Full data view for gene CRTAP


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

86 entries on 1 page. Showing entries 1 - 86.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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Age at death     

VIP     

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Owner     
+/+ _1_1i c.-1677_471+1592del r.0? p.0? Both (homozygous) - pathogenic g.33153893_33157632del - - - CRTAP_000028 variant description for which the patient is homozygous is formally invalid as the 5´ break point lies outside of the reference sequence. PubMed: Caparrós-Martin 2013 - - Germline - - - - - DNA SEQ - - OI Family 3 PubMed: Caparrós-Martin 2013 - - - Egypt - - - - - 1 Victor L Ruiz-Perez
+/+ 1 c.3G>A r.(?) p.(Met1?) Paternal (confirmed) - pathogenic g.33155572G>A - - - CRTAP_000007 - PubMed: Barnes 2006 - - Germline - - NlaIV- - - DNA PCR, SEQ - - OI Infant 3 PubMed: Barnes 2006 This patient has been reported subsequently as Proband 1 by PubMed: Chang et al., 2010. However, the mutation descriptions in that publication do not conform to HGVS guidelines. - - Germany - - - - - 1 Raymond Dalgleish
+/. 1 c.21_22dup r.(?) p.(Ala8GlyfsTer6) Unknown - pathogenic g.33155590_33155591dup g.33114098_33114099dup CRTAP(NM_006371.5):c.21_22dupGG (p.A8Gfs*6) - CRTAP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.21_22dup r.(?) p.(Ala8GlyfsTer6) Unknown - pathogenic g.33155590_33155591dup g.33114098_33114099dup CRTAP(NM_006371.5):c.21_22dupGG (p.A8Gfs*6) - CRTAP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.21_22dup r.(?) p.(Ala8Glyfs*6) Both (homozygous) - pathogenic g.33155590_33155591dup - - - CRTAP_000011 - PubMed: van Dijk 2009 - - Germline - - - - - DNA SEQ - - OI - PubMed: van Dijk 2009 This patient belongs to family 1 and is VI:5 in the pedigree. The variant detected in this patient has been shown by {PMID25641760:Mathijssen et al., 2015} to be a common cause of OI types IIB and III in a genetically isolated Dutch community. - - - white - - - - 1 Gerard Pals
+/+ 1 c.22dup r.(?) p.(Ala8Glyfs*153) Both (homozygous) - pathogenic g.33155591dup - c.22dupG - CRTAP_000025 - - - - Germline - - - - - DNA SEQ - - OI - - - - - Pakistan - - - - - 1 Giacomo Venturi, Massimiliano Corradi, Alberto Gandini
+/+ 1 c.24_31del r.(?) p.(Ala10Serfs*148) Both (homozygous) - pathogenic g.33155593_33155600del - - - CRTAP_000001 - PubMed: Baldridge 2008 - - Germline - - - - - DNA PCR, SEQ - - OI Proband 1 PubMed: Baldridge 2008 This patient is referred to as Family 43 in {PMID21239989:Pyott et al., 2011}. - - Lebanon - - - - - 1 Peter Byers
?/? 1 c.38C>A r.(?) p.(Ala13Glu) Maternal (confirmed) - VUS g.33155607C>A - - - CRTAP_000019 The patient is from family 4.; The c.38C>A and c.469A>G variants reside on the same maternally inherited allele. This combination of alelleic variants is described as c.[38C>A;469A>G]. The relative contributions of these variants to the phenotype is not entirely understood. PubMed: van Dijk 2009 - - Germline - - - - - DNA SEQ - - OI - PubMed: van Dijk 2009 - - - - white - - - - 1 Gerard Pals
+/. - c.62_77del r.(?) p.(Leu21Profs*16) Parent #1 ACMG likely pathogenic (recessive) g.33155631_33155646del g.33114139_33114154del - - CRTAP_000054 ACMG PVS1, PM2 PubMed: Kuptanon 2022, Journal: Kuptanon 2022 ClinVar-SCV001961003 - Germline - - - - - DNA SEQ-NG-I - - OI7 Pat2 PubMed: Kuptanon 2022, Journal: Kuptanon 2022 - F yes Thailand - - - - - 1 Thanakorn Theerapanon
