Full data view for gene FKBP10


Osteogenesis Imperfecta Variant Database
Information The variants shown are described using the NM_021939.3 transcript reference sequence.

198 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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 4i_10_ c.727+102_*809{0} r.? p.? Paternal (confirmed) - pathogenic g.39974881_39980318del - - - FKBP10_000045 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - 0 - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - 0 - - 1 Xiuli Zhao
+/+ 1 c.14del r.(?) p.(Gly5Alafs*154) Both (homozygous) - pathogenic g.39969300del g.41813048del 14delG - FKBP10_000020 - PubMed: Schwarze 2013 - - Germline - - - 0 - DNA PCR, SEQ - - BRKS Family O PubMed: Schwarze 2013 - - - - - - 0 - - 1 Peter Byers
+/+ 1 c.21dup r.(?) p.(Ser8Glnfs*67) Both (homozygous) - pathogenic g.39969307dup - 21dupC - FKBP10_000015 - PubMed: Caparrós-Martin 2013 - - Germline - - - 0 - DNA SEQ - - OI Family 5 PubMed: Caparrós-Martin 2013 - - - Egypt - - 0 - - 1 Victor L Ruiz-Perez
+/+ 1 c.21dup r.(?) p.(Ser8Glnfs*67) Both (homozygous) - pathogenic g.39969307dup - 21dupC - FKBP10_000015 - PubMed: Trancozo 2019 - - Germline - - - 0 - DNA SEQ - - OI P.27 PubMed: Trancozo 2019 - - - Brazil - - 0 - - 1 Raymond Dalgleish
?/. - c.106C>A r.(?) p.(Pro36Thr) Unknown - VUS g.39969392C>A g.41813140C>A FKBP10(NM_021939.3):c.106C>A (p.P36T) - FKBP10_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.122_156del r.(?) p.(Leu41Glnfs*22) Both (homozygous) - pathogenic g.39969408_39969442del - - - FKBP10_000007 - PubMed: Kelley 2011 - - Germline - - - 0 - DNA PCR, SEQ - - BRKS Case 2 PubMed: Kelley 2011 The parents are consanguineous.; Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 ({PMID9927692:Bank et al., 1999}), whereas FKBP10 maps to 17q21.2. - yes - Punjabi - 0 - - 1 Raymond Dalgleish
-?/. - c.172G>A r.(?) p.(Glu58Lys) Unknown - likely benign g.39969458G>A g.41813206G>A FKBP10(NM_021939.3):c.172G>A (p.(Glu58Lys)) - FKBP10_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.179A>C r.(?) p.(Gln60Pro) Unknown - pathogenic g.39969465A>C - - - FKBP10_000054 - PubMed: Trancozo 2019 - - Germline - - - 0 - DNA SEQ - - OI P.28 PubMed: Trancozo 2019 - - - Brazil - - 0 - - 1 Raymond Dalgleish
+/+ 1 c.204delinsAAA r.(?) p.(His68Glnfs*92) Both (homozygous) - pathogenic g.39969490delinsAAA - - - FKBP10_000028 - PubMed: Moravej 2015 - - Germline - - - 0 - DNA PCR, SEQ - - BRKS - PubMed: Moravej 2015 The parents of the proband are first cousins. - yes Iran - - 0 - - 1 Raymond Dalgleish
?/. - c.210C>G r.(?) p.(Asn70Lys) Unknown - VUS g.39969496C>G g.41813244C>G FKBP10(NM_021939.3):c.210C>G (p.N70K) - FKBP10_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.245+18C>T r.(=) p.(=) Unknown - benign g.39969549C>T g.41813297C>T FKBP10(NM_021939.3):c.245+18C>T - FKBP10_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.246-283T>A r.(=) p.(=) Unknown - likely benign g.39973027T>A - FKBP10(NM_021939.3):c.246-283T>A - FKBP10_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.246-5C>G r.spl? p.? Unknown - likely benign g.39973305C>G g.41817053C>G FKBP10(NM_021939.3):c.246-5C>G - FKBP10_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.288dup r.(?) p.(Arg97Alafs*101) Both (homozygous) - pathogenic g.39973352dup - 288dupG - FKBP10_000021 - PubMed: Schwarze 2013 - - Germline - - - 0 - DNA PCR, SEQ - - BRKS Family P PubMed: Schwarze 2013 - - - Somalia Africa-E - 0 - - 1 Peter Byers
