Full data view for gene CTCF

Information The variants shown are described using the NM_006565.3 transcript reference sequence.

95 entries on 1 page. Showing entries 1 - 95.
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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.-10+3805G>T r.(=) p.(=) Unknown - likely benign g.67608972G>T - CTCF(NM_006565.4):c.-10+3805G>T - CTCF_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10+10682G>A r.(=) p.(=) Unknown - likely benign g.67615849G>A - CTCF(NM_006565.4):c.-10+10682G>A - CTCF_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-9-2986T>C r.(=) p.(=) Unknown - likely benign g.67641741T>C - CTCF(NM_006565.4):c.-9-2986T>C - CTCF_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-9-1G>A r.spl? p.? Unknown - VUS g.67644726G>A g.67610823G>A - - CTCF_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.10G>A r.(?) p.(Asp4Asn) Unknown - VUS g.67644745G>A - CTCF(NM_006565.3):c.10G>A (p.(Asp4Asn)) - CTCF_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.142G>T r.(?) p.(Gly48Cys) Unknown - VUS g.67644877G>T - CTCF(NM_006565.4):c.142G>T (p.G48C) - CTCF_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.148dup r.(?) p.(Val50Glyfs*27) Unknown ACMG pathogenic g.67644883dup g.67610980dup 148dupG - CTCF_000010 - - - - De novo - - - - - DNA SEQ-NG - - DD 3 Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
+?/. - c.214C>T r.(?) p.(Gln72*) Unknown - likely pathogenic g.67644949C>T - CTCF(NM_006565.4):c.214C>T (p.Q72*) - CTCF_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.232A>G r.(?) p.(Met78Val) Unknown - VUS g.67644967A>G - CTCF(NM_006565.4):c.232A>G (p.M78V) - CTCF_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.236A>G r.(?) p.(Glu79Gly) Unknown - likely benign g.67644971A>G - CTCF(NM_006565.4):c.236A>G (p.(Glu79Gly)) - CTCF_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.370G>A r.(?) p.(Val124Ile) Unknown - VUS g.67645105G>A - CTCF(NM_006565.4):c.370G>A (p.(Val124Ile)) - CTCF_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.416A>C r.(?) p.(Glu139Ala) Unknown - likely benign g.67645151A>C - CTCF(NM_006565.4):c.416A>C (p.(Glu139Ala)) - CTCF_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.615_618del r.(?) p.(Lys206Profs*15) Unknown ACMG pathogenic g.67645350_67645353del g.67611447_67611450del - - CTCF_000032 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
+?/. - c.615_618del r.(?) p.(Lys206Profs*15) Unknown ACMG pathogenic g.67645350_67645353del g.67611447_67611450del - - CTCF_000032 - - - - Unknown - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
+/. - c.615_618del r.(?) p.(Lys206Profs*15) Unknown - pathogenic g.67645350_67645353del - CTCF(NM_006565.4):c.615_618delGAAA (p.K206Pfs*15) - CTCF_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.638G>A r.(?) p.(Arg213His) Unknown - VUS g.67645373G>A - CTCF(NM_006565.4):c.638G>A (p.R213H) - CTCF_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.688del r.(?) p.(Glu230Lysfs*20) Unknown ACMG pathogenic g.67645423del g.67611520del 688delG - CTCF_000008 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
-?/. - c.702G>T r.(?) p.(Glu234Asp) Unknown - likely benign g.67645437G>T g.67611534G>T CTCF(NM_006565.4):c.702G>T (p.(Glu234Asp), p.E234D) - CTCF_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.702G>T r.(?) p.(Glu234Asp) Unknown - VUS g.67645437G>T - CTCF(NM_006565.4):c.702G>T (p.(Glu234Asp), p.E234D) - CTCF_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.702G>T r.(?) p.(Glu234Asp) Unknown - likely benign g.67645437G>T - CTCF(NM_006565.4):c.702G>T (p.(Glu234Asp), p.E234D) - CTCF_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.707T>G r.(?) p.(Leu236Arg) Unknown - VUS g.67645442T>G g.67611539T>G - - CTCF_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.773_776del r.(?) p.(Lys258Argfs*4) Unknown ACMG pathogenic g.67645508_67645511del g.67611605_67611608del - - CTCF_000033 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
+?/. - c.782-2A>G r.spl? p.(Val262_Gly318del) Unknown ACMG likely pathogenic g.67645852A>G g.67611949A>G - - CTCF_000029 - - - - Germline - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
