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.

2231 entries on 23 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     
+?/. 27i_33i c.? r.? p.? - Both (homozygous) - likely pathogenic (recessive) g.? - Del. exons 28–33 - RAD50_000000 - PubMed: Fuster-Garcia 2018 - - Germline - - - 0 - DNA arraySEQ - - retinal disease RP2011 PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - 0 - - 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 - - - 0 - DNA arraySEQ - - retinal disease RP580M PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - 0 - - 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 - - - 0 - DNA arraySEQ - - retinal disease RP1936 PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - 0 - - 1 Global Variome, with Curator vacancy
+?/. - c.? r.? p.? - Parent #2 - likely pathogenic g.? - ex2-50 deletion - RAD50_000000 - PubMed: Riera 2017 - - Germline yes - - 0 - DNA SEQ-NG - 212-gene panel retinal disease Fi15/40 PubMed: Riera 2017 patient - - Spain - - 0 - - 1 LOVD
+?/. - c.? r.? p.? - Parent #2 - likely pathogenic g.? - del ex85 - RAD50_000000 - PubMed: Neuhaus 2017 - - Germline - - - 0 - DNA SEQ-NG - gene panel USH Pat124 PubMed: Neuhaus 2017 - - no Germany - - 0 - - 1 LOVD
-?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/- 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; 0 - DNA SEQ - - USH-2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - 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; 0 - DNA SEQ - - USH-1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - 1 Maria Bitner-Glindzicz
-?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 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 0 - DNA SEQ - - USH-2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - 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 0 - DNA SEQ - - USH-2 - PubMed: Bonnet 2011 Proband - - - - - 0 - - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/- 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; 0 - DNA SEQ - - USH-2 - PubMed: Besnard 2012 Proband M - France - - 0 - - 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; 0 - DNA SEQ - - USH-2 - PubMed: Besnard 2012 Proband M - France - - 0 - - 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; 0 - DNA arrayCGH, SEQ - - USH-2 - PubMed: Besnard 2012 Proband F - France - - 0 - - 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; 0 - DNA SEQ - - USH-2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - 0 - - 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; 0 - DNA SEQ - - USH-2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - 0 - - 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; 0 - DNA SEQ - - USH-2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - 0 - - 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; 0 - DNA SEQ - - USH-2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - 0 - - 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; 0 - DNA SEQ - - USH-2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - 0 - - 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; 0 - DNA SEQ - - USH-2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - 0 - - 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; 0 - DNA SEQ - - USH-2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - 0 - - 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; 0 - DNA SEQ - - USH-2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - 0 - - 1 Anne-Françoise Roux
+?/. 4 c.362del r.(?) p.(Pro121Leufs*5) - Unknown - likely pathogenic g.89914907del g.90619090del - - GPR98_010005 - - - - Germline - - - 0 - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - 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 - 0 - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - 0 - - 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; 0 - DNA SEQ - - USH-2 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - 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; 0 - DNA SEQ - - USH-2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - 0 - - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 37 Mohammed Faruq
-?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 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; 0 - DNA SEQ - - USH-2 - PubMed: Besnard 2012 Proband M - France - - 0 - - 1 Anne-Françoise Roux
-?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/? 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; 0 - DNA arrayCGH, SEQ - - USH-2 - PubMed: Besnard 2012 Proband F - France - - 0 - - 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; 0 - DNA SEQ - - USH-2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - 0 - - 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; 0 - DNA SEQ - - USH-2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - 0 - - 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; 0 - DNA SEQ - - USH-2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - 0 - - 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; 0 - DNA SEQ - - USH-2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - 0 - - 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; 0 - DNA SEQ - - USH-2 - PubMed: Garcia-Garcia 2013 Proband - - Spain - - 0 - - 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.P194H) - GPR98_010030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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; 0 - DNA SEQ - - USH-1 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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 - - - 0 - DNA SEQ-NG - WGS retinal disease G005198 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - 0 - - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/? 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 - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Jiang 2015 Proband M - China - - 0 - - 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 ? - - 0 - 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 - 0 - - 1 LOVD
