Unique variants in the GPR98 gene


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.

947 entries on 10 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     

Owner     
+/., +?/. 5 27i_33i, 78i_83i, 84i_85i c.? r.? p.? - - likely pathogenic, likely pathogenic (recessive), pathogenic (recessive) g.? - del ex85, Del. Exon 85, Del. exons 28–33, Dup. exons 79–83, ex2-50 deletion - RAD50_000000 - PubMed: Fuster-Garcia 2018, PubMed: Neuhaus 2017, PubMed: Riera 2017 - - Germline yes - - - - Global Variome, with Curator vacancy, Johan den Dunnen
-?/. 1 - c.-67A>T r.(?) p.(=) - - likely benign g.89854646A>T g.90558829A>T ADGRV1(NM_032119.4):c.-67A>T - GPR98_010009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.-47G>C r.(?) p.(=) - - likely benign g.89854666G>C g.90558849G>C ADGRV1(NM_032119.4):c.-47G>C - GPR98_010010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.13C>T r.(?) p.(Leu5=) - - likely benign g.89854725C>T - ADGRV1(NM_032119.4):c.13C>T (p.L5=) - GPR98_010645 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.22+9T>C r.(=) p.(=) - - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/- 1 1i c.22+56C>T r.(=) p.(=) - - 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; - - Maria Bitner-Glindzicz
-/? 1 1i c.22+62A>G r.(=) p.(=) - 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; - - Maria Bitner-Glindzicz
-?/. 1 - c.23-664_23-663del r.(=) p.(=) - - 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 - - - - - VKGL-NL_Utrecht
-?/. 1 - c.23-663del r.(=) p.(=) - - likely benign g.89909989del g.90614172del ADGRV1(NM_032119.4):c.23-663delA - GPR98_010012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.23-657T>A r.(=) p.(=) - - 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 - - - - - VKGL-NL_Utrecht
-/. 1 - c.23-591G>A r.(=) p.(=) - - benign g.89910061G>A g.90614244G>A ADGRV1(NM_032119.4):c.23-591G>A - GPR98_010014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.23-561A>G r.(=) p.(=) - - 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 - - - - - VKGL-NL_Utrecht
-/. 1 - c.23-526del r.(=) p.(=) - - benign g.89910126del g.90614309del ADGRV1(NM_032119.4):c.23-526delG - GPR98_010016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.23-510C>T r.(=) p.(=) - - 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 - - - - - VKGL-NL_Utrecht
-?/. 1 - c.23-160C>G r.(=) p.(=) - - 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 - - - - - VKGL-NL_Utrecht
-?/. 1 - c.23-130G>A r.(=) p.(=) - - 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 - - - - - VKGL-NL_Utrecht
-/. 1 - c.23-13C>G r.(=) p.(=) - - benign g.89910639C>G g.90614822C>G ADGRV1(NM_032119.4):c.23-13C>G - GPR98_010020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.42A>T r.(?) p.(Leu14Phe) - - 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 - - - - - VKGL-NL_Utrecht
-?/. 1 - c.87A>T r.(?) p.(Gly29=) - - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.207+3A>G r.spl? p.? - - 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 - - - - - VKGL-NL_Utrecht
-/. 1 - c.207+78del r.(=) p.(=) - - benign g.89910914del g.90615097del ADGRV1(NM_032119.4):c.207+78delT - GPR98_010022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.207+82_207+85del r.(=) p.(=) - - 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 - - - - - VKGL-NL_Utrecht
-?/. 1 - c.277A>G r.(?) p.(Asn93Asp) - - 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 - - - - - VKGL-NL_Leiden
