NM_032119.4(ADGRV1):c.8266G>A (p.Gly2756Arg) |
single nucleotide variant |
not provided [RCV000766597]|not specified [RCV000523758] |
Chr5:90703775 [GRCh38] Chr5:89999592 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17137del (p.Ala5713fs) |
deletion |
Usher syndrome, type IIC, GPR98/PDZD7 digenic [RCV000023211] |
Chr5:90848754 [GRCh38] Chr5:90144571 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.8713_8716dup (p.Ile2906fs) |
duplication |
Usher syndrome type 2C [RCV000007201] |
Chr5:90706376..90706377 [GRCh38] Chr5:90002193..90002194 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.8790del (p.Met2931fs) |
deletion |
Usher syndrome type 2C [RCV000007202] |
Chr5:90708874 [GRCh38] Chr5:90004691 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.18732_18750del (p.Gly6243_Tyr6244insTer) |
deletion |
Usher syndrome type 2C [RCV000007203]|not provided [RCV001381664] |
Chr5:91153324..91153342 [GRCh38] Chr5:90449141..90449159 [GRCh37] Chr5:5q14.3 |
pathogenic |
NG_007083.1:g.371658_507674del |
deletion |
Usher syndrome type 2C [RCV000007205] |
Chr5:90925457..91061473 [GRCh38] Chr5:90221274..90357290 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.2258_2270del (p.Gln753fs) |
deletion |
Usher syndrome type 2C [RCV000007206] |
Chr5:90642652..90642664 [GRCh38] Chr5:89938469..89938481 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.5357_5358del (p.Lys1786fs) |
deletion |
Usher syndrome type 2C [RCV000007207] |
Chr5:90676122..90676123 [GRCh38] Chr5:89971939..89971940 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.12829C>T (p.Arg4277Ter) |
single nucleotide variant |
Usher syndrome type 2C [RCV001544531] |
Chr5:90778589 [GRCh38] Chr5:90074406 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.7413C>A (p.Ser2471Arg) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV000735237] |
Chr5:90694169 [GRCh38] Chr5:89989986 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2735-8T>C |
single nucleotide variant |
not provided [RCV000729915] |
Chr5:90644698 [GRCh38] Chr5:89940515 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.1254A>G (p.Thr418=) |
single nucleotide variant |
not provided [RCV000727888] |
Chr5:90628577 [GRCh38] Chr5:89924394 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14602A>G (p.Ile4868Val) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV000735238] |
Chr5:90802823 [GRCh38] Chr5:90098640 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6884C>T (p.Ala2295Val) |
single nucleotide variant |
not provided [RCV000728666] |
Chr5:90690974 [GRCh38] Chr5:89986791 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14028C>G (p.Thr4676=) |
single nucleotide variant |
not provided [RCV000729428] |
Chr5:90789836 [GRCh38] Chr5:90085653 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13437A>G (p.Glu4479=) |
single nucleotide variant |
not provided [RCV002166793] |
Chr5:90783841 [GRCh38] Chr5:90079658 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15736C>T (p.Arg5246Ter) |
single nucleotide variant |
Usher syndrome type 2C [RCV000132686]|not provided [RCV001849953] |
Chr5:90810996 [GRCh38] Chr5:90106813 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000844604]|Usher syndrome type 2C [RCV000132687]|not provided [RCV001849954] |
Chr5:90692659 [GRCh38] Chr5:89988476 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.13228G>A (p.Glu4410Lys) |
single nucleotide variant |
not provided [RCV000766598]|not specified [RCV000520610] |
Chr5:90781575 [GRCh38] Chr5:90077392 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.3955C>T (p.Arg1319Trp) |
single nucleotide variant |
not provided [RCV001348166] |
Chr5:90653529 [GRCh38] Chr5:89949346 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.8495C>A (p.Ser2832Ter) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV000007199] |
Chr5:90705508 [GRCh38] Chr5:90001325 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000844603]|Usher syndrome [RCV000505021]|Usher syndrome type 2C [RCV000007200]|Usher syndrome type 2C [RCV000763550]|not provided [RCV000727026] |
Chr5:90690991 [GRCh38] Chr5:89986808 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.18131A>G (p.Tyr6044Cys) |
single nucleotide variant |
Usher syndrome type 2C [RCV000007204] |
Chr5:90985501 [GRCh38] Chr5:90281318 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151340]|Usher syndrome type 2C [RCV002483173]|not provided [RCV000488366]|not specified [RCV000155106] |
Chr5:90658033 [GRCh38] Chr5:89953850 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.3(ADGRV1):c.10550-2126G>T |
single nucleotide variant |
Lung cancer [RCV000096300] |
Chr5:90742920 [GRCh38] Chr5:90038737 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.3(ADGRV1):c.18152+11553A>T |
single nucleotide variant |
Lung cancer [RCV000096301] |
Chr5:90997075 [GRCh38] Chr5:90292892 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10039T>C (p.Phe3347Leu) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152993]|not provided [RCV000710418]|not specified [RCV000039500] |
Chr5:90725218 [GRCh38] Chr5:90021035 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.10229_10231dup (p.Val3410dup) |
duplication |
Rare genetic deafness [RCV000039501] |
Chr5:90728734..90728735 [GRCh38] Chr5:90024551..90024552 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152997]|not provided [RCV000724542]|not specified [RCV000039502] |
Chr5:90728767 [GRCh38] Chr5:90024584 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.10339G>A (p.Glu3447Lys) |
single nucleotide variant |
not provided [RCV000909717]|not specified [RCV000039503] |
Chr5:90728846 [GRCh38] Chr5:90024663 [GRCh37] Chr5:5q14.3 |
benign|likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155642]|not provided [RCV000710419]|not specified [RCV000039504] |
Chr5:90728918 [GRCh38] Chr5:90024735 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155647]|not provided [RCV000086991]|not specified [RCV000039505] |
Chr5:90745073 [GRCh38] Chr5:90040890 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
NM_032119.4(ADGRV1):c.10607G>A (p.Arg3536His) |
single nucleotide variant |
not provided [RCV000905369]|not specified [RCV000039506] |
Chr5:90745103 [GRCh38] Chr5:90040920 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.10769+9A>G |
single nucleotide variant |
Usher syndrome type 2C [RCV001157309]|not provided [RCV000514739]|not specified [RCV000039507] |
Chr5:90745274 [GRCh38] Chr5:90041091 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.10872A>G (p.Gln3624=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157311]|not provided [RCV000086992]|not specified [RCV000039508] |
Chr5:90745693 [GRCh38] Chr5:90041510 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
NM_032119.4(ADGRV1):c.11031C>T (p.Asn3677=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157313]|not provided [RCV000973369]|not specified [RCV000039509] |
Chr5:90750607 [GRCh38] Chr5:90046424 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.11253C>G (p.Tyr3751Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000039510] |
Chr5:90753705 [GRCh38] Chr5:90049522 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.11472G>A (p.Leu3824=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151866]|not provided [RCV000710421]|not specified [RCV000039511] |
Chr5:90755077 [GRCh38] Chr5:90050894 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.11581-3dup |
duplication |
not provided [RCV001516999]|not specified [RCV000039512] |
Chr5:90756446..90756447 [GRCh38] Chr5:90052263..90052264 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.11599G>A (p.Glu3867Lys) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151870]|not provided [RCV001517000]|not specified [RCV000039513] |
Chr5:90756472 [GRCh38] Chr5:90052289 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.11682C>T (p.Pro3894=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151871]|not provided [RCV000710423]|not specified [RCV000039514] |
Chr5:90756555 [GRCh38] Chr5:90052372 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155716]|not provided [RCV000419837]|not specified [RCV000039515] |
Chr5:90763453 [GRCh38] Chr5:90059270 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.12476A>C (p.His4159Pro) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157416]|not provided [RCV000888279]|not specified [RCV000039516] |
Chr5:90776525 [GRCh38] Chr5:90072342 [GRCh37] Chr5:5q14.3 |
benign|likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12586C>T (p.Pro4196Ser) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157422]|not provided [RCV001042748]|not specified [RCV000039517] |
Chr5:90777963 [GRCh38] Chr5:90073780 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12592G>A (p.Val4198Met) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151947]|not provided [RCV000224813]|not specified [RCV000039518] |
Chr5:90777969 [GRCh38] Chr5:90073786 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.12637G>A (p.Glu4213Lys) |
single nucleotide variant |
not specified [RCV000039519] |
Chr5:90778014 [GRCh38] Chr5:90073831 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12927G>A (p.Ala4309=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151952]|not provided [RCV001515559]|not specified [RCV000039520] |
Chr5:90778942 [GRCh38] Chr5:90074759 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.13037C>T (p.Pro4346Leu) |
single nucleotide variant |
Usher syndrome type 2C [RCV002477112]|not provided [RCV000968058]|not specified [RCV000039521] |
Chr5:90779052 [GRCh38] Chr5:90074869 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.13232-7A>G |
single nucleotide variant |
not provided [RCV000956294]|not specified [RCV000039522] |
Chr5:90783117 [GRCh38] Chr5:90078934 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.13590C>T (p.Pro4530=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153222]|not provided [RCV001513632]|not specified [RCV000039523] |
Chr5:90783994 [GRCh38] Chr5:90079811 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153223]|Usher syndrome type 2C [RCV002490541]|not provided [RCV001518280]|not specified [RCV000039524] |
Chr5:90784003 [GRCh38] Chr5:90079820 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157520]|not provided [RCV000710430]|not specified [RCV000039525] |
Chr5:90789837 [GRCh38] Chr5:90085654 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157523]|not provided [RCV000710431]|not specified [RCV000039526] |
Chr5:90791138 [GRCh38] Chr5:90086955 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152055]|not provided [RCV000710432]|not specified [RCV000039527] |
Chr5:90791344 [GRCh38] Chr5:90087161 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.1464G>A (p.Leu488=) |
single nucleotide variant |
not specified [RCV000039528] |
Chr5:90628787 [GRCh38] Chr5:89924604 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14654A>G (p.Asn4885Ser) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152056]|not provided [RCV000892572]|not specified [RCV000039529] |
Chr5:90802875 [GRCh38] Chr5:90098692 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.14905T>C (p.Trp4969Arg) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152058]|not provided [RCV000710433]|not specified [RCV000039530] |
Chr5:90807670 [GRCh38] Chr5:90103487 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.14973-2A>G |
single nucleotide variant |
Rare genetic deafness [RCV000039531]|Retinal dystrophy [RCV001073981]|Usher syndrome [RCV003155052]|Usher syndrome type 2 [RCV001002859]|not provided [RCV001041197] |
Chr5:90810231 [GRCh38] Chr5:90106048 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.1505C>T (p.Ala502Val) |
single nucleotide variant |
not provided [RCV002513547]|not specified [RCV000039532] |
Chr5:90628828 [GRCh38] Chr5:89924645 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15076C>T (p.His5026Tyr) |
single nucleotide variant |
not specified [RCV000039533] |
Chr5:90810336 [GRCh38] Chr5:90106153 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1509+11T>C |
single nucleotide variant |
not specified [RCV000039534] |
Chr5:90628843 [GRCh38] Chr5:89924660 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=) |
single nucleotide variant |
Retinal dystrophy [RCV001074477]|Usher syndrome type 2C [RCV001153321]|not provided [RCV000909162]|not specified [RCV000039535] |
Chr5:90810731 [GRCh38] Chr5:90106548 [GRCh37] Chr5:5q14.3 |
benign|likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002513548]|Usher syndrome type 2C [RCV001155929]|not provided [RCV000724510]|not specified [RCV000039536] |
Chr5:90810868 [GRCh38] Chr5:90106685 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.15786C>T (p.Phe5262=) |
single nucleotide variant |
not provided [RCV000725984]|not specified [RCV000039537] |
Chr5:90811046 [GRCh38] Chr5:90106863 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155933]|not provided [RCV001518179]|not specified [RCV000039538] |
Chr5:90811291 [GRCh38] Chr5:90107108 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.16164A>G (p.Arg5388=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157631]|not provided [RCV001512218]|not specified [RCV000039539] |
Chr5:90815704 [GRCh38] Chr5:90111521 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.16248C>T (p.Val5416=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157632]|not provided [RCV000710435]|not specified [RCV000039540] |
Chr5:90823476 [GRCh38] Chr5:90119293 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157633]|not provided [RCV001518180]|not specified [RCV000039541] |
Chr5:90823507 [GRCh38] Chr5:90119324 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156569]|Usher syndrome type 2C [RCV002496629]|not provided [RCV000224862]|not specified [RCV000039542] |
Chr5:90629352 [GRCh38] Chr5:89925169 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.16841C>T (p.Thr5614Ile) |
single nucleotide variant |
Usher syndrome type 2C [RCV002490542]|not provided [RCV000949285]|not specified [RCV000039543] |
Chr5:90840807 [GRCh38] Chr5:90136624 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152172]|not provided [RCV000428857]|not specified [RCV000039544] |
Chr5:90840983 [GRCh38] Chr5:90136800 [GRCh37] Chr5:5q14.3 |
benign|likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.1711A>G (p.Lys571Glu) |
single nucleotide variant |
not specified [RCV000039545] |
Chr5:90629411 [GRCh38] Chr5:89925228 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001839409]|Usher syndrome type 2 [RCV001002855]|Usher syndrome type 2C [RCV001152886]|not provided [RCV000513285]|not specified [RCV000039546] |
Chr5:90629418 [GRCh38] Chr5:89925235 [GRCh37] Chr5:5q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile) |
single nucleotide variant |
Usher syndrome type 2C [RCV000987543]|not provided [RCV001509777]|not specified [RCV000039547] |
Chr5:90855772 [GRCh38] Chr5:90151589 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.17662del (p.Ser5888fs) |
deletion |
Rare genetic deafness [RCV000039548] |
Chr5:90855807 [GRCh38] Chr5:90151624 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152887]|not provided [RCV000725953]|not specified [RCV000039549] |
Chr5:90629476 [GRCh38] Chr5:89925293 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.17856+11G>A |
single nucleotide variant |
Usher syndrome type 2C [RCV001156036]|not provided [RCV001523052]|not specified [RCV000039550] |
Chr5:90863868 [GRCh38] Chr5:90159685 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.17920G>T (p.Ala5974Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002513549]|not provided [RCV000732044]|not specified [RCV000039551] |
Chr5:90965478 [GRCh38] Chr5:90261295 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1817A>C (p.Asn606Thr) |
single nucleotide variant |
Usher syndrome type 2C [RCV002496630]|not provided [RCV000224293]|not specified [RCV000039552] |
Chr5:90629517 [GRCh38] Chr5:89925334 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.1839+7G>A |
single nucleotide variant |
Usher syndrome type 2C [RCV001152889]|not provided [RCV000514703]|not specified [RCV000039553] |
Chr5:90629546 [GRCh38] Chr5:89925363 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152266]|not provided [RCV001518181]|not specified [RCV000039554] |
Chr5:91150072 [GRCh38] Chr5:90445889 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.18625-7T>C |
single nucleotide variant |
Usher syndrome type 2C [RCV001152272]|not provided [RCV001518182]|not specified [RCV000039555] |
Chr5:91153214 [GRCh38] Chr5:90449031 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153545]|Usher syndrome type 2C [RCV002490543]|not provided [RCV001518281]|not specified [RCV000039556] |
Chr5:91153337 [GRCh38] Chr5:90449154 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.18746T>G (p.Leu6249Arg) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153546]|not provided [RCV000903077]|not specified [RCV000039557] |
Chr5:91153342 [GRCh38] Chr5:90449159 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.18775G>T (p.Asp6259Tyr) |
single nucleotide variant |
not provided [RCV001212458]|not specified [RCV000039558] |
Chr5:91153371 [GRCh38] Chr5:90449188 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18803-13A>G |
single nucleotide variant |
Usher syndrome type 2C [RCV001153548]|not provided [RCV001523245]|not specified [RCV000039559] |
Chr5:91163769 [GRCh38] Chr5:90459586 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.2001T>C (p.Asp667=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154169]|not provided [RCV000710440]|not specified [RCV000039560] |
Chr5:90635275 [GRCh38] Chr5:89931092 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.2367+8C>T |
single nucleotide variant |
Usher syndrome type 2C [RCV001155007]|not provided [RCV001515551]|not specified [RCV000039561] |
Chr5:90642770 [GRCh38] Chr5:89938587 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000039562]|Usher syndrome type 2C [RCV000763549]|not provided [RCV001582516] |
Chr5:90642886 [GRCh38] Chr5:89938703 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.2553+11T>A |
single nucleotide variant |
Usher syndrome type 2C [RCV001155011]|not provided [RCV001513209]|not specified [RCV000039563] |
Chr5:90643052 [GRCh38] Chr5:89938869 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.2735-10C>A |
single nucleotide variant |
Usher syndrome type 2C [RCV001156667]|not provided [RCV000423726]|not specified [RCV000039564] |
Chr5:90644696 [GRCh38] Chr5:89940513 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.3141A>G (p.Ala1047=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151209]|not provided [RCV001516997]|not specified [RCV000039566] |
Chr5:90647616 [GRCh38] Chr5:89943433 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV000146076]|Usher syndrome type 2C [RCV001151210]|not provided [RCV000954913]|not specified [RCV000039567] |
Chr5:90647626 [GRCh38] Chr5:89943443 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV000146077]|Retinitis pigmentosa [RCV003389449]|Usher syndrome type 2C [RCV001151213]|not provided [RCV000954914]|not specified [RCV000039568] |
Chr5:90647666 [GRCh38] Chr5:89943483 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154282]|not provided [RCV001515552]|not specified [RCV000039569] |
Chr5:90647754 [GRCh38] Chr5:89943571 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152782]|Usher syndrome type 2C [RCV002490544]|not provided [RCV000710445]|not specified [RCV000039570] |
Chr5:90617923 [GRCh38] Chr5:89913740 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.3303A>G (p.Val1101=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154285]|not provided [RCV000827847]|not specified [RCV000039571] |
Chr5:90651617 [GRCh38] Chr5:89947434 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) |
single nucleotide variant |
Retinal dystrophy [RCV001075536]|Usher syndrome [RCV000504767]|Usher syndrome type 2C [RCV001154289]|not provided [RCV000710447]|not specified [RCV000039572] |
Chr5:90652372 [GRCh38] Chr5:89948189 [GRCh37] Chr5:5q14.3 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155117]|Usher syndrome type 2C [RCV002496631]|not provided [RCV000956293]|not specified [RCV000039573] |
Chr5:90652411 [GRCh38] Chr5:89948228 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys) |
single nucleotide variant |
Usher syndrome type 2C [RCV000764614]|Usher syndrome type 2C [RCV001155118]|not provided [RCV000514418]|not specified [RCV000039574] |
Chr5:90652438 [GRCh38] Chr5:89948255 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155119]|not provided [RCV000513766]|not specified [RCV000039575] |
Chr5:90652488 [GRCh38] Chr5:89948305 [GRCh37] Chr5:5q14.3 |
benign|likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3775T>A (p.Ser1259Thr) |
single nucleotide variant |
Usher syndrome type 2C [RCV000764615]|not provided [RCV001852825]|not specified [RCV000039576] |
Chr5:90653349 [GRCh38] Chr5:89949166 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.380T>G (p.Leu127Arg) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154048]|not provided [RCV000710069]|not specified [RCV000039577] |
Chr5:90619108 [GRCh38] Chr5:89914925 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.4032C>T (p.Tyr1344=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156784]|not provided [RCV000723656]|not specified [RCV000039578] |
Chr5:90653606 [GRCh38] Chr5:89949423 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.4094C>A (p.Ala1365Asp) |
single nucleotide variant |
not specified [RCV000039579] |
Chr5:90653668 [GRCh38] Chr5:89949485 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4119G>A (p.Ala1373=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156786]|not provided [RCV000902347]|not specified [RCV000039580] |
Chr5:90653693 [GRCh38] Chr5:89949510 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151335]|not provided [RCV000723975]|not specified [RCV000039581] |
Chr5:90653788 [GRCh38] Chr5:89949605 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151336]|Usher syndrome type 2C [RCV002496632]|not provided [RCV000710448]|not specified [RCV000039582] |
Chr5:90653828 [GRCh38] Chr5:89949645 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.4260A>G (p.Glu1420=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151337]|not provided [RCV000973870]|not specified [RCV000039583] |
Chr5:90653834 [GRCh38] Chr5:89949651 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.4349A>G (p.Lys1450Arg) |
single nucleotide variant |
not provided [RCV001323987]|not specified [RCV000039584] |
Chr5:90653923 [GRCh38] Chr5:89949740 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151339]|Usher syndrome type 2C [RCV002483006]|not provided [RCV000086995]|not specified [RCV000039585] |
Chr5:90658032 [GRCh38] Chr5:89953849 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
NM_032119.4(ADGRV1):c.463A>G (p.Ile155Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154050]|not provided [RCV001516861]|not specified [RCV000039586] |
Chr5:90622606 [GRCh38] Chr5:89918423 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154381]|not provided [RCV000710450]|not specified [RCV000039587] |
Chr5:90674063 [GRCh38] Chr5:89969880 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.5110+13T>C |
single nucleotide variant |
not specified [RCV000039588] |
Chr5:90674247 [GRCh38] Chr5:89970064 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155220]|not provided [RCV000728019]|not specified [RCV000039589] |
Chr5:90675353 [GRCh38] Chr5:89971170 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.5304G>A (p.Glu1768=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155224]|not provided [RCV000710451]|not specified [RCV000039590] |
Chr5:90675436 [GRCh38] Chr5:89971253 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.5346A>G (p.Gly1782=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155226]|not provided [RCV000710452]|not specified [RCV000039591] |
Chr5:90676112 [GRCh38] Chr5:89971929 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.5524+15C>T |
single nucleotide variant |
not provided [RCV002054768]|not specified [RCV000039592] |
Chr5:90679644 [GRCh38] Chr5:89975461 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5525-7C>T |
single nucleotide variant |
Usher syndrome type 2C [RCV001156879]|Usher syndrome type 2C [RCV002477113]|not provided [RCV000086996]|not specified [RCV000039593] |
Chr5:90681308 [GRCh38] Chr5:89977125 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
NM_032119.4(ADGRV1):c.5576A>G (p.His1859Arg) |
single nucleotide variant |
Usher syndrome type 2C [RCV000765842]|not provided [RCV001423929]|not specified [RCV000039594] |
Chr5:90681366 [GRCh38] Chr5:89977183 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151456]|not provided [RCV000086997]|not specified [RCV000039595] |
Chr5:90683701 [GRCh38] Chr5:89979518 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151458]|not provided [RCV000723976]|not specified [RCV000039596] |
Chr5:90683706 [GRCh38] Chr5:89979523 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154051]|Usher syndrome type 2C [RCV002483007]|not provided [RCV000710453]|not specified [RCV000039597] |
Chr5:90625152 [GRCh38] Chr5:89920969 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) |
single nucleotide variant |
Usher syndrome type 2C [RCV000987535]|not provided [RCV000436446]|not specified [RCV000039598] |
Chr5:90683751 [GRCh38] Chr5:89979568 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151460]|not provided [RCV001515553]|not specified [RCV000039599] |
Chr5:90683772 [GRCh38] Chr5:89979589 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151461]|not provided [RCV001515554]|not specified [RCV000039600] |
Chr5:90683874 [GRCh38] Chr5:89979691 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154481]|Usher syndrome type 2C [RCV002477114]|not provided [RCV001509771]|not specified [RCV000039601] |
Chr5:90683881 [GRCh38] Chr5:89979698 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154482]|not provided [RCV001515555]|not specified [RCV000039602] |
Chr5:90683933 [GRCh38] Chr5:89979750 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val) |
single nucleotide variant |
not provided [RCV000514078]|not specified [RCV000039603] |
Chr5:90684016 [GRCh38] Chr5:89979833 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV000146082]|Usher syndrome type 2C [RCV000987536]|not provided [RCV000442158]|not specified [RCV000039604] |
Chr5:90684054 [GRCh38] Chr5:89979871 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.6242C>G (p.Ser2081Cys) |
single nucleotide variant |
not provided [RCV001366393]|not specified [RCV000039605] |
Chr5:90684163 [GRCh38] Chr5:89979980 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.6289C>T (p.Arg2097Cys) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155312]|not provided [RCV001509772]|not specified [RCV000039606] |
Chr5:90685794 [GRCh38] Chr5:89981611 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155314]|not provided [RCV000903694]|not specified [RCV000039607] |
Chr5:90685822 [GRCh38] Chr5:89981639 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155315]|Usher syndrome type 2C [RCV002490545]|not provided [RCV000710454]|not specified [RCV000039608] |
Chr5:90685823 [GRCh38] Chr5:89981640 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002513551]|not provided [RCV000724387]|not specified [RCV000039609] |
Chr5:90685948 [GRCh38] Chr5:89981765 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156988]|not provided [RCV000585498]|not specified [RCV000039610] |
Chr5:90689978 [GRCh38] Chr5:89985795 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.6676G>A (p.Glu2226Lys) |
single nucleotide variant |
not specified [RCV000039611] |
Chr5:90690046 [GRCh38] Chr5:89985863 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6695A>G (p.Tyr2232Cys) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156989]|Usher syndrome type 2C [RCV002496633]|not provided [RCV001509773]|not specified [RCV000039612] |
Chr5:90690065 [GRCh38] Chr5:89985882 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.690A>C (p.Glu230Asp) |
single nucleotide variant |
not specified [RCV000039613] |
Chr5:90627228 [GRCh38] Chr5:89923045 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.6952-10G>A |
single nucleotide variant |
Usher syndrome type 2C [RCV001151572]|Usher syndrome type 2C [RCV002477115]|not provided [RCV001509774]|not specified [RCV000039614] |
Chr5:90692595 [GRCh38] Chr5:89988412 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) |
single nucleotide variant |
Usher syndrome type 2C [RCV000987537]|not provided [RCV000725221]|not specified [RCV000039615] |
Chr5:90692647 [GRCh38] Chr5:89988464 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.7034A>G (p.Asn2345Ser) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151574]|Usher syndrome type 2C [RCV002496634]|not provided [RCV001509775]|not specified [RCV000039616] |
Chr5:90692687 [GRCh38] Chr5:89988504 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151575]|Usher syndrome type 2C [RCV002496635]|not provided [RCV000224147]|not specified [RCV000039617] |
Chr5:90692732 [GRCh38] Chr5:89988549 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.7150C>T (p.Arg2384Trp) |
single nucleotide variant |
not provided [RCV000756976]|not specified [RCV000039618] |
Chr5:90693906 [GRCh38] Chr5:89989723 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=) |
single nucleotide variant |
Inborn genetic diseases [RCV003258658]|Usher syndrome type 2C [RCV001154581]|not provided [RCV000958817]|not specified [RCV000039619] |
Chr5:90693932 [GRCh38] Chr5:89989749 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154582]|not provided [RCV000710455]|not specified [RCV000039620] |
Chr5:90693935 [GRCh38] Chr5:89989752 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154583]|Usher syndrome type 2C [RCV002477116]|not provided [RCV000710456]|not specified [RCV000039621] |
Chr5:90693962 [GRCh38] Chr5:89989779 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154584]|Usher syndrome type 2C [RCV002504907]|not provided [RCV000710457]|not specified [RCV000039622] |
Chr5:90693985 [GRCh38] Chr5:89989802 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154586]|not provided [RCV000710458]|not specified [RCV000039623] |
Chr5:90694040 [GRCh38] Chr5:89989857 [GRCh37] Chr5:5q14.3 |
benign|likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154587]|Usher syndrome type 2C [RCV002490546]|not provided [RCV000710459]|not specified [RCV000039624] |
Chr5:90694049 [GRCh38] Chr5:89989866 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.7294G>A (p.Val2432Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002513552]|not provided [RCV001297121]|not specified [RCV000039625] |
Chr5:90694050 [GRCh38] Chr5:89989867 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.7374_7375del (p.Glu2459fs) |
deletion |
Rare genetic deafness [RCV000039626] |
Chr5:90694130..90694131 [GRCh38] Chr5:89989947..89989948 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.7406G>A (p.Trp2469Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000039627] |
Chr5:90694162 [GRCh38] Chr5:89989979 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.7452A>T (p.Lys2484Asn) |
single nucleotide variant |
not specified [RCV000039628] |
Chr5:90694208 [GRCh38] Chr5:89990025 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7468G>A (p.Ala2490Thr) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV001330110]|Inborn genetic diseases [RCV002513553]|Usher syndrome type 2C [RCV001155420]|Usher syndrome type 2C [RCV002483008]|not provided [RCV001057194]|not specified [RCV000039629] |
Chr5:90694224 [GRCh38] Chr5:89990041 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) |
single nucleotide variant |
Usher syndrome [RCV000504660]|Usher syndrome type 2C [RCV001154055]|not provided [RCV000430094]|not specified [RCV000039630] |
Chr5:90627284 [GRCh38] Chr5:89923101 [GRCh37] Chr5:5q14.3 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_032119.4(ADGRV1):c.7569A>G (p.Thr2523=) |
single nucleotide variant |
not provided [RCV000726325]|not specified [RCV000039631] |
Chr5:90694325 [GRCh38] Chr5:89990142 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.7576A>G (p.Ile2526Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155422]|not provided [RCV000710460]|not specified [RCV000039632] |
Chr5:90694332 [GRCh38] Chr5:89990149 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser) |
single nucleotide variant |
Meniere disease [RCV001797051]|Usher syndrome type 2C [RCV001155423]|not provided [RCV000710461]|not specified [RCV000039633] |
Chr5:90694338 [GRCh38] Chr5:89990155 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.7631A>G (p.Glu2544Gly) |
single nucleotide variant |
not provided [RCV001340185]|not specified [RCV000039634] |
Chr5:90694387 [GRCh38] Chr5:89990204 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155426]|not provided [RCV001515556]|not specified [RCV000039635] |
Chr5:90694507 [GRCh38] Chr5:89990324 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.7813T>G (p.Leu2605Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157102]|not provided [RCV000224768]|not specified [RCV000039636] |
Chr5:90694569 [GRCh38] Chr5:89990386 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157106]|not provided [RCV000434012]|not specified [RCV000039637] |
Chr5:90694630 [GRCh38] Chr5:89990447 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.7945+6C>T |
single nucleotide variant |
Usher syndrome type 2C [RCV001151655]|not provided [RCV000514764]|not specified [RCV000039638] |
Chr5:90694707 [GRCh38] Chr5:89990524 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe) |
single nucleotide variant |
Hearing impairment [RCV001375445]|Usher syndrome type 2C [RCV000765845]|Usher syndrome type 2C [RCV001151659]|not provided [RCV000727071]|not specified [RCV000039639] |
Chr5:90697101 [GRCh38] Chr5:89992918 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.8133C>T (p.Ser2711=) |
single nucleotide variant |
Usher syndrome type 2C [RCV002490547]|not provided [RCV000827864]|not specified [RCV000039640] |
Chr5:90697124 [GRCh38] Chr5:89992941 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.8155+4G>T |
single nucleotide variant |
not specified [RCV000039641] |
Chr5:90697150 [GRCh38] Chr5:89992967 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151661]|not provided [RCV000724489]|not specified [RCV000039642] |
Chr5:90703670 [GRCh38] Chr5:89999487 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.8291C>T (p.Ser2764Leu) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154698]|not provided [RCV001510702]|not specified [RCV000039643] |
Chr5:90704393 [GRCh38] Chr5:90000210 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.8396C>T (p.Pro2799Leu) |
single nucleotide variant |
not provided [RCV001362654]|not specified [RCV000039644] |
Chr5:90705409 [GRCh38] Chr5:90001226 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154700]|not provided [RCV000710464]|not specified [RCV000039645] |
Chr5:90705420 [GRCh38] Chr5:90001237 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.8538T>G (p.Leu2846=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154702]|not provided [RCV001515557]|not specified [RCV000039646] |
Chr5:90705551 [GRCh38] Chr5:90001368 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.854G>A (p.Arg285His) |
single nucleotide variant |
not provided [RCV001852826]|not specified [RCV000039647] |
Chr5:90627392 [GRCh38] Chr5:89923209 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.8567-13C>T |
single nucleotide variant |
not provided [RCV001515507]|not specified [RCV000039648] |
Chr5:90706218 [GRCh38] Chr5:90002035 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154703]|not provided [RCV000514669]|not specified [RCV000039649] |
Chr5:90706236 [GRCh38] Chr5:90002053 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.8591C>T (p.Thr2864Met) |
single nucleotide variant |
not provided [RCV001325165]|not specified [RCV000039650] |
Chr5:90706255 [GRCh38] Chr5:90002072 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154704]|not provided [RCV001852827]|not specified [RCV000039651] |
Chr5:90706315 [GRCh38] Chr5:90002132 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155528]|not provided [RCV000710466]|not specified [RCV000039652] |
Chr5:90706355 [GRCh38] Chr5:90002172 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.8730+10_8730+11insC |
insertion |
Usher syndrome type 2C [RCV002496636]|not provided [RCV000991490]|not specified [RCV000039653] |
Chr5:90706404..90706405 [GRCh38] Chr5:90002221..90002222 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.8730+9_8730+10del |
microsatellite |
not provided [RCV000710467]|not specified [RCV000039654] |
Chr5:90706401..90706402 [GRCh38] Chr5:90002218..90002219 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.8737del (p.Val2913fs) |
deletion |
Rare genetic deafness [RCV000039655] |
Chr5:90708822 [GRCh38] Chr5:90004639 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155532]|Usher syndrome type 2C [RCV002496637]|not provided [RCV000710468]|not specified [RCV000039656] |
Chr5:90711032 [GRCh38] Chr5:90006849 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.8938T>C (p.Leu2980=) |
single nucleotide variant |
not provided [RCV000726062]|not specified [RCV000039657] |
Chr5:90711218 [GRCh38] Chr5:90007035 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157216]|not provided [RCV000725015]|not specified [RCV000039658] |
Chr5:90716495 [GRCh38] Chr5:90012312 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.9280G>A (p.Val3094Ile) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157217]|not provided [RCV001512357]|not specified [RCV000039659] |
Chr5:90716562 [GRCh38] Chr5:90012379 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001839410]|Usher syndrome type 2 [RCV001002856]|Usher syndrome type 2C [RCV001157220]|not provided [RCV000512737]|not specified [RCV000039660] |
Chr5:90716722 [GRCh38] Chr5:90012539 [GRCh37] Chr5:5q14.3 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.9466A>G (p.Ile3156Val) |
single nucleotide variant |
not provided [RCV001358284]|not specified [RCV000039661] |
Chr5:90720066 [GRCh38] Chr5:90015883 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys) |
single nucleotide variant |
Usher syndrome type 2C [RCV000765848]|not provided [RCV000725378]|not specified [RCV000039662] |
Chr5:90720954 [GRCh38] Chr5:90016771 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp) |
single nucleotide variant |
Usher syndrome type 2C [RCV000987539]|not provided [RCV001516998]|not specified [RCV000039663] |
Chr5:90721054 [GRCh38] Chr5:90016871 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.9771C>T (p.Ser3257=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151758]|not provided [RCV000710470]|not specified [RCV000039664] |
Chr5:90724854 [GRCh38] Chr5:90020671 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152991]|Usher syndrome type 2C [RCV002496638]|not provided [RCV001509776]|not specified [RCV000039665] |
Chr5:90725106 [GRCh38] Chr5:90020923 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1 |
copy number loss |
See cases [RCV000050945] |
Chr5:87376883..101524443 [GRCh38] Chr5:86672700..100860147 [GRCh37] Chr5:86708456..100888046 [NCBI36] Chr5:5q14.3-21.1 |
pathogenic |
GRCh38/hg38 5q14.3(chr5:90228146-91116592)x1 |
copy number loss |
See cases [RCV000050978] |
Chr5:90228146..91116592 [GRCh38] Chr5:89523963..90412409 [GRCh37] Chr5:89559719..90448165 [NCBI36] Chr5:5q14.3 |
pathogenic |
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 |
copy number gain |
See cases [RCV000051839] |
Chr5:74163186..110809453 [GRCh38] Chr5:73459011..110145153 [GRCh37] Chr5:73494767..110173052 [NCBI36] Chr5:5q13.3-22.1 |
pathogenic |
GRCh38/hg38 5q14.3-15(chr5:87124838-93383020)x3 |
copy number gain |
See cases [RCV000051840] |
Chr5:87124838..93383020 [GRCh38] Chr5:86420655..92718726 [GRCh37] Chr5:86456411..92744482 [NCBI36] Chr5:5q14.3-15 |
pathogenic |
GRCh38/hg38 5q14.3(chr5:90590733-90849185)x3 |
copy number gain |
See cases [RCV000053284] |
Chr5:90590733..90849185 [GRCh38] Chr5:89886550..90145002 [GRCh37] Chr5:89922306..90180758 [NCBI36] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.22+9T>C |
single nucleotide variant |
not provided [RCV000710442]|not specified [RCV000173536] |
Chr5:90558926 [GRCh38] Chr5:89854743 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
GRCh38/hg38 5q14.3(chr5:86743723-92337264)x1 |
copy number loss |
See cases [RCV000053477] |
Chr5:86743723..92337264 [GRCh38] Chr5:86039540..91633081 [GRCh37] Chr5:86075296..91668837 [NCBI36] Chr5:5q14.3 |
pathogenic |
GRCh38/hg38 5q14.3-15(chr5:88936770-94102018)x1 |
copy number loss |
See cases [RCV000053480] |
Chr5:88936770..94102018 [GRCh38] Chr5:88232587..93437723 [GRCh37] Chr5:88268343..93463479 [NCBI36] Chr5:5q14.3-15 |
pathogenic |
GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1 |
copy number loss |
See cases [RCV000053516] |
Chr5:89081352..104687248 [GRCh38] Chr5:88377169..104022949 [GRCh37] Chr5:88412925..104050848 [NCBI36] Chr5:5q14.3-21.2 |
pathogenic |
NM_032119.3(ADGRV1):c.2743G>A (p.Asp915Asn) |
single nucleotide variant |
Malignant melanoma [RCV000067031] |
Chr5:90644714 [GRCh38] Chr5:89940531 [GRCh37] Chr5:89976287 [NCBI36] Chr5:5q14.3 |
not provided |
NM_032119.3(ADGRV1):c.6592G>A (p.Glu2198Lys) |
single nucleotide variant |
Malignant melanoma [RCV000067032] |
Chr5:90689962 [GRCh38] Chr5:89985779 [GRCh37] Chr5:90021535 [NCBI36] Chr5:5q14.3 |
not provided |
NM_032119.4(ADGRV1):c.9679C>T (p.Arg3227Ter) |
single nucleotide variant |
Usher syndrome type 2 [RCV001002857]|not provided [RCV001854261] |
Chr5:90720990 [GRCh38] Chr5:90016807 [GRCh37] Chr5:90052563 [NCBI36] Chr5:5q14.3 |
pathogenic|not provided |
NM_032119.3(ADGRV1):c.9826G>A (p.Glu3276Lys) |
single nucleotide variant |
Malignant melanoma [RCV000067034] |
Chr5:90724909 [GRCh38] Chr5:90020726 [GRCh37] Chr5:90056482 [NCBI36] Chr5:5q14.3 |
not provided |
NM_032119.3(ADGRV1):c.10745C>T (p.Ser3582Phe) |
single nucleotide variant |
Malignant melanoma [RCV000067035] |
Chr5:90745241 [GRCh38] Chr5:90041058 [GRCh37] Chr5:90076814 [NCBI36] Chr5:5q14.3 |
not provided |
NM_032119.3(ADGRV1):c.11107C>T (p.Pro3703Ser) |
single nucleotide variant |
Malignant melanoma [RCV000067036] |
Chr5:90750683 [GRCh38] Chr5:90046500 [GRCh37] Chr5:90082256 [NCBI36] Chr5:5q14.3 |
not provided |
NM_032119.3(ADGRV1):c.11952G>A (p.Met3984Ile) |
single nucleotide variant |
Malignant melanoma [RCV000067037] |
Chr5:90759420 [GRCh38] Chr5:90055237 [GRCh37] Chr5:90090993 [NCBI36] Chr5:5q14.3 |
not provided |
NM_032119.3(ADGRV1):c.11980G>A (p.Glu3994Lys) |
single nucleotide variant |
Malignant melanoma [RCV000067038] |
Chr5:90759448 [GRCh38] Chr5:90055265 [GRCh37] Chr5:90091021 [NCBI36] Chr5:5q14.3 |
not provided |
NM_032119.3(ADGRV1):c.12595G>A (p.Gly4199Arg) |
single nucleotide variant |
Malignant melanoma [RCV000067039] |
Chr5:90777972 [GRCh38] Chr5:90073789 [GRCh37] Chr5:90109545 [NCBI36] Chr5:5q14.3 |
not provided |
NM_032119.3(ADGRV1):c.13918G>A (p.Gly4640Arg) |
single nucleotide variant |
Malignant melanoma [RCV000067040] |
Chr5:90789726 [GRCh38] Chr5:90085543 [GRCh37] Chr5:90121299 [NCBI36] Chr5:5q14.3 |
not provided |
NM_032119.4(ADGRV1):c.2870dup (p.Asn957fs) |
duplication |
Rare genetic deafness [RCV000039565]|not provided [RCV002513550] |
Chr5:90644835..90644836 [GRCh38] Chr5:89940652..89940653 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.15440A>G (p.Asp5147Gly) |
single nucleotide variant |
not provided [RCV001202720] |
Chr5:90810700 [GRCh38] Chr5:90106517 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.16308C>A (p.Thr5436=) |
single nucleotide variant |
not provided [RCV000086993]|not specified [RCV000439399] |
Chr5:90823536 [GRCh38] Chr5:90119353 [GRCh37] Chr5:5q14.3 |
likely benign|not provided |
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV000146072]|Usher syndrome type 2C [RCV001157758]|not provided [RCV000086994]|not specified [RCV000155120] |
Chr5:91072567 [GRCh38] Chr5:90368384 [GRCh37] Chr5:5q14.3 |
benign|likely benign|uncertain significance|not provided |
NM_032119.4(ADGRV1):c.15959A>T (p.Asp5320Val) |
single nucleotide variant |
not provided [RCV000082289] |
Chr5:90811219 [GRCh38] Chr5:90107036 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.4714A>G (p.Asn1572Asp) |
single nucleotide variant |
Usher syndrome type 2C [RCV002477242]|not provided [RCV000082291] |
Chr5:90658240 [GRCh38] Chr5:89954057 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18607A>G (p.Ile6203Val) |
single nucleotide variant |
not provided [RCV001367829] |
Chr5:91150204 [GRCh38] Chr5:90446021 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3943C>A (p.Gln1315Lys) |
single nucleotide variant |
not provided [RCV001854133]|not specified [RCV000602861] |
Chr5:90653517 [GRCh38] Chr5:89949334 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5158A>G (p.Met1720Val) |
single nucleotide variant |
not provided [RCV001367736] |
Chr5:90675290 [GRCh38] Chr5:89971107 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14517+18A>G |
single nucleotide variant |
not provided [RCV001523100]|not specified [RCV000125284] |
Chr5:90791364 [GRCh38] Chr5:90087181 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.-44C>T |
single nucleotide variant |
Usher syndrome type 2C [RCV001152776]|not specified [RCV000125288] |
Chr5:90558852 [GRCh38] Chr5:89854669 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.18433-16T>C |
single nucleotide variant |
not provided [RCV001409808]|not specified [RCV000125289] |
Chr5:91150014 [GRCh38] Chr5:90445831 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) |
single nucleotide variant |
Usher syndrome type 2C [RCV000987533]|not provided [RCV000725781]|not specified [RCV000125295] |
Chr5:90635123 [GRCh38] Chr5:89930940 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154171]|not provided [RCV000725782]|not specified [RCV000125297] |
Chr5:90637820 [GRCh38] Chr5:89933637 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.2241-19G>T |
single nucleotide variant |
Usher syndrome type 2C [RCV001701517]|not provided [RCV001511673]|not specified [RCV000125298] |
Chr5:90642617 [GRCh38] Chr5:89938434 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.4752+19G>T |
single nucleotide variant |
not provided [RCV001523099]|not specified [RCV000125302] |
Chr5:90658297 [GRCh38] Chr5:89954114 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.5108A>G (p.Tyr1703Cys) |
single nucleotide variant |
not provided [RCV001302738] |
Chr5:90674232 [GRCh38] Chr5:89970049 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2680del (p.Ser894fs) |
deletion |
Usher syndrome type 2C [RCV001002726] |
Chr5:90643927 [GRCh38] Chr5:89939744 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.4702del (p.Ser1568fs) |
deletion |
not provided [RCV000176234] |
Chr5:90658223 [GRCh38] Chr5:89954040 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.18422A>G (p.Asn6141Ser) |
single nucleotide variant |
not provided [RCV001303486] |
Chr5:91102330 [GRCh38] Chr5:90398147 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2173A>G (p.Ile725Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002543100]|not provided [RCV001303500] |
Chr5:90637881 [GRCh38] Chr5:89933698 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7603G>A (p.Asp2535Asn) |
single nucleotide variant |
not provided [RCV001963857] |
Chr5:90694359 [GRCh38] Chr5:89990176 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8204del (p.Asn2735fs) |
deletion |
not provided [RCV000177853] |
Chr5:90703711 [GRCh38] Chr5:89999528 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.8730+21dup |
duplication |
Usher syndrome type 2C [RCV002225091]|not provided [RCV001515558]|not specified [RCV000177957] |
Chr5:90706403..90706404 [GRCh38] Chr5:90002221 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
Single allele |
duplication |
not specified [RCV000180434] |
Chr5:90398027..90398028 [GRCh37] |
benign |
NM_032119.4(ADGRV1):c.18433-7_18433-5del |
deletion |
not specified [RCV000180440] |
Chr5:91150010..91150012 [GRCh38] Chr5:90445827..90445829 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.17987G>T (p.Trp5996Leu) |
single nucleotide variant |
Retinal dystrophy [RCV001075116]|not provided [RCV000514645] |
Chr5:90985357 [GRCh38] Chr5:90281174 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.8824+4T>C |
single nucleotide variant |
not provided [RCV001348582] |
Chr5:90708913 [GRCh38] Chr5:90004730 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12595G>C (p.Gly4199Arg) |
single nucleotide variant |
not provided [RCV001348620] |
Chr5:90777972 [GRCh38] Chr5:90073789 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15718A>G (p.Thr5240Ala) |
single nucleotide variant |
not provided [RCV001302874] |
Chr5:90810978 [GRCh38] Chr5:90106795 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12935G>A (p.Gly4312Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002543096]|not provided [RCV001302974] |
Chr5:90778950 [GRCh38] Chr5:90074767 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12403+1G>T |
single nucleotide variant |
Usher syndrome type 2C [RCV000132685] |
Chr5:90774304 [GRCh38] Chr5:90070121 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.16313C>T (p.Thr5438Ile) |
single nucleotide variant |
not provided [RCV001302894] |
Chr5:90823541 [GRCh38] Chr5:90119358 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.6490+224TTA[3] |
microsatellite |
not provided [RCV001545691] |
Chr5:90686219..90686221 [GRCh38] Chr5:89982036..89982038 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9869C>T (p.Thr3290Ile) |
single nucleotide variant |
not provided [RCV001312999] |
Chr5:90724952 [GRCh38] Chr5:90020769 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2185A>G (p.Ile729Val) |
single nucleotide variant |
not provided [RCV001294432] |
Chr5:90637893 [GRCh38] Chr5:89933710 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.9447+3A>T |
single nucleotide variant |
not provided [RCV001302525] |
Chr5:90716732 [GRCh38] Chr5:90012549 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7606G>T (p.Glu2536Ter) |
single nucleotide variant |
Usher syndrome type 2C [RCV000256377] |
Chr5:90694362 [GRCh38] Chr5:89990179 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1854G>A (p.Glu618=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152890]|not provided [RCV000173908] |
Chr5:90635128 [GRCh38] Chr5:89930945 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.2106G>A (p.Val702=) |
single nucleotide variant |
not provided [RCV000174170] |
Chr5:90637814 [GRCh38] Chr5:89933631 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.2233C>G (p.Leu745Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002516618]|not provided [RCV000174171] |
Chr5:90637941 [GRCh38] Chr5:89933758 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10161+26G>T |
single nucleotide variant |
Usher syndrome type 2C [RCV001701527]|not provided [RCV001650997]|not specified [RCV000146065] |
Chr5:90725682 [GRCh38] Chr5:90021499 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154897]|not provided [RCV000880541]|not specified [RCV000146066] |
Chr5:90627624 [GRCh38] Chr5:89923441 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.11338C>T (p.Arg3780Cys) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV000146067]|not provided [RCV001213321] |
Chr5:90753790 [GRCh38] Chr5:90049607 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.11481T>C (p.Asp3827=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151867]|not provided [RCV000710422]|not specified [RCV000146068] |
Chr5:90755086 [GRCh38] Chr5:90050903 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.12032G>T (p.Gly4011Val) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV000146069]|not provided [RCV001857510]|not specified [RCV002222408] |
Chr5:90759500 [GRCh38] Chr5:90055317 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser) |
single nucleotide variant |
Usher syndrome type 2C [RCV000987532]|not provided [RCV000725730]|not specified [RCV000146071] |
Chr5:90629497 [GRCh38] Chr5:89925314 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.18311-22A>G |
single nucleotide variant |
not provided [RCV001650998]|not specified [RCV000146073] |
Chr5:91102197 [GRCh38] Chr5:90398014 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV000146074]|Seizure [RCV001255058]|Usher syndrome type 2C [RCV001152891]|not provided [RCV000725995]|not specified [RCV000155099] |
Chr5:90635129 [GRCh38] Chr5:89930946 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV000146075]|not provided [RCV000755456]|not specified [RCV000174607] |
Chr5:90642944 [GRCh38] Chr5:89938761 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.3289G>A (p.Gly1097Ser) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154283]|not provided [RCV000889810]|not specified [RCV000146078] |
Chr5:90647764 [GRCh38] Chr5:89943581 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_032119.4(ADGRV1):c.5665-23T>C |