+?/. - c.782-2A>T r.spl p.? Maternal (confirmed) ACMG likely pathogenic g.67645852A>T g.67611949A>T - - CTCF_000065 detected in a proband, affected sibling and affected mother - ClinVar-3378409 - Germline yes - - - - DNA SEQ-NG-I peripheral blood WES ID - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
+?/. - c.782-1G>T r.spl p.(Val262_Gly318del) Unknown ACMG likely pathogenic g.67645853G>T g.67611950G>T - - CTCF_000028 - - - - Germline - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
?/. - c.791_793del r.(?) p.(Lys264del) Unknown - VUS g.67645863_67645865del - CTCF(NM_006565.3):c.791_793delAGA (p.(Lys264del)) - CTCF_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.804_805del r.(?) p.(Cys268Ter) Unknown - pathogenic g.67645876_67645877del g.67611973_67611974del CTCF(NM_006565.3):c.804_805delTG (p.C268*) - CTCF_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.804_805del r.(?) p.(Cys268*) Unknown ACMG pathogenic g.67645876_67645877del g.67611973_67611974del 804_805delTG - CTCF_000031 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
?/. - c.833G>A r.(?) p.(Arg278His) Unknown - VUS g.67645905G>A - - - CTCF_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.833G>T r.(?) p.(Arg278Leu) Unknown ACMG VUS g.67645905G>T g.67612002G>T - - CTCF_000020 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
?/. - c.833G>T r.(?) p.(Arg278Leu) Unknown - VUS g.67645905G>T - - - CTCF_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.848G>A r.(?) p.(Arg283His) Unknown ACMG likely pathogenic g.67645920G>A g.67612017G>A - - CTCF_000027 - - - - Somatic - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
./. - c.881A>C r.(?) p.(His294Pro) Unknown - pathogenic g.67645953A>C g.67612050A>C - - CTCF_000003 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+?/. - c.881A>C r.(?) p.(His294Pro) Unknown ACMG likely pathogenic g.67645953A>C g.67612050A>C - - CTCF_000003 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
+?/. - c.886T>G r.(?) p.(Cys296Gly) Unknown - likely pathogenic g.67645958T>G - CTCF(NM_006565.3):c.886T>G (p.(Cys296Gly)) - CTCF_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.952G>C r.(?) p.(Gly318Arg) Unknown - likely pathogenic g.67646024G>C - CTCF(NM_006565.3):c.952G>C (p.G318R) - CTCF_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.979T>A r.(?) p.(Cys327Ser) Unknown ACMG likely pathogenic g.67650674T>A g.67616771T>A - - CTCF_000021 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
+?/. - c.1006G>C r.(?) p.(Glu336Gln) Unknown ACMG likely pathogenic g.67650701G>C g.67616798G>C - - CTCF_000022 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
+?/. - c.1016G>A r.(?) p.(Arg339Gln) Unknown ACMG likely pathogenic g.67650711G>A g.67616808G>A - - CTCF_000025 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
+/. - c.1016G>A r.(?) p.(Arg339Gln) Unknown - pathogenic g.67650711G>A g.67616808G>A CTCF(NM_006565.3):c.1016G>A (p.R339Q) - CTCF_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1016G>A r.(?) p.(Arg339Gln) Unknown - pathogenic (dominant) g.67650711G>A g.67616808G>A - - CTCF_000025 - - - - De novo - - - - - DNA SEQ-NG-I - WES MRD21 - - - F - Viet Nam - - - - - 1 Tuan Nguyen
+?/. - c.1024C>T r.(?) p.(Arg342Cys) Unknown ACMG pathogenic g.67650719C>T g.67616816C>T - - CTCF_000026 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
+?/. - c.1024C>T r.(?) p.(Arg342Cys) Unknown ACMG pathogenic g.67650719C>T g.67616816C>T - - CTCF_000026 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
+?/. - c.1025G>A r.(?) p.(Arg342His) Unknown ACMG likely pathogenic g.67650720G>A g.67616817G>A - - CTCF_000019 - - - - Germline yes - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
+?/. - c.1025G>A r.(?) p.(Arg342His) Unknown - likely pathogenic g.67650720G>A - - - CTCF_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1029C>G r.(?) p.(Tyr343Ter) Unknown - likely pathogenic g.67650724C>G - CTCF(NM_006565.3):c.1029C>G (p.Y343*) - CTCF_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.1033C>T r.(?) p.(His345Tyr) Unknown ACMG likely pathogenic (dominant) g.67650728C>T g.67616825C>T - - CTCF_000046 - PubMed: Squeo 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - 68-gene panel ? GDB1200 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - 1 Johan den Dunnen