-/-, -/. 2 3 c.327C>T r.(?) p.(=), p.(Asp109=) Calx-beta 1 (77-116) - benign g.89913740C>T g.90617923C>T ADGRV1(NM_032119.4):c.327C>T (p.D109=) - GPR98_000061, GPR98_010024 heterozygous; UV1, VKGL data sharing initiative Nederland PubMed: Le Quesne Stabej 2012 - rs61753944 CLASSIFICATION record, Germline - 2/838 controls none - - VKGL-NL_Utrecht, Maria Bitner-Glindzicz
+/+ 1 3 c.335_336del r.(?) p.(Phe112Tyrfs*29) Calx-beta 1 (77-116) - pathogenic g.89913748_89913749del g.90617931_90617932del 333_334delTT - GPR98_000018 heterozygous; Pathogenic PubMed: Bonnet 2011 - - Germline - - none - - Anne-Françoise Roux
-/. 1 - c.357+8C>T r.(=) p.(=) - - benign g.89913778C>T g.90617961C>T ADGRV1(NM_032119.4):c.357+8C>T - GPR98_010472 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.357+36del r.(=) p.(=) - - likely benign g.89913806del g.90617989del ADGRV1(NM_032119.4):c.357+36delG - GPR98_010473 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.357+41dup r.(=) p.(=) - - likely benign g.89913811dup g.90617994dup ADGRV1(NM_032119.4):c.357+41dupC - GPR98_010474 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/- 11 3i c.358-216A>G r.(=) p.(=) - - benign g.89914687A>G g.90618870A>G - - GPR98_000184 heterozygous, homozygous PubMed: Besnard 2012, PubMed: Garcia-Garcia 2013 - rs1673379 Germline - - +CviKI_1;-Tsp45I; - - Anne-Françoise Roux
+?/. 1 4 c.362del r.(?) p.(Pro121Leufs*5) - - likely pathogenic g.89914907del g.90619090del - - GPR98_010005 - - - - Germline - - - - - Gerard C.P. Schaafsma
-?/. 1 - c.363T>C r.(?) p.(Pro121=) - - 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 - - - - - VKGL-NL_Utrecht
+?/. 1 - c.376A>T r.(?) p.(Lys126*) - - likely pathogenic g.89914921A>T g.90619104A>T - - GPR98_010633 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - Global Variome, with Curator vacancy
-/-, -/. 3 4 c.380T>G r.(?) p.(Leu127Arg) - - benign g.89914925T>G g.90619108T>G - - GPR98_000090 37 heterozygous, no homozygous; Clinindb (India), heterozygous, heterozygous; UV1 PubMed: Garcia-Garcia 2013; USMA-USMA missense analysis USMA-missense variant in MSV3d, 2 more items - rs41311333 Germline - 2/90 controls, 37/2788 individuals +HindIII;+AluI;+CviKI_1; - - Anne-Françoise Roux, Maria Bitner-Glindzicz, Mohammed Faruq
-?/. 1 - c.453+8C>T r.(=) p.(=) - - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.453+23A>C r.(=) p.(=) - - 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 - - - - - VKGL-NL_Utrecht
-?/. 1 - c.454-182C>A r.(=) p.(=) - - 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 - - - - - VKGL-NL_Utrecht
-/- 1 4i c.454-80G>T r.(=) p.(=) - - benign g.89918334G>T g.90622517G>T - - GPR98_000202 heterozygous PubMed: Besnard 2012 - rs16868864 Germline - - +AluI;+CviKI_1; - - Anne-Françoise Roux
-?/. 1 - c.463A>G r.(?) p.(Ile155Val) - - likely benign g.89918423A>G - ADGRV1(NM_032119.4):c.463A>G (p.I155V) - GPR98_010646 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.466G>A r.(?) p.(Ala156Thr) - - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.477G>A r.(?) p.(Glu159=) - - 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 - - - - - VKGL-NL_Rotterdam
-?/? 1 5i c.558+63A>G r.(=) p.(=) - ACMG likely benign g.89918581A>G g.90622764A>G - - GPR98_000213 heterozygous PubMed: Besnard 2012 - - Germline - - +MnlI;-BsmAI;-HpyCH4III; - - Anne-Françoise Roux
-/-, -/? 5 5i c.558+103_558+123delinsCTCCAGG r.(=) p.(=) - - benign g.89918621_89918641delinsCTCCAGG g.90622804_90622824delinsCTCCAGG - - GPR98_000248 heterozygous; Neutral, homozygous; Neutral PubMed: Garcia-Garcia 2013 - - Germline - - +ApeKI;+BanI;+BbvI;-BfuCI;-BspCNI;-BstAPI; - - Anne-Françoise Roux