single nucleotide variant |
not provided [RCV000833691]|not specified [RCV000146080] |
Chr5:90683563 [GRCh38] Chr5:89979380 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.5747C>T (p.Thr1916Ile) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156885]|not provided [RCV000224055]|not specified [RCV000146081] |
Chr5:90683668 [GRCh38] Chr5:89979485 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_032119.4(ADGRV1):c.7945+27C>A |
single nucleotide variant |
Usher syndrome type 2C [RCV001701767]|not provided [RCV000833692]|not specified [RCV000146083] |
Chr5:90694728 [GRCh38] Chr5:89990545 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) |
single nucleotide variant |
Febrile seizures, familial, 1 [RCV000714566]|Usher syndrome type 2C [RCV000714565]|not provided [RCV000433341]|not specified [RCV000146084] |
Chr5:90720961 [GRCh38] Chr5:90016778 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_032119.4(ADGRV1):c.9907-35A>C |
single nucleotide variant |
Usher syndrome type 2C [RCV001701615]|not provided [RCV000833699]|not specified [RCV000146085] |
Chr5:90725051 [GRCh38] Chr5:90020868 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.7370C>T (p.Ala2457Val) |
single nucleotide variant |
not specified [RCV000202667] |
Chr5:90694126 [GRCh38] Chr5:89989943 [GRCh37] Chr5:5q14.3 |
uncertain significance |
GRCh38/hg38 5q14.3-21.1(chr5:85966055-101335711)x1 |
copy number loss |
See cases [RCV000135748] |
Chr5:85966055..101335711 [GRCh38] Chr5:85261873..100671415 [GRCh37] Chr5:85297629..100699314 [NCBI36] Chr5:5q14.3-21.1 |
pathogenic |
GRCh38/hg38 5q14.3-15(chr5:88197732-93193163)x3 |
copy number gain |
See cases [RCV000136732] |
Chr5:88197732..93193163 [GRCh38] Chr5:87493549..92528869 [GRCh37] Chr5:87529305..92554625 [NCBI36] Chr5:5q14.3-15 |
pathogenic |
NM_032119.4(ADGRV1):c.3244C>T (p.Pro1082Ser) |
single nucleotide variant |
not provided [RCV000175236] |
Chr5:90647719 [GRCh38] Chr5:89943536 [GRCh37] Chr5:5q14.3 |
uncertain significance |
GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1 |
copy number loss |
See cases [RCV000139893] |
Chr5:90374606..128076423 [GRCh38] Chr5:89670423..127412115 [GRCh37] Chr5:89706179..127440014 [NCBI36] Chr5:5q14.3-23.3 |
pathogenic |
GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1 |
copy number loss |
See cases [RCV000139656] |
Chr5:84603580..111435081 [GRCh38] Chr5:83899398..110770779 [GRCh37] Chr5:83935154..110798678 [NCBI36] Chr5:5q14.3-22.1 |
pathogenic |
GRCh38/hg38 5q14.3(chr5:89913177-90559619)x1 |
copy number loss |
See cases [RCV000139553] |
Chr5:89913177..90559619 [GRCh38] Chr5:89208994..89855436 [GRCh37] Chr5:89244750..89891192 [NCBI36] Chr5:5q14.3 |
uncertain significance |
GRCh38/hg38 5q14.3(chr5:86766959-92148845)x1 |
copy number loss |
See cases [RCV000141419] |
Chr5:86766959..92148845 [GRCh38] Chr5:86062776..91444662 [GRCh37] Chr5:86098532..91480418 [NCBI36] Chr5:5q14.3 |
pathogenic |
GRCh38/hg38 5q14.3(chr5:88368289-92363231)x1 |
copy number loss |
See cases [RCV000140963] |
Chr5:88368289..92363231 [GRCh38] Chr5:87664106..91698938 [GRCh37] Chr5:87699862..91724694 [NCBI36] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.5587G>A (p.Val1863Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002517358]|not provided [RCV001339542]|not specified [RCV000203085] |
Chr5:90681377 [GRCh38] Chr5:89977194 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14427A>G (p.Glu4809=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157527]|not provided [RCV000933627]|not specified [RCV000155856] |
Chr5:90791256 [GRCh38] Chr5:90087073 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.1049C>A (p.Thr350Asn) |
single nucleotide variant |
not provided [RCV001850139]|not specified [RCV000155858] |
Chr5:90627587 [GRCh38] Chr5:89923404 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12721G>A (p.Ala4241Thr) |
single nucleotide variant |
not provided [RCV001339539]|not specified [RCV000155887] |
Chr5:90778481 [GRCh38] Chr5:90074298 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.17303_17315del (p.Gly5768fs) |
deletion |
Rare genetic deafness [RCV000155906]|not provided [RCV001009195] |
Chr5:90853381..90853393 [GRCh38] Chr5:90149199..90149211 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.425A>G (p.Asn142Ser) |
single nucleotide variant |
not provided [RCV001850142]|not specified [RCV000155930] |
Chr5:90619153 [GRCh38] Chr5:89914970 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18311-9dup |
duplication |
not provided [RCV001523385]|not specified [RCV000155936] |
Chr5:91102200..91102201 [GRCh38] Chr5:90398017..90398018 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.9590T>C (p.Leu3197Ser) |
single nucleotide variant |
not specified [RCV000155958] |
Chr5:90720190 [GRCh38] Chr5:90016007 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156567]|not provided [RCV000891203]|not specified [RCV000150754] |
Chr5:90629222 [GRCh38] Chr5:89925039 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155222]|not provided [RCV000724365]|not specified [RCV000150758] |
Chr5:90675414 [GRCh38] Chr5:89971231 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002514899]|Usher syndrome type 2C [RCV001157104]|not provided [RCV001312581]|not specified [RCV000150763] |
Chr5:90694623 [GRCh38] Chr5:89990440 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.9607T>A (p.Ser3203Thr) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151754]|not provided [RCV000515025]|not specified [RCV000150768] |
Chr5:90720207 [GRCh38] Chr5:90016024 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.10796G>C (p.Gly3599Ala) |
single nucleotide variant |
not provided [RCV000766759]|not specified [RCV000150771] |
Chr5:90745617 [GRCh38] Chr5:90041434 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157312]|not provided [RCV000513954]|not specified [RCV000150772] |
Chr5:90745757 [GRCh38] Chr5:90041574 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002516027]|Usher syndrome type 2C [RCV001157314]|not provided [RCV000766419]|not specified [RCV000150773] |
Chr5:90753653 [GRCh38] Chr5:90049470 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe) |
single nucleotide variant |
Hearing impairment [RCV001375219]|Usher syndrome type 2C [RCV000765850]|Usher syndrome type 2C [RCV001153111]|not provided [RCV000729114]|not specified [RCV000150777] |
Chr5:90763365 [GRCh38] Chr5:90059182 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.16285G>A (p.Glu5429Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002516028]|not provided [RCV000724045]|not specified [RCV000150787] |
Chr5:90823513 [GRCh38] Chr5:90119330 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.16699G>A (p.Val5567Ile) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152167]|not provided [RCV001035642]|not specified [RCV000150789] |
Chr5:90840665 [GRCh38] Chr5:90136482 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.17528A>G (p.Tyr5843Cys) |
single nucleotide variant |
not provided [RCV000724661]|not specified [RCV000150794] |
Chr5:90854135 [GRCh38] Chr5:90149952 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.13919G>A (p.Gly4640Glu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001839411]|not provided [RCV000725333]|not specified [RCV000155990] |
Chr5:90789727 [GRCh38] Chr5:90085544 [GRCh37] Chr5:5q14.3 |
likely pathogenic|uncertain significance |
NM_032119.4(ADGRV1):c.10214G>A (p.Arg3405Gln) |
single nucleotide variant |
not specified [RCV000156022] |
Chr5:90728721 [GRCh38] Chr5:90024538 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5568C>T (p.Ala1856=) |
single nucleotide variant |
not specified [RCV000156086] |
Chr5:90681358 [GRCh38] Chr5:89977175 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12631C>T (p.Arg4211Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000156094]|not provided [RCV002515009] |
Chr5:90778008 [GRCh38] Chr5:90073825 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.21A>C (p.Pro7=) |
single nucleotide variant |
not provided [RCV001240093]|not specified [RCV000156171] |
Chr5:90558916 [GRCh38] Chr5:89854733 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12830G>T (p.Arg4277Leu) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151951]|not specified [RCV000156195] |
Chr5:90778590 [GRCh38] Chr5:90074407 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.13336G>A (p.Gly4446Arg) |
single nucleotide variant |
Retinal dystrophy [RCV001073807]|not provided [RCV001465523]|not specified [RCV000156241] |
Chr5:90783228 [GRCh38] Chr5:90079045 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.17512G>A (p.Val5838Ile) |
single nucleotide variant |
not provided [RCV001059912]|not specified [RCV000156298] |
Chr5:90854119 [GRCh38] Chr5:90149936 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.3(ADGRV1):c.(?_4379)_(4752_?)del |
deletion |
Rare genetic deafness [RCV000156303] |
Chr5:90657905..90658278 [GRCh38] Chr5:89953722..89954095 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys) |
single nucleotide variant |
Retinitis pigmentosa [RCV001589003]|Usher syndrome type 2C [RCV001152888]|not provided [RCV000725188]|not specified [RCV000150755] |
Chr5:90629537 [GRCh38] Chr5:89925354 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.5311C>G (p.Gln1771Glu) |
single nucleotide variant |
not specified [RCV000150759] |
Chr5:90675443 [GRCh38] Chr5:89971260 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5623G>A (p.Gly1875Arg) |
single nucleotide variant |
not provided [RCV001850050]|not specified [RCV000150760] |
Chr5:90681413 [GRCh38] Chr5:89977230 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5643del (p.Tyr1882fs) |
deletion |
Rare genetic deafness [RCV000150761]|not provided [RCV001068872] |
Chr5:90681431 [GRCh38] Chr5:89977248 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.6161G>A (p.Ser2054Asn) |
single nucleotide variant |
not specified [RCV000150762] |
Chr5:90684082 [GRCh38] Chr5:89979899 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8088G>A (p.Leu2696=) |
single nucleotide variant |
not provided [RCV000710463]|not specified [RCV000150764] |
Chr5:90697079 [GRCh38] Chr5:89992896 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.9255C>G (p.Phe3085Leu) |
single nucleotide variant |
not specified [RCV000150765] |
Chr5:90716537 [GRCh38] Chr5:90012354 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151753]|not provided [RCV000728496]|not specified [RCV000150767] |
Chr5:90720158 [GRCh38] Chr5:90015975 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.9888G>A (p.Gly3296=) |
single nucleotide variant |
not provided [RCV001496512]|not specified [RCV000150769] |
Chr5:90724971 [GRCh38] Chr5:90020788 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10066A>G (p.Ile3356Val) |
single nucleotide variant |
not provided [RCV000732465]|not specified [RCV000150770] |
Chr5:90725561 [GRCh38] Chr5:90021378 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.11562C>T (p.Ala3854=) |
single nucleotide variant |
not provided [RCV000940482]|not specified [RCV000150775] |
Chr5:90755167 [GRCh38] Chr5:90050984 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.12121-13T>C |
single nucleotide variant |
not provided [RCV001449085]|not specified [RCV000150776] |
Chr5:90763292 [GRCh38] Chr5:90059109 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12207C>T (p.Thr4069=) |
single nucleotide variant |
not provided [RCV000710426]|not specified [RCV000150778] |
Chr5:90763391 [GRCh38] Chr5:90059208 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.12506A>G (p.Tyr4169Cys) |
single nucleotide variant |
not provided [RCV001242873]|not specified [RCV000150779] |
Chr5:90776555 [GRCh38] Chr5:90072372 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12424C>T (p.Arg4142Trp) |
single nucleotide variant |
not provided [RCV001304024]|not specified [RCV000150780] |
Chr5:90776473 [GRCh38] Chr5:90072290 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12463C>T (p.Pro4155Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002514900]|not provided [RCV000728658]|not specified [RCV000150781] |
Chr5:90776512 [GRCh38] Chr5:90072329 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.12489G>C (p.Gly4163=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157418]|not specified [RCV000150782] |
Chr5:90776538 [GRCh38] Chr5:90072355 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13364G>A (p.Ser4455Asn) |
single nucleotide variant |
not specified [RCV000150783] |
Chr5:90783256 [GRCh38] Chr5:90079073 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13714A>T (p.Ile4572Phe) |
single nucleotide variant |
not provided [RCV001850051]|not specified [RCV000150784] |
Chr5:90788131 [GRCh38] Chr5:90083948 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13765G>A (p.Val4589Met) |
single nucleotide variant |
not provided [RCV001048288]|not specified [RCV000150785] |
Chr5:90788182 [GRCh38] Chr5:90083999 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14043+8T>C |
single nucleotide variant |
not provided [RCV002514901]|not specified [RCV000150786] |
Chr5:90789859 [GRCh38] Chr5:90085676 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) |
single nucleotide variant |
Usher syndrome type 1 [RCV000217534]|Usher syndrome type 2C [RCV000987542]|not provided [RCV000887932]|not specified [RCV000150788] |
Chr5:90828952 [GRCh38] Chr5:90124769 [GRCh37] Chr5:5q14.3 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.17092C>G (p.Leu5698Val) |
single nucleotide variant |
not specified [RCV000150790] |
Chr5:90848709 [GRCh38] Chr5:90144526 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17184T>C (p.Thr5728=) |
single nucleotide variant |
not specified [RCV000150791] |
Chr5:90848801 [GRCh38] Chr5:90144618 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17192C>G (p.Ser5731Cys) |
single nucleotide variant |
not specified [RCV000150792] |
Chr5:90848809 [GRCh38] Chr5:90144626 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17342A>G (p.Gln5781Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003298156]|not provided [RCV000724420]|not specified [RCV000150793] |
Chr5:90853421 [GRCh38] Chr5:90149238 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.670G>A (p.Glu224Lys) |
single nucleotide variant |
not specified [RCV000156363] |
Chr5:90625241 [GRCh38] Chr5:89921058 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153220]|not provided [RCV000724676]|not specified [RCV000156365] |
Chr5:90783900 [GRCh38] Chr5:90079717 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.10060_10063del (p.Thr3354fs) |
microsatellite |
Rare genetic deafness [RCV000156391] |
Chr5:90725551..90725554 [GRCh38] Chr5:90021368..90021371 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.3279= (p.Leu1093=) |
single nucleotide variant |
not specified [RCV000154363] |
Chr5:90647754 [GRCh38] Chr5:89943571 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.18625-7= |
single nucleotide variant |
not specified [RCV000154372] |
Chr5:91153214 [GRCh38] Chr5:90449031 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.9291T>G (p.Ser3097Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002516336]|not provided [RCV001045007]|not specified [RCV000156468] |
Chr5:90716573 [GRCh38] Chr5:90012390 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.787G>A (p.Val263Met) |
single nucleotide variant |
not provided [RCV002515022]|not specified [RCV000156485] |
Chr5:90627325 [GRCh38] Chr5:89923142 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.15855A>G (p.Leu5285=) |
single nucleotide variant |
not provided [RCV002515031]|not specified [RCV000156622] |
Chr5:90811115 [GRCh38] Chr5:90106932 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17856+4G>A |
single nucleotide variant |
not provided [RCV002516346]|not specified [RCV000156708] |
Chr5:90863861 [GRCh38] Chr5:90159678 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5779_5783dup (p.Ser1928fs) |
duplication |
Rare genetic deafness [RCV000156744]|not provided [RCV001857546] |
Chr5:90683697..90683698 [GRCh38] Chr5:89979514..89979515 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.15667G>A (p.Gly5223Arg) |
single nucleotide variant |
not provided [RCV001297791]|not specified [RCV000156838] |
Chr5:90810927 [GRCh38] Chr5:90106744 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2241-10A>T |
single nucleotide variant |
Usher syndrome type 2C [RCV001154173]|Usher syndrome type 2C [RCV002492605]|not provided [RCV000710443]|not specified [RCV000156853] |
Chr5:90642626 [GRCh38] Chr5:89938443 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.1510-7A>T |
single nucleotide variant |
Usher syndrome type 2C [RCV001156566]|not provided [RCV000891867]|not specified [RCV000156928] |
Chr5:90629203 [GRCh38] Chr5:89925020 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.2367+8= |
single nucleotide variant |
not specified [RCV000150756] |
Chr5:90642770 [GRCh38] Chr5:89938587 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.9447+6G>A |
single nucleotide variant |
Usher syndrome type 2C [RCV001157221]|not provided [RCV000724883]|not specified [RCV000150766] |
Chr5:90716735 [GRCh38] Chr5:90012552 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.207+3A>G |
single nucleotide variant |
Usher syndrome type 2C [RCV001152780]|not provided [RCV000710441]|not specified [RCV000155097] |
Chr5:90615022 [GRCh38] Chr5:89910839 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.2119A>T (p.Ile707Leu) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154172]|not provided [RCV000897118]|not specified [RCV000155100] |
Chr5:90637827 [GRCh38] Chr5:89933644 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151214]|not provided [RCV000890477]|not specified [RCV000155102] |
Chr5:90647730 [GRCh38] Chr5:89943547 [GRCh37] Chr5:5q14.3 |
benign|likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3741G>A (p.Glu1247=) |
single nucleotide variant |
not provided [RCV001511238]|not specified [RCV000155103] |
Chr5:90653315 [GRCh38] Chr5:89949132 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.8265C>T (p.Ser2755=) |
single nucleotide variant |
not provided [RCV001428526]|not specified [RCV000155108] |
Chr5:90703774 [GRCh38] Chr5:89999591 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10527C>T (p.Ser3509=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155645]|not provided [RCV000908473]|not specified [RCV000155109] |
Chr5:90729742 [GRCh38] Chr5:90025559 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12527+6G>T |
single nucleotide variant |
Usher syndrome type 2C [RCV001157419]|not provided [RCV000710428]|not specified [RCV000155113] |
Chr5:90776582 [GRCh38] Chr5:90072399 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.13185C>T (p.Asn4395=) |
single nucleotide variant |
not provided [RCV001447551]|not specified [RCV000155114] |
Chr5:90781532 [GRCh38] Chr5:90077349 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14532G>T (p.Leu4844=) |
single nucleotide variant |
not provided [RCV001558854]|not specified [RCV000155115] |
Chr5:90802753 [GRCh38] Chr5:90098570 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14943G>C (p.Gln4981His) |
single nucleotide variant |
Inborn genetic diseases [RCV002514983]|not provided [RCV000968059]|not specified [RCV000155117] |
Chr5:90807708 [GRCh38] Chr5:90103525 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.17871G>A (p.Ala5957=) |
single nucleotide variant |
not provided [RCV001417046]|not specified [RCV000155119] |
Chr5:90965429 [GRCh38] Chr5:90261246 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18470A>G (p.Asn6157Ser) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157761]|not provided [RCV000966188]|not specified [RCV000155121] |
Chr5:91150067 [GRCh38] Chr5:90445884 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.(?_18153)-15_*(15_?)del |
deletion |
Rare genetic deafness [RCV000155450] |
Chr5:91072432..91163915 [GRCh38] Chr5:90368249..90459732 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.-11G>A |
single nucleotide variant |
not specified [RCV000155612] |
Chr5:90558885 [GRCh38] Chr5:89854702 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17722G>A (p.Ala5908Thr) |
single nucleotide variant |
not specified [RCV000155654] |
Chr5:90855868 [GRCh38] Chr5:90151685 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.8521A>G (p.Asn2841Asp) |
single nucleotide variant |
not specified [RCV000155725] |
Chr5:90705534 [GRCh38] Chr5:90001351 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6382C>A (p.Arg2128=) |
single nucleotide variant |
not specified [RCV000155726] |
Chr5:90685887 [GRCh38] Chr5:89981704 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154893]|not provided [RCV000710465]|not specified [RCV000155098] |
Chr5:90627391 [GRCh38] Chr5:89923208 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.2261T>C (p.Val754Ala) |
single nucleotide variant |
not provided [RCV001514610]|not specified [RCV000155101] |
Chr5:90642656 [GRCh38] Chr5:89938473 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155122]|not provided [RCV000880239]|not specified [RCV000155104] |
Chr5:90653530 [GRCh38] Chr5:89949347 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.4149C>T (p.Tyr1383=) |
single nucleotide variant |
not provided [RCV000931870]|not specified [RCV000155105] |
Chr5:90653723 [GRCh38] Chr5:89949540 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6383G>A (p.Arg2128Gln) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155317]|not provided [RCV000952521]|not specified [RCV000155107] |
Chr5:90685888 [GRCh38] Chr5:89981705 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.11568T>C (p.Val3856=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151868]|not provided [RCV000975072]|not specified [RCV000155110] |
Chr5:90755173 [GRCh38] Chr5:90050990 [GRCh37] Chr5:5q14.3 |
benign|likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153109]|not provided [RCV000585241]|not specified [RCV000155111] |
Chr5:90759442 [GRCh38] Chr5:90055259 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155715]|not provided [RCV000514796]|not specified [RCV000155112] |
Chr5:90763396 [GRCh38] Chr5:90059213 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002514982]|not provided [RCV000724660]|not specified [RCV000155116] |
Chr5:90805383 [GRCh38] Chr5:90101200 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157635]|not provided [RCV000724031]|not specified [RCV000155118] |
Chr5:90823540 [GRCh38] Chr5:90119357 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002516135]|Usher syndrome type 2C [RCV000765844]|Usher syndrome type 2C [RCV001157105]|not provided [RCV000710462]|not specified [RCV000155734] |
Chr5:90694629 [GRCh38] Chr5:89990446 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV000490254]|not provided [RCV000755792]|not specified [RCV000155945] |
Chr5:90689929 [GRCh38] Chr5:89985746 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.11745T>C (p.Phe3915=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151872]|not provided [RCV000879968]|not specified [RCV000156733] |
Chr5:90756618 [GRCh38] Chr5:90052435 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155223]|not provided [RCV000723731]|not specified [RCV000153338] |
Chr5:90675427 [GRCh38] Chr5:89971244 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.4168A>G (p.Asn1390Asp) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156788]|not provided [RCV000176120] |
Chr5:90653742 [GRCh38] Chr5:89949559 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.4468C>A (p.Leu1490Met) |
single nucleotide variant |
not provided [RCV000176231] |
Chr5:90657994 [GRCh38] Chr5:89953811 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151342]|not provided [RCV000724689]|not specified [RCV000176233] |
Chr5:90658192 [GRCh38] Chr5:89954009 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.9083A>G (p.Asn3028Ser) |
single nucleotide variant |
not provided [RCV000724092]|not specified [RCV000178509] |
Chr5:90712327 [GRCh38] Chr5:90008144 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157219]|not provided [RCV000710469]|not specified [RCV000178540] |
Chr5:90716648 [GRCh38] Chr5:90012465 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.9631T>C (p.Ser3211Pro) |
single nucleotide variant |
not provided [RCV000178586] |
Chr5:90720942 [GRCh38] Chr5:90016759 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.9772G>A (p.Val3258Ile) |
single nucleotide variant |
not provided [RCV000724777]|not specified [RCV000178611] |
Chr5:90724855 [GRCh38] Chr5:90020672 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.10126A>G (p.Ile3376Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002517743]|not provided [RCV000890563]|not specified [RCV000178673] |
Chr5:90725621 [GRCh38] Chr5:90021438 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.10323G>T (p.Gly3441=) |
single nucleotide variant |
not provided [RCV000724619]|not specified [RCV000222142] |
Chr5:90728830 [GRCh38] Chr5:90024647 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.10342G>A (p.Val3448Met) |
single nucleotide variant |
not provided [RCV000178696] |
Chr5:90728849 [GRCh38] Chr5:90024666 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.10563T>C (p.Leu3521=) |
single nucleotide variant |
not provided [RCV000724340]|not specified [RCV000179095] |
Chr5:90745059 [GRCh38] Chr5:90040876 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.10974G>T (p.Gln3658His) |
single nucleotide variant |
not provided [RCV000179111] |
Chr5:90745795 [GRCh38] Chr5:90041612 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11157C>A (p.Ile3719=) |
single nucleotide variant |
not provided [RCV000179155] |
Chr5:90753609 [GRCh38] Chr5:90049426 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.2734+8A>G |
single nucleotide variant |
not provided [RCV000726363]|not specified [RCV000195232] |
Chr5:90643991 [GRCh38] Chr5:89939808 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.11761G>A (p.Ala3921Thr) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153105]|not provided [RCV000179197] |
Chr5:90756982 [GRCh38] Chr5:90052799 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.12208G>A (p.Val4070Ile) |
single nucleotide variant |
Hearing impairment [RCV001375298]|not provided [RCV000179229] |
Chr5:90763392 [GRCh38] Chr5:90059209 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) |
single nucleotide variant |
Usher syndrome type 2C [RCV000765851]|Usher syndrome type 2C [RCV001155719]|not provided [RCV000710427] |
Chr5:90774249 [GRCh38] Chr5:90070066 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.12545G>T (p.Gly4182Val) |
single nucleotide variant |
not provided [RCV000179607] |
Chr5:90777922 [GRCh38] Chr5:90073739 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14005T>C (p.Phe4669Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002517755]|Usher syndrome type 2C [RCV001155820]|not provided [RCV000179692] |
Chr5:90789813 [GRCh38] Chr5:90085630 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.1140A>G (p.Gln380=) |
single nucleotide variant |
not provided [RCV000724820] |
Chr5:90627678 [GRCh38] Chr5:89923495 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.14970C>A (p.Leu4990=) |
single nucleotide variant |
not provided [RCV000180053] |
Chr5:90807735 [GRCh38] Chr5:90103552 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.15837C>A (p.Ile5279=) |
single nucleotide variant |
not provided [RCV000180058] |
Chr5:90811097 [GRCh38] Chr5:90106914 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.15619G>A (p.Val5207Met) |
single nucleotide variant |
not provided [RCV000180060] |
Chr5:90810879 [GRCh38] Chr5:90106696 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15145G>A (p.Ala5049Thr) |
single nucleotide variant |
Usher syndrome type 2C [RCV002478599]|not provided [RCV000724399]|not specified [RCV000180061] |
Chr5:90810405 [GRCh38] Chr5:90106222 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15343C>T (p.Leu5115=) |
single nucleotide variant |
not provided [RCV000894089]|not specified [RCV000180062] |
Chr5:90810603 [GRCh38] Chr5:90106420 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys) |
single nucleotide variant |
ADGRV1-related condition [RCV003407665]|Usher syndrome type 2C [RCV000765859]|not provided [RCV000180070]|not specified [RCV002509284] |
Chr5:90823559 [GRCh38] Chr5:90119376 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.16745C>T (p.Thr5582Met) |
single nucleotide variant |
not provided [RCV000180080] |
Chr5:90840711 [GRCh38] Chr5:90136528 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.16811G>A (p.Gly5604Asp) |
single nucleotide variant |
not provided [RCV000180081] |
Chr5:90840777 [GRCh38] Chr5:90136594 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5953A>C (p.Asn1985His) |
single nucleotide variant |
not provided [RCV000724008]|not specified [RCV000222295] |
Chr5:90683874 [GRCh38] Chr5:89979691 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.1374T>A (p.Phe458Leu) |
single nucleotide variant |
not provided [RCV000180374] |
Chr5:90628697 [GRCh38] Chr5:89924514 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.17669T>A (p.Met5890Lys) |
single nucleotide variant |
not provided [RCV000180414] |
Chr5:90855815 [GRCh38] Chr5:90151632 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.17735C>G (p.Ser5912Cys) |
single nucleotide variant |
not provided [RCV001521952]|not specified [RCV000180415] |
Chr5:90855881 [GRCh38] Chr5:90151698 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.18433-5del |
deletion |
not provided [RCV001701783]|not specified [RCV000180439] |
Chr5:91150010 [GRCh38] Chr5:90445827 [GRCh37] Chr5:5q14.3 |
benign|likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.18433-5dup |
duplication |
not provided [RCV001723755]|not specified [RCV000180441] |
Chr5:91150009..91150010 [GRCh38] Chr5:90445826..90445827 [GRCh37] Chr5:5q14.3 |
benign|likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.1675T>C (p.Tyr559His) |
single nucleotide variant |
not provided [RCV000180692]|not specified [RCV001195357] |
Chr5:90629375 [GRCh38] Chr5:89925192 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18804T>G (p.Gly6268=) |
single nucleotide variant |
not specified [RCV000180728] |
Chr5:91163783 [GRCh38] Chr5:90459600 [GRCh37] Chr5:5q14.3 |
likely pathogenic|likely benign |
NM_032119.4(ADGRV1):c.4975G>A (p.Glu1659Lys) |
single nucleotide variant |
not provided [RCV000176427] |
Chr5:90674099 [GRCh38] Chr5:89969916 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.267C>T (p.Ala89=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152781]|not provided [RCV000177385] |
Chr5:90617863 [GRCh38] Chr5:89913680 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.357+8C>T |
single nucleotide variant |
not provided [RCV000177386] |
Chr5:90617961 [GRCh38] Chr5:89913778 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.6684T>A (p.Ser2228=) |
single nucleotide variant |
not provided [RCV000177476] |
Chr5:90690054 [GRCh38] Chr5:89985871 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.7095G>A (p.Leu2365=) |
single nucleotide variant |
not provided [RCV000177664] |
Chr5:90692748 [GRCh38] Chr5:89988565 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.8156-6T>C |
single nucleotide variant |
not provided [RCV000177851] |
Chr5:90703659 [GRCh38] Chr5:89999476 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.8369A>G (p.Tyr2790Cys) |
single nucleotide variant |
Usher syndrome type 2C [RCV000765846]|not provided [RCV000177887] |
Chr5:90704471 [GRCh38] Chr5:90000288 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8455A>G (p.Ser2819Gly) |
single nucleotide variant |
not provided [RCV000177923] |
Chr5:90705468 [GRCh38] Chr5:90001285 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8579T>C (p.Val2860Ala) |
single nucleotide variant |
not provided [RCV000177956] |
Chr5:90706243 [GRCh38] Chr5:90002060 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8730+308T>A |
single nucleotide variant |
not provided [RCV001575744] |
Chr5:90706702 [GRCh38] Chr5:90002519 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2021A>G (p.Tyr674Cys) |
single nucleotide variant |
not provided [RCV002517943]|not specified [RCV000193989] |
Chr5:90637729 [GRCh38] Chr5:89933546 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.10697T>C (p.Ile3566Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002517942]|not provided [RCV000727165]|not specified [RCV000194558] |
Chr5:90745193 [GRCh38] Chr5:90041010 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.10213C>T (p.Arg3405Ter) |
single nucleotide variant |
not provided [RCV000255292] |
Chr5:90728720 [GRCh38] Chr5:90024537 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1608C>G (p.Tyr536Ter) |
single nucleotide variant |
Usher syndrome type 2C [RCV000721956] |
Chr5:90629308 [GRCh38] Chr5:89925125 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.8805T>G (p.Thr2935=) |
single nucleotide variant |
not provided [RCV000755796] |
Chr5:90708890 [GRCh38] Chr5:90004707 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15240T>C (p.Asn5080=) |
single nucleotide variant |
not provided [RCV000906758]|not specified [RCV000219581] |
Chr5:90810500 [GRCh38] Chr5:90106317 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8204A>G (p.Asn2735Ser) |
single nucleotide variant |
not provided [RCV000917551]|not specified [RCV000221886] |
Chr5:90703713 [GRCh38] Chr5:89999530 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.596G>T (p.Ser199Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV001267529]|Usher syndrome type 2C [RCV001154052]|not provided [RCV000755794] |
Chr5:90625167 [GRCh38] Chr5:89920984 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.3:c.16079-1455_c.16196+155del |
deletion |
Usher syndrome type 2C [RCV000210314] |
Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.14432C>T (p.Pro4811Leu) |
single nucleotide variant |
not provided [RCV000726146]|not specified [RCV000215353] |
Chr5:90791261 [GRCh38] Chr5:90087078 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.16079-11C>G |
single nucleotide variant |
not provided [RCV001569020]|not specified [RCV000217117] |
Chr5:90815608 [GRCh38] Chr5:90111425 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.9034A>G (p.Thr3012Ala) |
single nucleotide variant |
not provided [RCV001301838]|not specified [RCV000219748] |
Chr5:90711314 [GRCh38] Chr5:90007131 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13201G>A (p.Glu4401Lys) |
single nucleotide variant |
not provided [RCV001853453]|not specified [RCV000222024] |
Chr5:90781548 [GRCh38] Chr5:90077365 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16439G>A (p.Ser5480Asn) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152165]|not provided [RCV002517553]|not specified [RCV000222063] |
Chr5:90829014 [GRCh38] Chr5:90124831 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13712A>G (p.Asp4571Gly) |
single nucleotide variant |
not specified [RCV000217346] |
Chr5:90788129 [GRCh38] Chr5:90083946 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16949C>G (p.Thr5650Ser) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152169]|not provided [RCV000710436]|not specified [RCV000219785] |
Chr5:90840915 [GRCh38] Chr5:90136732 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.3(ADGRV1):c.(?_17020)-19_(17856_?)+58dup |
duplication |
not specified [RCV000219811] |
Chr5:90848618..90863915 [GRCh38] Chr5:90144435..90159732 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr) |
single nucleotide variant |
Usher syndrome type 2C [RCV000765849]|Usher syndrome type 2C [RCV001153110]|not provided [RCV000710425]|not specified [RCV000213261] |
Chr5:90763312 [GRCh38] Chr5:90059129 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.1056G>A (p.Pro352=) |
single nucleotide variant |
not provided [RCV000725571]|not specified [RCV000217397] |
Chr5:90627594 [GRCh38] Chr5:89923411 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.8995C>G (p.Gln2999Glu) |
single nucleotide variant |
Seizure [RCV001263391]|not provided [RCV001035501]|not specified [RCV000217453] |
Chr5:90711275 [GRCh38] Chr5:90007092 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14303C>T (p.Ser4768Leu) |
single nucleotide variant |
Usher syndrome type 2C [RCV000765856]|not specified [RCV000222284] |
Chr5:90791132 [GRCh38] Chr5:90086949 [GRCh37] Chr5:5q14.3 |
uncertain significance |
Single allele |
variation |
Usher syndrome, type 1 [RCV000217534] |
Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.8585A>G (p.Tyr2862Cys) |
single nucleotide variant |
not provided [RCV001235514]|not specified [RCV000219980] |
Chr5:90706249 [GRCh38] Chr5:90002066 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.2459A>G (p.Asn820Ser) |
single nucleotide variant |
not provided [RCV000726241]|not specified [RCV000220120] |
Chr5:90642947 [GRCh38] Chr5:89938764 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.12869G>A (p.Arg4290His) |
single nucleotide variant |
Inborn genetic diseases [RCV002519631]|not provided [RCV001853454]|not specified [RCV000213709] |
Chr5:90778884 [GRCh38] Chr5:90074701 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5337T>C (p.Phe1779=) |
single nucleotide variant |
not specified [RCV000213721] |
Chr5:90676103 [GRCh38] Chr5:89971920 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3816G>A (p.Leu1272=) |
single nucleotide variant |
not provided [RCV002057108]|not specified [RCV000213746] |
Chr5:90653390 [GRCh38] Chr5:89949207 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1799A>G (p.Asn600Ser) |
single nucleotide variant |
ADGRV1-related condition [RCV003422120]|Inborn genetic diseases [RCV003343710]|not provided [RCV002519632]|not specified [RCV000215523] |
Chr5:90629499 [GRCh38] Chr5:89925316 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154284]|not provided [RCV000710446]|not specified [RCV000217849] |
Chr5:90651609 [GRCh38] Chr5:89947426 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.4864T>C (p.Tyr1622His) |
single nucleotide variant |
not provided [RCV000839196]|not specified [RCV000220203] |
Chr5:90672657 [GRCh38] Chr5:89968474 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.11579C>T (p.Pro3860Leu) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151869]|not provided [RCV001054099]|not specified [RCV000220256] |
Chr5:90755184 [GRCh38] Chr5:90051001 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14119G>T (p.Asp4707Tyr) |
single nucleotide variant |
Usher syndrome type 1 [RCV000213866] |
Chr5:90790948 [GRCh38] Chr5:90086765 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.9181A>G (p.Ile3061Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155534]|not provided [RCV001242790]|not specified [RCV000215611] |
Chr5:90712425 [GRCh38] Chr5:90008242 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14885G>A (p.Trp4962Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000217974] |
Chr5:90807650 [GRCh38] Chr5:90103467 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.5460G>A (p.Arg1820=) |
single nucleotide variant |
not specified [RCV000217981] |
Chr5:90679565 [GRCh38] Chr5:89975382 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18621G>A (p.Glu6207=) |
single nucleotide variant |
not provided [RCV000943398]|not specified [RCV000220470] |
Chr5:91150218 [GRCh38] Chr5:90446035 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12654T>C (p.Ile4218=) |
single nucleotide variant |
not provided [RCV001462013]|not specified [RCV000215697] |
Chr5:90778031 [GRCh38] Chr5:90073848 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.222C>T (p.Asp74=) |
single nucleotide variant |
not provided [RCV000726477]|not specified [RCV000215787] |
Chr5:90617818 [GRCh38] Chr5:89913635 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.466G>A (p.Ala156Thr) |
single nucleotide variant |
not provided [RCV001231185]|not specified [RCV000218086] |
Chr5:90622609 [GRCh38] Chr5:89918426 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.17204+7A>G |
single nucleotide variant |
not provided [RCV003311715]|not specified [RCV000220565] |
Chr5:90848828 [GRCh38] Chr5:90144645 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18803-4G>T |
single nucleotide variant |
Usher syndrome type 2C [RCV001153549]|not provided [RCV000916382]|not specified [RCV000214092] |
Chr5:91163778 [GRCh38] Chr5:90459595 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.10466G>A (p.Gly3489Glu) |
single nucleotide variant |
Usher syndrome type 2C [RCV002503854]|not provided [RCV001550741]|not specified [RCV000214152] |
Chr5:90729681 [GRCh38] Chr5:90025498 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2023A>C (p.Ile675Leu) |
single nucleotide variant |
not provided [RCV000726032]|not specified [RCV000214173] |
Chr5:90637731 [GRCh38] Chr5:89933548 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.3370G>A (p.Glu1124Lys) |
single nucleotide variant |
not specified [RCV000215967] |
Chr5:90651684 [GRCh38] Chr5:89947501 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12283G>A (p.Glu4095Lys) |
single nucleotide variant |
not specified [RCV000218239] |
Chr5:90763467 [GRCh38] Chr5:90059284 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17856+10C>T |
single nucleotide variant |
not provided [RCV001430241]|not specified [RCV000222476] |
Chr5:90863867 [GRCh38] Chr5:90159684 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.328G>A (p.Glu110Lys) |
single nucleotide variant |
not provided [RCV001240566]|not specified [RCV000222486] |
Chr5:90617924 [GRCh38] Chr5:89913741 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.8779G>A (p.Val2927Ile) |
single nucleotide variant |
not provided [RCV000767096]|not specified [RCV000214320] |
Chr5:90708864 [GRCh38] Chr5:90004681 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.14466G>A (p.Val4822=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152054]|not provided [RCV000886131]|not specified [RCV000216137] |
Chr5:90791295 [GRCh38] Chr5:90087112 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.5102A>G (p.His1701Arg) |
single nucleotide variant |
not provided [RCV002517554]|not specified [RCV000220895] |
Chr5:90674226 [GRCh38] Chr5:89970043 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16098C>T (p.Gly5366=) |
single nucleotide variant |
not specified [RCV000222579] |
Chr5:90815638 [GRCh38] Chr5:90111455 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys) |
single nucleotide variant |
not provided [RCV000725783]|not specified [RCV000214466] |
Chr5:90627571 [GRCh38] Chr5:89923388 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.18195T>C (p.Ala6065=) |
single nucleotide variant |
not provided [RCV000916401]|not specified [RCV000216213] |
Chr5:91072489 [GRCh38] Chr5:90368306 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16258C>A (p.Gln5420Lys) |
single nucleotide variant |
not provided [RCV001853410]|not specified [RCV000216228] |
Chr5:90823486 [GRCh38] Chr5:90119303 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.640G>A (p.Val214Ile) |
single nucleotide variant |
not specified [RCV000214624] |
Chr5:90625211 [GRCh38] Chr5:89921028 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7748A>G (p.Tyr2583Cys) |
single nucleotide variant |
not provided [RCV001070126]|not specified [RCV000216359] |
Chr5:90694504 [GRCh38] Chr5:89990321 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14185G>A (p.Asp4729Asn) |
single nucleotide variant |
not provided [RCV002519606]|not specified [RCV000218726] |
Chr5:90791014 [GRCh38] Chr5:90086831 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12101T>G (p.Phe4034Cys) |
single nucleotide variant |
Rare genetic deafness [RCV000221151] |
Chr5:90759569 [GRCh38] Chr5:90055386 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.305A>G (p.Asp102Gly) |
single nucleotide variant |
not specified [RCV000222908] |
Chr5:90617901 [GRCh38] Chr5:89913718 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=) |
single nucleotide variant |
not provided [RCV000725569]|not specified [RCV000222926] |
Chr5:90791202 [GRCh38] Chr5:90087019 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.7129C>T (p.Arg2377Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000214702] |
Chr5:90692782 [GRCh38] Chr5:89988599 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.17205-10T>G |
single nucleotide variant |
not specified [RCV000218894] |
Chr5:90853274 [GRCh38] Chr5:90149091 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7176C>G (p.Ser2392=) |
single nucleotide variant |
not provided [RCV001458519]|not specified [RCV000218978] |
Chr5:90693932 [GRCh38] Chr5:89989749 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met) |
single nucleotide variant |
not provided [RCV000726030]|not specified [RCV000221347] |
Chr5:90674196 [GRCh38] Chr5:89970013 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.1239-8C>G |
single nucleotide variant |
Usher syndrome type 2C [RCV000210295] |
Chr5:90628554 [GRCh38] Chr5:89924371 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002517552]|Usher syndrome type 2C [RCV001152053]|not provided [RCV000726662]|not specified [RCV000214817] |
Chr5:90791261 [GRCh38] Chr5:90087078 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.11411G>A (p.Arg3804Gln) |
single nucleotide variant |
not specified [RCV000216623] |
Chr5:90755016 [GRCh38] Chr5:90050833 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.-26_-9del |
deletion |
not specified [RCV000219154] |
Chr5:90558870..90558887 [GRCh38] Chr5:89854687..89854704 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16640G>A (p.Arg5547His) |
single nucleotide variant |
Meniere disease [RCV001797069]|not provided [RCV000726656]|not specified [RCV000215082] |
Chr5:90840606 [GRCh38] Chr5:90136423 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.1701del (p.Leu568fs) |
deletion |
Rare genetic deafness [RCV000221685] |
Chr5:90629398 [GRCh38] Chr5:89925215 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.12350G>A (p.Arg4117His) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155720]|not provided [RCV000733207]|not specified [RCV000221729] |
Chr5:90774250 [GRCh38] Chr5:90070067 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.7571T>A (p.Val2524Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002517555]|Usher syndrome type 2C [RCV000765843]|not provided [RCV001207709]|not specified [RCV000223316] |
Chr5:90694327 [GRCh38] Chr5:89990144 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.564G>C (p.Glu188Asp) |
single nucleotide variant |
not provided [RCV000224149] |
Chr5:90625135 [GRCh38] Chr5:89920952 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5504_5507del (p.Leu1835fs) |
microsatellite |
Retinal dystrophy [RCV000225506] |
Chr5:90679604..90679607 [GRCh38] Chr5:89975421..89975424 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.14157A>G (p.Leu4719=) |
single nucleotide variant |
not provided [RCV000756978] |
Chr5:90790986 [GRCh38] Chr5:90086803 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1953A>T (p.Glu651Asp) |
single nucleotide variant |
not specified [RCV000239007] |
Chr5:90635227 [GRCh38] Chr5:89931044 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11941-24_11941-5del |
deletion |
not specified [RCV000605474] |
Chr5:90759379..90759398 [GRCh38] Chr5:90055196..90055215 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18433-17_18433-16insCT |
insertion |
Usher syndrome type 2C [RCV001703210]|not provided [RCV001704819] |
Chr5:91150012..91150013 [GRCh38] Chr5:90445829..90445830 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.17187C>T (p.Cys5729=) |
single nucleotide variant |
not provided [RCV000372182] |
Chr5:90848804 [GRCh38] Chr5:90144621 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002521901]|Usher syndrome type 2C [RCV000765860]|not provided [RCV000371450] |
Chr5:90863759 [GRCh38] Chr5:90159576 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.12008T>C (p.Ile4003Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002519320]|Usher syndrome type 2C [RCV002494884]|not provided [RCV000305262] |
Chr5:90759476 [GRCh38] Chr5:90055293 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15177G>T (p.Gln5059His) |
single nucleotide variant |
not provided [RCV000710434]|not specified [RCV000376440] |
Chr5:90810437 [GRCh38] Chr5:90106254 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser) |
single nucleotide variant |
Usher syndrome type 2C [RCV000765858]|Usher syndrome type 2C [RCV001153318]|not provided [RCV000725653]|not specified [RCV000377249] |
Chr5:90810429 [GRCh38] Chr5:90106246 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.5313+4A>G |
single nucleotide variant |
Usher syndrome type 2C [RCV001155225]|not provided [RCV000375857] |
Chr5:90675449 [GRCh38] Chr5:89971266 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1480G>C (p.Gly494Arg) |
single nucleotide variant |
not provided [RCV000378585] |
Chr5:90628803 [GRCh38] Chr5:89924620 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3938A>G (p.His1313Arg) |
single nucleotide variant |
not provided [RCV000378853] |
Chr5:90653512 [GRCh38] Chr5:89949329 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5264C>T (p.Ala1755Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV001330109]|not provided [RCV000276635] |
Chr5:90675396 [GRCh38] Chr5:89971213 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.17933A>G (p.His5978Arg) |
single nucleotide variant |
Usher syndrome [RCV001731567]|not provided [RCV000309426] |
Chr5:90965491 [GRCh38] Chr5:90261308 [GRCh37] Chr5:5q14.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.6568A>G (p.Ile2190Val) |
single nucleotide variant |
not provided [RCV000309692] |
Chr5:90689938 [GRCh38] Chr5:89985755 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11253C>T (p.Tyr3751=) |
single nucleotide variant |
not provided [RCV000343323] |
Chr5:90753705 [GRCh38] Chr5:90049522 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.13654-5C>T |
single nucleotide variant |
Usher syndrome [RCV003389469]|Usher syndrome type 2C [RCV001155813]|not provided [RCV000900722]|not specified [RCV000343101] |
Chr5:90788066 [GRCh38] Chr5:90083883 [GRCh37] Chr5:5q14.3 |
likely pathogenic|benign|likely benign |
NM_032119.4(ADGRV1):c.17857-6T>C |
single nucleotide variant |
not provided [RCV000343901] |
Chr5:90965409 [GRCh38] Chr5:90261226 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.5658A>G (p.Thr1886=) |
single nucleotide variant |
not provided [RCV000345314] |
Chr5:90681448 [GRCh38] Chr5:89977265 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153445]|not provided [RCV000710437] |
Chr5:90848725 [GRCh38] Chr5:90144542 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.5830G>T (p.Asp1944Tyr) |
single nucleotide variant |
Usher syndrome type 2C [RCV001374879]|not provided [RCV000382480] |
Chr5:90683751 [GRCh38] Chr5:89979568 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.13153A>G (p.Ile4385Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002521982]|Usher syndrome type 2C [RCV001151953]|not provided [RCV000314800] |
Chr5:90781500 [GRCh38] Chr5:90077317 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.15987C>T (p.Tyr5329=) |
single nucleotide variant |
Retinal dystrophy [RCV001074279]|not provided [RCV000314994] |
Chr5:90811247 [GRCh38] Chr5:90107064 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.8295G>T (p.Leu2765Phe) |
single nucleotide variant |
Usher syndrome type 2C [RCV002479998]|not provided [RCV000384444] |
Chr5:90704397 [GRCh38] Chr5:90000214 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.5537T>C (p.Val1846Ala) |
single nucleotide variant |
not provided [RCV000385105] |
Chr5:90681327 [GRCh38] Chr5:89977144 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8292G>A (p.Ser2764=) |
single nucleotide variant |
not provided [RCV000281931] |
Chr5:90704394 [GRCh38] Chr5:90000211 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.8738T>C (p.Val2913Ala) |
single nucleotide variant |
not provided [RCV000282038] |
Chr5:90708823 [GRCh38] Chr5:90004640 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2820A>G (p.Val940=) |
single nucleotide variant |
not provided [RCV000316660]|not specified [RCV000825097] |
Chr5:90644791 [GRCh38] Chr5:89940608 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.15334C>T (p.Arg5112Cys) |
single nucleotide variant |
not provided [RCV000351243] |
Chr5:90810594 [GRCh38] Chr5:90106411 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.6338A>G (p.Asn2113Ser) |
single nucleotide variant |
not provided [RCV000387378] |
Chr5:90685843 [GRCh38] Chr5:89981660 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.17215A>G (p.Ile5739Val) |
single nucleotide variant |
not provided [RCV000319090] |
Chr5:90853294 [GRCh38] Chr5:90149111 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.684T>C (p.Asn228=) |
single nucleotide variant |
not provided [RCV000353953] |
Chr5:90627222 [GRCh38] Chr5:89923039 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.9329G>A (p.Gly3110Glu) |
single nucleotide variant |
not provided [RCV000388402] |