+?/. - c.310C>T r.(?) p.(Arg104Ter) Unknown - likely pathogenic g.39973374C>T - FKBP10(NM_021939.3):c.310C>T (p.(Arg104Ter)) - FKBP10_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.310C>T r.(?) p.(Arg104*) Both (homozygous) - pathogenic g.39973374C>T - - - FKBP10_000037 - PubMed: Caparros-Martin 2016 - - Germline - - - 0 - DNA PCR, SEQ - - BRKS No. 1004 PubMed: Caparros-Martin 2016 - - - Egypt - - 0 - - 1 Raymond Dalgleish
+/+ 2 c.321_353del r.(?) p.(Met107_Leu117del) Both (homozygous) - pathogenic g.39973385_39973417del - - - FKBP10_000001 - PubMed: Alanay 2010 - - Germline - - - 0 - DNA PCR, SEQ - - OI - PubMed: Alanay 2010 There is a founder effect for this variant which was detected in the five Turkish families described in the paper.; The variant is mistakenly described at the protein level as p.Gly107_Leu117del. - - Turkey - - 0 - - 1 Peter Byers
+/. - c.337G>A r.(?) p.(Glu113Lys) Both (homozygous) - pathogenic (recessive) g.39973401G>A g.41817149G>A NM_021939.3:c.337G>A:p.(Glu113Lys) - FKBP10_000022 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 14DG1580 PubMed: Maddirevula 2018 isolated case F yes - Arab - 0 - - 1 LOVD
+/+ 2 c.337G>A r.(?) p.(Glu113Lys) Both (homozygous) - pathogenic g.39973401G>A - - - FKBP10_000022 - PubMed: Schwarze 2013 - - Germline - - - 0 - DNA PCR, SEQ - - BRKS Family Q PubMed: Schwarze 2013 - - - - - - 0 - - 1 Peter Byers
+/+ 2 c.337G>A r.(?) p.(Glu113Lys) Both (homozygous) - pathogenic g.39973401G>A - - - FKBP10_000022 - PubMed: Schwarze 2013 - - Germline - - - 0 - DNA PCR, SEQ - - BRKS Family R PubMed: Schwarze 2013 This patient was previously described by {PMID9129737:McPherson and Clemens 1997}. - - - - - 0 - - 1 Peter Byers
+/. - c.343C>T r.(?) p.(Arg115Ter) Unknown - pathogenic g.39973407C>T g.41817155C>T FKBP10(NM_021939.3):c.343C>T (p.R115*) - FKBP10_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.343C>T r.(?) p.(Arg115*) Parent #1 - pathogenic (recessive) g.39973407C>T g.41817155C>T - - FKBP10_000033 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - 0 - DNA SEQ-NG - targeted 14-gene panel OI OI Fam30 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - 0 - - 1 Johan den Dunnen
+/+ 2 c.343C>T r.(?) p.(Arg115*) Maternal (confirmed) - pathogenic g.39973407C>T - - - FKBP10_000033 The protein-level variant description for the paternal allele is incorrectly described by the authors as p.A362fsX1.; The family in this study was presented again as Family 30 by {PMID28725987:Liu et al., 2017} with a phenotype of OI III. PubMed: Xu 2017 - - Germline - - - 0 - DNA SEQ-NG, PCR, SEQ - custom gene panel OI Family 1 PubMed: Xu 2017 - - - China Han - 0 - - 1 Raymond Dalgleish
+/? 2 c.343C>T r.(?) p.(Arg115*) Unknown - pathogenic g.39973407C>T - - - FKBP10_000033 - PubMed: Vorster 2017 - - Germline - - - 0 - DNA SEQ - - OI - PubMed: Vorster 2017 - - - South Africa Bantu (Zulu) - 0 - - 1 Raymond Dalgleish
