM_006729.4):c.943G>C (p.E315Q) - DIAPH2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1326-137A>G r.(=) p.(=) Maternal (inferred) - VUS g.96196880A>G g.96941881A>G - - DIAPH2_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1326-137A>G r.(=) p.(=) Maternal (inferred) - VUS g.96196880A>G g.96941881A>G - - DIAPH2_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1444+40G>A r.(=) p.(=) Maternal (inferred) - VUS g.96197175G>A g.96942176G>A - - DIAPH2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1444+40G>A r.(=) p.(=) Maternal (inferred) - VUS g.96197175G>A g.96942176G>A - - DIAPH2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1935+66T>C r.(=) p.(=) Maternal (inferred) - VUS g.96213213T>C g.96958214T>C - - DIAPH2_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1935+66T>C r.(=) p.(=) Maternal (inferred) - VUS g.96213213T>C g.96958214T>C - - DIAPH2_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2084_2086del r.(?) p.(Lys695del) Unknown - VUS g.96327973_96327975del - DIAPH2(NM_006729.4):c.2084_2086delAGA (p.K695del) - DIAPH2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2200G>A r.(?) p.(Val734Ile) Unknown - likely benign g.96330213G>A g.97075214G>A DIAPH2(NM_006729.4):c.2200G>A (p.V734I) - DIAPH2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2331T>C r.(?) p.(Pro777=) Unknown - likely benign g.96354776T>C - DIAPH2(NM_006729.4):c.2331T>C (p.P777=) - DIAPH2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2343A>T r.(?) p.(Gly781=) Unknown - likely benign g.96354788A>T g.97099789A>T DIAPH2(NM_006729.4):c.2343A>T (p.G781=) - DIAPH2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2805A>G r.(?) p.(Gln935=) Unknown - likely benign g.96502799A>G g.97247800A>G DIAPH2(NM_006729.4):c.2805A>G (p.Q935=) - DIAPH2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2815C>A r.(?) p.(Gln939Lys) Unknown - likely benign g.96502809C>A g.97247810C>A DIAPH2(NM_006729.4):c.2815C>A (p.Q939K) - DIAPH2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2968G>A r.(?) p.(Glu990Lys) Unknown - VUS g.96603238G>A g.97348239G>A DIAPH2(NM_006729.4):c.2968G>A (p.E990K) - DIAPH2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3009+4A>C r.spl? p.? Unknown - likely benign g.96603283A>C - DIAPH2(NM_006729.4):c.3009+4A>C - DIAPH2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 26 c.3106C>A r.(?) p.(Arg1036Ser) Parent #1 - VUS g.96639004C>A g.97384005C>A R1036S - DIAPH2_000026 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.3106C>A r.(?) p.(Arg1036Ser) Unknown - VUS g.96639004C>A g.97384005C>A DIAPH2(NM_006729.4):c.3106C>A (p.R1036S) - DIAPH2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3241+65del r.(=) p.(=) Unknown - VUS g.96684809del g.97429810del - - DIAPH2_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1211G>A r.(=) p.(=) Maternal (inferred) - VUS g.96855527G>A g.97600528G>A - - DIAPH2_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1211G>A r.(=) p.(=) Maternal (inferred) - VUS g.96855527G>A g.97600528G>A - - DIAPH2_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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