?/. 1 - c.574A>G r.(?) p.(Asn192Asp) - - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - c.581C>A r.(?) p.(Pro194His) - - 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 - - - - - VKGL-NL_Utrecht
?/. 1 - c.649A>G r.(?) p.(Asn217Asp) - - 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 - - - - - VKGL-NL_AMC
-/- 1 6i c.672+56T>C r.(=) p.(=) - - 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; - - Maria Bitner-Glindzicz
-?/. 1 - c.673-140del r.(=) p.(=) - - likely benign g.89922888del g.90627071del ADGRV1(NM_032119.4):c.673-140delA - GPR98_010031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/., -/., -?/. 4 - c.746G>A r.(?) p.(Arg249Lys) - - benign, likely benign, pathogenic (recessive) g.89923101G>A g.90627284G>A 5:89923101G>A ENST00000405460.2:c.746G>A (Arg249Lys), ADGRV1(NM_032119.4):c.746G>A (p.R249K) - GPR98_010032 VKGL data sharing initiative Nederland PubMed: Carss 2017 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 2 - c.853C>G r.(?) p.(Arg285Gly) - - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/., +?/? 2 7 c.929G>A r.(?) p.(Gly310Glu) - ACMG pathogenic, VUS 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 heterozygous; mutation PubMed: Jiang 2015; USMA-USMA missense analysis USMA-missense variant in MSV3d, PubMed: Wang 2018 - rs766790920 Germline ? - - - - Anne-Françoise Roux
+/. 1 - c.956dup r.(?) p.(Asn319LysfsTer6) - - pathogenic (recessive) g.89923311dup g.90627494dup - - GPR98_010718 - PubMed: Consugar 2015 - - Germline yes - - - - LOVD
-?/. 2 - c.1033C>A r.(?) p.(Gln345Lys) - - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.1054C>A r.(?) p.(Pro352Thr) - - VUS g.89923409C>A g.90627592C>A - - GPR98_010391 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1055C>T r.(?) p.(Pro352Leu) - - VUS g.89923410C>T g.90627593C>T - - GPR98_010478 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.1056G>A r.(?) p.(Pro352=) - - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/., -?/. 3 - c.1086A>G r.(?) p.(Leu362=) - - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 2 - c.1131T>G r.(?) p.(Ser377=) - - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+?/. 1 - c.1239-1G>A r.spl? p.? - - likely pathogenic g.89924378G>A g.90628561G>A - - GPR98_010392 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1289_1290del r.(?) p.(Ser430CysfsTer11) - - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1374T>A r.(?) p.(Phe458Leu) - - 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 - - - - - VKGL-NL_Rotterdam
+/+ 1 8 c.1380del r.(?) p.(Gln462Argfs*37) Calx-beta 4 (447-488) - pathogenic g.89924520del g.90628703del 1379delA - GPR98_000272 heterozygous; Mutation PubMed: Yang 2013 - - Germline - 0/400 controls - - - Anne-Françoise Roux
-?/. 1 - c.1464G>A r.(?) p.(Leu488=) - - likely benign g.89924604G>A - ADGRV1(NM_032119.4):c.1464G>A (p.L488=) - GPR98_010728 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1472del r.(?) p.(Thr491Lysfs*8) - ACMG pathogenic g.89924612del g.90628795del c.1472delC - GPR98_010670 - PubMed: Sun 2018 - - Germline - - - - - LOVD
+/+ 1 8 c.1477C>T r.(?) p.(Arg493*) - - pathogenic g.89924617C>T g.90628800C>T - - GPR98_000513 heterozygous; mutation PubMed: Bonnet 2016 - rs779948710 Germline - - - - - Crystel Bonnet
-?/. 1 - c.1497C>T r.(?) p.(Ser499=) - - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1505C>T r.(?) p.(Ala502Val) - - 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 - - - - - VKGL-NL_Rotterdam
+/+ 1 8i c.1509+3A>G r.(?) p.(?) - - pathogenic g.89924652A>G g.90628835A>G - - GPR98_000514 heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - Crystel Bonnet
