Full data view for gene DIAPH3

Information The variants shown are described using the NM_001042517.1 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
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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 c.-172G>A r.(=) p.(=) Parent #1 - pathogenic g.60738072C>T g.60163938C>T - - DIAPH3_000029 - MORL Deafness Variation Database, PubMed: Schoen 2010 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Schoen 2010 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.83G>A r.(?) p.(Arg28His) Unknown - likely benign g.60737818C>T - DIAPH3(NM_001042517.2):c.83G>A (p.R28H) - DIAPH3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.309A>G r.(?) p.(Ser103=) Unknown - VUS g.60686225T>C - - - DIAPH3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.388A>G r.(?) p.(Met130Val) Unknown - likely benign g.60686146T>C - DIAPH3(NM_001042517.1):c.388A>G (p.M130V) - DIAPH3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.609G>C r.(?) p.(Leu203Phe) Unknown - VUS g.60616841C>G g.60042707C>G - - DIAPH3_000001 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
?/. - c.617A>G r.(?) p.(Asn206Ser) Unknown - VUS g.60616833T>C g.60042699T>C DIAPH3(NM_001042517.1):c.617A>G (p.N206S) - DIAPH3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.627-20G>A r.(=) p.(=) Unknown - benign g.60590299C>T g.60016165C>T DIAPH3(NM_001042517.2):c.627-20G>A, DIAPH3-AS1(NR_046539.2):n.141+3307C>T - DIAPH3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.627-20G>A r.(=) p.(=) Unknown - benign g.60590299C>T g.60016165C>T DIAPH3(NM_001042517.2):c.627-20G>A, DIAPH3-AS1(NR_046539.2):n.141+3307C>T - DIAPH3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.701T>C r.(?) p.(Ile234Thr) Unknown - likely benign g.60590205A>G g.60016071A>G DIAPH3(NM_001042517.1):c.701T>C (p.I234T) - DIAPH3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1088A>G r.(?) p.(Asn363Ser) Unknown - benign g.60566644T>C g.59992510T>C - - DIAPH3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1291A>G r.(?) p.(Thr431Ala) Unknown - VUS g.60565362T>C g.59991228T>C DIAPH3(NM_001042517.1):c.1291A>G (p.T431A) - DIAPH3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1362-7G>C r.(=) p.(=) Unknown - likely benign g.60558028C>G g.59983894C>G DIAPH3(NM_001042517.1):c.1362-7G>C - DIAPH3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1365A>G r.(?) p.(Gln455=) Unknown - likely benign g.60558018T>C - DIAPH3(NM_001042517.1):c.1365A>G (p.Q455=) - DIAPH3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1368A>G r.(?) p.(Gln456=) Unknown - likely benign g.60558015T>C - DIAPH3(NM_001042517.1):c.1368A>G (p.Q456=) - DIAPH3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1405G>A r.(?) p.(Val469Ile) Unknown - likely benign g.60557978C>T - - - DIAPH3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1442A>T r.(?) p.(Tyr481Phe) Unknown - VUS g.60557941T>A - - - DIAPH3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1481-1G>T r.spl? p.? Unknown - likely pathogenic g.60554994C>A - DIAPH3(NM_001042517.2):c.1481-1G>T - DIAPH3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1623A>G r.(?) p.(Gln541=) Unknown - likely benign g.60548513T>C g.59974379T>C DIAPH3(NM_001042517.1):c.1623A>G (p.Q541=) - DIAPH3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1651-7T>C r.(=) p.(=) Unknown - likely benign g.60545301A>G g.59971167A>G DIAPH3(NM_001042517.1):c.1651-7T>C - DIAPH3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1787C>T r.(?) p.(Pro596Leu) Unknown - benign g.60545158G>A g.59971024G>A DIAPH3(NM_001042517.1):c.1787C>T (p.P596L) - DIAPH3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1827T>G r.(?) p.(Pro609=) Unknown - likely benign g.60545118A>C - DIAPH3(NM_001042517.1):c.1827T>G (p.P609=) - DIAPH3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1840C>A r.(?) p.(Pro614Thr) Unknown - likely benign g.60545105G>T g.59970971G>T DIAPH3(NM_001042517.1):c.1840C>A (p.P614T, p.(Pro614Thr)) - DIAPH3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1840C>A r.(?) p.(Pro614Thr) Parent #1 - likely benign g.60545105G>T g.59970971G>T - - DIAPH3_000006 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200018583 Germline - 6/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
-?/. - c.1840C>A r.(?) p.(Pro614Thr) Unknown - likely benign g.60545105G>T - DIAPH3(NM_001042517.1):c.1840C>A (p.P614T, p.(Pro614Thr)) - DIAPH3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2317T>C r.(?) p.(Phe773Leu) Unknown - likely benign g.60485919A>G g.59911785A>G DIAPH3(NM_001042517.1):c.2317T>C (p.F773L), DIAPH3(NM_001042517.2):c.2317T>C (p.(Phe773Leu)) - DIAPH3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2317T>C r.(?) p.(Phe773Leu) Unknown - likely benign g.60485919A>G - DIAPH3(NM_001042517.1):c.2317T>C (p.F773L), DIAPH3(NM_001042517.2):c.2317T>C (p.(Phe773Leu)) - DIAPH3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2354A>G r.(?) p.(Gln785Arg) Unknown - likely benign g.60485882T>C g.59911748T>C DIAPH3(NM_001042517.1):c.2354A>G (p.Q785R) - DIAPH3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2354A>G r.(?) p.(Gln785Arg) Unknown - VUS g.60485882T>C g.59911748T>C DIAPH3(NM_001042517.1):c.2354A>G (p.Q785R) - DIAPH3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2452C>T r.