Full data view for gene RTN4IP1

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A database from the MITOchondrial DYNamics variation portal "Mitodyn.org".
 
Information The variants shown are described using the NM_032730.4 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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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.-936_*32845del r.0? p.0? Maternal (confirmed) - pathogenic (recessive) g.106987026_107077832del - hg19 chr6:106,987,026–107,077,832 - RTN4IP1_000016 - PubMed: Rajabian 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: D'Gama 2021 - M no ? (unknown) - - - - - 1 Aude Rocatcher
-/. - c.-701G>A r.(?) p.(=) Unknown - benign g.107077597C>T g.106629722C>T - - QRSL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.129G>A r.(?) p.(Met43Ile) Unknown - pathogenic (recessive) g.107076768C>T - - - RTN4IP1_000006 - PubMed: Charif 2018 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - neuropathy, optic Family 6 PubMed: Charif 2018 - F no Mauritius Mauritius father of Irish/Pakistani descent; mother of Indian descent - - - - 1 Aude Rocatcher
+/. - c.152A>G r.(?) p.(Tyr51Cys) Unknown - pathogenic (recessive) g.107076745T>C - - - RTN4IP1_000007 - PubMed: Charif 2018 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - neuropathy, optic Family 6 PubMed: Charif 2018 - F no Mauritius Mauritius father of Irish/Pakistani descent; mother of Indian descent - - - - 1 Aude Rocatcher
+/. - c.263T>G r.(?) p.(Val88Gly) Paternal (confirmed) - pathogenic (recessive) g.107076634A>C - - - RTN4IP1_000015 - PubMed: D'Gama 2021 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: D'Gama 2021 - M no ? (unknown) - - - - - 1 Aude Rocatcher
+/. 2 c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - 0 - DNA arraySNP, SEQ - - ? 26593267-Fam1PatII3 PubMed: Angebault 2015, Journal: Angebault 2015 2-generation family, affected sister/brother, unaffected heterozygous carrier parents, PatII3 F yes Morocco - >41y 0 - - 2 Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - 0 - DNA arraySNP, SEQ - - ? 26593267-Fam1PatII4 PubMed: Angebault 2015, Journal: Angebault 2015 brother PatII4 M yes Morocco - >52y 0 - - 1 Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - 0 - DNA SEQ - - ? 26593267Fam2PatII1 PubMed: Angebault 2015, Journal: Angebault 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - (not applicable) Roma >25y 0 - - 1 Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - 0 - DNA SEQ - - ? 26593267-Fam3PatII5 PubMed: Angebault 2015, Journal: Angebault 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Roma >15y 0 - - 1 Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) Paternal (confirmed) - pathogenic g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - 0 - DNA SEQ - - ? 26593267-FamIVPatII2 PubMed: Angebault 2015, Journal: Angebault 2015 2-generation family, 2 sisters, unaffected heterozygous carrier parents, patII2 F no - - >14y 0 - - 2 Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) Paternal (confirmed) - pathogenic g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - 0 - DNA SEQ - - ? 26593267-FamIVPatII3 PubMed: Angebault 2015, Journal: Angebault 2015 PatII3 F no - - >12y 0 - - 1 Pieter Klap
+/. - c.308G>A r.(?) p.(Arg103His) Paternal (confirmed) - pathogenic (recessive) g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Okamoto 2017 - - Germline yes - - 0 - DNA SEQ-NG - - neuropathy, optic Patient I PubMed: Okamoto 2017 - M no Japan - - 0 - - 2 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Paternal (confirmed) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Okamoto 2017 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Patient II PubMed: Okamoto 2017 - M no Japan - - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Charif 2018 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1 PubMed: Charif 2018 - M yes France Romani - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Charif 2018 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 2-1 PubMed: Charif 2018 - F yes France Romani - - - - 2 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Charif 