Full data view for gene GPR98


This database is one of the ”Retinal and hearing impairment genetic variant databases”. NOTE: gene symbol was recently changed from GPR98 to ADGRV1.
Information The variants shown are described using the NM_032119.3 transcript reference sequence.

2488 entries on 25 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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.-67A>T r.(?) p.(=) - Unknown - likely benign g.89854646A>T g.90558829A>T ADGRV1(NM_032119.4):c.-67A>T - GPR98_010009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-47G>C r.(?) p.(=) - Unknown - likely benign g.89854666G>C g.90558849G>C ADGRV1(NM_032119.4):c.-47G>C - GPR98_010010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 27i_33i c.? r.? p.? - Both (homozygous) - likely pathogenic (recessive) g.? - Del. exons 28–33 - RAD50_000000 - PubMed: Fuster-Garcia 2018 - - Germline - - - - - DNA arraySEQ - - retinal disease RP2011 PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - - - - 1 Global Variome, with Curator vacancy
+/. 78i_83i c.? r.? p.? - Parent #2 - pathogenic (recessive) g.? - Dup. exons 79–83 - RAD50_000000 - PubMed: Fuster-Garcia 2018 - - Germline - - - - - DNA arraySEQ - - retinal disease RP580M PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - - - - 1 Global Variome, with Curator vacancy
+?/. 84i_85i c.? r.? p.? - Parent #2 - likely pathogenic (recessive) g.? - Del. Exon 85 - RAD50_000000 - PubMed: Fuster-Garcia 2018 - - Germline - - - - - DNA arraySEQ - - retinal disease RP1936 PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.? r.? p.? - Parent #2 - likely pathogenic g.? - ex2-50 deletion - RAD50_000000 - PubMed: Riera 2017 - - Germline yes - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/40 PubMed: Riera 2017 patient - - Spain - - - - - 1 LOVD
+?/. - c.? r.? p.? - Parent #2 - likely pathogenic g.? - del ex85 - RAD50_000000 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA SEQ-NG - gene panel USH Pat124 PubMed: Neuhaus 2017 - - no Germany - - - - - 1 LOVD
+?/. 2 c.? r.(?) p.? - Unknown - likely pathogenic g.? - ADGRV1:p.P194Horp.R2959Q - RAD50_000000 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 2 c.? r.(?) p.? - Unknown - likely pathogenic g.? - ADGRV1:c.11771delT,p.V3924LfsX11 - RAD50_000000 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 2 c.? r.(?) p.? - Unknown - likely pathogenic g.? - ADGRV1:p.M5890fs - RAD50_000000 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 2 c.? r.(?) p.? - Unknown - likely pathogenic g.? - ADGRV1:p.P4513fs - RAD50_000000 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 2 c.? r.(?) p.? - Unknown - likely pathogenic g.? - ADGRV1:p.M5890Vfs*10 - RAD50_000000 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 2 c.? r.(?) p.? - Unknown - likely pathogenic g.? - ADGRV1:p.Q1640Rfs*6 - RAD50_000000 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
+?/. 2 c.? r.(?) p.? - Unknown - likely pathogenic g.? - ADGRV1:p.Q2301* - RAD50_000000 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
-?/. - c.13C>T r.(?) p.(Leu5=) - Unknown - likely benign g.89854725C>T - ADGRV1(NM_032119.4):c.13C>T (p.L5=) - GPR98_010645 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.22+9T>C r.(=) p.(=) - Unknown - benign g.89854743T>C g.90558926T>C ADGRV1(NM_032119.4):c.22+9T>C - GPR98_010469 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.22+9T>C r.(=) p.(=) - Unknown - likely benign g.89854743T>C g.90558926T>C ADGRV1(NM_032119.4):c.22+9T>C - GPR98_010469 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.22+9T>C r.(=) p.(=) - Unknown - likely benign g.89854743T>C - ADGRV1(NM_032119.4):c.22+9T>C - GPR98_010469 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 1i c.22+56C>T r.(=) p.