Unique variants in gene ERCC2

Information The variants shown are described using the NM_000400.3 transcript reference sequence.

100 entries on 1 page. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.47A>G r.(?) p.(Tyr16Cys) - VUS g.45873449T>C g.45370191T>C - - ERCC2_000092 no interpretation available; 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs147972150 Germline - 1/2795 individuals - - - Mohammed Faruq
?/. 1 - c.76C>G r.(?) p.(Arg26Gly) - VUS g.45873420G>C g.45370162G>C ERCC2(NM_000400.3):c.76C>G (p.(Arg26Gly)) - ERCC2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.92C>T r.(?) p.(Thr31Met) - VUS g.45873404G>A g.45370146G>A ERCC2(NM_000400.3):c.92C>T (p.T31M) - ERCC2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.177C>T r.(?) p.(Tyr59=) - likely benign g.45872334G>A g.45369076G>A ERCC2(NM_000400.3):c.177C>T (p.Y59=) - ERCC2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.230_231del r.(?) p.(Val77Alafs*4) - VUS g.45872205_45872206del g.45368947_45368948del 230_231delTG - ERCC2_000081 - PubMed: Lhota 2016 - - Germline - - - - - Zdenek Kleibl
?/. 3 - c.260T>C r.(?) p.(Leu87Pro) - VUS g.45871988A>G g.45368730A>G ERCC2(NM_000400.3):c.260T>C (p.L87P, p.(Leu87Pro)) - ERCC2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/., -?/. 2 - c.284A>G r.(?) p.(Glu95Gly) - benign, likely benign g.45871964T>C g.45368706T>C ERCC2(NM_000400.3):c.284A>G (p.E95G, p.(Glu95Gly)) - ERCC2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
+?/. 1 - c.334C>T r.(?) p.(Arg112Cys) - likely pathogenic g.45871914G>A g.45368656G>A ERCC2(NM_000400.3):c.334C>T (p.R112C) - ERCC2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.373C>T r.(?) p.(Arg125Cys) - VUS g.45868404G>A g.45365146G>A ERCC2(NM_000400.3):c.373C>T (p.R125C) - ERCC2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.417C>G r.(?) p.(Ala139=) - likely benign g.45868360G>C g.45365102G>C ERCC2(NM_000400.3):c.417C>G (p.A139=) - ERCC2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.466C>T r.(?) p.(Arg156Ter) - pathogenic g.45868311G>A g.45365053G>A ERCC2(NM_000400.3):c.466C>T (p.R156*) - ERCC2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.468A>C r.(?) p.(Arg156=) - benign g.45868309T>G g.45365051T>G ERCC2(NM_000400.3):c.468A>C (p.R156=) - ERCC2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.473A>G r.(?) p.(Tyr158Cys) - VUS g.45868304T>C - ERCC2(NM_000400.3):c.473A>G (p.Y158C) - ERCC2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.477+9A>C r.(=) p.(=) - benign g.45868291T>G g.45365033T>G ERCC2(NM_000400.3):c.477+9A>C - ERCC2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.491A>G r.(?) p.(His164Arg) - likely benign g.45868199T>C g.45364941T>C ERCC2(NM_000400.3):c.491A>G (p.H164R) - ERCC2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.496C>T r.(?) p.(Arg166Cys) - VUS g.45868194G>A g.45364936G>A ERCC2(NM_000400.3):c.496C>T (p.(Arg166Cys)) - ERCC2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.545C>T r.(?) p.(Ala182Val) - likely benign g.45868145G>A g.45364887G>A ERCC2(NM_000400.3):c.545C>T (p.A182V) - ERCC2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.595-11C>T r.(=) p.(=) - likely benign g.45867816G>A g.45364558G>A ERCC2(NM_000400.3):c.595-11C>T - ERCC2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.601C>T r.(?) p.(His201Tyr) - likely benign g.45867799G>A g.45364541G>A ERCC2(NM_000400.3):c.601C>T (p.H201Y) - ERCC2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.679C>T r.