Full data view for gene EPS8L2

Information The variants shown are described using the NM_022772.3 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     
?/. - c.-11608C>T r.(?) p.(=) 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.-11608_-11605del r.(?) p.(=) Unknown - VUS g.694759_694762del - DEAF1(NM_021008.4):c.289_289+3del - DEAF1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-11596C>T r.(?) p.(=) 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.-11570G>C r.(?) p.(=) 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.-11570G>C r.(?) p.(=) 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.-11481C>G 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.-11472G>C r.(?) p.(=) 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.-11453T>C r.(?) p.(=) Unknown - VUS g.694914T>C - DEAF1(NM_021008.2):c.134A>G (p.(Asp45Gly)) - DEAF1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-11418_-11389del r.(?) p.(=) 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.-11408_-11364del r.(?) p.(=) 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.-11406_-11401del r.(?) p.(=) 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.-11406_-11377del r.(?) p.(=) 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.-11406_-11368del r.(?) p.(=) 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.-11406_-11365del r.(?) p.(=) 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.-11406_-11365del r.(?) p.(=) 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.-11402_-11376del r.(?) p.(=) 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.-11399_-11376del r.(?) p.(=) 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.-11393A>C r.(?) p.(=) Unknown - VUS g.694974A>C - DEAF1(NM_021008.3):c.74T>G (p.V25G) - DEAF1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-11391_-11374del r.(?) p.(=) 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.-11375A>G r.(?) p.(=) 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.-10686G>A 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.-10643G>C 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.-10532C>T 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.-10514T>C 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.-9675_-9670del 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.-9669C>A 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.-9646G>A 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.44+12dup 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.45-4G>T r.spl? 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.100+2T>G r.spl? p.? Unknown - likely pathogenic g.709610T>G g.709610T>G - - DEAF1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.443C>T r.(?) p.(Pro148Leu) Unknown - VUS g.720712C>T g.720712C>T EPS8L2(NM_022772.3):c.443C>T (p.P148L) - EPS8L2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.616G>T r.(?) p.(Ala206Ser) Unknown - likely benign g.721122G>T g.721122G>T EPS8L2(NM_022772.3):c.616G>T (p.A206S) - EPS8L2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.761A>C r.(?) p.(Lys254Thr) Unknown - VUS g.721345A>C - EPS8L2(NM_022772.4):c.761A>C (p.(Lys254Thr)) - EPS8L2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.832G>A r.(?) p.(Glu278Lys) Unknown - VUS g.721628G>A g.721628G>A EPS8L2(NM_022772.3):c.832G>A (p.E278K) - EPS8L2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.881_891del r.(?) p.(Lys294SerfsTer14) Unknown ACMG likely pathogenic g.721677_721687del g.721677_721687del 879_889del - EPS8L2_000022 ACMG PVS1, PM2; not in 142 controls PubMed: Horbacz 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES scoliosis Pat46 PubMed: Horbacz 2025 patient, affected maternal grandmother F - Poland - - - - - 1 Johan den Dunnen