Chr5:90716611 [GRCh38] Chr5:90012428 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8815C>T (p.Pro2939Ser) |
single nucleotide variant |
not provided [RCV000725549]|not specified [RCV000388577] |
Chr5:90708900 [GRCh38] Chr5:90004717 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.5578G>A (p.Ala1860Thr) |
single nucleotide variant |
not provided [RCV000389889] |
Chr5:90681368 [GRCh38] Chr5:89977185 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.2567A>G (p.Tyr856Cys) |
single nucleotide variant |
not provided [RCV000388643] |
Chr5:90643816 [GRCh38] Chr5:89939633 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8004C>T (p.Asp2668=) |
single nucleotide variant |
not provided [RCV000319497] |
Chr5:90696995 [GRCh38] Chr5:89992812 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.8671G>T (p.Gly2891Cys) |
single nucleotide variant |
not provided [RCV000319692] |
Chr5:90706335 [GRCh38] Chr5:90002152 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2576T>C (p.Val859Ala) |
single nucleotide variant |
not provided [RCV000391317] |
Chr5:90643825 [GRCh38] Chr5:89939642 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17973+7A>G |
single nucleotide variant |
not provided [RCV000392756] |
Chr5:90965538 [GRCh38] Chr5:90261355 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.3819G>A (p.Arg1273=) |
single nucleotide variant |
not provided [RCV000288423] |
Chr5:90653393 [GRCh38] Chr5:89949210 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.2816A>G (p.Asp939Gly) |
single nucleotide variant |
not provided [RCV000323316] |
Chr5:90644787 [GRCh38] Chr5:89940604 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4550G>T (p.Arg1517Ile) |
single nucleotide variant |
not provided [RCV000393018] |
Chr5:90658076 [GRCh38] Chr5:89953893 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.10736C>T (p.Ala3579Val) |
single nucleotide variant |
not provided [RCV000392752] |
Chr5:90745232 [GRCh38] Chr5:90041049 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18402G>T (p.Leu6134Phe) |
single nucleotide variant |
not provided [RCV000393804] |
Chr5:91102310 [GRCh38] Chr5:90398127 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7806C>G (p.Pro2602=) |
single nucleotide variant |
not provided [RCV000725570]|not specified [RCV000325043] |
Chr5:90694562 [GRCh38] Chr5:89990379 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.9635T>C (p.Ile3212Thr) |
single nucleotide variant |
Usher syndrome type 2C [RCV000765847]|not provided [RCV000394411] |
Chr5:90720946 [GRCh38] Chr5:90016763 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.16248C>G (p.Val5416=) |
single nucleotide variant |
not provided [RCV000361251] |
Chr5:90823476 [GRCh38] Chr5:90119293 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.13621G>A (p.Glu4541Lys) |
single nucleotide variant |
not provided [RCV000262995] |
Chr5:90784025 [GRCh38] Chr5:90079842 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15059C>A (p.Thr5020Lys) |
single nucleotide variant |
not provided [RCV000364792] |
Chr5:90810319 [GRCh38] Chr5:90106136 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.16226G>A (p.Arg5409Gln) |
single nucleotide variant |
not provided [RCV000400246] |
Chr5:90823454 [GRCh38] Chr5:90119271 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.155G>A (p.Arg52His) |
single nucleotide variant |
Usher syndrome type 2C [RCV001731561]|not provided [RCV000297704] |
Chr5:90614967 [GRCh38] Chr5:89910784 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.2991T>C (p.Ile997=) |
single nucleotide variant |
not provided [RCV000330872] |
Chr5:90646060 [GRCh38] Chr5:89941877 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.8730+9C>T |
single nucleotide variant |
not specified [RCV000329999] |
Chr5:90706403 [GRCh38] Chr5:90002220 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.357+5G>A |
single nucleotide variant |
not provided [RCV000330124] |
Chr5:90617958 [GRCh38] Chr5:89913775 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3022+8T>C |
single nucleotide variant |
Usher syndrome type 2C [RCV001156671]|not provided [RCV000365755] |
Chr5:90646099 [GRCh38] Chr5:89941916 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.8401G>A (p.Gly2801Arg) |
single nucleotide variant |
not provided [RCV000584970] |
Chr5:90705414 [GRCh38] Chr5:90001231 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.1411G>C (p.Val471Leu) |
single nucleotide variant |
Usher syndrome type 2C [RCV001330107]|not provided [RCV000403322] |
Chr5:90628734 [GRCh38] Chr5:89924551 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.8842G>A (p.Ala2948Thr) |
single nucleotide variant |
Seizure [RCV001255053]|not provided [RCV000299456] |
Chr5:90710998 [GRCh38] Chr5:90006815 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.17884A>T (p.Ser5962Cys) |
single nucleotide variant |
not provided [RCV000299547] |
Chr5:90965442 [GRCh38] Chr5:90261259 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1131T>G (p.Ser377=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154898]|not provided [RCV000955342]|not specified [RCV000332416] |
Chr5:90627669 [GRCh38] Chr5:89923486 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.6229G>A (p.Glu2077Lys) |
single nucleotide variant |
not provided [RCV000404734] |
Chr5:90684150 [GRCh38] Chr5:89979967 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.14317A>G (p.Ile4773Val) |
single nucleotide variant |
not provided [RCV000402246] |
Chr5:90791146 [GRCh38] Chr5:90086963 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14931A>G (p.Leu4977=) |
single nucleotide variant |
not provided [RCV000269453]|not specified [RCV001700027] |
Chr5:90807696 [GRCh38] Chr5:90103513 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.2740T>C (p.Tyr914His) |
single nucleotide variant |
Inborn genetic diseases [RCV002519279]|not provided [RCV000302523] |
Chr5:90644711 [GRCh38] Chr5:89940528 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.4487A>G (p.Tyr1496Cys) |
single nucleotide variant |
Usher syndrome type 2C [RCV000764617]|not provided [RCV000302563] |
Chr5:90658013 [GRCh38] Chr5:89953830 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.5379T>C (p.Thr1793=) |
single nucleotide variant |
not provided [RCV000370141] |
Chr5:90676145 [GRCh38] Chr5:89971962 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.5192C>T (p.Thr1731Ile) |
single nucleotide variant |
not provided [RCV000370162] |
Chr5:90675324 [GRCh38] Chr5:89971141 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14616A>G (p.Ala4872=) |
single nucleotide variant |
not provided [RCV000371526] |
Chr5:90802837 [GRCh38] Chr5:90098654 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12176C>T (p.Thr4059Met) |
single nucleotide variant |
not provided [RCV000371698] |
Chr5:90763360 [GRCh38] Chr5:90059177 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.18144T>C (p.His6048=) |
single nucleotide variant |
not provided [RCV000406802] |
Chr5:90985514 [GRCh38] Chr5:90281331 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.12818A>G (p.His4273Arg) |
single nucleotide variant |
Usher syndrome type 2C [RCV002491203]|not provided [RCV000593923] |
Chr5:90778578 [GRCh38] Chr5:90074395 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.8471G>T (p.Gly2824Val) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV000735241] |
Chr5:90705484 [GRCh38] Chr5:90001301 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13996A>G (p.Ile4666Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155819]|not provided [RCV001049967]|not specified [RCV003230529] |
Chr5:90789804 [GRCh38] Chr5:90085621 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.17621A>G (p.Lys5874Arg) |
single nucleotide variant |
not provided [RCV000487764] |
Chr5:90855767 [GRCh38] Chr5:90151584 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14836+254A>G |
single nucleotide variant |
not provided [RCV001548013] |
Chr5:90805712 [GRCh38] Chr5:90101529 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16658C>A (p.Ala5553Asp) |
single nucleotide variant |
not provided [RCV000585617] |
Chr5:90840624 [GRCh38] Chr5:90136441 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.442T>C (p.Ser148Pro) |
single nucleotide variant |
not provided [RCV000487988] |
Chr5:90619170 [GRCh38] Chr5:89914987 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.15833G>T (p.Gly5278Val) |
single nucleotide variant |
not provided [RCV000594180] |
Chr5:90811093 [GRCh38] Chr5:90106910 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6116A>G (p.Asp2039Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003169876]|not provided [RCV001368171] |
Chr5:90684037 [GRCh38] Chr5:89979854 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14779G>T (p.Ala4927Ser) |
single nucleotide variant |
not provided [RCV003314900] |
Chr5:90805401 [GRCh38] Chr5:90101218 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15984del (p.Tyr5329fs) |
deletion |
not provided [RCV000594919] |
Chr5:90811244 [GRCh38] Chr5:90107061 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16994G>C (p.Ser5665Thr) |
single nucleotide variant |
not provided [RCV000595010] |
Chr5:90840960 [GRCh38] Chr5:90136777 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NC_000005.9:g.(?_86400000)_(154000000_?)del |
deletion |
Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] |
Chr5:86400000..154000000 [GRCh37] Chr5:5q14.3-33.2 |
pathogenic |
NM_032119.4(ADGRV1):c.13358A>G (p.His4453Arg) |
single nucleotide variant |
Usher syndrome type 2C [RCV000765854]|not provided [RCV000490059]|not specified [RCV001195219] |
Chr5:90783250 [GRCh38] Chr5:90079067 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.2723C>G (p.Ala908Gly) |
single nucleotide variant |
not provided [RCV000596398] |
Chr5:90643972 [GRCh38] Chr5:89939789 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7829T>C (p.Ile2610Thr) |
single nucleotide variant |
not provided [RCV000596827] |
Chr5:90694585 [GRCh38] Chr5:89990402 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8870G>A (p.Gly2957Glu) |
single nucleotide variant |
not provided [RCV001860248]|not specified [RCV000604664] |
Chr5:90711026 [GRCh38] Chr5:90006843 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18349G>A (p.Val6117Met) |
single nucleotide variant |
not provided [RCV001045577]|not specified [RCV000605282] |
Chr5:91102257 [GRCh38] Chr5:90398074 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13536del (p.Phe4514fs) |
deletion |
not provided [RCV001052033] |
Chr5:90783940 [GRCh38] Chr5:90079757 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.10620T>G (p.Ser3540=) |
single nucleotide variant |
not provided [RCV001429023] |
Chr5:90745116 [GRCh38] Chr5:90040933 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1466C>T (p.Pro489Leu) |
single nucleotide variant |
not specified [RCV000606438] |
Chr5:90628789 [GRCh38] Chr5:89924606 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18879C>T (p.Ile6293=) |
single nucleotide variant |
not provided [RCV000710439] |
Chr5:91163858 [GRCh38] Chr5:90459675 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.137C>T (p.Thr46Ile) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152777]|not provided [RCV003433049] |
Chr5:90614949 [GRCh38] Chr5:89910766 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.170G>A (p.Arg57Lys) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152778] |
Chr5:90614982 [GRCh38] Chr5:89910799 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.627del (p.Gly210fs) |
deletion |
not provided [RCV000592231] |
Chr5:90625198 [GRCh38] Chr5:89921015 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.3580G>C (p.Asp1194His) |
single nucleotide variant |
not provided [RCV001203063]|not specified [RCV000600844] |
Chr5:90652509 [GRCh38] Chr5:89948326 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.8198G>T (p.Arg2733Leu) |
single nucleotide variant |
not provided [RCV001860253]|not specified [RCV000606270] |
Chr5:90703707 [GRCh38] Chr5:89999524 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6290G>A (p.Arg2097His) |
single nucleotide variant |
Inborn genetic diseases [RCV002532674]|not provided [RCV000591847] |
Chr5:90685795 [GRCh38] Chr5:89981612 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17204+4A>T |
single nucleotide variant |
not provided [RCV000591892] |
Chr5:90848825 [GRCh38] Chr5:90144642 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18610G>A (p.Gly6204Ser) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152271]|not provided [RCV002032404] |
Chr5:91150207 [GRCh38] Chr5:90446024 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17388G>A (p.Gln5796=) |
single nucleotide variant |
not provided [RCV000595973] |
Chr5:90853467 [GRCh38] Chr5:90149284 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter) |
single nucleotide variant |
Usher syndrome type 2C [RCV000763551]|not provided [RCV000598600] |
Chr5:90848679 [GRCh38] Chr5:90144496 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.9765G>A (p.Val3255=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151757] |
Chr5:90724848 [GRCh38] Chr5:90020665 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14959G>A (p.Gly4987Arg) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV001334319]|Inborn genetic diseases [RCV002532503]|Usher syndrome type 2C [RCV001152059]|not provided [RCV000597017] |
Chr5:90807724 [GRCh38] Chr5:90103541 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.2375A>C (p.Glu792Ala) |
single nucleotide variant |
not provided [RCV000592877] |
Chr5:90642863 [GRCh38] Chr5:89938680 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18433-9_18433-5del |
deletion |
not provided [RCV000592954] |
Chr5:91150010..91150014 [GRCh38] Chr5:90445838..90445842 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3116C>T (p.Ala1039Val) |
single nucleotide variant |
not provided [RCV000523133] |
Chr5:90647591 [GRCh38] Chr5:89943408 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10054-3C>T |
single nucleotide variant |
not provided [RCV000597876] |
Chr5:90725546 [GRCh38] Chr5:90021363 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13654-7C>T |
single nucleotide variant |
not provided [RCV000593152] |
Chr5:90788064 [GRCh38] Chr5:90083881 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.10322G>C (p.Gly3441Ala) |
single nucleotide variant |
not provided [RCV000593274] |
Chr5:90728829 [GRCh38] Chr5:90024646 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.17869G>A (p.Ala5957Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002532655]|not provided [RCV000593378] |
Chr5:90965427 [GRCh38] Chr5:90261244 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.10906A>G (p.Ile3636Val) |
single nucleotide variant |
not provided [RCV000593427] |
Chr5:90745727 [GRCh38] Chr5:90041544 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs) |
deletion |
Usher syndrome type 2C [RCV000987544]|not provided [RCV000599234] |
Chr5:90855814..90855815 [GRCh38] Chr5:90151631..90151632 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.12197_12209delinsTGGGA (p.Gly4066fs) |
indel |
not provided [RCV000599357] |
Chr5:90763381..90763393 [GRCh38] Chr5:90059198..90059210 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.18229G>A (p.Val6077Met) |
single nucleotide variant |
not provided [RCV000593568] |
Chr5:91072523 [GRCh38] Chr5:90368340 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3563T>C (p.Ile1188Thr) |
single nucleotide variant |
not provided [RCV000593656] |
Chr5:90652492 [GRCh38] Chr5:89948309 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.12641A>G (p.Gln4214Arg) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151948] |
Chr5:90778018 [GRCh38] Chr5:90073835 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8272C>G (p.Leu2758Val) |
single nucleotide variant |
not provided [RCV000597318] |
Chr5:90703781 [GRCh38] Chr5:89999598 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6187T>C (p.Leu2063=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154486]|not provided [RCV000894742]|not specified [RCV000604507] |
Chr5:90684108 [GRCh38] Chr5:89979925 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.5835G>A (p.Lys1945=) |
single nucleotide variant |
not provided [RCV000591109] |
Chr5:90683756 [GRCh38] Chr5:89979573 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.5969T>C (p.Val1990Ala) |
single nucleotide variant |
Hearing impairment [RCV001375441]|not provided [RCV002529339]|not specified [RCV000599806] |
Chr5:90683890 [GRCh38] Chr5:89979707 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12682A>G (p.Ile4228Val) |
single nucleotide variant |
not provided [RCV000591249] |
Chr5:90778442 [GRCh38] Chr5:90074259 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.4781G>A (p.Cys1594Tyr) |
single nucleotide variant |
not provided [RCV000591326] |
Chr5:90672574 [GRCh38] Chr5:89968391 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12403+6A>G |
single nucleotide variant |
not provided [RCV000591383] |
Chr5:90774309 [GRCh38] Chr5:90070126 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15009C>T (p.Gly5003=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152060]|not provided [RCV002070844] |
Chr5:90810269 [GRCh38] Chr5:90106086 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.4251del (p.Lys1417fs) |
deletion |
not provided [RCV000598233] |
Chr5:90653823 [GRCh38] Chr5:89949640 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.17777C>T (p.Ser5926Phe) |
single nucleotide variant |
not specified [RCV000600353] |
Chr5:90863778 [GRCh38] Chr5:90159595 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2543G>A (p.Gly848Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002532570]|not provided [RCV000591486] |
Chr5:90643031 [GRCh38] Chr5:89938848 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17613G>A (p.Gln5871=) |
single nucleotide variant |
not provided [RCV000591554]|not specified [RCV000825104] |
Chr5:90855759 [GRCh38] Chr5:90151576 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.15832G>T (p.Gly5278Cys) |
single nucleotide variant |
not provided [RCV000591601] |
Chr5:90811092 [GRCh38] Chr5:90106909 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12931G>T (p.Ala4311Ser) |
single nucleotide variant |
not provided [RCV000592073] |
Chr5:90778946 [GRCh38] Chr5:90074763 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.-98G>A |
single nucleotide variant |
Usher syndrome type 2C [RCV001158258]|not provided [RCV001683653]|not specified [RCV000734479] |
Chr5:90558798 [GRCh38] Chr5:89854615 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.956dup (p.Asn319fs) |
duplication |
Retinal dystrophy [RCV001074761]|Usher syndrome type 2C [RCV001544532]|not provided [RCV000414704] |
Chr5:90627490..90627491 [GRCh38] Chr5:89923307..89923308 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.12778G>T (p.Val4260Leu) |
single nucleotide variant |
not provided [RCV000594094] |
Chr5:90778538 [GRCh38] Chr5:90074355 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.8111T>C (p.Ile2704Thr) |
single nucleotide variant |
not provided [RCV000595180] |
Chr5:90697102 [GRCh38] Chr5:89992919 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14304G>A (p.Ser4768=) |
single nucleotide variant |
not provided [RCV000730226] |
Chr5:90791133 [GRCh38] Chr5:90086950 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16963G>A (p.Val5655Met) |
single nucleotide variant |
not provided [RCV000730230] |
Chr5:90840929 [GRCh38] Chr5:90136746 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2885C>G (p.Ser962Cys) |
single nucleotide variant |
not provided [RCV000731062] |
Chr5:90644856 [GRCh38] Chr5:89940673 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1210G>A (p.Val404Ile) |
single nucleotide variant |
not provided [RCV000731063] |
Chr5:90627748 [GRCh38] Chr5:89923565 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16009G>T (p.Gly5337Trp) |
single nucleotide variant |
not provided [RCV000731099] |
Chr5:90811269 [GRCh38] Chr5:90107086 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12368dup (p.Ser4124fs) |
duplication |
not provided [RCV000734314] |
Chr5:90774267..90774268 [GRCh38] Chr5:90070084..90070085 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.600A>G (p.Pro200=) |
single nucleotide variant |
not provided [RCV000732177] |
Chr5:90625171 [GRCh38] Chr5:89920988 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.11940G>T (p.Gln3980His) |
single nucleotide variant |
not provided [RCV000733123] |
Chr5:90757161 [GRCh38] Chr5:90052978 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6524T>C (p.Val2175Ala) |
single nucleotide variant |
not provided [RCV000728515] |
Chr5:90689894 [GRCh38] Chr5:89985711 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.5784C>T (p.Ser1928=) |
single nucleotide variant |
not provided [RCV000728601] |
Chr5:90683705 [GRCh38] Chr5:89979522 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.15669G>A (p.Gly5223=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155930]|not provided [RCV000889571]|not specified [RCV000733202] |
Chr5:90810929 [GRCh38] Chr5:90106746 [GRCh37] Chr5:5q14.3 |
benign|likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14223C>T (p.Ala4741=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157522]|not provided [RCV000889570]|not specified [RCV000733205] |
Chr5:90791052 [GRCh38] Chr5:90086869 [GRCh37] Chr5:5q14.3 |
benign|likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.8791A>G (p.Met2931Val) |
single nucleotide variant |
not provided [RCV000595560] |
Chr5:90708876 [GRCh38] Chr5:90004693 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18782T>C (p.Leu6261Ser) |
single nucleotide variant |
not provided [RCV000730423] |
Chr5:91153378 [GRCh38] Chr5:90449195 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.12464C>T (p.Pro4155Leu) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157415]|Usher syndrome type 2C [RCV002477712]|not provided [RCV000732354] |
Chr5:90776513 [GRCh38] Chr5:90072330 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.18348C>T (p.Ser6116=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157759]|not provided [RCV000594333] |
Chr5:91102256 [GRCh38] Chr5:90398073 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.12373A>G (p.Ile4125Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003258956]|not provided [RCV000734483] |
Chr5:90774273 [GRCh38] Chr5:90070090 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.11122-1G>C |
single nucleotide variant |
Usher syndrome type 2C [RCV000735713] |
Chr5:90753573 [GRCh38] Chr5:90049390 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.6859G>A (p.Val2287Ile) |
single nucleotide variant |
not provided [RCV000733909] |
Chr5:90690949 [GRCh38] Chr5:89986766 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.3203G>A (p.Arg1068Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002535436]|Usher syndrome type 2C [RCV000735734]|not provided [RCV001218072] |
Chr5:90647678 [GRCh38] Chr5:89943495 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15353G>A (p.Ser5118Asn) |
single nucleotide variant |
Usher syndrome type 2C [RCV000735735] |
Chr5:90810613 [GRCh38] Chr5:90106430 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1189A>G (p.Ser397Gly) |
single nucleotide variant |
not provided [RCV000733422] |
Chr5:90627727 [GRCh38] Chr5:89923544 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1801G>T (p.Asp601Tyr) |
single nucleotide variant |
not provided [RCV000731549] |
Chr5:90629501 [GRCh38] Chr5:89925318 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18884A>C (p.Glu6295Ala) |
single nucleotide variant |
not provided [RCV000732637] |
Chr5:91163863 [GRCh38] Chr5:90459680 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11138G>T (p.Gly3713Val) |
single nucleotide variant |
not provided [RCV000732644] |
Chr5:90753590 [GRCh38] Chr5:90049407 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7588G>C (p.Asp2530His) |
single nucleotide variant |
Inborn genetic diseases [RCV003303218]|not provided [RCV000732652] |
Chr5:90694344 [GRCh38] Chr5:89990161 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11122-2A>G |
single nucleotide variant |
not provided [RCV000413287] |
Chr5:90753572 [GRCh38] Chr5:90049389 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16325G>A (p.Gly5442Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002533099]|Usher syndrome type 2C [RCV001157636]|not provided [RCV000729117] |
Chr5:90823553 [GRCh38] Chr5:90119370 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152995]|not provided [RCV000731855]|not specified [RCV000825099] |
Chr5:90725644 [GRCh38] Chr5:90021461 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.11410C>T (p.Arg3804Ter) |
single nucleotide variant |
not provided [RCV000413951] |
Chr5:90755015 [GRCh38] Chr5:90050832 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.14928C>T (p.His4976=) |
single nucleotide variant |
not provided [RCV000728065] |
Chr5:90807693 [GRCh38] Chr5:90103510 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.8807C>G (p.Ser2936Ter) |
single nucleotide variant |
Usher syndrome [RCV000504781] |
Chr5:90708892 [GRCh38] Chr5:90004709 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter) |
single nucleotide variant |
Retinal dystrophy [RCV001075449]|Usher syndrome [RCV000504819]|not provided [RCV001381661] |
Chr5:90778558 [GRCh38] Chr5:90074375 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.14517G>C (p.Gln4839His) |
single nucleotide variant |
Usher syndrome [RCV000504938] |
Chr5:90791346 [GRCh38] Chr5:90087163 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.17314C>T (p.Arg5772Ter) |
single nucleotide variant |
Usher syndrome [RCV000505136]|not provided [RCV000710438] |
Chr5:90853393 [GRCh38] Chr5:90149210 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg) |
single nucleotide variant |
Usher syndrome type 2C [RCV000454263] |
Chr5:90728933 [GRCh38] Chr5:90024750 [GRCh37] Chr5:5q14.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=) |
single nucleotide variant |
Usher syndrome type 2C [RCV000454318] |
Chr5:90644869 [GRCh38] Chr5:89940686 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.11549A>G (p.Lys3850Arg) |
single nucleotide variant |
not provided [RCV000441920] |
Chr5:90755154 [GRCh38] Chr5:90050971 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9496T>G (p.Tyr3166Asp) |
single nucleotide variant |
not provided [RCV001303326]|not specified [RCV000421133] |
Chr5:90720096 [GRCh38] Chr5:90015913 [GRCh37] Chr5:5q14.3 |
benign|likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.17235T>G (p.Tyr5745Ter) |
single nucleotide variant |
not provided [RCV000417723] |
Chr5:90853314 [GRCh38] Chr5:90149131 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) |
copy number gain |
See cases [RCV000510723] |
Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
NM_032119.4(ADGRV1):c.11941-4A>G |
single nucleotide variant |
not specified [RCV000421836] |
Chr5:90759405 [GRCh38] Chr5:90055222 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17756-5T>C |
single nucleotide variant |
not provided [RCV000978388] |
Chr5:90863752 [GRCh38] Chr5:90159569 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.16436A>G (p.Asn5479Ser) |
single nucleotide variant |
not provided [RCV001054812] |
Chr5:90829011 [GRCh38] Chr5:90124828 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.12935G>T (p.Gly4312Val) |
single nucleotide variant |
not provided [RCV001229005] |
Chr5:90778950 [GRCh38] Chr5:90074767 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16989A>T (p.Gln5663His) |
single nucleotide variant |
not specified [RCV001195359] |
Chr5:90840955 [GRCh38] Chr5:90136772 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7954A>G (p.Lys2652Glu) |
single nucleotide variant |
not specified [RCV001195360] |
Chr5:90696945 [GRCh38] Chr5:89992762 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4377C>T (p.Asp1459=) |
single nucleotide variant |
not provided [RCV000432568] |
Chr5:90653951 [GRCh38] Chr5:89949768 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13434-6A>G |
single nucleotide variant |
not specified [RCV000426364] |
Chr5:90783832 [GRCh38] Chr5:90079649 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg) |
single nucleotide variant |
Usher syndrome type 2C [RCV000765855]|Usher syndrome type 2C [RCV001153219]|not provided [RCV000433926]|not specified [RCV000507824] |
Chr5:90783274 [GRCh38] Chr5:90079091 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.13231+4G>C |
single nucleotide variant |
not provided [RCV000437322] |
Chr5:90781582 [GRCh38] Chr5:90077399 [GRCh37] Chr5:5q14.3 |
uncertain significance |
GRCh37/hg19 5q14.3(chr5:90147215-90441146)x1 |
copy number loss |
See cases [RCV000448125] |
Chr5:90147215..90441146 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12436C>T (p.Arg4146Ter) |
single nucleotide variant |
Usher syndrome type 2C [RCV000416421] |
Chr5:90776485 [GRCh38] Chr5:90072302 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.14366G>A (p.Arg4789Gln) |
single nucleotide variant |
not provided [RCV000482131] |
Chr5:90791195 [GRCh38] Chr5:90087012 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.17992G>A (p.Val5998Met) |
single nucleotide variant |
Usher syndrome type 2C [RCV000477828]|not provided [RCV001057228]|not specified [RCV003155199] |
Chr5:90985362 [GRCh38] Chr5:90281179 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15980TCT[1] (p.Phe5328del) |
microsatellite |
not provided [RCV000485519] |
Chr5:90811239..90811241 [GRCh38] Chr5:90107056..90107058 [GRCh37] Chr5:5q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.14975C>G (p.Ser4992Ter) |
single nucleotide variant |
ADGRV1-Related Disorders [RCV003323562]|not provided [RCV000486698] |
Chr5:90810235 [GRCh38] Chr5:90106052 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.12542C>T (p.Pro4181Leu) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157421]|not provided [RCV000497527]|not specified [RCV001195218] |
Chr5:90777919 [GRCh38] Chr5:90073736 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 5q14.3(chr5:90452865-90494075)x1 |
copy number loss |
See cases [RCV000510421] |
Chr5:90452865..90494075 [GRCh37] Chr5:5q14.3 |
uncertain significance |
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 |
copy number loss |
See cases [RCV000511978] |
Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2 |
pathogenic |
NM_032119.4(ADGRV1):c.17683G>A (p.Val5895Ile) |
single nucleotide variant |
not provided [RCV001857256]|not specified [RCV000506164] |
Chr5:90855829 [GRCh38] Chr5:90151646 [GRCh37] Chr5:5q14.3 |
uncertain significance |
GRCh37/hg19 5q14.3(chr5:90016797-90257532)x1 |
copy number loss |
See cases [RCV000511749] |
Chr5:90016797..90257532 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys) |
single nucleotide variant |
Usher syndrome type 2C [RCV000765853]|not provided [RCV001347959]|not specified [RCV000506499] |
Chr5:90778997 [GRCh38] Chr5:90074814 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 |
copy number gain |
See cases [RCV000512039] |
Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
NM_032119.4(ADGRV1):c.17276A>G (p.Asn5759Ser) |
single nucleotide variant |
not specified [RCV000507340] |
Chr5:90853355 [GRCh38] Chr5:90149172 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9661G>A (p.Val3221Met) |
single nucleotide variant |
Retinal dystrophy [RCV001075228]|not provided [RCV000492811] |
Chr5:90720972 [GRCh38] Chr5:90016789 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.10411_10412delinsAG (p.Glu3471Arg) |
indel |
not provided [RCV000492997] |
Chr5:90728918..90728919 [GRCh38] Chr5:90024735..90024736 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1051A>G (p.Ile351Val) |
single nucleotide variant |
not provided [RCV000493081] |
Chr5:90627589 [GRCh38] Chr5:89923406 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5707T>A (p.Trp1903Arg) |
single nucleotide variant |
not provided [RCV000507806] |
Chr5:90683628 [GRCh38] Chr5:89979445 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp) |
single nucleotide variant |
Rare genetic deafness [RCV000609544]|Retinal dystrophy [RCV001073322]|not provided [RCV000493267] |
Chr5:90791194 [GRCh38] Chr5:90087011 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.2302G>T (p.Glu768Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000605491] |
Chr5:90642697 [GRCh38] Chr5:89938514 [GRCh37] Chr5:5q14.3 |
pathogenic |
GRCh37/hg19 5q14.3(chr5:87764485-90147447)x1 |
copy number loss |
See cases [RCV000511258] |
Chr5:87764485..90147447 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.17936A>G (p.Tyr5979Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003291973] |
Chr5:90965494 [GRCh38] Chr5:90261311 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6552C>T (p.Ala2184=) |
single nucleotide variant |
not provided [RCV002065201]|not specified [RCV000601433] |
Chr5:90689922 [GRCh38] Chr5:89985739 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12010T>G (p.Ser4004Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003282161] |
Chr5:90759478 [GRCh38] Chr5:90055295 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14022G>A (p.Lys4674=) |
single nucleotide variant |
not specified [RCV000604258] |
Chr5:90789830 [GRCh38] Chr5:90085647 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8784A>T (p.Gly2928=) |
single nucleotide variant |
not specified [RCV000599988] |
Chr5:90708869 [GRCh38] Chr5:90004686 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2538G>A (p.Leu846=) |
single nucleotide variant |
not provided [RCV000597454] |
Chr5:90643026 [GRCh38] Chr5:89938843 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.1093G>T (p.Asp365Tyr) |
single nucleotide variant |
Febrile seizures, familial, 1 [RCV000626111]|not provided [RCV002533150] |
Chr5:90627631 [GRCh38] Chr5:89923448 [GRCh37] Chr5:5q14.3 |
likely pathogenic|uncertain significance |
NM_032119.4(ADGRV1):c.15832_15833delinsTT (p.Gly5278Phe) |
indel |
not provided [RCV000595525] |
Chr5:90811092..90811093 [GRCh38] Chr5:90106909..90106910 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.265G>A (p.Ala89Thr) |
single nucleotide variant |
not provided [RCV000598258] |
Chr5:90617861 [GRCh38] Chr5:89913678 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18181T>A (p.Leu6061Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003287649] |
Chr5:91072475 [GRCh38] Chr5:90368292 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.705A>G (p.Gln235=) |
single nucleotide variant |
not provided [RCV001055119]|not specified [RCV000606944] |
Chr5:90627243 [GRCh38] Chr5:89923060 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.17794A>C (p.Arg5932=) |
single nucleotide variant |
not provided [RCV000594070] |
Chr5:90863795 [GRCh38] Chr5:90159612 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.8386G>C (p.Gly2796Arg) |
single nucleotide variant |
not specified [RCV000607710] |
Chr5:90704488 [GRCh38] Chr5:90000305 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17594+8T>C |
single nucleotide variant |
not specified [RCV000607837] |
Chr5:90854209 [GRCh38] Chr5:90150026 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2596C>T (p.Arg866Trp) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155013]|not provided [RCV000595268]|not specified [RCV000785014] |
Chr5:90643845 [GRCh38] Chr5:89939662 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.10051C>T (p.Leu3351=) |
single nucleotide variant |
not provided [RCV000595445] |
Chr5:90725230 [GRCh38] Chr5:90021047 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.1547G>A (p.Gly516Asp) |
single nucleotide variant |
not provided [RCV003313445] |
Chr5:90629247 [GRCh38] Chr5:89925064 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6648G>T (p.Gly2216=) |
single nucleotide variant |
not provided [RCV002532718]|not specified [RCV000609549] |
Chr5:90690018 [GRCh38] Chr5:89985835 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15300G>A (p.Arg5100=) |
single nucleotide variant |
not specified [RCV000615091] |
Chr5:90810560 [GRCh38] Chr5:90106377 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5792T>A (p.Ile1931Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003240507] |
Chr5:90683713 [GRCh38] Chr5:89979530 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11999C>T (p.Thr4000Met) |
single nucleotide variant |
not provided [RCV002528775]|not specified [RCV000612353] |
Chr5:90759467 [GRCh38] Chr5:90055284 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15719C>T (p.Thr5240Ile) |
single nucleotide variant |
not provided [RCV002509465]|not specified [RCV000615108] |
Chr5:90810979 [GRCh38] Chr5:90106796 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.3180G>A (p.Thr1060=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151211]|not provided [RCV001396688]|not specified [RCV000615250] |
Chr5:90647655 [GRCh38] Chr5:89943472 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV001267530]|Usher syndrome type 2C [RCV001151215]|not provided [RCV001304754]|not specified [RCV000606863] |
Chr5:90647744 [GRCh38] Chr5:89943561 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.6275-9G>T |
single nucleotide variant |
not provided [RCV002060630]|not specified [RCV000601462] |
Chr5:90685771 [GRCh38] Chr5:89981588 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.2759G>A (p.Arg920Gln) |
single nucleotide variant |
not provided [RCV001052448]|not specified [RCV000612526] |
Chr5:90644730 [GRCh38] Chr5:89940547 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.9477G>A (p.Thr3159=) |
single nucleotide variant |
not specified [RCV000615823] |
Chr5:90720077 [GRCh38] Chr5:90015894 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14889G>A (p.Thr4963=) |
single nucleotide variant |
not provided [RCV001411938]|not specified [RCV000607100] |
Chr5:90807654 [GRCh38] Chr5:90103471 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7907A>G (p.Asp2636Gly) |
single nucleotide variant |
not provided [RCV001854139]|not specified [RCV000607108] |
Chr5:90694663 [GRCh38] Chr5:89990480 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6951+13G>A |
single nucleotide variant |
Usher syndrome type 2C [RCV001151571]|not provided [RCV001509872]|not specified [RCV000605906] |
Chr5:90691054 [GRCh38] Chr5:89986871 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.3704A>G (p.Asn1235Ser) |
single nucleotide variant |
not provided [RCV001237864]|not specified [RCV000607159] |
Chr5:90653278 [GRCh38] Chr5:89949095 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12332T>C (p.Val4111Ala) |
single nucleotide variant |
not provided [RCV002531146]|not specified [RCV000601798] |
Chr5:90774232 [GRCh38] Chr5:90070049 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18211T>A (p.Cys6071Ser) |
single nucleotide variant |
not specified [RCV000609927] |
Chr5:91072505 [GRCh38] Chr5:90368322 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12148G>A (p.Asp4050Asn) |
single nucleotide variant |
not provided [RCV000905883]|not specified [RCV000610046] |
Chr5:90763332 [GRCh38] Chr5:90059149 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6489T>C (p.Ala2163=) |
single nucleotide variant |
not specified [RCV000615477] |
Chr5:90685994 [GRCh38] Chr5:89981811 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18001A>T (p.Met6001Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002532719]|Usher syndrome type 2C [RCV001156037]|Usher syndrome type 2C [RCV002483669]|not provided [RCV001238549]|not specified [RCV000615485] |
Chr5:90985371 [GRCh38] Chr5:90281188 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.18903C>T (p.Ile6301=) |
single nucleotide variant |
not provided [RCV000882704]|not specified [RCV000615953] |
Chr5:91163882 [GRCh38] Chr5:90459699 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002531124]|Usher syndrome type 2C [RCV001153547]|Usher syndrome type 2C [RCV002491231]|not provided [RCV000756977]|not specified [RCV000610200] |
Chr5:91153350 [GRCh38] Chr5:90449167 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.15893C>T (p.Thr5298Ile) |
single nucleotide variant |
not provided [RCV001228039]|not specified [RCV000607401] |
Chr5:90811153 [GRCh38] Chr5:90106970 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17857-11G>A |
single nucleotide variant |
not specified [RCV000613078] |
Chr5:90965404 [GRCh38] Chr5:90261221 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15G>C (p.Leu5=) |
single nucleotide variant |
not specified [RCV000613170] |
Chr5:90558910 [GRCh38] Chr5:89854727 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16190C>T (p.Pro5397Leu) |
single nucleotide variant |
not provided [RCV002529310]|not specified [RCV000613349] |
Chr5:90815730 [GRCh38] Chr5:90111547 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9642C>T (p.Ile3214=) |
single nucleotide variant |
not provided [RCV000842357]|not specified [RCV000616499] |
Chr5:90720953 [GRCh38] Chr5:90016770 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11178T>A (p.Asp3726Glu) |
single nucleotide variant |
not provided [RCV002528796]|not specified [RCV000613426] |
Chr5:90753630 [GRCh38] Chr5:90049447 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16447T>C (p.Phe5483Leu) |
single nucleotide variant |
not provided [RCV001327498]|not specified [RCV000613469] |
Chr5:90829022 [GRCh38] Chr5:90124839 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.18519G>T (p.Gly6173=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152270]|not provided [RCV001397560]|not specified [RCV000608113] |
Chr5:91150116 [GRCh38] Chr5:90445933 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.10952A>G (p.Tyr3651Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003302928]|not provided [RCV001408422]|not specified [RCV000610828] |
Chr5:90745773 [GRCh38] Chr5:90041590 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10873C>G (p.Leu3625Val) |
single nucleotide variant |
Retinal dystrophy [RCV001075454]|not provided [RCV001350482]|not specified [RCV000613546] |
Chr5:90745694 [GRCh38] Chr5:90041511 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.9324A>C (p.Ala3108=) |
single nucleotide variant |
not specified [RCV000616781] |
Chr5:90716606 [GRCh38] Chr5:90012423 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1085T>C (p.Leu362Ser) |
single nucleotide variant |
not provided [RCV000595157] |
Chr5:90627623 [GRCh38] Chr5:89923440 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2017-5A>G |
single nucleotide variant |
not specified [RCV000608270] |
Chr5:90637720 [GRCh38] Chr5:89933537 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.453+8C>T |
single nucleotide variant |
not provided [RCV000897500]|not specified [RCV000610889] |
Chr5:90619189 [GRCh38] Chr5:89915006 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16874C>T (p.Ser5625Leu) |
single nucleotide variant |
Usher syndrome type 2C [RCV002506447]|not provided [RCV001317551]|not specified [RCV000613754] |
Chr5:90840840 [GRCh38] Chr5:90136657 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14719G>A (p.Val4907Ile) |
single nucleotide variant |
not provided [RCV001227797]|not specified [RCV000613755] |
Chr5:90805341 [GRCh38] Chr5:90101158 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.18125A>G (p.Gln6042Arg) |
single nucleotide variant |
not specified [RCV000613842] |
Chr5:90985495 [GRCh38] Chr5:90281312 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.2284C>T (p.Arg762Cys) |
single nucleotide variant |
not provided [RCV001448513]|not specified [RCV000616899] |
Chr5:90642679 [GRCh38] Chr5:89938496 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17204+4A>G |
single nucleotide variant |
Usher syndrome type 2C [RCV001153447]|not provided [RCV001298601]|not specified [RCV000608513] |
Chr5:90848825 [GRCh38] Chr5:90144642 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9557C>A (p.Thr3186Asn) |
single nucleotide variant |
not specified [RCV000608521] |
Chr5:90720157 [GRCh38] Chr5:90015974 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12202G>A (p.Gly4068Arg) |
single nucleotide variant |
not specified [RCV000611164] |
Chr5:90763386 [GRCh38] Chr5:90059203 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4965T>C (p.Pro1655=) |
single nucleotide variant |
not provided [RCV001477148]|not specified [RCV000613868] |
Chr5:90674089 [GRCh38] Chr5:89969906 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14575G>A (p.Gly4859Ser) |
single nucleotide variant |
not provided [RCV002529358]|not specified [RCV000613973] |
Chr5:90802796 [GRCh38] Chr5:90098613 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.8300C>T (p.Thr2767Ile) |
single nucleotide variant |
not specified [RCV000606359] |
Chr5:90704402 [GRCh38] Chr5:90000219 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6290G>T (p.Arg2097Leu) |
single nucleotide variant |
not provided [RCV001854148]|not specified [RCV000608778] |
Chr5:90685795 [GRCh38] Chr5:89981612 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5214A>G (p.Glu1738=) |
single nucleotide variant |
not specified [RCV000611405] |
Chr5:90675346 [GRCh38] Chr5:89971163 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.929G>A (p.Gly310Glu) |
single nucleotide variant |
not provided [RCV001038199]|not specified [RCV000611584] |
Chr5:90627467 [GRCh38] Chr5:89923284 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13072C>T (p.Leu4358Phe) |
single nucleotide variant |
not specified [RCV000614255] |
Chr5:90779087 [GRCh38] Chr5:90074904 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8172C>T (p.Phe2724=) |
single nucleotide variant |
not provided [RCV001521730]|not specified [RCV000595746] |
Chr5:90703681 [GRCh38] Chr5:89999498 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.14043+7C>T |
single nucleotide variant |
Usher syndrome type 2C [RCV001157521]|not provided [RCV002529347]|not specified [RCV000609048] |
Chr5:90789858 [GRCh38] Chr5:90085675 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.10614A>G (p.Gln3538=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157308]|not provided [RCV000838597]|not specified [RCV000611601] |
Chr5:90745110 [GRCh38] Chr5:90040927 [GRCh37] Chr5:5q14.3 |
benign|likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.1237A>C (p.Arg413=) |
single nucleotide variant |
not specified [RCV000611792] |
Chr5:90627775 [GRCh38] Chr5:89923592 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12516C>T (p.Thr4172=) |
single nucleotide variant |
not specified [RCV000614626] |
Chr5:90776565 [GRCh38] Chr5:90072382 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.9054T>G (p.Phe3018Leu) |
single nucleotide variant |
not provided [RCV001227016]|not specified [RCV000604616] |
Chr5:90712298 [GRCh38] Chr5:90008115 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.10550-7C>T |
single nucleotide variant |
Usher syndrome type 2C [RCV001155646]|not provided [RCV000728588] |
Chr5:90745039 [GRCh38] Chr5:90040856 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.15750G>T (p.Gly5250=) |
single nucleotide variant |
not specified [RCV000609351] |
Chr5:90811010 [GRCh38] Chr5:90106827 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13600A>G (p.Met4534Val) |
single nucleotide variant |
not specified [RCV000609366] |
Chr5:90784004 [GRCh38] Chr5:90079821 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.10768A>T (p.Ser3590Cys) |
single nucleotide variant |
not provided [RCV001245971]|not specified [RCV000614895] |
Chr5:90745264 [GRCh38] Chr5:90041081 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.3841G>A (p.Val1281Ile) |
single nucleotide variant |
not specified [RCV000601811] |
Chr5:90653415 [GRCh38] Chr5:89949232 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.838A>T (p.Ile280Leu) |
single nucleotide variant |
not specified [RCV000601945] |
Chr5:90627376 [GRCh38] Chr5:89923193 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1292C>T (p.Ala431Val) |
single nucleotide variant |
not provided [RCV001368848]|not specified [RCV000603736] |
Chr5:90628615 [GRCh38] Chr5:89924432 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14719G>T (p.Val4907Phe) |
single nucleotide variant |
Usher syndrome type 2C [RCV000765857]|not specified [RCV000600025] |
Chr5:90805341 [GRCh38] Chr5:90101158 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17454+10C>T |
single nucleotide variant |
not specified [RCV000607774] |
Chr5:90853543 [GRCh38] Chr5:90149360 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153106]|not provided [RCV000710424]|not specified [RCV000595742] |
Chr5:90757026 [GRCh38] Chr5:90052843 [GRCh37] Chr5:5q14.3 |
benign|likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000602394]|Retinal dystrophy [RCV001073335]|Usher syndrome type 2C [RCV002221563]|not provided [RCV001382658] |
Chr5:90724960 [GRCh38] Chr5:90020777 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.12823C>T (p.Gln4275Ter) |
single nucleotide variant |
not provided [RCV000594440] |
Chr5:90778583 [GRCh38] Chr5:90074400 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.754A>G (p.Ile252Val) |
single nucleotide variant |
not provided [RCV000595980] |
Chr5:90627292 [GRCh38] Chr5:89923109 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14496C>A (p.Asp4832Glu) |
single nucleotide variant |
not specified [RCV000605661] |
Chr5:90791325 [GRCh38] Chr5:90087142 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6952G>T (p.Val2318Phe) |
single nucleotide variant |
Usher syndrome type 2C [RCV000626262] |
Chr5:90692605 [GRCh38] Chr5:89988422 [GRCh37] Chr5:5q14.3 |
pathogenic|uncertain significance |
NM_032119.4(ADGRV1):c.17349A>G (p.Ala5783=) |
single nucleotide variant |
not provided [RCV000596260] |
Chr5:90853428 [GRCh38] Chr5:90149245 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.11426T>A (p.Leu3809His) |
single nucleotide variant |
Inborn genetic diseases [RCV003160071]|not provided [RCV001868030]|not specified [RCV000605800] |
Chr5:90755031 [GRCh38] Chr5:90050848 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11115A>T (p.Ser3705=) |
single nucleotide variant |
Usher syndrome type 2C [RCV002506446]|not provided [RCV000826330]|not specified [RCV000600409] |
Chr5:90750691 [GRCh38] Chr5:90046508 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.4712C>T (p.Ala1571Val) |
single nucleotide variant |
not provided [RCV000597298] |
Chr5:90658238 [GRCh38] Chr5:89954055 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13130C>A (p.Pro4377His) |
single nucleotide variant |
not provided [RCV000597338] |
Chr5:90781477 [GRCh38] Chr5:90077294 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.968T>C (p.Ile323Thr) |
single nucleotide variant |
not specified [RCV000606227] |
Chr5:90627506 [GRCh38] Chr5:89923323 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12704A>G (p.Tyr4235Cys) |
single nucleotide variant |
Usher syndrome type 2C [RCV000765852]|Usher syndrome type 2C [RCV001151949]|not provided [RCV001323988]|not specified [RCV000606387] |
Chr5:90778464 [GRCh38] Chr5:90074281 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.12849+5_12849+6insAA |
insertion |
not provided [RCV001860240]|not specified [RCV000605940] |
Chr5:90778613..90778614 [GRCh38] Chr5:90074431..90074432 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16165T>C (p.Leu5389=) |
single nucleotide variant |
not provided [RCV002531684]|not specified [RCV000606292] |
Chr5:90815705 [GRCh38] Chr5:90111522 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5188A>T (p.Ile1730Phe) |
single nucleotide variant |
Cerebral arteriovenous malformation [RCV000626976] |
Chr5:90675320 [GRCh38] Chr5:89971137 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10736_10737del (p.Ala3579fs) |
deletion |
Retinal dystrophy [RCV001073723]|not provided [RCV000627429] |
Chr5:90745232..90745233 [GRCh38] Chr5:90041049..90041050 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.9918A>G (p.Ile3306Met) |
single nucleotide variant |
not provided [RCV001860343]|not specified [RCV000601339] |
Chr5:90725097 [GRCh38] Chr5:90020914 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met) |
single nucleotide variant |
ADGRV1-related condition [RCV003411565]|Abnormal activity of mitochondrial respiratory chain [RCV001375131]|Usher syndrome type 2C [RCV000764616]|Usher syndrome type 2C [RCV001155124]|not provided [RCV000659018]|not specified [RCV002282295] |
Chr5:90653548 [GRCh38] Chr5:89949365 [GRCh37] Chr5:5q14.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 5q14.3(chr5:89864064-89889132)x1 |
copy number loss |
not provided [RCV000682577] |
Chr5:89864064..89889132 [GRCh37] Chr5:5q14.3 |
uncertain significance |
GRCh37/hg19 5q14.3(chr5:89998096-90138849)x1 |
copy number loss |
not provided [RCV000682578] |
Chr5:89998096..90138849 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4108T>G (p.Phe1370Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV000678573] |
Chr5:90653682 [GRCh38] Chr5:89949499 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13537C>A (p.Pro4513Thr) |
single nucleotide variant |
Febrile seizures, familial, 1 [RCV000714796]|not provided [RCV001349420] |