(?) p.(Arg227Cys) - VUS g.45867721G>A g.45364463G>A ERCC2(NM_000400.3):c.679C>T (p.R227C) - ERCC2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., -/. 2 - c.687C>T r.(?) p.(Ala229=) - likely benign, benign g.45867713G>A g.45364455G>A ERCC2(NM_000400.3):c.687C>T (p.A229=) - ERCC2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.691G>A r.(?) p.(Val231Met) - VUS g.45867709C>T g.45364451C>T - - ERCC2_000091 5 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs200895828 Germline - 5/2794 individuals - - - Mohammed Faruq
-?/. 2 - c.699C>T r.(?) p.(Phe233=) - likely benign g.45867701G>A g.45364443G>A ERCC2(NM_000400.3):c.699C>T (p.F233=) - ERCC2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/. 2 - c.718+6G>T r.(=) p.(=) - benign g.45867676C>A g.45364418C>A ERCC2(NM_000400.3):c.718+6G>T - ERCC2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 2 - c.720C>G r.(?) p.(Asp240Glu) - VUS g.45867588G>C g.45364330G>C ERCC2(NM_000400.3):c.720C>G (p.D240E) - ERCC2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 3 - c.733G>A r.(?) p.(Asp245Asn) - VUS g.45867575C>T g.45364317C>T ERCC2(NM_000400.3):c.733G>A (p.D245N, p.(Asp245Asn)) - ERCC2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 1 - c.776G>T r.(?) p.(Cys259Phe) - VUS g.45867532C>A - ERCC2(NM_000400.3):c.776G>T (p.C259F) - ERCC2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.818T>G r.(?) p.(Ile273Ser) - VUS g.45867375A>C g.45364117A>C ERCC2(NM_000400.3):c.818T>G (p.I273S) - ERCC2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.934G>A r.(?) p.(Asp312Asn) - benign g.45867259C>T g.45364001C>T ERCC2(NM_000400.3):c.934G>A (p.D312N) - ERCC2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.946C>G r.(?) p.(Gln316Glu) - likely benign g.45867247G>C g.45363989G>C ERCC2(NM_000400.3):c.946C>G (p.(Gln316Glu)) - ERCC2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.949+21G>A r.(=) p.(=) - likely benign g.45867223C>T g.45363965C>T ERCC2(NM_000400.3):c.949+21G>A - ERCC2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.949+27dup r.(=) p.(=) - benign g.45867222dup g.45363964dup ERCC2(NM_000400.3):c.949+27dupC - ERCC2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.974C>T r.(?) p.(Thr325Met) - VUS g.45867145G>A g.45363887G>A ERCC2(NM_000400.3):c.974C>T (p.T325M) - ERCC2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1003C>T r.(?) p.(Arg335Trp) - VUS g.45867116G>A g.45363858G>A ERCC2(NM_000400.3):c.1003C>T (p.R335W) - ERCC2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1017C>G r.(?) p.(Tyr339Ter) - pathogenic g.45867102G>C g.45363844G>C ERCC2(NM_000400.3):c.1017C>G (p.Y339*) - ERCC2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1119-5G>A r.spl? p.? - likely benign g.45864905C>T g.45361647C>T ERCC2(NM_000400.3):c.1119-5G>A - ERCC2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1132C>T r.(?) p.(Arg378Cys) - likely pathogenic g.45864887G>A g.45361629G>A ERCC2(NM_000400.3):c.1132C>T (p.R378C) - ERCC2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.1276C>G r.(?) p.(Pro426Ala) - VUS g.45860919G>C g.45357661G>C ERCC2(NM_000400.3):c.1276C>G (p.(Pro426Ala)) - ERCC2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1318G>A r.(?) p.(Ala440Thr) - VUS g.45860791C>T - ERCC2(NM_000400.3):c.1318G>A (p.A440T) - ERCC2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1349G>A r.