2018 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 2-2 PubMed: Charif 2018 - F yes France Romani - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Charif 2018 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 3 PubMed: Charif 2018 - M yes France Romani - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Charif 2018 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 4 PubMed: Charif 2018 - M yes France Romani - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Angebault 2015 PubMed: Meunier 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1, II-3 PubMed: Angebault 2015 PubMed: Meunier 2020 - F yes Morocco - - - - - 2 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Angebault 2015 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1, II-4 PubMed: Angebault 2015 - M yes Morocco - - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Angebault 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - neuropathy, optic Family II, II-1 PubMed: Angebault 2015 - M yes France Romani - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Angebault 2015 PubMed: Meunier 2020 - - Germline yes - - - - DNA SEQ - - neuropathy, optic Family III, II-5 / Family 2, II-5 PubMed: Angebault 2015 PubMed: Meunier 2020 - F yes France Romani - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Paternal (confirmed) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Angebault 2015 PubMed: Meunier 2020 - - Germline yes - - - - DNA SEQ - - neuropathy, optic Family 4, II-2 PubMed: Angebault 2015 PubMed: Meunier 2020 - F no ? (unknown) - - - - - 2 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Paternal (confirmed) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Angebault 2015 PubMed: Meunier 2020 - - Germline yes - - - - DNA SEQ - - neuropathy, optic Family 4, II-3 PubMed: Angebault 2015 PubMed: Meunier 2020 - F no ? (unknown) - - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Meunier 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 3, II-4 PubMed: Meunier 2020 - M yes France Romani - - - - 3 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Meunier 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 3, II-5 PubMed: Meunier 2020 - M yes France Romani - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Meunier 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 3, III-2 PubMed: Meunier 2020 - F yes France Romani - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Giacomini 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: Giacomini 2020 - M no Italy - - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Unknown - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - PubMed: Li 2020 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: Li 2020 - ? - China - - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - Angers (under submission) - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic - Angers (under submission) - F yes France - - - - - 3 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - Angers (under submission) - - Germline yes - - 0 - DNA SEQ-NG - - neuropathy, optic - Angers (under submission) - M yes France - - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T - - - RTN4IP1_000001 - Angers (under submission) - - Germline yes - - 0 - DNA SEQ-NG - - neuropathy, optic - Angers (under submission) - F yes France - - - - - 1 Aude Rocatcher
+?/. - c.313C>T r.(?) p.(Pro105Ser) Both (homozygous) - likely pathogenic (recessive) g.107070806G>A - - - RTN4IP1_000009 - PubMed: Charif 2018 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - neuropathy, optic Family 7 PubMed: Charif 2018 Ophthalmological examination not performed M yes Pakistan - - 0 - - 1 Aude Rocatcher
+/. - c.314C>A r.(?) p.(Pro105His) Both (homozygous) - pathogenic (recessive) g.107070805G>T - - - RTN4IP1_000013 - PubMed: Charif 2018 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - neuropathy, optic Family 10 PubMed: Charif 2018 - M no Italy - <05y - - - 1 Aude Rocatcher
?/. - c.340G>A r.(?) p.(Glu114Lys) Both (homozygous) - VUS g.107070779C>T - - - RTN4IP1_000023 - Angers (under submission) - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - neuropathy, optic - Angers (under submission) - F no France - - - - - 1 Aude Rocatcher
