Full data view for gene DIAPH2

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

37 entries on 1 page. Showing entries 1 - 37.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.70A>T VUS r.(?) p.(Asn24Tyr) Unknown g.95940127A>T - DIAPH2(NM_006729.4):c.70A>T (p.(Asn24Tyr)) - DIAPH2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.247G>A likely benign r.(?) p.(Ala83Thr) Unknown g.95993666G>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 g.95993666G>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 - - p.(=) Maternal (inferred) 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 - - p.(=) Maternal (inferred) 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+2965G>A likely benign r.(=) p.(=) Unknown g.96139682G>A - RPA4(NM_013347.4):c.373G>A (p.V125I) - DIAPH2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.587+2999G>A likely benign r.(=) p.(=) Unknown g.96139716G>A - RPA4(NM_013347.4):c.407G>A (p.G136E) - DIAPH2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.587+3080A>G likely benign r.(=) p.(=) Unknown g.96139797A>G - RPA4(NM_013347.4):c.488A>G (p.N163S) - DIAPH2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.587+3160G>T likely benign r.(=) p.(=) Unknown g.96139877G>T - RPA4(NM_013347.4):c.568G>T (p.A190S) - DIAPH2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.587+3170A>G likely benign r.(=) p.(=) Unknown g.96139887A>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 g.96167327C>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.660dup VUS r.(?) p.(Gln221Thrfs*6) Unknown g.96167399dup - DIAPH2(NM_006729.4):c.660dupA (p.Q221Tfs*6) - DIAPH2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.733-21_733-20del - - p.(=) Unknown 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 benign r.spl? p.? Unknown g.96171434del - DIAPH2(NM_006729.4):c.733-3delT - DIAPH2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.733-2A>T likely benign r.spl? p.? Unknown g.96171435A>T - DIAPH2(NM_006729.4):c.733-2A>T (p.?) - DIAPH2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.733-2_733-1del likely benign r.spl? p.? Unknown g.96171435_96171436del - DIAPH2(NM_006729.4):c.733-2_733-1del (p.?) - DIAPH2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.733-1G>T likely benign r.spl? p.? Unknown g.96171436G>T - DIAPH2(NM_006729.4):c.733-1G>T (p.?) - DIAPH2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.736G>T likely benign r.(?) p.(Gly246*) Unknown g.96171440G>T - DIAPH2(NM_006729.4):c.736G>T (p.(Gly246Ter)) - DIAPH2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.736_738del likely benign r.(?) p.(Gly246del) Unknown g.96171440_96171442del - DIAPH2(NM_006729.4):c.736_738del (p.(Gly246del)) - DIAPH2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.737G>T likely benign r.(?) p.(Gly246Val) Unknown g.96171441G>T - DIAPH2(NM_006729.4):c.737G>T (p.(Gly246Val)) - DIAPH2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1326-137A>G - - p.(=) Maternal (inferred) 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 - - p.(=) Maternal (inferred) 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 - - p.(=) Maternal (inferred) 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 - - p.(=) Maternal (inferred) 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.1512C>T likely benign r.(?) p.(=) Unknown g.96203936C>T - DIAPH2(NM_006729.4):c.1512C>T (p.(=)) - DIAPH2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1518A>T likely benign r.(?) p.(Glu506Asp) Unknown g.96203942A>T - DIAPH2(NM_006729.4):c.1518A>T (p.(Glu506Asp)) - DIAPH2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1935+66T>C - - p.(=) Maternal (inferred) 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 - - p.(=) Maternal (inferred) 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.2200G>A likely benign r.(?) p.(Val734Ile) Unknown g.96330213G>A - DIAPH2(NM_006729.4):c.2200G>A (p.V734I) - DIAPH2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2805A>G likely benign r.(?) p.(=) Unknown g.96502799A>G - DIAPH2(NM_006729.4):c.2805A>G (p.Q935=) - DIAPH2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2815C>A likely benign r.(?) p.(Gln939Lys) Unknown g.96502809C>A - DIAPH2(NM_006729.4):c.2815C>A (p.Q939K) - DIAPH2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2968G>A VUS r.(?) p.(Glu990Lys) Unknown g.96603238G>A - DIAPH2(NM_006729.4):c.2968G>A (p.E990K) - DIAPH2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 26 c.3106C>A - r.(?) p.(Arg1036Ser) Parent #1 g.96639004C>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 VUS r.(?) p.(Arg1036Ser) Unknown g.96639004C>A - DIAPH2(NM_006729.4):c.3106C>A (p.R1036S) - DIAPH2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3241+65del - - p.(=) Unknown 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 - - p.(=) Maternal (inferred) 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 - - p.(=) Maternal (inferred) 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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