Unique variants in the ERCC6 gene

Information The variants shown are described using the NM_000124.2 transcript reference sequence.

125 entries on 2 pages. 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.-87C>A r.(?) p.(=) - benign g.50747080G>T g.49539034G>T - - ERCC6_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.-78G>T r.(?) p.(=) - benign g.50747071C>A g.49539025C>A - - ERCC6_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 3 - c.135C>G r.(?) p.(Leu45=) - benign g.50740876G>C g.49532830G>C ERCC6(NM_000124.2):c.135C>G (p.L45=) - ERCC6_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.150G>A r.(?) p.(Val50=) - likely benign g.50740861C>T g.49532815C>T ERCC6(NM_000124.2):c.150G>A (p.V50=) - ERCC6_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.384C>T r.(?) p.(Asp128=) - likely benign g.50740627G>A - ERCC6(NM_001346440.1):c.384C>T (p.D128=) - ERCC6_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/., ?/. 2 - c.385G>A r.(?) p.(Val129Met) - likely benign, VUS g.50740626C>T g.49532580C>T ERCC6(NM_000124.2):c.385G>A (p.V129M) - ERCC6_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 2 - c.411G>A r.(?) p.(Leu137=) - benign g.50740600C>T g.49532554C>T ERCC6(NM_000124.2):c.411G>A (p.L137=) - ERCC6_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 - c.526C>T r.(?) p.(Arg176*) - pathogenic g.50738783G>A - ERCC6(NM_001346440.1):c.526C>T (p.R176*) - ERCC6_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.528A>G r.(?) p.(Arg176=) - benign, likely benign g.50738781T>C g.49530735T>C ERCC6(NM_000124.2):c.528A>G (p.R176=) - ERCC6_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.565A>G r.(?) p.(Thr189Ala) - VUS g.50736550T>C g.49528504T>C ERCC6(NM_000124.2):c.565A>G (p.T189A) - ERCC6_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.643G>T r.(?) p.(Glu215Ter) - likely pathogenic g.50736472C>A g.49528426C>A ERCC6(NM_000124.2):c.643G>T (p.E215*) - ERCC6_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.646G>A r.(?) p.(Asp216Asn) - VUS g.50736469C>T g.49528423C>T ERCC6(NM_000124.2):c.646G>A (p.D216N) - ERCC6_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.721C>T r.(?) p.(Arg241Cys) - VUS g.50732755G>A g.49524709G>A ERCC6(NM_000124.2):c.721C>T (p.R241C) - ERCC6_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.809del r.(?) p.(Gly270AlafsTer59) - pathogenic g.50732668del g.49524622del ERCC6(NM_000124.2):c.809delG (p.G270Afs*59) - ERCC6_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 5 c.1012del r.(?) p.(Arg338GlyfsTer22) - pathogenic g.50732464del g.49524418del - - ERCC6_000127 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1044G>A r.(?) p.(Leu348=) - likely benign g.50732432C>T g.49524386C>T ERCC6(NM_000124.2):c.1044G>A (p.L348=) - ERCC6_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1146G>A r.(?) p.(Glu382=) - likely benign g.50732330C>T g.49524284C>T ERCC6(NM_000124.2):c.1146G>A (p.E382=) - ERCC6_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1158C>G r.(?) p.(Asp386Glu) - likely benign g.50732318G>C g.49524272G>C ERCC6(NM_000124.2):c.1158C>G (p.D386E, p.(Asp386Glu)) - ERCC6_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.1159G>A r.(?) p.(Glu387Lys) - VUS g.50732317C>T g.49524271C>T ERCC6(NM_000124.2):c.1159G>A (p.E387K) - ERCC6_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1170G>A r.(?) p.(Gly390=) - likely benign g.50732306C>T g.49524260C>T ERCC6(NM_000124.2):c.1170G>A (p.G390=) - ERCC6_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.1196G>A r.