Full data view for gene IFITM5


Osteogenesis Imperfecta Variant Database
Information The variants shown are described using the NM_001025295.2 transcript reference sequence.

70 entries on 1 page. Showing entries 1 - 70.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.-14C>T r.(?) p.(=) Unknown - pathogenic g.299504G>A g.299504G>A IFITM5(NM_001025295.3):c.-14C>T - IFITM5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-14C>T r.(?) p.(Met1ext-5) Unknown ACMG pathogenic (dominant) g.299504G>A g.299504G>A - - IFITM5_000001 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - - Germline - - - - - DNA SEQ - - OI - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F - Japan Japanese - - - - 1 Yousuke Higuchi
+/. 1 c.-14C>T r.(?) p.(Met1ext-5) Parent #1 - pathogenic (dominant) g.299504G>A g.299504G>A - - IFITM5_000001 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam77 PubMed: Liu 2017 analysis 101 unrelated OI families F - China - - - - - 1 Johan den Dunnen
+/. 1 c.-14C>T r.(?) p.(Met1ext-5) Parent #1 - pathogenic (dominant) g.299504G>A g.299504G>A - - IFITM5_000001 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam78 PubMed: Liu 2017 analysis 101 unrelated OI families F - China - - - - - 1 Johan den Dunnen
+/. 1 c.-14C>T r.(?) p.(Met1ext-5) Parent #1 - pathogenic (dominant) g.299504G>A g.299504G>A - - IFITM5_000001 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam79 PubMed: Liu 2017 analysis 101 unrelated OI families F - China - - - - - 1 Johan den Dunnen
+/. 1 c.-14C>T r.(?) p.(Met1ext-5) Parent #1 - pathogenic (dominant) g.299504G>A g.299504G>A - - IFITM5_000001 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam80 PubMed: Liu 2017 analysis 101 unrelated OI families M - China - - - - - 1 Johan den Dunnen
+/. 1 c.-14C>T r.(?) p.(Met1ext-5) Parent #1 - pathogenic (dominant) g.299504G>A g.299504G>A - - IFITM5_000001 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam81 PubMed: Liu 2017 analysis 101 unrelated OI families F - China - - - - - 1 Johan den Dunnen
+/. 1 c.-14C>T r.(?) p.(Met1ext-5) Parent #1 - pathogenic (dominant) g.299504G>A g.299504G>A - - IFITM5_000001 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam82 PubMed: Liu 2017 analysis 101 unrelated OI families F - China - - - - - 1 Johan den Dunnen
+/. 1 c.-14C>T r.(?) p.(Met1ext-5) Parent #1 - pathogenic (dominant) g.299504G>A g.299504G>A - - IFITM5_000001 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam83 PubMed: Liu 2017 analysis 101 unrelated OI families M - China - - - - - 1 Johan den Dunnen
+/. 1 c.-14C>T r.(?) p.(Met1ext-5) Parent #1 - pathogenic (dominant) g.299504G>A g.299504G>A - - IFITM5_000001 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam84 PubMed: Liu 2017 analysis 101 unrelated OI families M - China - - - - - 1 Johan den Dunnen
+?/. - c.-14C>T r.(?) p.? Unknown - likely pathogenic g.299504G>A g.299504G>A - - IFITM5_000001 - PubMed: Demir 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 57-gene panel OI B34 PubMed: Demir 2021 analysis 43 OI patients M - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.-14C>T r.(?) p.? Unknown - likely pathogenic g.299504G>A g.299504G>A - - IFITM5_000001 - PubMed: Demir 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - 57-gene panel OI B35 PubMed: Demir 2021 analysis 43 OI patients M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.-14C>T r.(?) p.(=) Unknown - pathogenic (dominant) g.299504G>A g.299504G>A NM_001025295.2:c.-14C>T - IFITM5_000001 - PubMed: Maddirevula 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 13DG1119 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - 1 LOVD
+/. - c.-14C>T r.(?) p.(=) Unknown - pathogenic (dominant) g.299504G>A g.299504G>A NM_001025295.2:c.-14C>T - IFITM5_000001 - PubMed: Maddirevula 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 10DG2178 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - 1 LOVD
