Unique variants in gene ERCC2

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

85 entries on 1 page. Showing entries 1 - 85.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.76C>G VUS r.(?) p.(Arg26Gly) g.45873420G>C - ERCC2(NM_000400.3):c.76C>G (p.(Arg26Gly)) - ERCC2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.92C>T VUS r.(?) p.(Thr31Met) g.45873404G>A - ERCC2(NM_000400.3):c.92C>T (p.T31M) - ERCC2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.177C>T likely benign r.(?) p.(=) g.45872334G>A - ERCC2(NM_000400.3):c.177C>T (p.Y59=) - ERCC2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 1 - c.230_231del VUS r.(?) p.(Val77Alafs*4) g.45872203_45872204del g.45368945_45368946del 230_231delTG - ERCC2_000081 - PubMed: Lhota 2016 - - Germline - - - - - Zdenek Kleibl
?/. 3 - c.260T>C VUS r.(?) p.(Leu87Pro) g.45871988A>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 benign, likely benign r.(?) p.(Glu95Gly) g.45871964T>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 likely pathogenic r.(?) p.(Arg112Cys) g.45871914G>A - ERCC2(NM_000400.3):c.334C>T (p.R112C) - ERCC2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.373C>T VUS r.(?) p.(Arg125Cys) g.45868404G>A - ERCC2(NM_000400.3):c.373C>T (p.R125C) - ERCC2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.417C>G likely benign r.(?) p.(=) g.45868360G>C - ERCC2(NM_000400.3):c.417C>G (p.A139=) - ERCC2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.466C>T pathogenic r.(?) p.(Arg156*) g.45868311G>A - ERCC2(NM_000400.3):c.466C>T (p.R156*) - ERCC2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.468A>C benign r.(?) p.(=) g.45868309T>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.477+9A>C benign r.(=) p.(=) g.45868291T>G - ERCC2(NM_000400.3):c.477+9A>C - ERCC2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.491A>G likely benign r.(?) p.(His164Arg) g.45868199T>C - ERCC2(NM_000400.3):c.491A>G (p.H164R) - ERCC2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.496C>T VUS r.(?) p.(Arg166Cys) g.45868194G>A - ERCC2(NM_000400.3):c.496C>T (p.(Arg166Cys)) - ERCC2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.545C>T likely benign r.(?) p.(Ala182Val) g.45868145G>A - ERCC2(NM_000400.3):c.545C>T (p.A182V) - ERCC2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.595-11C>T likely benign r.(=) p.(=) g.45867816G>A - ERCC2(NM_000400.3):c.595-11C>T - ERCC2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.601C>T likely benign r.(?) p.(His201Tyr) g.45867799G>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 VUS r.(?) p.(Arg227Cys) g.45867721G>A - ERCC2(NM_000400.3):c.679C>T (p.R227C) - ERCC2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 - c.687C>T likely benign, benign r.(?) p.(=) g.45867713G>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
-?/. 2 - c.699C>T likely benign r.(?) p.(=) g.45867701G>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 benign r.(=) p.(=) g.45867676C>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 VUS r.(?) p.(Asp240Glu) g.45867588G>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
?/. 2 - c.733G>A VUS r.(?) p.(Asp245Asn) g.45867575C>T - ERCC2(NM_000400.3):c.733G>A (p.D245N, p.(Asp245Asn)) - ERCC2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 1 - c.818T>G VUS r.(?) p.(Ile273Ser) g.45867375A>C - ERCC2(NM_000400.3):c.818T>G (p.I273S) - ERCC2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.934G>A benign r.(?) p.(Asp312Asn) g.45867259C>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 likely benign r.(?) p.(Gln316Glu) g.45867247G>C - ERCC2(NM_000400.3):c.946C>G (p.(Gln316Glu)) - ERCC2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.949+21G>A likely benign r.(=) p.(=) g.45867223C>T - ERCC2(NM_000400.3):c.949+21G>A - ERCC2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.949+27dup benign r.(=) p.(=) g.45867222dup - ERCC2(NM_000400.3):c.949+27dupC - ERCC2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.974C>T VUS r.