ASpdb: an integrative knowledgebase of human protein isoforms from experimental and AI-predicted structures

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	Protein Summary
	AS Summary
	Protein Functional Features
	Gene Isoform Structures and Expression Levels
	Protein Structures
	pLDDT Score Distribution
	Ramachandran Plot of Protein Structures
	Potential Active Site Information
	Protein Structure and Feature Comparision
	Protein-Protein Interaction
	Related Drugs
	Related Diseases
	Clinically Important Variants

Protein:RTN4IP1

Protein Summary

Gene summary

Gene name: RTN4IP1
ASpdb.0 ID: 84816
	Gene
Gene symbol	RTN4IP1
Gene ID	84816
Gene name	reticulon 4 interacting protein 1
Synonyms	NIMP\|OPA10
Cytomap	6q21
Type of gene	protein-coding
Description	reticulon-4-interacting protein 1, mitochondrialNOGO-interacting mitochondrial protein
Modification date	20240403
UniProtAcc	Q8WWV3

Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Gene	RTN4IP1	GO:0005741	mitochondrial outer membrane	26593267

AS Summary

Information of the canonical protein with experimentally identified structure from PDB (2023).

UniProt Acc	File name	PDB ID	Method	Resolution	Chain	Start	End
Q8WWV3-1	Q8WWV3-1_2vn8_A.pdb	2VN8	X-ray	2.1	A	45	396

ASpdb's canonical and alternatively spliced isoform information.

accession_id

gene_name

canonical_id

alternative_id

canonical_length

alternative_length

canonical_start

canonical_end

type

originalSEQ

variationSEQ

alternative_start

alternative_end

Q8WWV3

RTN4IP1

Q8WWV3-1

Q8WWV3-2

396

296

100

Deletion

none

Q8WWV3

RTN4IP1

Q8WWV3-1

Q8WWV3-3

396

225

208

226

Substitution

VLILGASGGVGTFAIQVMK

ISGKESIIAGHFSWPVAH

208

225

Q8WWV3

RTN4IP1

Q8WWV3-1

Q8WWV3-3

396

225

227

396

Deletion

none

225

Multiple sequence alignment of our canonical and alternatively spliced RTN4IP1

Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of RTN4IP1

UniProt-id	ENSG	ENST	ENSP
Q8WWV3-1	ENSG00000130347.13	ENST00000369063.8	ENSP00000358059.3

UniProt-id	NM ID	NP ID
Q8WWV3-1	NM_032730.5	NP_116119.2
Q8WWV3-2	NM_001318746.1	NP_001305675.1

Amino acid sequences of our canonical and alternatively spliced RTN4IP1

accession_id	Protein sequence
Q8WWV3-1	MEFLKTCVLRRNACTAVCFWRSKVVQKPSVRRISTTSPRSTVMPAWVIDKYGKNEVLRFTQNMMMPIIHYPNEVIVKVHAASVNPIDVNM RSGYGATALNMKRDPLHVKIKGEEFPLTLGRDVSGVVMECGLDVKYFKPGDEVWAAVPPWKQGTLSEFVVVSGNEVSHKPKSLTHTQAAS LPYVALTAWSAINKVGGLNDKNCTGKRVLILGASGGVGTFAIQVMKAWDAHVTAVCSQDASELVRKLGADDVIDYKSGSVEEQLKSLKPF DFILDNVGGSTETWAPDFLKKWSGATYVTLVTPFLLNMDRLGIADGMLQTGVTVGSKALKHFWKGVHYRWAFFMASGPCLDDIAELVDAG
Q8WWV3-2	MKRDPLHVKIKGEEFPLTLGRDVSGVVMECGLDVKYFKPGDEVWAAVPPWKQGTLSEFVVVSGNEVSHKPKSLTHTQAASLPYVALTAWS AINKVGGLNDKNCTGKRVLILGASGGVGTFAIQVMKAWDAHVTAVCSQDASELVRKLGADDVIDYKSGSVEEQLKSLKPFDFILDNVGGS TETWAPDFLKKWSGATYVTLVTPFLLNMDRLGIADGMLQTGVTVGSKALKHFWKGVHYRWAFFMASGPCLDDIAELVDAGKIRPVIEQTF
Q8WWV3-3	MEFLKTCVLRRNACTAVCFWRSKVVQKPSVRRISTTSPRSTVMPAWVIDKYGKNEVLRFTQNMMMPIIHYPNEVIVKVHAASVNPIDVNM RSGYGATALNMKRDPLHVKIKGEEFPLTLGRDVSGVVMECGLDVKYFKPGDEVWAAVPPWKQGTLSEFVVVSGNEVSHKPKSLTHTQAAS