+/+? 2 c.344G>A r.(?) p.(Arg115Gln) Unknown - pathogenic g.39973408G>A - - - FKBP10_000009 No supporting evidence is presented that the misense p.(Arg115Gln) variant is disease-causing.; Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 ({PMID9927692:Bank et al., 1999}), whereas FKBP10 maps to 17q21.2. PubMed: Kelley 2011 - - Germline - - - 0 - DNA PCR, SEQ - - BRKS Case 6 PubMed: Kelley 2011 - - - - white - 0 - - 1 Raymond Dalgleish
+/+ 2 c.344G>A r.(?) p.(Arg115Gln) Both (homozygous) - pathogenic g.39973408G>A - - - FKBP10_000009 - PubMed: Schwarze 2013 - - Germline - - - 0 - DNA PCR, SEQ - - BRKS Family K PubMed: Schwarze 2013 The three affected individuals in this family have been described previously by {PMID9481655:Breslau-Siderius et al., 1998} and {PMID9927692:Bank et al., 1999}. - - - Kurdish - 0 - - 1 Peter Byers
+/+ 2 c.344G>A r.(?) p.(Arg115Gln) Both (homozygous) - pathogenic g.39973408G>A - - - FKBP10_000009 - PubMed: Umair 2016 - - Germline - - - 0 - DNA PCR, SEQ - - OI Family B PubMed: Umair 2016 - - - Pakistan - - 0 - - 1 Raymond Dalgleish
+/+ 2 c.344G>A r.(?) p.(Arg115Gln) Paternal (confirmed) - pathogenic g.39973408G>A - - - FKBP10_000009 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - 0 - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - 0 - - 1 Xiuli Zhao
+/+ 2i c.391+4A>T r.spl p.? Both (homozygous) - pathogenic g.39973459A>T - - - FKBP10_000031 This variant was identified in 8 affected members of the same family. The variant causes a skip of exon 2.; This patient might be related to patient AN_005834 who is homozygous for the same variant and is also from the same city. PubMed: Essawi 2018 - - Germline - - - 0 - DNA, RNA, protein PCR, RT-PCR, SEQ, Western - - OI AN_005833 PubMed: Essawi 2018 - - - Palestine - - 0 - - 1 Sofie Symoens
+/+ 2i c.391+4A>T r.spl p.? Both (homozygous) - pathogenic g.39973459A>T - - - FKBP10_000031 - PubMed: Essawi 2018 - - Germline - - - 0 - DNA PCR, SEQ - - OI AN_005834 PubMed: Essawi 2018 This patient might be related to patient AN_005833 who is homozygous for the same variant and is also from the same city. - - Palestine - - 0 - - 1 Sofie Symoens
+/+ 3 c.407C>T r.(?) p.(Pro136Leu) Both (homozygous) - pathogenic g.39974356C>T - - - FKBP10_000023 - PubMed: Schwarze 2013 - - Germline - - - 0 - DNA PCR, SEQ - - BRKS Family S PubMed: Schwarze 2013 - - - - - - 0 - - 1 Peter Byers
-?/. - c.420C>G r.(?) p.(Leu140=) Unknown - likely benign g.39974369C>G g.41818117C>G FKBP10(NM_021939.3):c.420C>G (p.L140=) - FKBP10_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.582-4G>T r.spl? p.? Unknown - likely benign g.39974630G>T - FKBP10(NM_021939.3):c.582-4G>T - FKBP10_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.590A>G r.(?) p.(Lys197Arg) Unknown - benign g.39974642A>G g.41818390A>G FKBP10(NM_021939.3):c.590A>G (p.(Lys197Arg), p.K197R) - FKBP10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.590A>G r.(?) p.(Lys197Arg) Unknown - likely benign g.39974642A>G g.41818390A>G FKBP10(NM_021939.3):c.590A>G (p.(Lys197Arg), p.K197R) - FKBP10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.590A>G r.(?) p.(Lys197Arg) Parent #1 - VUS g.39974642A>G g.41818390A>G - - FKBP10_000003 conflicting interpretations of pathogenicity; 176 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34764749 Germline - 176/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 176 Mohammed Faruq