?/. - c.902T>A r.(?) p.(Val301Asp) Unknown - VUS g.721909T>A - EPS8L2(NM_022772.3):c.902T>A (p.V301D) - EPS8L2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.903C>A r.(?) p.(Val301=) Unknown - VUS g.721910C>A - EPS8L2(NM_022772.3):c.903C>A (p.V301=) - EPS8L2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1059+4C>T r.spl? p.? Unknown - VUS g.722169C>T g.722169C>T EPS8L2(NM_022772.3):c.1059+4C>T - EPS8L2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 12i c.1059+4C>T r.985_1059del p.Ala329_Leu353del Unknown - likely pathogenic g.722169C>T g.722169C>T - - EPS8L2_000008 effect on RNA exon skipping - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG fibroblasts mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
?/. - c.1064T>G r.(?) p.(Val355Gly) Unknown - VUS g.722405T>G - EPS8L2(NM_022772.3):c.1064T>G (p.V355G) - EPS8L2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1072_1074dup r.(?) p.(Cys358dup) Unknown - VUS g.722413_722415dup - EPS8L2(NM_022772.3):c.1072_1074dupTGC (p.C358dup) - EPS8L2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1093C>T r.(?) p.(Arg365Cys) Unknown - VUS g.722434C>T - EPS8L2(NM_022772.4):c.1093C>T (p.(Arg365Cys)) - EPS8L2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1208G>T r.(?) p.(Arg403Leu) Unknown - VUS g.722549G>T g.722549G>T EPS8L2(NM_022772.3):c.1208G>T (p.R403L) - EPS8L2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 13 c.1208G>T r.1060_1208del p.Ile345PhefsTer99 Unknown - likely pathogenic g.722549G>T g.722549G>T - - EPS8L2_000009 effect on RNA exon skipping - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG fibroblasts mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
-?/. - c.1233G>C r.(?) p.(Gln411His) Unknown - likely benign g.722697G>C g.722697G>C EPS8L2(NM_022772.3):c.1233G>C (p.Q411H) - EPS8L2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1304G>A r,(?) p.(Trp435Ter) Parent #1 - pathogenic (recessive) g.722768G>A g.722768G>A - - EPS8L2_000020 combination of alleles not reported PubMed: Wu 2019 - - Germline - 2/1291 cases hearing loss - - - DNA SEQ, SEQ-NG - 213-gene panel HL - PubMed: Wu 2019 analysis 1291 cases hearing loss - - Taiwan - - - - - 2 Johan den Dunnen
-?/. - c.1410C>G r.(?) p.(Pro470=) Unknown - likely benign g.723309C>G g.723309C>G EPS8L2(NM_022772.3):c.1410C>G (p.P470=) - EPS8L2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 15 c.1430dup r.(?) p.(Val478Serfs*25) Unknown - pathogenic g.723329dup g.723329dup 1430dupC - EPS8L2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - - Germline/De novo (untested) - - - - - DNA QMPSF, SEQ, SEQ-NG-I - gene panel, Quantitative Multiplex PCR of Short Fluorescent fragments deafness S1812 PubMed: Baux 2017, Journal: Baux 2017 Proband M ? France - - - - - 1 David Baux
+/. - c.1430dup r.(?) p.(Val478SerfsTer25) Unknown - pathogenic g.723329dup - - - EPS8L2_000001 - - - rs758700198 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1584G>C r.(?) p.(Trp528Cys) Unknown - VUS g.725751G>C g.725751G>C EPS8L2(NM_022772.3):c.1584G>C (p.W528C) - EPS8L2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1584G>C r.(?) p.(Trp528Cys) Unknown - VUS g.725751G>C - EPS8L2(NM_022772.3):c.1584G>C (p.W528C) - EPS8L2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1665dup r.(?) p.(Ala556ArgfsTer215) Unknown - pathogenic g.725832dup g.725832dup EPS8L2(NM_022772.3):c.1665dupC (p.A556Rfs*215) - EPS8L2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1681-8C>T r.(=) p.(=) Unknown - likely benign g.726090C>T - EPS8L2(NM_022772.3):c.1681-8C>T - EPS8L2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1839C>T r.(?) p.(Arg613=) Unknown - likely benign g.726389C>T g.726389C>T EPS8L2(NM_022772.3):c.1839C>T (p.R613=) - EPS8L2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1992G>A r.(?) p.(Glu664=) Unknown - likely benign g.726676G>A g.726676G>A EPS8L2(NM_022772.3):c.1992G>A (p.E664=) - EPS8L2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2145C>G r.(?) p.(Ser715Arg) Unknown - likely benign g.726978C>G g.726978C>G EPS8L2(NM_022772.3):c.2145C>G (p.S715R) - EPS8L2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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