Protein Functional Features

Main function of this protein. (from UniProt)

RTN4IP1 (go to UniProt):Q8WWV3

Retention analysis result of protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at
download page
* Minus value of BPloci means that the break pointn is located before the CDS.

- Retained protein feature among the 13 regional features.

Accession_id

Subsection

Start

End

Funcitonal feature

Splicing information

Gene Isoform Structures and Expression Levels for RTN4IP1

Gene structures of our canonical and alternative spliced genes of RTN4IP1
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Expression levels of gene isoforms across GTEx.

Expression levels of gene isoforms across TCGA.

Protein Structures

PDB and CIF files of the predicted protein structures
* Here we show the 3D structure of the proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

3D view using mol* of Q8WWV3-1

3D view using mol* of Q8WWV3-2

3D view using mol* of Q8WWV3-3

pLDDT Score Distribution

pLDDT score distribution of the predicted protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

pLDDT distribution across the protein length of Q8WWV3-1

pLDDT distribution across the protein length of Q8WWV3-2

pLDDT distribution across the protein length of Q8WWV3-3

Ramachandran Plot of Protein Structures

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this protein peptide.

Ramachandran plot of Q8WWV3-1

Ramachandran plot of Q8WWV3-2

Potential Active Site Information

The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite.

UniProt-id	Site score	Size	D score	Volume	Exposure	Enclosure	Contact	Phobic	Philic	Balance	Don/Acc	Residues
Q8WWV3-1	1.05	254	1.077	808.108	0.509	0.748	0.956	0.941	0.958	0.982	0.403	83,84,85,86,89,94,98,99,101,102,148,149,150,183,18 4,187,211,212,214,215,216,217,218,235,236,237,255, 260,276,277,280,281,284,300,301,302,303,304,305,30 6,308,313,317,341,342,343,344,345,367,381,382,385, 386,387,388,389,390,391
Q8WWV3-2	1.039	381	1.067	900.032	0.493	0.731	0.97	1.032	0.956	1.08	0.488	19,20,21,22,23,24,25,26,27,28,29,30,31,34,37,43,44 ,45,47,51,52,53,54,55,56,57,58,59,60,61,62,63,64,6 6,75,76,79,80,111,112,114,115,116,117,135,136,137, 155,159,160,161,177,181,184,267,278,279,282,285,28 6,287,288,289,290,291,292,293,294,295,296
Q8WWV3-3	1.003	184	1.059	490.833	0.626	0.632	0.82	0.672	0.796	0.845	1.401	39,41,43,63,64,65,66,67,68,69,73,75,97,100,101,103 ,104,107,109,110,111,112,113,114,116,117,118,129,1 50,151,152,153,156,158,159,160

Protein Structure and Feature Comparision

Protein Structure Comparision Using Template Modeling Scores (TM-score).

Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green)

3D view using mol* of Q8WWV3-1_Q8WWV3-1_2vn8_A.pdb

Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green)

3D view using mol* of Q8WWV3-1_2vn8_A_Q8WWV3-2.pdb

3D view using mol* of Q8WWV3-1_2vn8_A_Q8WWV3-3.pdb

Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green)

3D view using mol* of Q8WWV3-1_Q8WWV3-2.pdb

3D view using mol* of Q8WWV3-1_Q8WWV3-3.pdb

Protein Feature Comparison of the protein sequendary structures among the protiens.

./stats/secondary_structure/figure/Q8WWV3-1_vs_Q8WWV3-2.png

./stats/secondary_structure/figure/Q8WWV3-1_vs_Q8WWV3-3.png

Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens.