(=) - Unknown - benign g.89854790C>T g.90558973C>T - - GPR98_000115 heterozygous; pathogenicity not assessed PubMed: Le Quesne Stabej 2012 - rs7706392 Germline - 0/96 controls +AcuI;+AfeI;-Mnl;- DdeI;-BbvCI;-Bpu10I; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/? 1i c.22+62A>G r.(=) p.(=) - Unknown ACMG likely benign g.89854796A>G g.90558979A>G - - GPR98_000070 heterozygous; pathogenicity not assessed PubMed: Le Quesne Stabej 2012 - rs41311623 Germline - 0/96 controls +HgaI;-SfaNI; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+?/. 1i_83i c.23-22417_17856+15293dup r.spl p.(?) - Unknown - likely pathogenic g.89888235_90174967dup g.90592418_90879150dup chr5:89888235–90174967dup (ex2-83) - GPR98_010750 duplication exon 2-83 (17856 coding bases, in frame) PubMed: Zampaglione 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I, PCRq blood - retinal disease OGI731_001448 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
-?/. - c.23-664_23-663del r.(=) p.(=) - Unknown - likely benign g.89909988_89909989del g.90614171_90614172del ADGRV1(NM_032119.4):c.23-664_23-663delAA - GPR98_010470 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.23-663del r.(=) p.(=) - Unknown - likely benign g.89909989del g.90614172del ADGRV1(NM_032119.4):c.23-663delA - GPR98_010012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.23-657T>A r.(=) p.(=) - Unknown - likely benign g.89909995T>A g.90614178T>A ADGRV1(NM_032119.4):c.23-657T>A - GPR98_010013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.23-591G>A r.(=) p.(=) - Unknown - benign g.89910061G>A g.90614244G>A ADGRV1(NM_032119.4):c.23-591G>A - GPR98_010014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.23-561A>G r.(=) p.(=) - Unknown - likely benign g.89910091A>G g.90614274A>G ADGRV1(NM_032119.4):c.23-561A>G - GPR98_010015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.23-526del r.(=) p.(=) - Unknown - benign g.89910126del g.90614309del ADGRV1(NM_032119.4):c.23-526delG - GPR98_010016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.23-510C>T r.(=) p.(=) - Unknown - likely benign g.89910142C>T g.90614325C>T ADGRV1(NM_032119.4):c.23-510C>T - GPR98_010017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.23-160C>G r.(=) p.(=) - Unknown - likely benign g.89910492C>G g.90614675C>G ADGRV1(NM_032119.4):c.23-160C>G - GPR98_010018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.23-130G>A r.(=) p.(=) - Unknown - likely benign g.89910522G>A g.90614705G>A ADGRV1(NM_032119.4):c.23-130G>A - GPR98_010019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.23-13C>G r.(=) p.(=) - Unknown - benign g.89910639C>G g.90614822C>G ADGRV1(NM_032119.4):c.23-13C>G - GPR98_010020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.42A>T r.(?) p.(Leu14Phe) - Unknown - benign g.89910671A>T g.90614854A>T ADGRV1(NM_032119.4):c.42A>T (p.L14F) - GPR98_010471 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.87A>T r.(?) p.(Gly29=) - Unknown - likely benign g.89910716A>T g.90614899A>T ADGRV1(NM_032119.4):c.87A>T (p.G29=) - GPR98_010413 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207+3A>G r.spl? p.? - Unknown - likely benign g.89910839A>G g.90615022A>G ADGRV1(NM_032119.4):c.207+3A>G - GPR98_010021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.207+78del r.(=) p.(=) - Unknown - benign g.89910914del g.90615097del ADGRV1(NM_032119.4):c.207+78delT - GPR98_010022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207+82_207+85del r.(=) p.(=) - Unknown - likely benign g.89910918_89910921del g.90615101_90615104del ADGRV1(NM_032119.4):c.207+82_207+85delTTTG - GPR98_010023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277A>G r.(?) p.(Asn93Asp) - Unknown - likely benign g.89913690A>G g.90617873A>G GPR98(NM_032119.3):c.277A>G (p.(Asn93Asp)) - GPR98_010593 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.327C>T r.(?) p.(Asp109=) - Unknown - benign g.89913740C>T g.90617923C>T ADGRV1(NM_032119.4):c.327C>T (p.D109=) - GPR98_010024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 3 c.327C>T r.(?) p.(=) Calx-beta 1 (77-116) Unknown - benign g.89913740C>T g.90617923C>T - - GPR98_000061 heterozygous; UV1 PubMed: Le Quesne Stabej 2012 - rs61753944 Germline - 2/838 controls none - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
