Full data view for gene P3H1


Osteogenesis Imperfecta Variant Database
Information The variants shown are described using the NM_022356.3 transcript reference sequence.

248 entries on 3 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     

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Gender     

Consanguinity     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 1 c.9dup r.(?) p.(Arg4Thrfs*33) Both (homozygous) - pathogenic g.43232634dup - c.9dupA - P3H1_000037 The variant is incorrectly described as being in the LEPRE1 gene. PubMed: Caparros-Martin 2016 - - Germline - - - - - DNA PCR, SEQ - - OI No. 302 PubMed: Caparros-Martin 2016 - - - Egypt - - - - - 1 Raymond Dalgleish
+/+ 1 c.26T>C r.(?) p.Leu9Pro Unknown - pathogenic g.43232617A>G - - - P3H1_000041 P3H1 sequence variants are normally recessive. The single variant in this patient probably does not account alone for the OI phenotype. PubMed: Mohd Nawawi 2018 - - Germline - - - - - DNA SEQ-NG - custom gene panel OI OI 10 PubMed: Mohd Nawawi 2018 - - - Malaysia - - - - - 1 Raymond Dalgleish
+/+ 1 c.26T>C r.(?) p.Leu9Pro Unknown - pathogenic g.43232617A>G - - - P3H1_000041 P3H1 sequence variants are normally recessive. The single variant in this patient probably does not account alone for the OI phenotype. PubMed: Mohd Nawawi 2018 - - Germline - - - - - DNA SEQ-NG - custom gene panel OI OI 14 PubMed: Mohd Nawawi 2018 - - - Malaysia - - - - - 1 Raymond Dalgleish
-?/. - c.75G>C r.(?) p.(Glu25Asp) Unknown - likely benign g.43232568C>G g.42766897C>G P3H1(NM_022356.3):c.75G>C (p.E25D) - P3H1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.95_99delinsA r.(?) p.(Met32Lysfs*24) Unknown - pathogenic g.43232544_43232548delinsT - - - P3H1_000083 - PubMed: Pepin 2013 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - OI 31 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 1 c.105_120del r.(?) p.(Asp36Argfs*16) Paternal (confirmed) - pathogenic g.43232523_43232538del - - - P3H1_000035 - PubMed: Huang 2017 - - Germline - - - - - DNA SEQ-NG, PCR, SEQ - custom gene panel OI - PubMed: Huang 2017 - - - China - - - - - 1 Raymond Dalgleish
+/+ 1 c.138C>A r.(?) c.(Tyr46*) Both (homozygous) - pathogenic g.43232505G>T - - - P3H1_000061 - PubMed: Rauch 2014 - - Germline - - - - - DNA PCRm, SEQ - - OI - PubMed: Rauch 2014 - - - - - - - - - 1 Raymond Dalgleish
+/. - c.138C>A r.(?) p.(Tyr46Ter) Both (homozygous) - pathogenic g.43232505G>T g.42766834G>T - - P3H1_000061 - PubMed: Rauch 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel OI PatV15 PubMed: Rauch 2014 - - - Canada - - - - - 1 Johan den Dunnen
-/. - c.139G>T r.(?) p.(Ala47Ser) Unknown - benign g.43232504C>A g.42766833C>A P3H1(NM_022356.3):c.139G>T (p.A47S) - P3H1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.139G>T r.(?) p.(Ala47Ser) Parent #1 - benign g.43232504C>A g.42766833C>A - - P3H1_000089 251 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs55716016 Germline - 251/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 251 Mohammed Faruq
-/. - c.139G>T r.(?) p.(Ala47Ser) Both (homozygous) - benign g.43232504C>A g.42766833C>A - - P3H1_000089 7 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs55716016 Germline - 7/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
?/. - c.148G>A r.(?) p.(Asp50Asn) Unknown - VUS g.43232495C>T - P3H1(NM_001243246.1):c.148G>A (p.D50N) - P3H1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.232del r.(?) p.(Gln78Serfs*30) Both (homozygous) - pathogenic g.43232411del - c.232delC - P3H1_000005 - PubMed: Baldridge 2008 - - Germline - - - - - DNA PCR, SEQ - - OI Proband 4 PubMed: Baldridge 2008 - - - Ireland Irish Traveller - - - - 1 Peter Byers