+?/. - c.340G>T r.(?) p.(Glu114*) Paternal (confirmed) - VUS g.107070779C>A - - - RTN4IP1_000024 - Angers (under submission) - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic - Angers (under submission) - M no ? (unknown) - - - - - 1 Aude Rocatcher
+?/. - c.401T>G r.(?) p.(Val134Gly) Maternal (confirmed) - VUS g.107070718A>C - - - RTN4IP1_000022 - Angers (under submission) - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic - Angers (under submission) - M no France - - - - - 1 Aude Rocatcher
?/. - c.426+5G>T r.spl? p.? Paternal (confirmed) - VUS g.107070688C>A - - - RTN4IP1_000021 - Angers (under submission) - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic - Angers (under submission) - M no France - - - - - 1 Aude Rocatcher
-/. - c.426+16C>T r.(=) p.(=) Unknown - benign g.107070677G>A g.106622802G>A RTN4IP1(NM_032730.5):c.426+16C>T - QRSL1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.432G>A r.(?) p.(Trp144*) Paternal (confirmed) - pathogenic (recessive) g.107069363C>T - - - RTN4IP1_000011 - PubMed: Charif 2018 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 9 PubMed: Charif 2018 - M no Italy - - 0 - - 1 Aude Rocatcher
+/. - c.432G>A r.(?) p.(Trp144*) Paternal (confirmed) - pathogenic (recessive) g.107069363C>T - - - RTN4IP1_000011 - PubMed: Rajabian 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: Rajabian 2020 - F no Italy - - - - - 1 Aude Rocatcher
+/. - c.500C>T r.(?) p.(Ser167Phe) Maternal (confirmed) - pathogenic (recessive) g.107067197G>A - - - RTN4IP1_000014 - PubMed: Charif 2018 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 11 PubMed: Charif 2018 Ophthalmological examination not performed F no ? (unknown) - <01y 0 - - 1 Aude Rocatcher
+?/. - c.501_502del r.(?) p.(His168Glnfs*32) Paternal (inferred) - VUS g.107067195_107067196del - - - RTN4IP1_000020 - Angers (under submission) - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - neuropathy, optic - Angers (under submission) - M no France - - - - - 1 Aude Rocatcher
+/. 4 c.601A>T r.(?) p.(Lys201*) Maternal (confirmed) - pathogenic g.107067096T>A g.106619221T>A - - RTN4IP1_000002 - PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - 0 - DNA SEQ - - ? 26593267-FamIVPatII2 PubMed: Angebault 2015, Journal: Angebault 2015 2-generation family, 2 sisters, unaffected heterozygous carrier parents, patII2 F no - - >14y 0 - - 2 Pieter Klap
+/. 4 c.601A>T r.(?) p.(Lys201*) Maternal (confirmed) - pathogenic g.107067096T>A g.106619221T>A - - RTN4IP1_000002 - PubMed: Angebault 2015, Journal: Angebault 2015 - - Germline yes - - 0 - DNA SEQ - - ? 26593267-FamIVPatII3 PubMed: Angebault 2015, Journal: Angebault 2015 PatII3 F no - - >12y 0 - - 1 Pieter Klap
+/. - c.601A>T r.(?) p.(Lys201*) Maternal (confirmed) - pathogenic (recessive) g.107067096T>A - - - RTN4IP1_000002 - PubMed: Angebault 2015 PubMed: Meunier 2020 - - Germline yes - - - - DNA SEQ - - neuropathy, optic Family 4, II-2 PubMed: Angebault 2015 PubMed: Meunier 2020 - F no ? (unknown) - - - - - 2 Aude Rocatcher
+/. - c.601A>T r.(?) p.(Lys201*) Maternal (confirmed) - pathogenic (recessive) g.107067096T>A - - - RTN4IP1_000002 - PubMed: Angebault 2015 PubMed: Meunier 2020 - - Germline yes - - - - DNA SEQ - - neuropathy, optic Family 4, II-3 PubMed: Angebault 2015 PubMed: Meunier 2020 - F no ? (unknown) - - - - - 1 Aude Rocatcher
+/. - c.646G>A r.(?) p.(Gly216Arg) Maternal (confirmed) - pathogenic (recessive) g.107050772C>T - - - RTN4IP1_000005 - PubMed: Zou 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Proband II1 PubMed: Zou 2019 - F no China - - - - - 2 Aude Rocatcher
+/. - c.646G>A r.(?) p.(Gly216Arg) Maternal (confirmed) - pathogenic (recessive) g.107050772C>T - - - RTN4IP1_000005 - PubMed: Zou 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Proband II2 PubMed: Zou 2019 - M no China - - - - - 1 Aude Rocatcher
+/. - c.646G>A r.(?) p.(Gly216Arg) Maternal (confirmed) - pathogenic (recessive) g.107050772C>T - - - RTN4IP1_000005 - PubMed: Rajabian 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: Rajabian 2020 - F no Italy - - - - - 1 Aude Rocatcher
