Full data view for gene DEAF1

Information The variants shown are described using the NM_021008.2 transcript reference sequence.

144 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     
+?/. - c.-14563A>C r.(?) p.(=) Unknown - likely pathogenic g.709610T>G g.709610T>G - - DEAF1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-14502C>A r.(?) p.(=) Unknown - likely benign g.709549G>T g.709549G>T EPS8L2(NM_022772.3):c.45-4G>T - DEAF1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-14414dup r.(?) p.(=) Unknown - likely benign g.709463dup g.709463dup EPS8L2(NM_022772.3):c.44+12dupC - DEAF1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1674C>T r.(?) p.(=) Unknown - VUS g.696721G>A - DEAF1(NM_001367390.1):c.-437-5123C>T - DEAF1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1651G>T r.(?) p.(=) Unknown - likely benign g.696698C>A - DEAF1(NM_001367390.1):c.-437-5100G>T - DEAF1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1650_-1645del r.(?) p.(=) Unknown - likely benign g.696692_696697del - DEAF1(NM_001367390.1):c.-437-5099_-437-5094del - DEAF1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-806A>G r.(?) p.(=) Unknown - VUS g.695853T>C g.695853T>C TMEM80(NM_001042463.1):c.94+7T>C (p.(=)) - TMEM80_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-788G>A r.(?) p.(=) Unknown - VUS g.695835C>T g.695835C>T TMEM80(NM_001042463.1):c.83C>T (p.(Ala76Val)) - TMEM80_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-677C>G r.(?) p.(=) Unknown - VUS g.695724G>C g.695724G>C DEAF1(NM_021008.4):c.-677C>G - DEAF1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-634C>T r.(?) p.(=) Unknown - VUS g.695681G>A g.695681G>A TMEM80(NM_001042463.1):c.-72G>A (p.(Ala25Thr)) - DEAF1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.? r.(?) p.(Glu232Glyfs*10) Unknown - VUS g.? - - - DRD4_000002 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K190 PubMed: Heidet 2017 affected patient and 1st degree relative (deafness) - - France - - - - - 2 Johan den Dunnen
-?/. - c.48_92del r.(?) p.(Val19_Ala33del) Unknown - likely benign g.694959_695003del - DEAF1(NM_021008.4):c.48_92del (p.V19_A33del) - DEAF1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.51_92del r.(?) p.(Val19_Ala32del) Unknown - likely benign g.694961_695002del - DEAF1(NM_021008.4):c.51_92del (p.V19_A32del) - DEAF1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.51_92del r.(?) p.(Val19_Ala32del) Unknown - likely benign g.694961_695002del - DEAF1(NM_021008.4):c.51_92del (p.V19_A32del) - DEAF1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.54_92del r.(?) p.(Val19_Ala31del) Unknown - likely benign g.694961_694999del g.694961_694999del DEAF1(NM_021008.2):c.54_92del (p.(Val19_Ala31del)) - DEAF1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.56T>C r.(?) p.(Val19Ala) Unknown - likely benign g.694992A>G - DEAF1(NM_021008.3):c.56T>C (p.V19A) - DEAF1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.60_86del r.(?) p.(Val25_Ala33del) Unknown - VUS g.694965_694991del - DEAF1(NM_021008.4):c.60_86delGGCCGCGGCCGCTGTGGCGGCGGCGGC (p.V25_A33del) - DEAF1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.63_80del r.(?) p.(Val25_Ala30del) Unknown - VUS g.694976_694993del - DEAF1(NM_021008.4):c.63_80del (p.(Val25_Ala30del)) - DEAF1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.69_98del r.(?) p.(Ala24_Ala33del) Unknown - likely benign g.694961_694990del g.694961_694990del DEAF1(NM_021008.4):c.69_98delCGCTGTGGCGGCGGCGGCCGCGGCCGCGGC (p.A24_A33del) - DEAF1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.71_100del r.(?) p.