Full data view for gene ERCC5

Information The variants shown are described using the NM_000123.2 transcript reference sequence.

135 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.26T>C r.(?) p.(Leu9Pro) Unknown - likely pathogenic g.103498642T>C - - - ERCC5_000075 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.50del r.(?) p.(Val17AlafsTer19) Unknown - pathogenic g.103498666del g.102846316del ERCC5(NM_000123.4):c.50delT (p.V17Afs*19) - ERCC5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.56C>T r.(?) p.(Pro19Leu) Unknown - VUS g.103498672C>T g.102846322C>T ERCC5(NM_000123.4):c.56C>T (p.P19L) - ERCC5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.73A>G r.(?) p.(Lys25Glu) Unknown - VUS g.103498689A>G g.102846339A>G ERCC5(NM_000123.3):c.73A>G (p.K25E) - ERCC5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.76A>G r.(?) p.(Ile26Val) Unknown - likely benign g.103498692A>G g.102846342A>G ERCC5(NM_000123.3):c.76A>G (p.I26V) - ERCC5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.83C>A r.(?) p.(Ala28Asp) Paternal (inferred) - pathogenic g.103498699C>A g.102846349C>A - - ERCC5_000002 - - - - Germline - - - - - DNA, RNA SEQ - - XP - - - F no Brazil - - - - - 1 Tiago de Souza
+/. 1 c.83C>A r.(?) p.(Ala28Asp) Paternal (inferred) - pathogenic g.103498699C>A g.102846349C>A - - ERCC5_000002 - - - - Germline - - - - - DNA, RNA SEQ - - XP - - - M no Brazil - - - - - 1 Tiago de Souza
-?/. - c.134G>A r.(?) p.(Arg45His) Unknown - likely benign g.103504513G>A - ERCC5(NM_000123.3):c.134G>A (p.R45H) - BIVM_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.136del r.(?) p.(His46Metfs*5) Both (homozygous) - pathogenic (recessive) g.103504515del g.102852165del 136delC - ERCC5_000066 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP104BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
-/. - c.138T>C r.(?) p.(His46=) Unknown - benign g.103504517T>C g.102852167T>C BIVM-ERCC5(NM_001204425.2):c.1500T>C (p.H500=), ERCC5(NM_000123.3):c.138T>C (p.H46=), ERCC5(NM_000123.4):c.138T>C (p.H46=) - ERCC5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.138T>C r.(?) p.(His46=) Unknown - benign g.103504517T>C g.102852167T>C BIVM-ERCC5(NM_001204425.2):c.1500T>C (p.H500=), ERCC5(NM_000123.3):c.138T>C (p.H46=), ERCC5(NM_000123.4):c.138T>C (p.H46=) - ERCC5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.170C>T r.(?) p.(Thr57Ile) Unknown - VUS g.103504549C>T g.102852199C>T ERCC5(NM_000123.3):c.170C>T (p.T57I) - BIVM_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.264+1del r.spl p.? Both (homozygous) - pathogenic (recessive) g.103504644del g.102852294del 264+1delG - ERCC5_000067 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP55BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Somalia - - - - 1 Johan den Dunnen
+/. - c.264+1del r.spl p.? Both (homozygous) - pathogenic (recessive) g.103504644del g.102852294del 264+1delG - ERCC5_000067 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP56BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Somalia - - - - 1 Johan den Dunnen
-/. - c.264+7G>A r.(=) p.(=) Unknown - benign g.103504650G>A g.102852300G>A ERCC5(NM_000123.3):c.264+7G>A - ERCC5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.330G>A r.(?) p.(Leu110=) Unknown - likely benign g.103506172G>A g.102853822G>A ERCC5(NM_000123.3):c.330G>A (p.L110=) - ERCC5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.378A>G r.(?) p.(Lys126=) Unknown - likely benign g.103506220A>G g.102853870A>G ERCC5(NM_000123.4):c.378A>G (p.K126=) - ERCC5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.413G>A r.(?) p.(Arg138Gln) Unknown - likely benign g.103506670G>A g.102854320G>A ERCC5(NM_000123.3):c.413G>A (p.R138Q) - BIVM_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.429C>G r.(?) p.(Leu143=) Unknown - benign g.103506686C>G g.102854336C>G ERCC5(NM_000123.3):c.429C>G (p.L143=), ERCC5(NM_000123.4):c.429C>G (p.L143=) - ERCC5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.429C>G r.(?) p.(Leu143=) Unknown - benign g.103506686C>G g.102854336C>G ERCC5(NM_000123.3):c.429C>G (p.L143=), ERCC5(NM_000123.4):c.429C>G (p.L143=) - ERCC5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.542A>G r.