Unique variants in the CRTAP gene


Osteogenesis Imperfecta Variant Database
Information The variants shown are described using the NM_006371.4 transcript reference sequence.

54 entries on 1 page. Showing entries 1 - 54.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 1 _1_1i c.-1677_471+1592del r.0? p.0? - pathogenic g.33153893_33157632del - - - CRTAP_000028 1 more item PubMed: Caparrós-Martin 2013 - - Germline - - - - - Victor L Ruiz-Perez
+/+ 1 1 c.3G>A r.(?) p.(Met1?) - pathogenic g.33155572G>A - - - CRTAP_000007 - PubMed: Barnes 2006 - - Germline - - NlaIV- - - Raymond Dalgleish
+/+, +/. 3 1 c.21_22dup r.(?) p.(Ala8Glyfs*6), p.(Ala8GlyfsTer6) - pathogenic g.33155590_33155591dup g.33114098_33114099dup CRTAP(NM_006371.5):c.21_22dupGG (p.A8Gfs*6) - CRTAP_000011 VKGL data sharing initiative Nederland PubMed: van Dijk 2009 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc, Gerard Pals
+/+ 1 1 c.22dup r.(?) p.(Ala8Glyfs*153) - pathogenic g.33155591dup - c.22dupG - CRTAP_000025 - - - - Germline - - - - - Giacomo Venturi, Massimiliano Corradi, Alberto Gandini
+/+ 1 1 c.24_31del r.(?) p.(Ala10Serfs*148) - pathogenic g.33155593_33155600del - - - CRTAP_000001 - PubMed: Baldridge 2008 - - Germline - - - - - Peter Byers
?/? 1 1 c.38C>A r.(?) p.(Ala13Glu) - VUS g.33155607C>A - - - CRTAP_000019 1 more item PubMed: van Dijk 2009 - - Germline - - - - - Gerard Pals
+/. 1 - c.62_77del r.(?) p.(Leu21Profs*16) ACMG likely pathogenic (recessive) g.33155631_33155646del g.33114139_33114154del - - CRTAP_000054 ACMG PVS1, PM2 PubMed: Kuptanon 2022, Journal: Kuptanon 2022 ClinVar-SCV001961003 - Germline - - - - - Thanakorn Theerapanon
?/. 1 - c.101_109dup r.(?) p.(Arg34_Phe36dup) - VUS g.33155670_33155678dup - CRTAP(NM_006371.4):c.101_109dup (p.(Arg34_Phe36dup)) - CRTAP_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 1 c.118G>T r.(?) p.(Glu40*) - pathogenic g.33155687G>T g.33114195G>T - - CRTAP_000039 - PubMed: Balasubramanian 2015 - - Germline - - - - - Johan den Dunnen
+/+ 1 1 c.118_133delinsTACCC r.(?) p.(Glu40Tyrfs*117) - pathogenic g.33155687_33155702delinsTACCC - - - CRTAP_000026 - PubMed: Valli 2012 - - Germline - - - - - Raymond Dalgleish
+/+ 1 1 c.133G>T r.(?) p.(Glu45*) - pathogenic g.33155702G>T - - - CRTAP_000030 - PubMed: Stephen 2015 - - Germline - - - - - Raymond Dalgleish
+?/. 1 - c.160_167del r.(?) p.(Lys54Argfs*104) ACMG likely pathogenic g.33155729_33155736del g.33114237_33114244del - - CRTAP_000040 - PubMed: Trujillano 2017 - - Germline - - - - - Daniel Trujillano
+/+ 1 1 c.198C>A r.(?) p.(Tyr66*) - pathogenic g.33155767C>A - - - CRTAP_000014 - PubMed: van Dijk 2009 - - Germline - - - - - Gerard Pals
+/+, +?/. 2 1 c.200T>C r.(?) p.(Leu67Pro) - likely pathogenic, pathogenic g.33155769T>C g.33114277T>C CRTAP(NM_006371.5):c.200T>C (p.L67P) - CRTAP_000004 VKGL data sharing initiative Nederland PubMed: Baldridge 2008 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_VUmc, Peter Byers
+/+ 1 1 c.202G>T r.(?) p.(Glu68*) - pathogenic g.33155771G>T - - - CRTAP_000036 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - Xiuli Zhao
-/. 2 - c.213G>A r.(?) p.(Leu71=) - benign g.33155782G>A g.33114290G>A CRTAP(NM_006371.5):c.213G>A (p.L71=) - CRTAP_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
+/+ 2 1 c.278_293dup r.(?) p.(Gly99Alafs*67) - pathogenic g.33155847_33155862dup - - - CRTAP_000002 - PubMed: Baldridge 2008, PubMed: Barnes 2006 - - Germline - - HpaII- - - Raymond Dalgleish, Peter Byers