(?) p.(Gly399Asp) - benign g.50732280C>T g.49524234C>T ERCC6(NM_000124.2):c.1196G>A (p.G399D) - ERCC6_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.1241A>C r.(?) p.(Gln414Pro) - likely benign g.50732235T>G g.49524189T>G ERCC6(NM_000124.2):c.1241A>C (p.Q414P) - ERCC6_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1274A>C r.(?) p.(Asp425Ala) - VUS g.50732202T>G g.49524156T>G ERCC6(NM_000124.2):c.1274A>C (p.D425A) - ERCC6_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.1337G>A r.(?) p.(Gly446Asp) - likely benign g.50732139C>T g.49524093C>T ERCC6(NM_000124.2):c.1337G>A (p.G446D) - ERCC6_000073 19 heterozygous; Clinindb (India), 2 homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs4253047 CLASSIFICATION record, Germline - 19/2795 individuals, 2/2795 individuals - - - VKGL-NL_Groningen, Mohammed Faruq
?/. 1 - c.1339C>T r.(?) p.(Arg447Trp) - VUS g.50732137G>A g.49524091G>A ERCC6(NM_000124.2):c.1339C>T (p.R447W) - ERCC6_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1378T>G r.(?) p.(Tyr460Asp) - VUS g.50732098A>C - ERCC6(NM_001346440.1):c.1378T>G (p.Y460D) - ERCC6_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1397+7197G>A r.(=) p.(=) - likely benign g.50724882C>T g.49516836C>T ERCC6(NM_001277058.1):c.1683G>A (p.T561=) - ERCC6_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1397+7359A>G r.(=) p.(=) - likely benign g.50724720T>C - ERCC6(NM_001277058.1):c.1845A>G (p.E615=) - ERCC6_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1397+7657C>T r.(=) p.(=) - VUS g.50724422G>A - ERCC6(NM_001277058.1):c.2143C>T (p.R715*) - ERCC6_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1397+7671C>T r.(=) p.(=) - likely benign g.50724408G>A g.49516362G>A ERCC6(NM_001277058.1):c.2157C>T (p.S719=) - ERCC6_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1397+7750G>T r.(=) p.(=) - VUS g.50724329C>A g.49516283C>A ERCC6(NM_001277058.1):c.2236G>T (p.G746C) - ERCC6_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1397+7763G>A r.(=) p.(=) - VUS g.50724316C>T g.49516270C>T ERCC6(NM_000124.2):c.1397+7763G>A (p.(=)) - ERCC6_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1397+7904C>T r.(=) p.(=) - VUS g.50724175G>A - ERCC6(NM_001277058.1):c.2390C>T (p.A797V) - ERCC6_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1397+8063G>A r.(=) p.(=) - benign g.50724016C>T g.49515970C>T ERCC6(NM_000124.2):c.1397+8063G>A, PGBD3(NM_170753.3):c.1145G>A (p.R382K) - ERCC6_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1397+8066T>C r.(=) p.(=) - likely benign g.50724013A>G - ERCC6(NM_001277058.1):c.2552T>C (p.V851A) - ERCC6_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1397+8395C>T r.(=) p.(=) - benign g.50723684G>A g.49515638G>A ERCC6(NM_000124.2):c.1397+8395C>T, PGBD3(NM_170753.3):c.1477C>T (p.L493=) - ERCC6_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1435C>T r.(?) p.(Arg479Cys) - likely benign g.50714021G>A g.49505975G>A ERCC6(NM_001346440.1):c.1435C>T (p.R479C) - ERCC6_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1436G>A r.(?) p.(Arg479His) - likely benign g.50714020C>T g.49505974C>T ERCC6(NM_000124.2):c.1436G>A (p.R479H) - ERCC6_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1445T>G r.(?) p.(Leu482Arg) - likely benign g.50714011A>C g.49505965A>C ERCC6(NM_000124.2):c.1445T>G (p.L482R) - ERCC6_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1457C>G r.(?) p.