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.

74 entries on 1 page. Showing entries 1 - 74.
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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.-701G>A r.(?) p.(=) Unknown - benign g.107077597C>T g.106629722C>T - - QRSL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_9_ c.-477_*968{0} r.0? p.0? Maternal (confirmed) - pathogenic (recessive) g.(?_106987026)_(107077832_?)del - hg19 chr6:106,987,026–107,077,832 - RTN4IP1_000016 CNV analysis from exome data identified a 90.8 kb maternal deletion (hg19 chr6:106,987,026–107,077,832) encompassing the entire gene, consistent with deletion of RTN4IP1 inherited from the mother. The deletion includes part of AIM1, which may be associated with human melanoma, and part of QRLS1, which is associated with an AR disorder, thus not likely disease-causing although could act as modifiers. PubMed: D'Gama 2021 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: D'Gama 2021 - M no - - - - - - 1 Aude Rocatcher
?/. - c.59G>A r.(?) p.(Trp20*) Unknown - VUS g.107076838C>T - RTN4IP1(NM_032730.5):c.59G>A (p.W20*) - QRSL1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.129G>A r.(?) p.(Met43Ile) Parent #1 - 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) Parent #2 - 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 - - - - - - 1 Aude Rocatcher
-?/. - c.275-11_275-10del r.(=) p.(=) Unknown - likely benign g.107070855_107070856del - RTN4IP1(NM_032730.5):c.275-11_275-10delGT - QRSL1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.307C>T r.(?) p.(Arg103Cys) Maternal (confirmed) - likely pathogenic (recessive) g.107070812G>A g.106622937G>A - - RTN4IP1_000027 - PubMed: Jurkute 2022 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: Jurkute 2022 - M no United Kingdom (Great Britain) - - - - - 1 Aude Rocatcher
+/. 2 c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015 PubMed: Meunier 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family I, II-3 PubMed: Angebault 2015 PubMed: Meunier 2020 Patient II-3 from Family I: 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Morocco - >45y - - - 2 Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family I, II-4 PubMed: Angebault 2015 Brother of Patient II4 M yes Morocco - >52y - - - 1 Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015 - - Germline/De novo (untested) ? - - - - DNA SEQ - - neuropathy, optic Family II, II-1 PubMed: Angebault 2015 Patient II-1 from Family II: 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes France Romani >25y - - - 1 Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) Both (homozygous) - pathogenic (recessive) g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015 PubMed: Meunier 2020 - - Germline yes - - - - DNA SEQ - - neuropathy, optic Family III, II-5 (2015) / Family 2, II-5 (2020) PubMed: Angebault 2015 PubMed: Meunier 2020 Patient named as Family III, II-5 in article by Angebault et al. (2015), and as Family 2, II-5 in article by Meunier et al. (2020): 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes France Romani >23y - - - 1 Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) Paternal (confirmed) - pathogenic (recessive) g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015 PubMed: Meunier 2020 - - Germline yes - - - - DNA SEQ - - neuropathy, optic Family IV, II-2 (2015) / Family 4, II-2 (2020) PubMed: Angebault 2015 PubMed: Meunier 2020 Patient named as Family IV, II-2 in article by Angebault et al. (2015), and as Family 4, II-2 in article by Meunier et al. (2020): 2-generation family, 2 sisters, unaffected heterozygous carrier parents F no - - >14y - - - 2 Pieter Klap
+/. 2 c.308G>A r.(?) p.(Arg103His) Paternal (confirmed) - pathogenic (recessive) g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015 PubMed: Meunier 2020 - - Germline yes - - - - DNA SEQ - - neuropathy, optic Family IV, II-3 (2015) / Family 4, II-3 (2020) PubMed: Angebault 2015 PubMed: Meunier 2020 Patient named as Family IV, II-3 in article by Angebault et al. (2015), and as Family 4, II-3 in article by Meunier et al. (2020) F no - - >12y - - - 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 - - - - DNA SEQ-NG - - neuropathy, optic Patient I PubMed: Okamoto 2017 - M no Japan - - - - - 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: 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) Parent #1 - pathogenic (recessive) g.107070811C>T - ND1 m.12338T>C+RTN4IP1 c.308G>A, Het - RTN4IP1_000001 Variant associated with a variant in mitochondrial DNA (MT-ND5:c.2T>C / m.12338T>C) 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 - - - - 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 - - - - DNA SEQ-NG - - neuropathy, optic - Angers (under submission) - F yes France - - - - - 1 Aude Rocatcher
+/. - c.308G>A r.(?) p.(Arg103His) Unknown - pathogenic g.107070811C>T - RTN4IP1(NM_032730.5):c.308G>A (p.R103H) - RTN4IP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - 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 - - - - - 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 - - - - - - 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 - - - - - 1 Aude Rocatcher