Chr5:90783941 [GRCh38] Chr5:90079758 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1055C>T (p.Pro352Leu) |
single nucleotide variant |
Autosomal recessive sensorineural hearing loss [RCV000681534]|Hearing loss, autosomal recessive [RCV001291205]|not provided [RCV002544706] |
Chr5:90627593 [GRCh38] Chr5:89923410 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
t(5;13)(q13;q14)dn |
translocation |
not specified [RCV000714267] |
Chr5:90358558..90358561 [GRCh37] Chr13:64518064..64518067 [GRCh37] Chr13:13q21.31 Chr5:5q14.3 |
uncertain significance |
GRCh37/hg19 5q14.3-15(chr5:87399001-92675748)x3 |
copy number gain |
not provided [RCV000682576] |
Chr5:87399001..92675748 [GRCh37] Chr5:5q14.3-15 |
likely pathogenic |
NM_032119.4(ADGRV1):c.4271G>A (p.Trp1424Ter) |
single nucleotide variant |
Usher syndrome type 2C [RCV001807945] |
Chr5:90653845 [GRCh38] Chr5:89949662 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.4786G>A (p.Val1596Ile) |
single nucleotide variant |
not provided [RCV000710449] |
Chr5:90672579 [GRCh38] Chr5:89968396 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.10801A>G (p.Arg3601Gly) |
single nucleotide variant |
Usher syndrome type 2C [RCV002485784]|not provided [RCV000710420] |
Chr5:90745622 [GRCh38] Chr5:90041439 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12979G>A (p.Gly4327Arg) |
single nucleotide variant |
not provided [RCV000710429] |
Chr5:90778994 [GRCh38] Chr5:90074811 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2307T>A (p.Asn769Lys) |
single nucleotide variant |
not provided [RCV000710444] |
Chr5:90642702 [GRCh38] Chr5:89938519 [GRCh37] Chr5:5q14.3 |
uncertain significance |
GRCh37/hg19 5q14.3(chr5:90239532-90488172)x3 |
copy number gain |
not provided [RCV000845830] |
Chr5:90239532..90488172 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12804A>T (p.Arg4268=) |
single nucleotide variant |
not provided [RCV001565640] |
Chr5:90778564 [GRCh38] Chr5:90074381 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3022+113A>G |
single nucleotide variant |
not provided [RCV001548528] |
Chr5:90646204 [GRCh38] Chr5:89942021 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14210T>C (p.Val4737Ala) |
single nucleotide variant |
not provided [RCV001051905] |
Chr5:90791039 [GRCh38] Chr5:90086856 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17742T>C (p.Phe5914=) |
single nucleotide variant |
not provided [RCV001566871] |
Chr5:90855888 [GRCh38] Chr5:90151705 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1364T>G (p.Val455Gly) |
single nucleotide variant |
not specified [RCV001002062] |
Chr5:90628687 [GRCh38] Chr5:89924504 [GRCh37] Chr5:5q14.3 |
uncertain significance |
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 |
copy number gain |
not provided [RCV000744323] |
Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
NM_032119.4(ADGRV1):c.2734+205G>C |
single nucleotide variant |
not provided [RCV001582070] |
Chr5:90644188 [GRCh38] Chr5:89940005 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2317G>A (p.Gly773Arg) |
single nucleotide variant |
not provided [RCV001571316] |
Chr5:90642712 [GRCh38] Chr5:89938529 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity |
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 |
copy number gain |
not provided [RCV000744317] |
Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5q14.3-15(chr5:87512314-95096562)x1 |
copy number loss |
not provided [RCV000744913] |
Chr5:87512314..95096562 [GRCh37] Chr5:5q14.3-15 |
pathogenic |
GRCh37/hg19 5q14.3(chr5:89858793-89914907)x3 |
copy number gain |
not provided [RCV000744929] |
Chr5:89858793..89914907 [GRCh37] Chr5:5q14.3 |
benign |
GRCh37/hg19 5q14.3(chr5:89994983-90126770)x1 |
copy number loss |
not provided [RCV000744930] |
Chr5:89994983..90126770 [GRCh37] Chr5:5q14.3 |
likely benign |
GRCh37/hg19 5q14.3(chr5:90209824-90753517)x3 |
copy number gain |
not provided [RCV000744931] |
Chr5:90209824..90753517 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.558+103_558+110del |
deletion |
not provided [RCV001539910] |
Chr5:90622804..90622811 [GRCh38] Chr5:89918621..89918628 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.17204+30C>A |
single nucleotide variant |
not provided [RCV001667285] |
Chr5:90848851 [GRCh38] Chr5:90144668 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.17454+53G>C |
single nucleotide variant |
not provided [RCV001584712] |
Chr5:90853586 [GRCh38] Chr5:90149403 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6214G>A (p.Glu2072Lys) |
single nucleotide variant |
not provided [RCV001964190] |
Chr5:90684135 [GRCh38] Chr5:89979952 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17856+21T>A |
single nucleotide variant |
not provided [RCV001678885] |
Chr5:90863878 [GRCh38] Chr5:90159695 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.18802+40C>G |
single nucleotide variant |
not provided [RCV001583340] |
Chr5:91153438 [GRCh38] Chr5:90449255 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7946-158T>A |
single nucleotide variant |
not provided [RCV001544715] |
Chr5:90696779 [GRCh38] Chr5:89992596 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16197-148A>T |
single nucleotide variant |
not provided [RCV001564403] |
Chr5:90823277 [GRCh38] Chr5:90119094 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4753-197G>C |
single nucleotide variant |
not provided [RCV001668734] |
Chr5:90672349 [GRCh38] Chr5:89968166 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.16611+279A>G |
single nucleotide variant |
not provided [RCV001565104] |
Chr5:90829465 [GRCh38] Chr5:90125282 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16079-160T>C |
single nucleotide variant |
not provided [RCV001534194] |
Chr5:90815459 [GRCh38] Chr5:90111276 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1238+142AC[24] |
microsatellite |
not provided [RCV001611796] |
Chr5:90627917..90627918 [GRCh38] Chr5:89923734..89923735 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.9748+184G>A |
single nucleotide variant |
not provided [RCV001725263] |
Chr5:90721243 [GRCh38] Chr5:90017060 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.2109C>T (p.Thr703=) |
single nucleotide variant |
not provided [RCV000919217] |
Chr5:90637817 [GRCh38] Chr5:89933634 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3289+89T>C |
single nucleotide variant |
not provided [RCV001574936] |
Chr5:90647853 [GRCh38] Chr5:89943670 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.22+62A>G |
single nucleotide variant |
not provided [RCV001548129] |
Chr5:90558979 [GRCh38] Chr5:89854796 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1839+222A>G |
single nucleotide variant |
not provided [RCV001680889] |
Chr5:90629761 [GRCh38] Chr5:89925578 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.9624-328A>G |
single nucleotide variant |
not provided [RCV001681811] |
Chr5:90720607 [GRCh38] Chr5:90016424 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.3592G>T (p.Glu1198Ter) |
single nucleotide variant |
not provided [RCV001586446] |
Chr5:90652521 [GRCh38] Chr5:89948338 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.18433-15T>C |
single nucleotide variant |
not provided [RCV001575427] |
Chr5:91150015 [GRCh38] Chr5:90445832 [GRCh37] Chr5:5q14.3 |
likely benign |
NC_000005.10:g.(90694702_90696936)_(90829187_90840577)del |
deletion |
Usher syndrome type 2C [RCV000761221] |
Chr5:90696936..90829187 [GRCh38] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.9748+2T>C |
single nucleotide variant |
Usher syndrome type 2C [RCV001002708] |
Chr5:90721061 [GRCh38] Chr5:90016878 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1094A>G (p.Asp365Gly) |
single nucleotide variant |
not provided [RCV000755793] |
Chr5:90627632 [GRCh38] Chr5:89923449 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6844A>G (p.Thr2282Ala) |
single nucleotide variant |
not provided [RCV001053304] |
Chr5:90690934 [GRCh38] Chr5:89986751 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.5351G>A (p.Arg1784Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002569045]|not provided [RCV001569033] |
Chr5:90676117 [GRCh38] Chr5:89971934 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.13655dup (p.Asn4553fs) |
duplication |
Usher syndrome type 2C [RCV000987540]|not provided [RCV001869346] |
Chr5:90788071..90788072 [GRCh38] Chr5:90083888..90083889 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.10709del (p.Gly3570fs) |
deletion |
not provided [RCV001060772] |
Chr5:90745203 [GRCh38] Chr5:90041020 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.6706+275C>G |
single nucleotide variant |
not provided [RCV001544714] |
Chr5:90690351 [GRCh38] Chr5:89986168 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3346G>T (p.Asp1116Tyr) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154287]|not provided [RCV000991487] |
Chr5:90651660 [GRCh38] Chr5:89947477 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6728T>C (p.Ile2243Thr) |
single nucleotide variant |
not provided [RCV000991488] |
Chr5:90690818 [GRCh38] Chr5:89986635 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.22+309A>G |
single nucleotide variant |
not provided [RCV001571926] |
Chr5:90559226 [GRCh38] Chr5:89855043 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.357+229T>A |
single nucleotide variant |
not provided [RCV001569415] |
Chr5:90618182 [GRCh38] Chr5:89913999 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2241-149T>A |
single nucleotide variant |
not provided [RCV001709807] |
Chr5:90642487 [GRCh38] Chr5:89938304 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.9624-304del |
deletion |
not provided [RCV001641247] |
Chr5:90720626 [GRCh38] Chr5:90016443 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.13893+202T>A |
single nucleotide variant |
not provided [RCV001565337] |
Chr5:90788512 [GRCh38] Chr5:90084329 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2380G>A (p.Val794Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003268744] |
Chr5:90642868 [GRCh38] Chr5:89938685 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8567-286G>A |
single nucleotide variant |
not provided [RCV001580991] |
Chr5:90705945 [GRCh38] Chr5:90001762 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14662-248del |
deletion |
not provided [RCV001546274] |
Chr5:90805030 [GRCh38] Chr5:90100847 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16780C>A (p.Arg5594Ser) |
single nucleotide variant |
not provided [RCV001663665] |
Chr5:90840746 [GRCh38] Chr5:90136563 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5266G>A (p.Glu1756Lys) |
single nucleotide variant |
not provided [RCV001056601] |
Chr5:90675398 [GRCh38] Chr5:89971215 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2734+176A>G |
single nucleotide variant |
not provided [RCV001566652] |
Chr5:90644159 [GRCh38] Chr5:89939976 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3509A>C (p.Tyr1170Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001581097] |
Chr5:90652438 [GRCh38] Chr5:89948255 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.10882C>T (p.Pro3628Ser) |
single nucleotide variant |
not provided [RCV000755795] |
Chr5:90745703 [GRCh38] Chr5:90041520 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9749-323G>A |
single nucleotide variant |
not provided [RCV001578056] |
Chr5:90724509 [GRCh38] Chr5:90020326 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3292G>A (p.Asp1098Asn) |
single nucleotide variant |
not provided [RCV001057514] |
Chr5:90651606 [GRCh38] Chr5:89947423 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7945+27C>T |
single nucleotide variant |
not provided [RCV001574913] |
Chr5:90694728 [GRCh38] Chr5:89990545 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14546C>G (p.Thr4849Ser) |
single nucleotide variant |
Usher syndrome type 2C [RCV002479351]|not provided [RCV001057900] |
Chr5:90802767 [GRCh38] Chr5:90098584 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4379-1G>A |
single nucleotide variant |
Retinitis pigmentosa [RCV000787529]|not provided [RCV001869188] |
Chr5:90657904 [GRCh38] Chr5:89953721 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.9623+1G>A |
single nucleotide variant |
not provided [RCV001575207] |
Chr5:90720224 [GRCh38] Chr5:90016041 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.5313+153C>T |
single nucleotide variant |
not provided [RCV001575909] |
Chr5:90675598 [GRCh38] Chr5:89971415 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2899-262T>C |
single nucleotide variant |
not provided [RCV001583065] |
Chr5:90645706 [GRCh38] Chr5:89941523 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14973-110A>C |
single nucleotide variant |
not provided [RCV001583123] |
Chr5:90810123 [GRCh38] Chr5:90105940 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14691C>T (p.Leu4897=) |
single nucleotide variant |
not provided [RCV001702992] |
Chr5:90805313 [GRCh38] Chr5:90101130 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9447+63C>G |
single nucleotide variant |
not provided [RCV001576051] |
Chr5:90716792 [GRCh38] Chr5:90012609 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6490+170G>A |
single nucleotide variant |
not provided [RCV001725260] |
Chr5:90686165 [GRCh38] Chr5:89981982 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.9748+216C>T |
single nucleotide variant |
not provided [RCV001725267] |
Chr5:90721275 [GRCh38] Chr5:90017092 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12286-325T>C |
single nucleotide variant |
not provided [RCV001690585] |
Chr5:90773861 [GRCh38] Chr5:90069678 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.7718A>G (p.Asn2573Ser) |
single nucleotide variant |
not provided [RCV000998405] |
Chr5:90694474 [GRCh38] Chr5:89990291 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8050A>G (p.Ile2684Val) |
single nucleotide variant |
not provided [RCV000998406] |
Chr5:90697041 [GRCh38] Chr5:89992858 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4753-182T>C |
single nucleotide variant |
not provided [RCV001576231] |
Chr5:90672364 [GRCh38] Chr5:89968181 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2240+306dup |
duplication |
not provided [RCV001725520] |
Chr5:90638244..90638245 [GRCh38] Chr5:89934061..89934062 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.9043-57A>G |
single nucleotide variant |
not provided [RCV001725613] |
Chr5:90712230 [GRCh38] Chr5:90008047 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.10549+119dup |
duplication |
not provided [RCV001648907] |
Chr5:90729870..90729871 [GRCh38] Chr5:90025687..90025688 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.8824+10G>A |
single nucleotide variant |
Usher syndrome type 2C [RCV001155531]|not provided [RCV000898520] |
Chr5:90708919 [GRCh38] Chr5:90004736 [GRCh37] Chr5:5q14.3 |
benign|likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.5265G>A (p.Ala1755=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155221]|not provided [RCV000949916] |
Chr5:90675397 [GRCh38] Chr5:89971214 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.17409A>G (p.Gln5803=) |
single nucleotide variant |
not provided [RCV000928027] |
Chr5:90853488 [GRCh38] Chr5:90149305 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.208-6del |
deletion |
not provided [RCV000903098] |
Chr5:90617796 [GRCh38] Chr5:89913613 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17991C>T (p.Tyr5997=) |
single nucleotide variant |
not provided [RCV000922911] |
Chr5:90985361 [GRCh38] Chr5:90281178 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.777T>C (p.Asn259=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154892]|not provided [RCV000905689] |
Chr5:90627315 [GRCh38] Chr5:89923132 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.18228C>T (p.Phe6076=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157757]|not provided [RCV000901010] |
Chr5:91072522 [GRCh38] Chr5:90368339 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.17493C>T (p.Leu5831=) |
single nucleotide variant |
not provided [RCV000936715] |
Chr5:90854100 [GRCh38] Chr5:90149917 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13287T>C (p.Tyr4429=) |
single nucleotide variant |
not provided [RCV000927601]|not specified [RCV001449785] |
Chr5:90783179 [GRCh38] Chr5:90078996 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.14289A>G (p.Val4763=) |
single nucleotide variant |
not provided [RCV000898940] |
Chr5:90791118 [GRCh38] Chr5:90086935 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7122T>G (p.Thr2374=) |
single nucleotide variant |
not provided [RCV000943498] |
Chr5:90692775 [GRCh38] Chr5:89988592 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4170C>T (p.Asn1390=) |
single nucleotide variant |
not provided [RCV000882370] |
Chr5:90653744 [GRCh38] Chr5:89949561 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14784T>C (p.Pro4928=) |
single nucleotide variant |
not provided [RCV000925202] |
Chr5:90805406 [GRCh38] Chr5:90101223 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14856C>T (p.His4952=) |
single nucleotide variant |
not provided [RCV000927748] |
Chr5:90807621 [GRCh38] Chr5:90103438 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15829C>T (p.Arg5277Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002540193]|Usher syndrome type 2C [RCV001330108]|not provided [RCV000899840] |
Chr5:90811089 [GRCh38] Chr5:90106906 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.18597C>G (p.Thr6199=) |
single nucleotide variant |
not provided [RCV000971704] |
Chr5:91150194 [GRCh38] Chr5:90446011 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5784C>G (p.Ser1928Arg) |
single nucleotide variant |
Retinal dystrophy [RCV001073946]|not provided [RCV001058124] |
Chr5:90683705 [GRCh38] Chr5:89979522 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.4103A>G (p.Asn1368Ser) |
single nucleotide variant |
not provided [RCV001037556] |
Chr5:90653677 [GRCh38] Chr5:89949494 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18629C>T (p.Pro6210Leu) |
single nucleotide variant |
Usher syndrome type 2C [RCV002505573]|not provided [RCV001044383] |
Chr5:91153225 [GRCh38] Chr5:90449042 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14008G>A (p.Val4670Ile) |
single nucleotide variant |
not provided [RCV001067668] |
Chr5:90789816 [GRCh38] Chr5:90085633 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6274+20TTA[4] |
microsatellite |
not provided [RCV001813103] |
Chr5:90684215..90684217 [GRCh38] Chr5:89980032..89980034 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6119A>G (p.Tyr2040Cys) |
single nucleotide variant |
not provided [RCV001053303] |
Chr5:90684040 [GRCh38] Chr5:89979857 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.18840A>G (p.Gln6280=) |
single nucleotide variant |
not provided [RCV001063740] |
Chr5:91163819 [GRCh38] Chr5:90459636 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13568G>A (p.Ser4523Asn) |
single nucleotide variant |
not provided [RCV001044910] |
Chr5:90783972 [GRCh38] Chr5:90079789 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15737G>A (p.Arg5246Gln) |
single nucleotide variant |
not provided [RCV001063918] |
Chr5:90810997 [GRCh38] Chr5:90106814 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.10228G>A (p.Val3410Met) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152996]|not provided [RCV001068192]|not specified [RCV001195185] |
Chr5:90728735 [GRCh38] Chr5:90024552 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.16279_16280delinsAA (p.Val5427Lys) |
indel |
not provided [RCV001040575] |
Chr5:90823507..90823508 [GRCh38] Chr5:90119324..90119325 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15737G>T (p.Arg5246Leu) |
single nucleotide variant |
not provided [RCV001040620] |
Chr5:90810997 [GRCh38] Chr5:90106814 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.12688G>A (p.Glu4230Lys) |
single nucleotide variant |
not provided [RCV001064502] |
Chr5:90778448 [GRCh38] Chr5:90074265 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.1946A>G (p.Asn649Ser) |
single nucleotide variant |
not provided [RCV001064504] |
Chr5:90635220 [GRCh38] Chr5:89931037 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.16340T>G (p.Phe5447Cys) |
single nucleotide variant |
not provided [RCV001064525] |
Chr5:90823568 [GRCh38] Chr5:90119385 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NC_000005.10:g.(?_90558896)_(90745805_?)dup |
duplication |
not provided [RCV001033428] |
Chr5:89854713..90041622 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7742T>C (p.Val2581Ala) |
single nucleotide variant |
not provided [RCV001062017] |
Chr5:90694498 [GRCh38] Chr5:89990315 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13504G>T (p.Val4502Leu) |
single nucleotide variant |
not provided [RCV001042274] |
Chr5:90783908 [GRCh38] Chr5:90079725 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7922G>A (p.Gly2641Glu) |
single nucleotide variant |
not provided [RCV001042458] |
Chr5:90694678 [GRCh38] Chr5:89990495 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10150G>A (p.Glu3384Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002553158]|not provided [RCV001047106] |
Chr5:90725645 [GRCh38] Chr5:90021462 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NC_000005.10:g.(?_90965415)_(91102340_?)del |
deletion |
not provided [RCV001031650] |
Chr5:90261232..90398157 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.6849C>T (p.Gly2283=) |
single nucleotide variant |
Retinal dystrophy [RCV001073810]|Usher syndrome type 2C [RCV001151570]|not provided [RCV002554680] |
Chr5:90690939 [GRCh38] Chr5:89986756 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.683A>G (p.Asn228Ser) |
single nucleotide variant |
not provided [RCV001047272] |
Chr5:90627221 [GRCh38] Chr5:89923038 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13186G>A (p.Ala4396Thr) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151954]|not provided [RCV001047419] |
Chr5:90781533 [GRCh38] Chr5:90077350 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NC_000005.10:g.(?_90848637)_(90863857_?)dup |
duplication |
not provided [RCV001032995] |
Chr5:90144454..90159674 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12697dup (p.Ser4233fs) |
duplication |
Retinal dystrophy [RCV001073869]|Usher syndrome [RCV002509612]|not provided [RCV001216853] |
Chr5:90778451..90778452 [GRCh38] Chr5:90074268..90074269 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.12724G>C (p.Val4242Leu) |
single nucleotide variant |
not provided [RCV001048034] |
Chr5:90778484 [GRCh38] Chr5:90074301 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4468C>G (p.Leu1490Val) |
single nucleotide variant |
not provided [RCV001069809] |
Chr5:90657994 [GRCh38] Chr5:89953811 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NC_000005.10:g.(?_90965415)_(91383092_?)del |
deletion |
not provided [RCV001031359] |
Chr5:90261232..90678909 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.5042G>C (p.Ser1681Thr) |
single nucleotide variant |
Retinal dystrophy [RCV001074478] |
Chr5:90674166 [GRCh38] Chr5:89969983 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18479G>T (p.Cys6160Phe) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152267]|not provided [RCV001049379] |
Chr5:91150076 [GRCh38] Chr5:90445893 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6428C>A (p.Thr2143Lys) |
single nucleotide variant |
not provided [RCV001043479] |
Chr5:90685933 [GRCh38] Chr5:89981750 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6975T>C (p.Asp2325=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151573]|not provided [RCV000896504]|not specified [RCV000825095] |
Chr5:90692628 [GRCh38] Chr5:89988445 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.17200G>T (p.Glu5734Ter) |
single nucleotide variant |
Usher syndrome type 2C [RCV000770807] |
Chr5:90848817 [GRCh38] Chr5:90144634 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.7885G>T (p.Gly2629Ter) |
single nucleotide variant |
Usher syndrome type 2C [RCV000770808] |
Chr5:90694641 [GRCh38] Chr5:89990458 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter) |
single nucleotide variant |
Usher syndrome type 2C [RCV000770810] |
Chr5:90815669 [GRCh38] Chr5:90111486 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.12222G>A (p.Trp4074Ter) |
single nucleotide variant |
Usher syndrome type 2C [RCV000779479] |
Chr5:90763406 [GRCh38] Chr5:90059223 [GRCh37] Chr5:5q14.3 |
pathogenic|uncertain significance |
NC_000005.10:g.(?_90614729)_(90784051_?)del |
deletion |
Rare genetic deafness [RCV000825555] |
Chr5:89910546..90079868 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.4264A>G (p.Ser1422Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002536082]|not provided [RCV000826329] |
Chr5:90653838 [GRCh38] Chr5:89949655 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.16197-1G>T |
single nucleotide variant |
Usher syndrome type 2C [RCV000770809] |
Chr5:90823424 [GRCh38] Chr5:90119241 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.2320G>T (p.Gly774Ter) |
single nucleotide variant |
Usher syndrome type 2C [RCV000770805] |
Chr5:90642715 [GRCh38] Chr5:89938532 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.3030T>C (p.Arg1010=) |
single nucleotide variant |
not provided [RCV000898246] |
Chr5:90647505 [GRCh38] Chr5:89943322 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1071G>A (p.Ser357=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154896]|not provided [RCV000881007] |
Chr5:90627609 [GRCh38] Chr5:89923426 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.5178C>T (p.Ser1726=) |
single nucleotide variant |
not provided [RCV000979270] |
Chr5:90675310 [GRCh38] Chr5:89971127 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3246G>A (p.Pro1082=) |
single nucleotide variant |
not provided [RCV000922669] |
Chr5:90647721 [GRCh38] Chr5:89943538 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2043A>G (p.Gly681=) |
single nucleotide variant |
not provided [RCV000920045] |
Chr5:90637751 [GRCh38] Chr5:89933568 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10427-4G>T |
single nucleotide variant |
not provided [RCV000886824] |
Chr5:90729638 [GRCh38] Chr5:90025455 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17974-1G>C |
single nucleotide variant |
Usher syndrome type 2 [RCV000857229]|not provided [RCV002538892] |
Chr5:90985343 [GRCh38] Chr5:90281160 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16011G>C (p.Gly5337=) |
single nucleotide variant |
not provided [RCV000979308] |
Chr5:90811271 [GRCh38] Chr5:90107088 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13293T>C (p.Tyr4431=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153217]|not provided [RCV000931366] |
Chr5:90783185 [GRCh38] Chr5:90079002 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15171T>G (p.Pro5057=) |
single nucleotide variant |
not provided [RCV000943136] |
Chr5:90810431 [GRCh38] Chr5:90106248 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15113T>C (p.Ile5038Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002539439]|not provided [RCV000895852] |
Chr5:90810373 [GRCh38] Chr5:90106190 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.9279C>T (p.Tyr3093=) |
single nucleotide variant |
not provided [RCV000918314] |
Chr5:90716561 [GRCh38] Chr5:90012378 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11226C>T (p.Ile3742=) |
single nucleotide variant |
not provided [RCV000944037] |
Chr5:90753678 [GRCh38] Chr5:90049495 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13152C>T (p.Ser4384=) |
single nucleotide variant |
not provided [RCV000924472] |
Chr5:90781499 [GRCh38] Chr5:90077316 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1317C>T (p.Ser439=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156563]|not provided [RCV000977413] |
Chr5:90628640 [GRCh38] Chr5:89924457 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.14415G>A (p.Ser4805=) |
single nucleotide variant |
not provided [RCV000924586] |
Chr5:90791244 [GRCh38] Chr5:90087061 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13800A>G (p.Glu4600=) |
single nucleotide variant |
not provided [RCV000927024] |
Chr5:90788217 [GRCh38] Chr5:90084034 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17442C>A (p.Thr5814=) |
single nucleotide variant |
not provided [RCV000920004] |
Chr5:90853521 [GRCh38] Chr5:90149338 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7557C>T (p.Phe2519=) |
single nucleotide variant |
not provided [RCV000922276] |
Chr5:90694313 [GRCh38] Chr5:89990130 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17657C>A (p.Ala5886Asp) |
single nucleotide variant |
not provided [RCV000900411] |
Chr5:90855803 [GRCh38] Chr5:90151620 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16362A>G (p.Pro5454=) |
single nucleotide variant |
not provided [RCV000930264] |
Chr5:90823590 [GRCh38] Chr5:90119407 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5283C>G (p.Ser1761=) |
single nucleotide variant |
not provided [RCV000942340] |
Chr5:90675415 [GRCh38] Chr5:89971232 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2979A>G (p.Ala993=) |
single nucleotide variant |
not provided [RCV000980539] |
Chr5:90646048 [GRCh38] Chr5:89941865 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9597A>G (p.Leu3199=) |
single nucleotide variant |
not provided [RCV000896885] |
Chr5:90720197 [GRCh38] Chr5:90016014 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16114G>T (p.Glu5372Ter) |
single nucleotide variant |
Usher syndrome type 2C [RCV000770806] |
Chr5:90815654 [GRCh38] Chr5:90111471 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.8485G>C (p.Ala2829Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003266457] |
Chr5:90705498 [GRCh38] Chr5:90001315 [GRCh37] Chr5:5q14.3 |
uncertain significance |
GRCh37/hg19 5q14.3(chr5:90209062-90419585)x1 |
copy number loss |
not provided [RCV001005700] |
Chr5:90209062..90419585 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17258G>A (p.Trp5753Ter) |
single nucleotide variant |
not provided [RCV003313510] |
Chr5:90853337 [GRCh38] Chr5:90149154 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.8567-289G>C |
single nucleotide variant |
not provided [RCV000835826] |
Chr5:90705942 [GRCh38] Chr5:90001759 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.4391T>G (p.Leu1464Arg) |
single nucleotide variant |
Usher syndrome type 2C [RCV001029959] |
Chr5:90657917 [GRCh38] Chr5:89953734 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
GRCh37/hg19 5q14.3(chr5:90112102-90219415)x1 |
copy number loss |
not provided [RCV000845770] |
Chr5:90112102..90219415 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.5892T>C (p.Asn1964=) |
single nucleotide variant |
not provided [RCV001430975]|not specified [RCV000825094] |
Chr5:90683813 [GRCh38] Chr5:89979630 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.16999A>G (p.Met5667Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152170]|not provided [RCV001364432]|not specified [RCV000825096] |
Chr5:90840965 [GRCh38] Chr5:90136782 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3885T>G (p.Gly1295=) |
single nucleotide variant |
not provided [RCV001501421]|not specified [RCV000825098] |
Chr5:90653459 [GRCh38] Chr5:89949276 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14405G>A (p.Arg4802Gln) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157526]|not provided [RCV001055455]|not specified [RCV000825106] |
Chr5:90791234 [GRCh38] Chr5:90087051 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.13579A>G (p.Ile4527Val) |
single nucleotide variant |
not provided [RCV001307219]|not specified [RCV000825107] |
Chr5:90783983 [GRCh38] Chr5:90079800 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6029A>G (p.Lys2010Arg) |
single nucleotide variant |
not provided [RCV001856267]|not specified [RCV000825276] |
Chr5:90683950 [GRCh38] Chr5:89979767 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12978A>G (p.Ala4326=) |
single nucleotide variant |
not provided [RCV000839926] |
Chr5:90778993 [GRCh38] Chr5:90074810 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.3096G>C (p.Val1032=) |
single nucleotide variant |
not provided [RCV000937844] |
Chr5:90647571 [GRCh38] Chr5:89943388 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9624-80del |
deletion |
not provided [RCV000836243] |
Chr5:90720855 [GRCh38] Chr5:90016672 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9624-78del |
deletion |
not provided [RCV000836244] |
Chr5:90720857 [GRCh38] Chr5:90016674 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1180del (p.Ser394fs) |
deletion |
Rare genetic deafness [RCV000825554]|not provided [RCV001008515] |
Chr5:90627716 [GRCh38] Chr5:89923533 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.3978T>A (p.Asp1326Glu) |
single nucleotide variant |
not provided [RCV002067425]|not specified [RCV000825860] |
Chr5:90653552 [GRCh38] Chr5:89949369 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.10161+218C>T |
single nucleotide variant |
not provided [RCV000838413] |
Chr5:90725874 [GRCh38] Chr5:90021691 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.10162-209T>C |
single nucleotide variant |
not provided [RCV000838414] |
Chr5:90728460 [GRCh38] Chr5:90024277 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12121-121T>A |
single nucleotide variant |
not provided [RCV000838415] |
Chr5:90763184 [GRCh38] Chr5:90059001 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.14972+231T>G |
single nucleotide variant |
not provided [RCV000838418] |
Chr5:90807968 [GRCh38] Chr5:90103785 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.16196+147T>C |
single nucleotide variant |
not provided [RCV000838421] |
Chr5:90815883 [GRCh38] Chr5:90111700 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.17594+210A>G |
single nucleotide variant |
not provided [RCV000838422] |
Chr5:90854411 [GRCh38] Chr5:90150228 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.2734+236G>C |
single nucleotide variant |
not provided [RCV000838423] |
Chr5:90644219 [GRCh38] Chr5:89940036 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.18310+175C>T |
single nucleotide variant |
not provided [RCV000838424] |
Chr5:91072779 [GRCh38] Chr5:90368596 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.3289+118G>A |
single nucleotide variant |
not provided [RCV000838425] |
Chr5:90647882 [GRCh38] Chr5:89943699 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.3290-174C>T |
single nucleotide variant |
not provided [RCV000838426] |
Chr5:90651430 [GRCh38] Chr5:89947247 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.4752+89T>C |
single nucleotide variant |
not provided [RCV000838427] |
Chr5:90658367 [GRCh38] Chr5:89954184 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.358-216A>G |
single nucleotide variant |
not provided [RCV000838428] |
Chr5:90618870 [GRCh38] Chr5:89914687 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12125T>C (p.Met4042Thr) |
single nucleotide variant |
not provided [RCV000998407] |
Chr5:90763309 [GRCh38] Chr5:90059126 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10161+9C>A |
single nucleotide variant |
not specified [RCV000825100] |
Chr5:90725665 [GRCh38] Chr5:90021482 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10293C>T (p.Asn3431=) |
single nucleotide variant |
not provided [RCV001488599]|not specified [RCV000825101] |
Chr5:90728800 [GRCh38] Chr5:90024617 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14433G>A (p.Pro4811=) |
single nucleotide variant |
not provided [RCV002061141]|not specified [RCV000825103] |
Chr5:90791262 [GRCh38] Chr5:90087079 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11581-2dup |
duplication |
not provided [RCV001298388]|not specified [RCV000825274] |
Chr5:90756451..90756452 [GRCh38] Chr5:90052268..90052269 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11122-234G>A |
single nucleotide variant |
not provided [RCV000838483] |
Chr5:90753340 [GRCh38] Chr5:90049157 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8127A>G (p.Thr2709=) |
single nucleotide variant |
not provided [RCV002067415]|not specified [RCV000825699] |
Chr5:90697118 [GRCh38] Chr5:89992935 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2292A>G (p.Leu764=) |
single nucleotide variant |
not specified [RCV000825701] |
Chr5:90642687 [GRCh38] Chr5:89938504 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1839+54C>T |
single nucleotide variant |
not provided [RCV000829498] |
Chr5:90629593 [GRCh38] Chr5:89925410 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.2898+85A>G |
single nucleotide variant |
not provided [RCV000829501] |
Chr5:90644954 [GRCh38] Chr5:89940771 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.4771A>G (p.Thr1591Ala) |
single nucleotide variant |
not provided [RCV001371307]|not specified [RCV000825861] |
Chr5:90672564 [GRCh38] Chr5:89968381 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.9052T>C (p.Phe3018Leu) |
single nucleotide variant |
Usher syndrome type 2C [RCV002479158]|not provided [RCV000991491] |
Chr5:90712296 [GRCh38] Chr5:90008113 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5444-281A>G |
single nucleotide variant |
not provided [RCV000826372] |
Chr5:90679268 [GRCh38] Chr5:89975085 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12850-36A>T |
single nucleotide variant |
not provided [RCV000835219] |
Chr5:90778829 [GRCh38] Chr5:90074646 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.672+56T>C |
single nucleotide variant |
not provided [RCV000835220] |
Chr5:90625299 [GRCh38] Chr5:89921116 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.13653+98C>T |
single nucleotide variant |
not provided [RCV000835221] |
Chr5:90784155 [GRCh38] Chr5:90079972 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.7155G>T (p.Leu2385=) |
single nucleotide variant |
not provided [RCV000840707] |
Chr5:90693911 [GRCh38] Chr5:89989728 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9042+57C>T |
single nucleotide variant |
not provided [RCV000833695] |
Chr5:90711379 [GRCh38] Chr5:90007196 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.11122-153A>G |
single nucleotide variant |
not provided [RCV000833701] |
Chr5:90753421 [GRCh38] Chr5:90049238 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.11940+78A>G |
single nucleotide variant |
not provided [RCV000833702] |
Chr5:90757239 [GRCh38] Chr5:90053056 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.-47G>C |
single nucleotide variant |
Usher syndrome type 2C [RCV001152775]|not provided [RCV000839020] |
Chr5:90558849 [GRCh38] Chr5:89854666 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.8400C>T (p.Ala2800=) |
single nucleotide variant |
not provided [RCV000916040] |
Chr5:90705413 [GRCh38] Chr5:90001230 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10162-272G>A |
single nucleotide variant |
not provided [RCV000831685] |
Chr5:90728397 [GRCh38] Chr5:90024214 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10427-288T>C |
single nucleotide variant |
not provided [RCV000831686] |
Chr5:90729354 [GRCh38] Chr5:90025171 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10549+306G>A |
single nucleotide variant |
not provided [RCV000831687] |
Chr5:90730070 [GRCh38] Chr5:90025887 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13232-268_13232-267dup |
duplication |
not provided [RCV000831688] |
Chr5:90782855..90782856 [GRCh38] Chr5:90078672..90078673 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.558+207T>G |
single nucleotide variant |
not provided [RCV000833690] |
Chr5:90622908 [GRCh38] Chr5:89918725 [GRCh37] Chr5:5q14.3 |
benign |
NC_000005.10:g.90683563T>C |
single nucleotide variant |
not provided [RCV000833691] |
Chr5:89979380 [GRCh37] Chr5:5q14.3 |
benign |
NC_000005.10:g.90694728C>A |
single nucleotide variant |
not provided [RCV000833692] |
Chr5:89990545 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.8155+82T>C |
single nucleotide variant |
not provided [RCV000833693] |
Chr5:90697228 [GRCh38] Chr5:89993045 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.8567-60G>T |
single nucleotide variant |
not provided [RCV000833694] |
Chr5:90706171 [GRCh38] Chr5:90001988 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.9447+68A>T |
single nucleotide variant |
not provided [RCV000833696] |
Chr5:90716797 [GRCh38] Chr5:90012614 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.9448-73C>T |
single nucleotide variant |
not provided [RCV000833697] |
Chr5:90719975 [GRCh38] Chr5:90015792 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.9623+89A>G |
single nucleotide variant |
not provided [RCV000833698] |
Chr5:90720312 [GRCh38] Chr5:90016129 [GRCh37] Chr5:5q14.3 |
benign |
NC_000005.10:g.90725051A>C |
single nucleotide variant |
not provided [RCV000833699] |
Chr5:90020868 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.10769+79G>A |
single nucleotide variant |
not provided [RCV000833700] |
Chr5:90745344 [GRCh38] Chr5:90041161 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.1238+74A>T |
single nucleotide variant |
not provided [RCV000838391] |
Chr5:90627850 [GRCh38] Chr5:89923667 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.2553+209G>A |
single nucleotide variant |
not provided [RCV000838392] |
Chr5:90643250 [GRCh38] Chr5:89939067 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.3289+189T>G |
single nucleotide variant |
not provided [RCV000838393] |
Chr5:90647953 [GRCh38] Chr5:89943770 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.3289+191del |
deletion |
not provided [RCV000838396] |
Chr5:90647955 [GRCh38] Chr5:89943772 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.3289+193A>T |
single nucleotide variant |
not provided [RCV000838397] |
Chr5:90647957 [GRCh38] Chr5:89943774 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.3289+194C>A |
single nucleotide variant |
not provided [RCV000838401] |
Chr5:90647958 [GRCh38] Chr5:89943775 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.4929+87A>T |
single nucleotide variant |
not provided [RCV000838402] |
Chr5:90672809 [GRCh38] Chr5:89968626 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.4929+234G>A |
single nucleotide variant |
not provided [RCV000838404] |
Chr5:90672956 [GRCh38] Chr5:89968773 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.5524+183T>A |
single nucleotide variant |
not provided [RCV000838405] |
Chr5:90679812 [GRCh38] Chr5:89975629 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.8287-238A>G |
single nucleotide variant |
not provided [RCV000838408] |
Chr5:90704151 [GRCh38] Chr5:89999968 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.8825-246T>G |
single nucleotide variant |
not provided [RCV000838409] |
Chr5:90710735 [GRCh38] Chr5:90006552 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.9042+149T>A |
single nucleotide variant |
not provided [RCV000838410] |
Chr5:90711471 [GRCh38] Chr5:90007288 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.9447+157G>A |
single nucleotide variant |
not provided [RCV000838411] |
Chr5:90716886 [GRCh38] Chr5:90012703 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.10054-74A>G |
single nucleotide variant |
not provided [RCV000838412] |
Chr5:90725475 [GRCh38] Chr5:90021292 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12667-147G>T |
single nucleotide variant |
not provided [RCV000838444] |
Chr5:90778280 [GRCh38] Chr5:90074097 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.13082+146C>G |
single nucleotide variant |
not provided [RCV000838447] |
Chr5:90779243 [GRCh38] Chr5:90075060 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.8566+90C>T |
single nucleotide variant |
not provided [RCV000838488] |
Chr5:90705669 [GRCh38] Chr5:90001486 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.18831A>G (p.Glu6277=) |
single nucleotide variant |
not provided [RCV000998408] |
Chr5:91163810 [GRCh38] Chr5:90459627 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.16196+40T>C |
single nucleotide variant |
not provided [RCV000835158] |
Chr5:90815776 [GRCh38] Chr5:90111593 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10727A>G (p.Tyr3576Cys) |
single nucleotide variant |
Usher syndrome type 2C [RCV000786932]|not provided [RCV001873207] |
Chr5:90745223 [GRCh38] Chr5:90041040 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5574C>A (p.Asp1858Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002536044]|Usher syndrome type 2C [RCV001156880]|not provided [RCV001344402]|not specified [RCV000825275] |
Chr5:90681364 [GRCh38] Chr5:89977181 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3179C>T (p.Thr1060Met) |
single nucleotide variant |
not provided [RCV001858403]|not specified [RCV000825700] |
Chr5:90647654 [GRCh38] Chr5:89943471 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
GRCh37/hg19 5q14.3(chr5:89940237-89999954)x1 |
copy number loss |
not provided [RCV000848491] |
Chr5:89940237..89999954 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16175T>C (p.Ile5392Thr) |
single nucleotide variant |
not provided [RCV000826332] |
Chr5:90815715 [GRCh38] Chr5:90111532 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.18435A>T (p.Gly6145=) |
single nucleotide variant |
not provided [RCV000843215] |
Chr5:91150032 [GRCh38] Chr5:90445849 [GRCh37] Chr5:5q14.3 |
likely benign |
GRCh37/hg19 5q14.3(chr5:90138848-90219415)x3 |
copy number gain |
not provided [RCV000848928] |
Chr5:90138848..90219415 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11221C>T (p.Arg3741Cys) |
single nucleotide variant |
not provided [RCV001055308] |
Chr5:90753673 [GRCh38] Chr5:90049490 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.17885G>A (p.Ser5962Asn) |
single nucleotide variant |
not provided [RCV001055602] |
Chr5:90965443 [GRCh38] Chr5:90261260 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16732G>A (p.Asp5578Asn) |
single nucleotide variant |
not provided [RCV001058991] |
Chr5:90840698 [GRCh38] Chr5:90136515 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12989G>A (p.Arg4330Lys) |
single nucleotide variant |
not provided [RCV000943117]|not specified [RCV000825102] |
Chr5:90779004 [GRCh38] Chr5:90074821 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.23-13C>G |
single nucleotide variant |
not provided [RCV002061142]|not specified [RCV000825105] |
Chr5:90614822 [GRCh38] Chr5:89910639 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14315C>G (p.Ser4772Ter) |
single nucleotide variant |
Usher syndrome [RCV000786013] |
Chr5:90791144 [GRCh38] Chr5:90086961 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1623T>C (p.Phe541=) |
single nucleotide variant |
not specified [RCV000825698] |
Chr5:90629323 [GRCh38] Chr5:89925140 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5104C>T (p.Pro1702Ser) |
single nucleotide variant |
not provided [RCV001063746]|not specified [RCV000825858] |
Chr5:90674228 [GRCh38] Chr5:89970045 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12613T>G (p.Ser4205Ala) |
single nucleotide variant |
not provided [RCV001233771]|not specified [RCV000825859] |
Chr5:90777990 [GRCh38] Chr5:90073807 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3133del (p.Ala1045fs) |
deletion |
Usher syndrome type 2C [RCV000987534] |
Chr5:90647607 [GRCh38] Chr5:89943424 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.12528-332A>G |
single nucleotide variant |
not provided [RCV000826373] |
Chr5:90777573 [GRCh38] Chr5:90073390 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.11905C>T (p.Pro3969Ser) |
single nucleotide variant |
not provided [RCV000991482] |
Chr5:90757126 [GRCh38] Chr5:90052943 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14632C>T (p.Pro4878Ser) |
single nucleotide variant |
not provided [RCV000991484] |
Chr5:90802853 [GRCh38] Chr5:90098670 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.15830G>A (p.Arg5277His) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155932]|not provided [RCV000991485] |
Chr5:90811090 [GRCh38] Chr5:90106907 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.558+186T>C |
single nucleotide variant |
not provided [RCV000829479] |
Chr5:90622887 [GRCh38] Chr5:89918704 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.558+295G>C |
single nucleotide variant |
not provided [RCV000829496] |
Chr5:90622996 [GRCh38] Chr5:89918813 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.1510-51C>A |
single nucleotide variant |
not provided [RCV000829497] |
Chr5:90629159 [GRCh38] Chr5:89924976 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.2735-34C>G |
single nucleotide variant |
Usher syndrome type 2C [RCV001702724]|not provided [RCV000829500] |
Chr5:90644672 [GRCh38] Chr5:89940489 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.2899-42T>C |
single nucleotide variant |
not provided [RCV000829502] |
Chr5:90645926 [GRCh38] Chr5:89941743 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.3290-216TC[3] |
microsatellite |
not provided [RCV000838430] |
Chr5:90651388..90651391 [GRCh38] Chr5:89947205..89947208 [GRCh37] Chr5:5q14.3 |
benign |
GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3 |
copy number gain |
not provided [RCV000849289] |
Chr5:89949118..129317455 [GRCh37] Chr5:5q14.3-23.3 |
pathogenic |
NM_032119.4(ADGRV1):c.13227C>T (p.Phe4409=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153216]|not provided [RCV000828260] |
Chr5:90781574 [GRCh38] Chr5:90077391 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.243A>T (p.Thr81=) |
single nucleotide variant |
not provided [RCV001441067]|not specified [RCV000825093] |
Chr5:90617839 [GRCh38] Chr5:89913656 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.3(ADGRV1):c.-388A>G |
single nucleotide variant |
not provided [RCV000830716] |
Chr5:90558508 [GRCh38] Chr5:89854325 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.18433-4G>T |
single nucleotide variant |
not provided [RCV000837046] |
Chr5:91150026 [GRCh38] Chr5:90445843 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12849+8A>G |
single nucleotide variant |
not provided [RCV000943135] |
Chr5:90778617 [GRCh38] Chr5:90074434 [GRCh37] Chr5:5q14.3 |
likely benign |
Single allele |
deletion |
Neurodevelopmental disorder [RCV000787436] |
Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32 |
uncertain significance |
NM_032119.4(ADGRV1):c.8620C>T (p.Gln2874Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000825556]|not provided [RCV001237241] |
Chr5:90706284 [GRCh38] Chr5:90002101 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16931T>C (p.Leu5644Pro) |
single nucleotide variant |
not provided [RCV001343950]|not specified [RCV000825862] |
Chr5:90840897 [GRCh38] Chr5:90136714 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18777T>C (p.Asp6259=) |
single nucleotide variant |
not provided [RCV000981195] |
Chr5:91153373 [GRCh38] Chr5:90449190 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.564G>T (p.Glu188Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002538247]|not provided [RCV000826326] |
Chr5:90625135 [GRCh38] Chr5:89920952 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.3(ADGRV1):c.-265G>C |
single nucleotide variant |
not provided [RCV000826371] |
Chr5:90558631 [GRCh38] Chr5:89854448 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.16523_16525dup (p.Val5508dup) |
duplication |
not specified [RCV000785013] |
Chr5:90829096..90829097 [GRCh38] Chr5:90124913..90124914 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6G>T (p.Ser2=) |
single nucleotide variant |
not provided [RCV000916296] |
Chr5:90558901 [GRCh38] Chr5:89854718 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2016+53del |
deletion |
not provided [RCV000829499] |
Chr5:90635343 [GRCh38] Chr5:89931160 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.6707-329G>T |
single nucleotide variant |
not provided [RCV000831684] |
Chr5:90690468 [GRCh38] Chr5:89986285 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11595A>G (p.Glu3865=) |
single nucleotide variant |
not provided [RCV000826983] |
Chr5:90756468 [GRCh38] Chr5:90052285 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4128C>T (p.Asp1376=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156787]|not provided [RCV000839021] |
Chr5:90653702 [GRCh38] Chr5:89949519 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.4227C>T (p.Tyr1409=) |
single nucleotide variant |
not provided [RCV000841875] |
Chr5:90653801 [GRCh38] Chr5:89949618 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.17195del (p.Pro5732fs) |
deletion |
Retinitis pigmentosa [RCV000787528] |
Chr5:90848811 [GRCh38] Chr5:90144628 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.2898+59del |
deletion |
not provided [RCV000839036] |
Chr5:90644923 [GRCh38] Chr5:89940740 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.454-80G>T |
single nucleotide variant |
not provided [RCV000835825] |
Chr5:90622517 [GRCh38] Chr5:89918334 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.11941-96C>A |