(?) p.(Pro818Ser) Unknown - VUS g.60453518G>A - DIAPH3(NM_001042517.1):c.2452C>T (p.P818S) - DIAPH3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2546del r.(?) p.(Tyr849Serfs*2) Unknown - pathogenic g.60453424del - DIAPH3(NM_001042517.1):c.2546delA (p.Y849Sfs*2) - DIAPH3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2682C>T r.(?) p.(Tyr894=) Unknown - likely benign g.60435596G>A g.59861462G>A DIAPH3(NM_001042517.1):c.2682C>T (p.Y894=) - DIAPH3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2890T>C r.(?) p.(Tyr964His) Unknown - likely benign g.60407378A>G - DIAPH3(NM_001042517.2):c.2890T>C (p.Y964H) - DIAPH3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2914G>A r.(?) p.(Glu972Lys) Paternal (confirmed) - VUS g.60407354C>T g.59833220C>T - - DIAPH3_000027 - - - - Germline - - - - - DNA SEQ-NG-IT - WES ADHD - - - - - Saudi Arabia Arab - - - - 1 Nada Al Tassan
?/. 24 c.2971A>T r.(?) p.(Lys991Ter) Unknown - VUS g.60407297T>A g.59833163T>A - - DIAPH3_000039 - PubMed: Ganapathy 2019 - rs531346416 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4151 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-/. - c.3028-4_3028-3insGTAA r.spl? p.? Unknown - benign g.60385060_60385061insTTAC g.59810926_59810927insTTAC DIAPH3(NM_001042517.1):c.3028-4_3028-3insGTAA, DIAPH3(NM_001042517.2):c.3028-4_3028-3insGTAA - DIAPH3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3028-4_3028-3insGTAA r.spl? p.? Unknown - likely benign g.60385060_60385061insTTAC g.59810926_59810927insTTAC DIAPH3(NM_001042517.1):c.3028-4_3028-3insGTAA, DIAPH3(NM_001042517.2):c.3028-4_3028-3insGTAA - DIAPH3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3028-4_3028-3insGTAA r.spl? p.? Unknown - benign g.60385060_60385061insTTAC g.59810926_59810927insTTAC DIAPH3(NM_001042517.1):c.3028-4_3028-3insGTAA, DIAPH3(NM_001042517.2):c.3028-4_3028-3insGTAA - DIAPH3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 25 c.3050A>G r.(?) p.(Asp1017Gly) Parent #1 - likely pathogenic g.60385035T>C g.59810901T>C - - DIAPH3_000028 - MORL Deafness Variation Database, PubMed: Bae 2013 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Bae 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.3055dup r.(?) p.(Arg1019LysfsTer14) Unknown - pathogenic g.60385036dup g.59810902dup DIAPH3(NM_001042517.1):c.3055dupA (p.R1019Kfs*14) - DIAPH3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3124C>T r.(?) p.(Arg1042Cys) Unknown - VUS g.60384961G>A g.59810827G>A - - DIAPH3_000002 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
-/. - c.3131A>G r.(?) p.(Gln1044Arg) Unknown - benign g.60384954T>C g.59810820T>C DIAPH3(NM_001042517.1):c.3131A>G (p.Q1044R) - DIAPH3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3133A>C r.(?) p.(Lys1045Gln) Unknown - VUS g.60384952T>G g.59810818T>G - - DIAPH3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3142C>T r.(?) p.(Arg1048Cys) Unknown - VUS g.60384943G>A - DIAPH3(NM_001042517.1):c.3142C>T (p.R1048C) - DIAPH3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3226C>T r.(?) p.(Arg1076Cys) Unknown - likely benign g.60348895G>A g.59774761G>A DIAPH3(NM_001042517.1):c.3226C>T (p.R1076C) - DIAPH3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3227G>A r.(?) p.(Arg1076His) Unknown - likely benign g.60348894C>T g.59774760C>T DIAPH3(NM_001042517.1):c.3227G>A (p.R1076H) - DIAPH3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3260-6del r.(=) p.(=) Unknown - likely benign g.60348398del - DIAPH3(NM_001042517.2):c.3260-6del - DIAPH3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3278G>T r.(?) p.(Ser1093Ile) Unknown - VUS g.60348364C>A - DIAPH3(NM_001042517.1):c.3278G>T (p.S1093I) - DIAPH3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3279T>G r.(?) p.(Ser1093Arg) Unknown - VUS g.60348363A>C - DIAPH3(NM_001042517.1):c.3279T>G (p.S1093R) - DIAPH3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3339G>A r.(?) p.(Leu1113=) Unknown - benign g.60240961C>T g.59666827C>T - - DIAPH3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3345del r.(?) p.(Ser1117HisfsTer24) Unknown - likely pathogenic g.60240956del g.59666822del - - DIAPH3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3346G>A r.(?) p.(Gly1116Arg) Unknown - VUS g.60240954C>T - - - DIAPH3_000037 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3469G>T r.(?) p.(Ala1157Ser) Unknown - VUS g.60240831C>A g.59666697C>A - - DIAPH3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3471G>A r.(?) p.(Ala1157=) Unknown - benign g.60240829C>T g.59666695C>T DIAPH3(NM_001042517.2):c.3471G>A (p.A1157=) - DIAPH3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3471G>A r.(?) p.(Ala1157=) Unknown - benign g.60240829C>T g.59666695C>T DIAPH3(NM_001042517.2):c.3471G>A (p.A1157=) - DIAPH3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3571C>T r.(?) p.(Arg1191Ter) Unknown - VUS g.60240729G>A - DIAPH3(NM_001042517.1):c.3571C>T (p.R1191*) - DIAPH3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*147T>A r.(=) p.(=) Unknown - benign g.60240571A>T g.59666437A>T - - DIAPH3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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