+/. - c.432G>A r.(?) p.(Trp144*) Paternal (confirmed) - pathogenic (recessive) g.107069363C>T - - - RTN4IP1_000011 - PubMed: Rajabian 2021 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: Rajabian 2021 - F no Italy - - - - - 1 Aude Rocatcher
+/. - c.475G>T r.(?) p.(Val159Phe) Both (homozygous) - pathogenic g.107069320C>A g.106621445C>A - - RTN4IP1_000026 - PubMed: Aldosary 2022 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Fam1PatII2(Pat1) PubMed: Aldosary 2022 family, 3 affected F yes Saudi Arabia - - - - - 3 Aude Rocatcher
+/. - c.475G>T r.(?) p.(Val159Phe) Both (homozygous) - pathogenic g.107069320C>A g.106621445C>A - - RTN4IP1_000026 - PubMed: Aldosary 2022 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Fam1PatII1(Pat2) PubMed: Aldosary 2022 - F yes Saudi Arabia - - - - - 1 Aude Rocatcher
+/. - c.475G>T r.(?) p.(Val159Phe) Both (homozygous) - pathogenic g.107069320C>A g.106621445C>A - - RTN4IP1_000026 - PubMed: Aldosary 2022 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic FamPatII4(Pat3) PubMed: Aldosary 2022 - M yes Saudi Arabia - - - - - 1 Aude Rocatcher
+/. - c.475G>T r.(?) p.(Val159Phe) Both (homozygous) - pathogenic g.107069320C>A g.106621445C>A - - RTN4IP1_000026 - PubMed: Aldosary 2022 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Fam2PatII1(Pat4) PubMed: Aldosary 2022 family, 3 affected M yes Saudi Arabia - - - - - 3 Aude Rocatcher
+/. - c.475G>T r.(?) p.(Val159Phe) Both (homozygous) - pathogenic g.107069320C>A g.106621445C>A - - RTN4IP1_000026 - PubMed: Aldosary 2022 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Fam2PatII2(Pat5) PubMed: Aldosary 2022 - F yes Saudi Arabia - - - - - 1 Aude Rocatcher
+/. - c.475G>T r.(?) p.(Val159Phe) Both (homozygous) - pathogenic g.107069320C>A g.106621445C>A - - RTN4IP1_000026 - PubMed: Aldosary 2022 - - Germline yes - - - - DNA SEQ-ON - - neuropathy, optic Fam2PatII3(Pat6) PubMed: Aldosary 2022 - M yes Saudi Arabia - - - - - 1 Aude Rocatcher
+?/. 3i_4i c.496-1040_621-7406del r.(?) p.(Val166Cysfs*35) Paternal (confirmed) - likely pathogenic (recessive) g.107058228_107068266del g.106610353_106620391del del ex4, g.106610328_106620366del - RTN4IP1_000028 - PubMed: Jurkute 2022 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: Jurkute 2022 - M no United Kingdom (Great Britain) - - - - - 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 - - <01y - - - 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
-?/. - c.591C>T r.(?) p.(Gly197=) Unknown - likely benign g.107067106G>A - RTN4IP1(NM_032730.5):c.591C>T (p.G197=) - QRSL1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.601A>T r.(?) p.(Lys201*) Maternal (confirmed) - pathogenic (recessive) g.107067096T>A g.106619221T>A - - RTN4IP1_000002 - PubMed: Angebault 2015 PubMed: Meunier 2020 - - Germline yes - - - - DNA SEQ - - neuropathy, optic Family IV, II-2 (2015) / Family 4, II-2 (2020) PubMed: Angebault 2015 PubMed: Meunier 2020 Patient named as Family IV, II-2 in article by Angebault et al. (2015), and as Family 4, II-2 in article by Meunier et al. (2020): 2-generation family, 2 sisters, unaffected heterozygous carrier parents F no - - >14y - - - 2 Pieter Klap
+/. 4 c.601A>T r.(?) p.(Lys201*) Maternal (confirmed) - pathogenic (recessive) g.107067096T>A g.106619221T>A - - RTN4IP1_000002 - PubMed: Angebault 2015 PubMed: Meunier 2020 - - Germline yes - - - - DNA SEQ - - neuropathy, optic Family IV, II-3 (2015) / Family 4, II-3 (2020) PubMed: Angebault 2015 PubMed: Meunier 2020 Patient named as Family IV, II-3 in article by Angebault et al. (2015), and as Family 4, II-3 in article by Meunier et al. (2020) F no - - >12y - - - 1 Pieter Klap
-?/. - c.621-20T>C r.(=) p.(=) Unknown - likely benign g.107050817A>G - RTN4IP1(NM_032730.5):c.621-20T>C - QRSL1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.637G>A r.(?) p.(Ala213Thr) Unknown ACMG VUS g.107050781C>T g.106602906C>T RTN4IP1 c.637G>A, p.(Ala213Thr) - RTN4IP1_000025 heterozygous, probably non-causal incidental finding PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 14_16 PubMed: Zhu 2022 family 14, individual 16 M - - - - - - - 1 LOVD
+/. - 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 2021 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: Rajabian 2021 - 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) Parent #1 - 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.804dup r.(?) p.(Pro269Thrfs*3) Unknown - likely pathogenic g.107040044dup - RTN4IP1(NM_032730.5):c.804dupA (p.P269Tfs*3) - QRSL1_000016 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 - - - - DNA SEQ-NG - - neuropathy, optic Patient I PubMed: Okamoto 2017 - M no Japan - - - - - 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.? Paternal (inferred) - 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 - - <01y - - - 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 - - - - - 1 Aude Rocatcher
+?/. - c.962G>C r.(?) p.(Gly321Ala) Parent #1 - 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) Parent #1 - VUS g.107031271G>A - ND4 m.11253T>C+RTN4IP1 c.1015C>T, Het - RTN4IP1_000017 Variant associated with a variant in mitochondrial DNA (MT-ND4:c.494T>C / m.11253T>C) 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) Parent #1 - 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 - - - - - 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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