-/- 23 8i c.1510-51C>A r.(=) p.(=) - - benign g.89924976C>A g.90629159C>A - - GPR98_000154 heterozygous, homozygous PubMed: Besnard 2012, PubMed: Garcia-Garcia 2013 - rs2366771 Germline - - -DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII; - - Anne-Françoise Roux
-/., -?/. 3 - c.1522A>C r.(?) p.(Ile508Leu) - - benign, likely benign g.89925039A>C g.90629222A>C ADGRV1(NM_032119.4):c.1522A>C (p.I508L) - GPR98_010040 5 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs61744480 CLASSIFICATION record, Germline - 5/2794 individuals - - - VKGL-NL_Utrecht, VKGL-NL_AMC, Mohammed Faruq
?/. 1 - c.1526A>G r.(?) p.(Gln509Arg) - - VUS g.89925043A>G g.90629226A>G ADGRV1(NM_032119.4):c.1526A>G (p.Q509R) - GPR98_010415 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1532G>A r.(?) p.(Ser511Asn) - - VUS g.89925049G>A g.90629232G>A ADGRV1(NM_032119.4):c.1532G>A (p.S511N) - GPR98_010481 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 9 c.1563del r.(?) p.(Pro522Leufs*18) - ACMG pathogenic (recessive) g.89925080del - - - GPR98_010704 Parents unavailable for testing. Bahena et al., 2021 (submitted) - - Germline yes - - - - Barbara Vona
+/+ 1 9 c.1563dup r.(?) p.(Pro522Serfs*8) - - pathogenic g.89925080dup g.90629263dup - - GPR98_000016 heterozygous; Pathogenic PubMed: Bonnet 2011 - - Germline - - none - - Anne-Françoise Roux
?/. 1 - c.1578G>T r.(?) p.(Gln526His) - - VUS g.89925095G>T g.90629278G>T GPR98(NM_032119.3):c.1578G>T (p.(Gln526His)) - GPR98_010041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+, +/. 3 9 c.1608C>G r.(?) p.(Tyr536*) - ACMG pathogenic g.89925125C>G g.90629308C>G - - GPR98_000528 homozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - Crystel Bonnet, Anju Shukla
-/. 2 - c.1652T>C r.(?) p.(Val551Ala) - - benign g.89925169T>C g.90629352T>C ADGRV1(NM_032119.4):c.1652T>C (p.V551A) - GPR98_010042 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs6889939 CLASSIFICATION record, Germline - 1/2795 individuals - - - VKGL-NL_Utrecht, Mohammed Faruq
+/+ 1 9 c.1701del r.(?) p.(Leu568Cysfs*8) - - pathogenic g.89925218del g.90629401del - - GPR98_000533 heterozygous; mutation PubMed: Bonnet 2016 - - Germline - - - - - Crystel Bonnet
+?/., +?/?, ?/. 4 - c.1718G>T r.(?) p.(Gly573Val) - ACMG likely pathogenic, VUS g.89925235G>T g.90629418G>T ADGRV1(NM_032119.4):c.1718G>T (p.G573V) - GPR98_010000 GPR98 only described for Usher, further studies needed, VKGL data sharing initiative Nederland PubMed: Sharon 2019 - - CLASSIFICATION record, Germline, Unknown ? 1/2420 IRD families - - - Global Variome, with Curator vacancy, Marcel Nelen, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/., -?/., ?/. 3 - c.1776C>A r.(?) p.(Val592=) - - benign, likely benign, VUS g.89925293C>A g.90629476C>A ADGRV1(NM_032119.4):c.1776C>A (p.V592=) - GPR98_010043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.1799A>G r.(?) p.(Asn600Ser) - - VUS g.89925316A>G - ADGRV1(NM_032119.4):c.1799A>G (p.N600S) - GPR98_010671 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 3 9 c.1804G>A r.(?) p.(Ala602Thr) - - VUS g.89925321G>A g.90629504G>A ADGRV1(NM_032119.4):c.1804G>A (p.A602T), G1804A - GPR98_010044 VKGL data sharing initiative Nederland PubMed: Katagiri 2014 - rs201015784 CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1817A>C r.(?) p.(Asn606Thr) - - likely benign g.89925334A>C g.90629517A>C ADGRV1(NM_032119.4):c.1817A>C (p.N606T) - GPR98_010045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 3 - c.1837C>A r.(?) p.(Gln613Lys) - - likely benign g.89925354C>A g.90629537C>A ADGRV1(NM_032119.4):c.1837C>A (p.Q613K) - GPR98_010046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 2 - c.1839+7G>A r.(=) p.(=) - - benign g.89925363G>A g.90629546G>A ADGRV1(NM_032119.4):c.1839+7G>A - GPR98_010047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-/- 1 9i c.1839+32G>A r.(=) p.(=) - - benign g.89925388G>A g.90629571G>A - - GPR98_000069 heterozygous; pathogenicity not assessed PubMed: Le Quesne Stabej 2012 - rs77472411 Germline - 0/96 controls none - - Maria Bitner-Glindzicz