+/+ 1 c.232del r.(?) p.(Gln78Serfs*30) Both (homozygous) - pathogenic g.43232411del - c.232delC - P3H1_000005 - PubMed: Baldridge 2008 - - Germline - - - - - DNA PCR, SEQ - - OI Proband 5 PubMed: Baldridge 2008 - - - Ireland Irish Traveller - - - - 1 Peter Byers
+/+ 1 c.232del r.(?) p.(Gln78Serfs*30) Both (homozygous) - pathogenic g.43232411del - c.232delC - P3H1_000005 - PubMed: Baldridge 2008 - - Germline - - - - - DNA PCR, SEQ - - OI Proband 6 PubMed: Baldridge 2008 - - - Ireland Irish Traveller - - - - 1 Peter Byers
+/+ 1 c.232del r.(?) p.(Gln78Serfs*30) Unknown - pathogenic g.43232411del - c.232delC - P3H1_000005 - PubMed: Pepin 2013 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - OI 30 PubMed: Pepin 2013 - - - - - - - - - 1 Peter Byers
+/+ 1 c.392C>A r.(?) p.(Ser131*) Both (homozygous) - pathogenic g.43232251G>T - - - P3H1_000006 - PubMed: Baldridge 2008 - - Germline - - - - - DNA PCR, SEQ - - OI Proband 7 PubMed: Baldridge 2008 This patient was subsequently presented as patient 1 by {PMID24498616:Pepin et al., 2013}. - - United States Native American - - - - 1 Peter Byers
+/+ 1 c.401_402del r.(?) p.(Glu134Glyfs*41) Both (homozygous) - pathogenic g.43232241_43232242del - - - P3H1_000076 - PubMed: van Dijk 2010 - - Germline - - - - - DNA PCR, SEQ - - OI VI:1 & VI:3 PubMed: van Dijk 2010 - - yes Turkey - - - - - 1 Raymond Dalgleish
+/+ 1 c.428G>C r.(?) p.(Arg143Pro) Unknown - pathogenic g.43232215C>G - - - P3H1_000040 Variant details were supplied by the author. It is not clear if the patient is homozygous for the variant, or is heterozygous and harbours some other variant in addition. PubMed: Popkov, 2018 - - Germline - - - - - DNA SEQ-NG - custom exome panel OI - PubMed: Popkov, 2018 - - - - - - - - - 1 Raymond Dalgleish
+/+ 1 c.439_441del r.(?) p.(Asn147del) Both (homozygous) - pathogenic g.43232202_43232204del - - - P3H1_000077 - PubMed: Pepin 2013 - - Germline - - - - - DNA SEQ - - OI 2 PubMed: Pepin 2013 - - - Somalia - - - - - 1 Peter Byers
?/. - c.446T>G r.(?) p.(Leu149Arg) Both (homozygous) - VUS g.43232197A>C g.42766526A>C - - P3H1_000147 ACMG PVS1, PM2, PP3, PP1 PubMed: Tuysuz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat91 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
?/. - c.446T>G r.(?) p.(Leu149Arg) Both (homozygous) - VUS g.43232197A>C g.42766526A>C - - P3H1_000147 ACMG PVS1, PM2, PP3, PP5. PP1 PubMed: Tuysuz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat92 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
?/. - c.446T>G r.(?) p.(Leu149Arg) Both (homozygous) - VUS g.43232197A>C g.42766526A>C - - P3H1_000147 ACMG PVS1, PM2,PP3, PP5 PubMed: Tuysuz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat93 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
?/. - c.446T>G r.(?) p.(Leu149Arg) Both (homozygous) - VUS g.43232197A>C g.42766526A>C - - P3H1_000147 ACMG PS1, PM2, PM5, PP2, PP3,PP1 PubMed: Tuysuz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat94 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
?/. - c.446T>G r.(?) p.(Leu149Arg) Both (homozygous) - VUS g.43232197A>C g.42766526A>C - - P3H1_000147 ACMG PVS1, PM2, PP3 PubMed: Tuysuz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat96 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
?/. - c.446T>G r.(?) p.(Leu149Arg) Both (homozygous) - VUS g.43232197A>C g.42766526A>C - - P3H1_000147 ACMG PVS1, PM2, PP3 PubMed: Tuysuz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat97 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
?/. - c.446T>G r.(?) p.(Leu149Arg) Both (homozygous) - VUS g.43232197A>C g.42766526A>C - - P3H1_000147 ACMG PVS1, PM2, PP3 PubMed: Tuysuz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat98 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
?/. - c.446T>G r.(?) p.(Leu149Arg) Both (homozygous) - VUS g.43232197A>C g.42766526A>C - - P3H1_000147 ACMG PVS1, PM2, PP3 PubMed: Tuysuz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat99 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
