All variants in the BCORL1 gene

Information The variants shown are described using the NM_021946.4 transcript reference sequence.

76 entries on 1 page. Showing entries 1 - 76.
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Effect     

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     
?/. - c.62G>A r.(?) p.(Arg21His) - VUS g.129139269G>A g.130005293G>A BCORL1(NM_021946.4):c.62G>A (p.R21H) - BCORL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.214C>T r.(?) p.(Arg72Trp) - VUS g.129146962C>T g.130012986C>T BCORL1(NM_001184772.2):c.214C>T (p.R72W), BCORL1(NM_021946.4):c.214C>T (p.(Arg72Trp)) - BCORL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.214C>T r.(?) p.(Arg72Trp) - likely benign g.129146962C>T - BCORL1(NM_001184772.2):c.214C>T (p.R72W), BCORL1(NM_021946.4):c.214C>T (p.(Arg72Trp)) - BCORL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.280G>A r.(?) p.(Asp94Asn) - likely benign g.129147028G>A g.130013052G>A BCORL1(NM_021946.4):c.280G>A (p.D94N) - BCORL1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.301T>C r.(?) p.(Tyr101His) - likely benign g.129147049T>C g.130013073T>C BCORL1(NM_001184772.2):c.301T>C (p.Y101H) - BCORL1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.331T>C - p.(Phe111Leu) - VUS g.129147079T>C g.130013103T>C - - BCORL1_000001 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - - - Yu Sun
?/. - c.331T>C - p.(Phe111Leu) - VUS g.129147079T>C g.130013103T>C - - BCORL1_000001 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - - - Yu Sun
-?/. - c.472G>A r.(?) p.(Gly158Arg) - likely benign g.129147220G>A g.130013244G>A BCORL1(NM_001184772.2):c.472G>A (p.G158R) - BCORL1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.494G>A r.(?) p.(Arg165Gln) - likely benign g.129147242G>A g.130013266G>A BCORL1(NM_001184772.2):c.494G>A (p.R165Q) - BCORL1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.513G>T r.(?) p.(Lys171Asn) - VUS g.129147261G>T g.130013285G>T BCORL1(NM_001184772.2):c.513G>T (p.K171N) - BCORL1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.516T>C r.(?) p.(Asn172=) - likely benign g.129147264T>C g.130013288T>C BCORL1(NM_021946.4):c.516T>C (p.(=)) - BCORL1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 0 c.625G>A r.(?) p.(G209S) - VUS g.129147373G>A g.130013397G>A G209S - BCORL1_000029 recurrent, found 17 times PubMed: Tarpey 2009 - - Germline - 17/208 cases - 0 - Lucy Raymond
?/. - c.629C>T r.(?) p.(Ser210Leu) - VUS g.129147377C>T - BCORL1(NM_001184772.2):c.629C>T (p.S210L) - BCORL1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.668T>G r.(?) p.(Val223Gly) - likely benign g.129147416T>G g.130013440T>G BCORL1(NM_001184772.2):c.668T>G (p.V223G) - BCORL1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.687C>T r.(?) p.(Ala229=) - likely benign g.129147435C>T - BCORL1(NM_001184772.2):c.687C>T (p.A229=) - BCORL1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.743C>G r.(?) p.(Pro248Arg) - VUS g.129147491C>G g.130013515C>G BCORL1(NM_001184772.2):c.743C>G (p.P248R) - BCORL1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.783G>A r.(?) p.(Ala261=) - likely benign g.129147531G>A g.130013555G>A BCORL1(NM_001184772.2):c.783G>A (p.A261=), BCORL1(NM_021946.4):c.783G>A (p.(=)) - BCORL1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.783G>A r.(?) p.(Ala261=) - likely benign g.129147531G>A - BCORL1(NM_001184772.2):c.783G>A (p.A261=), BCORL1(NM_021946.4):c.783G>A (p.(=)) - BCORL1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.801G>A r.(?) p.(Thr267=) - likely benign g.129147549G>A g.130013573G>A BCORL1(NM_001184772.2):c.801G>A (p.T267=) - BCORL1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.882G>A r.(?) p.(Pro294=) - likely benign g.129147630G>A g.130013654G>A BCORL1(NM_001184772.2):c.882G>A (p.P294=) - BCORL1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.883G>A r.(?) p.(Val295Ile) - VUS g.129147631G>A g.130013655G>A BCORL1(NM_021946.4):c.883G>A (p.(Val295Ile)) - BCORL1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.997G>A r.(?) p.(Val333Ile) - likely benign g.129147745G>A g.130013769G>A BCORL1(NM_021946.4):c.997G>A (p.(Val333Ile)) - BCORL1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1003A>C r.(?) p.(Thr335Pro) - VUS g.129147751A>C g.130013775A>C BCORL1(NM_021946.4):c.1003A>C (p.T335P) - BCORL1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1009G>A r.(?) p.(Val337Ile) - VUS g.129147757G>A g.130013781G>A BCORL1(NM_021946.4):c.1009G>A (p.