?/. - c.88C>A r.(?) p.(Arg30Ser) Unknown - VUS g.33155657C>A - CRTAP(NM_006371.4):c.88C>A (p.(Arg30Ser)) - CRTAP_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.101_109dup r.(?) p.(Arg34_Phe36dup) Unknown - VUS g.33155670_33155678dup - CRTAP(NM_006371.4):c.101_109dup (p.(Arg34_Phe36dup)) - CRTAP_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.118G>T r.(?) p.(Glu40*) Both (homozygous) - pathogenic g.33155687G>T g.33114195G>T - - CRTAP_000039 - PubMed: Balasubramanian 2015 - - Germline - - - - - DNA SEQ - gene panel CLCRP 25604815- PubMed: Balasubramanian 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents (first cousin) F - United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+/+ 1 c.118_133delinsTACCC r.(?) p.(Glu40Tyrfs*117) Both (homozygous) - pathogenic g.33155687_33155702delinsTACCC - - - CRTAP_000026 - PubMed: Valli 2012 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Valli 2012 - - - Egypt - - - - - 1 Raymond Dalgleish
+/+ 1 c.133G>T r.(?) p.(Glu45*) Both (homozygous) - pathogenic g.33155702G>T - - - CRTAP_000030 - PubMed: Stephen 2015 - - Germline - - - - - DNA PCR, SEQ - - OI Family 3 PubMed: Stephen 2015 The patient has an affected twin sister & elder sister and the parents are consanguineous and confirmed to be heterozygous for the variant. - - India - - - - - 1 Raymond Dalgleish
+?/. - c.160_167del r.(?) p.(Lys54Argfs*104) Both (homozygous) ACMG likely pathogenic g.33155729_33155736del g.33114237_33114244del - - CRTAP_000040 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - OI7 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/+ 1 c.198C>A r.(?) p.(Tyr66*) Unknown - pathogenic g.33155767C>A - - - CRTAP_000014 - PubMed: van Dijk 2009 - - Germline - - - - - DNA SEQ - - OI - PubMed: van Dijk 2009 The patient is individual II:1 in family 3. - - - white - - - - 1 Gerard Pals
+?/. - c.198C>A r.(?) p.(Tyr66*) Unknown - likely pathogenic g.33155767C>A - CRTAP(NM_006371.5):c.198C>A (p.(Tyr66*)) - CRTAP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.200T>C r.(?) p.(Leu67Pro) Unknown - likely pathogenic g.33155769T>C g.33114277T>C CRTAP(NM_006371.5):c.200T>C (p.L67P) - CRTAP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.200T>C r.(?) p.(Leu67Pro) Both (homozygous) - pathogenic g.33155769T>C - - - CRTAP_000004 - PubMed: Baldridge 2008 - - Germline - - - - - DNA PCR, SEQ - - OI Proband 3 PubMed: Baldridge 2008 - - - Iran - - - - - 1 Peter Byers
+/+ 1 c.202G>T r.(?) p.(Glu68*) Paternal (confirmed) - pathogenic g.33155771G>T - - - CRTAP_000036 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG - WES OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
-/. - c.213G>A r.(?) p.(Leu71=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.213G>A r.(?) p.(Leu71=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.278_293dup r.(?) p.(Gly99Alafs*67) Unknown - pathogenic g.33155847_33155862dup - - - CRTAP_000002 - PubMed: Baldridge 2008 - - Germline - - HpaII- - - DNA PCR, SEQ - - OI Proband 2 PubMed: Baldridge 2008 - - - - white - - - - 1 Peter Byers
+/+ 1 c.278_293dup r.(?) p.(Gly99Alafs*67) Maternal (confirmed) - pathogenic g.33155847_33155862dup - - - CRTAP_000002 - PubMed: Barnes 2006 - - Germline - - HpaII- - - DNA PCR, SEQ - - OI Infant 3 PubMed: Barnes 2006 This patient has been reported subsequently as Proband 1 by PubMed: Chang et al., 2010. However, the mutation descriptions in that publication do not conform to HGVS guidelines. - - Germany - - - - - 1 Raymond Dalgleish
+/+ 1 c.404del r.(?) p.Ser135Thrfs*39 Both (homozygous) - pathogenic g.33155973del - c.404delG - CRTAP_000012 - PubMed: van Dijk 2009 - - Germline - - - - - DNA SEQ - - OI - PubMed: van Dijk 2009 The patient is from family 2. - - Morocco - - - - - 1 Gerard Pals
?/. - c.451C>G r.(?) p.(Leu151Val) Unknown - VUS g.33156020C>G - CRTAP(NM_006371.5):c.451C>G (p.(Leu151Val)) - CRTAP_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.452T>C r.(?) p.(Leu151Pro) Both (homozygous) - pathogenic g.33156021T>C - - - CRTAP_000034 - PubMed: Caparros-Martin 2016 - - Germline - - - - - DNA PCR, SEQ - - OI No. 89 PubMed: Caparros-Martin 2016 - - - Egypt - - - - - 1 Raymond Dalgleish
