Full data view for gene CREBBP

Information The variants shown are described using the NM_004380.2 transcript reference sequence.

440 entries on 5 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     
+/+ _1_2i c.(?_-204)_(798-1_799+1)del r.0? p.0? Unknown - pathogenic g.(3860779_3900299)_(393012_?)del - - - CREBBP_000116 deletion exon 1 to 2 - - - De novo - - - 0 - DNA SEQ - - RSTS-1 - M.J. van Belzen - - - - - - 0 - - 1 Martine van Belzen
+/+ _1_2i c.(?_-204)_(798-1_799+1)del r.0? p.0? Unknown - pathogenic g.(3860779_3900299)_(393012_?)del - - - CREBBP_000116 deletion exon 1 to 2 - - - De novo - - - 0 - DNA SEQ - - RSTS-1 - M.J. van Belzen - - - - - - 0 - - 1 Martine van Belzen
+/+ _1_31_ c.(?_-204)_(*2664_?)del r.0 p.0 Unknown - pathogenic g.(?_3777718)_(3929918_?)del - - - CREBBP_000117 deletion exon 1 to 31 (entire gene) - - - Germline/De novo (untested) - - - 0 - DNA SEQ - - RSTS-1 - M.J. van Belzen - - - - - - 0 - - 1 Martine van Belzen
-?/. - c.36C>G r.(?) p.(Pro12=) Unknown - likely benign g.3929882G>C g.3879881G>C CREBBP(NM_004380.2):c.36C>G (p.P12=) - CREBBP_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.37A>G r.(?) p.(Lys13Glu) Unknown - pathogenic g.3929881T>C g.3879880T>C - - CREBBP_000127 - - - - De novo - - - 0 - DNA SEQ - - RSTS-1 - M.J. van Belzen - - - - - - 0 - - 1 Martine van Belzen
+?/. - c.37A>G r.(?) p.(Lys13Glu) Unknown - likely pathogenic g.3929881T>C g.3879880T>C - - CREBBP_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 1 c.40A>G r.(?) p.(Arg14Gly) Unknown - pathogenic g.3929878T>C g.3879877T>C - - CREBBP_000071 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Bentivegna 2006 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.52A>T r.(?) p.(Ser18Cys) Unknown - VUS g.3929866T>A g.3879865T>A CREBBP(NM_004380.2):c.52A>T (p.S18C) - CREBBP_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 1 c.68C>A r.(?) p.(Ser23*) Unknown - pathogenic g.3929850G>T g.3879849G>T - - CREBBP_000025 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Coupry 2002 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 1i c.85+1G>T r.spl? p.(?) Unknown - pathogenic g.3929832C>A g.3879831C>A - - CREBBP_000135 - - - - De novo - - - 0 - DNA SEQ - - RSTS-1 - Gervasini, personal communication - - - - - - 0 - - 1 Martine van Belzen
+/+ 2 c.86_233del r.(?) p.(Asp29fs) Unknown - pathogenic g.3900865_3901012del g.3850864_3851011del - - CREBBP_000031 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Bartsch 2002 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 1i_2i c.(85+1_86-1)_(798+1_799-1)del r.(del) p.(del) Unknown - pathogenic g.(3860781_3900297)_(3901011_3929832)del - - - CREBBP_000118 deletion exon 2 - - - Unknown - - - 0 - DNA SEQ - - RSTS-1 - - - - - - - - 0 - - 1 Martine van Belzen
+/+ 1i_2i c.(85+1_86-1)_(798+1_799-1)del r.(del) p.(del) Unknown - pathogenic g.(3860781_3900297)_(3901011_3929832)del - - - CREBBP_000118 deletion exon 2 - - - Unknown - - - 0 - DNA SEQ - - RSTS-1 - M.J. van Belzen - - - - - - 0 - - 1 Martine van Belzen