+/+ 3 c.335_336del r.(?) p.(Phe112Tyrfs*29) Calx-beta 1 (77-116) Parent #1 - pathogenic g.89913748_89913749del g.90617931_90617932del 333_334delTT - GPR98_000018 heterozygous; Pathogenic PubMed: Bonnet 2011 - - Germline - - none - - DNA SEQ - - USH2 - PubMed: Bonnet 2011 Proband - - - - - - - - 1 Anne-Françoise Roux
-/. - c.357+8C>T r.(=) p.(=) - Unknown - benign g.89913778C>T g.90617961C>T ADGRV1(NM_032119.4):c.357+8C>T - GPR98_010472 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.357+36del r.(=) p.(=) - Unknown - likely benign g.89913806del g.90617989del ADGRV1(NM_032119.4):c.357+36delG - GPR98_010473 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.357+41dup r.(=) p.(=) - Unknown - likely benign g.89913811dup g.90617994dup ADGRV1(NM_032119.4):c.357+41dupC - GPR98_010474 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.357+48A>G r.spl? p.? - Paternal (confirmed) - VUS g.89913818A>G g.90618001A>G ADGRV1 nucleotide 1, protein 1:c.357+48A>G, p.? nucleotide 2, protein 2:c.853C>G, p.Arg285Gly - GPR98_010819 heterozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 69 PubMed: Hull 2020 - ? - New Zealand white - - - - 1 LOVD
-/- 3i c.358-216A>G r.(=) p.(=) - Unknown - benign g.89914687A>G g.90618870A>G - - GPR98_000184 heterozygous PubMed: Besnard 2012 - rs1673379 Germline - - +CviKI_1;-Tsp45I; - - DNA SEQ - - USH2 - PubMed: Besnard 2012 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3i c.358-216A>G r.(=) p.(=) - Unknown - benign g.89914687A>G g.90618870A>G - - GPR98_000184 heterozygous PubMed: Besnard 2012 - rs1673379 Germline - - +CviKI_1;-Tsp45I; - - DNA SEQ - - USH2 - PubMed: Besnard 2012 Proband M - France - - - - - 1 Anne-Françoise Roux
-/- 3i c.358-216A>G r.(=) p.(=) - Unknown - benign g.89914687A>G g.90618870A>G - - GPR98_000184 heterozygous PubMed: Besnard 2012 - rs1673379 Germline - - +CviKI_1;-Tsp45I; - - DNA arrayCGH, SEQ - - USH2 - PubMed: Besnard 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 3i c.358-216A>G r.(=) p.(=) - Paternal (inferred) - benign g.89914687A>G g.90618870A>G - - GPR98_000184 homozygous PubMed: Garcia-Garcia 2013 - rs1673379 Germline - - +CviKI_1;-Tsp45I; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - - - - 1 Anne-Françoise Roux
-/- 3i c.358-216A>G r.(=) p.(=) - Paternal (inferred) - benign g.89914687A>G g.90618870A>G - - GPR98_000184 homozygous PubMed: Garcia-Garcia 2013 - rs1673379 Germline - - +CviKI_1;-Tsp45I; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - - - - 1 Anne-Françoise Roux
-/- 3i c.358-216A>G r.(=) p.(=) - Paternal (inferred) - benign g.89914687A>G g.90618870A>G - - GPR98_000184 homozygous PubMed: Garcia-Garcia 2013 - rs1673379 Germline - - +CviKI_1;-Tsp45I; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - - - - 1 Anne-Françoise Roux
-/- 3i c.358-216A>G r.(=) p.(=) - Paternal (inferred) - benign g.89914687A>G g.90618870A>G - - GPR98_000184 homozygous PubMed: Garcia-Garcia 2013 - rs1673379 Germline - - +CviKI_1;-Tsp45I; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - - - - 1 Anne-Françoise Roux
-/- 3i c.358-216A>G r.(=) p.(=) - Maternal (inferred) - benign g.89914687A>G g.90618870A>G - - GPR98_000184 homozygous PubMed: Garcia-Garcia 2013 - rs1673379 Germline - - +CviKI_1;-Tsp45I; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - - - - 1 Anne-Françoise Roux