(Ala24_Ala33del) Unknown - likely benign g.694949_694978del - DEAF1(NM_021008.4):c.71_100delCTGTGGCGGCGGCGGCCGCGGCCGCGGCAG (p.A24_A33del) - DEAF1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.72_95del r.(?) p.(Val25_Ala32del) Unknown - likely benign g.694968_694991del g.694968_694991del DEAF1(NM_021008.2):c.72_95del (p.(Val25_Ala32del)) - DEAF1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.74T>G r.(?) p.(Val25Gly) Unknown - VUS g.694974A>C - DEAF1(NM_021008.3):c.74T>G (p.V25G) - DEAF1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.93_98del r.(?) p.(Ala32_Ala33del) Unknown - VUS g.694961_694966del g.694961_694966del DEAF1(NM_021008.2):c.93_98del (p.(Ala32_Ala33del)) - DEAF1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.134A>G r.(?) p.(Asp45Gly) Unknown - VUS g.694914T>C - DEAF1(NM_021008.2):c.134A>G (p.(Asp45Gly)) - DEAF1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.153C>G r.(?) p.(Asp51Glu) Unknown - likely benign g.694895G>C - DEAF1(NM_021008.2):c.153C>G (p.(Asp51Glu)) - DEAF1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162G>C r.(?) p.(=) Unknown - likely benign g.694886C>G - DEAF1(NM_021008.3):c.162G>C (p.S54=) - DEAF1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.251C>G r.(?) p.(Pro84Arg) Unknown - VUS g.694797G>C g.694797G>C DEAF1(NM_021008.2):c.251C>G (p.(Pro84Arg)), DEAF1(NM_021008.3):c.251C>G (p.P84R) - DEAF1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.251C>G r.(?) p.(Pro84Arg) Unknown - VUS g.694797G>C - DEAF1(NM_021008.2):c.251C>G (p.(Pro84Arg)), DEAF1(NM_021008.3):c.251C>G (p.P84R) - DEAF1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.277G>A r.(?) p.(Ala93Thr) Unknown - VUS g.694771C>T g.694771C>T DEAF1(NM_021008.2):c.277G>A (p.(Ala93Thr)) - DEAF1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.289G>A r.(?) p.(Glu97Lys) Unknown - VUS g.694759C>T g.694759C>T DEAF1(NM_021008.3):c.289G>A (p.E97K) - DEAF1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.289_289+3del r.(?) p.(Ala96Argfs*2) Unknown - VUS g.694759_694762del - DEAF1(NM_021008.4):c.289_289+3del - DEAF1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.290-568G>A r.(=) p.(=) Unknown - likely benign g.692166C>T - DEAF1(NM_021008.4):c.290-568G>A - DEAF1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.290-3C>G r.[(290_387del|0.8,289_290ins[gcuccuucuguug;gag]|0.1,=|0.1)] p.? Maternal (confirmed) - VUS g.691601G>C g.691601G>C - - DEAF1_000066 rna effect from mini-gene splicing assay PubMed: Redin 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ID APN-109 PubMed: Redin 2014 2-generation family, affected male, unaffected heterozygous carrier mother M - France - - - - - 1 Johan den Dunnen
?/. - c.398C>T r.(?) p.(Thr133Met) Unknown - VUS g.688450G>A - DEAF1(NM_021008.2):c.398C>T (p.(Thr133Met)) - DEAF1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.472G>A r.(?) p.(Val158Met) Unknown - VUS g.688376C>T g.688376C>T DEAF1(NM_021008.4):c.472G>A (p.V158M) - DEAF1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.517+7C>T r.(=) p.(=) Unknown - likely benign g.688324G>A g.688324G>A DEAF1(NM_021008.3):c.517+7C>T - DEAF1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.523C>G r.(?) p.(Gln175Glu) Unknown - VUS g.688052G>C g.688052G>C DEAF1(NM_021008.3):c.523C>G (p.Q175E) - DEAF1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.578_579insAAAA r.(?) p.(Asn193LysfsTer11) Both (homozygous) - pathogenic g.687996_687997insTTTT - - - DEAF1_000073 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