?/. - c.105C>G r.(?) p.(Asp35Glu) Unknown - VUS g.3900991G>C g.3850990G>C CREBBP(NM_004380.2):c.105C>G (p.D35E) - CREBBP_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.139delinsTCATCATGAGCTG r.(?) p.(Asn47delinsSerSer*) Unknown - pathogenic g.3900957delinsCAGCTCATGATGA g.3850956delinsCAGCTCATGATGA - - CREBBP_000018 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Coupry 2002 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.140A>G r.(?) p.(Asn47Ser) Unknown - VUS g.3900956T>C g.3850955T>C CREBBP(NM_001079846.1):c.140A>G (p.(Asn47Ser)), CREBBP(NM_004380.2):c.140A>G (p.N47S) - CREBBP_000295 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.140A>G r.(?) p.(Asn47Ser) Unknown - likely benign g.3900956T>C g.3850955T>C CREBBP(NM_001079846.1):c.140A>G (p.(Asn47Ser)), CREBBP(NM_004380.2):c.140A>G (p.N47S) - CREBBP_000295 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.145G>C r.(?) p.(Gly49Arg) Unknown - VUS g.3900951C>G g.3850950C>G CREBBP(NM_004380.2):c.145G>C (p.G49R) - CREBBP_000319 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.180_181insTAAA r.(?) p.(Pro61Ter) Unknown - pathogenic g.3900915_3900916insTTTA g.3850914_3850915insTTTA CREBBP(NM_004380.3):c.180_181insTAAA (p.P61*) - CREBBP_000318 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.181_182insAAGGTTTAA r.(?) p.(Pro61delinsGlnGlyLeuThr) Unknown - pathogenic g.3900914_3900915insTTAAACCTT g.3850913_3850914insTTAAACCTT CREBBP(NM_004380.3):c.181_182insAAGGTTTAA (p.P61delinsQGLT) - CREBBP_000317 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.216G>T r.(?) p.(Glu72Asp) Unknown - likely benign g.3900880C>A - CREBBP(NM_001079846.1):c.216G>T (p.(Glu72Asp)) - CREBBP_000376 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.223C>T r.(?) p.(Arg75*) Unknown - pathogenic g.3900873G>A g.3850872G>A - - CREBBP_000136 - - - - De novo - - - 0 - DNA SEQ - - RSTS-1 - Gervasini, personal communication - - - - - - 0 - - 1 Martine van Belzen
?/. - c.224G>A r.(?) p.(Arg75Gln) Unknown - VUS g.3900872C>T - CREBBP(NM_004380.2):c.224G>A (p.R75Q) - CREBBP_000375 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.236del r.(?) p.(Gly79AlafsTer8) Unknown - pathogenic g.3900861del g.3850860del - - CREBBP_000047 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Roelfsema 2005 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 2 c.277dup r.(?) p.(Ser93LysfsTer19) Unknown - pathogenic g.3900819dup g.3850818dup - - CREBBP_000110 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - M.J. van Belzen - - - - - - 0 - - 1 Martine van Belzen
-/. - c.293G>T r.(?) p.(Gly98Val) Unknown - benign g.3900803C>A - CREBBP(NM_004380.3):c.293G>T (p.G98V) - CREBBP_000363 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.299del r.(?) p.(Gly100Valfs*24) Parent #1 - pathogenic g.3900799del g.3850798del - - CREBBP_000323 8 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783477 Germline - 8/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 8 Mohammed Faruq
+/+ 2 c.304C>T r.(?) p.(Gln102*) Unknown - pathogenic g.3900792G>A g.3850791G>A - - CREBBP_000052 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Roelfsema 2005 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 2 c.317dup r.(?) p.(Pro107AlafsTer5) Unknown - pathogenic g.3900779dup g.3850778dup - - CREBBP_000137 - - - - Unknown - - - 0 - DNA SEQ - - RSTS-1 - Gervasini, personal communication - - - - - - 0 - - 1 Martine van Belzen
-?/. - c.333C>T r.(?) p.(Asn111=) Unknown - likely benign g.3900763G>A - CREBBP(NM_004380.2):c.333C>T (p.N111=) - CREBBP_000362 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.383C>G r.(?) p.(Ser128Cys) Unknown - likely benign g.3900713G>C g.3850712G>C CREBBP(NM_004380.2):c.383C>G (p.S128C), CREBBP(NM_004380.3):c.383C>G (p.S128C) - CREBBP_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.383C>G r.(?) p.(Ser128Cys) Unknown - likely benign g.3900713G>C g.3850712G>C CREBBP(NM_004380.2):c.383C>G (p.S128C), CREBBP(NM_004380.3):c.383C>G (p.S128C) - CREBBP_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.386C>G r.(?) p.