?/. - c.460G>C r.(?) p.(Ala154Pro) Both (homozygous) - VUS g.33156029G>C g.33114537G>C - - CRTAP_000065 ACMG PVS1, PM2, PP3 PubMed: Tuysuz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat113 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
?/? 1 c.469A>G r.(?) p.(Lys157Glu) Maternal (confirmed) - VUS g.33156038A>G - - - CRTAP_000017 The patient is from family 4.; The c.38C>A and c.469A>G variants reside on the same maternally inherited allele. This combination of alelleic variants is described as c.[38C>A;469A>G]. The relative contributions of these variants to the phenotype is not entirely understood. PubMed: van Dijk 2009 - - Germline - - - - - DNA SEQ - - OI - PubMed: van Dijk 2009 - - - - white - - - - 1 Gerard Pals
+/. - c.470A>G r.(?) p.(Lys157Arg) Parent #2 ACMG likely pathogenic (recessive) g.33156039A>G - - - CRTAP_000055 ACMG PM2 ,PM3, PM5, PP3 PubMed: Kuptanon 2022, Journal: Kuptanon 2022 ClinVar-SCV001976358 - Germline - - - - - DNA SEQ-NG-I - - OI7 Pat2 PubMed: Kuptanon 2022, Journal: Kuptanon 2022 - F yes Thailand - - - - - 1 Thanakorn Theerapanon
+/+ 1i c.471+1G>C r.spl p.? Both (homozygous) - pathogenic g.33156041G>C - - - CRTAP_000005 - PubMed: Barnes 2006 - - Germline - - MwoI+ - - DNA PCR, SEQ - - OI Infant 1 PubMed: Barnes 2006 This patient has been reported subsequently as Proband 3 by PubMed: Chang et al., 2010. - - Pakistan - - - - - 1 Raymond Dalgleish
+/+ 1i c.471+2C>A r.spl p.? Both (homozygous) - pathogenic g.33156042C>A - - - CRTAP_000010 - PubMed: Bodian 2009 - - Germline - - - - - DNA PCR, SEQ - - OI C3 PubMed: Bodian 2009 This patient is referred to as Family 44 in {PMID21239989:Pyott et al., 2011}. - - Iceland - - - - - 1 Peter Byers
+/+ 1i c.471+2C>A r.spl p.? Unknown - pathogenic g.33156042C>A - - - CRTAP_000010 - PubMed: van Dijk 2009 - - Germline - - - - - DNA SEQ - - OI - PubMed: van Dijk 2009 The patient is individual II:1 in family 3. - - - white - - - - 1 Gerard Pals
+/+ 1i c.471+2C>A r.spl p.? Both (homozygous) - pathogenic g.33156042C>A - - - CRTAP_000010 - PubMed: van Dijk 2009 - - Germline - - - - - DNA SEQ - - OI - PubMed: van Dijk 2009 The patient is from family 5.; The patient was subsequently presented in Figure 6B of {PMID22570641:van Dijk et al., 2011} and described as having OI type III. - - - white - - - - 1 Gerard Pals
+/+ 1i c.471+2C>A r.spl p.? Both (homozygous) - pathogenic g.33156042C>A - - - CRTAP_000010 - - - - Germline - - - - - DNA SEQ - - OI - - - - - - - - - - - 1 Margherita Maioli
+/. - c.471+2C>A r.spl? p.? Unknown - pathogenic g.33156042C>A - CRTAP(NM_006371.4):c.471+2C>A (p.?) - CRTAP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.471+2C>A r.(?) p.(?) Unknown - pathogenic g.33156042C>A - - - CRTAP_000010 - - - rs137853943 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1i c.471+4del r.spl p.? Maternal (confirmed) - pathogenic g.33156044del g.33114552del - - CRTAP_000037 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG - WES OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
-?/. - c.471+7C>T r.(=) p.(=) Unknown - likely benign g.33156047C>T - CRTAP(NM_006371.4):c.471+7C>T (p.(=)) - CRTAP_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1i c.472-1021C>G r.spl p.? Both (homozygous) - pathogenic g.33160815C>G - - - CRTAP_000009 - PubMed: Morello 2006 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - OI - PubMed: Morello 2006 The family in which this mutation was detected has previously been described by PubMed: Ward et al., 2002. Further studies on the affected children are presented by PubMed: Fratzl-Zelman et al., 2009. This patient is described as Individual T1 by {PMID25086671:Rauch et al., 2014}. - - Canada First Nations Canadian - - - - 1 Peter Roughley