(?) p.(Arg450His) - VUS g.45860760C>T g.45357502C>T ERCC2(NM_000400.3):c.1349G>A (p.R450H) - ERCC2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1377+8C>T r.(=) p.(=) - benign g.45860724G>A g.45357466G>A ERCC2(NM_000400.3):c.1377+8C>T - ERCC2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1378-23T>C r.(=) p.(=) - benign g.45860652A>G g.45357394A>G ERCC2(NM_000400.3):c.1378-23T>C - ERCC2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1381C>G r.(?) p.(Leu461Val) - pathogenic g.45860626G>C g.45357368G>C ERCC2(NM_000400.3):c.1381C>G (p.L461V) - ERCC2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1426G>A r.(?) p.(Val476Ile) - VUS g.45860581C>T g.45357323C>T ERCC2(NM_000400.3):c.1426G>A (p.(Val476Ile)) - ERCC2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1436C>T r.(?) p.(Ala479Val) - likely benign g.45860571G>A g.45357313G>A ERCC2(NM_000400.3):c.1436C>T (p.(Ala479Val)) - ERCC2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1479+19_1479+20del r.(=) p.(=) - likely benign g.45860509_45860510del g.45357251_45357252del ERCC2(NM_000400.3):c.1479+19_1479+20delGG - ERCC2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.1532G>A r.(?) p.(Arg511Gln) - likely pathogenic g.45858934C>T g.45355676C>T - - ERCC2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1544-5T>C r.spl? p.? - likely benign g.45858114A>G - ERCC2(NM_000400.3):c.1544-5T>C - ERCC2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1552C>T r.(?) p.(Arg518Trp) - VUS g.45858101G>A g.45354843G>A ERCC2(NM_000400.3):c.1552C>T (p.R518W) - ERCC2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1553G>A r.(?) p.(Arg518Gln) - VUS g.45858100C>T g.45354842C>T ERCC2(NM_000400.3):c.1553G>A (p.R518Q, p.(Arg518Gln)) - ERCC2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 1 - c.1600G>A r.(?) p.(Gly534Ser) - VUS g.45858053C>T g.45354795C>T ERCC2(NM_000400.3):c.1600G>A (p.G534S) - ERCC2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1606G>A r.(?) p.(Val536Met) - VUS g.45858047C>T - ERCC2(NM_000400.3):c.1606G>A (p.V536M) - ERCC2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1644C>T r.(?) p.(Thr548=) - likely benign g.45858009G>A g.45354751G>A ERCC2(NM_000400.3):c.1644C>T (p.T548=) - ERCC2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1666-20C>T r.(=) p.(=) - benign g.45856612G>A g.45353354G>A ERCC2(NM_000400.3):c.1666-20C>T - ERCC2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1680C>T r.(?) p.(Asn560=) - likely benign g.45856578G>A - ERCC2(NM_000400.3):c.1680C>T (p.N560=) - ERCC2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1693A>C r.(?) p.(Lys565Gln) - VUS g.45856565T>G - ERCC2(NM_000400.3):c.1693A>C (p.K565Q) - ERCC2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.1703_1704del r.(?) p.(Phe568Tyrfs*2) - VUS g.45856555_45856556del g.45353297_45353298del 1703_1704delTT - ERCC2_000062 - PubMed: Lhota 2016 - - Germline - - - - - Zdenek Kleibl
?/. 1 - c.1712C>G r.(?) p.(Thr571Ser) - VUS g.45856546G>C g.45353288G>C 1712G>C (571T>S) - ERCC2_000001 - PubMed: Sun 2016 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1726G>A r.(?) p.(Glu576Lys) - VUS g.45856532C>T g.45353274C>T ERCC2(NM_000400.3):c.1726G>A (p.E576K) - ERCC2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1733G>A r.(?) p.(Ser578Asn) - VUS g.45856525C>T g.45353267C>T S578N - ERCC2_000082 variant in 1 affected only PubMed: Swagemakers 2014 - - De novo no - - - - Johan den Dunnen