(Ser486Cys) - VUS g.50713999G>C g.49505953G>C ERCC6(NM_000124.2):c.1457C>G (p.S486C) - ERCC6_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1526+1G>T r.spl? p.? - pathogenic g.50713929C>A - ERCC6(NM_001346440.1):c.1526+1G>T - ERCC6_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 7 c.1536dup r.(?) p.(Thr513AspfsTer4) - pathogenic g.50708733dup g.49500687dup - - ERCC6_000126 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1650C>T r.(?) p.(Ser550=) - likely benign g.50708619G>A g.49500573G>A ERCC6(NM_000124.2):c.1650C>T (p.S550=) - ERCC6_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1669C>G r.(?) p.(Arg557Gly) - VUS g.50708600G>C g.49500554G>C - - ERCC6_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1670G>A r.(?) p.(Arg557His) - VUS g.50708599C>T g.49500553C>T ERCC6(NM_000124.2):c.1670G>A (p.R557H) - ERCC6_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1772C>T r.(?) p.(Pro591Leu) - VUS g.50701212G>A g.49493166G>A ERCC6(NM_000124.2):c.1772C>T (p.P591L) - ERCC6_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1801G>A r.(?) p.(Gly601Ser) - VUS g.50701183C>T g.49493137C>T ERCC6(NM_000124.2):c.1801G>A (p.G601S) - ERCC6_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.1821+7C>T r.(=) p.(=) - benign g.50701156G>A g.49493110G>A ERCC6(NM_000124.2):c.1821+7C>T - ERCC6_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
./. 2 - c.1945C>T r.(?) p.(His649Tyr) - pathogenic g.50691439G>A g.49483393G>A - - ERCC6_000006 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1946A>G r.(?) p.(His649Arg) - VUS g.50691438T>C g.49483392T>C ERCC6(NM_001346440.2):c.1946A>G (p.H649R) - ERCC6_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.1954C>T r.(?) p.(Arg652Ter) - pathogenic g.50691430G>A g.49483384G>A ERCC6(NM_000124.2):c.1954C>T (p.R652*) - ERCC6_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 2 - c.1992+7C>T r.(=) p.(=) - likely benign g.50691385G>A - ERCC6(NM_001346440.1):c.1992+7C>T - ERCC6_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 3 - c.1996C>T r.(?) p.(Arg666Cys) - VUS g.50690906G>A g.49482860G>A ERCC6(NM_000124.2):c.1996C>T (p.R666C, p.(Arg666Cys)) - ERCC6_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/. 1 - c.2008C>T r.(?) p.(Arg670Trp) - pathogenic g.50690894G>A g.49482848G>A - - ERCC6_000117 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs202080674 Germline - 3/2795 individuals - - - Mohammed Faruq
-/. 1 - c.2082G>A r.(?) p.(Pro694=) - benign g.50690820C>T g.49482774C>T ERCC6(NM_000124.2):c.2082G>A (p.P694=) - ERCC6_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2096C>T r.(?) p.(Thr699Met) - VUS g.50690806G>A g.49482760G>A ERCC6(NM_000124.2):c.2096C>T (p.T699M) - ERCC6_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2167C>A r.(?) p.(Gln723Lys) - VUS g.50690735G>T g.49482689G>T - - ERCC6_000004 Not known correct genotype - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - c.2167C>T r.(?) p.(Gln723*) - VUS g.50690735G>A g.49482689G>A - - ERCC6_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - c.2183A>C r.(?) p.(Tyr728Ser) - VUS g.50686503T>G g.49478457T>G ERCC6(NM_000124.2):c.2183A>C (p.Y728S) - ERCC6_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.2203C>T r.(?) p.(Arg735Ter) - pathogenic g.50686483G>A g.49478437G>A ERCC6(NM_000124.2):c.2203C>T (p.R735*) - ERCC6_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 - c.2287-2A>G r.spl? p.? - pathogenic g.50684358T>C g.49476312T>C ERCC6(NM_000124.2):c.2287-2A>G - ERCC6_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2382+823A>G r.(=) p.