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Semler 2012 - - Germline - - - - - DNA PCR, SEQ - - OI Proband 1 PubMed: Semler 2012 - - - - - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Semler 2012 - - Germline - - - - - DNA PCR, SEQ - - OI Proband 2 PubMed: Semler 2012 - - - - - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Paternal (confirmed) - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Cho 2012 - - Germline - - - - - DNA PCR, SEQ - - OI Family 1 V:1 PubMed: Cho 2012 This patient was subsequently presented again as Patient 1 by {PMID23804581:Kim et al., 2013} and previously as case 12 by PubMed: Lee et al. 2006. - - Korea - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Paternal (confirmed) - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Cho 2012 - - Germline - - - - - DNA PCR, SEQ - - OI Family 2 III:1 PubMed: Cho 2012 This patient was subsequently presented again as Patient 4 by {PMID23804581:Kim et al., 2013} and previously as case 3 by PubMed: Lee et al. 2006. - - Korea - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Maternal (confirmed) - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Cho 2012 - - Germline - - - - - DNA PCR, SEQ - - OI Family 3 III:1 PubMed: Cho 2012 This patient was subsequently presented again as Patient 3 by {PMID23804581:Kim et al., 2013}. - - Korea - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Cho 2012 - - Germline - - - - - DNA PCR, SEQ - - OI Family 4 II:1 PubMed: Cho 2012 - - - Korea - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Cho 2012 - - Germline - - - - - DNA PCR, SEQ - - OI Family 5 II:1 PubMed: Cho 2012 - - - Korea - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Cho 2012 - - Germline - - - - - DNA PCR, SEQ - - OI Family 6 II:1 PubMed: Cho 2012 - - - Korea - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Cho 2012 - - Germline - - - - - DNA PCR, SEQ - - OI Family 7 II:1 PubMed: Cho 2012 - - - Korea - - - - - 1 Raymond Dalgleish
?/? 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - VUS g.299504G>A - - - IFITM5_000001 - PubMed: Cho 2012 - - Germline - - - - - DNA PCR, SEQ - - OI Family 8 II:1 PubMed: Cho 2012 - - - Korea - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Cho 2012 - - Germline - - - - - DNA PCR, SEQ - - OI Family 9 II:1 PubMed: Cho 2012 - - - Korea - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Balasubramanian 2013 - - Germline - - - - - DNA PCR, SEQ - - OI Patient 1 PubMed: Balasubramanian 2013 The patients daughter (Patient 2) also harbours the same variant. - - - Europe - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Balasubramanian 2013 - - Germline - - - - - DNA PCR, SEQ - - OI Patient 3 PubMed: Balasubramanian 2013 - - - - Europe - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Balasubramanian 2013 - - Germline - - - - - DNA PCR, SEQ - - OI Patient 4 PubMed: Balasubramanian 2013 - - - - Europe - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Grover 2013 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Grover 2013 This patient is the first described having the recurrent OI type V sequence variant but with a different OI type. - - - Hispanic - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Takagi 2013 - - Germline - - - - - DNA SEQ - - OI Patient 1 PubMed: Takagi 2013 - - - Japan - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Takagi 2013 - - Germline - - - - - DNA SEQ - - OI Patient 2 PubMed: Takagi 2013 - - - Japan - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Kim 2013 - - Germline - - - - - DNA SEQ - - OI Patient 5 PubMed: Kim 2013 Patient 9 is related to this patient and also harbours the same variant. - - Japan - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Kim 2013 - - Germline - - - - - DNA SEQ - - OI Patient 10 PubMed: Kim 2013 - - - Korea - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Kim 2013 - - Germline - - - - - DNA SEQ - - OI Patient 11 PubMed: Kim 2013 - - - Korea - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Kim 2013 - - Germline - - - - - DNA SEQ - - OI Patient 12 PubMed: Kim 2013 - - - Korea - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Kim 2013 - - Germline - - - - - DNA SEQ - - OI Patient 13 PubMed: Kim 2013 - - - Korea - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Kim 2013 - - Germline - - - - - DNA SEQ - - OI Patient 14 PubMed: Kim 2013 - - - Korea - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Kim 2013 - - Germline - - - - - DNA SEQ - - OI Patient 15 PubMed: Kim 2013 - - - Korea - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Kim 2013 - - Germline - - - - - DNA SEQ - - OI Patient 16 PubMed: Kim 2013 - - - Korea - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Zhang 2013 - - Germline - - - - - DNA PCR, SEQ - - OI F1-II1 PubMed: Zhang 2013 The probands mother also has OI V. - - China Han - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Zhang 2013 - - Germline - - - - - DNA PCR, SEQ - - OI F2 PubMed: Zhang 2013 - - - China Han - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Zhang 2013 - - Germline - - - - - DNA PCR, SEQ - - OI F3 PubMed: Zhang 2013 - - - China Han - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Zhang 2013 - - Germline - - - - - DNA PCR, SEQ - - OI F4 PubMed: Zhang 2013 - - - China Han - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Guillén-Navarro 2014 - - De novo - - - - - DNA SEQ - - OI - PubMed: Guillén-Navarro 2014 This is Patient 2 as described in the paper - - Lithuania - - - - - 1 Victor L Ruiz-Perez
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Rauch 2014 - - Germline - - - - - DNA PCRm, SEQ - - ? - PubMed: Rauch 2014 - - - - - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Lazarus 2014 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Lazarus 2014 - - - - - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Lazarus 2014 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Lazarus 2014 - - - - - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Lazarus 2014 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Lazarus 2014 - - - - - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Lazarus 2014 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Lazarus 2014 - - - - - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Lazarus 2014 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - OI - PubMed: Lazarus 2014 Presence of mRNA carrying the variant was shown by RT-PCR and sequencing of RNA from bone. - - - - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Lazarus 2014 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Lazarus 2014 - - - - - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Lazarus 2014 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Lazarus 2014 - - - - - - - - - 1 Raymond Dalgleish
+/+ 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Lazarus 2014 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Lazarus 2014 The patients son (individual 185.4) also harbours the same variant and has OI type V. - - - - - - - - 1 Raymond Dalgleish
+/? 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG - WES OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG - WES OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 1 c.-14C>T r.(?) p.(Met1ext-5) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/. - c.-14C>T r.(=) p.(=) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Whyte 2020 - - De novo - - - - - DNA SEQ-NG Periheral blood leukocytes - OI5 Pat1 PubMed: Whyte 2020 - M no United States - >29y - - - 1 Kim Worring
+/. - c.-14C>T r.(=) p.(=) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Whyte 2020 - - De novo - - - - - DNA SEQ-NG Peripheral blood leukocytes - OI5 Pat2 PubMed: Whyte 2020 - F ? United States - 51y - - - 1 Kim Worring
+/. 5′UTR c.-14C>T r.(=) p.M1TextM-5 Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Deng 2021 - - De novo - - - - - DNA ? blood - OI5 patient PubMed: Deng 2021 - M no China Han >14y - - pamidronate, zoledronate, vitamin A, vitamin D, calcium 1 Kim Worring
+/. - c.-14C>T r.(=) p.(=) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Nadyrshina 2022 - - De novo - - - - - DNA SEQ-NG whole venous blood - OI5 Pat41 PubMed: Nadyrshina 2022 - F ? Russia - >26y - - - 1 Kim Worring
+/. - c.-14C>T r.(=) p.(=) Unknown - pathogenic g.299504G>A - - - IFITM5_000001 - PubMed: Nadyrshina 2022 - - De novo - - - - - DNA SEQ-NG whole venous blood - OI5 Pat42 PubMed: Nadyrshina 2022 - M ? Russia - >10y - - - 1 Kim Worring
+/. - c.-14C>T r.(?) p.(=) Unknown - pathogenic g.299504G>A g.299504G>A - - IFITM5_000001 - PubMed: Nadyrshina 2022 - - De novo - - - - - DNA SEQ-NG whole venous blood - OI5 Pat40 PubMed: Nadyrshina 2022 - F ? Russia - >27y - - - 1 Kim Worring
+/. - c.-14C>T r.spl p.? Unknown - pathogenic g.299504G>A g.299504G>A - - IFITM5_000001 ACMG PM2, PP3, BP1 PubMed: Tuysuz 2022 VCV000037143.7 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat112 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.