?/. - c.590A>G r.(?) p.(Lys197Arg) Both (homozygous) - VUS g.39974642A>G g.41818390A>G - - FKBP10_000003 conflicting interpretations of pathogenicity; 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34764749 Germline - 4/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 4 Mohammed Faruq
+/? 4 c.590A>G r.(?) p.(Lys197Arg) Maternal (confirmed) - pathogenic g.39974642A>G - - - FKBP10_000003 - PubMed: Barbirato 2016 - rs34764749 Germline - - - 0 - DNA SEQ - - OI P.1 PubMed: Barbirato 2016 - - - Brazil - - 0 - - 1 Raymond Dalgleish
+/+ 4 c.600_604del r.(?) p.(Tyr201Hisfs*58) Both (homozygous) - pathogenic g.39974652_39974656del - - - FKBP10_000012 - PubMed: Setijowati 2011 - - Germline - - - 0 - DNA PCR, SEQ - - BRKS - PubMed: Setijowati 2011 The parents of the patient are second cousins. - yes Indonesia - - 0 - - 1 Raymond Dalgleish
+/+ 4 c.612C>G r.(?) p.(Tyr204*) Both (homozygous) - pathogenic g.39974664C>G - - - FKBP10_000038 - PubMed: Velasco and Morales, 2017 - - Germline - - - 0 - DNA PCR, SEQ, SEQ-NG - WES OI - PubMed: Velasco and Morales, 2017 The parents are first cousins. The authors also report that their patient has a type III OI phenotype. - yes Colombia - - 0 - - 1 Raymond Dalgleish
+/+ 4 c.689T>C r.(?) p.(Ile230Thr) Both (homozygous) - pathogenic g.39974741T>C - - - FKBP10_000016 - PubMed: Caparrós-Martin 2013 - - Germline - - - 0 - DNA SEQ - - OI Family 6 PubMed: Caparrós-Martin 2013 - - - Lebanon - - 0 - - 1 Victor L Ruiz-Perez
+/. - c.703del r.(?) p.(Leu235Trpfs*11) Unknown - pathogenic g.39974755del - FKBP10(NM_021939.3):c.703delC (p.L235Wfs*11) - FKBP10_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.727+236C>A r.(=) p.(=) Unknown - likely benign g.39975015C>A g.41818763C>A FKBP10(NM_021939.3):c.727+236C>A - FKBP10_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.732A>G r.(?) p.(Thr244=) Unknown - benign g.39975466A>G g.41819214A>G FKBP10(NM_021939.3):c.732A>G (p.T244=) - FKBP10_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/- 5 c.732A>G r.(?) p.(=) Unknown - VUS g.39975466A>G - - - FKBP10_000004 - - - rs8078775 Germline - - - 0 - ? ? - - ? - - - - - - - - 0 - - 1 Raymond Dalgleish
+/+ 5 c.743dup r.(?) p.(Gln249Thrfs*12) Both (homozygous) - pathogenic g.39975477dup - 743dupC - FKBP10_000010 - PubMed: Shaheen 2011 - - Germline - - - 0 - DNA PCR, SEQ - - BRKS Family 1 PubMed: Shaheen 2011 The parents are consanguineous and there is phenotypic variability between the proband and her older sister as well as with affected cousins.; This patients family has the ID OI_F1 ({PMID23054245:Shaheen et al., 2012}). - yes Saudi Arabia - - 0 - - 1 Raymond Dalgleish
+/+ 5 c.743dup r.(?) p.(Gln249Thrfs*12) Both (homozygous) - pathogenic g.39975477dup - 743dupC - FKBP10_000010 - PubMed: Schwarze 2013 - - Germline - - - 0 - DNA PCR, SEQ - - OI Family M PubMed: Schwarze 2013 Both affected individuals in this family are described as having OI III rather than Bruck syndrome. - - - - - 0 - - 1 Peter Byers
+/. - c.764_772dup r.(?) p.(His255_Leu257dup) Parent #1 - pathogenic (recessive) g.39975498_39975506dup g.41819246_41819254dup 764_772dupACGTCCTCC - FKBP10_000026 - PubMed: Zhou 2014 - - Germline - - - 0 - DNA SEQ - - OI Fam1Pat1 PubMed: Zhou 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - 0 - - 1 Johan den Dunnen