+/+ 1 1 c.404del r.(?) p.Ser135Thrfs*39 - pathogenic g.33155973del - c.404delG - CRTAP_000012 - PubMed: van Dijk 2009 - - Germline - - - - - Gerard Pals
+/+ 1 1 c.452T>C r.(?) p.(Leu151Pro) - pathogenic g.33156021T>C - - - CRTAP_000034 - PubMed: Caparros-Martin 2016 - - Germline - - - - - Raymond Dalgleish
?/? 1 1 c.469A>G r.(?) p.(Lys157Glu) - VUS g.33156038A>G - - - CRTAP_000017 1 more item PubMed: van Dijk 2009 - - Germline - - - - - Gerard Pals
+/. 1 - c.470A>G r.(?) p.(Lys157Arg) ACMG likely pathogenic (recessive) g.33156039A>G - - - CRTAP_000055 ACMG PM2 ,PM3, PM5, PP3 PubMed: Kuptanon 2022, Journal: Kuptanon 2022 ClinVar-SCV001976358 - Germline - - - - - Thanakorn Theerapanon
+/+ 1 1i c.471+1G>C r.spl p.? - pathogenic g.33156041G>C - - - CRTAP_000005 - PubMed: Barnes 2006 - - Germline - - MwoI+ - - Raymond Dalgleish
+/+, +/. 5 1i c.471+2C>A r.spl, r.spl? p.? - pathogenic g.33156042C>A - CRTAP(NM_006371.4):c.471+2C>A (p.?) - CRTAP_000010 VKGL data sharing initiative Nederland PubMed: Bodian 2009, PubMed: van Dijk 2009 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, Peter Byers, Gerard Pals, Margherita Maioli
+/+ 1 1i c.471+4del r.spl p.? - pathogenic g.33156044del g.33114552del - - CRTAP_000037 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - Xiuli Zhao
-?/. 1 - c.471+7C>T r.(=) p.(=) - likely benign g.33156047C>T - CRTAP(NM_006371.4):c.471+7C>T (p.(=)) - CRTAP_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 1i c.472-1021C>G r.spl p.? - pathogenic g.33160815C>G - - - CRTAP_000009 - PubMed: Morello 2006 - - Germline - - - - - Peter Roughley
-/-, -/. 3 2 c.534C>T r.(?) p.(Asp174=), p.(Asp178=) - benign g.33161898C>T g.33120406C>T CRTAP(NM_006371.5):c.534C>T (p.D178=) - CRTAP_000021 VKGL data sharing initiative Nederland, 1 more item PubMed: Barbirato 2015 - rs4076086 CLASSIFICATION record, Germline - - - - - Raymond Dalgleish, VKGL-NL_Groningen, VKGL-NL_VUmc
+/. 1 - c.535G>T r.(?) p.(Glu179Ter) - pathogenic g.33161899G>T g.33120407G>T CRTAP(NM_006371.5):c.535G>T (p.E179*) - CRTAP_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/-, -/. 2 2 c.558A>G r.(?) p.(Ala186=) - benign, likely pathogenic g.33161922A>G g.33120430A>G CRTAP(NM_006371.5):c.558A>G (p.A186=) - CRTAP_000022 VKGL data sharing initiative Nederland, 1 more item PubMed: Barbirato 2015 - rs35357409 CLASSIFICATION record, Germline - - - - - Raymond Dalgleish, VKGL-NL_VUmc
+/+, +/. 2 2 c.561T>G r.(?) p.(Tyr187*) - pathogenic, pathogenic (recessive) g.33161925T>G g.33120433T>G NM_006371.4:c.561T>G:p.(Tyr187*) - CRTAP_000027 - PubMed: Maddirevula 2018, PubMed: Shaheen 2012 - - Germline - - - - - Raymond Dalgleish
-?/. 1 - c.582C>T r.(?) p.(Ala194=) - likely benign g.33161946C>T - CRTAP(NM_006371.4):c.582C>T (p.A194=) - CRTAP_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.622-16T>C r.(=) p.(=) - likely benign g.33165884T>C g.33124392T>C CRTAP(NM_006371.5):c.622-16T>C - CRTAP_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 1 3 c.634C>T r.(?) p.(Arg212*) - pathogenic g.33165912C>T - - - CRTAP_000020 - PubMed: Chang 2010 - - Germline - - DdeI+ - - Raymond Dalgleish
-/., -?/. 2 - c.641T>C r.(?) p.(Val214Ala) - benign, likely benign g.33165919T>C g.33124427T>C CRTAP(NM_006371.4):c.641T>C (p.(Val214Ala)), CRTAP(NM_006371.5):c.641T>C (p.V214A) - CRTAP_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
