Full data view for gene CTCF

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

170 entries on 2 pages. Showing entries 1 - 100.
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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.(?_-862850)_(*3162128_?)del r.0 p.0 Unknown ACMG pathogenic (dominant) g.(?_66700001)_(70800000_?)del g.(?_66600001)_(70800000_?)del - - CTCF_000085 16q22.1 348 Kb deletion (CTCF plus 8 genes) PubMed: Valverde de Morales 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat25 PubMed: Valverde de Morales 2023 patient F - - - - - - - 1 Johan den Dunnen
+/. - c.(?_-848141)_(*1288279_?)del r.0 p.0 Unknown ACMG pathogenic (dominant) g.(?_66748613)_(68960054_?)del g.(?_66714710)_(68926151_?)del - arr[CRCh37] 16q22.1 (66748613_68960054)x1 CTCF_000086 - PubMed: Valverde de Morales 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat40 PubMed: Valverde de Morales 2023 patient F - - - - - - - 1 Johan den Dunnen
+/. - c.(?_-496754)_(*528225_?)del r.0 p.0 Unknown - pathogenic (dominant) g.(?_67100000)_(68200000_?)del g.(?_67066097)_(68166097_?)del - - CTCF_000087 1.1 Mb deletion at 16q22.1 (67.1–68.2 Mb) PubMed: Hori 2017 - - De novo - - - - - DNA arrayCGH - - NDD Pat1 PubMed: Hori 2017 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - 1 Johan den Dunnen
+/. - c.(?_-296754)_(*1228225_?)del r.0 p.0 Unknown - pathogenic (dominant) g.(?_67300000)_(68900000_?)del g.(?_67266097)_(68866097_?)del - - CTCF_000088 1.6 Mb deletion at 16q22.1 (67.3–68.9 Mb) PubMed: Hori 2017 - - De novo - - - - - DNA arrayCGH - - NDD Pat2 PubMed: Hori 2017 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - 1 Johan den Dunnen
+?/. - c.(?_-250903)_(*1227771_?)del r.0 p.0 Unknown - likely pathogenic (dominant) g.(?_67345851)_(68899546_?)del g.(?_67311948)_(68865643_?)del arr[GRCh37] 16q22.1(67345851_68899546)x1 - CTCF_000080 1.5 Mb deletion of CTCF and 42 other genes PubMed: Konrad 2019 - - De novo - - - - - DNA arrayCGH - - DD Pat1 PubMed: Konrad 2019 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_-8478)_(*501684_?)del r.0? p.0? Unknown - likely pathogenic (dominant) g.6(?_7588276)_(68173459_?)del g.(?_67554373)_(68139556_?)del arr[GRCh37] 16q22.1(67588276_68173459)x1 - CTCF_000081 0.58 Mb deletion incl. partially CTCF and 26 other genes PubMed: Konrad 2019 - - De novo - - - - - DNA arrayCGH - - DD Pat2 PubMed: Konrad 2019 - F - - - - - - - 1 Johan den Dunnen
-?/. - 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.-(?_195768)_(*6135_?)del r.0 p.0 Unknown - pathogenic (dominant) g.(?_67400986)_(67677910_?)del g.(?_67367083)_(67644007_?)del hg19 67400986_67677910x1 - CTCF_000082 277kb deletion incl CTCF PubMed: Gregor 2013 - - De novo - - - - - DNA arrayCGH - - ID Pat4 PubMed: Gregor 2013 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - 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 (dominant) g.67644883dup g.67610980dup 148dupG - CTCF_000010 - PubMed: Konrad 2019 - - De novo - - - - - DNA SEQ-NG - - DD Pat3 PubMed: Konrad 2019 - M - - - - - - - 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.329dup r.(?) p.(Gly111ArgfsTer29) Unknown - pathogenic (dominant) g.67645064dup g.67611161dup 329dupT - CTCF_000090 - PubMed: Chen 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3 PubMed: Chen 2019 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - 1 Johan den Dunnen