(Ser129Ter) Unknown - likely pathogenic g.3900710G>C g.3850709G>C - - CREBBP_000294 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.406C>T r.(?) p.(Gln136*) Unknown - pathogenic g.3900690G>A g.3850689G>A - - CREBBP_000001 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Petrij 1995; OMIM:var0001 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.435C>T r.(?) p.(Pro145=) Unknown - likely benign g.3900661G>A g.3850660G>A CREBBP(NM_004380.3):c.435C>T (p.P145=) - CREBBP_000293 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.472C>T r.(?) p.(Gln158*) Unknown - pathogenic g.3900624G>A g.3850623G>A - - CREBBP_000138 - - - - De novo - - - 0 - DNA SEQ - - RSTS-1 - Gervasini, personal communication - - - - - - 0 - - 1 Martine van Belzen
+/+ 2 c.474_493del r.(?) p.(Val159fs) Unknown - pathogenic g.3900607_3900626del g.3850606_3850625del - - CREBBP_000067 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Bartsch 2005 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.569A>G r.(?) p.(Asn190Ser) Unknown - VUS g.3900527T>C g.3850526T>C CREBBP(NM_004380.2):c.569A>G (p.N190S) - CREBBP_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.586A>G r.(?) p.(Ser196Gly) Unknown - likely benign g.3900510T>C g.3850509T>C CREBBP(NM_004380.2):c.586A>G (p.S196G) - CREBBP_000292 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.659G>C r.(?) p.(Arg220Thr) Unknown - VUS g.3900437C>G g.3850436C>G CREBBP(NM_004380.3):c.659G>C (p.R220T) - CREBBP_000316 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.708dup r.(?) p.(Ser237GlnfsTer5) Unknown - pathogenic g.3900388dup g.3850387dup - - CREBBP_000315 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.712G>C r.(?) p.(Val238Leu) Unknown - VUS g.3900384C>G - CREBBP(NM_004380.3):c.712G>C (p.V238L) - CREBBP_000291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.760G>A r.(?) p.(Ala254Thr) Unknown - likely benign g.3900336C>T - CREBBP(NM_004380.2):c.760G>A (p.A254T) - CREBBP_000374 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2i c.798+10005T>C r.(?) p.(=) Unknown - likely benign g.3890293A>G g.3840292A>G - - CREBBP_000171 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/+ 3 c.810_811del r.(?) p.(Gly271GlufsTer10) Unknown - pathogenic g.3860768_3860769del g.3810767_3810768del - - CREBBP_000139 - - - - De novo - - - 0 - DNA SEQ - - RSTS-1 - Gervasini, personal communication - - - - - - 0 - - 1 Martine van Belzen
+/+ 3 c.840dup r.(?) p.(Ser281*) Unknown - pathogenic g.3860741dup g.3810740dup - - CREBBP_000026 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Coupry 2002 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.865G>A r.(?) p.(Gly289Arg) Unknown - VUS g.3860714C>T g.3810713C>T CREBBP(NM_004380.2):c.865G>A (p.G289R) - CREBBP_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.879G>A r.(?) p.(Val293=) Unknown - likely benign g.3860700C>T g.3810699C>T CREBBP(NM_004380.2):c.879G>A (p.V293=) - CREBBP_000290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.880dup r.(?) p.(Asn294Lysfs*56) Unknown - likely pathogenic (dominant) g.3860699dup g.3810698dup NM_004380.2:c.881dup:p.(Asn294Lysfs*56) - CREBBP_000361 - PubMed: Maddirevula 2018 - - De novo - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 14DG0467 PubMed: Maddirevula 2018 isolated case M no - Arab - 0 - - 1 LOVD
+/. - c.881dup r.(?) p.(Asn294Lysfs*56) Unknown ACMG pathogenic (dominant) g.3860698dup g.3810697dup - - CREBBP_000342 ACMG PVS1,PS2 PubMed: Anazi 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - sanger ID 14DG0467 PubMed: Anazi 2017 simplex case M - - - - 0 - - 1 Johan den Dunnen