(?) p.(His181Arg) Unknown - likely benign g.103510638A>G - ERCC5(NM_000123.3):c.542A>G (p.H181R) - BIVM_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.550C>G r.(?) p.(Gln184Glu) Unknown - VUS g.103510646C>G g.102858296C>G BIVM-ERCC5(NM_001204425.1):c.1912C>G (p.(Gln638Glu)) - ERCC5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.592C>A r.(?) p.(Pro198Thr) Unknown - likely benign g.103510688C>A g.102858338C>A ERCC5(NM_000123.3):c.592C>A (p.P198T) - ERCC5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.592C>G r.(?) p.(Pro198Ala) Unknown - likely benign g.103510688C>G g.102858338C>G ERCC5(NM_000123.3):c.592C>G (p.P198A), ERCC5(NM_000123.4):c.592C>G (p.P198A) - BIVM_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.592C>G r.(?) p.(Pro198Ala) Unknown - VUS g.103510688C>G - ERCC5(NM_000123.3):c.592C>G (p.P198A), ERCC5(NM_000123.4):c.592C>G (p.P198A) - BIVM_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.593C>T r.(?) p.(Pro198Leu) Unknown - likely benign g.103510689C>T g.102858339C>T ERCC5(NM_000123.3):c.593C>T (p.P198L) - BIVM_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.640C>T r.(?) p.(Arg214Cys) Unknown - VUS g.103510736C>T g.102858386C>T ERCC5(NM_000123.3):c.640C>T (p.R214C), ERCC5(NM_000123.4):c.640C>T (p.R214C) - BIVM_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.640C>T r.(?) p.(Arg214Cys) Unknown - benign g.103510736C>T g.102858386C>T ERCC5(NM_000123.3):c.640C>T (p.R214C), ERCC5(NM_000123.4):c.640C>T (p.R214C) - BIVM_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.641G>A r.(?) p.(Arg214His) Unknown - benign g.103510737G>A g.102858387G>A ERCC5(NM_000123.3):c.641G>A (p.R214H) - ERCC5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.672+533T>C r.(=) p.(=) Unknown - benign g.103511301T>C g.102858951T>C BIVM-ERCC5(NM_001204425.2):c.2034+533T>C, ERCC5(NM_000123.4):c.672+533T>C - ERCC5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.697_700del r.(?) p.(Gln233SerfsTer10) Unknown - pathogenic g.103513881_103513884del - - - ERCC5_000076 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.760A>G r.(?) p.(Met254Val) Unknown - benign g.103513944A>G g.102861594A>G ERCC5(NM_000123.3):c.760A>G (p.M254V), ERCC5(NM_000123.4):c.760A>G (p.M254V) - ERCC5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.760A>G r.(?) p.(Met254Val) Unknown - benign g.103513944A>G g.102861594A>G ERCC5(NM_000123.3):c.760A>G (p.M254V), ERCC5(NM_000123.4):c.760A>G (p.M254V) - ERCC5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.760A>G r.(?) p.(Met254Val) Parent #1 - likely benign g.103513944A>G g.102861594A>G - - ERCC5_000016 181 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1047769 Germline - 181/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 181 Mohammed Faruq
-?/. - c.760A>G r.(?) p.(Met254Val) Both (homozygous) - likely benign g.103513944A>G g.102861594A>G - - ERCC5_000016 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1047769 Germline - 3/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-/. - c.767A>G r.(?) p.(Gln256Arg) Unknown - benign g.103513951A>G g.102861601A>G ERCC5(NM_000123.3):c.767A>G (p.Q256R), ERCC5(NM_000123.4):c.767A>G (p.Q256R) - ERCC5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.767A>G r.(?) p.(Gln256Arg) Unknown - likely benign g.103513951A>G g.102861601A>G ERCC5(NM_000123.3):c.767A>G (p.Q256R), ERCC5(NM_000123.4):c.767A>G (p.Q256R) - ERCC5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.787C>T r.(?) p.(Arg263*) Unknown - VUS g.103513971C>T g.102861621C>T - - ERCC5_000063 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.788G>A r.(?) p.(Arg263Gln) Unknown - likely benign g.103513972G>A g.102861622G>A ERCC5(NM_000123.3):c.788G>A (p.R263Q) - ERCC5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.869T>A r.(?) p.(Ile290Asn) Both (homozygous) - pathogenic (recessive) g.103514053T>A g.102861703T>A - - ERCC5_000068 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP101BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
