Full data view for gene GPR125

NOTE: gene name changed from GPR125 to ADGRA3. This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_145290.3 transcript reference sequence.

87 entries on 1 page. Showing entries 1 - 87.
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     
?/. - c.98_106del r.(?) p.(Gly33_Gly35del) Parent #1 - VUS g.22517312_22517320del g.22515689_22515697del - - GPR125_000053 no genotypes reported PubMed: Sergouniotis 2016 - - Germline - 1/486 individuals - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Sergouniotis 2016 analysis 486 cases - - United Kingdom (Great Britain) - - - - - 1 LOVD
-?/. - c.102C>A r.(?) p.(Gly34=) Unknown - likely benign g.22517306G>T - ADGRA3(NM_145290.4):c.102C>A (p.G34=) - GPR125_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.104_106del r.(?) p.(Gly35del) Unknown - VUS g.22517318_22517320del g.22515695_22515697del - - GPR125_000054 no genotypes reported PubMed: Sergouniotis 2016 - rs769005255 Germline - 8/486 individuals - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Sergouniotis 2016 analysis 486 cases - - United Kingdom (Great Britain) - - - - - 8 LOVD
?/. - c.169G>A r.(?) p.(Gly57Ser) Unknown - VUS g.22517239C>T g.22515616C>T - - GPR125_000047 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs537261703 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.470G>A r.(?) p.(Arg157Gln) Unknown - VUS g.22456492C>T g.22454869C>T GPR125(NM_145290.3):c.470G>A (p.R157Q) - GPR125_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.478C>A r.(?) p.(Leu160Ile) Unknown - benign g.22449130G>T g.22447507G>T ADGRA3(NM_145290.4):c.478C>A (p.L160I) - GPR125_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.560A>C r.(?) p.(Glu187Ala) Unknown - likely pathogenic (recessive) g.22446742T>G g.22445119T>G - - GPR125_000058 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ - - retinal disease RP207 PubMed: Xu 2014 - - - China - - - - - 2 Isabelle Audo
?/. - c.599G>A r.(?) p.(Arg200His) Unknown - VUS g.22446703C>T g.22445080C>T - - GPR125_000046 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs147390035 Germline - 63/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 63 Yoshito Koyanagi
?/. - c.599G>A r.(?) p.(Arg200His) Both (homozygous) - VUS g.22446703C>T g.22445080C>T - - GPR125_000046 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs147390035 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
-/. - c.681C>T r.(?) p.(Gly227=) Unknown - benign g.22446621G>A g.22444998G>A ADGRA3(NM_145290.4):c.681C>T (p.G227=) - GPR125_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.726G>A r.(?) p.(Pro242=) Unknown - likely benign g.22444467C>T - ADGRA3(NM_145290.4):c.726G>A (p.P242=) - GPR125_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.808G>C r.(?) p.(Asp270His) Unknown - VUS g.22444385C>G g.22442762C>G - - GPR125_000045 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.819G>T r.(?) p.(Met273Ile) Unknown - VUS g.22444374C>A g.22442751C>A - - GPR125_000044 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 3/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
-/. - c.859G>A r.(?) p.(Asp287Asn) Unknown - benign g.22444334C>T g.22442711C>T ADGRA3(NM_145290.4):c.859G>A (p.D287N) - GPR125_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.859G>A r.(?) p.(Asp287Asn) Unknown - likely pathogenic (recessive) g.22444334C>T g.22442711C>T - - GPR125_000016 - PubMed: Xu 2014 - rs138542858 Germline - 2/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP315 PubMed: Xu 2014 patient F - China - - - - - 1 LOVD
?/. - c.859G>A r.(?) p.(Asp287Asn) Unknown - VUS g.22444334C>T g.22442711C>T - - GPR125_000016 - PubMed: Xu 2014 - rs138542858 Germline - 2/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP255 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