?/. - c.598G>A r.(?) p.(Asp200Asn) Unknown - VUS g.687977C>T g.687977C>T DEAF1(NM_021008.2):c.598G>A (p.(Asp200Asn)) - DEAF1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.617G>A r.(?) p.(Arg206Gln) Unknown - VUS g.687958C>T - DEAF1(NM_021008.4):c.617G>A (p.(Arg206Gln)) - DEAF1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.634G>A r.(?) p.(Gly212Ser) Unknown ACMG pathogenic (dominant) g.687941C>T g.687941C>T - - DEAF1_000085 ACMG PS1, PS2, PS3, PM2, PP3, PP2 PubMed: Ostrander 2018 - - De novo - - - - - DNA arrayCGH, SEQ, SEQ-NG - WGS EIEE Pat9 PubMed: Ostrander 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - c.634G>T r.(?) p.(Gly212Cys) Unknown - pathogenic g.687941C>A - DEAF1(NM_001293634.1):c.634G>T (p.G212C) - DEAF1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.646A>G r.(?) p.(Lys216Glu) Unknown - pathogenic g.687929T>C g.687929T>C - - DEAF1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.667G>A r.(?) p.(Gly223Ser) Unknown - likely benign g.686995C>T g.686995C>T DEAF1(NM_021008.4):c.667G>A (p.(Gly223Ser)) - DEAF1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.667G>A r.(?) p.(Gly223Ser) Unknown - VUS g.686995C>T - DEAF1(NM_021008.4):c.667G>A (p.(Gly223Ser)) - DEAF1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.670C>T r.(?) p.(Arg224Trp) Unknown - pathogenic g.686992G>A g.686992G>A DEAF1(NM_021008.3):c.670C>T (p.R224W), DEAF1(NM_021008.4):c.670C>T (p.R224W) - DEAF1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.670C>T r.(?) p.(Arg224Trp) Unknown - pathogenic g.686992G>A g.686992G>A DEAF1(NM_021008.3):c.670C>T (p.R224W), DEAF1(NM_021008.4):c.670C>T (p.R224W) - DEAF1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.670C>T r.(?) p.(Arg224Trp) Unknown - pathogenic g.686992G>A - DEAF1(NM_021008.3):c.670C>T (p.R224W), DEAF1(NM_021008.4):c.670C>T (p.R224W) - DEAF1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.671G>A r.(?) p.(Arg224Gln) Unknown - pathogenic g.686991C>T - - - DEAF1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.676C>T r.(?) p.(Arg226Trp) Both (homozygous) ACMG likely pathogenic (recessive) g.686986G>A g.686986G>A - - DEAF1_000067 - PubMed: Helbig 2016 - - Germline - - - - - DNA SEQ-NG - WES seizures Pat31 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.680G>A r.(?) p.(Cys227Tyr) Unknown - likely pathogenic g.686982C>T g.686982C>T - - DEAF1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.683T>G r.(?) p.(Ile228Ser) Unknown - likely pathogenic (dominant) g.686979A>C g.686979A>C - - DEAF1_000001 - PubMed: Vissers 2010, PubMed: Vulto-van Silfhout 2014 - - De novo ? - - - - DNA SEQ - - ID MRtrio5/Pat1 PubMed: Vissers 2010, PubMed: Vulto van Silfhout 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M ? (Netherlands) - - - - - 1 Marianne Vos (LOVD-team)
+?/. - c.702G>A r.(?) p.(Trp234*) Unknown - likely pathogenic g.686960C>T - DEAF1(NM_021008.4):c.702G>A (p.W234*) - DEAF1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.706A>G r.(?) p.(Ser236Gly) Unknown - VUS g.686956T>C - DEAF1(NM_021008.3):c.706A>G (p.S236G) - DEAF1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.727A>G r.(?) p.(Met243Val) Unknown - likely benign g.686935T>C g.686935T>C DEAF1(NM_001367390.1):c.1A>G (p.M1?), DEAF1(NM_021008.3):c.727A>G (p.M243V) - DEAF1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.727A>G r.(?) p.(Met243Val) Unknown - VUS g.686935T>C - DEAF1(NM_001367390.1):c.1A>G (p.M1?), DEAF1(NM_021008.3):c.727A>G (p.M243V) - DEAF1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.727A>G r.(?) p.(Met243Val) Unknown - likely benign g.686935T>C - DEAF1(NM_001367390.1):c.1A>G (p.M1?), DEAF1(NM_021008.3):c.727A>G (p.M243V) - DEAF1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.737G>C r.(?) p.(Arg246Thr) Unknown ACMG pathogenic g.686925C>G g.686925C>G - - DEAF1_000103 - - ClinVar-437396 rs1554944271 Germline yes - - - - DNA SEQ-NG-I peripheral blood CES NDD - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