?/. - c.926C>T r.(?) p.(Pro309Leu) Unknown - VUS g.103514425C>T g.102862075C>T ERCC5(NM_000123.3):c.926C>T (p.P309L) - BIVM_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.932C>G r.(?) p.(Ser311Cys) Unknown - VUS g.103514431C>G g.102862081C>G BIVM-ERCC5(NM_001204425.1):c.2294C>G (p.(Ser765Cys)) - ERCC5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.945C>T r.(?) p.(His315=) Unknown - likely benign g.103514444C>T g.102862094C>T ERCC5(NM_000123.3):c.945C>T (p.H315=), ERCC5(NM_000123.4):c.945C>T (p.H315=) - ERCC5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.945C>T r.(?) p.(His315=) Unknown - likely benign g.103514444C>T g.102862094C>T ERCC5(NM_000123.3):c.945C>T (p.H315=), ERCC5(NM_000123.4):c.945C>T (p.H315=) - ERCC5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.960C>T r.(?) p.(Asp320=) Unknown - benign g.103514459C>T g.102862109C>T ERCC5(NM_000123.3):c.960C>T (p.D320=), ERCC5(NM_000123.4):c.960C>T (p.D320=) - ERCC5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.960C>T r.(?) p.(Asp320=) Unknown - likely benign g.103514459C>T g.102862109C>T ERCC5(NM_000123.3):c.960C>T (p.D320=), ERCC5(NM_000123.4):c.960C>T (p.D320=) - ERCC5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1109G>A r.(?) p.(Arg370His) Unknown - likely benign g.103514608G>A - ERCC5(NM_000123.3):c.1109G>A (p.R370H) - ERCC5_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1110T>A r.(?) p.(Arg370=) Unknown - likely benign g.103514609T>A g.102862259T>A ERCC5(NM_000123.3):c.1110T>A (p.R370=), ERCC5(NM_000123.4):c.1110T>A (p.R370=) - ERCC5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1110T>A r.(?) p.(Arg370=) Unknown - likely benign g.103514609T>A g.102862259T>A ERCC5(NM_000123.3):c.1110T>A (p.R370=), ERCC5(NM_000123.4):c.1110T>A (p.R370=) - ERCC5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1147A>G r.(?) p.(Ile383Val) Unknown - likely benign g.103514646A>G g.102862296A>G ERCC5(NM_000123.4):c.1147A>G (p.I383V) - ERCC5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1225G>A r.(?) p.(Val409Met) Unknown - likely benign g.103514724G>A g.102862374G>A ERCC5(NM_000123.3):c.1225G>A (p.V409M) - BIVM_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1259G>A r.(?) p.(Arg420His) Unknown - likely benign g.103514758G>A g.102862408G>A ERCC5(NM_000123.3):c.1259G>A (p.R420H), ERCC5(NM_000123.4):c.1259G>A (p.R420H) - ERCC5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1259G>A r.(?) p.(Arg420His) Unknown - likely benign g.103514758G>A g.102862408G>A ERCC5(NM_000123.3):c.1259G>A (p.R420H), ERCC5(NM_000123.4):c.1259G>A (p.R420H) - ERCC5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1287T>C r.(?) p.(Asp429=) Unknown - likely benign g.103514786T>C g.102862436T>C ERCC5(NM_000123.3):c.1287T>C (p.D429=) - BIVM_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1328C>G r.(?) p.(Thr443Ser) Unknown - likely benign g.103514827C>G g.102862477C>G ERCC5(NM_000123.3):c.1328C>G (p.T443S) - ERCC5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1440C>T r.(?) p.(His480=) Unknown - benign g.103514939C>T g.102862589C>T ERCC5(NM_000123.3):c.1440C>T (p.H480=), ERCC5(NM_000123.4):c.1440C>T (p.H480=) - ERCC5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1440C>T r.(?) p.(His480=) Unknown - benign g.103514939C>T g.102862589C>T ERCC5(NM_000123.3):c.1440C>T (p.H480=), ERCC5(NM_000123.4):c.1440C>T (p.H480=) - ERCC5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1499G>A r.(?) p.(Arg500Gln) Unknown - likely benign g.103514998G>A - ERCC5(NM_000123.3):c.1499G>A (p.R500Q) - BIVM_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1538C>G r.(?) p.(Ala513Gly) Unknown - likely benign g.103515037C>G g.102862687C>G BIVM-ERCC5(NM_001204425.1):c.2900C>G (p.(Ala967Gly)) - ERCC5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1557A>C r.(?) p.(Gly519=) Unknown - likely benign g.103515056A>C g.102862706A>C ERCC5(NM_000123.3):c.1557A>C (p.G519=) - BIVM_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1586G>C r.(?) p.(Cys529Ser) Unknown - benign g.103515085G>C g.102862735G>C BIVM-ERCC5(NM_001204425.1):c.2948G>C (p.(Cys983Ser)), ERCC5(NM_000123.3):c.1586G>C (p.C529S), ERCC5(NM_000123.4):c.1586G>C (p.C529S) - ERCC5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1586G>C r.