(?) p.(Thr325Met) g.45867145G>A - ERCC2(NM_000400.3):c.974C>T (p.T325M) - ERCC2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1003C>T VUS r.(?) p.(Arg335Trp) g.45867116G>A - ERCC2(NM_000400.3):c.1003C>T (p.R335W) - ERCC2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1017C>G pathogenic r.(?) p.(Tyr339*) g.45867102G>C - ERCC2(NM_000400.3):c.1017C>G (p.Y339*) - ERCC2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1119-5G>A likely benign r.spl? p.? g.45864905C>T - ERCC2(NM_000400.3):c.1119-5G>A - ERCC2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1132C>T likely pathogenic r.(?) p.(Arg378Cys) g.45864887G>A - ERCC2(NM_000400.3):c.1132C>T (p.R378C) - ERCC2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1276C>G VUS r.(?) p.(Pro426Ala) g.45860919G>C - ERCC2(NM_000400.3):c.1276C>G (p.(Pro426Ala)) - ERCC2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1349G>A VUS r.(?) p.(Arg450His) g.45860760C>T - ERCC2(NM_000400.3):c.1349G>A (p.R450H) - ERCC2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1377+8C>T benign r.(=) p.(=) g.45860724G>A - ERCC2(NM_000400.3):c.1377+8C>T - ERCC2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1378-23T>C benign r.(=) p.(=) g.45860652A>G - ERCC2(NM_000400.3):c.1378-23T>C - ERCC2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1381C>G pathogenic r.(?) p.(Leu461Val) g.45860626G>C - ERCC2(NM_000400.3):c.1381C>G (p.L461V) - ERCC2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1426G>A VUS r.(?) p.(Val476Ile) g.45860581C>T - ERCC2(NM_000400.3):c.1426G>A (p.(Val476Ile)) - ERCC2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1436C>T likely benign r.(?) p.(Ala479Val) g.45860571G>A - ERCC2(NM_000400.3):c.1436C>T (p.(Ala479Val)) - ERCC2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1479+19_1479+20del likely benign r.(=) p.(=) g.45860509_45860510del - ERCC2(NM_000400.3):c.1479+19_1479+20delGG - ERCC2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1532G>A likely pathogenic r.(?) p.(Arg511Gln) g.45858934C>T - - - ERCC2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1552C>T VUS r.(?) p.(Arg518Trp) g.45858101G>A - ERCC2(NM_000400.3):c.1552C>T (p.R518W) - ERCC2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.1553G>A VUS r.(?) p.(Arg518Gln) g.45858100C>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 VUS r.(?) p.(Gly534Ser) g.45858053C>T - ERCC2(NM_000400.3):c.1600G>A (p.G534S) - ERCC2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1666-20C>T benign r.(=) p.(=) g.45856612G>A - ERCC2(NM_000400.3):c.1666-20C>T - ERCC2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 1 - c.1703_1704del VUS r.(?) p.(Phe568Tyrfs*2) g.45856554_45856555del g.45353296_45353297del 1703_1704delTT - ERCC2_000062 - PubMed: Lhota 2016 - - Germline - - - - - Zdenek Kleibl
?/. 1 - c.1712C>G - r.(?) p.(Thr571Ser) g.45856546G>C g.45353288G>C 1712G>C (571T>S) - ERCC2_000001 - PubMed: Sun 2016 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1726G>A VUS r.(?) p.(Glu576Lys) g.45856532C>T - ERCC2(NM_000400.3):c.1726G>A (p.E576K) - ERCC2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1733G>A VUS r.(?) p.(Ser578Asn) 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 likely benign, benign r.(?) p.(=) g.45856503C>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 likely benign r.(=) p.(=) g.45856490G>A - ERCC2(NM_000400.3):c.1758+10C>T - ERCC2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1764C>T likely benign r.(?) p.(=) g.45856408G>A - ERCC2(NM_000400.3):c.1764C>T (p.C588=) - ERCC2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1789C>T likely benign r.(?) p.(=) g.45856383G>A - ERCC2(NM_000400.3):c.1789C>T (p.L597=) - ERCC2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1801C>T pathogenic r.(?) p.(Arg601Trp) g.45856371G>A - - - ERCC2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.1802G>A VUS r.(?) p.(Arg601Gln) g.45856370C>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 likely benign r.(?) p.