-?/. - c.466-117G>A r.(=) p.(=) Unknown - likely benign g.43228263C>T - P3H1(NM_022356.3):c.466-117G>A - P3H1_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.484del r.(?) p.(Ala162Leufs*22) Paternal (confirmed) - pathogenic g.43228128del - - - P3H1_000078 - PubMed: Takagi 2012 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Takagi 2012 - - - - - - - - - 1 Raymond Dalgleish
+/. - c.570_571del r.(?) p.(Gly191Serfs*10) Both (homozygous) - pathogenic (recessive) g.43228041_43228042del g.42762370_42762371del NM_022356.3:c.570_571del:(p.Gly191Serfs*10) - P3H1_000079 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 17DG0807 PubMed: Maddirevula 2018 family M yes - Arab - - - - 1 LOVD
+/+ 2 c.570_571del r.(?) p.(Gly191Serfs*10) Both (homozygous) - pathogenic g.43228041_43228042del - - - P3H1_000079 - PubMed: Pepin 2013 - - Germline - - - - - DNA SEQ - - OI 3 PubMed: Pepin 2013 - - - - Arab - - - - 1 Peter Byers
-?/. - c.611C>A r.(?) p.(Pro204His) Unknown - likely benign g.43228001G>T g.42762330G>T LEPRE1(NM_001146289.1):c.611C>A (p.(Pro204His)), P3H1(NM_022356.3):c.611C>A (p.P204H) - P3H1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.611C>A r.(?) p.(Pro204His) Unknown - benign g.43228001G>T - LEPRE1(NM_001146289.1):c.611C>A (p.(Pro204His)), P3H1(NM_022356.3):c.611C>A (p.P204H) - P3H1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2i c.618+1G>A r.spl p.? Unknown - pathogenic g.43227993C>T - - - P3H1_000080 - PubMed: Pepin 2013 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - OI 32 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ - c.628C>T r.(?) p.(Arg210*) Both (homozygous) - pathogenic g.43225052G>A g.42759381G>A - - P3H1_000015 - PubMed: Demir 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 57-gene panel OI B31 PubMed: Demir 2021 analysis 43 OI patients M - Turkey - - - - - 1 Johan den Dunnen
+/+ 3 c.628C>T r.(?) p.(Arg210*) Both (homozygous) - pathogenic g.43225052G>A - - - P3H1_000015 - PubMed: Willaert 2008 - - Germline - - - - - DNA PCR, SEQ - - OI Proband 2-1 PubMed: Willaert 2008 The sister (Proband 2-2) of this male proband is also homozygous for the same mutation. - - Turkey - - - - - 1 Raymond Dalgleish
+/. - c.628C>T p.(?) p.(Arg210*) Both (homozygous) - pathogenic (recessive) g.43225052G>A g.42759381G>A - - P3H1_000015 - PubMed: Kalayci 2023 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - OI3 Pat9 PubMed: Kalayci 2023 - ? ? Turkey - 00y00m - - - 1 Kim Worring
+/. - c.628C>T r.(?) p.(Arg210*) Both (homozygous) - pathogenic (recessive) g.43225052G>A - - - P3H1_000015 - PubMed: Kalayci 2023 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - OI3 Pat10 PubMed: Kalayci 2023 - ? ? Turkey - 00y00m - - - 1 Kim Worring
-?/. - c.629G>A r.(?) p.(Arg210Gln) Unknown - likely benign g.43225051C>T g.42759380C>T LEPRE1(NM_001146289.1):c.629G>A (p.(Arg210Gln)) - P3H1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.635G>A r.(?) p.(Gly212Glu) Both (homozygous) - VUS g.43225045C>T g.42759374C>T - - P3H1_000146 ACMG PVS1, PM2, PP5 PubMed: Tuysuz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat95 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
?/. - c.635G>A r.(?) p.(Gly212Glu) Both (homozygous) - VUS g.43225045C>T g.42759374C>T - - P3H1_000146 ACMG PVS1, PM2, PP3 PubMed: Tuysuz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat100 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
?/. - c.635G>A r.(?) p.(Gly212Glu) Both (homozygous) - VUS g.43225045C>T g.42759374C>T - - P3H1_000146 ACMG PVS1, PM2, PP3 PubMed: Tuysuz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat101 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
