Full data view for gene RAX2

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_032753.3 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1_2i c.-2144_216+191del r.? p.? Both (homozygous) - pathogenic g.3771334_3774295del - chr19:g.3771337_3774298del - RAX2_000017 - PubMed: Van de Sompele-2019 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease Patient lll PubMed: Van de Sompele-2019 - F - - European - - - - 1 LOVD
+/. 1_3 c.-765_*4835del r.? p.? Unknown - pathogenic g.3765784_3772916del - chr19: g.3765788_3772920del - RAX2_000013 - PubMed: Van de Sompele-2019 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease Patient V PubMed: Van de Sompele-2019 - F - - European - - - - 1 LOVD
+/. 1_3 c.-765_*4835del r.? p.? Unknown - pathogenic g.3765784_3772916del - chr19: g.3765788_3772920del - RAX2_000013 - PubMed: Van de Sompele-2019 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease Patient VI PubMed: Van de Sompele-2019 - M - - European - - - - 1 LOVD
?/. - c.-10+8C>T r.(=) p.(=) Unknown - VUS g.3772153G>A g.3772155G>A RAX2(NM_001319074.1):c.-131+8C>T - RAX2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10+150_-10+151del r.(=) p.(=) Unknown - likely benign g.3772023_3772024del g.3772025_3772026del RAX2(NM_001319074.1):c.-130-3_-130-2delCA - RAX2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10+150_-10+151dup r.(=) p.(=) Unknown - likely benign g.3772023_3772024dup g.3772025_3772026dup RAX2(NM_001319074.1):c.-130-3_-130-2dupCA - MRPL54_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-9-131G>A r.(=) p.(=) Unknown - benign g.3771880C>T g.3771882C>T RAX2(NM_032753.4):c.-9-131G>A - RAX2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-9-41dup r.(=) p.(=) Unknown - likely pathogenic g.3771796dup g.3771798dup RAX2(NM_001319074.1):c.89dupC (p.A31Sfs*74) - MRPL54_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-9-36G>A r.(=) p.(=) Unknown - benign g.3771785C>T - RAX2(NM_001319074.4):c.-45G>A - MRPL54_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-9-10G>A r.(=) p.(=) Unknown - likely benign g.3771759C>T g.3771761C>T RAX2(NM_001319074.1):c.120G>A (p.P40=) - MRPL54_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.45T>G r.(?) p.(Gly15=) Unknown - likely benign g.3771696A>C g.3771698A>C RAX2(NM_001319074.4):c.45T>G (p.G15=), RAX2(NM_032753.3):c.45T>G (p.G15=) - RAX2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.45T>G r.(?) p.(Gly15=) Unknown - benign g.3771696A>C - RAX2(NM_001319074.4):c.45T>G (p.G15=), RAX2(NM_032753.3):c.45T>G (p.G15=) - RAX2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.53C>T r.(?) p.(Pro18Leu) Unknown - VUS g.3771688G>A - RAX2(NM_001319074.1):c.191C>T (p.P64L) - MRPL54_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.76A>C r.(?) p.(Lys26Gln) Unknown ACMG VUS g.3771665T>G g.3771667T>G - - RAX2_000020 ACMG PM2, BP6 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? STGD-430 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
?/. - c.82C>T r.(?) p.(Arg28Trp) Unknown - VUS g.3771659G>A - RAX2(NM_001319074.4):c.82C>T (p.R28W) - MRPL54_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.92G>A r.(?) p.(Arg31His) Unknown - VUS g.3771649C>T g.3771651C>T - - RAX2_000010 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71780 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
