Full data view for gene IFITM5


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

103 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     

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
+?/. - c.-9C>A r.(=) p.(=) Unknown - likely pathogenic g.299499G>T - - - IFITM5_000010 - PubMed: Wu 2020 - - De novo - - - - - DNA SEQ-NG - whole-exome next-generation sequencing (NGS) OI5 patient PubMed: Wu 2020 - F no China - >00y - - - 1 Kim Worring
+/-? 1 c.-1dup r.(=) p.(=) Unknown - likely benign g.299493dup g.299493dup c.-1_0insC - IFITM5_000003 There is no evidence that the variant alters RNA splicing, RNA folding, or translation initiation. PubMed: Nawawi et al., 2019 - - Germline - - - - - DNA SEQ - - OI OI 26 PubMed: Nawawi 2019 - - - Malaysia - - - - - 1 Raymond Dalgleish
-?/. - c.20G>A r.(?) p.(Arg7His) Unknown - likely benign g.299471C>T - IFITM5(NM_001025295.3):c.20G>A (p.(Arg7His)) - ATHL1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.34G>T r.(?) p.(Ala12Ser) Unknown - likely benign g.299457C>A - IFITM5(NM_001025295.2):c.34G>T (p.(Ala12Ser)) - IFITM5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.42G>A r.(?) p.(Thr14=) Unknown - likely benign g.299449C>T g.299449C>T IFITM5(NM_001025295.3):c.42G>A (p.T14=) - IFITM5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.55G>A r.(?) p.(Gly19Ser) Unknown - likely benign g.299436C>T - IFITM5(NM_001025295.2):c.55G>A (p.(Gly19Ser)) - ATHL1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.70dup r.(?) p.(Leu24Profs*48) Unknown - VUS g.299423dup - IFITM5(NM_001025295.2):c.70dupC (p.(Leu24fs)) - ATHL1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.80G>C r.(?) p.(Gly27Ala) Unknown - benign g.299411C>G g.299411C>G IFITM5(NM_001025295.3):c.80G>C (p.G27A) - IFITM5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.80G>C r.(?) p.(Gly27Ala) Unknown - benign g.299411C>G g.299411C>G IFITM5(NM_001025295.3):c.80G>C (p.G27A) - IFITM5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.93_95del r.(?) p.(Pro33del) Unknown - VUS g.299399_299401del - IFITM5(NM_001025295.3):c.93_95delCCC (p.P33del) - ATHL1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.119C>T r.(?) p.(Ser40Leu) Unknown - pathogenic g.299372G>A g.299372G>A IFITM5(NM_001025295.3):c.119C>T (p.S40L) - IFITM5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.119C>T r.(?) p.(Ser40Leu) Parent #1 - pathogenic (dominant) g.299372G>A g.299372G>A - - IFITM5_000002 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam85 PubMed: Liu 2017 analysis 101 unrelated OI families F - China - - - - - 1 Johan den Dunnen
+/+ 1 c.119C>T r.(?) p.(Ser40Leu) Unknown - pathogenic g.299372G>A - - - IFITM5_000002 - PubMed: Guillén-Navarro 2014 - - De novo - - - - - DNA SEQ - - OI - PubMed: Guillén-Navarro 2014 This is Patient 1 as described in the paper - - Spain - - - - - 1 Victor L Ruiz-Perez
+/+ 1 c.119C>T r.(?) p.(Ser40Leu) Unknown - pathogenic g.299372G>A - - - IFITM5_000002 - PubMed: Hoyer-Kuhn 2014 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Hoyer-Kuhn 2014 The OI phenotype is described by the authors as severe. - - - - - - - - 1 Raymond Dalgleish
+/+ 1 c.119C>T r.(?) p.(Ser40Leu) Unknown - pathogenic g.299372G>A - - - IFITM5_000002 - PubMed: Farber 2014 - - De novo - - - - - DNA SEQ-NG, SEQ - exome OI - PubMed: Farber 2014 - - - - - - - - - 1 Raymond Dalgleish
+/+ 1 c.119C>T r.(?) p.(Ser40Leu) Unknown - pathogenic g.299372G>A - - - IFITM5_000002 - PubMed: He 2017 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG - WES OI - PubMed: He 2017 The pregnancy was terminated at 20 weeks due to poor prognosis. - - China - - - - - 1 Raymond Dalgleish
+/+ 1 c.119C>T r.(?) p.(Ser40Leu) Unknown - pathogenic g.299372G>A - - - IFITM5_000002 - PubMed: Chandler 2018 - - Germline - - - - - DNA SEQ-NG, PCR, SEQ - custom exome panel OI Case 9 PubMed: Chandler 2018 - - - - - - - - - 1 Raymond Dalgleish
+/+ 1 c.119C>T r.(?) p.(Ser40Leu) Unknown - pathogenic g.299372G>A - - - IFITM5_000002 - PubMed: Rodriguez Celin 2018 - - Germline - - - - - DNA SEQ-NG, SEQ - custom gene panel OI - PubMed: Rodriguez Celin 2018 The proband is described as having severe OI. - - Argentina - - - - - 1 Raymond Dalgleish
+/+ 1 c.119C>T r.(?) p.(Ser40Leu) Maternal (confirmed) - pathogenic g.299372G>A - - - IFITM5_000002 - PubMed: Lim 2019 - - Germline - - - - - DNA SEQ-NG - custom gene panel OI - PubMed: Lim 2019 The probands mother is mosaic for the sequence variant. A second pregnancy was terminated because of multiple prenatal fractures. - - - - - - - - 1 Raymond Dalgleish
+/. - c.119C>T r.(?) p.(Ser40Leu) Unknown - pathogenic g.299372G>A - - - IFITM5_000002 - - - rs786201032 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.119C>T r.(?) p.(Ser40Leu) Unknown - pathogenic g.299372G>A - IFITM5(NM_001025295.3):c.119C>T (p.S40L) - IFITM5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.120G>T r.(?) p.(Ser40=) Unknown - benign g.299371C>A - IFITM5(NM_001025295.3):c.120G>T (p.S40=) - ATHL1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.157G>A r.(?) p.(Gly53Ser) Unknown - VUS g.299334C>T - IFITM5(NM_001025295.3):c.157G>A (p.(Gly53Ser)) - ATHL1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.186+5G>A r.spl? p.? Unknown - VUS g.299300C>T - IFITM5(NM_001025295.3):c.186+5G>A - ATHL1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.186+14C>T r.(=) p.(=) Unknown - likely benign g.299291G>A - IFITM5(NM_001025295.3):c.186+14C>T - ATHL1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.186+19G>A r.(=) p.(=) Unknown - benign g.299286C>T g.299286C>T IFITM5(NM_001025295.3):c.186+19G>A - IFITM5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.190C>T r.(?) p.(Arg64*) Unknown - VUS g.298710G>A - IFITM5(NM_001025295.2):c.190C>T (p.R64*) - IFITM5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.220G>A r.(?) p.(Ala74Thr) Unknown - VUS g.298680C>T g.298680C>T IFITM5(NM_001025295.2):c.220G>A (p.(Ala74Thr)) - IFITM5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.278C>T r.(?) p.(Thr93Met) Unknown - likely benign g.298622G>A - IFITM5(NM_001025295.3):c.278C>T (p.T93M) - ATHL1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.287_307dup r.(?) p.(Pro96_Gly102dup) Unknown - VUS g.298595_298615dup - IFITM5(NM_001025295.2):c.287_307dupCGCCACTGCTGCTCCTGGGGC (p.(Pro96_Gly102dup)) - ATHL1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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