+?/. - c.762A>C r.(?) p.(Arg254Ser) Unknown - likely pathogenic g.686900T>G g.686900T>G - - DEAF1_000004 - PubMed: Vulto-van Silfhout 2014 - - De novo ? 1/2300 cases - - - DNA SEQ - - ID - PubMed: Vulto van Silfhout 2014 - F ? - Unknown - - - - 1 Marianne Vos (LOVD-team)
+/. - c.762A>C r.(?) p.(Arg254Ser) Unknown - pathogenic g.686900T>G - - - DEAF1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.767T>G r.(?) p.(Ile256Ser) Unknown - likely pathogenic g.686895A>C g.686895A>C DEAF1(NM_021008.2):c.767T>G (p.(Ile256Ser)) - DEAF1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.781C>T r.(?) p.(Arg261Ter) Unknown - likely pathogenic g.686881G>A g.686881G>A DEAF1(NM_021008.2):c.781C>T (p.(Arg261*)) - DEAF1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.781C>T r.(?) p.(Arg261Ter) Unknown - likely pathogenic g.686881G>A - DEAF1(NM_021008.2):c.781C>T (p.(Arg261*)) - DEAF1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.789G>T r.(?) p.(Leu263Phe) Unknown - VUS g.686873C>A - - - DEAF1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.796C>T r.(?) p.(Leu266Phe) Unknown - likely pathogenic g.686866G>A g.686866G>A - - DEAF1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.821C>T r.(?) p.(Pro274Leu) Unknown - VUS g.684947G>A - DEAF1(NM_021008.2):c.821C>T (p.(Pro274Leu)) - DEAF1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.841T>C r.(?) p.(Cys281Arg) Unknown - likely pathogenic g.684927A>G - DEAF1(NM_021008.2):c.841T>C (p.(Cys281Arg)) - DEAF1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.855C>T r.(?) p.(Cys285=) Unknown - likely pathogenic g.684913G>A - DEAF1(NM_001293634.1):c.715C>T (p.R239*) - DEAF1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.907C>T r.(?) p.(Arg303Cys) Unknown - VUS g.681053G>A - DEAF1(NM_021008.2):c.907C>T (p.(Arg303Cys)) - DEAF1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.979G>A r.(?) p.(Ala327Thr) Unknown - VUS g.680981C>T - DEAF1(NM_021008.4):c.979G>A (p.(Ala327Thr)) - DEAF1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.986C>T r.(?) p.(Ala329Val) Unknown - VUS g.680974G>A - - - DEAF1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.997+4A>C r.spl p.? Both (homozygous) ACMG pathogenic g.680959T>G g.680959T>G - - DEAF1_000005 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - VSVS;MRD24 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+?/. - c.997+4A>C r.spl? p.? Both (homozygous) - likely pathogenic (recessive) g.680959T>G g.680959T>G - - DEAF1_000005 - PubMed: Al-Kasbi 2022 VCV000267316.3 rs886040972 Germline - - - - - DNA SEQ, SEQ-NG - WES ID 10DK7400 PubMed: Al-Kasbi 2022 patient, other affecteds in family M - Oman - - - - - 1 Johan den Dunnen
-?/. - c.997+422G>T r.(=) p.(=) Unknown - likely benign g.680541C>A - DEAF1(NM_021008.4):c.997+422G>T - DEAF1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1007C>A r.(?) p.(Thr336Asn) Unknown - VUS g.679807G>T g.679807G>T DEAF1(NM_021008.3):c.1007C>A (p.T336N) - DEAF1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1051C>T r.(?) p.(Arg351*) Unknown - VUS g.679763G>A - - - DEAF1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1090_1091del r.(?) p.(Pro365Glyfs*26) Unknown - VUS g.679727_679728del - DEAF1(NM_021008.2):c.1090_1091delAG (p.(Pro365fs)) - DEAF1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1108G>A r.(?) p.(Val370Ile) Unknown - VUS g.679706C>T g.679706C>T DEAF1(NM_021008.3):c.1108G>A (p.V370I), DEAF1(NM_021008.4):c.1108G>A (p.(Val370Ile)) - DEAF1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1108G>A r.(?) p.