?/. 1 - c.724G>A r.(?) p.(Glu242Lys) - VUS g.33166002G>A - CRTAP(NM_006371.4):c.724G>A (p.E242K) - CRTAP_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.731_732del r.(?) p.(Leu244ArgfsTer34) - pathogenic g.33166009_33166010del - CRTAP(NM_006371.4):c.731_732delTC (p.L244Rfs*34) - CRTAP_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.732C>T r.(?) p.(Leu244=) - likely benign g.33166010C>T g.33124518C>T CRTAP(NM_006371.5):c.732C>T (p.L244=) - CRTAP_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.794-1403A>G r.[793_794ins794-1472_794-1404,(793_794ins[793+1_793+7;794-1472_794-1404]] p.? - pathogenic (recessive) g.33170028A>G g.33128536A>G - - CRTAP_000058 - PubMed: Udupa 2023 - - Germline - - - - - Kim Worring
+/+ 1 4 c.804_809del r.(?) p.Glu269_Val270del - pathogenic g.33171441_33171446del - - - CRTAP_000018 - PubMed: Ben Amor 2011 - - Germline - - - - - Peter Roughley
+/+ 1 4 c.822_826delinsT r.(?) p.(Lys274Asnfs*11) - pathogenic g.33171459_33171463delinsT - - - CRTAP_000003 - PubMed: Baldridge 2008 - - Germline - - - - - Peter Byers
+/+, +/. 3 4 c.826C>T r.(?) p.(Gln276*) - pathogenic, pathogenic (recessive) g.33171463C>T g.33129971C>T NM_006371.4:c.826C>T:p.(Gln276*) - CRTAP_000006 - PubMed: Barnes 2006, PubMed: Chang 2010, PubMed: Maddirevula 2018 - - Germline - - HpyCH4III- - - Raymond Dalgleish
+/+ 1 4 c.879del r.(?) p.Phe293Leufs*16 - pathogenic g.33171516del - c.879delT - CRTAP_000008 - PubMed: Morello 2006 - - Germline - - - - - Peter Byers
-/. 1 - c.888C>T r.(?) p.(Thr296=) - benign g.33171525C>T - CRTAP(NM_006371.5):c.888C>T (p.T296=) - CRTAP_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 1 4i c.923-2A>G r.spl p.? - pathogenic g.33174045A>G - - - CRTAP_000016 1 more item PubMed: van Dijk 2009 - - Germline - - - - - Gerard Pals
+/? 2 5 c.976C>T r.(?) p.(Gln326*) - pathogenic g.33174100C>T - - - CRTAP_000032 - PubMed: Essawi 2018, Journal: Essawi 2018 - - Germline - - - - - Sofie Symoens
+?/. 1 - c.986del r.(?) p.(Lys329Argfs*36) - likely pathogenic g.33174110del g.33132618del - - CRTAP_000048 - PubMed: Demir 2021 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. 1 - c.994C>G r.(?) p.(Gln332Glu) - likely benign g.33174118C>G - CRTAP(NM_006371.4):c.994C>G (p.(Gln332Glu)) - CRTAP_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., ?/- 3 5 c.1032T>G r.(?) p.(=), p.(Thr344=) - benign, VUS g.33174156T>G g.33132664T>G CRTAP(NM_006371.5):c.1032T>G (p.T344=) - CRTAP_000023 VKGL data sharing initiative Nederland - - rs1135127 CLASSIFICATION record, Germline - - - - - Raymond Dalgleish, VKGL-NL_Groningen, VKGL-NL_VUmc
?/. 1 - c.1039C>T r.(?) p.(Leu347Phe) - VUS g.33174163C>T - CRTAP(NM_006371.4):c.1039C>T (p.(Leu347Phe)) - CRTAP_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., ?/- 3 5 c.1044G>A r.(?) p.(=), p.(Ser348=) - benign, VUS g.33174168G>A g.33132676G>A CRTAP(NM_006371.5):c.1044G>A (p.S348=) - CRTAP_000024 VKGL data sharing initiative Nederland - - rs1135128 CLASSIFICATION record, Germline - - - - - Raymond Dalgleish, VKGL-NL_Groningen, VKGL-NL_VUmc
+/+ 1 5 c.1046A>G r.(?) p.(Asp349_Pro356del) - pathogenic g.33174170A>G - - - CRTAP_000033 1 more item PubMed: Caparros-Martin 2016 - - Germline - - - - - Raymond Dalgleish
+/+ 1 6 c.1112dup r.(?) p.(Tyr372Valfs*2) - pathogenic g.33175717dup - - - CRTAP_000035 - PubMed: Caparros-Martin 2016 - - Germline - - - - - Raymond Dalgleish
-/- 1 6i c.1152+36C>A r.(?) p.(=) - benign g.33175793C>A - - - CRTAP_000031 1 more item PubMed: Barbirato 2015 - - Germline - - - - - Raymond Dalgleish
-?/. 1 - c.1153-8T>C r.(=) p.(=) - likely benign g.33183879T>C g.33142387T>C CRTAP(NM_006371.5):c.1153-8T>C - CRTAP_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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