-?/. - c.483C>G r.(?) p.(=) Unknown - likely benign g.33161847C>G - CRTAP(NM_006371.5):c.483C>G (p.L161=) - CRTAP_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.534C>T r.(?) p.(Asp178=) Unknown - benign g.33161898C>T g.33120406C>T CRTAP(NM_006371.5):c.534C>T (p.D178=) - CRTAP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.534C>T r.(?) p.(Asp178=) Unknown - benign g.33161898C>T g.33120406C>T CRTAP(NM_006371.5):c.534C>T (p.D178=) - CRTAP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2 c.534C>T r.(?) p.(Asp174=) Unknown - benign g.33161898C>T - - - CRTAP_000021 It has been suggested by {PMID26634552:Barbirato et al., 2015} that the homozygous c.558A>G variant alters splicing and so might be the cause of OI type IV in this proband who is homozygous for this variant. I can find no evidence that this variant has an effect on splicing. PubMed: Barbirato 2015 - rs4076086 Germline - - - - - DNA PCR, SEQ, SSCA - - OI P5 PubMed: Barbirato 2015 - - - - - - - - - 1 Raymond Dalgleish
+/. - c.535G>T r.(?) p.(Glu179Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.535G>T r.(?) p.(Glu179Ter) Unknown - pathogenic g.33161899G>T - CRTAP(NM_006371.5):c.535G>T (p.E179*) - CRTAP_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.558A>G r.(?) p.(Ala186=) Unknown - benign g.33161922A>G g.33120430A>G CRTAP(NM_006371.5):c.558A>G (p.A186=) - CRTAP_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/- 2 c.558A>G r.(?) p.(Ala186=) Both (homozygous) - likely pathogenic g.33161922A>G - - - CRTAP_000022 It has been suggested by {PMID26634552:Barbirato et al., 2005} that the homozygous c.558A>G variant alters splicing and so might be the cause of OI type IV in this proband who is homozygous for this variant. I can find no evidence that this variant has an effect on splicing. PubMed: Barbirato 2015 - rs35357409 Germline - - - - - DNA PCR, SEQ, SSCA - - OI P5 PubMed: Barbirato 2015 - - - - - - - - - 1 Raymond Dalgleish
+/. - c.561T>G r.(?) p.(Tyr187*) Both (homozygous) - pathogenic (recessive) g.33161925T>G g.33120433T>G NM_006371.4:c.561T>G:p.(Tyr187*) - CRTAP_000027 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 11DG2122 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - 1 LOVD
+/+ 2 c.561T>G r.(?) p.(Tyr187*) Both (homozygous) - pathogenic g.33161925T>G - - - CRTAP_000027 - PubMed: Shaheen 2012 - - Germline - - - - - DNA PCR, SEQ - - OI OI_F9 PubMed: Shaheen 2012 - - - Saudi Arabia - - - - - 1 Raymond Dalgleish
-?/. - c.582C>T r.(?) p.(Ala194=) Unknown - likely benign g.33161946C>T - CRTAP(NM_006371.4):c.582C>T (p.A194=) - CRTAP_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.583G>A r.(?) p.(Glu195Lys) Unknown - VUS g.33161947G>A - CRTAP(NM_006371.5):c.583G>A (p.E195K) - CRTAP_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.622-16T>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.634C>T r.(?) p.(Arg212*) Unknown - pathogenic g.33165912C>T - - - CRTAP_000020 - PubMed: Chang 2010 - - Germline - - DdeI+ - - DNA PCR, SEQ - - OI Proband 4 PubMed: Chang 2010 - - - United States African-American - - - - 1 Raymond Dalgleish