-?/. - c.866C>T r.(?) p.(Ser289Leu) Unknown - likely benign g.22444327G>A g.22442704G>A ADGRA3(NM_145290.4):c.866C>T (p.S289L) - GPR125_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.920+13T>A r.(=) p.(=) Unknown - likely benign g.22444260A>T - ADGRA3(NM_145290.4):c.920+13T>A - GPR125_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.920+20_920+21del r.(=) p.(=) Unknown - benign g.22444265_22444266del g.22442642_22442643del ADGRA3(NM_145290.4):c.920+20_920+21delTT - GPR125_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.950G>A r.(?) p.(Gly317Glu) Unknown - VUS g.22440014C>T g.22438391C>T - - GPR125_000043 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs756306946 Germline - 3/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
?/. - c.989G>A r.(?) p.(Arg330His) Unknown - VUS g.22439975C>T g.22438352C>T ADGRA3(NM_145290.4):c.989G>A (p.R330H), GPR125(NM_145290.3):c.989G>A (p.R330H) - GPR125_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.989G>A r.(?) p.(Arg330His) Unknown - VUS g.22439975C>T g.22438352C>T ADGRA3(NM_145290.4):c.989G>A (p.R330H), GPR125(NM_145290.3):c.989G>A (p.R330H) - GPR125_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1049C>T r.(?) p.(Pro350Leu) Unknown - likely benign g.22439915G>A g.22438292G>A ADGRA3(NM_145290.4):c.1049C>T (p.P350L) - GPR125_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1049C>T r.(?) p.(Pro350Leu) Unknown - VUS g.22439915G>A g.22438292G>A - - GPR125_000023 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs147843055 Germline - 3/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
-/. - c.1086-17T>G r.(=) p.(=) Unknown - benign g.22438281A>C g.22436658A>C ADGRA3(NM_145290.4):c.1086-17T>G - GPR125_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1090C>T r.(?) p.(Pro364Ser) Unknown - likely benign g.22438260G>A g.22436637G>A ADGRA3(NM_145290.4):c.1090C>T (p.P364S) - GPR125_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1325_1326insCCACAGCTCG r.(?) p.(Gln443HisfsTer17) Unknown - likely benign g.22437059_22437060insGGCGAGCTGT g.22435436_22435437insGGCGAGCTGT ADGRA3(NM_145290.4):c.1325_1326insCCACAGCTCG (p.Q443Hfs*17) - GPR125_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1416A>G r.(?) p.(Arg472=) Unknown - benign g.22436961T>C g.22435338T>C ADGRA3(NM_145290.4):c.1416A>G (p.R472=) - GPR125_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1443+7_1443+9del r.(=) p.(=) Unknown - likely benign g.22436925_22436927del g.22435302_22435304del GPR125(NM_145290.3):c.1443+7_1443+9delCTC - GPR125_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1582G>A r.(?) p.(Gly528Ser) Unknown - benign g.22425837C>T g.22424214C>T ADGRA3(NM_145290.4):c.1582G>A (p.G528S), GPR125(NM_145290.3):c.1582G>A (p.G528S) - GPR125_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1582G>A r.(?) p.(Gly528Ser) Unknown - likely benign g.22425837C>T g.22424214C>T ADGRA3(NM_145290.4):c.1582G>A (p.G528S), GPR125(NM_145290.3):c.1582G>A (p.G528S) - GPR125_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1582G>A r.(?) p.(Gly528Ser) Unknown - VUS g.22425837C>T g.22424214C>T - - GPR125_000012 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs61745011 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-?/. - c.1590T>C r.(?) p.(Ala530=) Unknown - likely benign g.22425829A>G - ADGRA3(NM_145290.4):c.1590T>C (p.A530=) - GPR125_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1638C>T r.(?) p.(Val546=) Unknown - likely benign g.22422680G>A g.22421057G>A ADGRA3(NM_145290.3):c.1638C>T (p.V546=) - GPR125_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1659G>A r.[(=,1755_1809del)] p.? Parent #1 - likely pathogenic g.22422659C>T g.22421036C>T - - GPR125_000052 - PubMed: Soens 2017 - - Germline - - - - - DNA SEQ - - retinal disease SRF_1099 PubMed: Soens 2017 possible duplicate - - - - - - - - 1 LOVD