(Val337Ile)) - BCORL1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1053C>T r.(?) p.(Ala351=) - likely benign g.129147801C>T - BCORL1(NM_001184772.2):c.1053C>T (p.A351=) - BCORL1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1060T>C r.(?) p.(Ser354Pro) - VUS g.129147808T>C g.130013832T>C BCORL1(NM_001184772.2):c.1060T>C (p.S354P) - BCORL1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1093G>A r.(?) p.(Gly365Ser) - VUS g.129147841G>A g.130013865G>A BCORL1(NM_021946.4):c.1093G>A (p.(Gly365Ser)) - BCORL1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. 0 c.1446G>A r.(?) p.(=) - likely benign g.129148194G>A g.130014218G>A P482P - BCORL1_000030 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
?/. - c.1472C>T r.(?) p.(Pro491Leu) - VUS g.129148220C>T g.130014244C>T BCORL1(NM_001184772.2):c.1472C>T (p.P491L) - BCORL1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1498C>T r.(?) p.(Arg500Cys) - VUS g.129148246C>T g.130014270C>T BCORL1(NM_001184772.2):c.1498C>T (p.R500C) - BCORL1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1509G>A r.(?) p.(Pro503=) - likely benign g.129148257G>A g.130014281G>A BCORL1(NM_021946.4):c.1509G>A (p.P503=) - BCORL1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1624G>A r.(?) p.(Asp542Asn) - VUS g.129148372G>A - BCORL1(NM_021946.4):c.1624G>A (p.D542N) - BCORL1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1677G>C r.(?) p.(Lys559Asn) - VUS g.129148425G>C g.130014449G>C BCORL1(NM_021946.4):c.1677G>C (p.(Lys559Asn)) - BCORL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1832T>C r.(?) p.(Met611Thr) - VUS g.129148580T>C - - - BCORL1_000075 - - - - De novo - - - - - Alejandro Brea-Fernández
-?/. 0 c.2064C>T r.(?) p.(=) - likely benign g.129148812C>T g.130014836C>T V688V - BCORL1_000011 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.2096C>T r.(?) p.(Pro699Leu) - VUS g.129148844C>T - BCORL1(NM_001184772.2):c.2096C>T (p.P699L) - BCORL1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2228G>A r.(?) p.(Arg743His) - VUS g.129148976G>A g.130015000G>A BCORL1(NM_021946.4):c.2228G>A (p.R743H) - BCORL1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2333A>G r.(?) p.(Gln778Arg) - VUS g.129149081A>G g.130015105A>G - - BCORL1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2356A>G r.(?) p.(Thr786Ala) - VUS g.129149104A>G g.130015128A>G BCORL1(NM_001184772.2):c.2356A>G (p.T786A) - BCORL1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2423C>T r.(?) p.(Thr808Met) - VUS g.129149171C>T g.130015195C>T BCORL1(NM_001184772.2):c.2423C>T (p.T808M) - BCORL1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2442del r.(?) p.(Arg816GlyfsTer37) - VUS g.129149190del g.130015214del BCORL1(NM_001184772.2):c.2442delT (p.R816Gfs*37) - BCORL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2459A>G r.(?) p.(Asn820Ser) - likely benign g.129149207A>G g.130015231A>G - - BCORL1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.2459A>G r.(?) p.(Asn820Ser) - likely pathogenic g.129149207A>G g.130015231A>G - - BCORL1_000026 - PubMed: Schuurs-Hoeijmakers 2013 - - Germline yes - - 0 - Johan den Dunnen
?/. - c.2495G>C r.(?) p.(Gly832Ala) - VUS g.129149243G>C - BCORL1(NM_001184772.2):c.2495G>C (p.G832A) - BCORL1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2505G>A r.(?) p.(Pro835=) - likely benign g.129149253G>A - BCORL1(NM_001184772.2):c.2505G>A (p.P835=) - BCORL1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2548G>A r.(?) p.(Gly850Arg) - likely benign g.129149296G>A g.130015320G>A BCORL1(NM_001184772.2):c.2548G>A (p.G850R) - BCORL1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2601G>A r.(?) p.(Ser867=) - benign g.129149349G>A g.130015373G>A BCORL1(NM_001184772.2):c.2601G>A (p.S867=) - BCORL1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2648G>A r.(?) p.(Gly883Glu) - likely benign g.129149396G>A g.130015420G>A BCORL1(NM_001184772.2):c.2648G>A (p.G883E) - BCORL1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 0 c.3143G>A r.(?) p.(R1048Q) - VUS g.129149891G>A g.130015915G>A R1048Q - BCORL1_000031 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.3143G>A r.(?) p.(Arg1048Gln) - likely benign g.129149891G>A - BCORL1(NM_001184772.2):c.3143G>A (p.R1048Q) - BCORL1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3158A>G r.(?) p.(Lys1053Arg) - likely benign g.129149906A>G g.130015930A>G BCORL1(NM_021946.4):c.3158A>G (p.(Lys1053Arg)) - BCORL1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. 0 c.3158A>G r.(?) p.(K1053R) - VUS g.129149906A>G g.130015930A>G K1053R - BCORL1_000016 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