?/. - 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.375dup r.0 p.0 Unknown - pathogenic (dominant) g.67645110dup g.67611207dup 375dupT - CTCF_000083 in RNA variant not detected (nonsense mediated mRNA decay) PubMed: Gregor 2013 - - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ID Pat1 PubMed: Gregor 2013 2-generation family, 1 affected, unaffected non-carrier parents M - Germany - - - - - 1 Johan den Dunnen
-?/. - 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.532_538del r.(?) p.(Leu178LysfsTer42) Unknown ACMG pathogenic (dominant) g.67645267_67645273del g.67611364_67611370del - - CTCF_000091 ACMG PVS1, PM2, PM6_sup PubMed: Valverde de Morales 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat1 PubMed: Valverde de Morales 2023 patient F - - - - - - - 1 Johan den Dunnen
+?/. - c.615_618del r.(?) p.(Lys206Profs*15) Unknown ACMG pathogenic (dominant) g.67645350_67645353del g.67611447_67611450del - - CTCF_000032 - PubMed: Konrad 2019 - - De novo - - - - - DNA SEQ-NG - - DD Pat4 PubMed: Konrad 2019 - F - - - - - - - 1 Christiane Zweier
+?/. - c.615_618del r.(?) p.(Lys206Profs*15) Unknown ACMG pathogenic (dominant) g.67645350_67645353del g.67611447_67611450del - - CTCF_000032 - PubMed: Konrad 2019 - - Unknown - - - - - DNA SEQ-NG - - DD Pat5 PubMed: Konrad 2019 - M - - - - - - - 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.615_618del r.(?) p.(Lys206ProfsTer15) Unknown - pathogenic (dominant) g.67645350_67645353del g.67611447_67611450del 612delAAAG - CTCF_000032 - PubMed: Bastaki 2017 - - De novo - - - - - DNA SEQ-NG - WES ID patient PubMed: Bastaki 2017 3-generation family, 1 affected, unaffected non-carrier parents F yes United Arab Emirates - - - - - 1 Johan den Dunnen
+/. - c.615_618del r.(?) p.(Lys206ProfsTer15) Unknown - pathogenic (dominant) g.67645350_67645353del g.67611447_67611450del 615_618delGAAA - CTCF_000032 - PubMed: Chen 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1 PubMed: Chen 2019 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - 1 Johan den Dunnen
+/. - c.615_618del r.(?) p.(Lys206ProfsTer15) Unknown ACMG pathogenic (dominant) g.67645350_67645353del g.67611447_67611450del - - CTCF_000032 ACMG PVS1, PM2, PM6 PubMed: Valverde de Morales 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat5 PubMed: Valverde de Morales 2023 patient F - - - - - - - 1 Johan den Dunnen
+/. - c.615_618del r.(?) p.(Lys206ProfsTer15) Unknown ACMG pathogenic (dominant) g.67645350_67645353del g.67611447_67611450del - - CTCF_000032 ACMG PVS1, PM2, PM6 PubMed: Valverde de Morales 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat33 PubMed: Valverde de Morales 2023 patient F - - - - - - - 1 Johan den Dunnen
?/. - 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.677A>G r.(?) p.(Tyr226Cys) Unknown ACMG likely pathogenic (dominant) g.67645412A>G g.67611509A>G - - CTCF_000092 ACMG PM2, PP2, PM6_sup, PM1, PS3_sup PubMed: Valverde de Morales 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat44 PubMed: Valverde de Morales 2023 patient M - - - - - - - 1 Johan den Dunnen
+?/. - c.688del r.(?) p.(Glu230Lysfs*20) Unknown ACMG pathogenic (dominant) g.67645423del g.67611520del 688delG - CTCF_000008 - PubMed: Konrad 2019 - - De novo - - - - - DNA SEQ-NG - - DD Pat6 PubMed: Konrad 2019 - M - - - - - - - 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 (dominant) g.67645508_67645511del g.67611605_67611608del - - CTCF_000033 - PubMed: Konrad 2019 - - De novo - - - - - DNA SEQ-NG - - DD Pat7 PubMed: Konrad 2019 - F - - - - - - - 1 Christiane Zweier