single nucleotide variant |
not provided [RCV000835830] |
Chr5:90759313 [GRCh38] Chr5:90055130 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.22+56C>T |
single nucleotide variant |
not provided [RCV000836111] |
Chr5:90558973 [GRCh38] Chr5:89854790 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.1839+32G>A |
single nucleotide variant |
not provided [RCV000836112] |
Chr5:90629571 [GRCh38] Chr5:89925388 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.7133+48G>A |
single nucleotide variant |
not provided [RCV000836113] |
Chr5:90692834 [GRCh38] Chr5:89988651 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.11122-24C>T |
single nucleotide variant |
not provided [RCV000836114] |
Chr5:90753550 [GRCh38] Chr5:90049367 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.11757+30A>G |
single nucleotide variant |
not provided [RCV000836115] |
Chr5:90756660 [GRCh38] Chr5:90052477 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.5776C>A (p.Gln1926Lys) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151455] |
Chr5:90683697 [GRCh38] Chr5:89979514 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2636C>T (p.Thr879Met) |
single nucleotide variant |
Hearing impairment [RCV001375207]|Usher syndrome type 2C [RCV001155014]|Usher syndrome type 2C [RCV002479352]|not provided [RCV001057951] |
Chr5:90643885 [GRCh38] Chr5:89939702 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.121T>A (p.Phe41Ile) |
single nucleotide variant |
not provided [RCV001058515] |
Chr5:90614933 [GRCh38] Chr5:89910750 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.199A>G (p.Ile67Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152779] |
Chr5:90615011 [GRCh38] Chr5:89910828 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8034T>G (p.Thr2678=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151656]|not provided [RCV001470395] |
Chr5:90697025 [GRCh38] Chr5:89992842 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.17402G>A (p.Ser5801Asn) |
single nucleotide variant |
Usher syndrome type 2C [RCV000984911]|not provided [RCV001858608] |
Chr5:90853481 [GRCh38] Chr5:90149298 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5560A>G (p.Ile1854Val) |
single nucleotide variant |
not provided [RCV000998404] |
Chr5:90681350 [GRCh38] Chr5:89977167 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.245A>G (p.Tyr82Cys) |
single nucleotide variant |
not provided [RCV001054646] |
Chr5:90617841 [GRCh38] Chr5:89913658 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5207A>G (p.Asp1736Gly) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155219]|not provided [RCV001056227] |
Chr5:90675339 [GRCh38] Chr5:89971156 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14901T>C (p.Pro4967=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152057] |
Chr5:90807666 [GRCh38] Chr5:90103483 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18515A>G (p.Asn6172Ser) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152268]|not provided [RCV001346529] |
Chr5:91150112 [GRCh38] Chr5:90445929 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1608C>A (p.Tyr536Ter) |
single nucleotide variant |
not provided [RCV001091920] |
Chr5:90629308 [GRCh38] Chr5:89925125 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.4378+11T>C |
single nucleotide variant |
Usher syndrome type 2C [RCV001151338]|not provided [RCV002557263] |
Chr5:90653963 [GRCh38] Chr5:89949780 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.9680G>A (p.Arg3227Gln) |
single nucleotide variant |
not provided [RCV001051917] |
Chr5:90720991 [GRCh38] Chr5:90016808 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14605C>T (p.Leu4869Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003160423]|not provided [RCV001053301] |
Chr5:90802826 [GRCh38] Chr5:90098643 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 5q14.3(chr5:89940237-89999954)x1 |
copy number loss |
not provided [RCV000848447] |
Chr5:89940237..89999954 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.14467dup (p.Val4823fs) |
duplication |
Usher syndrome type 2C [RCV000987541] |
Chr5:90791294..90791295 [GRCh38] Chr5:90087111..90087112 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.5967dup (p.Val1990fs) |
duplication |
not provided [RCV001009156] |
Chr5:90683885..90683886 [GRCh38] Chr5:89979702..89979703 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
GRCh37/hg19 5q14.3(chr5:89940237-89999954)x1 |
copy number loss |
not provided [RCV000850023] |
Chr5:89940237..89999954 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12786C>T (p.Ser4262=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151950]|not provided [RCV000991483] |
Chr5:90778546 [GRCh38] Chr5:90074363 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.2800C>G (p.Pro934Ala) |
single nucleotide variant |
ADGRV1-related condition [RCV003392720]|not provided [RCV000991486] |
Chr5:90644771 [GRCh38] Chr5:89940588 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.11701A>G (p.Ile3901Val) |
single nucleotide variant |
not provided [RCV001054823] |
Chr5:90756574 [GRCh38] Chr5:90052391 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12652_12654del (p.Ile4218del) |
deletion |
not provided [RCV001229008] |
Chr5:90778029..90778031 [GRCh38] Chr5:90073846..90073848 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4082T>G (p.Val1361Gly) |
single nucleotide variant |
not provided [RCV001229498] |
Chr5:90653656 [GRCh38] Chr5:89949473 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6521T>C (p.Val2174Ala) |
single nucleotide variant |
not provided [RCV001231319] |
Chr5:90689891 [GRCh38] Chr5:89985708 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.18141T>G (p.Ile6047Met) |
single nucleotide variant |
not specified [RCV001195358] |
Chr5:90985511 [GRCh38] Chr5:90281328 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17355A>G (p.Ile5785Met) |
single nucleotide variant |
not provided [RCV001248332] |
Chr5:90853434 [GRCh38] Chr5:90149251 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18209C>T (p.Thr6070Met) |
single nucleotide variant |
not provided [RCV001202902] |
Chr5:91072503 [GRCh38] Chr5:90368320 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.3611T>C (p.Phe1204Ser) |
single nucleotide variant |
not provided [RCV001248722] |
Chr5:90652540 [GRCh38] Chr5:89948357 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8308T>C (p.Phe2770Leu) |
single nucleotide variant |
Usher syndrome type 2C [RCV002484082]|not provided [RCV001202223] |
Chr5:90704410 [GRCh38] Chr5:90000227 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.18028T>C (p.Tyr6010His) |
single nucleotide variant |
not provided [RCV001060184] |
Chr5:90985398 [GRCh38] Chr5:90281215 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16912C>A (p.Pro5638Thr) |
single nucleotide variant |
not provided [RCV001060648] |
Chr5:90840878 [GRCh38] Chr5:90136695 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6754G>A (p.Val2252Met) |
single nucleotide variant |
not provided [RCV001213952] |
Chr5:90690844 [GRCh38] Chr5:89986661 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.18624+211G>A |
single nucleotide variant |
not provided [RCV001544881] |
Chr5:91150432 [GRCh38] Chr5:90446249 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6431G>A (p.Gly2144Glu) |
single nucleotide variant |
not provided [RCV001229653] |
Chr5:90685936 [GRCh38] Chr5:89981753 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11188G>T (p.Glu3730Ter) |
single nucleotide variant |
not provided [RCV001201682] |
Chr5:90753640 [GRCh38] Chr5:90049457 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.8259C>G (p.Asn2753Lys) |
single nucleotide variant |
not provided [RCV001208538] |
Chr5:90703768 [GRCh38] Chr5:89999585 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.2753G>A (p.Arg918Lys) |
single nucleotide variant |
not provided [RCV001241911] |
Chr5:90644724 [GRCh38] Chr5:89940541 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.7616T>C (p.Leu2539Pro) |
single nucleotide variant |
not provided [RCV001241912] |
Chr5:90694372 [GRCh38] Chr5:89990189 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14253G>C (p.Trp4751Cys) |
single nucleotide variant |
not provided [RCV001214026] |
Chr5:90791082 [GRCh38] Chr5:90086899 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14014A>G (p.Arg4672Gly) |
single nucleotide variant |
not provided [RCV001204723] |
Chr5:90789822 [GRCh38] Chr5:90085639 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.208-4A>G |
single nucleotide variant |
Usher syndrome type 2C [RCV002497796]|not provided [RCV001233296] |
Chr5:90617800 [GRCh38] Chr5:89913617 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.11581-2A>G |
single nucleotide variant |
not provided [RCV001237100] |
Chr5:90756452 [GRCh38] Chr5:90052269 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.18079C>T (p.Leu6027Phe) |
single nucleotide variant |
not provided [RCV001237140] |
Chr5:90985449 [GRCh38] Chr5:90281266 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4129G>A (p.Gly1377Ser) |
single nucleotide variant |
not provided [RCV001239263] |
Chr5:90653703 [GRCh38] Chr5:89949520 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2395A>G (p.Ile799Val) |
single nucleotide variant |
not provided [RCV001242060] |
Chr5:90642883 [GRCh38] Chr5:89938700 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1840-10T>C |
single nucleotide variant |
not provided [RCV001205888] |
Chr5:90635104 [GRCh38] Chr5:89930921 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.11827C>G (p.Arg3943Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002563980]|not provided [RCV001240779] |
Chr5:90757048 [GRCh38] Chr5:90052865 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.11939A>G (p.Gln3980Arg) |
single nucleotide variant |
not provided [RCV001206127] |
Chr5:90757160 [GRCh38] Chr5:90052977 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13616T>A (p.Val4539Glu) |
single nucleotide variant |
not provided [RCV001234517] |
Chr5:90784020 [GRCh38] Chr5:90079837 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.9858dup (p.Ser3287fs) |
duplication |
not provided [RCV001242865] |
Chr5:90724937..90724938 [GRCh38] Chr5:90020754..90020755 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.6202C>A (p.Pro2068Thr) |
single nucleotide variant |
not provided [RCV001242874] |
Chr5:90684123 [GRCh38] Chr5:89979940 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6268C>T (p.Arg2090Cys) |
single nucleotide variant |
not provided [RCV001203520] |
Chr5:90684189 [GRCh38] Chr5:89980006 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12697A>C (p.Ser4233Arg) |
single nucleotide variant |
not provided [RCV001233832] |
Chr5:90778457 [GRCh38] Chr5:90074274 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.14179G>A (p.Glu4727Lys) |
single nucleotide variant |
not provided [RCV001239422] |
Chr5:90791008 [GRCh38] Chr5:90086825 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6786_6790delinsCGGTGG (p.Thr2264fs) |
indel |
not provided [RCV001241129] |
Chr5:90690876..90690880 [GRCh38] Chr5:89986693..89986697 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.6816G>T (p.Trp2272Cys) |
single nucleotide variant |
not provided [RCV001242933] |
Chr5:90690906 [GRCh38] Chr5:89986723 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3235G>A (p.Asp1079Asn) |
single nucleotide variant |
not provided [RCV001217771] |
Chr5:90647710 [GRCh38] Chr5:89943527 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13509C>A (p.Ser4503Arg) |
single nucleotide variant |
not provided [RCV001240036] |
Chr5:90783913 [GRCh38] Chr5:90079730 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9838T>G (p.Tyr3280Asp) |
single nucleotide variant |
not provided [RCV001237840] |
Chr5:90724921 [GRCh38] Chr5:90020738 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11038C>T (p.Arg3680Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003294059]|not provided [RCV001221116] |
Chr5:90750614 [GRCh38] Chr5:90046431 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16123_16124del (p.Gln5375fs) |
deletion |
not provided [RCV001226972] |
Chr5:90815663..90815664 [GRCh38] Chr5:90111480..90111481 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.5242G>T (p.Gly1748Ter) |
single nucleotide variant |
not provided [RCV001226973] |
Chr5:90675374 [GRCh38] Chr5:89971191 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16342A>C (p.Ile5448Leu) |
single nucleotide variant |
not provided [RCV001243144] |
Chr5:90823570 [GRCh38] Chr5:90119387 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9035C>T (p.Thr3012Ile) |
single nucleotide variant |
not provided [RCV001243145] |
Chr5:90711315 [GRCh38] Chr5:90007132 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.569G>T (p.Gly190Val) |
single nucleotide variant |
not provided [RCV001241414] |
Chr5:90625140 [GRCh38] Chr5:89920957 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18852G>T (p.Glu6284Asp) |
single nucleotide variant |
not provided [RCV001209573] |
Chr5:91163831 [GRCh38] Chr5:90459648 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15884A>T (p.Glu5295Val) |
single nucleotide variant |
not provided [RCV001237888] |
Chr5:90811144 [GRCh38] Chr5:90106961 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.9736G>A (p.Ala3246Thr) |
single nucleotide variant |
not provided [RCV001209872] |
Chr5:90721047 [GRCh38] Chr5:90016864 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5186A>G (p.His1729Arg) |
single nucleotide variant |
not provided [RCV001240642] |
Chr5:90675318 [GRCh38] Chr5:89971135 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3407A>G (p.Asn1136Ser) |
single nucleotide variant |
not provided [RCV001239775] |
Chr5:90651721 [GRCh38] Chr5:89947538 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10444G>A (p.Asp3482Asn) |
single nucleotide variant |
not provided [RCV001225373] |
Chr5:90729659 [GRCh38] Chr5:90025476 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.527G>A (p.Gly176Glu) |
single nucleotide variant |
not provided [RCV001238494] |
Chr5:90622670 [GRCh38] Chr5:89918487 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18880G>A (p.Val6294Met) |
single nucleotide variant |
not provided [RCV001242732] |
Chr5:91163859 [GRCh38] Chr5:90459676 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4985G>A (p.Arg1662His) |
single nucleotide variant |
not provided [RCV001235708] |
Chr5:90674109 [GRCh38] Chr5:89969926 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3001G>A (p.Asp1001Asn) |
single nucleotide variant |
not provided [RCV001238786] |
Chr5:90646070 [GRCh38] Chr5:89941887 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13757A>G (p.Glu4586Gly) |
single nucleotide variant |
See cases [RCV002252329]|not provided [RCV001204187] |
Chr5:90788174 [GRCh38] Chr5:90083991 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13981G>A (p.Glu4661Lys) |
single nucleotide variant |
not provided [RCV001207541] |
Chr5:90789789 [GRCh38] Chr5:90085606 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15419C>A (p.Thr5140Lys) |
single nucleotide variant |
not provided [RCV001225664] |
Chr5:90810679 [GRCh38] Chr5:90106496 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8746C>G (p.Leu2916Val) |
single nucleotide variant |
not provided [RCV001226112] |
Chr5:90708831 [GRCh38] Chr5:90004648 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5469A>G (p.Gly1823=) |
single nucleotide variant |
not provided [RCV002069268]|not specified [RCV001195317] |
Chr5:90679574 [GRCh38] Chr5:89975391 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6044A>T (p.Tyr2015Phe) |
single nucleotide variant |
not provided [RCV001204363] |
Chr5:90683965 [GRCh38] Chr5:89979782 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.11018T>C (p.Leu3673Pro) |
single nucleotide variant |
not provided [RCV001204421] |
Chr5:90750594 [GRCh38] Chr5:90046411 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.11674C>T (p.Arg3892Trp) |
single nucleotide variant |
not provided [RCV001212565] |
Chr5:90756547 [GRCh38] Chr5:90052364 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.16072A>G (p.Ile5358Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003246782]|not provided [RCV001230652] |
Chr5:90811332 [GRCh38] Chr5:90107149 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8469T>G (p.His2823Gln) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV001334324]|not provided [RCV001219509] |
Chr5:90705482 [GRCh38] Chr5:90001299 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.16568A>T (p.Asp5523Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003290850] |
Chr5:90829143 [GRCh38] Chr5:90124960 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3788T>A (p.Met1263Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003252017] |
Chr5:90653362 [GRCh38] Chr5:89949179 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11944A>G (p.Thr3982Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003249868] |
Chr5:90759412 [GRCh38] Chr5:90055229 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14356A>T (p.Asn4786Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003292743] |
Chr5:90791185 [GRCh38] Chr5:90087002 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr) |
single nucleotide variant |
Usher syndrome type 2C [RCV000987538] |
Chr5:90716490 [GRCh38] Chr5:90012307 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.14207C>G (p.Ser4736Cys) |
single nucleotide variant |
not provided [RCV001213089] |
Chr5:90791036 [GRCh38] Chr5:90086853 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.11954T>C (p.Ile3985Thr) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153108]|not provided [RCV001364911] |
Chr5:90759422 [GRCh38] Chr5:90055239 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.17904G>T (p.Glu5968Asp) |
single nucleotide variant |
not provided [RCV001228440] |
Chr5:90965462 [GRCh38] Chr5:90261279 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5471G>A (p.Ser1824Asn) |
single nucleotide variant |
not provided [RCV001229758] |
Chr5:90679576 [GRCh38] Chr5:89975393 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15401A>G (p.Asp5134Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002558328]|Usher syndrome type 2C [RCV001153320] |
Chr5:90810661 [GRCh38] Chr5:90106478 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.*18G>C |
single nucleotide variant |
Usher syndrome type 2C [RCV001156167]|not provided [RCV001595066] |
Chr5:91163918 [GRCh38] Chr5:90459735 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.*193G>A |
single nucleotide variant |
Usher syndrome type 2C [RCV001156171] |
Chr5:91164093 [GRCh38] Chr5:90459910 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.955_958dup (p.Leu320fs) |
duplication |
Usher syndrome type 2A [RCV001199959] |
Chr5:90627492..90627493 [GRCh38] Chr5:89923309..89923310 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.2769T>C (p.Phe923=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156668] |
Chr5:90644740 [GRCh38] Chr5:89940557 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4171G>A (p.Glu1391Lys) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156789]|not provided [RCV001236644]|not specified [RCV001195223] |
Chr5:90653745 [GRCh38] Chr5:89949562 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.4871T>C (p.Val1624Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003294154]|not provided [RCV001247619] |
Chr5:90672664 [GRCh38] Chr5:89968481 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.5665G>A (p.Val1889Ile) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156882]|not provided [RCV001882493] |
Chr5:90683586 [GRCh38] Chr5:89979403 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4373C>G (p.Thr1458Ser) |
single nucleotide variant |
not specified [RCV001195221] |
Chr5:90653947 [GRCh38] Chr5:89949764 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.16845C>A (p.Ala5615=) |
single nucleotide variant |
not specified [RCV001195319] |
Chr5:90840811 [GRCh38] Chr5:90136628 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5506C>T (p.Pro1836Ser) |
single nucleotide variant |
not provided [RCV001229006] |
Chr5:90679611 [GRCh38] Chr5:89975428 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7892C>G (p.Ala2631Gly) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157107] |
Chr5:90694648 [GRCh38] Chr5:89990465 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2105T>G (p.Val702Gly) |
single nucleotide variant |
not provided [RCV001247299] |
Chr5:90637813 [GRCh38] Chr5:89933630 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16805del (p.Pro5602fs) |
deletion |
not provided [RCV001092761] |
Chr5:90840769 [GRCh38] Chr5:90136586 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.4851T>C (p.Thr1617=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154377]|not provided [RCV001498209] |
Chr5:90672644 [GRCh38] Chr5:89968461 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.4929+6C>A |
single nucleotide variant |
Usher syndrome type 2C [RCV001154379]|not provided [RCV001340716] |
Chr5:90672728 [GRCh38] Chr5:89968545 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5156C>T (p.Ala1719Val) |
single nucleotide variant |
not provided [RCV001053302] |
Chr5:90675288 [GRCh38] Chr5:89971105 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.2864C>A (p.Ser955Ter) |
single nucleotide variant |
Usher syndrome [RCV003324548]|not provided [RCV001008648] |
Chr5:90644835 [GRCh38] Chr5:89940652 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16308C>T (p.Thr5436=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157634]|not provided [RCV002070942] |
Chr5:90823536 [GRCh38] Chr5:90119353 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.10016G>A (p.Ser3339Asn) |
single nucleotide variant |
not provided [RCV001246762] |
Chr5:90725195 [GRCh38] Chr5:90021012 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2412C>T (p.Ser804=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155009]|not provided [RCV002070898] |
Chr5:90642900 [GRCh38] Chr5:89938717 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.18836G>T (p.Gly6279Val) |
single nucleotide variant |
not provided [RCV001229913] |
Chr5:91163815 [GRCh38] Chr5:90459632 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3185T>C (p.Ile1062Thr) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151212]|not provided [RCV002281164] |
Chr5:90647660 [GRCh38] Chr5:89943477 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13160G>A (p.Arg4387His) |
single nucleotide variant |
not provided [RCV001201530] |
Chr5:90781507 [GRCh38] Chr5:90077324 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.11339G>A (p.Arg3780His) |
single nucleotide variant |
not provided [RCV001212109] |
Chr5:90753791 [GRCh38] Chr5:90049608 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.5800G>C (p.Glu1934Gln) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151459] |
Chr5:90683721 [GRCh38] Chr5:89979538 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10308A>T (p.Arg3436Ser) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155640]|not provided [RCV001859016] |
Chr5:90728815 [GRCh38] Chr5:90024632 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.10440A>T (p.Ser3480=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155643] |
Chr5:90729655 [GRCh38] Chr5:90025472 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12850-1G>T |
single nucleotide variant |
not provided [RCV001228348] |
Chr5:90778864 [GRCh38] Chr5:90074681 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.1441G>A (p.Glu481Lys) |
single nucleotide variant |
not provided [RCV003104573] |
Chr5:90628764 [GRCh38] Chr5:89924581 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17174C>A (p.Thr5725Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003291698] |
Chr5:90848791 [GRCh38] Chr5:90144608 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13850G>A (p.Gly4617Glu) |
single nucleotide variant |
not provided [RCV003106281] |
Chr5:90788267 [GRCh38] Chr5:90084084 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5133G>A (p.Gly1711=) |
single nucleotide variant |
not provided [RCV003104599] |
Chr5:90675265 [GRCh38] Chr5:89971082 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.454-169T>C |
single nucleotide variant |
not provided [RCV001641940] |
Chr5:90622428 [GRCh38] Chr5:89918245 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.13082+133A>G |
single nucleotide variant |
not provided [RCV001549590] |
Chr5:90779230 [GRCh38] Chr5:90075047 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5525-33T>C |
single nucleotide variant |
not provided [RCV001576240] |
Chr5:90681282 [GRCh38] Chr5:89977099 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6275-182ATAA[12] |
microsatellite |
not provided [RCV001609366] |
Chr5:90685597..90685598 [GRCh38] Chr5:89981414..89981415 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.2554-256C>T |
single nucleotide variant |
not provided [RCV001582245] |
Chr5:90643547 [GRCh38] Chr5:89939364 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9448-292A>G |
single nucleotide variant |
not provided [RCV001550568] |
Chr5:90719756 [GRCh38] Chr5:90015573 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10550-104G>A |
single nucleotide variant |
not provided [RCV001576947] |
Chr5:90744942 [GRCh38] Chr5:90040759 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9447+49C>A |
single nucleotide variant |
not provided [RCV001569487] |
Chr5:90716778 [GRCh38] Chr5:90012595 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8903+24C>T |
single nucleotide variant |
not provided [RCV001569758] |
Chr5:90711083 [GRCh38] Chr5:90006900 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13083-294C>T |
single nucleotide variant |
not provided [RCV001577477] |
Chr5:90781136 [GRCh38] Chr5:90076953 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6952-281A>G |
single nucleotide variant |
not provided [RCV001547179] |
Chr5:90692324 [GRCh38] Chr5:89988141 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.454-81C>T |
single nucleotide variant |
not provided [RCV001547708] |
Chr5:90622516 [GRCh38] Chr5:89918333 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16612-65G>C |
single nucleotide variant |
not provided [RCV001552281] |
Chr5:90840513 [GRCh38] Chr5:90136330 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13083-68G>A |
single nucleotide variant |
not provided [RCV001552480] |
Chr5:90781362 [GRCh38] Chr5:90077179 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11581-36A>G |
single nucleotide variant |
not provided [RCV001559871] |
Chr5:90756418 [GRCh38] Chr5:90052235 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18907G>A (p.Asp6303Asn) |
single nucleotide variant |
not provided [RCV001560036] |
Chr5:91163886 [GRCh38] Chr5:90459703 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17974-116A>G |
single nucleotide variant |
not provided [RCV001673353] |
Chr5:90985228 [GRCh38] Chr5:90281045 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.10161+35del |
deletion |
not provided [RCV001694905] |
Chr5:90725683 [GRCh38] Chr5:90021500 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.13083-219G>A |
single nucleotide variant |
not provided [RCV001637649] |
Chr5:90781211 [GRCh38] Chr5:90077028 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12403+188A>G |
single nucleotide variant |
not provided [RCV001549830] |
Chr5:90774491 [GRCh38] Chr5:90070308 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13083-55G>T |
single nucleotide variant |
not provided [RCV001560789] |
Chr5:90781375 [GRCh38] Chr5:90077192 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14517+275A>G |
single nucleotide variant |
not provided [RCV001688262] |
Chr5:90791621 [GRCh38] Chr5:90087438 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.14043+75A>G |
single nucleotide variant |
not provided [RCV001713233] |
Chr5:90789926 [GRCh38] Chr5:90085743 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12120+48A>G |
single nucleotide variant |
not provided [RCV001725274] |
Chr5:90759636 [GRCh38] Chr5:90055453 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.8156-50_8156-41dup |
duplication |
not provided [RCV001612177] |
Chr5:90703613..90703614 [GRCh38] Chr5:89999430..89999431 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.10558C>T (p.Leu3520Phe) |
single nucleotide variant |
Retinitis pigmentosa [RCV001591782]|not provided [RCV002573305] |
Chr5:90745054 [GRCh38] Chr5:90040871 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14363C>T (p.Thr4788Ile) |
single nucleotide variant |
Usher syndrome type 2C [RCV001591880] |
Chr5:90791192 [GRCh38] Chr5:90087009 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18153-126C>G |
single nucleotide variant |
not provided [RCV001555713] |
Chr5:91072321 [GRCh38] Chr5:90368138 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4379-331G>A |
single nucleotide variant |
not provided [RCV001561127] |
Chr5:90657574 [GRCh38] Chr5:89953391 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10975-112C>A |
single nucleotide variant |
not provided [RCV001561250] |
Chr5:90750439 [GRCh38] Chr5:90046256 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3417-125G>A |
single nucleotide variant |
not provided [RCV001583982] |
Chr5:90652221 [GRCh38] Chr5:89948038 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8155+286A>G |
single nucleotide variant |
not provided [RCV001569314] |
Chr5:90697432 [GRCh38] Chr5:89993249 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14520C>G (p.Val4840=) |
single nucleotide variant |
not provided [RCV001555984] |
Chr5:90802741 [GRCh38] Chr5:90098558 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16611+293T>C |
single nucleotide variant |
not provided [RCV001561678] |
Chr5:90829479 [GRCh38] Chr5:90125296 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9748+241C>T |
single nucleotide variant |
not provided [RCV001598021] |
Chr5:90721300 [GRCh38] Chr5:90017117 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.18433-183_18433-181dup |
duplication |
not provided [RCV001661157] |
Chr5:91149831..91149832 [GRCh38] Chr5:90445648..90445649 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.18433-182_18433-181dup |
duplication |
not provided [RCV001596809] |
Chr5:91149831..91149832 [GRCh38] Chr5:90445648..90445649 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.17020-107T>A |
single nucleotide variant |
not provided [RCV001668830] |
Chr5:90848530 [GRCh38] Chr5:90144347 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.7946-44G>A |
single nucleotide variant |
not provided [RCV001586919] |
Chr5:90696893 [GRCh38] Chr5:89992710 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6490+168G>T |
single nucleotide variant |
not provided [RCV001717795] |
Chr5:90686163 [GRCh38] Chr5:89981980 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.5110+107C>T |
single nucleotide variant |
not provided [RCV001671754] |
Chr5:90674341 [GRCh38] Chr5:89970158 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.18432+112T>C |
single nucleotide variant |
not provided [RCV001677459] |
Chr5:91102452 [GRCh38] Chr5:90398269 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.18753C>T (p.Ala6251=) |
single nucleotide variant |
not provided [RCV001577191] |
Chr5:91153349 [GRCh38] Chr5:90449166 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17973+296G>A |
single nucleotide variant |
not provided [RCV001562223] |
Chr5:90965827 [GRCh38] Chr5:90261644 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6951+105T>G |
single nucleotide variant |
not provided [RCV001619673] |
Chr5:90691146 [GRCh38] Chr5:89986963 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.558+287G>A |
single nucleotide variant |
not provided [RCV001562338] |
Chr5:90622988 [GRCh38] Chr5:89918805 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17755+180A>G |
single nucleotide variant |
not provided [RCV001562531] |
Chr5:90856081 [GRCh38] Chr5:90151898 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18311-119C>T |
single nucleotide variant |
not provided [RCV001649743] |
Chr5:91102100 [GRCh38] Chr5:90397917 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.10549+250C>T |
single nucleotide variant |
not provided [RCV001594074] |
Chr5:90730014 [GRCh38] Chr5:90025831 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18310+42T>C |
single nucleotide variant |
not provided [RCV001587551] |
Chr5:91072646 [GRCh38] Chr5:90368463 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14662-249T>C |
single nucleotide variant |
not provided [RCV001687489] |
Chr5:90805035 [GRCh38] Chr5:90100852 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.11121+230T>C |
single nucleotide variant |
not provided [RCV001669687] |
Chr5:90750927 [GRCh38] Chr5:90046744 [GRCh37] Chr5:5q14.3 |
benign |
NC_000005.10:g.90558750G>A |
single nucleotide variant |
not provided [RCV001581498] |
Chr5:90558750 [GRCh38] Chr5:89854567 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11581-308A>G |
single nucleotide variant |
not provided [RCV001577810] |
Chr5:90756146 [GRCh38] Chr5:90051963 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8824+50A>C |
single nucleotide variant |
not provided [RCV001577830] |
Chr5:90708959 [GRCh38] Chr5:90004776 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12527+129A>T |
single nucleotide variant |
not provided [RCV001570345] |
Chr5:90776705 [GRCh38] Chr5:90072522 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.207+220G>T |
single nucleotide variant |
not provided [RCV001557611] |
Chr5:90615239 [GRCh38] Chr5:89911056 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4379-62C>G |
single nucleotide variant |
not provided [RCV001557613] |
Chr5:90657843 [GRCh38] Chr5:89953660 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3780A>G (p.Glu1260=) |
single nucleotide variant |
not provided [RCV001726654]|not specified [RCV001700550] |
Chr5:90653354 [GRCh38] Chr5:89949171 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.12285+27A>G |
single nucleotide variant |
not provided [RCV001592382] |
Chr5:90763496 [GRCh38] Chr5:90059313 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18624+245C>T |
single nucleotide variant |
not provided [RCV001718330] |
Chr5:91150466 [GRCh38] Chr5:90446283 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.2899-297A>T |
single nucleotide variant |
not provided [RCV001571547] |
Chr5:90645671 [GRCh38] Chr5:89941488 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10770-120G>A |
single nucleotide variant |
not provided [RCV001614330] |
Chr5:90745471 [GRCh38] Chr5:90041288 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.17973+112C>G |
single nucleotide variant |
not provided [RCV001575431] |
Chr5:90965643 [GRCh38] Chr5:90261460 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4753-130G>C |
single nucleotide variant |
not provided [RCV001548657] |
Chr5:90672416 [GRCh38] Chr5:89968233 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14661+58A>G |
single nucleotide variant |
not provided [RCV001568189] |
Chr5:90802940 [GRCh38] Chr5:90098757 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17205-210G>A |
single nucleotide variant |
not provided [RCV001549462] |
Chr5:90853074 [GRCh38] Chr5:90148891 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10549+118_10549+119dup |
duplication |
not provided [RCV001546638] |
Chr5:90729870..90729871 [GRCh38] Chr5:90025687..90025688 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11580+50T>G |
single nucleotide variant |
not provided [RCV001546877] |
Chr5:90755235 [GRCh38] Chr5:90051052 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6277C>A (p.Pro2093Thr) |
single nucleotide variant |
not provided [RCV001570663] |
Chr5:90685782 [GRCh38] Chr5:89981599 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9185-192G>A |
single nucleotide variant |
not provided [RCV001558905] |
Chr5:90716275 [GRCh38] Chr5:90012092 [GRCh37] Chr5:5q14.3 |
likely benign |
NC_000005.10:g.90558666G>A |
single nucleotide variant |
not provided [RCV001643977] |
Chr5:90558666 [GRCh38] Chr5:89854483 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.558+116T>G |
single nucleotide variant |
not provided [RCV001650541] |
Chr5:90622817 [GRCh38] Chr5:89918634 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.453+23A>C |
single nucleotide variant |
not provided [RCV001676996] |
Chr5:90619204 [GRCh38] Chr5:89915021 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12181G>C (p.Val4061Leu) |
single nucleotide variant |
not provided [RCV001589945] |
Chr5:90763365 [GRCh38] Chr5:90059182 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14973-5C>T |
single nucleotide variant |
not provided [RCV001552725] |
Chr5:90810228 [GRCh38] Chr5:90106045 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.207+82_207+85del |
deletion |
not provided [RCV001714911] |
Chr5:90615099..90615102 [GRCh38] Chr5:89910916..89910919 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.4379-172T>A |
single nucleotide variant |
not provided [RCV001677281] |
Chr5:90657733 [GRCh38] Chr5:89953550 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.6275-134_6275-131del |
microsatellite |
not provided [RCV001677322] |
Chr5:90685641..90685644 [GRCh38] Chr5:89981458..89981461 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.558+124_558+125del |
microsatellite |
not provided [RCV001621891] |
Chr5:90622823..90622824 [GRCh38] Chr5:89918640..89918641 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.358-149A>G |
single nucleotide variant |
not provided [RCV001609863] |
Chr5:90618937 [GRCh38] Chr5:89914754 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.8731-158G>A |
single nucleotide variant |
not provided [RCV001552928] |
Chr5:90708658 [GRCh38] Chr5:90004475 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9748+325G>T |
single nucleotide variant |
not provided [RCV001715449] |
Chr5:90721384 [GRCh38] Chr5:90017201 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.14187T>C (p.Asp4729=) |
single nucleotide variant |
not provided [RCV000921037] |
Chr5:90791016 [GRCh38] Chr5:90086833 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17756-4A>G |
single nucleotide variant |
not provided [RCV000933516] |
Chr5:90863753 [GRCh38] Chr5:90159570 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6795C>T (p.Leu2265=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151569]|not provided [RCV000905256] |
Chr5:90690885 [GRCh38] Chr5:89986702 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12195A>G (p.Gly4065=) |
single nucleotide variant |
not provided [RCV000979619] |
Chr5:90763379 [GRCh38] Chr5:90059196 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.2058T>C (p.Ala686=) |
single nucleotide variant |
not provided [RCV000975260] |
Chr5:90637766 [GRCh38] Chr5:89933583 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8064C>T (p.Ser2688=) |
single nucleotide variant |
Usher syndrome type 2C [RCV002495535]|not provided [RCV000919218] |
Chr5:90697055 [GRCh38] Chr5:89992872 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13059T>C (p.Ile4353=) |
single nucleotide variant |
not provided [RCV000932576] |
Chr5:90779074 [GRCh38] Chr5:90074891 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18906C>T (p.Ala6302=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153550]|not provided [RCV000975419] |
Chr5:91163885 [GRCh38] Chr5:90459702 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.10458G>A (p.Trp3486Ter) |
single nucleotide variant |
Usher syndrome type 2 [RCV000857228]|not provided [RCV001268686] |
Chr5:90729673 [GRCh38] Chr5:90025490 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16368+40A>G |
single nucleotide variant |
not provided [RCV001766145] |
Chr5:90823636 [GRCh38] Chr5:90119453 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18433-4del |
deletion |
not provided [RCV000907344] |
Chr5:91150026 [GRCh38] Chr5:90445843 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18360T>C (p.Leu6120=) |
single nucleotide variant |
not provided [RCV000910853] |
Chr5:91102268 [GRCh38] Chr5:90398085 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6320A>C (p.Gln2107Pro) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155316]|not provided [RCV000932170]|not specified [RCV001195294] |
Chr5:90685825 [GRCh38] Chr5:89981642 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.17051G>C (p.Ser5684Thr) |
single nucleotide variant |
not provided [RCV001212281] |
Chr5:90848668 [GRCh38] Chr5:90144485 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12672del (p.Asn4225fs) |
deletion |
not provided [RCV001244283] |
Chr5:90778432 [GRCh38] Chr5:90074249 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.12314A>G (p.His4105Arg) |
single nucleotide variant |
not provided [RCV001244290] |
Chr5:90774214 [GRCh38] Chr5:90070031 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10820T>C (p.Val3607Ala) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157310]|not provided [RCV001060961] |
Chr5:90745641 [GRCh38] Chr5:90041458 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12552G>C (p.Leu4184Phe) |
single nucleotide variant |
not provided [RCV001238861] |
Chr5:90777929 [GRCh38] Chr5:90073746 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.409A>G (p.Ile137Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003259125]|Usher syndrome type 2C [RCV001154049]|not provided [RCV002070882] |
Chr5:90619137 [GRCh38] Chr5:89914954 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15701A>G (p.Lys5234Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003246761]|not provided [RCV001212486] |
Chr5:90810961 [GRCh38] Chr5:90106778 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6262C>T (p.Gln2088Ter) |
single nucleotide variant |
not provided [RCV001067675] |
Chr5:90684183 [GRCh38] Chr5:89980000 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.578C>T (p.Pro193Leu) |
single nucleotide variant |
not provided [RCV001226223] |
Chr5:90625149 [GRCh38] Chr5:89920966 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18059T>C (p.Leu6020Pro) |
single nucleotide variant |
not provided [RCV001244593] |
Chr5:90985429 [GRCh38] Chr5:90281246 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3195dup (p.Gly1066fs) |
duplication |
Usher syndrome type 2 [RCV001199635] |
Chr5:90647668..90647669 [GRCh38] Chr5:89943485..89943486 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.10811C>T (p.Thr3604Ile) |
single nucleotide variant |
not provided [RCV001226746] |
Chr5:90745632 [GRCh38] Chr5:90041449 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2116delinsTT (p.Asp706fs) |
indel |
not provided [RCV001244681] |
Chr5:90637824 [GRCh38] Chr5:89933641 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.18019G>A (p.Glu6007Lys) |
single nucleotide variant |
not provided [RCV001230287] |
Chr5:90985389 [GRCh38] Chr5:90281206 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.2301G>T (p.Leu767Phe) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154174] |
Chr5:90642696 [GRCh38] Chr5:89938513 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3338C>A (p.Ala1113Asp) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154286]|not provided [RCV002032422]|not specified [RCV003155364] |
Chr5:90651652 [GRCh38] Chr5:89947469 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3431G>A (p.Arg1144Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003259176]|Usher syndrome type 2C [RCV002504299]|not provided [RCV001227264] |
Chr5:90652360 [GRCh38] Chr5:89948177 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.11783A>G (p.Tyr3928Cys) |
single nucleotide variant |
Hearing impairment [RCV001375356]|not provided [RCV001245052] |
Chr5:90757004 [GRCh38] Chr5:90052821 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7264C>T (p.Leu2422Phe) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154585]|not provided [RCV001859010] |
Chr5:90694020 [GRCh38] Chr5:89989837 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.268G>A (p.Gly90Arg) |
single nucleotide variant |
not provided [RCV001239935] |
Chr5:90617864 [GRCh38] Chr5:89913681 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16225C>T (p.Arg5409Ter) |
single nucleotide variant |
not provided [RCV001243420] |
Chr5:90823453 [GRCh38] Chr5:90119270 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.16826A>T (p.Asp5609Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152168]|not provided [RCV002558322] |
Chr5:90840792 [GRCh38] Chr5:90136609 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3731T>C (p.Leu1244Ser) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155120] |
Chr5:90653305 [GRCh38] Chr5:89949122 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8459A>G (p.Asp2820Gly) |
single nucleotide variant |
not provided [RCV001213621] |
Chr5:90705472 [GRCh38] Chr5:90001289 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.7771G>A (p.Glu2591Lys) |
single nucleotide variant |
not provided [RCV001227438] |
Chr5:90694527 [GRCh38] Chr5:89990344 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.1048_1049dup (p.Ile351fs) |
microsatellite |
not provided [RCV001227588] |
Chr5:90627583..90627584 [GRCh38] Chr5:89923400..89923401 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1217T>C (p.Ile406Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002564069]|not provided [RCV001243624] |
Chr5:90627755 [GRCh38] Chr5:89923572 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.5260A>G (p.Thr1754Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002568569]|not provided [RCV001243653] |
Chr5:90675392 [GRCh38] Chr5:89971209 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.5029T>G (p.Ser1677Ala) |
single nucleotide variant |
not provided [RCV001245421] |
Chr5:90674153 [GRCh38] Chr5:89969970 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7527A>G (p.Gln2509=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155421]|not provided [RCV001522593] |
Chr5:90694283 [GRCh38] Chr5:89990100 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.7684C>A (p.Gln2562Lys) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155424]|not provided [RCV001242117] |
Chr5:90694440 [GRCh38] Chr5:89990257 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.8668A>G (p.Ile2890Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155527]|not provided [RCV002032434] |
Chr5:90706332 [GRCh38] Chr5:90002149 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9143C>G (p.Thr3048Arg) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155533] |
Chr5:90712387 [GRCh38] Chr5:90008204 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11266A>G (p.Ile3756Val) |
single nucleotide variant |
not provided [RCV001245420] |
Chr5:90753718 [GRCh38] Chr5:90049535 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13722C>T (p.Asp4574=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155815]|not provided [RCV001444178] |
Chr5:90788139 [GRCh38] Chr5:90083956 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13897C>T (p.Gln4633Ter) |
single nucleotide variant |
ADGRV1-related condition [RCV003413958]|Usher syndrome type 2C [RCV001155818] |
Chr5:90789705 [GRCh38] Chr5:90085522 [GRCh37] Chr5:5q14.3 |
likely pathogenic|uncertain significance |
NM_032119.4(ADGRV1):c.5607G>C (p.Glu1869Asp) |
single nucleotide variant |
not provided [RCV001055406] |
Chr5:90681397 [GRCh38] Chr5:89977214 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9820A>G (p.Thr3274Ala) |
single nucleotide variant |
not provided [RCV001055981] |
Chr5:90724903 [GRCh38] Chr5:90020720 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.2974A>G (p.Thr992Ala) |
single nucleotide variant |
Usher syndrome type 2C [RCV002505606]|not provided [RCV001053632] |
Chr5:90646043 [GRCh38] Chr5:89941860 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.*270C>A |
single nucleotide variant |
Usher syndrome type 2C [RCV001156173] |
Chr5:91164170 [GRCh38] Chr5:90459987 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3040G>T (p.Val1014Phe) |
single nucleotide variant |
not provided [RCV001231298] |
Chr5:90647515 [GRCh38] Chr5:89943332 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12369A>G (p.Ile4123Met) |
single nucleotide variant |
not provided [RCV001057208] |
Chr5:90774269 [GRCh38] Chr5:90070086 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.1367T>C (p.Leu456Pro) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156564] |
Chr5:90628690 [GRCh38] Chr5:89924507 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7540C>G (p.Gln2514Glu) |
single nucleotide variant |
not provided [RCV001063675] |
Chr5:90694296 [GRCh38] Chr5:89990113 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14410T>C (p.Ser4804Pro) |
single nucleotide variant |
not provided [RCV001217336] |
Chr5:90791239 [GRCh38] Chr5:90087056 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11722G>A (p.Asp3908Asn) |
single nucleotide variant |
not provided [RCV001237787] |
Chr5:90756595 [GRCh38] Chr5:90052412 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2666T>C (p.Ile889Thr) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156666]|not provided [RCV002559505] |
Chr5:90643915 [GRCh38] Chr5:89939732 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.13495C>T (p.Arg4499Cys) |
single nucleotide variant |
not provided [RCV001241208] |
Chr5:90783899 [GRCh38] Chr5:90079716 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.6526T>A (p.Leu2176Met) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156986] |
Chr5:90689896 [GRCh38] Chr5:89985713 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16979C>A (p.Thr5660Lys) |
single nucleotide variant |
not provided [RCV001234910] |
Chr5:90840945 [GRCh38] Chr5:90136762 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6768_6769delinsTT (p.Pro2257Ser) |
indel |
not provided [RCV001227632] |
Chr5:90690858..90690859 [GRCh38] Chr5:89986675..89986676 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13933G>A (p.Ala4645Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002563118]|not provided [RCV001227715] |
Chr5:90789741 [GRCh38] Chr5:90085558 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8465C>A (p.Pro2822Gln) |
single nucleotide variant |
not provided [RCV001059362] |
Chr5:90705478 [GRCh38] Chr5:90001295 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14665G>A (p.Gly4889Arg) |
single nucleotide variant |
not provided [RCV001229497] |
Chr5:90805287 [GRCh38] Chr5:90101104 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11127A>C (p.Leu3709Phe) |
single nucleotide variant |
not provided [RCV001221025] |
Chr5:90753579 [GRCh38] Chr5:90049396 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4463G>A (p.Arg1488Gln) |
single nucleotide variant |
not provided [RCV001221023] |
Chr5:90657989 [GRCh38] Chr5:89953806 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.3358A>G (p.Ile1120Val) |
single nucleotide variant |
not provided [RCV001244072] |
Chr5:90651672 [GRCh38] Chr5:89947489 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16375C>T (p.Gln5459Ter) |
single nucleotide variant |
not provided [RCV001244077] |
Chr5:90828950 [GRCh38] Chr5:90124767 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16337G>C (p.Cys5446Ser) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157637]|not provided [RCV002032460] |
Chr5:90823565 [GRCh38] Chr5:90119382 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.18153-13A>T |
single nucleotide variant |
Usher syndrome type 2C [RCV001157755]|not provided [RCV001429028] |
Chr5:91072434 [GRCh38] Chr5:90368251 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.8306T>C (p.Leu2769Ser) |
single nucleotide variant |
not provided [RCV001228139] |
Chr5:90704408 [GRCh38] Chr5:90000225 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3833T>C (p.Phe1278Ser) |
single nucleotide variant |
not provided [RCV001244157] |
Chr5:90653407 [GRCh38] Chr5:89949224 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16266T>C (p.Asp5422=) |
single nucleotide variant |
not provided [RCV000911361] |
Chr5:90823494 [GRCh38] Chr5:90119311 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2660A>G (p.His887Arg) |
single nucleotide variant |
not provided [RCV000998403] |
Chr5:90643909 [GRCh38] Chr5:89939726 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.12511G>T (p.Gly4171Cys) |
single nucleotide variant |
ADGRV1-related myoclonic epilepsy [RCV000991205] |
Chr5:90776560 [GRCh38] Chr5:90072377 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.18094T>C (p.Leu6032=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157754]|not provided [RCV000912438]|not specified [RCV001449787] |
Chr5:90985464 [GRCh38] Chr5:90281281 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6228C>T (p.Ile2076=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154487]|not provided [RCV000913938] |
Chr5:90684149 [GRCh38] Chr5:89979966 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15078T>C (p.His5026=) |
single nucleotide variant |
not provided [RCV000913990] |