+/+ 3 c.904_905del r.(?) p.(Ser302HisfsTer47) Unknown - pathogenic g.3860676_3860677del g.3810675_3810676del - - CREBBP_000057 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Roelfsema 2005 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.905G>A r.(?) p.(Ser302Asn) Unknown - likely benign g.3860674C>T g.3810673C>T CREBBP(NM_001079846.1):c.905G>A (p.(Ser302Asn)), CREBBP(NM_004380.2):c.905G>A (p.S302N) - CREBBP_000329 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.905G>A r.(?) p.(Ser302Asn) Unknown - likely benign g.3860674C>T - CREBBP(NM_001079846.1):c.905G>A (p.(Ser302Asn)), CREBBP(NM_004380.2):c.905G>A (p.S302N) - CREBBP_000329 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.1011dup r.(?) p.(Gln338ThrfsTer12) Unknown - pathogenic g.3843592dup g.3793591dup - - CREBBP_000129 - - - - Unknown - - - 0 - DNA SEQ - - RSTS-1 - D.J.M. Peters, personal communication - - - - - - 0 - - 1 Martine van Belzen
+/+ 4 c.1066C>T r.(?) p.(Gln356*) Unknown - pathogenic g.3843537G>A g.3793536G>A - - CREBBP_000002 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Petrij 1995; OMIM:var0002 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 4 c.1069C>T r.(?) p.(Gln357*) Unknown - pathogenic g.3843534G>A g.3793533G>A - - CREBBP_000092 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - M.J. van Belzen - - - - - - 0 - - 1 Martine van Belzen
+/+ 4 c.1108C>T r.(?) p.(Arg370*) Unknown - pathogenic g.3843495G>A g.3793494G>A - - CREBBP_000023 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Coupry 2002 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 4 c.1108C>T r.(?) p.(Arg370*) Unknown - pathogenic g.3843495G>A g.3793494G>A - - CREBBP_000023 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Bartsch 2002 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 4 c.1108C>T r.(?) p.(Arg370*) Unknown - pathogenic g.3843495G>A g.3793494G>A - - CREBBP_000023 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Udaka 2005 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 4 c.1108C>T r.(?) p.(Arg370*) Unknown - pathogenic g.3843495G>A g.3793494G>A - - CREBBP_000023 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Bentivegna 2006 - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.1108C>T r.(?) p.(Arg370* ) Unknown ACMG pathogenic g.3843495G>A g.3793494G>A - - CREBBP_000023 - PubMed: Squeo 2020 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - 68-gene panel ? GDB1186 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - 0 - - 1 Johan den Dunnen
+/+ 4 c.1114C>T r.(?) p.(Gln372*) Unknown - pathogenic g.3843489G>A g.3793488G>A - - CREBBP_000128 - - - - Unknown - - - 0 - DNA SEQ - - RSTS-1 - D.J.M. Peters, personal communication - - - - - - 0 - - 1 Martine van Belzen
-?/. - c.1149G>A r.(?) p.(Pro383=) Unknown - likely benign g.3843454C>T g.3793453C>T CREBBP(NM_004380.2):c.1149G>A (p.P383=) - CREBBP_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1181A>C r.(?) p.(His394Pro) Unknown - likely pathogenic g.3843422T>G - CREBBP(NM_004380.2):c.1181A>C (p.H394P) - CREBBP_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4i c.1216+1G>A r.spl? p.(?) Unknown - pathogenic g.3843386C>T g.3793385C>T - - CREBBP_000029 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Bartsch 2002 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 5 c.1237C>T r.(?) p.(Arg413*) Unknown - pathogenic g.3842075G>A g.3792074G>A - - CREBBP_000024 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Coupry 2002 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 5 c.1237C>T r.(?) p.(Arg413*) Unknown - pathogenic g.3842075G>A g.3792074G>A - - CREBBP_000024 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Roelfsema 2005 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 5 c.1237C>T r.(?) p.(Arg413*) Unknown - pathogenic g.3842075G>A g.3792074G>A - - CREBBP_000024 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - M.J. van Belzen - - - - - - 0 - - 1 Martine van Belzen