-/- 7 9i c.1839+54C>T r.(=) p.(=) - - benign g.89925410C>T g.90629593C>T - - GPR98_000209 heterozygous, homozygous PubMed: Besnard 2012, PubMed: Garcia-Garcia 2013 - rs56360530 Germline - - none - - Anne-Françoise Roux
-?/. 1 - c.1839+108T>G r.(=) p.(=) - - likely benign g.89925464T>G g.90629647T>G ADGRV1(NM_032119.4):c.1839+108T>G - GPR98_010048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/?, ?/. 3 10 c.1849G>A r.(?) p.(Val617Met) - ACMG likely benign, VUS g.89930940G>A g.90635123G>A ADGRV1(NM_032119.4):c.1849G>A (p.V617M) - GPR98_000045 heterozygous; UV1, VKGL data sharing initiative Nederland PubMed: Le Quesne Stabej 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - - CLASSIFICATION record, Germline - 0/96 controls -HpyCH4III - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, Maria Bitner-Glindzicz
+?/. 1 - c.1892del r.(?) p.(Pro631Leufs*62) - - likely pathogenic (recessive) g.89930983del g.90635166del c.1892delC - GPR98_010634 - PubMed: Fuster-Garcia 2018 - - Germline - - - - - Global Variome, with Curator vacancy
+?/. 1 - c.1923_1933delinsG r.(?) p.(Leu642Glnfs*48) - - likely pathogenic g.89931014_89931024delinsG g.90635197_90635207delinsG 1923_1933delACTGGTTACTCinsG - GPR98_010690 - PubMed: Stone 2017 - - Germline - - - - - LOVD
+/. 1 - c.1953_1954del r.(?) p.(Glu651AspfsTer13) - - pathogenic g.89931044_89931045del g.90635227_90635228del ADGRV1(NM_032119.4):c.1953_1954delAA (p.E651Dfs*13) - GPR98_010049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/- 5 10i c.2016+53del r.(=) p.(=) - - benign g.89931160del g.90635343del - - GPR98_000185 heterozygous, homozygous PubMed: Besnard 2012, PubMed: Garcia-Garcia 2013 - rs3838659 Germline - - -BsrGI - - Anne-Françoise Roux
-?/. 1 - c.2016+62T>A r.(=) p.(=) - - likely benign g.89931169T>A g.90635352T>A ADGRV1(NM_032119.4):c.2016+62T>A - GPR98_010050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2016+62T>C r.(=) p.(=) - - likely benign g.89931169T>C g.90635352T>C ADGRV1(NM_032119.4):c.2016+62T>C - GPR98_010051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2016+135C>T r.(=) p.(=) - - likely benign g.89931242C>T g.90635425C>T ADGRV1(NM_032119.4):c.2016+135C>T - GPR98_010052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2016+155T>G r.(=) p.(=) - - likely benign g.89931262T>G g.90635445T>G ADGRV1(NM_032119.4):c.2016+155T>G - GPR98_010053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2017-80A>G r.(=) p.(=) - - likely benign g.89933462A>G g.90637645A>G ADGRV1(NM_032119.4):c.2017-80A>G - GPR98_010416 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.2043A>G r.(?) p.(Gly681=) - - benign g.89933568A>G g.90637751A>G ADGRV1(NM_032119.4):c.2043A>G (p.G681=) - GPR98_010054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2045C>G r.(?) p.(Thr682Ser) - - VUS g.89933570C>G g.90637753C>G ADGRV1(NM_032119.4):c.2045C>G (p.T682S) - GPR98_010482 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2112G>A r.(?) p.(Pro704=) - - likely benign g.89933637G>A - ADGRV1(NM_032119.4):c.2112G>A (p.P704=) - GPR98_010483 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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