?/. - c.640C>T r.(?) p.(Arg214*) Unknown - VUS g.43225040G>A g.42759369G>A - - P3H1_000084 - - - - Germline - - - - - DNA SEQ-NG - - ADPKD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.653A>C r.(?) p.(Glu218Ala) Unknown - likely benign g.43225027T>G - LEPRE1(NM_001146289.1):c.653A>C (p.(Glu218Ala)) - P3H1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.693G>A r.(?) p.(Ala231=) Unknown - likely benign g.43224987C>T g.42759316C>T P3H1(NM_022356.3):c.693G>A (p.A231=) - P3H1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.747del r.(?) p.(Tyr250Metfs*87) Paternal (confirmed) - pathogenic g.43224933del - c.747delC - P3H1_000003 - PubMed: Cabral 2007 - - Germline - - NlaIV- - - DNA PCR, SEQ - - OI Proband 4 PubMed: Cabral 2007 The patient has also been described as Proband 8 by PubMed: Chang et al., 2010. - - United States African-American;Virgin Islands (US) - - - - 1 Raymond Dalgleish
+/+ 3 c.765C>A r.(?) p.(Tyr255*) Unknown - pathogenic g.43224915G>T - - - P3H1_000009 - PubMed: Baldridge 2008 - - Germline - - - - - DNA PCR, SEQ - - OI Proband 15 PubMed: Baldridge 2008 This patient was subsequently presented as patient 33 by {PMID24498616:Pepin et al., 2013} though the Proband number is mis-identified as 5, rather than as 15. - - United States African-American - - - - 1 Peter Byers
+/+ 3 c.765C>A r.(?) p.(Tyr255*) Unknown - pathogenic g.43224915G>T - - - P3H1_000009 - PubMed: Pepin 2013 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - OI 34 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
-?/. - c.808+7G>A r.(=) p.(=) Unknown - likely benign g.43224865C>T - P3H1(NM_022356.4):c.808+7G>A - P3H1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.808+7_808+8delinsAT r.(=) p.(=) Unknown - likely benign g.43224864_43224865delinsAT - P3H1(NM_022356.4):c.808+7_808+8delinsAT - P3H1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.838C>T r.(?) p.(Gln280*) Unknown - pathogenic g.43224625G>A - - - P3H1_000081 The sequence variants are not presented by the authors in the paper, but were provided by the diagnostic laboratory. This patient was subsequently presented as patient 35 by {PMID24498616:Pepin et al., 2013}. PubMed: Moul 2013 - - Germline - - - - - DNA SEQ - - OI - PubMed: Moul 2013 - - - - African-Colombian;African-American - - - - 1 Raymond Dalgleish
+?/+ 4 c.879_880del r.(?) p.(Lys294Alafs*3) Both (homozygous) - likely pathogenic g.43224583_43224584del - - - P3H1_000051 - PubMed: Mrosk 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES OI P59 PubMed: Mrosk 2018 - - - India - - - - - 1 Raymond Dalgleish
+/+ 4 c.927del r.(?) p.(Phe309Leufs*28) Both (homozygous) - pathogenic g.43224536del - c.927delT - P3H1_000082 - PubMed: Caparrós-Martin 2013 - - Germline - - - - - DNA SEQ - - BRKS Fam2Pat2 PubMed: Caparrós-Martin 2013 younger sister (AN_002112) also harbours the same variants. - - Spain - - - - - 1 Victor L Ruiz-Perez
+/+ 4 c.933C>G r.(?) p.(Tyr311*) Both (homozygous) - pathogenic g.43224530G>C - - - P3H1_000007 - PubMed: Baldridge 2008 - - Germline - - - - - DNA PCR, SEQ - - OI Proband 8 PubMed: Baldridge 2008 - - - - Arab - - - - 1 Peter Byers
-?/. - c.940+19C>G r.(=) p.(=) Unknown - likely benign g.43224504G>C - P3H1(NM_022356.3):c.940+19C>G - P3H1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.971C>T r.(?) p.(Ala324Val) Unknown - VUS g.43223563G>A - P3H1(NM_022356.4):c.971C>T (p.(Ala324Val)) - P3H1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.978C>T r.(?) p.(=) Unknown - benign g.43223556G>A - P3H1(NM_022356.4):c.978C>T (p.(Thr326=)) - P3H1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1026C>T r.(?) p.(Ala342=) Unknown - benign g.43223508G>A g.42757837G>A P3H1(NM_022356.3):c.1026C>T (p.A342=), P3H1(NM_022356.4):c.1026C>T (p.(Ala342=)) - P3H1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1026C>T r.(?) p.(Ala342=) Unknown - likely benign g.43223508G>A - P3H1(NM_022356.3):c.1026C>T (p.A342=), P3H1(NM_022356.4):c.1026C>T (p.(Ala342=)) - P3H1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.1026del r.(?) p.(Tyr343Ilefs*56) Unknown - pathogenic g.43223508del - - - P3H1_000049 - PubMed: Mrosk 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES OI P43 PubMed: Mrosk 2018 - - - India - - - - - 1 Raymond Dalgleish