?/. - c.1703G>A r.(?) p.(Arg568His) Unknown - VUS g.22422615C>T g.22420992C>T GPR125(NM_145290.3):c.1703G>A (p.R568H) - GPR125_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1706C>T r.(?) p.(Thr569Ile) Unknown - VUS g.22422612G>A g.22420989G>A - - GPR125_000042 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs200835396 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.2000C>T r.(?) p.(Thr667Ile) Unknown - VUS g.22415247G>A g.22413624G>A - - GPR125_000041 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.2264C>T r.(?) p.(Ala755Val) Unknown - VUS g.22404391G>A g.22402768G>A - - GPR125_000040 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs61736468 Germline - 103/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 103 Yoshito Koyanagi
?/. - c.2264C>T r.(?) p.(Ala755Val) Both (homozygous) - VUS g.22404391G>A g.22402768G>A - - GPR125_000040 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs61736468 Germline - 3/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
-?/. - c.2302A>G r.(?) p.(Ile768Val) Both (homozygous) - likely benign g.22404353T>C - - - GPR125_000059 - PubMed: Naqvi 2022 - rs200151762 Germline - - - - - DNA SEQ, SEQ-NG - WES MCPH family PubMed: Naqvi 2022 5-generation family, 7 affected (4F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 1 Johan den Dunnen
-?/. - c.2392C>T r.(?) p.(Leu798Phe) Unknown - likely benign g.22403143G>A g.22401520G>A ADGRA3(NM_145290.4):c.2392C>T (p.L798F) - GPR125_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2392C>T r.(?) p.(Leu798Phe) Unknown ACMG likely pathogenic g.22403143G>A g.22401520G>A GPR125 c.2392C>T, p.(Leu798Phe) - GPR125_000020 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 410 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.2431G>T r.(?) p.(Val811Phe) Unknown - likely pathogenic (recessive) g.22403104C>A g.22401481C>A - - GPR125_000057 - PubMed: Xu 2014 - - Germline - 3/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP059 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
+?/. - c.2431G>T r.(?) p.(Val811Phe) Unknown - likely pathogenic (recessive) g.22403104C>A g.22401481C>A - - GPR125_000057 - PubMed: Xu 2014 - - Germline - 3/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP144 PubMed: Xu 2014 family M - China - - - - - 1 LOVD
+/. 17 c.2504C>G r.(?) p.(Ser835Cys) Both (homozygous) - pathogenic g.22394291G>C g.22392668G>C - - GPR125_000001 - PubMed: Abu-Safieh-2013 - - Unknown - - - - - DNA SEQ-NG-I - - RP - PubMed: Abu-Safieh-2013 - - - - - - - - - 1 Leen Abu Safieh
+?/. - c.2504C>G r.(?) p.(Ser835Cys) Unknown - likely pathogenic g.22394291G>C g.22392668G>C - - GPR125_000001 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 09DG00459 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
-/. - c.2553C>T r.(?) p.(Tyr851=) Unknown - benign g.22394242G>A g.22392619G>A ADGRA3(NM_145290.4):c.2553C>T (p.Y851=) - GPR125_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2556A>C r.(?) p.(Lys852Asn) Unknown - VUS g.22394239T>G g.22392616T>G - - GPR125_000039 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs117922332 Germline - 170/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 170 Yoshito Koyanagi
?/. - c.2556A>C r.(?) p.(Lys852Asn) Both (homozygous) - VUS g.22394239T>G g.22392616T>G - - GPR125_000039 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs117922332 Germline - 9/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 9 Yoshito Koyanagi
?/. - c.2601dup r.(?) p.(Pro868ThrfsTer31) Unknown ACMG VUS g.22394194dup g.22392571dup - - GPR125_000065 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1205 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