(?) p.(Cys529Ser) Unknown - benign g.103515085G>C g.102862735G>C BIVM-ERCC5(NM_001204425.1):c.2948G>C (p.(Cys983Ser)), ERCC5(NM_000123.3):c.1586G>C (p.C529S), ERCC5(NM_000123.4):c.1586G>C (p.C529S) - ERCC5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1586G>C r.(?) p.(Cys529Ser) Unknown - benign g.103515085G>C g.102862735G>C BIVM-ERCC5(NM_001204425.1):c.2948G>C (p.(Cys983Ser)), ERCC5(NM_000123.3):c.1586G>C (p.C529S), ERCC5(NM_000123.4):c.1586G>C (p.C529S) - ERCC5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1694A>G r.(?) p.(Asp565Gly) Unknown - likely benign g.103515193A>G g.102862843A>G ERCC5(NM_000123.4):c.1694A>G (p.D565G) - ERCC5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1738C>G r.(?) p.(Pro580Ala) Unknown - likely benign g.103515237C>G g.102862887C>G ERCC5(NM_000123.3):c.1738C>G (p.P580A) - BIVM_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1753G>T r.(?) p.(Glu585*) Parent #2 - pathogenic (recessive) g.103515252G>T g.102862902G>T - - ERCC5_000069 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP120BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.1753G>T r.(?) p.(Glu585*) Parent #2 - pathogenic (recessive) g.103515252G>T g.102862902G>T - - ERCC5_000069 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP119BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
-?/. - c.1768G>A r.(?) p.(Val590Ile) Unknown - likely benign g.103515267G>A g.102862917G>A ERCC5(NM_000123.3):c.1768G>A (p.V590I), ERCC5(NM_000123.4):c.1768G>A (p.V590I) - ERCC5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1768G>A r.(?) p.(Val590Ile) Unknown - likely benign g.103515267G>A g.102862917G>A ERCC5(NM_000123.3):c.1768G>A (p.V590I), ERCC5(NM_000123.4):c.1768G>A (p.V590I) - ERCC5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1789G>C r.(?) p.(Val597Leu) Unknown - likely benign g.103515288G>C g.102862938G>C ERCC5(NM_000123.3):c.1789G>C (p.V597L), ERCC5(NM_000123.4):c.1789G>C (p.V597L) - ERCC5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1789G>C r.(?) p.(Val597Leu) Unknown - likely benign g.103515288G>C g.102862938G>C ERCC5(NM_000123.3):c.1789G>C (p.V597L), ERCC5(NM_000123.4):c.1789G>C (p.V597L) - ERCC5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1842del r.(?) p.(Leu615Trpfs*17) Parent #2 - pathogenic (recessive) g.103515341del g.102862991del 1842delT - ERCC5_000070 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP118BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
?/. - c.1880C>A r.(?) p.(Ala627Glu) Unknown - VUS g.103515379C>A g.102863029C>A ERCC5(NM_000123.3):c.1880C>A (p.A627E) - ERCC5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1911C>T r.(?) p.(Ala637=) Unknown - likely benign g.103515410C>T g.102863060C>T ERCC5(NM_000123.3):c.1911C>T (p.A637=) - BIVM_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2042G>T r.(?) p.(Gly681Val) Unknown - likely benign g.103518104G>T g.102865754G>T ERCC5(NM_000123.4):c.2042G>T (p.G681V) - ERCC5_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2100C>A r.(?) p.(Leu700=) Unknown - benign g.103518162C>A g.102865812C>A ERCC5(NM_000123.4):c.2100C>A (p.L700=) - ERCC5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2108A>G r.(?) p.(Asp703Gly) Unknown - likely benign g.103518170A>G - ERCC5(NM_000123.3):c.2108A>G (p.D703G) - BIVM_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2163G>A r.(?) p.(Ala721=) Unknown - likely benign g.103518225G>A g.102865875G>A ERCC5(NM_000123.3):c.2163G>A (p.A721=) - ERCC5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2199+14A>G r.(=) p.(=) Unknown - likely benign g.103518275A>G g.102865925A>G ERCC5(NM_000123.3):c.2199+14A>G - BIVM_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2281G>A r.(?) p.(Ala761Thr) Unknown - VUS g.103518693G>A g.102866343G>A ERCC5(NM_000123.3):c.2281G>A (p.A761T), ERCC5(NM_000123.4):c.2281G>A (p.A761T) - ERCC5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2281G>A r.(?) p.(Ala761Thr) Unknown - VUS g.103518693G>A g.102866343G>A ERCC5(NM_000123.3):c.2281G>A (p.A761T), ERCC5(NM_000123.4):c.2281G>A (p.A761T) - ERCC5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2353C>T r.