Chr5:90810338 [GRCh38] Chr5:90106155 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2589C>T (p.His863=) |
single nucleotide variant |
not provided [RCV000913998] |
Chr5:90643838 [GRCh38] Chr5:89939655 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2367+9G>A |
single nucleotide variant |
not provided [RCV000911865] |
Chr5:90642771 [GRCh38] Chr5:89938588 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18234G>A (p.Val6078=) |
single nucleotide variant |
not provided [RCV000911954] |
Chr5:91072528 [GRCh38] Chr5:90368345 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14898C>T (p.Ser4966=) |
single nucleotide variant |
not provided [RCV000912826] |
Chr5:90807663 [GRCh38] Chr5:90103480 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10975-178_10975-177del |
deletion |
not provided [RCV001561675] |
Chr5:90750373..90750374 [GRCh38] Chr5:90046190..90046191 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10549+203G>T |
single nucleotide variant |
not provided [RCV001561914] |
Chr5:90729967 [GRCh38] Chr5:90025784 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2240+306del |
deletion |
not provided [RCV001562142] |
Chr5:90638245 [GRCh38] Chr5:89934062 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17594+190A>C |
single nucleotide variant |
not provided [RCV001574543] |
Chr5:90854391 [GRCh38] Chr5:90150208 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5524+181A>G |
single nucleotide variant |
not provided [RCV001656728] |
Chr5:90679810 [GRCh38] Chr5:89975627 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.23-130G>A |
single nucleotide variant |
not provided [RCV001676871] |
Chr5:90614705 [GRCh38] Chr5:89910522 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.17856+215C>T |
single nucleotide variant |
not provided [RCV001620792] |
Chr5:90864072 [GRCh38] Chr5:90159889 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.9185-296G>T |
single nucleotide variant |
not provided [RCV001551179] |
Chr5:90716171 [GRCh38] Chr5:90011988 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2898+219G>C |
single nucleotide variant |
not provided [RCV001557125] |
Chr5:90645088 [GRCh38] Chr5:89940905 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16369-268C>T |
single nucleotide variant |
not provided [RCV001567165] |
Chr5:90828676 [GRCh38] Chr5:90124493 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17205-107T>C |
single nucleotide variant |
not provided [RCV001557328] |
Chr5:90853177 [GRCh38] Chr5:90148994 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6275-137A>T |
single nucleotide variant |
not provided [RCV001557403] |
Chr5:90685643 [GRCh38] Chr5:89981460 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7135G>A (p.Gly2379Arg) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV001810302]|not provided [RCV001730399] |
Chr5:90693891 [GRCh38] Chr5:89989708 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8731-159C>T |
single nucleotide variant |
not provided [RCV001575231] |
Chr5:90708657 [GRCh38] Chr5:90004474 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14044-91_14044-90del |
deletion |
not provided [RCV001677373] |
Chr5:90790774..90790775 [GRCh38] Chr5:90086591..90086592 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.559-253T>C |
single nucleotide variant |
not provided [RCV001637498] |
Chr5:90624877 [GRCh38] Chr5:89920694 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.10770-111T>C |
single nucleotide variant |
not provided [RCV001577911] |
Chr5:90745480 [GRCh38] Chr5:90041297 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12495C>G (p.Pro4165=) |
single nucleotide variant |
not provided [RCV001570450] |
Chr5:90776544 [GRCh38] Chr5:90072361 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18625-85A>C |
single nucleotide variant |
not provided [RCV001552024] |
Chr5:91153136 [GRCh38] Chr5:90448953 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7007G>A (p.Arg2336Gln) |
single nucleotide variant |
not provided [RCV000991489] |
Chr5:90692660 [GRCh38] Chr5:89988477 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.9255C>A (p.Phe3085Leu) |
single nucleotide variant |
not provided [RCV000991492] |
Chr5:90716537 [GRCh38] Chr5:90012354 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1840-44A>G |
single nucleotide variant |
not provided [RCV001558409] |
Chr5:90635070 [GRCh38] Chr5:89930887 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12285+217G>A |
single nucleotide variant |
not provided [RCV001613537] |
Chr5:90763686 [GRCh38] Chr5:90059503 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.6275-136T>A |
single nucleotide variant |
not provided [RCV001552068] |
Chr5:90685644 [GRCh38] Chr5:89981461 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4929+244A>G |
single nucleotide variant |
not provided [RCV001578120] |
Chr5:90672966 [GRCh38] Chr5:89968783 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5665-291C>T |
single nucleotide variant |
not provided [RCV001558204] |
Chr5:90683295 [GRCh38] Chr5:89979112 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4752+178C>T |
single nucleotide variant |
not provided [RCV001563540] |
Chr5:90658456 [GRCh38] Chr5:89954273 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11121+22A>G |
single nucleotide variant |
not provided [RCV001657536] |
Chr5:90750719 [GRCh38] Chr5:90046536 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12121-140T>G |
single nucleotide variant |
not provided [RCV001643640] |
Chr5:90763165 [GRCh38] Chr5:90058982 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.358-199C>G |
single nucleotide variant |
not provided [RCV001609408] |
Chr5:90618887 [GRCh38] Chr5:89914704 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.4752+39C>A |
single nucleotide variant |
not provided [RCV001593932] |
Chr5:90658317 [GRCh38] Chr5:89954134 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1238+142AC[26] |
microsatellite |
not provided [RCV001693559] |
Chr5:90627917..90627918 [GRCh38] Chr5:89923734..89923735 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.1840-302_1840-299del |
microsatellite |
not provided [RCV001709885] |
Chr5:90634807..90634810 [GRCh38] Chr5:89930624..89930627 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12850-31C>T |
single nucleotide variant |
not provided [RCV001560160] |
Chr5:90778834 [GRCh38] Chr5:90074651 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16197-44G>A |
single nucleotide variant |
not provided [RCV001640852] |
Chr5:90823381 [GRCh38] Chr5:90119198 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.11941-47C>G |
single nucleotide variant |
not provided [RCV001658615] |
Chr5:90759362 [GRCh38] Chr5:90055179 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.3417-305C>T |
single nucleotide variant |
not provided [RCV001553505] |
Chr5:90652041 [GRCh38] Chr5:89947858 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6490+177del |
deletion |
not provided [RCV001560223] |
Chr5:90686163 [GRCh38] Chr5:89981980 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11941-348T>A |
single nucleotide variant |
not provided [RCV001678333] |
Chr5:90759061 [GRCh38] Chr5:90054878 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.2899-294_2899-293del |
microsatellite |
not provided [RCV001554981] |
Chr5:90645672..90645673 [GRCh38] Chr5:89941489..89941490 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17856+31G>A |
single nucleotide variant |
not provided [RCV001555189] |
Chr5:90863888 [GRCh38] Chr5:90159705 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10974+291T>C |
single nucleotide variant |
not provided [RCV001560375] |
Chr5:90746086 [GRCh38] Chr5:90041903 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8824+251C>T |
single nucleotide variant |
not provided [RCV001636148] |
Chr5:90709160 [GRCh38] Chr5:90004977 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.3022+160C>T |
single nucleotide variant |
not provided [RCV001560932] |
Chr5:90646251 [GRCh38] Chr5:89942068 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.664G>A (p.Asp222Asn) |
single nucleotide variant |
not provided [RCV001568959] |
Chr5:90625235 [GRCh38] Chr5:89921052 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.9261A>T (p.Arg3087Ser) |
single nucleotide variant |
not provided [RCV003327926] |
Chr5:90716543 [GRCh38] Chr5:90012360 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13083-55G>A |
single nucleotide variant |
not provided [RCV001561113] |
Chr5:90781375 [GRCh38] Chr5:90077192 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11122-220dup |
duplication |
not provided [RCV001659353] |
Chr5:90753345..90753346 [GRCh38] Chr5:90049162..90049163 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.10162-176A>T |
single nucleotide variant |
not provided [RCV001550891] |
Chr5:90728493 [GRCh38] Chr5:90024310 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16611+222A>G |
single nucleotide variant |
not provided [RCV001556252] |
Chr5:90829408 [GRCh38] Chr5:90125225 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11891T>G (p.Leu3964Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003253375] |
Chr5:90757112 [GRCh38] Chr5:90052929 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9782G>A (p.Ser3261Asn) |
single nucleotide variant |
Seizure [RCV001263262] |
Chr5:90724865 [GRCh38] Chr5:90020682 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6332T>C (p.Ile2111Thr) |
single nucleotide variant |
not provided [RCV001052954] |
Chr5:90685837 [GRCh38] Chr5:89981654 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.14224G>A (p.Glu4742Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002553754]|not provided [RCV001053300] |
Chr5:90791053 [GRCh38] Chr5:90086870 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.15566C>T (p.Pro5189Leu) |
single nucleotide variant |
not provided [RCV001057440] |
Chr5:90810826 [GRCh38] Chr5:90106643 [GRCh37] Chr5:5q14.3 |
uncertain significance |
GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3 |
copy number gain |
not provided [RCV001005683] |
Chr5:72790061..97478870 [GRCh37] Chr5:5q13.2-15 |
pathogenic |
GRCh37/hg19 5q14.3(chr5:87611415-89975436)x3 |
copy number gain |
not provided [RCV001005698] |
Chr5:87611415..89975436 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4114_4117del (p.Ile1372fs) |
deletion |
not provided [RCV001008337] |
Chr5:90653688..90653691 [GRCh38] Chr5:89949505..89949508 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.5444-164A>G |
single nucleotide variant |
not provided [RCV001671462] |
Chr5:90679385 [GRCh38] Chr5:89975202 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.358-289C>T |
single nucleotide variant |
not provided [RCV001688009] |
Chr5:90618797 [GRCh38] Chr5:89914614 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.8825-40A>G |
single nucleotide variant |
not provided [RCV001716061] |
Chr5:90710941 [GRCh38] Chr5:90006758 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.17454+16A>G |
single nucleotide variant |
not provided [RCV001538247] |
Chr5:90853549 [GRCh38] Chr5:90149366 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2017-346A>G |
single nucleotide variant |
not provided [RCV001618740] |
Chr5:90637379 [GRCh38] Chr5:89933196 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.559-249dup |
duplication |
not provided [RCV001618825] |
Chr5:90624877..90624878 [GRCh38] Chr5:89920694..89920695 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.9749-314C>T |
single nucleotide variant |
not provided [RCV001592711] |
Chr5:90724518 [GRCh38] Chr5:90020335 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6275-212T>C |
single nucleotide variant |
not provided [RCV001717620] |
Chr5:90685568 [GRCh38] Chr5:89981385 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.16369-319A>G |
single nucleotide variant |
not provided [RCV001593755] |
Chr5:90828625 [GRCh38] Chr5:90124442 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13653+60T>C |
single nucleotide variant |
not provided [RCV001593970] |
Chr5:90784117 [GRCh38] Chr5:90079934 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9749-151C>A |
single nucleotide variant |
not provided [RCV001545580] |
Chr5:90724681 [GRCh38] Chr5:90020498 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6707-95G>C |
single nucleotide variant |
not provided [RCV001619212] |
Chr5:90690702 [GRCh38] Chr5:89986519 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.13654-52G>A |
single nucleotide variant |
not provided [RCV001676328] |
Chr5:90788019 [GRCh38] Chr5:90083836 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.10770-24T>C |
single nucleotide variant |
not provided [RCV001608465] |
Chr5:90745567 [GRCh38] Chr5:90041384 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.3022+320dup |
duplication |
not provided [RCV001688783] |
Chr5:90646402..90646403 [GRCh38] Chr5:89942219..89942220 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.9749-122G>A |
single nucleotide variant |
not provided [RCV001617142] |
Chr5:90724710 [GRCh38] Chr5:90020527 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.11940+302T>C |
single nucleotide variant |
not provided [RCV001657607] |
Chr5:90757463 [GRCh38] Chr5:90053280 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12285+120A>G |
single nucleotide variant |
not provided [RCV001661119] |
Chr5:90763589 [GRCh38] Chr5:90059406 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.18433-184_18433-181dup |
duplication |
not provided [RCV001595349] |
Chr5:91149831..91149832 [GRCh38] Chr5:90445648..90445649 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.16197-37C>T |
single nucleotide variant |
not provided [RCV001616711] |
Chr5:90823388 [GRCh38] Chr5:90119205 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.11580+84_11580+86dup |
duplication |
not provided [RCV001676387] |
Chr5:90755267..90755268 [GRCh38] Chr5:90051084..90051085 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.10427-297G>A |
single nucleotide variant |
not provided [RCV001642096] |
Chr5:90729345 [GRCh38] Chr5:90025162 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.10769+71C>A |
single nucleotide variant |
not provided [RCV001586761] |
Chr5:90745336 [GRCh38] Chr5:90041153 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17857-194T>C |
single nucleotide variant |
not provided [RCV001587756] |
Chr5:90965221 [GRCh38] Chr5:90261038 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11122-334T>C |
single nucleotide variant |
not provided [RCV001715512] |
Chr5:90753240 [GRCh38] Chr5:90049057 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.5110+180T>C |
single nucleotide variant |
not provided [RCV001621726] |
Chr5:90674414 [GRCh38] Chr5:89970231 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.8386+244C>A |
single nucleotide variant |
not provided [RCV001613600] |
Chr5:90704732 [GRCh38] Chr5:90000549 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.14972+216A>G |
single nucleotide variant |
not provided [RCV001649383] |
Chr5:90807953 [GRCh38] Chr5:90103770 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12120+41G>T |
single nucleotide variant |
not provided [RCV001593772] |
Chr5:90759629 [GRCh38] Chr5:90055446 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3289+74A>G |
single nucleotide variant |
not provided [RCV001718319] |
Chr5:90647838 [GRCh38] Chr5:89943655 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.11940+217_11940+218insT |
insertion |
not provided [RCV001637823] |
Chr5:90757378..90757379 [GRCh38] Chr5:90053195..90053196 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.6490+41G>A |
single nucleotide variant |
not provided [RCV001571877] |
Chr5:90686036 [GRCh38] Chr5:89981853 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11941-145A>G |
single nucleotide variant |
not provided [RCV001676287] |
Chr5:90759264 [GRCh38] Chr5:90055081 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.558+266C>G |
single nucleotide variant |
not provided [RCV001716066] |
Chr5:90622967 [GRCh38] Chr5:89918784 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.2240+73del |
deletion |
not provided [RCV001710144] |
Chr5:90638012 [GRCh38] Chr5:89933829 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.17974-181C>G |
single nucleotide variant |
not provided [RCV001592026] |
Chr5:90985163 [GRCh38] Chr5:90280980 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8287-11G>C |
single nucleotide variant |
not specified [RCV001699689] |
Chr5:90704378 [GRCh38] Chr5:90000195 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.10162-202A>T |
single nucleotide variant |
not provided [RCV001636185] |
Chr5:90728467 [GRCh38] Chr5:90024284 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.9624-25C>T |
single nucleotide variant |
not provided [RCV001599058] |
Chr5:90720910 [GRCh38] Chr5:90016727 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.673-265G>A |
single nucleotide variant |
not provided [RCV001678400] |
Chr5:90626946 [GRCh38] Chr5:89922763 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.8286+123G>A |
single nucleotide variant |
not provided [RCV001678425] |
Chr5:90703918 [GRCh38] Chr5:89999735 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12286-109G>C |
single nucleotide variant |
not provided [RCV001674427] |
Chr5:90774077 [GRCh38] Chr5:90069894 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.454-182C>A |
single nucleotide variant |
not provided [RCV001638514] |
Chr5:90622415 [GRCh38] Chr5:89918232 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.13082+126T>G |
single nucleotide variant |
not provided [RCV001608218] |
Chr5:90779223 [GRCh38] Chr5:90075040 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.961G>T (p.Asp321Tyr) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154895] |
Chr5:90627499 [GRCh38] Chr5:89923316 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1252A>G (p.Thr418Ala) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154899] |
Chr5:90628575 [GRCh38] Chr5:89924392 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2539G>A (p.Asp847Asn) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155010] |
Chr5:90643027 [GRCh38] Chr5:89938844 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10362A>G (p.Thr3454=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155641] |
Chr5:90728869 [GRCh38] Chr5:90024686 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12291G>A (p.Glu4097=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155717]|not provided [RCV002070915] |
Chr5:90774191 [GRCh38] Chr5:90070008 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12425G>A (p.Arg4142Gln) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155722] |
Chr5:90776474 [GRCh38] Chr5:90072291 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3996A>G (p.Gly1332=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156783]|not provided [RCV001489810] |
Chr5:90653570 [GRCh38] Chr5:89949387 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.4118C>T (p.Ala1373Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156785]|not provided [RCV002032447] |
Chr5:90653692 [GRCh38] Chr5:89949509 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.5657C>G (p.Thr1886Arg) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156881]|not provided [RCV001230332] |
Chr5:90681447 [GRCh38] Chr5:89977264 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6491-10G>A |
single nucleotide variant |
Usher syndrome type 2C [RCV001156985] |
Chr5:90689851 [GRCh38] Chr5:89985668 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6705T>G (p.Phe2235Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002557338]|Usher syndrome type 2C [RCV001156990]|Usher syndrome type 2C [RCV002505735] |
Chr5:90690075 [GRCh38] Chr5:89985892 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13838A>G (p.His4613Arg) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155816] |
Chr5:90788255 [GRCh38] Chr5:90084072 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13868C>T (p.Ser4623Phe) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155817] |
Chr5:90788285 [GRCh38] Chr5:90084102 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7866C>T (p.Val2622=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157103]|not provided [RCV001480263] |
Chr5:90694622 [GRCh38] Chr5:89990439 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.9314G>A (p.Arg3105Gln) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157218]|not provided [RCV001247614] |
Chr5:90716596 [GRCh38] Chr5:90012413 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15583C>T (p.Leu5195Phe) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155928] |
Chr5:90810843 [GRCh38] Chr5:90106660 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17595-4C>T |
single nucleotide variant |
Usher syndrome type 2C [RCV001156034]|not provided [RCV001484453] |
Chr5:90855737 [GRCh38] Chr5:90151554 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.8291C>G (p.Ser2764Trp) |
single nucleotide variant |
not provided [RCV001210884] |
Chr5:90704393 [GRCh38] Chr5:90000210 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.5522G>A (p.Arg1841His) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156878]|not provided [RCV001859020] |
Chr5:90679627 [GRCh38] Chr5:89975444 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5739C>T (p.Leu1913=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156884]|not provided [RCV001419125] |
Chr5:90683660 [GRCh38] Chr5:89979477 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.1419T>G (p.Asp473Glu) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156565]|not provided [RCV001362344] |
Chr5:90628742 [GRCh38] Chr5:89924559 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.7893T>C (p.Ala2631=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157108] |
Chr5:90694649 [GRCh38] Chr5:89990466 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9182T>G (p.Ile3061Arg) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157215] |
Chr5:90712426 [GRCh38] Chr5:90008243 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9624-4T>A |
single nucleotide variant |
Usher syndrome type 2C [RCV001151755] |
Chr5:90720931 [GRCh38] Chr5:90016748 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2833G>T (p.Gly945Trp) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156669] |
Chr5:90644804 [GRCh38] Chr5:89940621 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11457A>G (p.Gln3819=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151865]|not provided [RCV001417308] |
Chr5:90755062 [GRCh38] Chr5:90050879 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13232-1G>A |
single nucleotide variant |
Usher syndrome type 2C [RCV001002725]|Usher syndrome type 2C [RCV002489510] |
Chr5:90783123 [GRCh38] Chr5:90078940 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.6062T>C (p.Met2021Thr) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154484] |
Chr5:90683983 [GRCh38] Chr5:89979800 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8155+1G>A |
single nucleotide variant |
not provided [RCV001070438] |
Chr5:90697147 [GRCh38] Chr5:89992964 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1707A>C (p.Gln569His) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152885] |
Chr5:90629407 [GRCh38] Chr5:89925224 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10267A>G (p.Ile3423Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152998]|not provided [RCV001370729] |
Chr5:90728774 [GRCh38] Chr5:90024591 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15497C>T (p.Thr5166Met) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153324]|not provided [RCV001232767] |
Chr5:90810757 [GRCh38] Chr5:90106574 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.4556G>A (p.Gly1519Glu) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151341] |
Chr5:90658082 [GRCh38] Chr5:89953899 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5173A>G (p.Ser1725Gly) |
single nucleotide variant |
not provided [RCV001062610] |
Chr5:90675305 [GRCh38] Chr5:89971122 [GRCh37] Chr5:5q14.3 |
uncertain significance |
GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3 |
copy number gain |
See cases [RCV001007415] |
Chr5:87792844..109221844 [GRCh37] Chr5:5q14.3-21.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.10053+9A>G |
single nucleotide variant |
Usher syndrome type 2C [RCV001152994] |
Chr5:90725241 [GRCh38] Chr5:90021058 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18668A>C (p.Gln6223Pro) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153543] |
Chr5:91153264 [GRCh38] Chr5:90449081 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9992A>G (p.Asn3331Ser) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152992] |
Chr5:90725171 [GRCh38] Chr5:90020988 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13305T>G (p.Asp4435Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003163339]|Usher syndrome type 2C [RCV001153218] |
Chr5:90783197 [GRCh38] Chr5:90079014 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.709A>C (p.Lys237Gln) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154054] |
Chr5:90627247 [GRCh38] Chr5:89923064 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2409G>T (p.Gly803=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155008]|not provided [RCV001434402] |
Chr5:90642897 [GRCh38] Chr5:89938714 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.2590G>A (p.Gly864Arg) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155012]|not provided [RCV002032428] |
Chr5:90643839 [GRCh38] Chr5:89939656 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.17033G>C (p.Gly5678Ala) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153443]|not provided [RCV001562274] |
Chr5:90848650 [GRCh38] Chr5:90144467 [GRCh37] Chr5:5q14.3 |
benign|likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.17188G>T (p.Gly5730Cys) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153446] |
Chr5:90848805 [GRCh38] Chr5:90144622 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4770A>G (p.Ser1590=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154376]|not provided [RCV002070890] |
Chr5:90672563 [GRCh38] Chr5:89968380 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.4930-13T>C |
single nucleotide variant |
Usher syndrome type 2C [RCV001154380] |
Chr5:90674041 [GRCh38] Chr5:89969858 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4977G>A (p.Glu1659=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154383] |
Chr5:90674101 [GRCh38] Chr5:89969918 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17075A>G (p.Tyr5692Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002558329]|Usher syndrome type 2C [RCV001153444]|not provided [RCV001203379] |
Chr5:90848692 [GRCh38] Chr5:90144509 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.17204+12T>C |
single nucleotide variant |
Usher syndrome type 2C [RCV001153448] |
Chr5:90848833 [GRCh38] Chr5:90144650 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7464G>C (p.Arg2488Ser) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155419] |
Chr5:90694220 [GRCh38] Chr5:89990037 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7702G>A (p.Val2568Ile) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155425] |
Chr5:90694458 [GRCh38] Chr5:89990275 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18367G>A (p.Gly6123Arg) |
single nucleotide variant |
not provided [RCV001060768] |
Chr5:91102275 [GRCh38] Chr5:90398092 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5408C>A (p.Ser1803Tyr) |
single nucleotide variant |
not provided [RCV001063737] |
Chr5:90676174 [GRCh38] Chr5:89971991 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.940G>A (p.Ala314Thr) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154894]|not provided [RCV001760111]|not specified [RCV003235481] |
Chr5:90627478 [GRCh38] Chr5:89923295 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.12356C>T (p.Thr4119Ile) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155721] |
Chr5:90774256 [GRCh38] Chr5:90070073 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2330A>C (p.Glu777Ala) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154175]|not provided [RCV001230089] |
Chr5:90642725 [GRCh38] Chr5:89938542 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6376A>G (p.Ile2126Val) |
single nucleotide variant |
not provided [RCV001228899] |
Chr5:90685881 [GRCh38] Chr5:89981698 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.686A>G (p.Asp229Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002557311]|Usher syndrome type 2C [RCV001154053]|not provided [RCV001301953] |
Chr5:90627224 [GRCh38] Chr5:89923041 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.2790G>A (p.Trp930Ter) |
single nucleotide variant |
not provided [RCV001092759] |
Chr5:90644761 [GRCh38] Chr5:89940578 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.*101T>C |
single nucleotide variant |
Usher syndrome type 2C [RCV001156169] |
Chr5:91164001 [GRCh38] Chr5:90459818 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.*259A>G |
single nucleotide variant |
Usher syndrome type 2C [RCV001156172]|not provided [RCV001615126] |
Chr5:91164159 [GRCh38] Chr5:90459976 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.8386+12T>C |
single nucleotide variant |
Usher syndrome type 2C [RCV001154699] |
Chr5:90704500 [GRCh38] Chr5:90000317 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.2241-193T>C |
single nucleotide variant |
not provided [RCV001707116] |
Chr5:90642443 [GRCh38] Chr5:89938260 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.8287-252T>C |
single nucleotide variant |
not provided [RCV001614208] |
Chr5:90704137 [GRCh38] Chr5:89999954 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.11725C>A (p.Pro3909Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003160549]|not provided [RCV001066676] |
Chr5:90756598 [GRCh38] Chr5:90052415 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6326T>C (p.Ile2109Thr) |
single nucleotide variant |
not provided [RCV001066837] |
Chr5:90685831 [GRCh38] Chr5:89981648 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.12285+422T>A |
single nucleotide variant |
not provided [RCV001665626] |
Chr5:90763891 [GRCh38] Chr5:90059708 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.558+114A>C |
single nucleotide variant |
not provided [RCV001644232] |
Chr5:90622815 [GRCh38] Chr5:89918632 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.6490+167dup |
duplication |
not provided [RCV001725788] |
Chr5:90686153..90686154 [GRCh38] Chr5:89981970..89981971 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.9214G>A (p.Gly3072Ser) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001581095] |
Chr5:90716496 [GRCh38] Chr5:90012313 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.5444-296C>T |
single nucleotide variant |
not provided [RCV001650642] |
Chr5:90679253 [GRCh38] Chr5:89975070 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.5444-24G>T |
single nucleotide variant |
not provided [RCV001590277] |
Chr5:90679525 [GRCh38] Chr5:89975342 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1840-46A>G |
single nucleotide variant |
not provided [RCV001567891] |
Chr5:90635068 [GRCh38] Chr5:89930885 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10975-322T>C |
single nucleotide variant |
not provided [RCV001584918] |
Chr5:90750229 [GRCh38] Chr5:90046046 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16677T>C (p.Phe5559=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152166] |
Chr5:90840643 [GRCh38] Chr5:90136460 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10549+183A>C |
single nucleotide variant |
not provided [RCV001679803] |
Chr5:90729947 [GRCh38] Chr5:90025764 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.6962_6963del (p.Val2321fs) |
deletion |
Usher syndrome type 2C [RCV001002709] |
Chr5:90692614..90692615 [GRCh38] Chr5:89988431..89988432 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.5444-283_5444-281del |
deletion |
not provided [RCV001678646] |
Chr5:90679262..90679264 [GRCh38] Chr5:89975079..89975081 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.17594+73G>A |
single nucleotide variant |
not provided [RCV001583052] |
Chr5:90854274 [GRCh38] Chr5:90150091 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4753-292C>T |
single nucleotide variant |
not provided [RCV001587573] |
Chr5:90672254 [GRCh38] Chr5:89968071 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9042+5G>A |
single nucleotide variant |
not provided [RCV001589534] |
Chr5:90711327 [GRCh38] Chr5:90007144 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17973+73A>G |
single nucleotide variant |
not provided [RCV001696088] |
Chr5:90965604 [GRCh38] Chr5:90261421 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.15094_15098del (p.Gly5032fs) |
deletion |
not provided [RCV001062917] |
Chr5:90810352..90810356 [GRCh38] Chr5:90106169..90106173 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.715G>A (p.Val239Ile) |
single nucleotide variant |
not provided [RCV001067565] |
Chr5:90627253 [GRCh38] Chr5:89923070 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3416+148G>A |
single nucleotide variant |
not provided [RCV001665866] |
Chr5:90651878 [GRCh38] Chr5:89947695 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12404-59C>T |
single nucleotide variant |
not provided [RCV001681978] |
Chr5:90776394 [GRCh38] Chr5:90072211 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.9748+302G>A |
single nucleotide variant |
not provided [RCV001710763] |
Chr5:90721361 [GRCh38] Chr5:90017178 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.16079-81T>A |
single nucleotide variant |
not provided [RCV001713234] |
Chr5:90815538 [GRCh38] Chr5:90111355 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12666+91TG[7] |
microsatellite |
not provided [RCV001651434] |
Chr5:90778133..90778134 [GRCh38] Chr5:90073950..90073951 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.1238+142AC[25] |
microsatellite |
not provided [RCV001665929] |
Chr5:90627917..90627918 [GRCh38] Chr5:89923734..89923735 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.16611+26A>G |
single nucleotide variant |
not provided [RCV001583252] |
Chr5:90829212 [GRCh38] Chr5:90125029 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3289+110C>T |
single nucleotide variant |
not provided [RCV001690102] |
Chr5:90647874 [GRCh38] Chr5:89943691 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12121-30G>T |
single nucleotide variant |
not provided [RCV001651369] |
Chr5:90763275 [GRCh38] Chr5:90059092 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.14662-47G>A |
single nucleotide variant |
not provided [RCV001587792] |
Chr5:90805237 [GRCh38] Chr5:90101054 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3417-164T>C |
single nucleotide variant |
not provided [RCV001725787] |
Chr5:90652182 [GRCh38] Chr5:89947999 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12121-32_12121-31dup |
duplication |
not provided [RCV001643884] |
Chr5:90763263..90763264 [GRCh38] Chr5:90059080..90059081 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.14044-98T>A |
single nucleotide variant |
not provided [RCV001616207] |
Chr5:90790775 [GRCh38] Chr5:90086592 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.6275-182ATAA[8] |
microsatellite |
not provided [RCV001685311] |
Chr5:90685598..90685609 [GRCh38] Chr5:89981415..89981426 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12120+227A>G |
single nucleotide variant |
not provided [RCV001692585] |
Chr5:90759815 [GRCh38] Chr5:90055632 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.11377+174C>T |
single nucleotide variant |
not provided [RCV001649225] |
Chr5:90754003 [GRCh38] Chr5:90049820 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.14044-90del |
deletion |
not provided [RCV001667271] |
Chr5:90790774 [GRCh38] Chr5:90086591 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.18311-307A>G |
single nucleotide variant |
not provided [RCV001691623] |
Chr5:91101912 [GRCh38] Chr5:90397729 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.7134-212A>G |
single nucleotide variant |
not provided [RCV001589932] |
Chr5:90693678 [GRCh38] Chr5:89989495 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2240+309G>A |
single nucleotide variant |
not provided [RCV001611636] |
Chr5:90638257 [GRCh38] Chr5:89934074 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.10426+52C>G |
single nucleotide variant |
not provided [RCV001649355] |
Chr5:90728985 [GRCh38] Chr5:90024802 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.6951+274AT[5] |
microsatellite |
not provided [RCV001666240] |
Chr5:90691315..90691316 [GRCh38] Chr5:89987132..89987133 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.8730+82A>G |
single nucleotide variant |
not provided [RCV001714352] |
Chr5:90706476 [GRCh38] Chr5:90002293 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.17454+155A>G |
single nucleotide variant |
not provided [RCV001545356] |
Chr5:90853688 [GRCh38] Chr5:90149505 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9748+261T>C |
single nucleotide variant |
not provided [RCV001690539] |
Chr5:90721320 [GRCh38] Chr5:90017137 [GRCh37] Chr5:5q14.3 |
benign |
NC_000005.10:g.90558610C>T |
single nucleotide variant |
not provided [RCV001572603] |
Chr5:90558610 [GRCh38] Chr5:89854427 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16196+316T>C |
single nucleotide variant |
not provided [RCV001565896] |
Chr5:90816052 [GRCh38] Chr5:90111869 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16197-257A>G |
single nucleotide variant |
not provided [RCV001648619] |
Chr5:90823168 [GRCh38] Chr5:90118985 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.9749-261G>A |
single nucleotide variant |
not provided [RCV001668839] |
Chr5:90724571 [GRCh38] Chr5:90020388 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.17857-134G>C |
single nucleotide variant |
not provided [RCV001590115] |
Chr5:90965281 [GRCh38] Chr5:90261098 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6951+195A>G |
single nucleotide variant |
not provided [RCV001681471] |
Chr5:90691236 [GRCh38] Chr5:89987053 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.17856+230dup |
duplication |
not provided [RCV001546939] |
Chr5:90864076..90864077 [GRCh38] Chr5:90159893..90159894 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1906A>G (p.Ile636Val) |
single nucleotide variant |
not provided [RCV001057791] |
Chr5:90635180 [GRCh38] Chr5:89930997 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4378+319G>T |
single nucleotide variant |
not provided [RCV001539745] |
Chr5:90654271 [GRCh38] Chr5:89950088 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12121-31dup |
duplication |
not provided [RCV001539803] |
Chr5:90763263..90763264 [GRCh38] Chr5:90059080..90059081 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.5314-301C>T |
single nucleotide variant |
not provided [RCV001581520] |
Chr5:90675779 [GRCh38] Chr5:89971596 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12121-31del |
deletion |
not provided [RCV001681510] |
Chr5:90763264 [GRCh38] Chr5:90059081 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12404-168A>G |
single nucleotide variant |
not provided [RCV001586204] |
Chr5:90776285 [GRCh38] Chr5:90072102 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12285+150T>A |
single nucleotide variant |
not provided [RCV001613678] |
Chr5:90763619 [GRCh38] Chr5:90059436 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.23-93T>C |
single nucleotide variant |
not provided [RCV001547408] |
Chr5:90614742 [GRCh38] Chr5:89910559 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16612-301C>T |
single nucleotide variant |
not provided [RCV001540446] |
Chr5:90840277 [GRCh38] Chr5:90136094 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12121-142dup |
duplication |
not provided [RCV001645455] |
Chr5:90763155..90763156 [GRCh38] Chr5:90058972..90058973 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.16197-31G>A |
single nucleotide variant |
not provided [RCV001651609] |
Chr5:90823394 [GRCh38] Chr5:90119211 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.7210G>T (p.Gly2404Cys) |
single nucleotide variant |
not provided [RCV001059563] |
Chr5:90693966 [GRCh38] Chr5:89989783 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.16196+189C>T |
single nucleotide variant |
not provided [RCV001585158] |
Chr5:90815925 [GRCh38] Chr5:90111742 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10974+286G>A |
single nucleotide variant |
not provided [RCV001680622] |
Chr5:90746081 [GRCh38] Chr5:90041898 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.18802+146T>G |
single nucleotide variant |
not provided [RCV001585175] |
Chr5:91153544 [GRCh38] Chr5:90449361 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.558+120del |
deletion |
not provided [RCV001693032] |
Chr5:90622820 [GRCh38] Chr5:89918637 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.2554-140G>A |
single nucleotide variant |
not provided [RCV001668972] |
Chr5:90643663 [GRCh38] Chr5:89939480 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.8731-74_8731-70del |
microsatellite |
not provided [RCV001725614] |
Chr5:90708737..90708741 [GRCh38] Chr5:90004554..90004558 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.-67A>T |
single nucleotide variant |
Usher syndrome type 2C [RCV001158259]|not provided [RCV001541269] |
Chr5:90558829 [GRCh38] Chr5:89854646 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2502A>T (p.Gly834=) |
single nucleotide variant |
not provided [RCV001231323] |
Chr5:90642990 [GRCh38] Chr5:89938807 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13448C>G (p.Pro4483Arg) |
single nucleotide variant |
not provided [RCV001236642] |
Chr5:90783852 [GRCh38] Chr5:90079669 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3928A>C (p.Thr1310Pro) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155121]|not provided [RCV001039477] |
Chr5:90653502 [GRCh38] Chr5:89949319 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6957C>G (p.Ile2319Met) |
single nucleotide variant |
not provided [RCV001204741] |
Chr5:90692610 [GRCh38] Chr5:89988427 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3127G>A (p.Gly1043Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003353205]|not provided [RCV001204760] |
Chr5:90647602 [GRCh38] Chr5:89943419 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10924A>G (p.Ile3642Val) |
single nucleotide variant |
not provided [RCV001247301] |
Chr5:90745745 [GRCh38] Chr5:90041562 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12497C>G (p.Ser4166Ter) |
single nucleotide variant |
Retinal dystrophy [RCV001073722]|not provided [RCV001862517] |
Chr5:90776546 [GRCh38] Chr5:90072363 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.15285T>C (p.Thr5095=) |
single nucleotide variant |
not provided [RCV001452260]|not specified [RCV001001119] |
Chr5:90810545 [GRCh38] Chr5:90106362 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1381G>T (p.Gly461Trp) |
single nucleotide variant |
not provided [RCV001205019] |
Chr5:90628704 [GRCh38] Chr5:89924521 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11687T>A (p.Met3896Lys) |
single nucleotide variant |
not provided [RCV001217625] |
Chr5:90756560 [GRCh38] Chr5:90052377 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14207C>T (p.Ser4736Phe) |
single nucleotide variant |
not provided [RCV001234800] |
Chr5:90791036 [GRCh38] Chr5:90086853 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11524del (p.Thr3841_Ile3842insTer) |
deletion |
not provided [RCV001234907] |
Chr5:90755128 [GRCh38] Chr5:90050945 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.2241-2A>G |
single nucleotide variant |
Usher syndrome type 2 [RCV001199636] |
Chr5:90642634 [GRCh38] Chr5:89938451 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.17909G>C (p.Cys5970Ser) |
single nucleotide variant |
not provided [RCV001235822] |
Chr5:90965467 [GRCh38] Chr5:90261284 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17896G>A (p.Ala5966Thr) |
single nucleotide variant |
not provided [RCV001207559] |
Chr5:90965454 [GRCh38] Chr5:90261271 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.8749G>T (p.Glu2917Ter) |
single nucleotide variant |
Retinal dystrophy [RCV001074207] |
Chr5:90708834 [GRCh38] Chr5:90004651 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.10940del (p.Asn3647fs) |
deletion |
Retinal dystrophy [RCV001074287] |
Chr5:90745760 [GRCh38] Chr5:90041577 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.7519A>G (p.Thr2507Ala) |
single nucleotide variant |
Retinal dystrophy [RCV001074289]|Usher syndrome type 2C [RCV001334323]|not provided [RCV001862549] |
Chr5:90694275 [GRCh38] Chr5:89990092 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.4880T>C (p.Phe1627Ser) |
single nucleotide variant |
Retinal dystrophy [RCV001074290]|not provided [RCV001862550] |
Chr5:90672673 [GRCh38] Chr5:89968490 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.1471A>G (p.Thr491Ala) |
single nucleotide variant |
not provided [RCV001048865] |
Chr5:90628794 [GRCh38] Chr5:89924611 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.1015G>C (p.Glu339Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003365274]|not provided [RCV001232286] |
Chr5:90627553 [GRCh38] Chr5:89923370 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.18710C>T (p.Thr6237Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002563220]|Usher syndrome type 2C [RCV002491746]|not provided [RCV001232287] |
Chr5:91153306 [GRCh38] Chr5:90449123 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.9763G>A (p.Val3255Met) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151756]|not provided [RCV002032399] |
Chr5:90724846 [GRCh38] Chr5:90020663 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6939G>A (p.Pro2313=) |
single nucleotide variant |
not provided [RCV001237191] |
Chr5:90691029 [GRCh38] Chr5:89986846 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.16436del (p.Asn5479fs) |
deletion |
Retinal dystrophy [RCV001074947]|Usher syndrome [RCV003155357]|not provided [RCV001233374] |
Chr5:90829010 [GRCh38] Chr5:90124827 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.11484_11487del (p.Asn3828fs) |
deletion |
Retinal dystrophy [RCV001074948] |
Chr5:90755087..90755090 [GRCh38] Chr5:90050904..90050907 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.14837-8T>C |
single nucleotide variant |
Retinal dystrophy [RCV001074949]|not provided [RCV001452217] |
Chr5:90807594 [GRCh38] Chr5:90103411 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3899T>C (p.Ile1300Thr) |
single nucleotide variant |
not provided [RCV001049384] |
Chr5:90653473 [GRCh38] Chr5:89949290 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17017A>C (p.Lys5673Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003293907]|Usher syndrome type 2C [RCV001152171]|not provided [RCV001224459] |
Chr5:90840983 [GRCh38] Chr5:90136800 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18516T>C (p.Asn6172=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001152269]|not provided [RCV001172161] |
Chr5:91150113 [GRCh38] Chr5:90445930 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13622dup (p.Arg4542fs) |
duplication |
not provided [RCV001230320] |
Chr5:90784025..90784026 [GRCh38] Chr5:90079842..90079843 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.10475C>T (p.Ser3492Phe) |
single nucleotide variant |
not provided [RCV001236881] |
Chr5:90729690 [GRCh38] Chr5:90025507 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.7177G>A (p.Asp2393Asn) |
single nucleotide variant |
not provided [RCV001069645] |
Chr5:90693933 [GRCh38] Chr5:89989750 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9907-1G>A |
single nucleotide variant |
Retinal dystrophy [RCV001075697]|Usher syndrome type 2C [RCV002505667]|not provided [RCV001572562] |
Chr5:90725085 [GRCh38] Chr5:90020902 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.5776C>T (p.Gln1926Ter) |
single nucleotide variant |
not provided [RCV001041388] |
Chr5:90683697 [GRCh38] Chr5:89979514 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.13172T>C (p.Met4391Thr) |
single nucleotide variant |
not provided [RCV001041545] |
Chr5:90781519 [GRCh38] Chr5:90077336 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14060G>T (p.Ser4687Ile) |
single nucleotide variant |
not provided [RCV001041688] |
Chr5:90790889 [GRCh38] Chr5:90086706 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6553G>A (p.Val2185Met) |
single nucleotide variant |
not provided [RCV001049779] |
Chr5:90689923 [GRCh38] Chr5:89985740 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.9189A>C (p.Leu3063Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002561082]|not provided [RCV001201611] |
Chr5:90716471 [GRCh38] Chr5:90012288 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15010G>A (p.Val5004Ile) |
single nucleotide variant |
not provided [RCV001070599] |
Chr5:90810270 [GRCh38] Chr5:90106087 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13199T>C (p.Ile4400Thr) |
single nucleotide variant |
not provided [RCV001230068] |
Chr5:90781546 [GRCh38] Chr5:90077363 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16368+3A>C |
single nucleotide variant |
not provided [RCV001206589] |
Chr5:90823599 [GRCh38] Chr5:90119416 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1978A>G (p.Ile660Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002553090]|not provided [RCV001042783] |
Chr5:90635252 [GRCh38] Chr5:89931069 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.18169G>A (p.Val6057Ile) |
single nucleotide variant |
not provided [RCV001051093] |
Chr5:91072463 [GRCh38] Chr5:90368280 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6490+9_6491-1810del |
deletion |
not provided [RCV001051094] |
Chr5:90686001..90688048 [GRCh38] Chr5:89981818..89983865 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15973C>A (p.Gln5325Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003246753]|not provided [RCV001205301] |
Chr5:90811233 [GRCh38] Chr5:90107050 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.11772del (p.Ile3925fs) |
deletion |
Usher syndrome type 2A [RCV001199956] |
Chr5:90756992 [GRCh38] Chr5:90052809 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1626A>T (p.Thr542=) |
single nucleotide variant |
Usher syndrome type 2A [RCV001199958] |
Chr5:90629326 [GRCh38] Chr5:89925143 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1684G>T (p.Ala562Ser) |
single nucleotide variant |
not provided [RCV001359171]|not specified [RCV001000689] |
Chr5:90629384 [GRCh38] Chr5:89925201 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6673A>G (p.Ile2225Val) |
single nucleotide variant |
not provided [RCV001217772] |
Chr5:90690043 [GRCh38] Chr5:89985860 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9313C>T (p.Arg3105Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003163581]|not provided [RCV001208651] |
Chr5:90716595 [GRCh38] Chr5:90012412 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7846A>C (p.Ser2616Arg) |
single nucleotide variant |
not provided [RCV001043178] |
Chr5:90694602 [GRCh38] Chr5:89990419 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12125del (p.Met4042fs) |
deletion |
Usher syndrome type 2 [RCV001002858] |
Chr5:90763309 [GRCh38] Chr5:90059126 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.15494del (p.Lys5165fs) |
deletion |
Usher syndrome type 2 [RCV001002860] |
Chr5:90810753 [GRCh38] Chr5:90106570 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.6313A>G (p.Ile2105Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003259127]|Usher syndrome type 2C [RCV001155313]|not provided [RCV001300881] |
Chr5:90685818 [GRCh38] Chr5:89981635 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.8778C>T (p.Tyr2926=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155530]|not provided [RCV001497579] |
Chr5:90708863 [GRCh38] Chr5:90004680 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.10476_10479del (p.Phe3493fs) |
microsatellite |
not provided [RCV001034769] |
Chr5:90729687..90729690 [GRCh38] Chr5:90025504..90025507 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.15560C>T (p.Ala5187Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155927]|not provided [RCV002558352] |
Chr5:90810820 [GRCh38] Chr5:90106637 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6017G>A (p.Gly2006Asp) |
single nucleotide variant |
Usher syndrome type 2C [RCV001334321]|not provided [RCV001213052] |
Chr5:90683938 [GRCh38] Chr5:89979755 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3133G>C (p.Ala1045Pro) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151208]|not provided [RCV001314829] |
Chr5:90647608 [GRCh38] Chr5:89943425 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4868T>G (p.Leu1623Arg) |
single nucleotide variant |
not provided [RCV001220426] |