-?/. - c.2620A>G r.(?) p.(Met874Val) Unknown - likely benign g.22394175T>C - ADGRA3(NM_145290.4):c.2620A>G (p.M874V) - GPR125_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2667C>T r.(?) p.(Cys889=) Unknown - benign g.22390767G>A g.22389144G>A ADGRA3(NM_145290.4):c.2667C>T (p.C889=) - GPR125_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2689A>G r.(?) p.(Ile897Val) Unknown - likely pathogenic (recessive) g.22390745T>C g.22389122T>C - - GPR125_000056 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP319 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
?/. - c.2720C>A r.(?) p.(Pro907His) Unknown - VUS g.22390714G>T g.22389091G>T - - GPR125_000038 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
?/. - c.2801A>G r.(?) p.(Tyr934Cys) Unknown - VUS g.22390493T>C g.22388870T>C - - GPR125_000037 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs137992274 Germline - 14/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 14 Yoshito Koyanagi
+?/. - c.2801A>G r.(?) p.(Tyr934Cys) Unknown - likely pathogenic (recessive) g.22390493T>C g.22388870T>C - - GPR125_000037 - PubMed: Xu 2014 - rs137992274 Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP246 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
?/. 19 c.2801A>G r.(?) p.(Tyr934Cys) Unknown - VUS g.22390493T>C g.22388870T>C A2801G - GPR125_000037 - PubMed: Katagiri 2014 - rs137992274 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#030 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
+?/. - c.2843G>A r.(?) p.(Arg948His) Parent #2 - likely pathogenic g.22390451C>T g.22388828C>T - - GPR125_000051 - PubMed: Soens 2017 - - Germline - - - - - DNA SEQ - - retinal disease SRF_1099 PubMed: Soens 2017 possible duplicate - - - - - - - - 1 LOVD
-?/. - c.2901T>C r.(?) p.(=) Unknown - likely benign g.22390393A>G - ADGRA3(NM_145290.4):c.2901T>C (p.N967=) - GPR125_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3015A>G r.(?) p.(Leu1005=) Unknown - likely benign g.22390279T>C g.22388656T>C ADGRA3(NM_145290.4):c.3015A>G (p.L1005=) - GPR125_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3044T>C r.(?) p.(Leu1015Ser) Unknown - VUS g.22390250A>G g.22388627A>G - - GPR125_000036 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs201588033 Germline - 20/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 20 Yoshito Koyanagi
-/. - c.3090T>A r.(?) p.(Val1030=) Unknown - benign g.22390204A>T g.22388581A>T ADGRA3(NM_145290.4):c.3090T>A (p.V1030=) - GPR125_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3120G>A r.(?) p.(Ala1040=) Unknown - likely benign g.22390174C>T g.22388551C>T ADGRA3(NM_145290.3):c.3120G>A (p.A1040=) - GPR125_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3127G>A r.(?) p.(Val1043Met) Unknown - VUS g.22390167C>T g.22388544C>T - - GPR125_000035 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs9002 Germline - 359/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 359 Yoshito Koyanagi
?/. - c.3127G>A r.(?) p.(Val1043Met) Both (homozygous) - VUS g.22390167C>T g.22388544C>T - - GPR125_000035 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs9002 Germline - 53/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 53 Yoshito Koyanagi
?/. - c.3245C>T r.(?) p.(Thr1082Met) Unknown - VUS g.22390049G>A g.22388426G>A - - GPR125_000034 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs117576731 Germline - 19/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 19 Yoshito Koyanagi
?/. - c.3245C>T r.(?) p.(Thr1082Met) Both (homozygous) - VUS g.22390049G>A g.22388426G>A - - GPR125_000034 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs117576731 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
?/. - c.3281C>T r.(?) p.(Ala1094Val) Unknown - VUS g.22390013G>A g.22388390G>A - - GPR125_000033 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs141619991 Germline - 7/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 7 Yoshito Koyanagi