-?/., -/. 2 - c.1755G>A r.(?) p.(Gln585=) - likely benign, benign g.45856503C>T g.45353245C>T ERCC2(NM_000400.3):c.1755G>A (p.Q585=) - ERCC2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.1758+10C>T r.(=) p.(=) - likely benign g.45856490G>A g.45353232G>A ERCC2(NM_000400.3):c.1758+10C>T - ERCC2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1764C>T r.(?) p.(Cys588=) - likely benign g.45856408G>A g.45353150G>A ERCC2(NM_000400.3):c.1764C>T (p.C588=) - ERCC2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1789C>T r.(?) p.(Leu597=) - likely benign g.45856383G>A g.45353125G>A ERCC2(NM_000400.3):c.1789C>T (p.L597=) - ERCC2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1801C>T r.(?) p.(Arg601Trp) - pathogenic g.45856371G>A g.45353113G>A - - ERCC2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - c.1802G>A r.(?) p.(Arg601Gln) - VUS g.45856370C>T g.45353112C>T ERCC2(NM_000400.3):c.1802G>A (p.R601Q) - ERCC2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.1815C>T r.(?) p.(Ser605=) - likely benign g.45856357G>A g.45353099G>A ERCC2(NM_000400.3):c.1815C>T (p.S605=) - ERCC2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1816G>T r.(?) p.(Glu606Ter) - pathogenic g.45856356C>A g.45353098C>A ERCC2(NM_000400.3):c.1816G>T (p.E606*) - ERCC2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1820G>A r.(?) p.(Gly607Glu) - likely pathogenic g.45856352C>T g.45353094C>T ERCC2(NM_000400.3):c.1820G>A (p.G607E) - ERCC2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1832-26C>T r.(=) p.(=) - benign g.45856100G>A g.45352842G>A ERCC2(NM_000400.3):c.1832-26C>T - ERCC2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1832-6C>T r.(=) p.(=) - benign g.45856080G>A g.45352822G>A ERCC2(NM_000400.3):c.1832-6C>T - ERCC2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1832T>C r.(?) p.(Val611Ala) - VUS g.45856074A>G g.45352816A>G ERCC2(NM_000400.3):c.1832T>C (p.(Val611Ala)) - ERCC2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1846C>T r.(?) p.(Arg616Trp) - VUS g.45856060G>A g.45352802G>A ERCC2(NM_000400.3):c.1846C>T (p.R616W) - ERCC2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/., +?/. 2 - c.1847G>A r.(?) p.(Arg616Gln) - VUS, likely pathogenic g.45856059C>T g.45352801C>T ERCC2(NM_000400.3):c.1847G>A (p.R616Q) - ERCC2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 - c.1847G>C r.(?) p.(Arg616Pro) - pathogenic g.45856059C>G g.45352801C>G ERCC2(NM_000400.3):c.1847G>C (p.R616P) - ERCC2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1867dup r.(?) p.(Val623GlyfsTer26) - pathogenic g.45856039dup g.45352781dup ERCC2(NM_000400.3):c.1867dupG (p.V623Gfs*26) - ERCC2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 2 - c.1887G>C r.(?) p.(Gln629His) - VUS g.45856019C>G g.45352761C>G - - ERCC2_000090 3 heterozygous; Clinindb (India), 1 homozygous; Clinindb (India) Faruq 2020, submtted - rs200665173 Germline - 3/2795 individuals, 1/2795 individuals - - - Mohammed Faruq