?/. - c.1042G>A r.(?) p.(Glu348Lys) Unknown - VUS g.67650737G>A - - - CTCF_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1078A>C r.(?) p.(Ser360Arg) Unknown ACMG VUS g.67650773A>C g.67616870A>C - - CTCF_000024 - - - - Germline - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
-?/. - c.1086+10C>G r.(=) p.(=) Unknown - likely benign g.67650791C>G - CTCF(NM_006565.3):c.1086+10C>G - CTCF_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1102C>T r.(?) p.(Arg368Cys) Unknown - pathogenic g.67654615C>T g.67620712C>T - - CTCF_000002 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+?/. - c.1102C>T r.(?) p.(Arg368Cys) Unknown ACMG pathogenic g.67654615C>T g.67620712C>T - - CTCF_000002 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
+?/. - c.1102C>T r.(?) p.(Arg368Cys) Unknown ACMG pathogenic g.67654615C>T g.67620712C>T - - CTCF_000002 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
+?/. - c.1103G>A r.(?) p.(Arg368His) Unknown ACMG pathogenic g.67654616G>A g.67620713G>A - - CTCF_000023 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
+?/. - c.1117C>G r.(?) p.(His373Asp) Unknown ACMG pathogenic g.67654630C>G g.67620727C>G - - CTCF_000018 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
+?/. - c.1118A>C r.(?) p.(His373Pro) Unknown ACMG likely pathogenic g.67654631A>C g.67620728A>C - - CTCF_000017 - - - - Germline - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
?/. - c.1118A>C r.(?) p.(His373Pro) Unknown - VUS g.67654631A>C g.67620728A>C - - CTCF_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1120A>G r.(?) p.(Thr374Ala) Unknown ACMG VUS g.67654633A>G g.67620730A>G - - CTCF_000041 ACMG: PM2,PP3 - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+?/. - c.1130G>A r.(?) p.(Arg377His) Unknown ACMG pathogenic g.67654643G>A g.67620740G>A - - CTCF_000016 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
+?/. - c.1130G>A r.(?) p.(Arg377His) Unknown ACMG pathogenic g.67654643G>A g.67620740G>A - - CTCF_000016 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
+/. - c.1130G>A r.(?) p.(Arg377His) Unknown - pathogenic g.67654643G>A g.67620740G>A CTCF(NM_006565.3):c.1130G>A (p.R377H) - CTCF_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1133C>T r.(?) p.(Pro378Leu) Unknown - pathogenic g.67654646C>T g.67620743C>T - - CTCF_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+?/. - c.1133C>T r.(?) p.(Pro378Leu) Unknown ACMG pathogenic g.67654646C>T g.67620743C>T - - CTCF_000001 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
+?/. - c.1133C>T r.(?) p.(Pro378Leu) Unknown ACMG pathogenic g.67654646C>T g.67620743C>T - - CTCF_000001 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
+?/. - c.1168G>A r.(?) p.(Asp390Asn) Unknown ACMG likely pathogenic g.67654681G>A g.67620778G>A - - CTCF_000015 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
+?/. 6 c.1169A>G r.(1169A>G) p.(Asp390Gly) Unknown ACMG likely pathogenic g.67654682A>G g.67620779A>G - - CTCF_000068 - - ClinVar-3387773 - De novo - - - - - DNA SEQ-NG-I peripheral blood CES NDD - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
+?/. - c.1226G>A r.(?) p.(Cys409Tyr) Unknown ACMG likely pathogenic g.67655363G>A g.67621460G>A - - CTCF_000014 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
-?/. - c.1243C>T r.(?) p.(Arg415Trp) Unknown - likely benign g.67655380C>T g.67621477C>T - - CTCF_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1336A>G r.(?) p.(Ile446Val) Unknown - VUS g.67655473A>G - - - CTCF_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1342C>T r.(?) p.(Arg448Ter) Unknown - likely pathogenic g.67655479C>T g.67621576C>T CTCF(NM_006565.4):c.1342C>T (p.R448*) - CTCF_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1343G>A r.(?) p.(Arg448Gln) Unknown ACMG pathogenic g.67655480G>A g.67621577G>A - - CTCF_000013 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
+?/. - c.1343G>A r.(?) p.(Arg448Gln) Unknown ACMG pathogenic g.67655480G>A g.67621577G>A - - CTCF_000013 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
+?/. - c.1357+2201_1518+520del r.(?) p.(Val454Glufs*23) Unknown ACMG pathogenic g.67657695_67661138del g.67623792_67627235del - - CTCF_000012 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