+/. - c.956dup r.(?) p.(Asn319LysfsTer6) - Parent #1 - pathogenic (recessive) g.89923311dup g.90627494dup - - GPR98_010718 - PubMed: Consugar 2015 - - Germline yes - - 0 - DNA SEQ-NG - 238-gene panel retinal disease OGI-277-591 PubMed: Consugar 2015 - - - United States - - 0 - - 1 LOVD
-?/. - c.1033C>A r.(?) p.(Gln345Lys) - Unknown - likely benign g.89923388C>A g.90627571C>A ADGRV1(NM_032119.4):c.1033C>A (p.Q345K) - GPR98_010034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1033C>A r.(?) p.(Gln345Lys) - Unknown - likely benign g.89923388C>A g.90627571C>A ADGRV1(NM_032119.4):c.1033C>A (p.Q345K) - GPR98_010034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1054C>A r.(?) p.(Pro352Thr) - Unknown - VUS g.89923409C>A g.90627592C>A - - GPR98_010391 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1055C>T r.(?) p.(Pro352Leu) - Unknown - VUS g.89923410C>T g.90627593C>T - - GPR98_010478 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1056G>A r.(?) p.(Pro352=) - Unknown - likely benign g.89923411G>A g.90627594G>A ADGRV1(NM_032119.4):c.1056G>A (p.P352=) - GPR98_010035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1056G>A r.(?) p.(Pro352=) - Unknown - likely benign g.89923411G>A g.90627594G>A ADGRV1(NM_032119.4):c.1056G>A (p.P352=) - GPR98_010035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1086A>G r.(?) p.(Leu362=) - Unknown - likely benign g.89923441A>G g.90627624A>G ADGRV1(NM_032119.4):c.1086A>G (p.L362=) - GPR98_010036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1086A>G r.(?) p.(Leu362=) - Unknown - likely benign g.89923441A>G g.90627624A>G ADGRV1(NM_032119.4):c.1086A>G (p.L362=) - GPR98_010036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1086A>G r.(?) p.(Leu362=) - Unknown - benign g.89923441A>G g.90627624A>G ADGRV1(NM_032119.4):c.1086A>G (p.L362=) - GPR98_010036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1131T>G r.(?) p.(Ser377=) - Unknown - likely benign g.89923486T>G g.90627669T>G ADGRV1(NM_032119.4):c.1131T>G (p.S377=) - GPR98_010037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1131T>G r.(?) p.(Ser377=) - Unknown - likely benign g.89923486T>G - ADGRV1(NM_032119.4):c.1131T>G (p.S377=) - GPR98_010037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1239-1G>A r.spl? p.? - Unknown - likely pathogenic g.89924378G>A g.90628561G>A - - GPR98_010392 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1289_1290del r.(?) p.(Ser430CysfsTer11) - Unknown - pathogenic g.89924429_89924430del g.90628612_90628613del ADGRV1(NM_032119.4):c.1289_1290delCT (p.S430Cfs*11) - GPR98_010479 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1374T>A r.(?) p.(Phe458Leu) - Unknown - VUS g.89924514T>A g.90628697T>A ADGRV1(NM_032119.4):c.1374T>A (p.F458L) - GPR98_010480 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 8 c.1380del r.(?) p.(Gln462Argfs*37) Calx-beta 4 (447-488) Unknown - pathogenic g.89924520del g.90628703del 1379delA - GPR98_000272 heterozygous; Mutation PubMed: Yang 2013 - - Germline - 0/400 controls - 0 - DNA SEQ, SEQ-NG-S - - DFN - PubMed: Yang 2013 Proband - no ophtalmologic details - - China - - 0 - - 1 Anne-Françoise Roux
-?/. - c.1464G>A r.(?) p.(Leu488=) - Unknown - likely benign g.89924604G>A - ADGRV1(NM_032119.4):c.1464G>A (p.L488=) - GPR98_010728 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1472del r.(?) p.(Thr491Lysfs*8) - Parent #1 ACMG pathogenic g.89924612del g.90628795del c.1472delC - GPR98_010670 - PubMed: Sun 2018 - - Germline - - - 0 - DNA SEQ-NG - - HL 19895 PubMed: Sun 2018 sporadic case - no China - - 0 - - 1 LOVD
+/+ 8 c.1477C>T r.(?) p.(Arg493*) - Parent #1 - pathogenic g.89924617C>T g.90628800C>T - - GPR98_000513 heterozygous; mutation PubMed: Bonnet 2016 - rs779948710 Germline - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Bonnet 2016 Proband - - France - - 0 - - 1 Crystel Bonnet
-?/. - c.1497C>T r.(?) p.(Ser499=) - Unknown - likely benign g.89924637C>T g.90628820C>T ADGRV1(NM_032119.4):c.1497C>T (p.S499=) - GPR98_010038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1505C>T r.(?) p.(Ala502Val) - Unknown - likely benign g.89924645C>T g.90628828C>T ADGRV1(NM_032119.4):c.1505C>T (p.A502V) - GPR98_010039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 8i c.1509+3A>G r.(?) p.(?) - Parent #2 - pathogenic g.89924652A>G g.90628835A>G - - GPR98_000514 heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG-S - - USH-2 - PubMed: Bonnet 2016 Proband - - France - - 0 - - 1 Crystel Bonnet
-/- 8i c.1510-51C>A r.(=) p.(=) - Paternal (inferred) - benign g.89924976C>A g.90629159C>A - - GPR98_000154 homozygous PubMed: Besnard 2012 - rs2366771 Germline - - -DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII; 0 - DNA SEQ - - USH-2 - PubMed: Besnard 2012 Proband F - France - - 0 - - 1 Anne-Françoise Roux
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