+?/. - c.133G>A r.(?) p.(Ala45Thr) Unknown - likely pathogenic g.3771608C>T g.3771610C>T RAX2 c.133G>A, p.Ala45Thr - RAX2_000012 heterozygous PubMed: Liu 2020 - rs760640216 Germline/De novo (untested) ? 1/64 - - - DNA SEQ-NG-I blood 326 selected genes from whole exome sequencing retinal disease G1507 PubMed: Liu 2020 - ? - China - - - - - 1 LOVD
+?/. 2 c.145T>C r.(?) p.(Ser49Pro) Both (homozygous) - likely pathogenic g.3771596A>G - c.145T>C - RAX2_000019 - PubMed: Van de Sompele-2019 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease Patient lV PubMed: Van de Sompele-2019 - F - - European - - - - 1 LOVD
+?/. 2 c.155C>G r.(?) p.(Pro52Arg) Unknown - likely pathogenic g.3771586G>C - c.155C>G - RAX2_000018 - PubMed: Van de Sompele-2019 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease Patient V PubMed: Van de Sompele-2019 - F - - European - - - - 1 LOVD
+?/. 2 c.155C>G r.(?) p.(Pro52Arg) Unknown - likely pathogenic g.3771586G>C - c.155C>G - RAX2_000018 - PubMed: Van de Sompele-2019 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease Patient VI PubMed: Van de Sompele-2019 - M - - European - - - - 1 LOVD
-?/. - c.155C>T r.(?) p.(Pro52Leu) Unknown - likely benign g.3771586G>A - RAX2(NM_001319074.4):c.155C>T (p.P52L) - MRPL54_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.208C>T r.(?) p.(Arg70Cys) Unknown - VUS g.3771533G>A - RAX2(NM_001319074.1):c.346C>T (p.R116C) - MRPL54_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.235C>T r.(?) p.(Arg79Trp) Unknown - VUS g.3770939G>A - RAX2(NM_001319074.1):c.373C>T (p.R125W) - MRPL54_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.235C>T r.(?) p.(Arg79Trp) Unknown ACMG VUS g.3770939G>A g.3770941G>A - - MRPL54_000010 ACMG PP3, PM2; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MDS-307 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+?/. - c.236G>A r.(?) p.(Arg79Gln) Both (homozygous) - likely pathogenic g.3770938C>T g.3770940C>T - - RAX2_000008 - PubMed: Maranha 2015, Journal: Maranhao 2015 - - Germline - - - - - DNA SEQ WBC - retinal disease PKRD176;61176 PubMed: Maranha 2015, Journal: Maranhao 2015, PubMed: Li 2017 - M yes Pakistan Pakistani - - - - 1 James Hejtmancik
+?/. 3 c.260G>A r.(?) p.(Arg87Gln) Unknown - likely pathogenic g.3770914C>T - R87Q - RAX2_000016 - PubMed: Wang-2004 - - Germline - - - - - DNA SSCA - - retinal disease - PubMed: Wang-2004 - - - - - - - - - 1 LOVD
?/. - c.293C>T r.(?) p.(Pro98Leu) Unknown - VUS g.3770881G>A g.3770883G>A RAX2(NM_001319074.1):c.431C>T (p.P144L), RAX2(NM_001319074.4):c.293C>T (p.P98L) - MRPL54_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.293C>T r.(?) p.(Pro98Leu) Unknown - likely benign g.3770881G>A - RAX2(NM_001319074.1):c.431C>T (p.P144L), RAX2(NM_001319074.4):c.293C>T (p.P98L) - MRPL54_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.315G>A r.(?) p.(Ala105=) Unknown - likely benign g.3770859C>T - RAX2(NM_001319074.1):c.453G>A (p.A151=) - MRPL54_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.335dup r.(?) p.(Ala113GlyfsTer178) Unknown - pathogenic g.3770844dup g.3770846dup RAX2(NM_001319074.1):c.473dupC (p.A159Gfs*178) - MRPL54_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.335dup r.(?) p.(Ala113Glyfs*178) Both (homozygous) - pathogenic g.3770839dup - c.335dup - MRPL54_000003 - PubMed: Van de Sompele-2019 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease Patient I PubMed: Van de Sompele-2019 - F - - European - - - - 1 LOVD
+/. 3 c.335dup r.(?) p.(Ala113Glyfs*178) Both (homozygous) - pathogenic g.3770839dup - c.335dup - MRPL54_000003 - PubMed: Van de Sompele-2019 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease Patient II PubMed: Van de Sompele-2019 - M - - European - - - - 1 LOVD