-/- 3i c.358-216A>G r.(=) p.(=) - Maternal (inferred) - benign g.89914687A>G g.90618870A>G - - GPR98_000184 homozygous PubMed: Garcia-Garcia 2013 - rs1673379 Germline - - +CviKI_1;-Tsp45I; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - - - - 1 Anne-Françoise Roux
-/- 3i c.358-216A>G r.(=) p.(=) - Maternal (inferred) - benign g.89914687A>G g.90618870A>G - - GPR98_000184 homozygous PubMed: Garcia-Garcia 2013 - rs1673379 Germline - - +CviKI_1;-Tsp45I; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - - - - 1 Anne-Françoise Roux
-/- 3i c.358-216A>G r.(=) p.(=) - Maternal (inferred) - benign g.89914687A>G g.90618870A>G - - GPR98_000184 homozygous PubMed: Garcia-Garcia 2013 - rs1673379 Germline - - +CviKI_1;-Tsp45I; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+?/. 4 c.362del r.(?) p.(Pro121Leufs*5) - Unknown - likely pathogenic g.89914907del g.90619090del - - GPR98_010005 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.363T>C r.(?) p.(Pro121=) - Unknown - likely benign g.89914908T>C g.90619091T>C ADGRV1(NM_032119.4):c.363T>C (p.P121=) - GPR98_010026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.376A>T r.(?) p.(Lys126*) - Parent #1 - likely pathogenic g.89914921A>T g.90619104A>T - - GPR98_010633 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
-/- 4 c.380T>G r.(?) p.(Leu127Arg) - Unknown - benign g.89914925T>G g.90619108T>G - - GPR98_000090 heterozygous; UV1 PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs41311333 Germline - 2/90 controls +HindIII;+AluI;+CviKI_1; - - DNA SEQ - - USH2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-/- 4 c.380T>G r.(?) p.(Leu127Arg) - Unknown - benign g.89914925T>G g.90619108T>G - - GPR98_000090 heterozygous PubMed: Garcia-Garcia 2013; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs41311333 Germline - - +HindIII;+AluI;+CviKI_1; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - - - - 1 Anne-Françoise Roux
-/. - c.380T>G r.(?) p.(Leu127Arg) - Parent #1 - benign g.89914925T>G g.90619108T>G - - GPR98_000090 37 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41311333 Germline - 37/2788 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 37 Mohammed Faruq
+?/. - c.395del r.(?) p.(Thr132Metfs*4) - Unknown - likely pathogenic g.89914940del - - - GPR98_010867 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.409A>G r.(?) p.(Ile137Val) - Unknown - VUS g.89914954A>G - ADGRV1(NM_032119.4):c.409A>G (p.I137V) - GPR98_010791 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.411A>T r.(?) p.(Ile137=) - Unknown - likely benign g.89914956A>T - - - GPR98_010828 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.425A>G r.(?) p.(Asn142Ser) - Unknown - VUS g.89914970A>G - ADGRV1(NM_032119.4):c.425A>G (p.N142S) - GPR98_010792 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.425A>G r.(?) p.(Asn142Ser) - Unknown - VUS g.89914970A>G - ADGRV1(NM_032119.4):c.425A>G (p.N142S) - GPR98_010792 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.453+8C>T r.(=) p.(=) - Unknown - likely benign g.89915006C>T g.90619189C>T ADGRV1(NM_032119.4):c.453+8C>T - GPR98_010027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.453+23A>C r.(=) p.(=) - Unknown - likely benign g.89915021A>C g.90619204A>C ADGRV1(NM_032119.4):c.453+23A>C - GPR98_010414 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.454-182C>A r.(=) p.(=) - Unknown - likely benign g.89918232C>A g.90622415C>A ADGRV1(NM_032119.4):c.454-182_454-179delCTTTinsATTT - GPR98_010028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 4i c.454-80G>T r.(=) p.(=) - Unknown - benign g.89918334G>T g.90622517G>T - - GPR98_000202 heterozygous PubMed: Besnard 2012 - rs16868864 Germline - - +AluI;+CviKI_1; - - DNA SEQ - - USH2 - PubMed: Besnard 2012 Proband M - France - - - - - 1 Anne-Françoise Roux