+/+ 5 c.764_772dup r.(?) p.(His255_Leu257dup) Paternal (confirmed) - pathogenic g.39975498_39975506dup - - - FKBP10_000026 - PubMed: Zhou 2014 - - Germline - - - 0 - DNA PCR, SEQ - - BRKS Family 1 PubMed: Zhou 2014 - - - China - - 0 - - 1 Raymond Dalgleish
+/+ 5 c.809_843del r.(?) p.(Leu270Glnfs*91) Paternal (confirmed) - pathogenic g.39975543_39975577del g.41819291_41819325del - - FKBP10_000041 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - 0 - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - 0 - - 1 Xiuli Zhao
+/+ 5 c.813_814del r.(?) p.(Glu271Aspfs*101) Maternal (confirmed) - pathogenic g.39975547_39975548del g.41819295_41819296del - - FKBP10_000040 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - 0 - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - 0 - - 1 Xiuli Zhao
+/+ 5 c.813_814del r.(?) p.(Glu271Aspfs*101) Maternal (confirmed) - pathogenic g.39975547_39975548del - - - FKBP10_000040 - PubMed: Zhang 2018 - - Germline - - - 0 - DNA SEQ - - OI Family 3 PubMed: Zhang 2018 - - - China - - 0 - - 1 Raymond Dalgleish
+/+ 5 c.831del r.(?) p.(Gly278Alafs*20) Maternal (confirmed) - pathogenic g.39975565del - 831delC - FKBP10_000039 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - 0 - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - 0 - - 1 Xiuli Zhao
+/+ 5 c.831del r.(?) p.(Gly278Alafs*20) Maternal (confirmed) - pathogenic g.39975565del - 831delC - FKBP10_000039 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - 0 - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - 0 - - 1 Xiuli Zhao
+/+ 5 c.831del r.(?) p.(Gly278Alafs*20) Paternal (confirmed) - pathogenic g.39975565del - 831delC - FKBP10_000039 - PubMed: Zhang 2018 - - Germline - - - 0 - DNA SEQ - - OI Family 3 PubMed: Zhang 2018 - - - China - - 0 - - 1 Raymond Dalgleish
+/? 5 c.831del r.(?) p.(Gly278Alafs*20) Unknown - pathogenic g.39975565del - 831delC - FKBP10_000039 - PubMed: Vorster 2017 - - Germline - - - 0 - DNA SEQ - - OI - PubMed: Vorster 2017 - - - South Africa Bantu (Sotho) - 0 - - 1 Raymond Dalgleish
+/? 5 c.831del r.(?) p.(Gly278Alafs*20) Unknown - pathogenic g.39975565del - 831delC - FKBP10_000039 - PubMed: Vorster 2017 - - Germline - - - 0 - DNA SEQ - - OI - PubMed: Vorster 2017 - - - South Africa Bantu (Sotho) - 0 - - 1 Raymond Dalgleish
+/? 5 c.831del r.(?) p.(Gly278Alafs*20) Unknown - pathogenic g.39975565del - 831delC - FKBP10_000039 - PubMed: Vorster 2017 - - Germline - - - 0 - DNA SEQ - - OI - PubMed: Vorster 2017 - - - South Africa Bantu (Sotho) - 0 - - 1 Raymond Dalgleish
+/? 5 c.831del r.(?) p.(Gly278Alafs*20) Unknown - pathogenic g.39975565del - 831delC - FKBP10_000039 - PubMed: Vorster 2017 - - Germline - - - 0 - DNA SEQ - - OI - PubMed: Vorster 2017 - - - South Africa Bantu (Sotho) - 0 - - 1 Raymond Dalgleish
+/. - c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic (recessive) g.39975565dup g.41819313dup 831dupC - FKBP10_000002 - PubMed: Santana 2019 - - Germline - - - 0 - DNA SEQ - - OI Case3 PubMed: Santana 2019 - M - United States - - 0 - - 1 Johan den Dunnen
+/. 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic (recessive) g.39975565dup g.41819313dup 831dupC - FKBP10_000002 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - 0 - DNA SEQ-NG - targeted 14-gene panel OI OI Fam86 PubMed: Liu 2017 analysis 101 unrelated OI families F - China - - 0 - - 1 Johan den Dunnen