+/. - c.778_781del r.(?) p.(Lys260ValfsTer2) Unknown ACMG pathogenic (dominant) g.67645513_67645516del g.67611610_67611613del - - CTCF_000089 ACMG PVS1, PM2, PM6_sup PubMed: Wang 2020, PubMed: Valverde de Morales 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Courchesne_V4U6N;Pat2 PubMed: Wang 2020, PubMed: Valverde de Morales 2023 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
+?/. - c.782-2A>G r.spl? p.(Val262_Gly318del) Unknown ACMG likely pathogenic (dominant) g.67645852A>G g.67611949A>G - - CTCF_000029 - PubMed: Konrad 2019 - - Germline - - - - - DNA SEQ-NG - - DD Pat11 PubMed: Konrad 2019 - M - - - - - - - 1 Christiane Zweier
+?/. - c.782-2A>G r.(782_952del) p.(Val262_Gly318del) Unknown ACMG likely pathogenic (dominant) g.67645852A>G g.67611949A>G - - CTCF_000029 ACMG PVS1, PM2, PM6_sup PubMed: Valverde de Morales 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat10 PubMed: Valverde de Morales 2023 patient F - - - - - - - 1 Johan den Dunnen
+?/. - 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
+?/. 3i c.782-1G>T r.782_952del p.Val262_Gly318del Unknown ACMG likely pathogenic (dominant) g.67645853G>T g.67611950G>T - - CTCF_000028 - PubMed: Konrad 2019 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - DD Pat12 PubMed: Konrad 2019 - F - - - - - - - 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 (dominant) g.67645876_67645877del g.67611973_67611974del 804_805delTG - CTCF_000031 - PubMed: Konrad 2019 - - De novo - - - - - DNA SEQ-NG - - DD Pat8 PubMed: Konrad 2019 - M - - - - - - - 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 - PubMed: Konrad 2019 - - De novo - - - - - DNA SEQ-NG - - DD Pat37 PubMed: Konrad 2019 - F - - - - - - - 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 (dominant) g.67645920G>A g.67612017G>A - - CTCF_000027 - PubMed: Konrad 2019 - - Somatic - - - - - DNA SEQ-NG - - DD Pat13 PubMed: Konrad 2019 - M - - - - - - - 1 Christiane Zweier
+?/. - c.848G>A r.(?) p.(Arg283His) Unknown - likely pathogenic (dominant) g.67645920G>A g.67612017G>A - - CTCF_000027 - PubMed: Wang 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - gene panel NDD Leuven2_63675045 PubMed: Wang 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Belgium - - - - - 1 Johan den Dunnen
+?/. - c.862C>T r.(?) p.(His288Tyr) Unknown ACMG likely pathogenic (dominant) g.67645934C>T g.67612031C>T - - CTCF_000093 ACMG PM2, PM1, PP2, PM6_sup, PP3 PubMed: Valverde de Morales 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat23 PubMed: Valverde de Morales 2023 patient M - - - - - - - 1 Johan den Dunnen
./. - 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 (dominant) g.67645953A>C g.67612050A>C - - CTCF_000003 - PubMed: Konrad 2019 - - De novo - - - - - DNA SEQ-NG - - DD Pat14 PubMed: Konrad 2019 - M - - - - - - - 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.897_898del r.(?) p.(Cys299TrpfsTer15) Unknown ACMG pathogenic (dominant) g.67645969_67645970del g.67612066_67612067del 897_898delTG - CTCF_000094 ACMG PVS1, PM2, PM6 PubMed: Valverde de Morales 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat30 PubMed: Valverde de Morales 2023 patient F - - - - - - - 1 Johan den Dunnen
+?/. - c.934del r.(?) p.(His312ThrfsTer21) Unknown ACMG likely pathogenic (dominant) g.67646006del g.67612103del - - CTCF_000095 ACMG PVS1, PM2 PubMed: Valverde de Morales 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat12 PubMed: Valverde de Morales 2023 patient M - - - - - - - 1 Johan den Dunnen