+/. - c.344C>A r.(?) p.(Ser115*) Parent #1 - pathogenic g.3770830G>T g.3770832G>T - - RAX2_000007 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs398124431 Germline - 1/2765 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. 3 c.409G>C r.(?) p.(Gly137Arg) Unknown - likely pathogenic g.3770765C>G - G137R - RAX2_000015 - PubMed: Wang-2004 - - Germline - - - - - DNA SSCA - - retinal disease - PubMed: Wang-2004 - - - - - - - - - 1 LOVD
?/. - c.417_422dup r.(?) p.(Pro140_Gly141dup) Unknown - VUS g.3770761_3770766dup g.3770763_3770768dup - - RAX2_000009 no genotypes reported PubMed: Sergouniotis 2016 - rs549932754 Germline - 1/486 individuals - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Sergouniotis 2016 analysis 486 cases - - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. 3 c.417_422dup r.(?) p.(Pro140_Gly141dup) Unknown - likely pathogenic g.3770752_3770757dup - 6 bp (CCCGGG), 140P_141Gdup - RAX2_000009 also identified in the proband’s mother and two siblings who are said to have ‘normal’ vision, but were not available for ophthalmologic exam and testing. Hence, the possibility that they have mild CORD cannot be excluded. PubMed: Wang-2004 - - Germline - - - - - DNA SSCA - - retinal disease - PubMed: Wang-2004 - - - - - - - - - 1 LOVD
-?/. - c.432G>A r.(?) p.(Ala144=) Unknown - likely benign g.3770742C>T g.3770744C>T RAX2(NM_001319074.1):c.570G>A (p.A190=), RAX2(NM_001319074.4):c.432G>A (p.A144=) - MRPL54_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.432G>A r.(?) p.(Ala144=) Unknown - likely benign g.3770742C>T - RAX2(NM_001319074.1):c.570G>A (p.A190=), RAX2(NM_001319074.4):c.432G>A (p.A144=) - MRPL54_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.465_475del r.(?) p.(Ala156Argfs*131) Unknown - likely pathogenic g.3770699_3770709del - c.465_475delCGCAGATGGCT - RAX2_000014 - PubMed: Yang-2015 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease PatientIV-4 PubMed: Yang-2015 - F - United States - - - - - 1 LOVD
+?/. 3 c.465_475del r.(?) p.(Ala156Argfs*131) Unknown - likely pathogenic g.3770699_3770709del - c.465_475delCGCAGATGGCT - RAX2_000014 - PubMed: Yang-2015 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease PatientIII-12 PubMed: Yang-2015 - M - United States - - - - - 1 LOVD
+?/. 3 c.465_475del r.(?) p.(Ala156Argfs*131) Unknown - likely pathogenic g.3770699_3770709del - c.465_475delCGCAGATGGCT - RAX2_000014 - PubMed: Yang-2015 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease Patient III-5 PubMed: Yang-2015 brother of III-4 and III-12 M - United States - - - - - 1 LOVD
+/. 3 c.465_475del r.(?) p.(Ala156ArgfsTer131) Parent #1 ACMG pathogenic g.3770700_3770710del g.3770702_3770712del 603_613del (Ala156Argfs*131) - RAX2_000014 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073197 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+?/. - c.474dup r.(?) p.(Phe159Leufs*132) Unknown - likely pathogenic g.3770700dup g.3770702dup error in annotation, amino acid 114 is not Leu; cDNA annotation also wrong: c.473C-->CG; p.Leu114Alafs*18 - RAX2_000011 no Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG, SEQ blood - CORD11 269 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. - c.500G>A r.(?) p.(Arg167Gln) Unknown - VUS g.3770674C>T g.3770676C>T RAX2(NM_001319074.1):c.638G>A (p.R213Q) - MRPL54_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


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