(=) - benign g.50683438T>C g.49475392T>C ERCC6(NM_000124.2):c.2382+823A>G - ERCC6_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., ?/. 3 - c.2390C>G r.(?) p.(Ser797Cys) - likely benign, VUS g.50682281G>C g.49474235G>C ERCC6(NM_000124.2):c.2390C>G (p.S797C) - ERCC6_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.2396T>G r.(?) p.(Leu799Arg) - VUS g.50682275A>C g.49474229A>C ERCC6(NM_000124.2):c.2396T>G (p.L799R) - ERCC6_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2406A>G r.(?) p.(Leu802=) - likely benign g.50682265T>C g.49474219T>C ERCC6(NM_000124.2):c.2406A>G (p.L802=) - ERCC6_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2551T>C r.(?) p.(Trp851Arg) - pathogenic g.50682120A>G g.49474074A>G ERCC6(NM_000124.2):c.2551T>C (p.W851R) - ERCC6_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2569C>T r.(?) p.(Arg857Ter) - pathogenic g.50682102G>A g.49474056G>A ERCC6(NM_000124.2):c.2569C>T (p.R857*) - ERCC6_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2591C>G r.(?) p.(Ser864*) - VUS g.50682080G>C g.49474034G>C - - ERCC6_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - c.2647C>T r.(?) p.(Leu883Phe) - VUS g.50681585G>A g.49473539G>A ERCC6(NM_000124.2):c.2647C>T (p.(Leu883Phe)) - ERCC6_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2648T>G r.(?) p.(Leu883Arg) - VUS g.50681584A>C g.49473538A>C ERCC6(NM_000124.2):c.2648T>G (p.L883R) - ERCC6_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.2741C>T r.(?) p.(Thr914Met) - likely benign, VUS g.50681043G>A g.49472997G>A ERCC6(NM_000124.2):c.2741C>T (p.T914M) - ERCC6_000047 2 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs142580756 CLASSIFICATION record, Germline - 2/2795 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
-/. 2 - c.2751C>T r.(?) p.(Gly917=) - benign g.50681033G>A g.49472987G>A ERCC6(NM_000124.2):c.2751C>T (p.G917=) - ERCC6_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.2766C>A r.(?) p.(Asn922Lys) - VUS g.50681018G>T g.49472972G>T ERCC6(NM_000124.2):c.2766C>A (p.(Asn922Lys)) - ERCC6_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2771C>T r.(?) p.(Thr924Met) - VUS g.50681013G>A g.49472967G>A ERCC6(NM_000124.2):c.2771C>T (p.(Thr924Met)) - ERCC6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.2825C>T r.(?) p.(Thr942Met) - benign g.50680959G>A g.49472913G>A - - ERCC6_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 - c.2839C>T r.(?) p.(Arg947Ter) - pathogenic g.50680507G>A g.49472461G>A ERCC6(NM_000124.2):c.2839C>T (p.R947*) - ERCC6_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.2875G>T r.(?) p.(Val959Leu) - likely benign g.50680471C>A g.49472425C>A - - ERCC6_000116 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs190863815 Germline - 1/2795 individuals - - - Mohammed Faruq
?/. 3 - c.2924G>A r.(?) p.(Arg975Gln) - VUS g.50680422C>T g.49472376C>T 2924C>T, ERCC6(NM_000124.2):c.2924G>A (p.R975Q) - ERCC6_000092 VKGL data sharing initiative Nederland PubMed: Duvvari 2016 - rs145720191 CLASSIFICATION record, Germline - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.2925-8T>A r.(=) p.(=) - likely benign g.50679174A>T g.49471128A>T ERCC6(NM_000124.2):c.2925-8T>A - ERCC6_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2934C>G r.(?) p.(Phe978Leu) - VUS g.50679157G>C g.49471111G>C ERCC6(NM_000124.2):c.2934C>G (p.F978L) - ERCC6_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2980C>T r.(?) p.