-/. - c.1045G>A r.(?) p.(Gly349Arg) Unknown - benign g.43223489C>T g.42757818C>T P3H1(NM_022356.3):c.1045G>A (p.G349R) - P3H1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/-? 5 c.1045G>A r.(?) p.(Gly349Arg) Unknown - likely pathogenic g.43223489C>T - - - P3H1_000025 It is improbable that this is the disease-causing variant as this variant is too frequent in most populations to be associated with OI. - - rs6700677 Germline - - - - - DNA PCR, SEQ - - OI - - - - - - - - - - - 1 Yanqin Lu
+/. - c.1051G>T r.(?) p.Glu351* Unknown - pathogenic g.43223483C>A - - - P3H1_000127 - PubMed: Nadyrshina 2022 - - De novo - - - - - DNA SEQ-NG whole venous blood - OI13 Pat39 PubMed: Nadyrshina 2022 - M yes Russia Bashkir ethnicy >24y - - - 1 Kim Worring
?/. - c.1072C>A r.(?) p.(Pro358Thr) Unknown - VUS g.43223462G>T - P3H1(NM_022356.4):c.1072C>A (p.(Pro358Thr)) - P3H1_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Cabral 2007 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Proband 1 PubMed: Cabral 2007 - - - Ghana - - - - - 1 Raymond Dalgleish
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Cabral 2007 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Proband 2 PubMed: Cabral 2007 The probands sibling (2-2, terminated at 19 weeks) is described as Proband 7 by PubMed: Chang et al., 2010. - - United States African-American - - - - 1 Raymond Dalgleish
+/+ 5i c.1080+1G>T r.spl p.? Maternal (confirmed) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Cabral 2007 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Proband 3 PubMed: Cabral 2007 - - - Nigeria - - - - - 1 Raymond Dalgleish
+/+ 5i c.1080+1G>T r.spl p.? Maternal (confirmed) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Cabral 2007 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Proband 4 PubMed: Cabral 2007 The patient has also been described as Proband 8 by PubMed: Chang et al., 2010. - - United States African-American;Virgin Islands (US) - - - - 1 Raymond Dalgleish
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Baldridge 2008 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Proband 11 PubMed: Baldridge 2008 This patient was subsequently presented as patient 5 by {PMID24498616:Pepin et al., 2013}. - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Baldridge 2008 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Proband 12 PubMed: Baldridge 2008 This patient was subsequently presented as patient 6 by {PMID24498616:Pepin et al., 2013}. - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Baldridge 2008 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Proband 13 PubMed: Baldridge 2008 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Baldridge 2008 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Proband 14 PubMed: Baldridge 2008 This patient was subsequently presented as patient 13 by {PMID24498616:Pepin et al., 2013}. - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Unknown - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Baldridge 2008 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Proband 15 PubMed: Baldridge 2008 This patient was subsequently presented as patient 33 by {PMID24498616:Pepin et al., 2013} though the Proband number is mis-identified as 5, rather than as 15. - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Bodian 2009 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI D1 PubMed: Bodian 2009 - - - United States African-American? - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Bodian 2009 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI D3 PubMed: Bodian 2009 - - - United States African-American? - - - - 1 Peter Byers