-?/. - c.641T>C r.(?) p.(Val214Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.641T>C r.(?) p.(Val214Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.654C>T r.(?) p.(=) Unknown - likely benign g.33165932C>T - CRTAP(NM_006371.5):c.654C>T (p.N218=) - CRTAP_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.724G>A r.(?) p.(Glu242Lys) Unknown - VUS g.33166002G>A - CRTAP(NM_006371.4):c.724G>A (p.E242K) - CRTAP_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.731_732del r.(?) p.(Leu244ArgfsTer34) Unknown - pathogenic g.33166009_33166010del - CRTAP(NM_006371.4):c.731_732delTC (p.L244Rfs*34) - CRTAP_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.732C>T r.(?) p.(Leu244=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.779A>G r.(?) p.(Tyr260Cys) Unknown - VUS g.33166057A>G - CRTAP(NM_006371.4):c.779A>G (p.(Tyr260Cys)) - CRTAP_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.794-1403A>G r.[793_794ins794-1472_794-1404,(793_794ins[793+1_793+7;794-1472_794-1404]] p.? Both (homozygous) - pathogenic (recessive) g.33170028A>G g.33128536A>G - - CRTAP_000058 - PubMed: Udupa 2023 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - Whole Exome Sequencing (WES) OI7 Pat1 PubMed: Udupa 2023 A 20-week-old male fetus showed bone developmental abnormalities. The fetus was medically aborted.  M yes ? (unknown) - 00y00m - - - 1 Kim Worring
+/+ 4 c.804_809del r.(?) p.Glu269_Val270del Both (homozygous) - pathogenic g.33171441_33171446del - - - CRTAP_000018 - PubMed: Ben Amor 2011 - - Germline - - - - - DNA SEQ - - OI - PubMed: Ben Amor 2011 - - - Sudan - - - - - 1 Peter Roughley
+/+ 4 c.822_826delinsT r.(?) p.(Lys274Asnfs*11) Unknown - pathogenic g.33171459_33171463delinsT - - - CRTAP_000003 - PubMed: Baldridge 2008 - - Germline - - - - - DNA PCR, SEQ - - OI Proband 2 PubMed: Baldridge 2008 - - - - white - - - - 1 Peter Byers
+/. - c.826C>T r.(?) p.(Gln276*) Both (homozygous) - pathogenic (recessive) g.33171463C>T g.33129971C>T NM_006371.4:c.826C>T:p.(Gln276*) - CRTAP_000006 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 11DG1959 PubMed: Maddirevula 2018 family M yes - Arab - - - - 1 LOVD
+/+ 4 c.826C>T r.(?) p.(Gln276*) Both (homozygous) - pathogenic g.33171463C>T - - - CRTAP_000006 - PubMed: Barnes 2006 - - Germline - - HpyCH4III- - - DNA PCR, SEQ - - OI Infant 2 PubMed: Barnes 2006 This patient has been reported subsequently as Proband 2 by PubMed: Chang et al., 2010.; This patients family has the ID OI_F8 and is of Saudi Arabian origin ({PMID23054245:Shaheen et al., 2012}). This appears to be at odds with the original description of the patient as black. - - - black - - - - 1 Raymond Dalgleish
+/+ 4 c.826C>T r.(?) p.(Gln276*) Unknown - pathogenic g.33171463C>T - - - CRTAP_000006 - PubMed: Chang 2010 - - Germline - - HpyCH4III- - - DNA PCR, SEQ - - OI Proband 4 PubMed: Chang 2010 - - - United States African-American - - - - 1 Raymond Dalgleish
+/+ 4 c.879del r.(?) p.Phe293Leufs*16 Both (homozygous) - pathogenic g.33171516del - c.879delT - CRTAP_000008 - PubMed: Morello 2006 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Morello 2006 This patient is referred to as Family 45 in {PMID21239989:Pyott et al., 2011}. - - India - - - - - 1 Peter Byers
-/. - c.888C>T r.(?) p.(Thr296=) Unknown - benign g.33171525C>T - CRTAP(NM_006371.5):c.888C>T (p.T296=) - CRTAP_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4i c.923-2A>G r.spl p.? Paternal (inferred) - pathogenic g.33174045A>G - - - CRTAP_000016 The patient is from family 4.; The c.38C>A and c.469A>G variants reside on the same maternally inherited allele. This combination of alelleic variants is described as c.[38C>A;469A>G]. The relative contributions of these variants to the phenotype is not entirely understood. PubMed: van Dijk 2009 - - Germline - - - - - DNA SEQ - - OI - PubMed: van Dijk 2009 - - - - white - - - - 1 Gerard Pals
+/? 5 c.976C>T r.(?) p.(Gln326*) Both (homozygous) - pathogenic g.33174100C>T - - - CRTAP_000032 - PubMed: Essawi 2018, Journal: Essawi 2018 - - Germline - - - - - DNA PCR, SEQ - - OI AN_005817 PubMed: Essawi 2018, Journal: Essawi 2018 - - - Palestine - - - - - 1 Sofie Symoens
