Full data view for gene EPS8

Information The variants shown are described using the NM_004447.5 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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.60-15_60-4dup r.spl? p.? Unknown - likely benign g.15834260_15834271dup - EPS8(NM_004447.5):c.60-15_60-4dupTTATTATTATTA - EPS8_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.60-9_60-4dup r.spl? p.? Unknown - benign g.15834266_15834271dup g.15681332_15681337dup EPS8(NM_004447.5):c.60-12_60-7dupTTATTA - EPS8_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.60-9_60-4dup r.spl? p.? Unknown - benign g.15834266_15834271dup - EPS8(NM_004447.6):c.60-12_60-7dupTTATTA - EPS8_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.88C>T r.(?) p.(Gln30*) Parent #1 - pathogenic g.15834208G>A g.15681274G>A - - EPS8_000019 - MORL Deafness Variation Database, PubMed: Behlouli 2014 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Behlouli 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.197G>A r.(?) p.(Arg66His) Unknown - likely benign g.15823797C>T g.15670863C>T EPS8(NM_004447.5):c.197G>A (p.R66H) - EPS8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.204+1G>A r.spl p.? Both (homozygous) ACMG likely pathogenic (recessive) g.15823789C>T g.15670855C>T - - EPS8_000028 - - - - Germline yes - - - - DNA SEQ-NG-I - - DFNB - - - - yes Pakistan - - - - - 1 Hina Khan
+/. - c.205-8A>G r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.15822767T>C g.15669833T>C - - EPS8_000027 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4134 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
-?/. - c.855A>C r.(?) p.(Thr285=) Unknown - likely benign g.15813630T>G g.15660696T>G EPS8(NM_004447.5):c.855A>C (p.T285=) - EPS8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1083G>A r.(?) p.(Leu361=) Unknown - likely benign g.15811031C>T g.15658097C>T EPS8(NM_004447.5):c.1083G>A (p.L361=) - EPS8_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1184A>T r.(?) p.(Asn395Ile) Unknown - VUS g.15807145T>A - EPS8(NM_004447.5):c.1184A>T (p.N395I) - EPS8_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1200T>C r.(?) p.(Gly400=) Unknown - likely benign g.15807129A>G g.15654195A>G EPS8(NM_004447.5):c.1200T>C (p.G400=) - EPS8_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1287T>C r.(=) p.(=) Parent #1 - benign g.15803904A>G g.15650970A>G - - EPS8_000021 76 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs33956726 Germline - 76/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 76 Mohammed Faruq
-/. - c.1287T>C r.(=) p.(=) Both (homozygous) - benign g.15803904A>G g.15650970A>G - - EPS8_000021 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs33956726 Germline - 3/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
?/. - c.1300C>T r.(?) p.(Arg434Cys) Unknown - VUS g.15803891G>A g.15650957G>A EPS8(NM_004447.5):c.1300C>T (p.R434C) - EPS8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1330T>C r.(?) p.(Phe444Leu) Unknown - likely benign g.15803861A>G g.15650927A>G EPS8(NM_004447.5):c.1330T>C (p.F444L) - EPS8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1333A>G r.(?) p.(Met445Val) Unknown - VUS g.15803858T>C g.15650924T>C EPS8(NM_004447.5):c.1333A>G (p.M445V) - EPS8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1423T>C r.(?) p.(Leu475=) Unknown - likely benign g.15803768A>G g.15650834A>G EPS8(NM_004447.5):c.1423T>C (p.L475=) - EPS8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1465G>A r.(?) p.(Asp489Asn) Unknown - likely benign g.15800164C>T g.15647230C>T EPS8(NM_004447.5):c.1465G>A (p.D489N) - EPS8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1465G>A r.(?) p.(Asp489Asn) Unknown - VUS g.15800164C>T - EPS8(NM_004447.5):c.1465G>A (p.D489N) - EPS8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1537T>C r.(?) p.(Phe513Leu) Unknown - VUS g.15800092A>G g.15647158A>G EPS8(NM_004447.5):c.1537T>C (p.F513L) - EPS8_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1555C>T r.(?) p.(Arg519Cys) Parent #1 - likely benign g.15800074G>A g.15647140G>A - - EPS8_000020 71 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs76688635 Germline - 71/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 71 Mohammed Faruq
-?/. - c.1555C>T r.(?) p.(Arg519Cys) Both (homozygous) - likely benign g.15800074G>A g.15647140G>A - - EPS8_000020 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs76688635 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.1638C>T r.(?) p.(Asn546=) Unknown - likely benign g.15794695G>A g.15641761G>A EPS8(NM_004447.5):c.1638C>T (p.N546=) - EPS8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1653G>A r.(?) p.(Ser551=) Unknown - benign g.15794680C>T g.15641746C>T EPS8(NM_004447.5):c.1653G>A (p.S551=) - EPS8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1773A>G r.(?) p.(Pro591=) Unknown - likely benign g.15793685T>C g.15640751T>C EPS8(NM_004447.5):c.1773A>G (p.P591=) - EPS8_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1788G>T r.(?) p.(Gly596=) Unknown - likely benign g.15793670C>A - EPS8(NM_004447.5):c.1788G>T (p.G596=) - EPS8_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1822A>C r.(?) p.(Lys608Gln) Unknown - VUS g.15784598T>G g.15631664T>G EPS8(NM_004447.5):c.1822A>C (p.K608Q) - EPS8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1822A>C r.(?) p.(Lys608Gln) Parent #1 - VUS g.15784598T>G g.15631664T>G - - EPS8_000005 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200844984 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.1876C>A r.(?) p.(Pro626Thr) Unknown - VUS g.15784544G>T g.15631610G>T EPS8(NM_004447.5):c.1876C>A (p.P626T) - EPS8_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2099T>C r.(?) p.(Ile700Thr) Unknown - VUS g.15777287A>G g.15624353A>G EPS8(NM_004447.5):c.2099T>C (p.I700T) - EPS8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2230G>A r.(?) p.(Val744Ile) Unknown - likely benign g.15776217C>T - EPS8(NM_004447.5):c.2230G>A (p.V744I) - EPS8_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2283T>G r.(?) p.(Asp761Glu) Both (homozygous) - benign g.15776164A>C g.15623230A>C - - EPS8_000015 - PubMed: Escoffier 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES SPGF Fam PubMed: Escoffier 2016 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents (first-cousin)/relatives M yes Tunisia - - - - - 1 Johan den Dunnen
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