./stats/relative_asa/Q8WWV3-1_vs_Q8WWV3-2.png

./stats/relative_asa/Q8WWV3-1_vs_Q8WWV3-3.png

Protein-Protein Interaction

Interactors from UniProt.

Accession_id

Subsection

Start

End

Funcitonal feature

Splicing information

Interactors from STRING.

Gene name

Interactors

Related Drugs to RTN4IP1

Drugs targeting this gene/protein.
(DrugBank)

UniProt accession

Gene name

DrugBank ID

Drug name

Drug group

Actions

Related Diseases to RTN4IP1

Previous studies relating to the alternative splicing of RTN4IP1 and disease information from the MeSH term (PubMed)

Gene

PMID

Title

Abstract

MeSH ID

MeSH term

Clinically important variants in RTN4IP1

(ClinVar, 04/20/2024)

accession_id	uniprot_id	gene_name	Type	Variant	Clinical_significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg103His	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg103His	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Lys201Ter	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Lys201Ter	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ser180Pro	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ser180Pro	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Met90Thr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Met90Thr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Asp229Tyr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Asp229Tyr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	Insertion	p.Arg39_Ser40insIle	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	Insertion	p.Arg39_Ser40insIle	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val244Ala	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val244Ala	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val365Ala	Likely benign
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val365Ala	Likely benign
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro44Thr	Benign
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro44Thr	Benign
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gly112Glu	Conflicting classifications of pathogenicity
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gly112Glu	Conflicting classifications of pathogenicity
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala249Thr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala249Thr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro44Ser	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro44Ser	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro105Ser	Likely pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro105Ser	Likely pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gly279Arg	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gly279Arg	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	Deletion	p.Gly196fs	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	Deletion	p.Gly196fs	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Asp133Glu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Asp133Glu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg103Cys	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg103Cys	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Met101Arg	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Met101Arg	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro85Leu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro85Leu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	Deletion	p.Thr36_Pro38del	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	Deletion	p.Thr36_Pro38del	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Thr6Ser	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Thr6Ser	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gly321Ala	Likely benign
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gly321Ala	Likely benign
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg245Gly	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg245Gly	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val88Gly	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val88Gly	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Met344Thr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Met344Thr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro139Ser	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro139Ser	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Trp46Ter	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Trp46Ter	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg339Cys	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg339Cys	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Tyr297Cys	Conflicting classifications of pathogenicity
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Tyr297Cys	Conflicting classifications of pathogenicity
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala213Thr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala213Thr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val184Met	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val184Met	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val78Gly	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val78Gly	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	Deletion	p.Cys18fs	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	Deletion	p.Cys18fs	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gly385Glu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gly385Glu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Met225Thr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Met225Thr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala16Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala16Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Glu2Ala	Conflicting classifications of pathogenicity
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Glu2Ala	Conflicting classifications of pathogenicity
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ile362Phe	Conflicting classifications of pathogenicity
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ile362Phe	Conflicting classifications of pathogenicity
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Phe288Leu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Phe288Leu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.His231Leu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.His231Leu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Lys77Ile	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Lys77Ile	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Glu129Asp	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Glu129Asp	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ile86Val	Likely benign
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ile86Val	Likely benign
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Phe372Leu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Phe372Leu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Asp352Asn	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Asp352Asn	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro269Leu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro269Leu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala234Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala234Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Thr233Ile	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Thr233Ile	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg31Thr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg31Thr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Trp20Ter	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Trp20Ter	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg388Ter	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg388Ter	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Glu261Lys	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Glu261Lys	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val126Leu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val126Leu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Lys374Glu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Lys374Glu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Cys349Arg	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Cys349Arg	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Met65Thr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Met65Thr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Glu114Ter	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Glu114Ter	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Asp358Val	Likely benign
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Asp358Val	Likely benign
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ser22Arg	Benign
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ser22Arg	Benign
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Met1Thr	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Met1Thr	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro170Ser	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro170Ser	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	Indel	p.Thr35_Arg39delinsArgArgIle	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	Indel	p.Thr35_Arg39delinsArgArgIle	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala240Gly	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala240Gly	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Asn89Ser	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Asn89Ser	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Met63Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Met63Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ile67Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ile67Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val126Met	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val126Met	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg207Cys	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg207Cys	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ser293Ter	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ser293Ter	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro38Ser	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro38Ser	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gln26Pro	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gln26Pro	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Lys111Arg	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Lys111Arg	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gly196Ala	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gly196Ala	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val108Met	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val108Met	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ile192Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ile192Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro170His	