(Val370Ile) Unknown - VUS g.679706C>T - DEAF1(NM_021008.3):c.1108G>A (p.V370I), DEAF1(NM_021008.4):c.1108G>A (p.(Val370Ile)) - DEAF1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1126+1G>A r.spl? p.? Unknown - likely pathogenic g.679687C>T - DEAF1(NM_021008.3):c.1126+1G>A - DEAF1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1151C>T r.(?) p.(Pro384Leu) Unknown - VUS g.678798G>A g.678798G>A DEAF1(NM_021008.2):c.1151C>T (p.(Pro384Leu)) - DEAF1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1186G>A r.(?) p.(Gly396Ser) Unknown - likely benign g.678763C>T g.678763C>T DEAF1(NM_021008.3):c.1186G>A (p.G396S) - DEAF1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.1187G>T r.(?) p.(Gly396Val) Unknown - VUS g.678762C>A g.678762C>A - - DEAF1_000074 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-1593 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.1195G>C r.(?) p.(Asp399His) Unknown - VUS g.678754C>G - DEAF1(NM_021008.2):c.1195G>C (p.(Asp399His)) - DEAF1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1255+3A>G r.spl? p.? Unknown - VUS g.678691T>C - DEAF1(NM_021008.4):c.1255+3A>G - DEAF1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1357T>G r.(?) p.(Trp453Gly) Unknown - VUS g.674682A>C g.674682A>C DEAF1(NM_021008.3):c.1357T>G (p.W453G) - DEAF1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1451G>T r.(?) p.(Arg484Leu) Unknown - VUS g.674588C>A - DEAF1(NM_021008.4):c.1451G>T (p.(Arg484Leu)) - DEAF1_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1503+10G>A r.(=) p.(=) Unknown - likely benign g.674526C>T - DEAF1(NM_021008.4):c.1503+10G>A - DEAF1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1503+7644T>C r.(=) p.(=) Unknown - likely benign g.666892A>G - DEAF1(NM_021008.4):c.1503+7644T>C - DEAF1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1504-590C>T r.(=) p.(=) Unknown - VUS g.654641G>A - DEAF1(NM_001293634.1):c.1252C>T (p.(Arg418Trp)) - DEAF1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1504-554G>A r.(=) p.(=) Unknown - likely benign g.654605C>T - DEAF1(NM_001293634.1):c.1278+10G>A - DEAF1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1535T>C r.(?) p.(Met512Thr) Unknown - VUS g.654020A>G - - - DEAF1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1547C>A r.(?) p.(Thr516Asn) Unknown - VUS g.654008G>T g.654008G>T - - DEAF1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1615A>G r.(?) p.(Ile539Val) Unknown - VUS g.644633T>C - DEAF1(NM_021008.4):c.1615A>G (p.(Ile539Val)) - DEAF1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1634C>G r.(?) p.(Ala545Gly) Unknown - benign g.644614G>C g.644614G>C DEAF1(NM_021008.2):c.1634C>G (p.(Ala545Gly)), DEAF1(NM_021008.3):c.1634C>G (p.A545G) - DEAF1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1634C>G r.(?) p.(Ala545Gly) Unknown - likely benign g.644614G>C g.644614G>C DEAF1(NM_021008.2):c.1634C>G (p.(Ala545Gly)), DEAF1(NM_021008.3):c.1634C>G (p.A545G) - DEAF1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1651G>C r.(?) p.(Asp551His) Unknown - VUS g.644597C>G - DEAF1(NM_021008.4):c.1651G>C (p.D551H) - DEAF1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1658T>G r.(?) p.(Val553Gly) Unknown - VUS g.644590A>C g.644590A>C DEAF1(NM_021008.2):c.1658T>G (p.(Val553Gly)) - DEAF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4048A>C r.(=) p.(=) Unknown - VUS g.640502T>G g.640502T>G DRD4(NM_000797.3):c.1159T>G (p.(Trp387Gly)) - DRD4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4245G>C r.(=) p.(=) Unknown - likely benign g.640305C>G - DRD4(NM_000797.4):c.1056C>G (p.(Val352=)) - DEAF1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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