+?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.959G>A r.(?) p.(Arg320His) Unknown ACMG likely pathogenic (!) g.67650654G>A g.67616751G>A - - CTCF_000079 inherited from an apparently unaffected mother - ClinVar-2443598 rs2142839315 Germline - - - - - DNA SEQ-NG-I peripheral blood WES NDD - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
+?/. - c.979T>A r.(?) p.(Cys327Ser) Unknown ACMG likely pathogenic (dominant) g.67650674T>A g.67616771T>A - - CTCF_000021 - PubMed: Konrad 2019 - - De novo - - - - - DNA SEQ-NG - - DD Pat15 PubMed: Konrad 2019 - M - - - - - - - 1 Christiane Zweier
+?/. - c.1003G>A r.(?) p.(Gly335Arg) Unknown ACMG likely pathogenic (dominant) g.67650698G>A g.67616795G>A - - CTCF_000096 ACMG PM2, PP2, PM6_sup, PM1 PubMed: Valverde de Morales 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat42 PubMed: Valverde de Morales 2023 patient M - - - - - - - 1 Johan den Dunnen
+/. - c.1004del r.(?) p.(Gly335GlufsTer27) Unknown - pathogenic (dominant) g.67650699del g.67616796del - - CTCF_000097 - PubMed: Wang 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel NDD Swedish_267-09D PubMed: Wang 2020 patient F - Sweden - - - - - 1 Johan den Dunnen
+?/. - c.1006G>C r.(?) p.(Glu336Gln) Unknown ACMG likely pathogenic (dominant) g.67650701G>C g.67616798G>C - - CTCF_000022 - PubMed: Konrad 2019 - - De novo - - - - - DNA SEQ-NG - - DD Pat16 PubMed: Konrad 2019 - F - - - - - - - 1 Christiane Zweier
+?/. - c.1016G>A r.(?) p.(Arg339Gln) Unknown ACMG likely pathogenic (dominant) g.67650711G>A g.67616808G>A - - CTCF_000025 - PubMed: Konrad 2019 - - De novo - - - - - DNA SEQ-NG - - DD Pat17 PubMed: Konrad 2019 - F - - - - - - - 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.1016G>A r.(?) p.(Arg339Gln) Unknown ACMG pathogenic (dominant) g.67650711G>A g.67616808G>A - - CTCF_000025 ACMG PM2, PP2, PM6_str, PM1, PS3 PubMed: Valverde de Morales 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat11 PubMed: Valverde de Morales 2023 patient F - - - - - - - 1 Johan den Dunnen
+/. - c.1016G>A r.(?) p.(Arg339Gln) Unknown ACMG pathogenic (dominant) g.67650711G>A g.67616808G>A - - CTCF_000025 ACMG PM2, PP2, PM6_str, PM1, PS3 PubMed: Valverde de Morales 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat13 PubMed: Valverde de Morales 2023 patient F - - - - - - - 1 Johan den Dunnen
+/. - c.1016G>A r.(?) p.(Arg339Gln) Unknown ACMG pathogenic (dominant) g.67650711G>A g.67616808G>A - - CTCF_000025 ACMG PM2, PP2, PM6_str, PM1, PS3 PubMed: Valverde de Morales 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat24 PubMed: Valverde de Morales 2023 patient F - - - - - - - 1 Johan den Dunnen
?/. - c.1016G>A r.(?) p.(Arg339Gln) Unknown ACMG pathogenic (dominant) g.67650711G>A g.67616808G>A - - CTCF_000025 ACMG PM2, PP2, PM6_str, PM1, PS3 PubMed: Valverde de Morales 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat29 PubMed: Valverde de Morales 2023 patient M - - - - - - - 1 Johan den Dunnen
+/. - c.1016G>A r.(?) p.(Arg339Gln) Unknown ACMG pathogenic (dominant) g.67650711G>A g.67616808G>A - - CTCF_000025 ACMG PM2, PP2, PM6_str, PM1, PS3 PubMed: Valverde de Morales 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat45 PubMed: Valverde de Morales 2023 patient M - - - - - - - 1 Johan den Dunnen
+?/. - c.1016G>A r.(?) p.(Arg339Gln) Unknown - likely pathogenic (dominant) g.67650711G>A g.67616808G>A - - CTCF_000025 - PubMed: Wang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel NDD Swedish_1209-11D PubMed: Wang 2020 2-generation family, 1 affected, carrier mother M - Sweden - - - - - 1 Johan den Dunnen