Chr5:90672661 [GRCh38] Chr5:89968478 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.7753A>G (p.Ile2585Val) |
single nucleotide variant |
not provided [RCV001044091] |
Chr5:90694509 [GRCh38] Chr5:89990326 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.*124C>T |
single nucleotide variant |
Usher syndrome type 2C [RCV001156170] |
Chr5:91164024 [GRCh38] Chr5:90459841 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9579C>A (p.Asn3193Lys) |
single nucleotide variant |
not provided [RCV001234252] |
Chr5:90720179 [GRCh38] Chr5:90015996 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11887G>A (p.Gly3963Ser) |
single nucleotide variant |
not provided [RCV001044685] |
Chr5:90757108 [GRCh38] Chr5:90052925 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12335T>G (p.Leu4112Trp) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155718]|Usher syndrome type 2C [RCV002505575]|not provided [RCV001044689]|not specified [RCV001797816] |
Chr5:90774235 [GRCh38] Chr5:90070052 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13550T>C (p.Ile4517Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003160329]|Usher syndrome type 2C [RCV001153221]|not provided [RCV001044703] |
Chr5:90783954 [GRCh38] Chr5:90079771 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.8091C>T (p.Ala2697=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151658]|not provided [RCV001510651]|not specified [RCV001195318] |
Chr5:90697082 [GRCh38] Chr5:89992899 [GRCh37] Chr5:5q14.3 |
benign|likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.1578G>T (p.Gln526His) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156568]|not provided [RCV002557336] |
Chr5:90629278 [GRCh38] Chr5:89925095 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1678A>G (p.Ile560Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156570] |
Chr5:90629378 [GRCh38] Chr5:89925195 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3129G>A (p.Gly1043=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156673] |
Chr5:90647604 [GRCh38] Chr5:89943421 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1477C>G (p.Arg493Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003365272]|not provided [RCV001230759] |
Chr5:90628800 [GRCh38] Chr5:89924617 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8156-4G>A |
single nucleotide variant |
Usher syndrome type 2C [RCV001151660] |
Chr5:90703661 [GRCh38] Chr5:89999478 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2104G>A (p.Val702Met) |
single nucleotide variant |
not provided [RCV001044822] |
Chr5:90637812 [GRCh38] Chr5:89933629 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14933del (p.Leu4977_Ser4978insTer) |
deletion |
not provided [RCV001045181] |
Chr5:90807698 [GRCh38] Chr5:90103515 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.6599C>G (p.Ser2200Cys) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156987] |
Chr5:90689969 [GRCh38] Chr5:89985786 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6772A>G (p.Ile2258Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156991] |
Chr5:90690862 [GRCh38] Chr5:89986679 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7754T>C (p.Ile2585Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002558370]|Usher syndrome type 2C [RCV001157101]|not provided [RCV001230365] |
Chr5:90694510 [GRCh38] Chr5:89990327 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12190C>G (p.Pro4064Ala) |
single nucleotide variant |
not provided [RCV001206312] |
Chr5:90763374 [GRCh38] Chr5:90059191 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5389A>G (p.Ile1797Val) |
single nucleotide variant |
not provided [RCV001203959] |
Chr5:90676155 [GRCh38] Chr5:89971972 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11248T>C (p.Ser3750Pro) |
single nucleotide variant |
not provided [RCV001037525] |
Chr5:90753700 [GRCh38] Chr5:90049517 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5041A>G (p.Ser1681Gly) |
single nucleotide variant |
not provided [RCV001045797] |
Chr5:90674165 [GRCh38] Chr5:89969982 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.125T>A (p.Val42Asp) |
single nucleotide variant |
not provided [RCV001205253] |
Chr5:90614937 [GRCh38] Chr5:89910754 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.11390C>T (p.Thr3797Ile) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157315]|not provided [RCV001320028] |
Chr5:90754995 [GRCh38] Chr5:90050812 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.12536G>A (p.Arg4179Gln) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157420]|not provided [RCV001360474] |
Chr5:90777913 [GRCh38] Chr5:90073730 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9865G>C (p.Val3289Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002563746]|not provided [RCV001230734] |
Chr5:90724948 [GRCh38] Chr5:90020765 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14693T>C (p.Met4898Thr) |
single nucleotide variant |
not provided [RCV001208081] |
Chr5:90805315 [GRCh38] Chr5:90101132 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1300G>A (p.Val434Met) |
single nucleotide variant |
not provided [RCV001037860] |
Chr5:90628623 [GRCh38] Chr5:89924440 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.9068G>T (p.Arg3023Met) |
single nucleotide variant |
not provided [RCV001046116] |
Chr5:90712312 [GRCh38] Chr5:90008129 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17131C>A (p.His5711Asn) |
single nucleotide variant |
not provided [RCV001046261] |
Chr5:90848748 [GRCh38] Chr5:90144565 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.8459A>C (p.Asp2820Ala) |
single nucleotide variant |
not provided [RCV001046262] |
Chr5:90705472 [GRCh38] Chr5:90001289 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12343G>C (p.Asp4115His) |
single nucleotide variant |
not provided [RCV001046426] |
Chr5:90774243 [GRCh38] Chr5:90070060 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14319A>G (p.Ile4773Met) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157524]|not provided [RCV001366683] |
Chr5:90791148 [GRCh38] Chr5:90086965 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.18433-13T>C |
single nucleotide variant |
Usher syndrome type 2C [RCV001157760]|not provided [RCV002070944] |
Chr5:91150017 [GRCh38] Chr5:90445834 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.8156-3C>A |
single nucleotide variant |
not provided [RCV001236474] |
Chr5:90703662 [GRCh38] Chr5:89999479 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2045C>G (p.Thr682Ser) |
single nucleotide variant |
not provided [RCV001208172] |
Chr5:90637753 [GRCh38] Chr5:89933570 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2340T>C (p.Pro780=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154176]|not provided [RCV002557315] |
Chr5:90642735 [GRCh38] Chr5:89938552 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.11580G>A (p.Pro3860=) |
single nucleotide variant |
not provided [RCV001230792] |
Chr5:90755185 [GRCh38] Chr5:90051002 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12874A>G (p.Ser4292Gly) |
single nucleotide variant |
not provided [RCV001211335] |
Chr5:90778889 [GRCh38] Chr5:90074706 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NC_000005.10:g.(?_90394064)_(90811338_?)dup |
duplication |
not provided [RCV001033105] |
Chr5:89689881..90107155 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16066G>A (p.Val5356Ile) |
single nucleotide variant |
not provided [RCV001047187] |
Chr5:90811326 [GRCh38] Chr5:90107143 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4878C>T (p.Asp1626=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154378]|not provided [RCV002557317] |
Chr5:90672671 [GRCh38] Chr5:89968488 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.4952A>G (p.Asp1651Gly) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154382] |
Chr5:90674076 [GRCh38] Chr5:89969893 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.8488C>G (p.Leu2830Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003259126]|Usher syndrome type 2C [RCV001154701]|Usher syndrome type 2C [RCV002480558]|not provided [RCV001231714] |
Chr5:90705501 [GRCh38] Chr5:90001318 [GRCh37] Chr5:5q14.3 |
benign|likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.17888C>T (p.Pro5963Leu) |
single nucleotide variant |
not provided [RCV001067378] |
Chr5:90965446 [GRCh38] Chr5:90261263 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11760C>T (p.Gly3920=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153104]|not provided [RCV001477954] |
Chr5:90756981 [GRCh38] Chr5:90052798 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.11950A>G (p.Met3984Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153107] |
Chr5:90759418 [GRCh38] Chr5:90055235 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3804C>A (p.Asn1268Lys) |
single nucleotide variant |
not provided [RCV001035834] |
Chr5:90653378 [GRCh38] Chr5:89949195 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5665-10T>C |
single nucleotide variant |
not provided [RCV001211506] |
Chr5:90683576 [GRCh38] Chr5:89979393 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3969T>C (p.Ser1323=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155123] |
Chr5:90653543 [GRCh38] Chr5:89949360 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15394G>A (p.Gly5132Arg) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153319]|not provided [RCV002032412] |
Chr5:90810654 [GRCh38] Chr5:90106471 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15498G>A (p.Thr5166=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153325]|not provided [RCV002557303] |
Chr5:90810758 [GRCh38] Chr5:90106575 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.17024C>T (p.Thr5675Ile) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153442] |
Chr5:90848641 [GRCh38] Chr5:90144458 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11660G>C (p.Gly3887Ala) |
single nucleotide variant |
not provided [RCV001246505] |
Chr5:90756533 [GRCh38] Chr5:90052350 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14462T>C (p.Leu4821Pro) |
single nucleotide variant |
not provided [RCV001246506] |
Chr5:90791291 [GRCh38] Chr5:90087108 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17978_17979del (p.Val5993fs) |
microsatellite |
not provided [RCV001008517] |
Chr5:90985346..90985347 [GRCh38] Chr5:90281163..90281164 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.8769T>C (p.Asn2923=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155529]|not provided [RCV001451440] |
Chr5:90708854 [GRCh38] Chr5:90004671 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.10517G>A (p.Arg3506Lys) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155644] |
Chr5:90729732 [GRCh38] Chr5:90025549 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4148A>G (p.Tyr1383Cys) |
single nucleotide variant |
Usher syndrome type 2C [RCV001027716]|not specified [RCV001192972] |
Chr5:90653722 [GRCh38] Chr5:89949539 [GRCh37] Chr5:5q14.3 |
pathogenic|uncertain significance |
NM_032119.4(ADGRV1):c.13718C>T (p.Ala4573Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155814] |
Chr5:90788135 [GRCh38] Chr5:90083952 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15697A>G (p.Met5233Val) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155931]|not provided [RCV002032435] |
Chr5:90810957 [GRCh38] Chr5:90106774 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17460A>G (p.Leu5820=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156033] |
Chr5:90854067 [GRCh38] Chr5:90149884 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17667C>G (p.His5889Gln) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156035]|not provided [RCV001248704] |
Chr5:90855813 [GRCh38] Chr5:90151630 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14639_14640del (p.Val4879_Ser4880insTer) |
microsatellite |
Usher syndrome type 2A [RCV001199957] |
Chr5:90802857..90802858 [GRCh38] Chr5:90098674..90098675 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.18466C>T (p.His6156Tyr) |
single nucleotide variant |
not provided [RCV001070893] |
Chr5:91150063 [GRCh38] Chr5:90445880 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8226T>G (p.Ile2742Met) |
single nucleotide variant |
Retinal dystrophy [RCV001073285]|not provided [RCV001862799] |
Chr5:90703735 [GRCh38] Chr5:89999552 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7150C>G (p.Arg2384Gly) |
single nucleotide variant |
Retinal dystrophy [RCV001073286]|not provided [RCV001862492] |
Chr5:90693906 [GRCh38] Chr5:89989723 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2277T>A (p.Tyr759Ter) |
single nucleotide variant |
Retinal dystrophy [RCV001073400]|not provided [RCV001231169] |
Chr5:90642672 [GRCh38] Chr5:89938489 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.*17C>T |
single nucleotide variant |
Usher syndrome type 2C [RCV001156166]|not provided [RCV001558716] |
Chr5:91163917 [GRCh38] Chr5:90459734 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.*60A>G |
single nucleotide variant |
Usher syndrome type 2C [RCV001156168]|not provided [RCV001712861] |
Chr5:91163960 [GRCh38] Chr5:90459777 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.2039A>G (p.Asp680Gly) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154170]|not provided [RCV002557314]|not specified [RCV003155363] |
Chr5:90637747 [GRCh38] Chr5:89933564 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.3416+9A>G |
single nucleotide variant |
Usher syndrome type 2C [RCV001154288] |
Chr5:90651739 [GRCh38] Chr5:89947556 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6083C>T (p.Pro2028Leu) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154485]|not provided [RCV002032424] |
Chr5:90684004 [GRCh38] Chr5:89979821 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13681T>G (p.Ser4561Ala) |
single nucleotide variant |
Retinal dystrophy [RCV001073542] |
Chr5:90788098 [GRCh38] Chr5:90083915 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8155+3G>C |
single nucleotide variant |
Retinal dystrophy [RCV001073543] |
Chr5:90697149 [GRCh38] Chr5:89992966 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14623G>A (p.Ala4875Thr) |
single nucleotide variant |
Retinal dystrophy [RCV001073880] |
Chr5:90802844 [GRCh38] Chr5:90098661 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5110+4A>G |
single nucleotide variant |
Retinal dystrophy [RCV001073951] |
Chr5:90674238 [GRCh38] Chr5:89970055 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13772C>T (p.Thr4591Ile) |
single nucleotide variant |
Retinal dystrophy [RCV001073997]|not provided [RCV001306737]|not specified [RCV001195220] |
Chr5:90788189 [GRCh38] Chr5:90084006 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.18217G>A (p.Val6073Met) |
single nucleotide variant |
Retinal dystrophy [RCV001074000]|Usher syndrome type 2C [RCV001157756]|not provided [RCV001351121] |
Chr5:91072511 [GRCh38] Chr5:90368328 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.6469G>A (p.Val2157Met) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155318]|not provided [RCV001038542] |
Chr5:90685974 [GRCh38] Chr5:89981791 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3979G>A (p.Ala1327Thr) |
single nucleotide variant |
not provided [RCV001889001] |
Chr5:90653553 [GRCh38] Chr5:89949370 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7334A>G (p.Lys2445Arg) |
single nucleotide variant |
Usher syndrome type 2C [RCV001154588]|not provided [RCV002559487] |
Chr5:90694090 [GRCh38] Chr5:89989907 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10092A>G (p.Arg3364=) |
single nucleotide variant |
not provided [RCV001245775] |
Chr5:90725587 [GRCh38] Chr5:90021404 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10828C>T (p.Leu3610Phe) |
single nucleotide variant |
not provided [RCV001202328] |
Chr5:90745649 [GRCh38] Chr5:90041466 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16330A>G (p.Thr5444Ala) |
single nucleotide variant |
not provided [RCV001039485] |
Chr5:90823558 [GRCh38] Chr5:90119375 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9178dup (p.Thr3060fs) |
duplication |
not provided [RCV001232718] |
Chr5:90712421..90712422 [GRCh38] Chr5:90008238..90008239 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.6235C>T (p.Leu2079Phe) |
single nucleotide variant |
Usher syndrome type 2C [RCV001155311] |
Chr5:90684156 [GRCh38] Chr5:89979973 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15415G>C (p.Glu5139Gln) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV001839027]|Inborn genetic diseases [RCV003346268]|not provided [RCV001039795] |
Chr5:90810675 [GRCh38] Chr5:90106492 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14069T>G (p.Phe4690Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002551459]|not provided [RCV001039972] |
Chr5:90790898 [GRCh38] Chr5:90086715 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.5785G>A (p.Ala1929Thr) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151457]|not provided [RCV001312654] |
Chr5:90683706 [GRCh38] Chr5:89979523 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.17561C>T (p.Ser5854Phe) |
single nucleotide variant |
not provided [RCV001203938] |
Chr5:90854168 [GRCh38] Chr5:90149985 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12286-10T>C |
single nucleotide variant |
not provided [RCV001232358] |
Chr5:90774176 [GRCh38] Chr5:90069993 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.8963C>T (p.Pro2988Leu) |
single nucleotide variant |
not provided [RCV001063580]|not specified [RCV003117732] |
Chr5:90711243 [GRCh38] Chr5:90007060 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9906+1G>A |
single nucleotide variant |
Retinal dystrophy [RCV001074338] |
Chr5:90724990 [GRCh38] Chr5:90020807 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16940del (p.Val5647fs) |
deletion |
Retinal dystrophy [RCV001074803]|not provided [RCV001381662] |
Chr5:90840906 [GRCh38] Chr5:90136723 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.10088_10091del (p.Val3363fs) |
deletion |
Retinal dystrophy [RCV001075072]|not provided [RCV001862841] |
Chr5:90725580..90725583 [GRCh38] Chr5:90021397..90021400 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.4072T>C (p.Ser1358Pro) |
single nucleotide variant |
Retinal dystrophy [RCV001075074] |
Chr5:90653646 [GRCh38] Chr5:89949463 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10632A>C (p.Glu3544Asp) |
single nucleotide variant |
not provided [RCV001203259] |
Chr5:90745128 [GRCh38] Chr5:90040945 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.8068A>G (p.Thr2690Ala) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151657] |
Chr5:90697059 [GRCh38] Chr5:89992876 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.8169A>G (p.Gln2723=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001151662]|not provided [RCV001470469] |
Chr5:90703678 [GRCh38] Chr5:89999495 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12261G>T (p.Leu4087Phe) |
single nucleotide variant |
not provided [RCV001246764] |
Chr5:90763445 [GRCh38] Chr5:90059262 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6017G>T (p.Gly2006Val) |
single nucleotide variant |
Retinal dystrophy [RCV001075537]|Usher syndrome type 2C [RCV001154483]|not provided [RCV001303820] |
Chr5:90683938 [GRCh38] Chr5:89979755 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.2926G>A (p.Val976Ile) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156670]|not provided [RCV001341294] |
Chr5:90645995 [GRCh38] Chr5:89941812 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3022+9G>C |
single nucleotide variant |
Usher syndrome type 2C [RCV001156672] |
Chr5:90646100 [GRCh38] Chr5:89941917 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3993C>T (p.Thr1331=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156782]|not provided [RCV001412666] |
Chr5:90653567 [GRCh38] Chr5:89949384 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.5674C>T (p.His1892Tyr) |
single nucleotide variant |
Usher syndrome type 2C [RCV001156883] |
Chr5:90683595 [GRCh38] Chr5:89979412 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15476C>T (p.Thr5159Ile) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153322]|not provided [RCV001346186] |
Chr5:90810736 [GRCh38] Chr5:90106553 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15496A>T (p.Thr5166Ser) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153323] |
Chr5:90810756 [GRCh38] Chr5:90106573 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17455-6T>C |
single nucleotide variant |
Usher syndrome type 2C [RCV001153449]|not provided [RCV002070868] |
Chr5:90854056 [GRCh38] Chr5:90149873 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.18711G>A (p.Thr6237=) |
single nucleotide variant |
Usher syndrome type 2C [RCV001153544] |
Chr5:91153307 [GRCh38] Chr5:90449124 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.9448-14G>A |
single nucleotide variant |
Usher syndrome type 2C [RCV001157222]|not provided [RCV001459405] |
Chr5:90720034 [GRCh38] Chr5:90015851 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12479T>A (p.Ile4160Asn) |
single nucleotide variant |
Usher syndrome type 2C [RCV001157417]|not provided [RCV002558375] |
Chr5:90776528 [GRCh38] Chr5:90072345 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12281A>G (p.Asp4094Gly) |
single nucleotide variant |
not provided [RCV001229496] |
Chr5:90763465 [GRCh38] Chr5:90059282 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12895C>T (p.Arg4299Ter) |
single nucleotide variant |
not provided [RCV001092760] |
Chr5:90778910 [GRCh38] Chr5:90074727 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.14320C>T (p.Leu4774Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002557347]|Usher syndrome type 2C [RCV001157525]|Usher syndrome type 2C [RCV002483902]|not provided [RCV001316471] |
Chr5:90791149 [GRCh38] Chr5:90086966 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6925G>A (p.Ala2309Thr) |
single nucleotide variant |
not provided [RCV001442411]|not specified [RCV001195186] |
Chr5:90691015 [GRCh38] Chr5:89986832 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6578T>C (p.Ile2193Thr) |
single nucleotide variant |
not provided [RCV002561029]|not specified [RCV001195222] |
Chr5:90689948 [GRCh38] Chr5:89985765 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13450A>G (p.Ile4484Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002561839]|not provided [RCV001214187] |
Chr5:90783854 [GRCh38] Chr5:90079671 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.8287-1G>C |
single nucleotide variant |
Usher syndrome type 2C [RCV001154697]|not provided [RCV001240555] |
Chr5:90704388 [GRCh38] Chr5:90000205 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_032119.4(ADGRV1):c.17518del (p.Tyr5840fs) |
deletion |
Usher syndrome type 2C [RCV001251173] |
Chr5:90854125 [GRCh38] Chr5:90149942 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
GRCh37/hg19 5q14.3(chr5:90218695-91499978)x3 |
copy number gain |
not provided [RCV001259337] |
Chr5:90218695..91499978 [GRCh37] Chr5:5q14.3 |
uncertain significance |
GRCh37/hg19 5q14.3(chr5:90452865-90563755)x3 |
copy number gain |
not provided [RCV001259338] |
Chr5:90452865..90563755 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.335_336del (p.Phe112fs) |
deletion |
Seizure [RCV001255012] |
Chr5:90617929..90617930 [GRCh38] Chr5:89913746..89913747 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3772del (p.Leu1258fs) |
deletion |
Usher syndrome, type 2C [RCV001334320] |
Chr5:90653345 [GRCh38] Chr5:89949162 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.11586C>G (p.Asp3862Glu) |
single nucleotide variant |
not provided [RCV001348342] |
Chr5:90756459 [GRCh38] Chr5:90052276 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12557A>C (p.Glu4186Ala) |
single nucleotide variant |
Seizure [RCV001256130] |
Chr5:90777934 [GRCh38] Chr5:90073751 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11443C>T (p.His3815Tyr) |
single nucleotide variant |
not provided [RCV001303104] |
Chr5:90755048 [GRCh38] Chr5:90050865 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10935_10938del (p.Ser3646fs) |
deletion |
not provided [RCV001310513] |
Chr5:90745753..90745756 [GRCh38] Chr5:90041570..90041573 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.6856C>T (p.Arg2286Ter) |
single nucleotide variant |
not provided [RCV001268196] |
Chr5:90690946 [GRCh38] Chr5:89986763 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.2016+316del |
deletion |
not provided [RCV001536252] |
Chr5:90635593 [GRCh38] Chr5:89931410 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.4378G>A (p.Gly1460Ser) |
single nucleotide variant |
not provided [RCV001268195] |
Chr5:90653952 [GRCh38] Chr5:89949769 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.15508C>A (p.Leu5170Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003289288]|not provided [RCV001982613] |
Chr5:90810768 [GRCh38] Chr5:90106585 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18883_18886del (p.Glu6295fs) |
deletion |
not provided [RCV001268687] |
Chr5:91163862..91163865 [GRCh38] Chr5:90459679..90459682 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.6649G>T (p.Ala2217Ser) |
single nucleotide variant |
not provided [RCV001312859] |
Chr5:90690019 [GRCh38] Chr5:89985836 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.323C>G (p.Pro108Arg) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV002275343]|not provided [RCV001812487] |
Chr5:90617919 [GRCh38] Chr5:89913736 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2898+105G>T |
single nucleotide variant |
not provided [RCV001575616] |
Chr5:90644974 [GRCh38] Chr5:89940791 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8871G>T (p.Gly2957=) |
single nucleotide variant |
not provided [RCV001306656] |
Chr5:90711027 [GRCh38] Chr5:90006844 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6232C>G (p.Leu2078Val) |
single nucleotide variant |
not provided [RCV001315784] |
Chr5:90684153 [GRCh38] Chr5:89979970 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15929G>A (p.Arg5310His) |
single nucleotide variant |
not provided [RCV001307928] |
Chr5:90811189 [GRCh38] Chr5:90107006 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.10570C>A (p.Gln3524Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003169537]|not provided [RCV001327202] |
Chr5:90745066 [GRCh38] Chr5:90040883 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13433+9A>G |
single nucleotide variant |
Usher syndrome type 2C [RCV001330106]|not provided [RCV001327249] |
Chr5:90783334 [GRCh38] Chr5:90079151 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3212G>A (p.Ser1071Asn) |
single nucleotide variant |
not provided [RCV001297601] |
Chr5:90647687 [GRCh38] Chr5:89943504 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.18003G>A (p.Met6001Ile) |
single nucleotide variant |
not provided [RCV001308274] |
Chr5:90985373 [GRCh38] Chr5:90281190 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11158A>G (p.Thr3720Ala) |
single nucleotide variant |
not provided [RCV001298763] |
Chr5:90753610 [GRCh38] Chr5:90049427 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10271C>T (p.Ser3424Phe) |
single nucleotide variant |
not provided [RCV001339454] |
Chr5:90728778 [GRCh38] Chr5:90024595 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5521C>T (p.Arg1841Cys) |
single nucleotide variant |
Usher syndrome type 2C [RCV002272443]|not provided [RCV001298770] |
Chr5:90679626 [GRCh38] Chr5:89975443 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14557G>T (p.Val4853Leu) |
single nucleotide variant |
not provided [RCV001320068] |
Chr5:90802778 [GRCh38] Chr5:90098595 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5888T>A (p.Ile1963Asn) |
single nucleotide variant |
not provided [RCV001327450] |
Chr5:90683809 [GRCh38] Chr5:89979626 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10974G>C (p.Gln3658His) |
single nucleotide variant |
Usher syndrome type 2C [RCV001329464] |
Chr5:90745795 [GRCh38] Chr5:90041612 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14443G>A (p.Glu4815Lys) |
single nucleotide variant |
not provided [RCV001301874] |
Chr5:90791272 [GRCh38] Chr5:90087089 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3194T>A (p.Val1065Asp) |
single nucleotide variant |
not provided [RCV001342455] |
Chr5:90647669 [GRCh38] Chr5:89943486 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5882C>T (p.Ala1961Val) |
single nucleotide variant |
not provided [RCV001351302] |
Chr5:90683803 [GRCh38] Chr5:89979620 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9940G>A (p.Ala3314Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003263951]|not provided [RCV001319527] |
Chr5:90725119 [GRCh38] Chr5:90020936 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4636G>A (p.Val1546Ile) |
single nucleotide variant |
not provided [RCV001301008] |
Chr5:90658162 [GRCh38] Chr5:89953979 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.4772C>T (p.Thr1591Ile) |
single nucleotide variant |
not provided [RCV001342512] |
Chr5:90672565 [GRCh38] Chr5:89968382 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18026G>A (p.Arg6009Gln) |
single nucleotide variant |
not provided [RCV001339906] |
Chr5:90985396 [GRCh38] Chr5:90281213 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.11675G>A (p.Arg3892Gln) |
single nucleotide variant |
not provided [RCV001314419] |
Chr5:90756548 [GRCh38] Chr5:90052365 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.7705G>A (p.Val2569Ile) |
single nucleotide variant |
not provided [RCV001295911] |
Chr5:90694461 [GRCh38] Chr5:89990278 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.16949C>T (p.Thr5650Ile) |
single nucleotide variant |
not provided [RCV001320798] |
Chr5:90840915 [GRCh38] Chr5:90136732 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14747G>A (p.Gly4916Glu) |
single nucleotide variant |
not provided [RCV001302281] |
Chr5:90805369 [GRCh38] Chr5:90101186 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10725A>G (p.Ile3575Met) |
single nucleotide variant |
not provided [RCV001339288] |
Chr5:90745221 [GRCh38] Chr5:90041038 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3659A>G (p.Gln1220Arg) |
single nucleotide variant |
not provided [RCV001301403] |
Chr5:90653233 [GRCh38] Chr5:89949050 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15212A>G (p.Glu5071Gly) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV001291680] |
Chr5:90810472 [GRCh38] Chr5:90106289 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15415G>A (p.Glu5139Lys) |
single nucleotide variant |
not provided [RCV001307687] |
Chr5:90810675 [GRCh38] Chr5:90106492 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6983G>T (p.Gly2328Val) |
single nucleotide variant |
not provided [RCV001318164] |
Chr5:90692636 [GRCh38] Chr5:89988453 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11683G>A (p.Gly3895Arg) |
single nucleotide variant |
not provided [RCV001299830] |
Chr5:90756556 [GRCh38] Chr5:90052373 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7402T>C (p.Ser2468Pro) |
single nucleotide variant |
not provided [RCV001351189] |
Chr5:90694158 [GRCh38] Chr5:89989975 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.362C>T (p.Pro121Leu) |
single nucleotide variant |
Usher syndrome type 2C [RCV002493676]|not provided [RCV001320253] |
Chr5:90619090 [GRCh38] Chr5:89914907 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17204+5G>A |
single nucleotide variant |
not provided [RCV001318476] |
Chr5:90848826 [GRCh38] Chr5:90144643 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3959G>A (p.Arg1320His) |
single nucleotide variant |
not provided [RCV001304216] |
Chr5:90653533 [GRCh38] Chr5:89949350 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15622G>A (p.Ala5208Thr) |
single nucleotide variant |
not provided [RCV001308885] |
Chr5:90810882 [GRCh38] Chr5:90106699 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18110A>G (p.His6037Arg) |
single nucleotide variant |
not provided [RCV001299445] |
Chr5:90985480 [GRCh38] Chr5:90281297 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15302G>T (p.Gly5101Val) |
single nucleotide variant |
not provided [RCV001340691] |
Chr5:90810562 [GRCh38] Chr5:90106379 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4585G>T (p.Ala1529Ser) |
single nucleotide variant |
not provided [RCV001300173] |
Chr5:90658111 [GRCh38] Chr5:89953928 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.11032G>A (p.Val3678Ile) |
single nucleotide variant |
not provided [RCV001313315] |
Chr5:90750608 [GRCh38] Chr5:90046425 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.10066ATT[1] (p.Ile3357del) |
microsatellite |
not provided [RCV001294692] |
Chr5:90725561..90725563 [GRCh38] Chr5:90021378..90021380 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6521T>A (p.Val2174Glu) |
single nucleotide variant |
not provided [RCV001304228] |
Chr5:90689891 [GRCh38] Chr5:89985708 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.525G>C (p.Lys175Asn) |
single nucleotide variant |
not provided [RCV001304255] |
Chr5:90622668 [GRCh38] Chr5:89918485 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1108G>A (p.Asp370Asn) |
single nucleotide variant |
not provided [RCV001337222] |
Chr5:90627646 [GRCh38] Chr5:89923463 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3022+4G>A |
single nucleotide variant |
not provided [RCV001321594] |
Chr5:90646095 [GRCh38] Chr5:89941912 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10726T>C (p.Tyr3576His) |
single nucleotide variant |
not provided [RCV001307144] |
Chr5:90745222 [GRCh38] Chr5:90041039 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1793T>C (p.Ile598Thr) |
single nucleotide variant |
not provided [RCV001297645] |
Chr5:90629493 [GRCh38] Chr5:89925310 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10471T>C (p.Ser3491Pro) |
single nucleotide variant |
not provided [RCV001302326] |
Chr5:90729686 [GRCh38] Chr5:90025503 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13790A>G (p.Tyr4597Cys) |
single nucleotide variant |
not provided [RCV001324497] |
Chr5:90788207 [GRCh38] Chr5:90084024 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.10491G>T (p.Gln3497His) |
single nucleotide variant |
not provided [RCV001343694] |
Chr5:90729706 [GRCh38] Chr5:90025523 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.2483T>C (p.Val828Ala) |
single nucleotide variant |
Usher syndrome type 2C [RCV002486283]|not provided [RCV001321843] |
Chr5:90642971 [GRCh38] Chr5:89938788 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.16999A>T (p.Met5667Leu) |
single nucleotide variant |
not provided [RCV001300062] |
Chr5:90840965 [GRCh38] Chr5:90136782 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9427G>A (p.Glu3143Lys) |
single nucleotide variant |
not provided [RCV001302381] |
Chr5:90716709 [GRCh38] Chr5:90012526 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15539C>T (p.Thr5180Ile) |
single nucleotide variant |
not provided [RCV001303926] |
Chr5:90810799 [GRCh38] Chr5:90106616 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1497C>T (p.Ser499=) |
single nucleotide variant |
not provided [RCV001341275] |
Chr5:90628820 [GRCh38] Chr5:89924637 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.1727A>G (p.Asn576Ser) |
single nucleotide variant |
not provided [RCV001294919] |
Chr5:90629427 [GRCh38] Chr5:89925244 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17881G>A (p.Ala5961Thr) |
single nucleotide variant |
not provided [RCV001326247] |
Chr5:90965439 [GRCh38] Chr5:90261256 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9410A>C (p.Lys3137Thr) |
single nucleotide variant |
not provided [RCV001314327] |
Chr5:90716692 [GRCh38] Chr5:90012509 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11896G>A (p.Asp3966Asn) |
single nucleotide variant |
not provided [RCV001297069] |
Chr5:90757117 [GRCh38] Chr5:90052934 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7400C>T (p.Thr2467Ile) |
single nucleotide variant |
Usher syndrome type 2C [RCV001376295]|not provided [RCV001865895] |
Chr5:90694156 [GRCh38] Chr5:89989973 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2569T>C (p.Trp857Arg) |
single nucleotide variant |
not provided [RCV001373337] |
Chr5:90643818 [GRCh38] Chr5:89939635 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.18724G>A (p.Gly6242Arg) |
single nucleotide variant |
not provided [RCV001362424] |
Chr5:91153320 [GRCh38] Chr5:90449137 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7508A>T (p.Tyr2503Phe) |
single nucleotide variant |
not provided [RCV001362426] |
Chr5:90694264 [GRCh38] Chr5:89990081 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3081T>C (p.Asn1027=) |
single nucleotide variant |
not provided [RCV001415154] |
Chr5:90647556 [GRCh38] Chr5:89943373 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14367G>A (p.Arg4789=) |
single nucleotide variant |
not provided [RCV001423212] |
Chr5:90791196 [GRCh38] Chr5:90087013 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10593C>G (p.Cys3531Trp) |
single nucleotide variant |
not provided [RCV001352263] |
Chr5:90745089 [GRCh38] Chr5:90040906 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13625G>A (p.Arg4542Gln) |
single nucleotide variant |
not provided [RCV001352266] |
Chr5:90784029 [GRCh38] Chr5:90079846 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.8620C>G (p.Gln2874Glu) |
single nucleotide variant |
not provided [RCV001298648] |
Chr5:90706284 [GRCh38] Chr5:90002101 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5874T>C (p.Ser1958=) |
single nucleotide variant |
not provided [RCV001433052] |
Chr5:90683795 [GRCh38] Chr5:89979612 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10227C>T (p.Thr3409=) |
single nucleotide variant |
not provided [RCV001422265] |
Chr5:90728734 [GRCh38] Chr5:90024551 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6789_6790del (p.Leu2265fs) |
deletion |
not provided [RCV001382657] |
Chr5:90690879..90690880 [GRCh38] Chr5:89986696..89986697 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.3591T>G (p.Pro1197=) |
single nucleotide variant |
not provided [RCV001394660] |
Chr5:90652520 [GRCh38] Chr5:89948337 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10427-316G>C |
single nucleotide variant |
not provided [RCV001581502] |
Chr5:90729326 [GRCh38] Chr5:90025143 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3028C>T (p.Arg1010Cys) |
single nucleotide variant |
not provided [RCV001305316] |
Chr5:90647503 [GRCh38] Chr5:89943320 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17208C>A (p.Ser5736Arg) |
single nucleotide variant |
not provided [RCV001327038] |
Chr5:90853287 [GRCh38] Chr5:90149104 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7624C>G (p.Leu2542Val) |
single nucleotide variant |
not provided [RCV001352550] |
Chr5:90694380 [GRCh38] Chr5:89990197 [GRCh37] Chr5:5q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.1199T>C (p.Phe400Ser) |
single nucleotide variant |
not provided [RCV001307178] |
Chr5:90627737 [GRCh38] Chr5:89923554 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8852T>C (p.Ile2951Thr) |
single nucleotide variant |
not provided [RCV001372656] |
Chr5:90711008 [GRCh38] Chr5:90006825 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18512T>C (p.Met6171Thr) |
single nucleotide variant |
not provided [RCV001368102] |
Chr5:91150109 [GRCh38] Chr5:90445926 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6292C>T (p.Leu2098Phe) |
single nucleotide variant |
not provided [RCV001363412] |
Chr5:90685797 [GRCh38] Chr5:89981614 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6698G>T (p.Gly2233Val) |
single nucleotide variant |
not provided [RCV001363441] |
Chr5:90690068 [GRCh38] Chr5:89985885 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13668A>G (p.Thr4556=) |
single nucleotide variant |
not provided [RCV001356204]|not specified [RCV003331133] |
Chr5:90788085 [GRCh38] Chr5:90083902 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13485G>A (p.Ala4495=) |
single nucleotide variant |
not provided [RCV001395521] |
Chr5:90783889 [GRCh38] Chr5:90079706 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1517T>C (p.Phe506Ser) |
single nucleotide variant |
not provided [RCV001296156] |
Chr5:90629217 [GRCh38] Chr5:89925034 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4681G>A (p.Ala1561Thr) |
single nucleotide variant |
not provided [RCV001358959] |
Chr5:90658207 [GRCh38] Chr5:89954024 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.9749-2del |
deletion |
Febrile seizures, familial, 4 [RCV002246383]|Usher syndrome [RCV001420796]|not provided [RCV001865909] |
Chr5:90724830 [GRCh38] Chr5:90020647 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic|risk factor |
NM_032119.4(ADGRV1):c.1477C>T (p.Arg493Ter) |
single nucleotide variant |
Ear malformation [RCV001814311]|Hearing impairment [RCV001375205]|not provided [RCV001871968] |
Chr5:90628800 [GRCh38] Chr5:89924617 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.16368G>C (p.Lys5456Asn) |
single nucleotide variant |
Hearing impairment [RCV001375349] |
Chr5:90823596 [GRCh38] Chr5:90119413 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.9512T>C (p.Leu3171Ser) |
single nucleotide variant |
Hearing impairment [RCV001375350] |
Chr5:90720112 [GRCh38] Chr5:90015929 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1954A>G (p.Ile652Val) |
single nucleotide variant |
Hearing impairment [RCV001375431] |
Chr5:90635228 [GRCh38] Chr5:89931045 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1804G>A (p.Ala602Thr) |
single nucleotide variant |
not provided [RCV001414927] |
Chr5:90629504 [GRCh38] Chr5:89925321 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11377+8T>C |
single nucleotide variant |
not provided [RCV001422727] |
Chr5:90753837 [GRCh38] Chr5:90049654 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16515_16531del (p.Leu5506fs) |
deletion |
not provided [RCV001382856] |
Chr5:90829090..90829106 [GRCh38] Chr5:90124907..90124923 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16865A>G (p.Asp5622Gly) |
single nucleotide variant |
not provided [RCV001327490] |
Chr5:90840831 [GRCh38] Chr5:90136648 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12919G>A (p.Gly4307Arg) |
single nucleotide variant |
not provided [RCV001355252] |
Chr5:90778934 [GRCh38] Chr5:90074751 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.1750A>G (p.Ile584Val) |
single nucleotide variant |
not provided [RCV001316752] |
Chr5:90629450 [GRCh38] Chr5:89925267 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18803G>T (p.Gly6268Val) |
single nucleotide variant |
not provided [RCV001358397] |
Chr5:91163782 [GRCh38] Chr5:90459599 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17333T>C (p.Leu5778Pro) |
single nucleotide variant |
Hearing impairment [RCV001375343] |
Chr5:90853412 [GRCh38] Chr5:90149229 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11120T>C (p.Val3707Ala) |
single nucleotide variant |
not provided [RCV001359897] |
Chr5:90750696 [GRCh38] Chr5:90046513 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.574A>G (p.Asn192Asp) |
single nucleotide variant |
not provided [RCV001359039] |
Chr5:90625145 [GRCh38] Chr5:89920962 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.16252G>A (p.Val5418Met) |
single nucleotide variant |
not provided [RCV001359081] |
Chr5:90823480 [GRCh38] Chr5:90119297 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5620A>G (p.Ser1874Gly) |
single nucleotide variant |
not provided [RCV001414610] |
Chr5:90681410 [GRCh38] Chr5:89977227 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15522C>T (p.Asn5174=) |
single nucleotide variant |
not provided [RCV001433910] |
Chr5:90810782 [GRCh38] Chr5:90106599 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2707G>T (p.Glu903Ter) |
single nucleotide variant |
not provided [RCV001383187] |
Chr5:90643956 [GRCh38] Chr5:89939773 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1994C>T (p.Pro665Leu) |
single nucleotide variant |
not provided [RCV001358939] |
Chr5:90635268 [GRCh38] Chr5:89931085 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7540C>A (p.Gln2514Lys) |
single nucleotide variant |
not provided [RCV001359366] |
Chr5:90694296 [GRCh38] Chr5:89990113 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2892A>T (p.Pro964=) |
single nucleotide variant |
not provided [RCV001392029] |
Chr5:90644863 [GRCh38] Chr5:89940680 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3671C>T (p.Thr1224Ile) |
single nucleotide variant |
not provided [RCV001370088] |
Chr5:90653245 [GRCh38] Chr5:89949062 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.12439G>A (p.Ala4147Thr) |
single nucleotide variant |
not provided [RCV001370141] |
Chr5:90776488 [GRCh38] Chr5:90072305 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10264G>C (p.Ala3422Pro) |
single nucleotide variant |
Usher syndrome type 2C [RCV001376496] |
Chr5:90728771 [GRCh38] Chr5:90024588 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17368A>G (p.Ser5790Gly) |
single nucleotide variant |
not provided [RCV001303099] |
Chr5:90853447 [GRCh38] Chr5:90149264 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9056C>T (p.Ala3019Val) |
single nucleotide variant |
not provided [RCV001351411] |
Chr5:90712300 [GRCh38] Chr5:90008117 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6203C>G (p.Pro2068Arg) |
single nucleotide variant |
not provided [RCV001371473] |
Chr5:90684124 [GRCh38] Chr5:89979941 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9953G>A (p.Gly3318Asp) |
single nucleotide variant |
not provided [RCV001362526] |
Chr5:90725132 [GRCh38] Chr5:90020949 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14043+14T>C |
single nucleotide variant |
not provided [RCV001421902] |
Chr5:90789865 [GRCh38] Chr5:90085682 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5838A>G (p.Ala1946=) |
single nucleotide variant |
not provided [RCV001414153] |
Chr5:90683759 [GRCh38] Chr5:89979576 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8013C>G (p.Ile2671Met) |
single nucleotide variant |
not provided [RCV001296686] |
Chr5:90697004 [GRCh38] Chr5:89992821 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.4514G>T (p.Ser1505Ile) |
single nucleotide variant |
not provided [RCV001362134] |
Chr5:90658040 [GRCh38] Chr5:89953857 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18433-181dup |
duplication |
not provided [RCV001538819] |
Chr5:91149831..91149832 [GRCh38] Chr5:90445648..90445649 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.14972+1G>T |
single nucleotide variant |
Usher syndrome type 2C [RCV001376190]|not provided [RCV002550229] |
Chr5:90807738 [GRCh38] Chr5:90103555 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.12380_12381del (p.Glu4127fs) |
deletion |
Usher syndrome type 2C [RCV001376191] |
Chr5:90774279..90774280 [GRCh38] Chr5:90070096..90070097 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.14664C>T (p.Val4888=) |
single nucleotide variant |
not provided [RCV001397335] |
Chr5:90805286 [GRCh38] Chr5:90101103 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9171del (p.Asn3059fs) |
deletion |
not provided [RCV001383300] |
Chr5:90712413 [GRCh38] Chr5:90008230 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.5149A>G (p.Lys1717Glu) |
single nucleotide variant |
not provided [RCV001313222] |
Chr5:90675281 [GRCh38] Chr5:89971098 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13034G>A (p.Gly4345Asp) |
single nucleotide variant |
not provided [RCV001373108] |
Chr5:90779049 [GRCh38] Chr5:90074866 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12838G>C (p.Glu4280Gln) |
single nucleotide variant |
not provided [RCV001362255] |
Chr5:90778598 [GRCh38] Chr5:90074415 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5525-303T>C |
single nucleotide variant |
not provided [RCV001581517] |
Chr5:90681012 [GRCh38] Chr5:89976829 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18548C>T (p.Thr6183Met) |
single nucleotide variant |
not provided [RCV001319863] |
Chr5:91150145 [GRCh38] Chr5:90445962 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.16982A>G (p.Asp5661Gly) |
single nucleotide variant |
not provided [RCV001345661] |
Chr5:90840948 [GRCh38] Chr5:90136765 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.9185-3C>A |
single nucleotide variant |
not provided [RCV001346406] |
Chr5:90716464 [GRCh38] Chr5:90012281 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11458C>A (p.Pro3820Thr) |
single nucleotide variant |
Usher syndrome type 2C [RCV001374889] |
Chr5:90755063 [GRCh38] Chr5:90050880 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2524T>G (p.Leu842Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003284289]|not provided [RCV001373591] |
Chr5:90643012 [GRCh38] Chr5:89938829 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.14474A>G (p.Asp4825Gly) |
single nucleotide variant |
Hearing impairment [RCV001375113]|not provided [RCV001865872] |
Chr5:90791303 [GRCh38] Chr5:90087120 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3484G>A (p.Ala1162Thr) |
single nucleotide variant |
not provided [RCV001350828] |
Chr5:90652413 [GRCh38] Chr5:89948230 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16249G>A (p.Val5417Ile) |
single nucleotide variant |
not provided [RCV001316375] |
Chr5:90823477 [GRCh38] Chr5:90119294 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.16427C>T (p.Ala5476Val) |
single nucleotide variant |
not provided [RCV001299064] |
Chr5:90829002 [GRCh38] Chr5:90124819 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3578C>G (p.Pro1193Arg) |
single nucleotide variant |
not provided [RCV001309445] |
Chr5:90652507 [GRCh38] Chr5:89948324 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3583A>G (p.Lys1195Glu) |
single nucleotide variant |
not provided [RCV001299948] |
Chr5:90652512 [GRCh38] Chr5:89948329 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1235C>T (p.Ser412Leu) |
single nucleotide variant |
not provided [RCV001299953] |
Chr5:90627773 [GRCh38] Chr5:89923590 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13016A>T (p.Asp4339Val) |
single nucleotide variant |
not provided [RCV001301424] |
Chr5:90779031 [GRCh38] Chr5:90074848 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.2528T>C (p.Leu843Pro) |
single nucleotide variant |
not provided [RCV001364217] |
Chr5:90643016 [GRCh38] Chr5:89938833 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16956C>T (p.Ser5652=) |
single nucleotide variant |
not provided [RCV001364224] |
Chr5:90840922 [GRCh38] Chr5:90136739 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.1309C>T (p.Arg437Trp) |
single nucleotide variant |
Usher syndrome type 2C [RCV002272459]|not provided [RCV001364246] |
Chr5:90628632 [GRCh38] Chr5:89924449 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4054A>G (p.Ile1352Val) |
single nucleotide variant |
not provided [RCV001350918] |
Chr5:90653628 [GRCh38] Chr5:89949445 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6938C>T (p.Pro2313Leu) |
single nucleotide variant |
not provided [RCV001327271] |
Chr5:90691028 [GRCh38] Chr5:89986845 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.9837A>G (p.Ile3279Met) |
single nucleotide variant |
not provided [RCV001346555] |
Chr5:90724920 [GRCh38] Chr5:90020737 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11121+16A>G |
single nucleotide variant |
not provided [RCV001295946] |
Chr5:90750713 [GRCh38] Chr5:90046530 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12035G>A (p.Gly4012Asp) |
single nucleotide variant |
not provided [RCV001314577] |
Chr5:90759503 [GRCh38] Chr5:90055320 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10547T>C (p.Ile3516Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003365330]|not provided [RCV001320162] |
Chr5:90729762 [GRCh38] Chr5:90025579 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11828G>A (p.Arg3943Gln) |
single nucleotide variant |
not provided [RCV001321738] |
Chr5:90757049 [GRCh38] Chr5:90052866 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8443A>G (p.Thr2815Ala) |
single nucleotide variant |
not provided [RCV001324018] |
Chr5:90705456 [GRCh38] Chr5:90001273 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.17998G>C (p.Val6000Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003246936]|not provided [RCV001360542] |
Chr5:90985368 [GRCh38] Chr5:90281185 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12057_12059del (p.Val4020del) |
deletion |
not provided [RCV001360718] |
Chr5:90759523..90759525 [GRCh38] Chr5:90055340..90055342 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.182C>T (p.Pro61Leu) |
single nucleotide variant |
not provided [RCV001360723] |
Chr5:90614994 [GRCh38] Chr5:89910811 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17020-6T>A |
single nucleotide variant |
not provided [RCV001299206] |