+/. - c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic (recessive) g.39975565dup g.41819313dup NM_021939.3:c.831dupC:p.(Gly278Argfs*95) - FKBP10_000002 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 10DG1368 PubMed: Maddirevula 2018 family M yes - Arab - 0 - - 1 LOVD
+/. - c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic (recessive) g.39975565dup g.41819313dup NM_021939.3:c.831dupC:p.(Gly278Argfs*95) - FKBP10_000002 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 11DG0234 PubMed: Maddirevula 2018 isolated case F yes - Arab - 0 - - 1 LOVD
+/+ 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 The variant is mistakenly described as c.831_832insC and the frameshift as p.Gly278ArgfsX295 in the paper. PubMed: Alanay 2010 - rs137853883 Germline - - - 0 - DNA PCR, SEQ - - OI - PubMed: Alanay 2010 - - - Turkey - - 0 - - 1 Peter Byers
+/+ 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Kelley 2011 - rs137853883 Germline - - - 0 - DNA PCR, SEQ - - BRKS Case 1 PubMed: Kelley 2011 The parents are first cousins.; Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 ({PMID9927692:Bank et al., 1999}), whereas FKBP10 maps to 17q21.2. - yes Turkey - - 0 - - 1 Raymond Dalgleish
+/+ 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Kelley 2011 - rs137853883 Germline - - - 0 - DNA PCR, SEQ - - BRKS Case 3 PubMed: Kelley 2011 The parents are consanguineous. There is variable expressivity in the family: the elder sister (Case 4) has a phenotype more consistent with type III OI. The clinical histories of cases 3 and 4 have been reported previously by {PMID16307191:Mokete et al., 2005}.; Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 ({PMID9927692:Bank et al., 1999}), whereas FKBP10 maps to 17q21.2. - yes South Africa Venda - 0 - - 1 Raymond Dalgleish
+/+ 5 c.831dup r.(?) p.(Gly278Argfs*95) Unknown - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Kelley 2011 - rs137853883 Germline - - - 0 - DNA PCR, SEQ - - BRKS Case 5 PubMed: Kelley 2011 The clinical history of the patient has been described twice before by {PMID2766569:Viljoen et al., 1989} and by {PMID16307191:Mokete et al., 2005}.; Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 ({PMID9927692:Bank et al., 1999}), whereas FKBP10 maps to 17q21.2. - - South Africa - - 0 - - 1 Raymond Dalgleish
+/+ 5 c.831dup r.(?) p.(Gly278Argfs*95) Unknown - pathogenic g.39975565dup - 831dupC - FKBP10_000002 No supporting evidence is presented that the misense p.(Arg115Gln) variant is disease-causing.; Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 ({PMID9927692:Bank et al., 1999}), whereas FKBP10 maps to 17q21.2. PubMed: Kelley 2011 - rs137853883 Germline - - - 0 - DNA PCR, SEQ - - BRKS Case 6 PubMed: Kelley 2011 - - - - white - 0 - - 1 Raymond Dalgleish
+/+ 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Shaheen 2011 - rs137853883 Germline - - - 0 - DNA PCR, SEQ - - BRKS Family 2 PubMed: Shaheen 2011 The parents are first cousins with three noenatal deaths with frcatures and presumed diagnosis of OI. - yes Saudi Arabia - - 0 - - 1 Raymond Dalgleish
+/+ 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Caparrós-Martin 2013 - rs137853883 Germline - - - 0 - DNA SEQ - - BRKS Family 7 PubMed: Caparrós-Martin 2013 proband, older sister (AN_002118) has the phenotype of type III OI. - - Sudan - - 0 - - 1 Victor L Ruiz-Perez