-?/. 1 - c.1893C>T r.(?) p.(Arg631=) - likely benign g.45856013G>A g.45352755G>A ERCC2(NM_000400.3):c.1893C>T (p.R631=) - ERCC2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1903-10G>A r.(=) p.(=) - VUS g.45855917C>T g.45352659C>T ERCC2(NM_000400.3):c.1903-10G>A - ERCC2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1904C>T r.(?) p.(Ala635Val) - VUS g.45855906G>A g.45352648G>A ERCC2(NM_000400.3):c.1904C>T (p.A635V) - ERCC2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1905G>A r.(?) p.(Ala635=) - likely benign g.45855905C>T g.45352647C>T ERCC2(NM_000400.3):c.1905G>A (p.A635=) - ERCC2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2035T>C r.(?) p.(Phe679Leu) - likely benign g.45855775A>G - ERCC2(NM_000400.3):c.2035T>C (p.F679L) - ERCC2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2047C>T r.(?) p.(Arg683Trp) - pathogenic g.45855610G>A g.45352352G>A - - ERCC2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/., +?/. 2 - c.2056C>T r.(?) p.(Arg686Cys) - VUS, likely pathogenic g.45855601G>A g.45352343G>A ERCC2(NM_000400.3):c.2056C>T (p.R686C) - ERCC2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 2 - c.2127C>T r.(?) p.(Thr709=) - likely benign g.45855530G>A g.45352272G>A ERCC2(NM_000400.3):c.2127C>T (p.T709=) - ERCC2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/. 2 - c.2133C>T r.(?) p.(Asp711=) - benign g.45855524G>A g.45352266G>A ERCC2(NM_000400.3):c.2133C>T (p.D711=) - ERCC2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/. 1 - c.2137G>C r.(?) p.(Gly713Arg) - pathogenic g.45855520C>G g.45352262C>G ERCC2(NM_000400.3):c.2137G>C (p.G713R) - ERCC2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2150C>G r.(?) p.(Ala717Gly) - VUS g.45855507G>C g.45352249G>C ERCC2(NM_000400.3):c.2150C>G (p.A717G) - ERCC2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 - c.2164C>T r.(?) p.(Arg722Trp) - pathogenic g.45855493G>A g.45352235G>A ERCC2(NM_000400.3):c.2164C>T (p.R722W) - ERCC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Nijmegen
-?/. 2 - c.2189G>A r.(?) p.(Arg730Gln) - likely benign g.45855468C>T g.45352210C>T ERCC2(NM_000400.3):c.2189G>A (p.R730Q, p.(Arg730Gln)) - ERCC2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
-/. 2 - c.2190+12G>A r.(=) p.(=) - benign g.45855455C>T g.45352197C>T ERCC2(NM_000400.3):c.2190+12G>A - ERCC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.2191-4G>A r.spl? p.? - likely benign g.45854983C>T g.45351725C>T ERCC2(NM_000400.3):c.2191-4G>A - ERCC2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.2251A>C r.(?) p.(Lys751Gln) - benign g.45854919T>G g.45351661T>G ERCC2(NM_000400.3):c.2251A>C (p.K751Q) - ERCC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.*275G>T r.(=) p.(=) - VUS g.45854612C>A g.45351354C>A KLC3(NM_177417.2):c.1512C>A (p.(His504Gln)) - KLC3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*638C>A r.(=) p.(=) - VUS g.45854249G>T g.45350991G>T KLC3(NM_177417.2):c.1417G>T (p.(Asp473Tyr)) - KLC3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*1112_*1123del r.(=) p.(=) - VUS g.45853768_45853779del g.45350510_45350521del KLC3(NM_177417.2):c.1235-8_1238del (p.?) - KLC3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*1191G>C r.(=) p.(=) - VUS g.45853696C>G g.45350438C>G KLC3(NM_177417.2):c.1234+7C>G (p.(=)) - KLC3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*1194T>C r.(=) p.(=) - VUS g.45853693A>G g.45350435A>G KLC3(NM_177417.2):c.1234+4A>G (p.?) - KLC3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*2109C>T r.(=) p.(=) - likely benign g.45852778G>A g.45349520G>A KLC3(NM_177417.2):c.1061G>A (p.(Arg354Gln)) - ERCC2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*3677C>T r.(=) p.(=) - likely benign g.45851210G>A g.45347952G>A KLC3(NM_177417.2):c.571G>A (p.(Ala191Thr)) - KLC3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
Legend