+?/. - c.1418A>G r.(?) p.(Asp473Gly) Unknown ACMG VUS (!) g.67660518A>G - - - CTCF_000047 ACMG: PS2_moderat, PM2, PP2: class 3 - - - De novo ? - - - - DNA SEQ-NG-I - - MRD21 - - prenatal testing ? ? Germany - - - - - 1 Andreas Laner
+/. - c.1454A>G r.(?) p.(His485Arg) Unknown - pathogenic g.67660554A>G g.67626651A>G CTCF(NM_006565.3):c.1454A>G (p.H485R) - CTCF_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1519-699G>A r.(=) p.(=) Unknown - likely benign g.67661574G>A - CTCF(NM_006565.4):c.1519-699G>A - CTCF_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1531dup r.(?) p.(Ile511Asnfs*20) Unknown - pathogenic g.67662285dup - CTCF(NM_006565.4):c.1531dupA (p.I511Nfs*20) - CTCF_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1543C>T r.(?) p.(Arg515Cys) Unknown - VUS g.67662297C>T - - - CTCF_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1568dup r.(?) p.(Tyr523*) Unknown - likely pathogenic g.67662322dup - CTCF(NM_006565.3):c.1568dup (p.(Tyr523*)) - CTCF_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1585G>A r.(?) p.(Asp529Asn) Unknown - VUS g.67662339G>A g.67628436G>A - - CTCF_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1585G>A r.(?) p.(Asp529Asn) Unknown ACMG VUS g.67662339G>A g.67628436G>A - - CTCF_000009 - - - - Germline - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
?/. - c.1586A>G r.(?) p.(Asp529Gly) Unknown - VUS g.67662340A>G - CTCF(NM_006565.4):c.1586A>G (p.D529G) - CTCF_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1670_1674del r.(?) p.(Cys557*) Unknown - likely pathogenic g.67662424_67662428del g.67628521_67628525del different transcript: NM_006565.3:c.1670_1674del; p.Cys557* - CTCF_000049 - PubMed: Nair 2018 - rs886041901 Unknown ? - - - - DNA SEQ-NG-I - whole exome sequencing MRD21 ? PubMed: Nair 2018 - ? - Lebanon - - - - - 1 LOVD
+?/. - c.1699C>T r.(?) p.(Arg567Trp) Unknown ACMG pathogenic g.67662453C>T g.67628550C>T - - CTCF_000011 - - - - De novo - - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
-?/. - c.1702-216G>A r.(=) p.(=) Unknown - likely benign g.67663085G>A - CTCF(NM_006565.4):c.1702-216G>A - CTCF_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1702-10T>C r.(=) p.(=) Unknown - benign g.67663291T>C g.67629388T>C CTCF(NM_006565.3):c.1702-10T>C - CTCF_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1747G>A r.(?) p.(Val583Ile) Unknown - likely benign g.67663346G>A - CTCF(NM_006565.3):c.1747G>A (p.(Val583Ile)) - CTCF_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1755G>A r.(?) p.(Gly585=) Unknown - likely benign g.67663354G>A - CTCF(NM_006565.3):c.1755G>A (p.G585=) - CTCF_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1860C>T r.(?) p.(Asp620=) Unknown - likely benign g.67670615C>T g.67636712C>T CTCF(NM_006565.3):c.1860C>T (p.D620=) - CTCF_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.1883C>T r.(?) p.(Pro628Leu) Unknown ACMG VUS g.67670638C>T g.67636735C>T - - CTCF_000058 ACMG: PS2_SUP, PM2_SUP, PP2, BP4_MOD - - - De novo - - - - - DNA SEQ-NG-I Blood - MRD21 282574 - - F no ? (unknown) - - - - - 1 Andreas Laner
?/. - c.1918C>T r.(?) p.(Pro640Ser) Unknown - VUS g.67670673C>T - CTCF(NM_006565.3):c.1918C>T (p.P640S) - CTCF_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1927C>T r.(?) p.(Pro643Ser) Unknown - likely benign g.67670682C>T g.67636779C>T CTCF(NM_006565.3):c.1927C>T (p.P643S), CTCF(NM_006565.4):c.1927C>T (p.P643S) - CTCF_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1927C>T r.(?) p.(Pro643Ser) Unknown - likely benign g.67670682C>T - CTCF(NM_006565.3):c.1927C>T (p.P643S), CTCF(NM_006565.4):c.1927C>T (p.P643S) - CTCF_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1960C>T r.(?) p.(Arg654*) Unknown ACMG likely pathogenic g.67670715C>T g.67636812C>T - - CTCF_000030 - - - - Germline no - - - - DNA SEQ-NG - - DD - Konrad 2019, submitted - - - - - - - - - 1 Christiane Zweier
-?/. - c.2116C>T r.(?) p.(Pro706Ser) Unknown - likely benign g.67671707C>T - CTCF(NM_006565.3):c.2116C>T (p.(Pro706Ser)) - CTCF_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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