+/+ 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Schwarze 2013 - rs137853883 Germline - - - 0 - DNA PCR, SEQ - - BRKS Family N PubMed: Schwarze 2013 - - - - - - 0 - - 1 Peter Byers
+/+ 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Schwarze 2013 - rs137853883 Germline - - - 0 - DNA PCR, SEQ - - OI Family U PubMed: Schwarze 2013 - - - - - - 0 - - 1 Raymond Dalgleish
+/+ 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Schwarze 2013 - rs137853883 Germline - - - 0 - DNA PCR, SEQ - - BRKS Family T PubMed: Schwarze 2013 - - - - - - 0 - - 1 Peter Byers
+/+ 5 c.831dup r.(?) p.(Gly278Argfs*95) Paternal (confirmed) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Schwarze 2013 - rs137853883 Germline - - - 0 - DNA PCR, SEQ - - BRKS Family C PubMed: Schwarze 2013 - - - Samoa Samoa;Europe - 0 - - 1 Peter Byers
+/+ 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Umair 2016 - rs137853883 Germline - - - 0 - DNA PCR, SEQ - - OI Family C PubMed: Umair 2016 Affected members of the family are descibed as having severe progressive OI. - - Pakistan - - 0 - - 1 Raymond Dalgleish
+/+ 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Kaneto 2016 - rs137853883 Germline - - - 0 - DNA PCR, SEQ - - BRKS - PubMed: Kaneto 2016 - - - - - - 0 - - 1 Raymond Dalgleish
+/+ 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Xu 2017 - rs137853883 Germline - - - 0 - DNA SEQ-NG, PCR, SEQ - custom gene panel OI Family 3 PubMed: Xu 2017 - - - China Han - 0 - - 1 Raymond Dalgleish
+/+ 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Alabdullatif 2016 - rs137853883 Germline - - - 0 - DNA arrayCGH, PCR, SEQ - - OI 227 PubMed: Alabdullatif 2016 - - - - - - 0 - - 1 Raymond Dalgleish
+/+ 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Caparros-Martin 2016 - rs137853883 Germline - - - 0 - DNA PCR, SEQ - - OI No. 85 PubMed: Caparros-Martin 2016 - - - Egypt - - 0 - - 1 Raymond Dalgleish
+/? 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup g.41819313dup 831dupC - FKBP10_000002 - PubMed: Mrosk 2018 - rs137853883 Germline - - - 0 - DNA SEQ - - BRKS P2 PubMed: Mrosk 2018 - - - India - - 0 - - 1 Raymond Dalgleish
+/? 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Vorster 2017 - rs137853883 Germline - - - 0 - DNA SEQ - - OI - PubMed: Vorster 2017 - - - - - - 0 - - 1 Raymond Dalgleish
+/? 5 c.831dup r.(?) p.(Gly278Argfs*95) Unknown - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Vorster 2017 - rs137853883 Germline - - - 0 - DNA SEQ - - OI - PubMed: Vorster 2017 - - - South Africa Bantu (Sotho) - 0 - - 1 Raymond Dalgleish
+/? 5 c.831dup r.(?) p.(Gly278Argfs*95) Unknown - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Vorster 2017 - rs137853883 Germline - - - 0 - DNA SEQ - - OI - PubMed: Vorster 2017 - - - South Africa Bantu (Sotho) - 0 - - 1 Raymond Dalgleish
+/? 5 c.831dup r.(?) p.(Gly278Argfs*95) Unknown - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Vorster 2017 - rs137853883 Germline - - - 0 - DNA SEQ - - OI - PubMed: Vorster 2017 - - - South Africa Bantu (Sotho) - 0 - - 1 Raymond Dalgleish
+/? 5 c.831dup r.(?) p.(Gly278Argfs*95) Unknown - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Vorster 2017 - rs137853883 Germline - - - 0 - DNA SEQ - - OI - PubMed: Vorster 2017 - - - South Africa Bantu (Sotho) - 0 - - 1 Raymond Dalgleish