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro170His	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg339His	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg339His	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Glu2Asp	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Glu2Asp	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala345Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala345Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gly258Arg	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gly258Arg	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val195Ile	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val195Ile	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val301Leu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val301Leu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro38His	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro38His	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gln223His	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gln223His	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Asp351Ala	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Asp351Ala	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Leu119Pro	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Leu119Pro	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg363Gln	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg363Gln	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg32Lys	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg32Lys	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	Duplication	p.Pro269fs	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	Duplication	p.Pro269fs	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ile75Thr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ile75Thr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Met344Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Met344Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala240Thr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala240Thr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala359Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala359Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	Microsatellite	p.Leu119fs	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	Microsatellite	p.Leu119fs	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gln152Arg	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gln152Arg	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Thr36Asn	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Thr36Asn	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gly312Ser	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gly312Ser	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val324Ala	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val324Ala	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Asp49Gly	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Asp49Gly	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg363Trp	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg363Trp	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg121Gln	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg121Gln	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Phe342Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Phe342Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Leu274Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Leu274Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gly216Arg	Likely pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gly216Arg	Likely pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Thr283Ile	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Thr283Ile	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Phe220Ser	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Phe220Ser	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg121Trp	Likely benign
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg121Trp	Likely benign
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gln26Arg	Likely benign
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gln26Arg	Likely benign
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ser167Phe	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ser167Phe	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Trp144Ter	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Trp144Ter	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gly321Glu	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gly321Glu	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val336Asp	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val336Asp	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Asp251His	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Asp251His	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.His331Tyr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.His331Tyr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro371His	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro371His	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala345Pro	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala345Pro	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Met344Ile	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Met344Ile	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro149Leu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro149Leu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ile48Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ile48Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Met344Leu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Met344Leu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Asn100Asp	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Asn100Asp	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala227Pro	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala227Pro	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala387Thr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala387Thr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala230Gly	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala230Gly	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gln238Ter	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gln238Ter	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala227Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala227Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg11Gly	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg11Gly	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	Deletion	p.Ala227fs	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	Deletion	p.Ala227fs	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	Duplication	p.Gly325delinsLeuTer	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	Duplication	p.Gly325delinsLeuTer	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ser241Arg	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ser241Arg	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Phe3Leu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Phe3Leu	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Asp352Ala	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Asp352Ala	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gly212Ser	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gly212Ser	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Met101Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Met101Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala80Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala80Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Tyr94Cys	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Tyr94Cys	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Trp284Arg	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Trp284Arg	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	Duplication	p.Thr320fs	Pathogenic/Likely pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	Duplication	p.Thr320fs	Pathogenic/Likely pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Lys77Arg	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Lys77Arg	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Leu329Phe	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Leu329Phe	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ser40Arg	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ser40Arg	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg58Gln	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg58Gln	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Leu264Trp	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Leu264Trp	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val195Ala	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val195Ala	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg388Gln	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg388Gln	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Asp133Gly	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Asp133Gly	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ile33Asn	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ile33Asn	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro149Ala	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Pro149Ala	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala145Thr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ala145Thr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ser162Thr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Ser162Thr	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg310Gln	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg310Gln	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gln61Arg	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Gln61Arg	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Lys265Gln	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Lys265Gln	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Leu155Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Leu155Val	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Glu355Ter	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Glu355Ter	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Leu329Ter	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Leu329Ter	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg310Ter	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg310Ter	Pathogenic
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg10Lys	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Arg10Lys	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val159Phe	Uncertain significance
Q8WWV3	Q8WWV3-1	RTN4IP1	single nucleotide variant	p.Val159Phe	Uncertain significance