-?/. - c.454-5A>G r.spl? p.? - Unknown - likely benign g.89918409A>G - ADGRV1(NM_032119.4):c.454-5A>G - GPR98_010857 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.463A>G r.(?) p.(Ile155Val) - Unknown - likely benign g.89918423A>G - ADGRV1(NM_032119.4):c.463A>G (p.I155V) - GPR98_010646 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.466G>A r.(?) p.(Ala156Thr) - Unknown - likely benign g.89918426G>A g.90622609G>A ADGRV1(NM_032119.4):c.466G>A (p.A156T) - GPR98_010475 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.477G>A r.(?) p.(Glu159=) - Unknown - likely benign g.89918437G>A g.90622620G>A ADGRV1(NM_032119.4):c.477G>A (p.E159=) - GPR98_010029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.500T>C r.(?) p.(Met167Thr) - Unknown - likely benign g.89918460T>C - ADGRV1(NM_032119.4):c.500T>C (p.M167T) - GPR98_010840 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/? 5i c.558+63A>G r.(=) p.(=) - Unknown ACMG likely benign g.89918581A>G g.90622764A>G - - GPR98_000213 heterozygous PubMed: Besnard 2012 - - Germline - - +MnlI;-BsmAI;-HpyCH4III; - - DNA arrayCGH, SEQ - - USH2 - PubMed: Besnard 2012 Proband F - France - - - - - 1 Anne-Françoise Roux
-/- 5i c.558+103_558+123delinsCTCCAGG r.(=) p.(=) - Paternal (inferred) - benign g.89918621_89918641delinsCTCCAGG g.90622804_90622824delinsCTCCAGG - - GPR98_000248 homozygous; Neutral PubMed: Garcia-Garcia 2013 - - Germline - - +ApeKI;+BanI;+BbvI;-BfuCI;-BspCNI;-BstAPI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - - - - 1 Anne-Françoise Roux
-/- 5i c.558+103_558+123delinsCTCCAGG r.(=) p.(=) - Maternal (inferred) - benign g.89918621_89918641delinsCTCCAGG g.90622804_90622824delinsCTCCAGG - - GPR98_000248 homozygous; Neutral PubMed: Garcia-Garcia 2013 - - Germline - - +ApeKI;+BanI;+BbvI;-BfuCI;-BspCNI;-BstAPI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - - - - 1 Anne-Françoise Roux
-/- 5i c.558+103_558+123delinsCTCCAGG r.(=) p.(=) - Paternal (inferred) - benign g.89918621_89918641delinsCTCCAGG g.90622804_90622824delinsCTCCAGG - - GPR98_000248 homozygous; Neutral PubMed: Garcia-Garcia 2013 - - Germline - - +ApeKI;+BanI;+BbvI;-BfuCI;-BspCNI;-BstAPI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - - - - 1 Anne-Françoise Roux
-/- 5i c.558+103_558+123delinsCTCCAGG r.(=) p.(=) - Maternal (inferred) - benign g.89918621_89918641delinsCTCCAGG g.90622804_90622824delinsCTCCAGG - - GPR98_000248 homozygous; Neutral PubMed: Garcia-Garcia 2013 - - Germline - - +ApeKI;+BanI;+BbvI;-BfuCI;-BspCNI;-BstAPI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - - - - 1 Anne-Françoise Roux
-/? 5i c.558+103_558+123delinsCTCCAGG r.(=) p.(=) - Unknown - benign g.89918621_89918641delinsCTCCAGG g.90622804_90622824delinsCTCCAGG - - GPR98_000248 heterozygous; Neutral PubMed: Garcia-Garcia 2013 - - Germline - - +ApeKI;+BanI;+BbvI;-BfuCI;-BspCNI;-BstAPI; - - DNA SEQ - - USH2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - - - - 1 Anne-Françoise Roux
?/. - c.574A>G r.(?) p.(Asn192Asp) - Unknown - VUS g.89920962A>G g.90625145A>G ADGRV1(NM_032119.4):c.574A>G (p.N192D) - GPR98_010476 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.581C>A r.(?) p.(Pro194His) - Unknown - benign g.89920969C>A g.90625152C>A ADGRV1(NM_032119.4):c.581C>A (p.(Pro194His), p.P194H) - GPR98_010030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.581C>A r.(?) p.(Pro194His) - Unknown - likely benign g.89920969C>A - ADGRV1(NM_032119.4):c.581C>A (p.(Pro194His), p.P194H) - GPR98_010030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.649A>G r.(?) p.(Asn217Asp) - Unknown - VUS g.89921037A>G g.90625220A>G ADGRV1(NM_032119.4):c.649A>G (p.N217D) - GPR98_010477 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 6i c.672+56T>C r.(=) p.(=) - Unknown - benign g.89921116T>C g.90625299T>C - - GPR98_000071 heterozygous; pathogenicity not assessed PubMed: Le Quesne Stabej 2012 - rs41311331 Germline - 0/96 controls +CviKI_1;-PflFI;-HpyCH4III;-Tth111I; - - DNA SEQ - - USH1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Maria Bitner-Glindzicz