+?/. - c.1024C>T r.(?) p.(Arg342Cys) Unknown ACMG pathogenic (dominant) g.67650719C>T g.67616816C>T - - CTCF_000026 - PubMed: Konrad 2019 - - De novo - - - - - DNA SEQ-NG - - DD Pat18 PubMed: Konrad 2019 - M - - - - - - - 1 Christiane Zweier
+?/. - c.1024C>T r.(?) p.(Arg342Cys) Unknown ACMG pathogenic (dominant) g.67650719C>T g.67616816C>T - - CTCF_000026 - PubMed: Konrad 2019 - - De novo - - - - - DNA SEQ-NG - - DD Pat19 PubMed: Konrad 2019 - F - - - - - - - 1 Christiane Zweier
+?/. - c.1024C>T r.(?) p.(Arg342Cys) Unknown - likely pathogenic (dominant) g.67650719C>T g.67616816C>T - - CTCF_000026 - PubMed: Wang 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - gene panel NDD Swedish_2692-11D PubMed: Wang 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Sweden - - - - - 1 Johan den Dunnen
+?/. - c.1025G>A r.(?) p.(Arg342His) Paternal (confirmed) ACMG likely pathogenic (dominant) g.67650720G>A g.67616817G>A - - CTCF_000019 - PubMed: Konrad 2019 - - Germline yes - - - - DNA SEQ-NG - - DD Pat20-twin1 PubMed: Konrad 2019 2-generation family, affected twin pair M - - - - - - - 3 Christiane Zweier
+?/. - c.1025G>A r.(?) p.(Arg342His) Unknown - likely pathogenic g.67650720G>A - - - CTCF_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1025G>A r.(?) p.(Arg342His) Paternal (confirmed) - likely pathogenic (dominant) g.67650720G>A g.67616817G>A - - CTCF_000019 - PubMed: Konrad 2019 - - Germline yes - - - - DNA SEQ-NG - - DD Pat21-twin2 PubMed: Konrad 2019 twin sister F - - - - - - - 1 Johan den Dunnen
+?/. - c.1025G>A r.(?) p.(Arg342His) Unknown ACMG likely pathogenic (dominant) g.67650720G>A g.67616817G>A - - CTCF_000019 - PubMed: Konrad 2019 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - ID Pat22 PubMed: Konrad 2019 father M - - - - - - - 1 Johan den Dunnen
+?/. - c.1028A>G r.(?) p.(Tyr343Cys) Unknown - likely pathogenic g.67650723A>G g.67616820A>G - - CTCF_000077 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
?/. - c.1029C>A r.(?) p.(Tyr343Ter) Unknown ACMG pathogenic (dominant) g.67650724C>A g.67616821C>A - - CTCF_000098 ACMG PVS1, PM2, PM6_sup PubMed: Valverde de Morales 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat28 PubMed: Valverde de Morales 2023 patient M - - - - - - - 1 Johan den Dunnen
+/. - c.1029C>A r.(?) p.(Tyr343Ter) Unknown - pathogenic (dominant) g.67650724C>A g.67616821C>A - - CTCF_000098 variant not maternal PubMed: Wang 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel NDD SAGE_BK405.03 PubMed: Wang 2020 2-generation family, 1 affected, unaffected non-carrier mother M - United States - - - - - 1 Johan den Dunnen
+?/. - 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.1039del r.(?) p.(His347ThrfsTer15) Unknown - pathogenic (dominant) g.67650734del g.67616831del 1037delC - CTCF_000099 - PubMed: Wang 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - gene panel NDD Antwerp_190102 PubMed: Wang 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Belgium - - - - - 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 - PubMed: Konrad 2019 - - Germline - - - - - DNA SEQ-NG - - DD Pat38 PubMed: Konrad 2019 - M - - - - - - - 1 Christiane Zweier
+?/. - c.1079G>A r.(?) p.(Ser360Asn) Unknown ACMG likely pathogenic (dominant) g.67650774G>A g.67616871G>A - - CTCF_000100 ACMG PM2, PM6, PP2, PP3 PubMed: Valverde de Morales 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat6 PubMed: Valverde de Morales 2023 patient F - - - - - - - 1 Johan den Dunnen