?/. 19 c.3281C>T r.(?) p.(Ala1094Val) Unknown - VUS g.22390013G>A - C3281T - GPR125_000033 - PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 - rs141619991 Germline - - - - - DNA SEQ, SEQ-NG Blood WES COD patient PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 2-generation family, 1 affected, unaffected parents M no Japan - >20y - - - 1 Najlae Akhiyate
?/. 19 c.3281C>T r.(?) p.(Ala1094Val) Unknown - VUS g.22390013G>A g.22388390G>A C3281T - GPR125_000033 - PubMed: Katagiri 2014 - rs141619991 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#020 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
-/. - c.3468G>A r.(?) p.(Ala1156=) Unknown - benign g.22389826C>T g.22388203C>T ADGRA3(NM_145290.4):c.3468G>A (p.A1156=) - GPR125_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3480T>C r.(?) p.(Val1160=) Unknown - likely benign g.22389814A>G - ADGRA3(NM_145290.4):c.3480T>C (p.V1160=) - GPR125_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3497T>G r.(?) p.(Val1166Gly) Unknown - VUS g.22389797A>C g.22388174A>C - - GPR125_000032 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs3814416 Germline - 142/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 142 Yoshito Koyanagi
?/. - c.3497T>G r.(?) p.(Val1166Gly) Both (homozygous) - VUS g.22389797A>C g.22388174A>C - - GPR125_000032 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs3814416 Germline - 3/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
-/. - c.3555A>T r.(?) p.(Thr1185=) Unknown - benign g.22389739T>A g.22388116T>A ADGRA3(NM_145290.4):c.3555A>T (p.T1185=) - GPR125_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3587C>G r.(?) p.(Thr1196Arg) Unknown - likely benign g.22389707G>C g.22388084G>C ADGRA3(NM_145290.4):c.3587C>G (p.T1196R), GPR125(NM_145290.3):c.3587C>G (p.(Thr1196Arg)) - GPR125_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3587C>G r.(?) p.(Thr1196Arg) Unknown - VUS g.22389707G>C g.22388084G>C ADGRA3(NM_145290.4):c.3587C>G (p.T1196R), GPR125(NM_145290.3):c.3587C>G (p.(Thr1196Arg)) - GPR125_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3592G>A r.(?) p.(Val1198Met) Unknown - VUS g.22389702C>T g.22388079C>T - - GPR125_000031 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs747139796 Germline - 4/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 4 Yoshito Koyanagi
?/. 19 c.3592G>A r.(?) p.(Val1198Met) Unknown - VUS g.22389702C>T g.22388079C>T G3592A - GPR125_000031 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#003 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/. - c.3662G>A r.(?) p.(Arg1221Gln) Unknown - VUS g.22389632C>T g.22388009C>T - - GPR125_000030 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs140656046 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+?/. - c.3668C>T r.(?) p.(Ala1223Val) Unknown - likely pathogenic (recessive) g.22389626G>A g.22388003G>A - - GPR125_000055 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP200 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
-?/. - c.3826A>C r.(?) p.(Asn1276His) Unknown - likely benign g.22389468T>G g.22387845T>G ADGRA3(NM_145290.4):c.3826A>C (p.N1276H) - GPR125_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3893A>C r.(?) p.(Glu1298Ala) Unknown - VUS g.22389401T>G g.22387778T>G - - GPR125_000029 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.3907G>A r.(?) p.(Gly1303Ser) Unknown - VUS g.22389387C>T g.22387764C>T - - GPR125_000028 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs147716223 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.3907G>T r.(?) p.(Gly1303Cys) Unknown - VUS g.22389387C>A g.22387764C>A GPR125(NM_145290.3):c.3907G>T (p.G1303C) - GPR125_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*17A>G r.(=) p.(=) Unknown - benign g.22389311T>C g.22387688T>C ADGRA3(NM_145290.4):c.*17A>G - GPR125_000002 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.