-?/. - c.673-140del r.(=) p.(=) - Unknown - likely benign g.89922888del g.90627071del ADGRV1(NM_032119.4):c.673-140delA - GPR98_010031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.746G>A r.(?) p.(Arg249Lys) - Unknown - likely benign g.89923101G>A g.90627284G>A ADGRV1(NM_032119.4):c.746G>A (p.R249K) - GPR98_010032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.746G>A r.(?) p.(Arg249Lys) - Unknown - likely benign g.89923101G>A g.90627284G>A ADGRV1(NM_032119.4):c.746G>A (p.R249K) - GPR98_010032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.746G>A r.(?) p.(Arg249Lys) - Unknown - benign g.89923101G>A g.90627284G>A ADGRV1(NM_032119.4):c.746G>A (p.R249K) - GPR98_010032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.746G>A r.(?) p.(Arg249Lys) - Unknown - pathogenic (recessive) g.89923101G>A - 5:89923101G>A ENST00000405460.2:c.746G>A (Arg249Lys) - GPR98_010032 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005198 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.746G>A r.(?) p.(Arg249Lys) - Unknown - likely pathogenic g.89923101G>A g.90627284G>A GPR98 c.746G>A, - GPR98_010032 heterozygous, protein change annotation missing in the table PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005198 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
-/. 7 c.746G>A r.(?) p.(Arg249Lys) - Unknown - benign g.89923101G>A - ADGRV1:p.R249K - GPR98_010032 - PubMed: Wafa-2021 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Wafa 2021 - - - United States - - - - - 1 LOVD
?/. 7 c.769G>A r.(?) p.(Gly257Arg) - Unknown - VUS g.89923124G>A - c.769G>A (p.Glu257Lys) - GPR98_010783 - PubMed: SkorczykWerner-2020 - - Germline - - - - - DNA arraySNP, SEQ-NG - - retinal disease - PubMed: SkorczykWerner 2020 - F - - Polish - - - - 1 LOVD
?/. 7 c.769G>A r.(?) p.(Gly257Arg) - Unknown - VUS g.89923124G>A - c.769G>A (p.Glu257Lys) - GPR98_010783 - PubMed: SkorczykWerner-2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease - PubMed: SkorczykWerner 2020 - M - - Polish - - - - 1 LOVD
?/. - c.853C>G r.(?) p.(Arg285Gly) - Unknown - VUS g.89923208C>G g.90627391C>G ADGRV1(NM_032119.4):c.853C>G (p.R285G) - GPR98_010033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.853C>G r.(?) p.(Arg285Gly) - Unknown - VUS g.89923208C>G g.90627391C>G ADGRV1(NM_032119.4):c.853C>G (p.R285G) - GPR98_010033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.853C>G r.(?) p.(Arg285Gly) - Unknown - VUS g.89923208C>G g.90627391C>G ADGRV1 nucleotide 1, protein 1:c.357+48A>G, p.? nucleotide 2, protein 2:c.853C>G, p.Arg285Gly - GPR98_010033 heterozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 69 PubMed: Hull 2020 - ? - New Zealand white - - - - 1 LOVD
+?/? 7 c.929G>A r.(?) p.(Gly310Glu) - Parent #2 ACMG VUS g.89923284G>A g.90627467G>A - - GPR98_000294 heterozygous; mutation PubMed: Jiang 2015; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs766790920 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH2 - PubMed: Jiang 2015 Proband M - China - - - - - 1 Anne-Françoise Roux
+/. 7 c.929G>A r.(?) p.(Gly310Glu) - Unknown ACMG pathogenic g.89923284G>A g.90627467G>A NM_032119.3:c.929G>A, NP_115495.3:p.(Gly310Glu), NC_000005.9:g.89923284G>A - GPR98_000294 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016121919 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
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