(?) p.(Gln785Ter) Unknown - pathogenic g.103519015C>T g.102866665C>T ERCC5(NM_000123.3):c.2353C>T (p.Q785*), ERCC5(NM_000123.4):c.2353C>T (p.Q785*) - ERCC5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2353C>T r.(?) p.(Gln785Ter) Unknown - likely pathogenic g.103519015C>T g.102866665C>T ERCC5(NM_000123.3):c.2353C>T (p.Q785*), ERCC5(NM_000123.4):c.2353C>T (p.Q785*) - ERCC5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2382C>T r.(?) p.(Cys794=) Unknown - likely benign g.103519044C>T g.102866694C>T ERCC5(NM_000123.3):c.2382C>T (p.C794=) - BIVM_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2383G>A r.(?) p.(Ala795Thr) Parent #1 - pathogenic (recessive) g.103519045G>A g.102866695G>A - - ERCC5_000071 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP118BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.2413G>A r.(?) p.(Gly805Arg) Unknown - pathogenic g.103519075G>A g.102866725G>A ERCC5(NM_000123.4):c.2413G>A (p.G805R) - BIVM_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2421C>T r.(?) p.(Ile807=) Unknown - likely benign g.103519083C>T g.102866733C>T ERCC5(NM_000123.3):c.2421C>T (p.I807=) - ERCC5_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2453C>T r.(?) p.(Ala818Val) Parent #1 - pathogenic (recessive) g.103519115C>T g.102866765C>T - - ERCC5_000072 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP34BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.2453C>T r.(?) p.(Ala818Val) Parent #1 - pathogenic (recessive) g.103519115C>T g.102866765C>T - - ERCC5_000072 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP120BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.2453C>T r.(?) p.(Ala818Val) Parent #1 - pathogenic (recessive) g.103519115C>T g.102866765C>T - - ERCC5_000072 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP119BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
-?/. - c.2454G>A r.(?) p.(Ala818=) Unknown - likely benign g.103519116G>A g.102866766G>A ERCC5(NM_000123.3):c.2454G>A (p.A818=) - ERCC5_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2534-10T>G r.(=) p.(=) Unknown - likely benign g.103520453T>G g.102868103T>G ERCC5(NM_000123.3):c.2534-10T>G - ERCC5_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2542C>T r.(?) p.(Arg848Trp) Unknown - VUS g.103520471C>T g.102868121C>T ERCC5(NM_000123.3):c.2542C>T (p.R848W), ERCC5(NM_000123.4):c.2542C>T (p.(Arg848Trp)) - ERCC5_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2542C>T r.(?) p.(Arg848Trp) Unknown - VUS g.103520471C>T - ERCC5(NM_000123.3):c.2542C>T (p.R848W), ERCC5(NM_000123.4):c.2542C>T (p.(Arg848Trp)) - ERCC5_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2586_2587del r.(?) p.(Thr863Argfs*17) Parent #2 - pathogenic (recessive) g.103520515_103520516del g.102868165_102868166del 2586_2587delTA - ERCC5_000073 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP34BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
?/. - c.2636A>G r.(?) p.(Asn879Ser) Unknown - VUS g.103520565A>G g.102868215A>G ERCC5(NM_000123.3):c.2636A>G (p.N879S), ERCC5(NM_000123.4):c.2636A>G (p.N879S) - BIVM_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2636A>G r.(?) p.(Asn879Ser) Unknown - benign g.103520565A>G g.102868215A>G ERCC5(NM_000123.3):c.2636A>G (p.N879S), ERCC5(NM_000123.4):c.2636A>G (p.N879S) - BIVM_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2636A>G r.(?) p.(Asn879Ser) Parent #1 - VUS g.103520565A>G g.102868215A>G - - BIVM_000011 no interpretation available; 22 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs4150342 Germline - 22/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 22 Mohammed Faruq
-/. - c.2768T>C r.(?) p.(Leu923Pro) Unknown - benign g.103524637T>C g.102872287T>C ERCC5(NM_000123.3):c.2768T>C (p.L923P) - BIVM_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2775del r.(?) p.(Gly926AlafsTer56) Unknown - pathogenic g.103524644del g.102872294del ERCC5(NM_000123.3):c.2775delT (p.G926Afs*56) - ERCC5_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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