-/. - c.3183T>C r.(?) p.(Asn1061=) - benign g.129149931T>C g.130015955T>C BCORL1(NM_001184772.2):c.3183T>C (p.N1061=) - BCORL1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3189C>T r.(?) p.(Ala1063=) - likely benign g.129149937C>T - BCORL1(NM_021946.4):c.3189C>T (p.(=)) - BCORL1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3238G>A r.(?) p.(Ala1080Thr) - likely benign g.129149986G>A g.130016010G>A BCORL1(NM_001184772.2):c.3238G>A (p.A1080T) - BCORL1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3269G>C r.(?) p.(Arg1090Pro) - VUS g.129150017G>C g.130016041G>C BCORL1(NM_021946.4):c.3269G>C (p.(Arg1090Pro)) - BCORL1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.3332C>T r.(?) p.(Thr1111Met) - benign g.129150080C>T g.130016104C>T BCORL1(NM_021946.4):c.3332C>T (p.T1111M, p.(Thr1111Met)) - BCORL1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.3332C>T r.(?) p.(Thr1111Met) - VUS g.129150080C>T g.130016104C>T BCORL1(NM_021946.4):c.3332C>T (p.T1111M, p.(Thr1111Met)) - BCORL1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.3344C>T r.(?) p.(Pro1115Leu) - VUS g.129150092C>T g.130016116C>T BCORL1(NM_001184772.2):c.3344C>T (p.P1115L) - BCORL1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3363C>T r.(?) p.(Cys1121=) - likely benign g.129150111C>T g.130016135C>T BCORL1(NM_021946.4):c.3363C>T (p.(=)) - BCORL1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3396C>G r.(?) p.(Leu1132=) - likely benign g.129150144C>G - BCORL1(NM_021946.4):c.3396C>G (p.(=)) - BCORL1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3415G>A r.(?) p.(Val1139Met) - likely benign g.129150163G>A g.130016187G>A BCORL1(NM_001184772.2):c.3415G>A (p.V1139M) - BCORL1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3444C>T r.(?) p.(Cys1148=) - likely benign g.129154962C>T g.130020987C>T BCORL1(NM_021946.4):c.3444C>T (p.(=)) - BCORL1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. 0 c.3601G>A r.(?) p.(E1201K) - VUS g.129155119G>A g.130021144G>A E1201K - BCORL1_000032 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.3745G>A r.(?) p.(Val1249Ile) - VUS g.129159021G>A g.130025046G>A BCORL1(NM_001184772.2):c.3745G>A (p.V1249I), BCORL1(NM_021946.4):c.3745G>A (p.(Val1249Ile)) - BCORL1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.3745G>A r.(?) p.(Val1249Ile) - VUS g.129159021G>A - BCORL1(NM_001184772.2):c.3745G>A (p.V1249I), BCORL1(NM_021946.4):c.3745G>A (p.(Val1249Ile)) - BCORL1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3833G>A r.(?) p.(Arg1278His) - likely benign g.129159109G>A g.130025134G>A BCORL1(NM_021946.4):c.3833G>A (p.R1278H) - BCORL1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. 0 c.4011C>T r.(?) p.(=) - likely benign g.129159287C>T g.130025312C>T S1337S - BCORL1_000033 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.4013G>A r.(?) p.(Arg1338Gln) - VUS g.129159289G>A - BCORL1(NM_001184772.2):c.4013G>A (p.R1338Q) - BCORL1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4061G>A r.(?) p.(Arg1354Gln) - likely benign g.129159337G>A g.130025362G>A BCORL1(NM_001184772.2):c.4061G>A (p.R1354Q) - BCORL1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4306-2837A>G r.(=) p.(=) - likely benign g.129168505A>G - BCORL1(NM_021946.4):c.4306-2837A>G - BCORL1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4642C>T r.(?) p.(Arg1548Trp) - likely benign g.129184715C>T g.130050740C>T BCORL1(NM_001184772.2):c.4864C>T (p.R1622W) - BCORL1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4659C>T r.(?) p.(Pro1553=) - likely benign g.129184732C>T - BCORL1(NM_001184772.2):c.4881C>T (p.P1627=) - BCORL1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4769C>T r.(?) p.(Pro1590Leu) - VUS g.129185907C>T g.130051932C>T BCORL1(NM_001184772.2):c.4991C>T (p.P1664L) - BCORL1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4851C>T r.(?) p.(Arg1617=) - VUS g.129185989C>T g.130052014C>T BCORL1(NM_021946.4):c.4851C>T (p.(=)) - BCORL1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.4870C>A r.(?) p.(Leu1624Ile) - likely benign g.129189845C>A g.130055870C>A BCORL1(NM_001184772.2):c.5092C>A (p.L1698I) - BCORL1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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