+/. - c.1257G>A r.(?) p.(Trp419*) Parent #1 - pathogenic g.3842055C>T g.3792054C>T - - CREBBP_000322 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783463 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/+ 5 c.1270C>T r.(?) p.(Arg424*) Unknown - pathogenic g.3842042G>A g.3792041G>A - - CREBBP_000072 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Bartsch 2005 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 5 c.1270C>T r.(?) p.(Arg424*) Unknown - pathogenic g.3842042G>A g.3792041G>A - - CREBBP_000072 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Udaka 2005 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 5 c.1270C>T r.(?) p.(Arg424*) Unknown - pathogenic g.3842042G>A g.3792041G>A - - CREBBP_000072 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Bentivegna 2006 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 5 c.1270C>T r.(?) p.(Arg424*) Unknown - pathogenic g.3842042G>A g.3792041G>A - - CREBBP_000072 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - M.J. van Belzen - - - - - - 0 - - 1 Martine van Belzen
+/+ 5 c.1318C>T r.(?) p.(Arg440*) Unknown - pathogenic g.3841994G>A g.3791993G>A - - CREBBP_000093 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - M.J. van Belzen de novo variant - - - - - 0 - - 1 Martine van Belzen
+/+ 6 c.1388_1395del r.(?) p.(Gly463GlufsTer7) Unknown - pathogenic g.3832867_3832874del g.3782866_3782873del - - CREBBP_000046 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Roelfsema 2005 de novo variant - - - - - 0 - - 1 Martine van Belzen
+/+ 6 c.1412_1415del r.(?) p.(Ser471ThrfsTer5) Unknown - pathogenic g.3832846_3832849del g.3782845_3782848del - - CREBBP_000131 - - - - Unknown - - - 0 - DNA SEQ - - RSTS-1 - D.J.M. Peters, personal communication - - - - - - 0 - - 1 Martine van Belzen
+/+ 6 c.1481dup r.(?) p.(Asn494LysfsTer34) Unknown - pathogenic g.3832778dup g.3782777dup - - CREBBP_000050 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Roelfsema 2005 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 6 c.1483C>T r.(?) p.(Gln495*) Unknown - pathogenic g.3832775G>A g.3782774G>A - - CREBBP_000140 - - - - De novo - - - 0 - DNA SEQ - - RSTS-1 - Gervasini, personal communication - - - - - - 0 - - 1 Martine van Belzen
+/+ 6 c.1515_1521del r.(?) p.(Gly506AsnfsTer11) Unknown - pathogenic g.3832737_3832743del g.3782736_3782742del - - CREBBP_000141 - - - - De novo - - - 0 - DNA SEQ - - RSTS-1 - Gervasini, personal communication - - - - - - 0 - - 1 Martine van Belzen
+/+ 6 c.1522C>T r.(?) p.(Gln508*) Unknown - pathogenic g.3832736G>A g.3782735G>A - - CREBBP_000133 - - - - De novo - - - 0 - DNA SEQ - - RSTS-1 - M.J. van Belzen - - - - - - 0 - - 1 Martine van Belzen