+/? 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pyott 2011 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Family 46 PubMed: Pyott 2011 - - - - - - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Unknown - pathogenic g.43223453C>A - - - P3H1_000001 The sequence variants are not presented by the authors in the paper, but were provided by the diagnostic laboratory. This patient was subsequently presented as patient 35 by {PMID24498616:Pepin et al., 2013}. PubMed: Moul 2013 - - Germline - - BslI+ - - DNA SEQ - - OI - PubMed: Moul 2013 - - - - African-Colombian;African-American - - - - 1 Raymond Dalgleish
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 4 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 7 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 8 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Raymond Dalgleish
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 9 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 10 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 11 PubMed: Pepin 2013 - - - Haiti African - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 12 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 14 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 15 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Unknown - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 31 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Unknown - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 32 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Unknown - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 34 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Unknown - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 36 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Unknown - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 37 PubMed: Pepin 2013 - - - - - - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Unknown - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 38 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Unknown - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 39 PubMed: Pepin 2013 - - - - Asian Indian - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Unknown - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 40 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Unknown - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Pepin 2013 - - Germline - - BslI+ - - DNA, RNA PCR, RT-PCR, SEQ - - OI 41 PubMed: Pepin 2013 - - - United States African-American - - - - 1 Peter Byers
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Rauch 2014 - - Germline - - BslI+ - - DNA PCRm, SEQ - - OI - PubMed: Rauch 2014 - - - - - - - - - 1 Raymond Dalgleish
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Barbirato 2015 - - Germline - - BslI+ - - DNA PCR, SEQ, SSCA - - OI P1 PubMed: Barbirato 2015 The proband is the son of cousin parents whose DNA was not available for testing. - - - - - - - - 1 Raymond Dalgleish
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Fratzl-Zelman 2016 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Proband 4 PubMed: Fratzl-Zelman 2016 - - - United States African-American - - - - 1 Raymond Dalgleish
+/+ 5i c.1080+1G>T r.spl p.? Both (homozygous) - pathogenic g.43223453C>A - - - P3H1_000001 - PubMed: Fratzl-Zelman 2016 - - Germline - - BslI+ - - DNA PCR, SEQ - - OI Proband 5 PubMed: Fratzl-Zelman 2016 - - - Ghana - - - - - 1 Raymond Dalgleish
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