+?/. - c.1079G>A r.(?) p.(Ser360Asn) Unknown ACMG likely pathogenic (dominant) g.67650774G>A g.67616871G>A - - CTCF_000100 ACMG PM2, PM6, PP2, PP3 PubMed: Valverde de Morales 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat22 PubMed: Valverde de Morales 2023 patient M - - - - - - - 1 Johan den Dunnen
-?/. - 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.1094A>G r.(?) p.(Lys365Arg) Unknown - likely pathogenic (dominant) g.67654607A>G g.67620704A>G - - CTCF_000101 - PubMed: Wang 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - gene panel NDD BCM_9245464 PubMed: Wang 2020 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
./. - 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 (dominant) g.67654615C>T g.67620712C>T - - CTCF_000002 - PubMed: Konrad 2019 - - De novo - - - - - DNA SEQ-NG - - DD Pat23 PubMed: Konrad 2019 - F - - - - - - - 1 Christiane Zweier
+?/. - c.1102C>T r.(?) p.(Arg368Cys) Unknown ACMG pathogenic (dominant) g.67654615C>T g.67620712C>T - - CTCF_000002 - PubMed: Konrad 2019 - - De novo - - - - - DNA SEQ-NG - - DD Pat24 PubMed: Konrad 2019 - M - - - - - - - 1 Christiane Zweier
+/. - c.1102C>T r.(?) p.(Arg368Cys) Unknown ACMG pathogenic (dominant) g.67654615C>T g.67620712C>T - - CTCF_000002 ACMG PM2, PP2, PM6_vs, PM1 PubMed: Valverde de Morales 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat32 PubMed: Valverde de Morales 2023 patient F - - - - - - - 1 Johan den Dunnen
+/. - c.1102C>T r.(?) p.(Arg368Cys) Unknown ACMG pathogenic (dominant) g.67654615C>T g.67620712C>T - - CTCF_000002 ACMG PM2, PP2, PM6_Very str, PM1 PubMed: Valverde de Morales 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat41 PubMed: Valverde de Morales 2023 patient M - - - - - - - 1 Johan den Dunnen
+?/. - c.1102C>T r.(?) p.(Arg368Cys) Unknown - likely pathogenic (dominant) g.67654615C>T g.67620712C>T - - CTCF_000002 - PubMed: Wang 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - gene panel NDD Czech_PRG047 PubMed: Wang 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Czech Republic - - - - - 1 Johan den Dunnen
+?/. - c.1103G>A r.(?) p.(Arg368His) Unknown ACMG pathogenic (dominant) g.67654616G>A g.67620713G>A - - CTCF_000023 - PubMed: Konrad 2019 - - De novo - - - - - DNA SEQ-NG - - DD Pat25 PubMed: Konrad 2019 - M - - - - - - - 1 Christiane Zweier
+?/. - c.1103G>A r.(?) p.(Arg368His) Unknown ACMG likely pathogenic (dominant) g.67654616G>A g.67620713G>A - - CTCF_000023 ACMG PM2, PP2, PM5, PM1, PS2_mod PubMed: Valverde de Morales 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat39 PubMed: Valverde de Morales 2023 patient F - - - - - - - 1 Johan den Dunnen
+?/. - c.1112G>C r.(?) p.(Arg371Pro) Unknown ACMG likely pathogenic (dominant) g.67654625G>C g.67620722G>C - - CTCF_000102 ACMG PM2, PP2, PM6_mod, PP3 PubMed: Valverde de Morales 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat27 PubMed: Valverde de Morales 2023 patient M - - - - - - - 1 Johan den Dunnen
?/. - c.1114T>C r.(?) p.(Ser372Pro) Maternal (confirmed) ACMG VUS g.67654627T>C g.67620724T>C - - CTCF_000103 ACMG PM2, PP2, PP3 PubMed: Valverde de Morales 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat18 PubMed: Valverde de Morales 2023 3-generation family, 3 affected (son, mother, maternal grandmother M - - - - - - - 3 Johan den Dunnen
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