?/. - c.1571T>A r.(?) p.(Leu524Gln) Unknown - VUS g.3832687A>T g.3782686A>T - - CREBBP_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1640C>T r.(?) p.(Ser547Leu) Unknown - VUS g.3831241G>A - CREBBP(NM_004380.2):c.1640C>T (p.S547L) - CREBBP_000360 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1651C>A r.(?) p.(Leu551Ile) Unknown - benign g.3831230G>T g.3781229G>T CREBBP(NM_001079846.1):c.1537C>A (p.(Leu513Ile)), CREBBP(NM_004380.2):c.1651C>A (p.L551I) - CREBBP_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1651C>A r.(?) p.(Leu551Ile) Unknown - likely benign g.3831230G>T g.3781229G>T CREBBP(NM_001079846.1):c.1537C>A (p.(Leu513Ile)), CREBBP(NM_004380.2):c.1651C>A (p.L551I) - CREBBP_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.1655del r.(?) p.(Pro552ArgfsTer10) Unknown - pathogenic g.3831227del g.3781226del - - CREBBP_000094 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - M.J. van Belzen - - - - - - 0 - - 1 Martine van Belzen
+/+ 7i c.1676+1G>A r.spl? p.(?) Unknown - pathogenic g.3831204C>T g.3781203C>T - - CREBBP_000030 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Bartsch 2002 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 8 c.1733del r.(?) p.(Pro578GlnfsTer11) Unknown - pathogenic g.3830824del g.3780823del - - CREBBP_000081 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Udaka 2005 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 8 c.1735dup r.(?) p.(Thr579AsnfsTer7) Unknown - pathogenic g.3830822dup g.3780821dup - - CREBBP_000044 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Roelfsema 2005 de novo variant - - - - - 0 - - 1 Martine van Belzen
+?/. - c.1799T>C r.(?) p.(Leu600Pro) Unknown - likely pathogenic g.3830757A>G g.3780756A>G - - CREBBP_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1802G>A r.(?) p.(Arg601Gln) Unknown - pathogenic g.3830754C>T g.3780753C>T - - CREBBP_000167 - - - - De novo - - - 0 - DNA SEQ - - RSTS-1 - - - F no - Caucasian - 0 - - 1 Gwenael Le Guyader
-?/. - c.1824C>T r.(?) p.(Leu608=) Unknown - likely benign g.3828818G>A - CREBBP(NM_004380.2):c.1824C>T (p.L608=) - CREBBP_000359 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 9 c.1891_1895del r.(?) p.(Ala631CysfsTer2) Unknown - pathogenic g.3828749_3828753del g.3778748_3778752del - - CREBBP_000062 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Bartsch 2005 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.1953T>C r.(?) p.(Tyr651=) Unknown - likely benign g.3828172A>G g.3778171A>G CREBBP(NM_001079846.1):c.1839T>C (p.(=)) - CREBBP_000287 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1953T>C r.(=) p.(=) Parent #1 - benign g.3828172A>G g.3778171A>G - - CREBBP_000287 20 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs130003 Germline - 20/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 20 Mohammed Faruq
+/+ 10 c.1984C>T r.(?) p.(Gln662*) Unknown - pathogenic g.3828141G>A g.3778140G>A - - CREBBP_000083 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Bentivegna 2006 - - - - - - 0 - - 1 Johan den Dunnen
+/+ 10 c.2045dup r.(?) p.(Pro683AlafsTer43) Unknown - pathogenic g.3828080dup g.3778079dup - - CREBBP_000019 - - - - Germline - - - 0 - DNA SEQ - - RSTS-1 - PubMed: Coupry 2002 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.2052C>T r.(?) p.(Ala684=) Unknown - likely benign g.3828073G>A g.3778072G>A CREBBP(NM_004380.2):c.2052C>T (p.A684=) - CREBBP_000286 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2088A>G r.(?) p.(Pro696=) Unknown - likely benign g.3828037T>C - CREBBP(NM_004380.2):c.2088A>G (p.P696=) - CREBBP_000339 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2141G>A r.(?) p.(Arg714His) Unknown - VUS g.3827631C>T - CREBBP(NM_004380.3):c.2141G>A (p.R714H) - CREBBP_000358 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2149G>A r.(?) p.(Val717Ile) Unknown - VUS g.3827623C>T g.3777622C>T CREBBP(NM_004380.2):c.2149G>A (p.(Val717Ile)) - CREBBP_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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