(Arg994Trp) - VUS g.50679111G>A g.49471065G>A ERCC6(NM_000124.2):c.2980C>T (p.R994W) - ERCC6_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2990A>T r.(?) p.(Lys997Ile) - VUS g.50679101T>A g.49471055T>A ERCC6(NM_000124.2):c.2990A>T (p.K997I) - ERCC6_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.3010C>T r.(?) p.(Leu1004=) - benign g.50679081G>A g.49471035G>A ERCC6(NM_000124.2):c.3010C>T (p.L1004=) - ERCC6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3012A>G r.(?) p.(Leu1004=) - likely benign g.50679079T>C g.49471033T>C ERCC6(NM_000124.2):c.3012A>G (p.L1004=) - ERCC6_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.3061A>G r.(?) p.(Ile1021Val) - VUS g.50679030T>C g.49470984T>C ERCC6(NM_000124.2):c.3061A>G (p.I1021V) - ERCC6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/., ?/. 3 - c.3122A>C r.(?) p.(Gln1041Pro) - likely benign, VUS g.50678884T>G g.49470838T>G 1 more item - ERCC6_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.3129C>A r.(?) p.(Ala1043=) - likely benign g.50678877G>T g.49470831G>T ERCC6(NM_000124.2):c.3129C>A (p.A1043=) - ERCC6_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3177T>C r.(?) p.(Ser1059=) - likely benign g.50678829A>G g.49470783A>G ERCC6(NM_000124.2):c.3177T>C (p.S1059=) - ERCC6_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3186T>C r.(?) p.(Ser1062=) - likely benign g.50678820A>G g.49470774A>G ERCC6(NM_000124.2):c.3186T>C (p.S1062=) - ERCC6_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3187G>A r.(?) p.(Val1063Ile) - likely benign g.50678819C>T g.49470773C>T ERCC6(NM_000124.2):c.3187G>A (p.V1063I) - ERCC6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3223G>A r.(?) p.(Ala1075Thr) - VUS g.50678783C>T g.49470737C>T - - ERCC6_000124 variant found in controls PubMed: Liu 2015 - - Germline no - - - - LOVD
-?/. 1 - c.3229G>C r.(?) p.(Gly1077Arg) - likely benign g.50678777C>G g.49470731C>G ERCC6(NM_000124.2):c.3229G>C (p.G1077R) - ERCC6_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3244G>T r.(?) p.(Ala1082Ser) - VUS g.50678762C>A g.49470716C>A ERCC6(NM_000124.2):c.3244G>T (p.A1082S) - ERCC6_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.3284C>G r.(?) p.(Pro1095Arg) - likely benign g.50678722G>C g.49470676G>C ERCC6(NM_000124.2):c.3284C>G (p.P1095R) - ERCC6_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.3289A>G r.(?) p.(Met1097Val) - benign g.50678717T>C g.49470671T>C ERCC6(NM_000124.2):c.3289A>G (p.M1097V) - ERCC6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.3310A>T r.(?) p.(Asn1104Tyr) - VUS g.50678696T>A g.49470650T>A ERCC6(NM_000124.2):c.3310A>T (p.N1104Y) - ERCC6_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., ./. 3 - c.3391A>G r.(?) p.(Asn1131Asp) - likely benign, pathogenic g.50678615T>C g.49470569T>C ERCC6(NM_000124.2):c.3391A>G (p.N1131D) - ERCC6_000005 VKGL data sharing initiative Nederland PubMed: DDDS 2015, Journal: DDDS 2015 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam
-?/. 1 - c.3456T>G r.(?) p.(Gly1152=) - likely benign g.50678550A>C g.49470504A>C ERCC6(NM_001346440.1):c.3456T>G (p.G1152=) - ERCC6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3481A>C r.(?) p.(Ser1161Arg) - likely benign g.50678525T>G g.49470479T>G ERCC6(NM_001346440.1):c.3481A>C (p.S1161R) - ERCC6_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3482G>C r.(?) p.(Ser1161Thr) - likely benign g.50678524C>G g.49470478C>G ERCC6(NM_001346440.1):c.3482G>C (p.S1161T) - ERCC6_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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