+/? 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Vorster 2017 - rs137853883 Germline - - - 0 - DNA SEQ - - OI - PubMed: Vorster 2017 - - - South Africa Bantu (Sotho) - 0 - - 1 Raymond Dalgleish
+/? 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Vorster 2017 - rs137853883 Germline - - - 0 - DNA SEQ - - OI - PubMed: Vorster 2017 - - - South Africa Bantu (Sotho) - 0 - - 1 Raymond Dalgleish
+/? 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Vorster 2017 - rs137853883 Germline - - - 0 - DNA SEQ - - OI - PubMed: Vorster 2017 - - - South Africa Bantu (Sotho) - 0 - - 1 Raymond Dalgleish
+/? 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Vorster 2017 - rs137853883 Germline - - - 0 - DNA SEQ - - OI - PubMed: Vorster 2017 - - - South Africa Bantu (Sotho) - 0 - - 1 Raymond Dalgleish
+/? 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Vorster 2017 - rs137853883 Germline - - - 0 - DNA SEQ - - OI - PubMed: Vorster 2017 - - - South Africa Bantu (Xhosa) - 0 - - 1 Raymond Dalgleish
+/? 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Vorster 2017 - rs137853883 Germline - - - 0 - DNA SEQ - - OI - PubMed: Vorster 2017 - - - South Africa Bantu (Zulu) - 0 - - 1 Raymond Dalgleish
+/? 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Vorster 2017 - rs137853883 Germline - - - 0 - DNA SEQ - - OI - PubMed: Vorster 2017 - - - South Africa Bantu (Zulu) - 0 - - 1 Raymond Dalgleish
+/? 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Vorster 2017 - rs137853883 Germline - - - 0 - DNA SEQ - - OI - PubMed: Vorster 2017 - - - South Africa Bantu (Zulu) - 0 - - 1 Raymond Dalgleish
+/? 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Vorster 2017 - rs137853883 Germline - - - 0 - DNA SEQ - - OI - PubMed: Vorster 2017 - - - South Africa Bantu (Zulu) - 0 - - 1 Raymond Dalgleish
+/? 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Vorster 2017 - rs137853883 Germline - - - 0 - DNA SEQ - - OI - PubMed: Vorster 2017 - - - South Africa Bantu (Zulu) - 0 - - 1 Raymond Dalgleish
+/? 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Vorster 2017 - rs137853883 Germline - - - 0 - DNA SEQ - - ? - PubMed: Vorster 2017 - - - South Africa Bantu (Zulu) - 0 - - 1 Raymond Dalgleish
+/? 5 c.831dup r.(?) p.(Gly278Argfs*95) Unknown - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Vorster 2017 - rs137853883 Germline - - - 0 - DNA SEQ - - OI - PubMed: Vorster 2017 - - - South Africa Bantu (Zulu) - 0 - - 1 Raymond Dalgleish
+/? 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Vorster 2017 - rs137853883 Germline - - - 0 - DNA SEQ - - OI - PubMed: Vorster 2017 - - - South Africa Bantu (Xhosa) - 0 - - 1 Raymond Dalgleish
+/? 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Vorster 2017 - rs137853883 Germline - - - 0 - DNA SEQ - - OI - PubMed: Vorster 2017 - - - South Africa Bantu (Xhosa) - 0 - - 1 Raymond Dalgleish
+/? 5 c.831dup r.(?) p.(Gly278Argfs*95) Both (homozygous) - pathogenic g.39975565dup - 831dupC - FKBP10_000002 - PubMed: Vorster 2017 - rs137853883 Germline - - - 0 - DNA SEQ - - OI - PubMed: Vorster 2017 - - - South Africa Bantu (Xhosa) - 0 - - 1 Raymond Dalgleish
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