?/. - c.685G>T r.(?) p.(Asp229Tyr) Unknown - VUS g.107040160C>A - RTN4IP1(NM_032730.5):c.685G>T (p.D229Y) - QRSL1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.685G>T r.(?) p.(Asp229Tyr) Unknown - VUS g.107040160C>A - - - QRSL1_000009 - Angers (under submission) - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - neuropathy, optic - Angers (under submission) - F no France - - - - - 1 Aude Rocatcher
-?/. - c.750C>T r.(?) p.(Asp250=) Unknown - likely benign g.107040095G>A g.106592220G>A RTN4IP1(NM_032730.5):c.750C>T (p.D250=) - QRSL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.806+1G>A r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.107040038C>T g.106592163C>T - - RTN4IP1_000003 - PubMed: Okamoto 2017 - - Germline yes - - 0 - DNA SEQ-NG - - neuropathy, optic Patient I PubMed: Okamoto 2017 - M no Japan - - 0 - - 2 Aude Rocatcher
+/. - c.806+1G>A r.spl? p.? Maternal (confirmed) - pathogenic (recessive) g.107040038C>T - - - RTN4IP1_000003 - PubMed: Okamoto 2017 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Patient II PubMed: Okamoto 2017 - M no Japan - - - - - 1 Aude Rocatcher
+/. - c.806+1G>A r.spl? p.? Maternal (confirmed) - pathogenic (recessive) g.107040038C>T - - - RTN4IP1_000003 - PubMed: Charif 2018 - - De novo yes - - - - DNA SEQ-NG - - neuropathy, optic Family 11 PubMed: Charif 2018 Ophthalmological examination not performed F no ? (unknown) - <01y 0 - - 1 Aude Rocatcher
+?/. - c.890A>G r.(?) p.(Tyr297Cys) Maternal (confirmed) - VUS g.107035654T>C - - - RTN4IP1_000019 - Angers (under submission) - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic - Angers (under submission) - M no France - - - - - 1 Aude Rocatcher
+/. - c.962G>A r.(?) p.(Gly321Glu) Maternal (confirmed) - pathogenic (recessive) g.107035582C>T - - - RTN4IP1_000012 - PubMed: Charif 2018 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 9 PubMed: Charif 2018 - M no Italy - - 0 - - 1 Aude Rocatcher
+?/. - c.962G>C r.(?) p.(Gly321Ala) Unknown - likely pathogenic (recessive) g.107035582C>G - - - RTN4IP1_000018 - PubMed: Li 2020 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: Li 2020 - ? ? China - - - - - 1 Aude Rocatcher
+/. - c.1015C>T r.(?) p.(Arg339Cys) Unknown - pathogenic (recessive) g.107031271G>A - - - RTN4IP1_000017 - PubMed: Li 2020 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: Li 2020 - ? ? China - - - - - 1 Aude Rocatcher
?/. - c.1015C>T r.(?) p.(Arg339Cys) Unknown - VUS g.107031271G>A - - - RTN4IP1_000017 - Angers (under submission) - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - neuropathy, optic - Angers (under submission) - M no New Caledonia - - - - - 1 Aude Rocatcher
-?/. - c.1031T>C r.(?) p.(Met344Thr) Unknown - likely benign g.107031255A>G g.106583380A>G RTN4IP1(NM_032730.5):c.1031T>C (p.M344T) - QRSL1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1067T>C r.(?) p.(Leu356Pro) Both (homozygous) - pathogenic (recessive) g.107031219A>G - - - RTN4IP1_000010 - PubMed: Charif 2018 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 8 PubMed: Charif 2018 - F yes Iran - - 0 - - 1 Aude Rocatcher
?/. - c.1073A>T r.(?) p.(Asp358Val) Unknown - VUS g.107031213T>A - RTN4IP1(NM_032730.5):c.1073A>T (p.D358V) - QRSL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1084A>T r.(?) p.(Ile362Phe) Both (homozygous) - pathogenic (recessive) g.107019978T>A - - - RTN4IP1_000008 - PubMed: Charif 2018 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - neuropathy, optic Family 5 PubMed: Charif 2018 - F yes France Maghrebian - - - - 1 Aude Rocatcher
+/. - c.1162C>T r.(?) p.(Arg388*) Paternal (confirmed) - pathogenic (recessive) g.107019900G>A - - - RTN4IP1_000004 - PubMed: Zou 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Proband II1 PubMed: Zou 2019 - F no China - - - - - 2 Aude Rocatcher
+/. - c.1162C>T r.(?) p.(Arg388*) Paternal (confirmed) - pathogenic (recessive) g.107019900G>A - - - RTN4IP1_000004 - PubMed: Zou 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Proband II2 PubMed: Zou 2019 - M no China - - - - - 1 Aude Rocatcher
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