(=) g.45856357G>A - ERCC2(NM_000400.3):c.1815C>T (p.S605=) - ERCC2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1816G>T pathogenic r.(?) p.(Glu606*) g.45856356C>A - ERCC2(NM_000400.3):c.1816G>T (p.E606*) - ERCC2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1832-26C>T benign r.(=) p.(=) g.45856100G>A - ERCC2(NM_000400.3):c.1832-26C>T - ERCC2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1832-6C>T benign r.(=) p.(=) g.45856080G>A - ERCC2(NM_000400.3):c.1832-6C>T - ERCC2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1832T>C VUS r.(?) p.(Val611Ala) g.45856074A>G - ERCC2(NM_000400.3):c.1832T>C (p.(Val611Ala)) - ERCC2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1846C>T VUS r.(?) p.(Arg616Trp) g.45856060G>A - ERCC2(NM_000400.3):c.1846C>T (p.R616W) - ERCC2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., +?/. 2 - c.1847G>A VUS, likely pathogenic r.(?) p.(Arg616Gln) g.45856059C>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.1867dup pathogenic r.(?) p.(Val623Glyfs*26) g.45856039dup - ERCC2(NM_000400.3):c.1867dupG (p.V623Gfs*26) - ERCC2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1893C>T likely benign r.(?) p.(=) g.45856013G>A - ERCC2(NM_000400.3):c.1893C>T (p.R631=) - ERCC2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1903-10G>A VUS r.(=) p.(=) g.45855917C>T - ERCC2(NM_000400.3):c.1903-10G>A - ERCC2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1904C>T VUS r.(?) p.(Ala635Val) g.45855906G>A - ERCC2(NM_000400.3):c.1904C>T (p.A635V) - ERCC2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1905G>A likely benign r.(?) p.(=) g.45855905C>T - ERCC2(NM_000400.3):c.1905G>A (p.A635=) - ERCC2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2047C>T pathogenic r.(?) p.(Arg683Trp) g.45855610G>A - - - ERCC2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., +?/. 2 - c.2056C>T VUS, likely pathogenic r.(?) p.(Arg686Cys) g.45855601G>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 likely benign r.(?) p.(=) g.45855530G>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 benign r.(?) p.(=) g.45855524G>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 pathogenic r.(?) p.(Gly713Arg) g.45855520C>G - ERCC2(NM_000400.3):c.2137G>C (p.G713R) - ERCC2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2150C>G VUS r.(?) p.(Ala717Gly) g.45855507G>C - ERCC2(NM_000400.3):c.2150C>G (p.A717G) - ERCC2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 3 - c.2164C>T pathogenic r.(?) p.(Arg722Trp) g.45855493G>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
-?/. 1 - c.2189G>A likely benign r.(?) p.(Arg730Gln) g.45855468C>T - ERCC2(NM_000400.3):c.2189G>A (p.R730Q) - ERCC2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.2190+12G>A benign r.(=) p.(=) g.45855455C>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 likely benign r.spl? p.? g.45854983C>T - ERCC2(NM_000400.3):c.2191-4G>A - ERCC2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.2251A>C benign r.(?) p.(Lys751Gln) g.45854919T>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 VUS r.(=) p.(=) g.45854612C>A - KLC3(NM_177417.2):c.1512C>A (p.(His504Gln)) - KLC3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*638C>A VUS r.(=) p.(=) g.45854249G>T - KLC3(NM_177417.2):c.1417G>T (p.(Asp473Tyr)) - KLC3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*1112_*1123del VUS r.(=) p.(=) g.45853768_45853779del - KLC3(NM_177417.2):c.1235-8_1238del (p.?) - KLC3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*1191G>C VUS r.(=) p.(=) g.45853696C>G - KLC3(NM_177417.2):c.1234+7C>G (p.(=)) - KLC3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*1194T>C VUS r.(=) p.(=) g.45853693A>G - KLC3(NM_177417.2):c.1234+4A>G (p.?) - KLC3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*2109C>T likely benign r.(=) p.(=) g.45852778G>A - KLC3(NM_177417.2):c.1061G>A (p.(Arg354Gln)) - ERCC2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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