+/? 5 c.976C>T r.(?) p.(Gln326*) Both (homozygous) - pathogenic g.33174100C>T - - - CRTAP_000032 - PubMed: Essawi 2018, Journal: Essawi 2018 - - Germline - - - - - DNA PCR, SEQ - - OI AN_005818 PubMed: Essawi 2018, Journal: Essawi 2018 - M - Palestine - - - - - 1 Sofie Symoens
+?/. - c.986del r.(?) p.(Lys329Argfs*36) Both (homozygous) - likely pathogenic g.33174110del g.33132618del - - CRTAP_000048 - PubMed: Demir 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 57-gene panel OI B39 PubMed: Demir 2021 analysis 43 OI patients F - Turkey - - - - - 1 Johan den Dunnen
-?/. - c.994C>G r.(?) p.(Gln332Glu) Unknown - likely benign g.33174118C>G - CRTAP(NM_006371.4):c.994C>G (p.(Gln332Glu)) - CRTAP_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1032T>G r.(?) p.(Thr344=) Unknown - benign g.33174156T>G g.33132664T>G CRTAP(NM_006371.5):c.1032T>G (p.T344=) - CRTAP_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1032T>G r.(?) p.(Thr344=) Unknown - benign g.33174156T>G g.33132664T>G CRTAP(NM_006371.5):c.1032T>G (p.T344=) - CRTAP_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/- 5 c.1032T>G r.(?) p.(=) Unknown - VUS g.33174156T>G - - - CRTAP_000023 - - - rs1135127 Germline - - - - - ? ? - - ? - - - - - - - - - - - 1 Raymond Dalgleish
?/. - c.1039C>T r.(?) p.(Leu347Phe) Unknown - VUS g.33174163C>T - CRTAP(NM_006371.4):c.1039C>T (p.(Leu347Phe)), CRTAP(NM_006371.5):c.1039C>T (p.L347F) - CRTAP_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1039C>T r.(?) p.(Leu347Phe) Unknown - likely benign g.33174163C>T - CRTAP(NM_006371.4):c.1039C>T (p.(Leu347Phe)), CRTAP(NM_006371.5):c.1039C>T (p.L347F) - CRTAP_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1044G>A r.(?) p.(Ser348=) Unknown - benign g.33174168G>A g.33132676G>A CRTAP(NM_006371.5):c.1044G>A (p.S348=) - CRTAP_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1044G>A r.(?) p.(Ser348=) Unknown - benign g.33174168G>A g.33132676G>A CRTAP(NM_006371.5):c.1044G>A (p.S348=) - CRTAP_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/- 5 c.1044G>A r.(?) p.(=) Unknown - VUS g.33174168G>A - - - CRTAP_000024 - - - rs1135128 Germline - - - - - ? ? - - ? - - - - - - - - - - - 1 Raymond Dalgleish
+/+ 5 c.1046A>G r.(?) p.(Asp349_Pro356del) Both (homozygous) - pathogenic g.33174170A>G - - - CRTAP_000033 The base substitution appears to create a donor splice site which will result in loss of 24 bases from the end of exon 5. This is predicted to result in the protein-level variant p.(Asp349_Pro356del). PubMed: Caparros-Martin 2016 - - Germline - - - - - DNA PCR, SEQ - - OI No. 53 PubMed: Caparros-Martin 2016 - - - Egypt - - - - - 1 Raymond Dalgleish
+/+ 6 c.1112dup r.(?) p.(Tyr372Valfs*2) Both (homozygous) - pathogenic g.33175717dup - - - CRTAP_000035 - PubMed: Caparros-Martin 2016 - - Germline - - - - - DNA SEQ-NG, PCR, SEQ - custom gene panel OI No. 1010 PubMed: Caparros-Martin 2016 Both parents are heterozygous for the c.1112dup variant but no DNA was available for testing from the proband. - - Sudan - - - - - 1 Raymond Dalgleish
-/- 6i c.1152+36C>A r.(?) p.(=) Unknown - benign g.33175793C>A - - - CRTAP_000031 It has been suggested by {PMID26634552:Barbirato et al., 2015} that the homozygous c.558A>G variant alters splicing and so might be the cause of OI type IV in this proband who is homozygous for this variant. I can find no evidence that this variant has an effect on splicing. PubMed: Barbirato 2015 - - Germline - - - - - DNA PCR, SEQ, SSCA - - OI P5 PubMed: Barbirato 2015 - - - - - - - - - 1 Raymond Dalgleish
-?/. - c.1153-8T>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
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