Chr5:90848631 [GRCh38] Chr5:90144448 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12773C>T (p.Thr4258Met) |
single nucleotide variant |
not provided [RCV001309663] |
Chr5:90778533 [GRCh38] Chr5:90074350 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.1239A>G (p.Arg413=) |
single nucleotide variant |
not provided [RCV001342272] |
Chr5:90628562 [GRCh38] Chr5:89924379 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9456A>G (p.Gln3152=) |
single nucleotide variant |
not provided [RCV001343820] |
Chr5:90720056 [GRCh38] Chr5:90015873 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11500G>A (p.Glu3834Lys) |
single nucleotide variant |
not provided [RCV001321892] |
Chr5:90755105 [GRCh38] Chr5:90050922 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5968G>T (p.Val1990Phe) |
single nucleotide variant |
not provided [RCV001345900] |
Chr5:90683889 [GRCh38] Chr5:89979706 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1792A>G (p.Ile598Val) |
single nucleotide variant |
not provided [RCV001324034] |
Chr5:90629492 [GRCh38] Chr5:89925309 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.86G>A (p.Gly29Glu) |
single nucleotide variant |
not provided [RCV001360784] |
Chr5:90614898 [GRCh38] Chr5:89910715 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15769A>G (p.Ile5257Val) |
single nucleotide variant |
not provided [RCV001360898] |
Chr5:90811029 [GRCh38] Chr5:90106846 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3023-9A>G |
single nucleotide variant |
not provided [RCV001359322] |
Chr5:90647489 [GRCh38] Chr5:89943306 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15755C>T (p.Thr5252Ile) |
single nucleotide variant |
not provided [RCV001305583] |
Chr5:90811015 [GRCh38] Chr5:90106832 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17518T>C (p.Tyr5840His) |
single nucleotide variant |
Usher syndrome type 2C [RCV002493786]|not provided [RCV001346840] |
Chr5:90854125 [GRCh38] Chr5:90149942 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.7134-20A>G |
single nucleotide variant |
not provided [RCV001346925] |
Chr5:90693870 [GRCh38] Chr5:89989687 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1839+5T>C |
single nucleotide variant |
not provided [RCV001371915] |
Chr5:90629544 [GRCh38] Chr5:89925361 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7148G>A (p.Gly2383Asp) |
single nucleotide variant |
not provided [RCV001306814] |
Chr5:90693904 [GRCh38] Chr5:89989721 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3838G>A (p.Asp1280Asn) |
single nucleotide variant |
not provided [RCV001323148] |
Chr5:90653412 [GRCh38] Chr5:89949229 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11071G>A (p.Ala3691Thr) |
single nucleotide variant |
not provided [RCV001324167] |
Chr5:90750647 [GRCh38] Chr5:90046464 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.4929+6C>T |
single nucleotide variant |
not provided [RCV001349623] |
Chr5:90672728 [GRCh38] Chr5:89968545 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9185C>T (p.Ala3062Val) |
single nucleotide variant |
not provided [RCV001325629] |
Chr5:90716467 [GRCh38] Chr5:90012284 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16514G>A (p.Arg5505Gln) |
single nucleotide variant |
not provided [RCV001315996] |
Chr5:90829089 [GRCh38] Chr5:90124906 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1577A>G (p.Gln526Arg) |
single nucleotide variant |
not provided [RCV001326814] |
Chr5:90629277 [GRCh38] Chr5:89925094 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1243G>A (p.Glu415Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003169915]|not provided [RCV001372358] |
Chr5:90628566 [GRCh38] Chr5:89924383 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.18154T>G (p.Cys6052Gly) |
single nucleotide variant |
not provided [RCV001374072] |
Chr5:91072448 [GRCh38] Chr5:90368265 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7735G>A (p.Val2579Met) |
single nucleotide variant |
Hearing impairment [RCV001375190]|not provided [RCV001579415] |
Chr5:90694491 [GRCh38] Chr5:89990308 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14467G>A (p.Val4823Ile) |
single nucleotide variant |
not provided [RCV001327678] |
Chr5:90791296 [GRCh38] Chr5:90087113 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5713A>G (p.Ile1905Val) |
single nucleotide variant |
not provided [RCV001342576] |
Chr5:90683634 [GRCh38] Chr5:89979451 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7078_7079delinsTA (p.Arg2360Tyr) |
indel |
not provided [RCV001342580] |
Chr5:90692731..90692732 [GRCh38] Chr5:89988548..89988549 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8154A>C (p.Glu2718Asp) |
single nucleotide variant |
not provided [RCV001347298] |
Chr5:90697145 [GRCh38] Chr5:89992962 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9317A>C (p.Glu3106Ala) |
single nucleotide variant |
not provided [RCV001347374] |
Chr5:90716599 [GRCh38] Chr5:90012416 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11709A>G (p.Ile3903Met) |
single nucleotide variant |
not provided [RCV001374186] |
Chr5:90756582 [GRCh38] Chr5:90052399 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15056A>G (p.Asp5019Gly) |
single nucleotide variant |
not provided [RCV001325757] |
Chr5:90810316 [GRCh38] Chr5:90106133 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4526C>A (p.Pro1509Gln) |
single nucleotide variant |
not provided [RCV001339907] |
Chr5:90658052 [GRCh38] Chr5:89953869 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4429A>G (p.Thr1477Ala) |
single nucleotide variant |
not provided [RCV001323348] |
Chr5:90657955 [GRCh38] Chr5:89953772 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13615G>C (p.Val4539Leu) |
single nucleotide variant |
not provided [RCV001324376] |
Chr5:90784019 [GRCh38] Chr5:90079836 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6557C>T (p.Pro2186Leu) |
single nucleotide variant |
not provided [RCV001347423] |
Chr5:90689927 [GRCh38] Chr5:89985744 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13402A>G (p.Ile4468Val) |
single nucleotide variant |
not provided [RCV001347485] |
Chr5:90783294 [GRCh38] Chr5:90079111 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11116G>A (p.Gly3706Arg) |
single nucleotide variant |
not provided [RCV001372563] |
Chr5:90750692 [GRCh38] Chr5:90046509 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6232C>A (p.Leu2078Ile) |
single nucleotide variant |
not provided [RCV001298425] |
Chr5:90684153 [GRCh38] Chr5:89979970 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5473G>A (p.Gly1825Ser) |
single nucleotide variant |
not provided [RCV001319288] |
Chr5:90679578 [GRCh38] Chr5:89975395 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6979T>C (p.Ser2327Pro) |
single nucleotide variant |
not provided [RCV001342810] |
Chr5:90692632 [GRCh38] Chr5:89988449 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10200A>G (p.Gln3400=) |
single nucleotide variant |
not provided [RCV001322333] |
Chr5:90728707 [GRCh38] Chr5:90024524 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.7183G>A (p.Asp2395Asn) |
single nucleotide variant |
not provided [RCV001345276] |
Chr5:90693939 [GRCh38] Chr5:89989756 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14508A>G (p.Ile4836Met) |
single nucleotide variant |
not provided [RCV001313346] |
Chr5:90791337 [GRCh38] Chr5:90087154 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13256T>C (p.Met4419Thr) |
single nucleotide variant |
not provided [RCV001347650] |
Chr5:90783148 [GRCh38] Chr5:90078965 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12484A>T (p.Ile4162Phe) |
single nucleotide variant |
not provided [RCV001363447] |
Chr5:90776533 [GRCh38] Chr5:90072350 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4472C>T (p.Thr1491Met) |
single nucleotide variant |
not provided [RCV001298501] |
Chr5:90657998 [GRCh38] Chr5:89953815 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.2665A>G (p.Ile889Val) |
single nucleotide variant |
not provided [RCV001308911] |
Chr5:90643914 [GRCh38] Chr5:89939731 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16346G>C (p.Ser5449Thr) |
single nucleotide variant |
not provided [RCV001308942] |
Chr5:90823574 [GRCh38] Chr5:90119391 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4658G>A (p.Arg1553His) |
single nucleotide variant |
Inborn genetic diseases [RCV002547395]|not provided [RCV001340087] |
Chr5:90658184 [GRCh38] Chr5:89954001 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.18477G>A (p.Met6159Ile) |
single nucleotide variant |
not provided [RCV001320910] |
Chr5:91150074 [GRCh38] Chr5:90445891 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16450G>A (p.Ala5484Thr) |
single nucleotide variant |
not provided [RCV001322392] |
Chr5:90829025 [GRCh38] Chr5:90124842 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.7500G>T (p.Gly2500=) |
single nucleotide variant |
not provided [RCV001345325] |
Chr5:90694256 [GRCh38] Chr5:89990073 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12808G>A (p.Ala4270Thr) |
single nucleotide variant |
not provided [RCV001323486] |
Chr5:90778568 [GRCh38] Chr5:90074385 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7508A>G (p.Tyr2503Cys) |
single nucleotide variant |
not provided [RCV001347752] |
Chr5:90694264 [GRCh38] Chr5:89990081 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14180A>C (p.Glu4727Ala) |
single nucleotide variant |
not provided [RCV001317142] |
Chr5:90791009 [GRCh38] Chr5:90086826 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.8390T>G (p.Val2797Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002546067]|not provided [RCV001319404] |
Chr5:90705403 [GRCh38] Chr5:90001220 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11730A>T (p.Arg3910Ser) |
single nucleotide variant |
not provided [RCV001345428] |
Chr5:90756603 [GRCh38] Chr5:90052420 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18856G>A (p.Gly6286Ser) |
single nucleotide variant |
not provided [RCV001349957] |
Chr5:91163835 [GRCh38] Chr5:90459652 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6275-3C>G |
single nucleotide variant |
not provided [RCV001347876] |
Chr5:90685777 [GRCh38] Chr5:89981594 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9476C>T (p.Thr3159Met) |
single nucleotide variant |
not provided [RCV001318138] |
Chr5:90720076 [GRCh38] Chr5:90015893 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12461C>T (p.Ala4154Val) |
single nucleotide variant |
not provided [RCV001321148] |
Chr5:90776510 [GRCh38] Chr5:90072327 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16639C>T (p.Arg5547Cys) |
single nucleotide variant |
not provided [RCV001321156] |
Chr5:90840605 [GRCh38] Chr5:90136422 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7843G>A (p.Gly2615Ser) |
single nucleotide variant |
not provided [RCV001345465] |
Chr5:90694599 [GRCh38] Chr5:89990416 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14494G>A (p.Asp4832Asn) |
single nucleotide variant |
Usher syndrome type 2C [RCV001374890] |
Chr5:90791323 [GRCh38] Chr5:90087140 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4545G>C (p.Glu1515Asp) |
single nucleotide variant |
not provided [RCV001340299] |
Chr5:90658071 [GRCh38] Chr5:89953888 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18021G>C (p.Glu6007Asp) |
single nucleotide variant |
not provided [RCV001301038] |
Chr5:90985391 [GRCh38] Chr5:90281208 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12521T>C (p.Ile4174Thr) |
single nucleotide variant |
not provided [RCV001343177] |
Chr5:90776570 [GRCh38] Chr5:90072387 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16530C>G (p.His5510Gln) |
single nucleotide variant |
not provided [RCV001343193] |
Chr5:90829105 [GRCh38] Chr5:90124922 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13367C>T (p.Thr4456Ile) |
single nucleotide variant |
not provided [RCV001345512] |
Chr5:90783259 [GRCh38] Chr5:90079076 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13333C>T (p.Pro4445Ser) |
single nucleotide variant |
not provided [RCV001373323] |
Chr5:90783225 [GRCh38] Chr5:90079042 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NC_000005.9:g.(?_90398036)_(90459717_?)dup |
duplication |
not provided [RCV001296708] |
Chr5:90398036..90459717 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17891A>C (p.Gln5964Pro) |
single nucleotide variant |
not provided [RCV001298857] |
Chr5:90965449 [GRCh38] Chr5:90261266 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.853C>T (p.Arg285Cys) |
single nucleotide variant |
not provided [RCV001318328] |
Chr5:90627391 [GRCh38] Chr5:89923208 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.16127G>A (p.Ser5376Asn) |
single nucleotide variant |
not provided [RCV001341692] |
Chr5:90815667 [GRCh38] Chr5:90111484 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13882G>A (p.Val4628Ile) |
single nucleotide variant |
not provided [RCV001346289] |
Chr5:90788299 [GRCh38] Chr5:90084116 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14711C>T (p.Thr4904Ile) |
single nucleotide variant |
not provided [RCV001364578] |
Chr5:90805333 [GRCh38] Chr5:90101150 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8669T>C (p.Ile2890Thr) |
single nucleotide variant |
not provided [RCV001295806] |
Chr5:90706333 [GRCh38] Chr5:90002150 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11629G>T (p.Val3877Leu) |
single nucleotide variant |
not provided [RCV001296818] |
Chr5:90756502 [GRCh38] Chr5:90052319 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6752C>T (p.Ser2251Leu) |
single nucleotide variant |
not provided [RCV001309397] |
Chr5:90690842 [GRCh38] Chr5:89986659 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.17618G>C (p.Cys5873Ser) |
single nucleotide variant |
not provided [RCV001301190] |
Chr5:90855764 [GRCh38] Chr5:90151581 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12244C>T (p.His4082Tyr) |
single nucleotide variant |
not provided [RCV001324611] |
Chr5:90763428 [GRCh38] Chr5:90059245 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5917G>C (p.Asp1973His) |
single nucleotide variant |
not provided [RCV001296817] |
Chr5:90683838 [GRCh38] Chr5:89979655 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17107C>T (p.Arg5703Cys) |
single nucleotide variant |
not provided [RCV001306927] |
Chr5:90848724 [GRCh38] Chr5:90144541 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15059C>T (p.Thr5020Ile) |
single nucleotide variant |
not provided [RCV001295317] |
Chr5:90810319 [GRCh38] Chr5:90106136 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12120+3A>T |
single nucleotide variant |
not provided [RCV001313948] |
Chr5:90759591 [GRCh38] Chr5:90055408 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8005G>A (p.Glu2669Lys) |
single nucleotide variant |
not provided [RCV001325384] |
Chr5:90696996 [GRCh38] Chr5:89992813 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7621T>G (p.Ser2541Ala) |
single nucleotide variant |
not provided [RCV001325397] |
Chr5:90694377 [GRCh38] Chr5:89990194 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.8324A>G (p.Asp2775Gly) |
single nucleotide variant |
not provided [RCV001366396] |
Chr5:90704426 [GRCh38] Chr5:90000243 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14044G>A (p.Val4682Ile) |
single nucleotide variant |
not provided [RCV001351909] |
Chr5:90790873 [GRCh38] Chr5:90086690 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18674G>T (p.Ser6225Ile) |
single nucleotide variant |
not provided [RCV001813010] |
Chr5:91153270 [GRCh38] Chr5:90449087 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3934G>A (p.Val1312Met) |
single nucleotide variant |
not provided [RCV001318162]|not specified [RCV003323854] |
Chr5:90653508 [GRCh38] Chr5:89949325 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.2369A>G (p.Glu790Gly) |
single nucleotide variant |
not provided [RCV001340277] |
Chr5:90642857 [GRCh38] Chr5:89938674 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7182T>G (p.Ile2394Met) |
single nucleotide variant |
not provided [RCV001360249] |
Chr5:90693938 [GRCh38] Chr5:89989755 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10281T>G (p.Asn3427Lys) |
single nucleotide variant |
not provided [RCV001366516] |
Chr5:90728788 [GRCh38] Chr5:90024605 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1035A>G (p.Gln345=) |
single nucleotide variant |
not provided [RCV001366611] |
Chr5:90627573 [GRCh38] Chr5:89923390 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3243C>G (p.Ile1081Met) |
single nucleotide variant |
not provided [RCV001366616] |
Chr5:90647718 [GRCh38] Chr5:89943535 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8601A>G (p.Gly2867=) |
single nucleotide variant |
not provided [RCV001396071] |
Chr5:90706265 [GRCh38] Chr5:90002082 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9491A>G (p.Asp3164Gly) |
single nucleotide variant |
not provided [RCV001314223] |
Chr5:90720091 [GRCh38] Chr5:90015908 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15308A>G (p.Gln5103Arg) |
single nucleotide variant |
not provided [RCV001314688] |
Chr5:90810568 [GRCh38] Chr5:90106385 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.16304G>C (p.Gly5435Ala) |
single nucleotide variant |
not provided [RCV001314792] |
Chr5:90823532 [GRCh38] Chr5:90119349 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3416G>T (p.Trp1139Leu) |
single nucleotide variant |
not provided [RCV001305697] |
Chr5:90651730 [GRCh38] Chr5:89947547 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5722G>A (p.Asp1908Asn) |
single nucleotide variant |
not provided [RCV001360499] |
Chr5:90683643 [GRCh38] Chr5:89979460 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14938G>T (p.Val4980Leu) |
single nucleotide variant |
not provided [RCV001366666] |
Chr5:90807703 [GRCh38] Chr5:90103520 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NC_000005.9:g.(?_89981818)_89983865del |
deletion |
not provided [RCV001325667] |
|
uncertain significance |
NM_032119.4(ADGRV1):c.17540C>G (p.Pro5847Arg) |
single nucleotide variant |
not provided [RCV001366826] |
Chr5:90854147 [GRCh38] Chr5:90149964 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2357A>C (p.Tyr786Ser) |
single nucleotide variant |
not provided [RCV001366932] |
Chr5:90642752 [GRCh38] Chr5:89938569 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13887_13892dup (p.Leu4630_Thr4631dup) |
duplication |
not provided [RCV001314967] |
Chr5:90788301..90788302 [GRCh38] Chr5:90084118..90084119 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16625C>A (p.Ala5542Asp) |
single nucleotide variant |
Hearing impairment [RCV001375148]|not provided [RCV001296401] |
Chr5:90840591 [GRCh38] Chr5:90136408 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6254C>T (p.Ala2085Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002538466]|not provided [RCV001296430] |
Chr5:90684175 [GRCh38] Chr5:89979992 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13529G>A (p.Ser4510Asn) |
single nucleotide variant |
not provided [RCV001300171] |
Chr5:90783933 [GRCh38] Chr5:90079750 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11222G>A (p.Arg3741His) |
single nucleotide variant |
Inborn genetic diseases [RCV002547860]|not provided [RCV001366959] |
Chr5:90753674 [GRCh38] Chr5:90049491 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14407A>T (p.Ile4803Leu) |
single nucleotide variant |
not provided [RCV001368040] |
Chr5:90791236 [GRCh38] Chr5:90087053 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6767T>C (p.Leu2256Pro) |
single nucleotide variant |
not provided [RCV001367146] |
Chr5:90690857 [GRCh38] Chr5:89986674 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16321A>G (p.Met5441Val) |
single nucleotide variant |
not specified [RCV001449786] |
Chr5:90823549 [GRCh38] Chr5:90119366 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6274A>C (p.Ile2092Leu) |
single nucleotide variant |
Hearing impairment [RCV001375091] |
Chr5:90684195 [GRCh38] Chr5:89980012 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11429G>T (p.Gly3810Val) |
single nucleotide variant |
Beta-D-mannosidosis [RCV001375102]|not provided [RCV001865871] |
Chr5:90755034 [GRCh38] Chr5:90050851 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1567A>G (p.Met523Val) |
single nucleotide variant |
not provided [RCV001316601] |
Chr5:90629267 [GRCh38] Chr5:89925084 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.4228A>G (p.Ile1410Val) |
single nucleotide variant |
not provided [RCV001318917] |
Chr5:90653802 [GRCh38] Chr5:89949619 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3416+3A>G |
single nucleotide variant |
not provided [RCV001367209] |
Chr5:90651733 [GRCh38] Chr5:89947550 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10816G>C (p.Ala3606Pro) |
single nucleotide variant |
not provided [RCV001367245] |
Chr5:90745637 [GRCh38] Chr5:90041454 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11309A>G (p.Asn3770Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002548614]|not provided [RCV001368947] |
Chr5:90753761 [GRCh38] Chr5:90049578 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.4820A>G (p.His1607Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002547559]|not provided [RCV001352476] |
Chr5:90672613 [GRCh38] Chr5:89968430 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17537A>G (p.Glu5846Gly) |
single nucleotide variant |
not provided [RCV001365325] |
Chr5:90854144 [GRCh38] Chr5:90149961 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3824A>G (p.Gln1275Arg) |
single nucleotide variant |
not provided [RCV001327514] |
Chr5:90653398 [GRCh38] Chr5:89949215 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5525-5T>A |
single nucleotide variant |
not provided [RCV001300570] |
Chr5:90681310 [GRCh38] Chr5:89977127 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2285G>A (p.Arg762His) |
single nucleotide variant |
Usher syndrome type 2C [RCV002488257]|not provided [RCV001865917]|not specified [RCV001449819] |
Chr5:90642680 [GRCh38] Chr5:89938497 [GRCh37] Chr5:5q14.3 |
risk factor|likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.9746T>C (p.Met3249Thr) |
single nucleotide variant |
not specified [RCV001449820] |
Chr5:90721057 [GRCh38] Chr5:90016874 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16010G>A (p.Gly5337Glu) |
single nucleotide variant |
not provided [RCV001865918]|not specified [RCV001449821] |
Chr5:90811270 [GRCh38] Chr5:90107087 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6698G>C (p.Gly2233Ala) |
single nucleotide variant |
not provided [RCV001368569] |
Chr5:90690068 [GRCh38] Chr5:89985885 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6058G>T (p.Asp2020Tyr) |
single nucleotide variant |
not provided [RCV001365442] |
Chr5:90683979 [GRCh38] Chr5:89979796 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2160A>G (p.Gln720=) |
single nucleotide variant |
not provided [RCV001316794] |
Chr5:90637868 [GRCh38] Chr5:89933685 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13907G>A (p.Gly4636Asp) |
single nucleotide variant |
not provided [RCV001371742] |
Chr5:90789715 [GRCh38] Chr5:90085532 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14721T>C (p.Val4907=) |
single nucleotide variant |
not provided [RCV001413282] |
Chr5:90805343 [GRCh38] Chr5:90101160 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15634G>A (p.Ala5212Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003382503]|not provided [RCV001298283] |
Chr5:90810894 [GRCh38] Chr5:90106711 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7319C>T (p.Ala2440Val) |
single nucleotide variant |
Hearing impairment [RCV001375073] |
Chr5:90694075 [GRCh38] Chr5:89989892 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3245C>T (p.Pro1082Leu) |
single nucleotide variant |
Hearing impairment [RCV001375236]|not provided [RCV002550208] |
Chr5:90647720 [GRCh38] Chr5:89943537 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3328A>G (p.Ile1110Val) |
single nucleotide variant |
not provided [RCV001371979] |
Chr5:90651642 [GRCh38] Chr5:89947459 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2123G>A (p.Gly708Asp) |
single nucleotide variant |
not provided [RCV001303473] |
Chr5:90637831 [GRCh38] Chr5:89933648 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16308C>G (p.Thr5436=) |
single nucleotide variant |
not provided [RCV001412895] |
Chr5:90823536 [GRCh38] Chr5:90119353 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3232G>A (p.Glu1078Lys) |
single nucleotide variant |
Hearing impairment [RCV001375070] |
Chr5:90647707 [GRCh38] Chr5:89943524 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7078C>T (p.Arg2360Cys) |
single nucleotide variant |
not provided [RCV001368891] |
Chr5:90692731 [GRCh38] Chr5:89988548 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.5148T>C (p.Pro1716=) |
single nucleotide variant |
not provided [RCV001395648] |
Chr5:90675280 [GRCh38] Chr5:89971097 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7046A>G (p.Tyr2349Cys) |
single nucleotide variant |
not provided [RCV001298445] |
Chr5:90692699 [GRCh38] Chr5:89988516 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5789A>G (p.Asn1930Ser) |
single nucleotide variant |
not provided [RCV001326587] |
Chr5:90683710 [GRCh38] Chr5:89979527 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6730G>A (p.Val2244Ile) |
single nucleotide variant |
Usher syndrome [RCV001375346]|Usher syndrome type 2C [RCV002493909]|not provided [RCV001865878] |
Chr5:90690820 [GRCh38] Chr5:89986637 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10189G>A (p.Val3397Met) |
single nucleotide variant |
not provided [RCV001369179] |
Chr5:90728696 [GRCh38] Chr5:90024513 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.10170G>A (p.Arg3390=) |
single nucleotide variant |
not provided [RCV001421388] |
Chr5:90728677 [GRCh38] Chr5:90024494 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9262G>C (p.Glu3088Gln) |
single nucleotide variant |
not provided [RCV001308281] |
Chr5:90716544 [GRCh38] Chr5:90012361 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14662-3C>T |
single nucleotide variant |
not provided [RCV001365684] |
Chr5:90805281 [GRCh38] Chr5:90101098 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17385C>T (p.Val5795=) |
single nucleotide variant |
not provided [RCV001494965] |
Chr5:90853464 [GRCh38] Chr5:90149281 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15640G>A (p.Val5214Ile) |
single nucleotide variant |
not provided [RCV001313599] |
Chr5:90810900 [GRCh38] Chr5:90106717 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.296C>T (p.Ala99Val) |
single nucleotide variant |
not provided [RCV001310512] |
Chr5:90617892 [GRCh38] Chr5:89913709 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14645A>C (p.Lys4882Thr) |
single nucleotide variant |
not provided [RCV001303932] |
Chr5:90802866 [GRCh38] Chr5:90098683 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NC_000005.9:g.(?_89943295)_(89943601_?)del |
deletion |
not provided [RCV001296707] |
Chr5:89943295..89943601 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4040C>T (p.Ser1347Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002545015]|not provided [RCV001308404] |
Chr5:90653614 [GRCh38] Chr5:89949431 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.11947G>A (p.Ala3983Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002547843]|not provided [RCV001365884] |
Chr5:90759415 [GRCh38] Chr5:90055232 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.13281A>T (p.Gly4427=) |
single nucleotide variant |
not provided [RCV001305193] |
Chr5:90783173 [GRCh38] Chr5:90078990 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16010G>C (p.Gly5337Ala) |
single nucleotide variant |
not provided [RCV001299067] |
Chr5:90811270 [GRCh38] Chr5:90107087 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18857G>C (p.Gly6286Ala) |
single nucleotide variant |
not provided [RCV001359669] |
Chr5:91163836 [GRCh38] Chr5:90459653 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16031_16032delinsGA (p.Glu5344Gly) |
indel |
not provided [RCV001469514] |
Chr5:90811291..90811292 [GRCh38] Chr5:90107108..90107109 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7719T>C (p.Asn2573=) |
single nucleotide variant |
not provided [RCV001492165] |
Chr5:90694475 [GRCh38] Chr5:89990292 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3456A>G (p.Val1152=) |
single nucleotide variant |
not provided [RCV001495074] |
Chr5:90652385 [GRCh38] Chr5:89948202 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12999G>C (p.Leu4333=) |
single nucleotide variant |
not provided [RCV001495148] |
Chr5:90779014 [GRCh38] Chr5:90074831 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6312T>A (p.Thr2104=) |
single nucleotide variant |
not provided [RCV001461574] |
Chr5:90685817 [GRCh38] Chr5:89981634 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11378-9C>T |
single nucleotide variant |
not provided [RCV001482040] |
Chr5:90754974 [GRCh38] Chr5:90050791 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13638C>G (p.Leu4546=) |
single nucleotide variant |
not provided [RCV001494921] |
Chr5:90784042 [GRCh38] Chr5:90079859 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7935C>A (p.Thr2645=) |
single nucleotide variant |
not provided [RCV001424487] |
Chr5:90694691 [GRCh38] Chr5:89990508 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14404C>T (p.Arg4802Ter) |
single nucleotide variant |
ADGRV1-related condition [RCV003416310]|not provided [RCV001389291] |
Chr5:90791233 [GRCh38] Chr5:90087050 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.17304A>G (p.Gly5768=) |
single nucleotide variant |
not provided [RCV001498208] |
Chr5:90853383 [GRCh38] Chr5:90149200 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.23-9T>A |
single nucleotide variant |
not provided [RCV001486952] |
Chr5:90614826 [GRCh38] Chr5:89910643 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13689A>G (p.Glu4563=) |
single nucleotide variant |
not provided [RCV001490297] |
Chr5:90788106 [GRCh38] Chr5:90083923 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6274+19_6274+21dup |
duplication |
not provided [RCV001473140] |
Chr5:90684212..90684213 [GRCh38] Chr5:89980029..89980030 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5524+11_5524+13dup |
duplication |
not provided [RCV001461830] |
Chr5:90679637..90679638 [GRCh38] Chr5:89975454..89975455 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1251C>A (p.Ile417=) |
single nucleotide variant |
not provided [RCV001399078] |
Chr5:90628574 [GRCh38] Chr5:89924391 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6033C>A (p.Val2011=) |
single nucleotide variant |
not provided [RCV001402095] |
Chr5:90683954 [GRCh38] Chr5:89979771 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11067C>T (p.Thr3689=) |
single nucleotide variant |
not provided [RCV001450920] |
Chr5:90750643 [GRCh38] Chr5:90046460 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7946-4A>C |
single nucleotide variant |
not provided [RCV001458107] |
Chr5:90696933 [GRCh38] Chr5:89992750 [GRCh37] Chr5:5q14.3 |
likely benign |
NC_000005.9:g.(?_90144434)_(90159694_?)dup |
duplication |
not provided [RCV001377866] |
Chr5:90144434..90159694 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.15360A>C (p.Ala5120=) |
single nucleotide variant |
not provided [RCV001482592] |
Chr5:90810620 [GRCh38] Chr5:90106437 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11757+2T>A |
single nucleotide variant |
not provided [RCV001378133] |
Chr5:90756632 [GRCh38] Chr5:90052449 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.18433-17_18433-16insCTT |
insertion |
not provided [RCV001522959] |
Chr5:91150011..91150012 [GRCh38] Chr5:90445828..90445829 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.9504T>A (p.Val3168=) |
single nucleotide variant |
not provided [RCV001470377] |
Chr5:90720104 [GRCh38] Chr5:90015921 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11733A>G (p.Gly3911=) |
single nucleotide variant |
not provided [RCV001475273] |
Chr5:90756606 [GRCh38] Chr5:90052423 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10932T>C (p.Ile3644=) |
single nucleotide variant |
not provided [RCV001479784] |
Chr5:90745753 [GRCh38] Chr5:90041570 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14442C>T (p.Thr4814=) |
single nucleotide variant |
not provided [RCV001436202] |
Chr5:90791271 [GRCh38] Chr5:90087088 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6556C>G (p.Pro2186Ala) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV001420674] |
Chr5:90689926 [GRCh38] Chr5:89985743 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2781T>C (p.Ser927=) |
single nucleotide variant |
not provided [RCV001499030] |
Chr5:90644752 [GRCh38] Chr5:89940569 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18027A>G (p.Arg6009=) |
single nucleotide variant |
not provided [RCV001496479] |
Chr5:90985397 [GRCh38] Chr5:90281214 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14044-1G>A |
single nucleotide variant |
not provided [RCV001378420] |
Chr5:90790872 [GRCh38] Chr5:90086689 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.10161+7T>G |
single nucleotide variant |
not provided [RCV001400021] |
Chr5:90725663 [GRCh38] Chr5:90021480 [GRCh37] Chr5:5q14.3 |
likely benign |
NC_000005.9:g.(?_89968363)_(90111553_?)del |
deletion |
not provided [RCV001385475] |
Chr5:89968363..90111553 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.11793T>A (p.Pro3931=) |
single nucleotide variant |
not provided [RCV001502558] |
Chr5:90757014 [GRCh38] Chr5:90052831 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9907-16A>C |
single nucleotide variant |
not provided [RCV001519812] |
Chr5:90725070 [GRCh38] Chr5:90020887 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.9942C>T (p.Ala3314=) |
single nucleotide variant |
not provided [RCV001405332] |
Chr5:90725121 [GRCh38] Chr5:90020938 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8751A>G (p.Glu2917=) |
single nucleotide variant |
not provided [RCV001482611] |
Chr5:90708836 [GRCh38] Chr5:90004653 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9042+13dup |
duplication |
not provided [RCV001488587] |
Chr5:90711331..90711332 [GRCh38] Chr5:90007148..90007149 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5619C>T (p.Val1873=) |
single nucleotide variant |
not provided [RCV001455730] |
Chr5:90681409 [GRCh38] Chr5:89977226 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18651C>T (p.Ser6217=) |
single nucleotide variant |
not provided [RCV001436787] |
Chr5:91153247 [GRCh38] Chr5:90449064 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16401A>G (p.Glu5467=) |
single nucleotide variant |
not provided [RCV001403066] |
Chr5:90828976 [GRCh38] Chr5:90124793 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13231+156C>T |
single nucleotide variant |
not provided [RCV001538409] |
Chr5:90781734 [GRCh38] Chr5:90077551 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.7812C>G (p.Thr2604=) |
single nucleotide variant |
not provided [RCV001463265] |
Chr5:90694568 [GRCh38] Chr5:89990385 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3927C>A (p.Pro1309=) |
single nucleotide variant |
not provided [RCV001489065] |
Chr5:90653501 [GRCh38] Chr5:89949318 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15459A>G (p.Val5153=) |
single nucleotide variant |
not provided [RCV001491634] |
Chr5:90810719 [GRCh38] Chr5:90106536 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.663C>T (p.Leu221=) |
single nucleotide variant |
not provided [RCV001452734] |
Chr5:90625234 [GRCh38] Chr5:89921051 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13821A>C (p.Thr4607=) |
single nucleotide variant |
not provided [RCV001477131] |
Chr5:90788238 [GRCh38] Chr5:90084055 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12924A>G (p.Thr4308=) |
single nucleotide variant |
not provided [RCV001483166] |
Chr5:90778939 [GRCh38] Chr5:90074756 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13083-1G>A |
single nucleotide variant |
not provided [RCV001379320] |
Chr5:90781429 [GRCh38] Chr5:90077246 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.13284T>C (p.Thr4428=) |
single nucleotide variant |
not provided [RCV001463276] |
Chr5:90783176 [GRCh38] Chr5:90078993 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6954T>A (p.Val2318=) |
single nucleotide variant |
not provided [RCV001475837] |
Chr5:90692607 [GRCh38] Chr5:89988424 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11622C>T (p.Ile3874=) |
single nucleotide variant |
not provided [RCV001472249] |
Chr5:90756495 [GRCh38] Chr5:90052312 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3930C>T (p.Thr1310=) |
single nucleotide variant |
not provided [RCV001472269] |
Chr5:90653504 [GRCh38] Chr5:89949321 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16230C>G (p.Val5410=) |
single nucleotide variant |
not provided [RCV001493256] |
Chr5:90823458 [GRCh38] Chr5:90119275 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17784C>T (p.Ile5928=) |
single nucleotide variant |
not provided [RCV001453525] |
Chr5:90863785 [GRCh38] Chr5:90159602 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10162-19A>T |
single nucleotide variant |
not provided [RCV001513736] |
Chr5:90728650 [GRCh38] Chr5:90024467 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.5355T>C (p.Tyr1785=) |
single nucleotide variant |
not provided [RCV001504745] |
Chr5:90676121 [GRCh38] Chr5:89971938 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17868G>T (p.Leu5956=) |
single nucleotide variant |
not provided [RCV001416010] |
Chr5:90965426 [GRCh38] Chr5:90261243 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10974+1G>A |
single nucleotide variant |
Usher syndrome type 2C [RCV002272463]|not provided [RCV001376988] |
Chr5:90745796 [GRCh38] Chr5:90041613 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.1890C>T (p.Ser630=) |
single nucleotide variant |
not provided [RCV001493270] |
Chr5:90635164 [GRCh38] Chr5:89930981 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6744G>A (p.Glu2248=) |
single nucleotide variant |
not provided [RCV001493294] |
Chr5:90690834 [GRCh38] Chr5:89986651 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18858C>A (p.Gly6286=) |
single nucleotide variant |
not provided [RCV001419147] |
Chr5:91163837 [GRCh38] Chr5:90459654 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4308C>T (p.Ile1436=) |
single nucleotide variant |
not provided [RCV001452768] |
Chr5:90653882 [GRCh38] Chr5:89949699 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13913del (p.Pro4638fs) |
deletion |
not provided [RCV001384120] |
Chr5:90789719 [GRCh38] Chr5:90085536 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.207+8A>G |
single nucleotide variant |
not provided [RCV001461096] |
Chr5:90615027 [GRCh38] Chr5:89910844 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18456T>C (p.Tyr6152=) |
single nucleotide variant |
not provided [RCV001498654] |
Chr5:91150053 [GRCh38] Chr5:90445870 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16647C>T (p.Ile5549=) |
single nucleotide variant |
not provided [RCV001461163] |
Chr5:90840613 [GRCh38] Chr5:90136430 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7887A>G (p.Gly2629=) |
single nucleotide variant |
not provided [RCV001481617] |
Chr5:90694643 [GRCh38] Chr5:89990460 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.358-13G>A |
single nucleotide variant |
not provided [RCV001457191] |
Chr5:90619073 [GRCh38] Chr5:89914890 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4713_4716dup (p.Gly1573fs) |
duplication |
not provided [RCV001381983] |
Chr5:90658238..90658239 [GRCh38] Chr5:89954055..89954056 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16079-7T>C |
single nucleotide variant |
not provided [RCV001481188] |
Chr5:90815612 [GRCh38] Chr5:90111429 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14127G>A (p.Glu4709=) |
single nucleotide variant |
not provided [RCV001492047] |
Chr5:90790956 [GRCh38] Chr5:90086773 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15318T>C (p.Asp5106=) |
single nucleotide variant |
not provided [RCV001493678] |
Chr5:90810578 [GRCh38] Chr5:90106395 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17204+13dup |
duplication |
not provided [RCV001505256] |
Chr5:90848830..90848831 [GRCh38] Chr5:90144647..90144648 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18069del (p.Phe6023fs) |
deletion |
not provided [RCV001382157] |
Chr5:90985436 [GRCh38] Chr5:90281253 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.6174A>T (p.Ile2058=) |
single nucleotide variant |
not provided [RCV001445874]|not specified [RCV001701163] |
Chr5:90684095 [GRCh38] Chr5:89979912 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.36A>C (p.Ala12=) |
single nucleotide variant |
not provided [RCV001409296] |
Chr5:90614848 [GRCh38] Chr5:89910665 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6213C>G (p.Ser2071=) |
single nucleotide variant |
not provided [RCV001445958] |
Chr5:90684134 [GRCh38] Chr5:89979951 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4152G>A (p.Gly1384=) |
single nucleotide variant |
not provided [RCV001448480] |
Chr5:90653726 [GRCh38] Chr5:89949543 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5748C>T (p.Thr1916=) |
single nucleotide variant |
not provided [RCV001432646] |
Chr5:90683669 [GRCh38] Chr5:89979486 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16903C>T (p.Leu5635=) |
single nucleotide variant |
not provided [RCV001411941] |
Chr5:90840869 [GRCh38] Chr5:90136686 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2612del (p.Gly871fs) |
deletion |
not provided [RCV001389290] |
Chr5:90643859 [GRCh38] Chr5:89939676 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.6666C>G (p.Val2222=) |
single nucleotide variant |
not provided [RCV001445978] |
Chr5:90690036 [GRCh38] Chr5:89985853 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15966T>C (p.Pro5322=) |
single nucleotide variant |
not provided [RCV001407094] |
Chr5:90811226 [GRCh38] Chr5:90107043 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11694A>C (p.Ile3898=) |
single nucleotide variant |
not provided [RCV001443816] |
Chr5:90756567 [GRCh38] Chr5:90052384 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1650T>C (p.Asp550=) |
single nucleotide variant |
not provided [RCV001402157] |
Chr5:90629350 [GRCh38] Chr5:89925167 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14661+20G>T |
single nucleotide variant |
not provided [RCV001432643] |
Chr5:90802902 [GRCh38] Chr5:90098719 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13992dup (p.Leu4665fs) |
duplication |
not provided [RCV001389753] |
Chr5:90789799..90789800 [GRCh38] Chr5:90085616..90085617 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.8664T>C (p.Pro2888=) |
single nucleotide variant |
not provided [RCV001409815] |
Chr5:90706328 [GRCh38] Chr5:90002145 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18023_18026del (p.Arg6008fs) |
deletion |
not provided [RCV001383475] |
Chr5:90985393..90985396 [GRCh38] Chr5:90281210..90281213 [GRCh37] Chr5:5q14.3 |
pathogenic |
NC_000005.9:g.(?_89938453)_(89949769_?)dup |
duplication |
not provided [RCV001377865] |
Chr5:89938453..89949769 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.3289+1G>A |
single nucleotide variant |
not provided [RCV001377903] |
Chr5:90647765 [GRCh38] Chr5:89943582 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.17019+10T>G |
single nucleotide variant |
not provided [RCV001409764] |
Chr5:90840995 [GRCh38] Chr5:90136812 [GRCh37] Chr5:5q14.3 |
likely benign |
NC_000005.10:g.90904210_91123767del |
deletion |
Febrile seizures, familial, 4 [RCV001420642] |
Chr5:90904210..91123767 [GRCh38] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1758A>G (p.Pro586=) |
single nucleotide variant |
not provided [RCV001423580] |
Chr5:90629458 [GRCh38] Chr5:89925275 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18000G>A (p.Val6000=) |
single nucleotide variant |
not provided [RCV001418694] |
Chr5:90985370 [GRCh38] Chr5:90281187 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9504T>C (p.Val3168=) |
single nucleotide variant |
not provided [RCV001402249] |
Chr5:90720104 [GRCh38] Chr5:90015921 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.23-6T>C |
single nucleotide variant |
not provided [RCV001430815] |
Chr5:90614829 [GRCh38] Chr5:89910646 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11346G>A (p.Ala3782=) |
single nucleotide variant |
not provided [RCV001407636] |
Chr5:90753798 [GRCh38] Chr5:90049615 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6707-224C>A |
single nucleotide variant |
not provided [RCV001541410] |
Chr5:90690573 [GRCh38] Chr5:89986390 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.10457G>A (p.Trp3486Ter) |
single nucleotide variant |
not provided [RCV001380854] |
Chr5:90729672 [GRCh38] Chr5:90025489 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.2899-18G>A |
single nucleotide variant |
not provided [RCV001444297] |
Chr5:90645950 [GRCh38] Chr5:89941767 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.627T>G (p.Pro209=) |
single nucleotide variant |
not provided [RCV001399609] |
Chr5:90625198 [GRCh38] Chr5:89921015 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11247C>T (p.Asp3749=) |
single nucleotide variant |
not provided [RCV001407661] |
Chr5:90753699 [GRCh38] Chr5:90049516 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11826C>A (p.Val3942=) |
single nucleotide variant |
not provided [RCV001446833] |
Chr5:90757047 [GRCh38] Chr5:90052864 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15912A>T (p.Leu5304=) |
single nucleotide variant |
not provided [RCV001449450] |
Chr5:90811172 [GRCh38] Chr5:90106989 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14286A>G (p.Gly4762=) |
single nucleotide variant |
not provided [RCV001407833] |
Chr5:90791115 [GRCh38] Chr5:90086932 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10650T>C (p.Asp3550=) |
single nucleotide variant |
not provided [RCV001418590] |
Chr5:90745146 [GRCh38] Chr5:90040963 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11907A>G (p.Pro3969=) |
single nucleotide variant |
not provided [RCV001431257] |
Chr5:90757128 [GRCh38] Chr5:90052945 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11581-10C>T |
single nucleotide variant |
not provided [RCV001410679] |
Chr5:90756444 [GRCh38] Chr5:90052261 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1086dup (p.Leu363fs) |
duplication |
not provided [RCV001383472] |
Chr5:90627623..90627624 [GRCh38] Chr5:89923440..89923441 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.18384C>T (p.Tyr6128=) |
single nucleotide variant |
not provided [RCV001418735] |
Chr5:91102292 [GRCh38] Chr5:90398109 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8167del (p.Gln2723fs) |
deletion |
not provided [RCV001390551] |
Chr5:90703676 [GRCh38] Chr5:89999493 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.10770-14G>A |
single nucleotide variant |
not provided [RCV001393448] |
Chr5:90745577 [GRCh38] Chr5:90041394 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9042G>C (p.Met3014Ile) |
single nucleotide variant |
not provided [RCV001378418] |
Chr5:90711322 [GRCh38] Chr5:90007139 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.13893+1G>A |
single nucleotide variant |
not provided [RCV001378419] |
Chr5:90788311 [GRCh38] Chr5:90084128 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.11940+8A>C |
single nucleotide variant |
not provided [RCV001419204] |
Chr5:90757169 [GRCh38] Chr5:90052986 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13458T>C (p.Ile4486=) |
single nucleotide variant |
not provided [RCV001408110] |
Chr5:90783862 [GRCh38] Chr5:90079679 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14661+8G>C |
single nucleotide variant |
not provided [RCV001426724] |
Chr5:90802890 [GRCh38] Chr5:90098707 [GRCh37] Chr5:5q14.3 |
likely benign |
NC_000005.9:g.(?_90015865)_(90016040_?)del |
deletion |
not provided [RCV001385473] |
Chr5:90015865..90016040 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.10269T>C (p.Ile3423=) |
single nucleotide variant |
not provided [RCV001436542] |
Chr5:90728776 [GRCh38] Chr5:90024593 [GRCh37] Chr5:5q14.3 |
likely benign |
NC_000005.9:g.(?_90281161)_(90281339_?)del |
deletion |
not provided [RCV001385474] |
Chr5:90281161..90281339 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.17025T>C (p.Thr5675=) |
single nucleotide variant |
not provided [RCV001445143] |
Chr5:90848642 [GRCh38] Chr5:90144459 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10602G>C (p.Ser3534=) |
single nucleotide variant |
not provided [RCV001411130] |
Chr5:90745098 [GRCh38] Chr5:90040915 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15027T>C (p.Thr5009=) |
single nucleotide variant |
not provided [RCV001417792] |
Chr5:90810287 [GRCh38] Chr5:90106104 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5643G>C (p.Gly1881=) |
single nucleotide variant |
not provided [RCV001417793] |
Chr5:90681433 [GRCh38] Chr5:89977250 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4271_4272dup (p.Leu1425fs) |
duplication |
not provided [RCV001386799] |
Chr5:90653844..90653845 [GRCh38] Chr5:89949661..89949662 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.12120+1G>A |
single nucleotide variant |
not provided [RCV001379834] |
Chr5:90759589 [GRCh38] Chr5:90055406 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.13391del (p.Asn4464fs) |
deletion |
not provided [RCV001387642] |
Chr5:90783280 [GRCh38] Chr5:90079097 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1359T>C (p.Ser453=) |
single nucleotide variant |
not provided [RCV001447659] |
Chr5:90628682 [GRCh38] Chr5:89924499 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10410C>T (p.Ala3470=) |
single nucleotide variant |
not provided [RCV001447663] |
Chr5:90728917 [GRCh38] Chr5:90024734 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8387-8A>G |
single nucleotide variant |
not provided [RCV001447667] |
Chr5:90705392 [GRCh38] Chr5:90001209 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13560C>T (p.Leu4520=) |
single nucleotide variant |
not provided [RCV001437900] |
Chr5:90783964 [GRCh38] Chr5:90079781 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18025C>T (p.Arg6009Ter) |
single nucleotide variant |
not provided [RCV001381663] |
Chr5:90985395 [GRCh38] Chr5:90281212 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.18433-185_18433-181dup |
duplication |
not provided [RCV001534645] |
Chr5:91149831..91149832 [GRCh38] Chr5:90445648..90445649 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12096A>G (p.Gly4032=) |
single nucleotide variant |
not provided [RCV001424153] |
Chr5:90759564 [GRCh38] Chr5:90055381 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2899-19C>T |
single nucleotide variant |
not provided [RCV001404033] |
Chr5:90645949 [GRCh38] Chr5:89941766 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13506G>C (p.Val4502=) |
single nucleotide variant |
not provided [RCV001411057] |
Chr5:90783910 [GRCh38] Chr5:90079727 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1437G>A (p.Glu479=) |
single nucleotide variant |
not provided [RCV001447780] |
Chr5:90628760 [GRCh38] Chr5:89924577 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14820C>T (p.Asn4940=) |
single nucleotide variant |
not provided [RCV001425833] |
Chr5:90805442 [GRCh38] Chr5:90101259 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9777T>C (p.Phe3259=) |
single nucleotide variant |
not provided [RCV001419552] |
Chr5:90724860 [GRCh38] Chr5:90020677 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14958C>A (p.Gly4986=) |
single nucleotide variant |
not provided [RCV001419556] |
Chr5:90807723 [GRCh38] Chr5:90103540 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.776dup (p.Asn259fs) |
duplication |
not provided [RCV001387831] |
Chr5:90627309..90627310 [GRCh38] Chr5:89923126..89923127 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.9507C>T (p.Cys3169=) |
single nucleotide variant |
not provided [RCV001440550] |
Chr5:90720107 [GRCh38] Chr5:90015924 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3141_3142del (p.Asp1051fs) |
deletion |
not provided [RCV001381982] |
Chr5:90647616..90647617 [GRCh38] Chr5:89943433..89943434 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.7353G>A (p.Ala2451=) |
single nucleotide variant |
not provided [RCV001432162] |
Chr5:90694109 [GRCh38] Chr5:89989926 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16101C>T (p.Ile5367=) |
single nucleotide variant |
not provided [RCV001445585] |
Chr5:90815641 [GRCh38] Chr5:90111458 [GRCh37] Chr5:5q14.3 |
likely benign |
NC_000005.9:g.(?_89947461)_89965346del |
deletion |
not provided [RCV001378826] |
|
likely pathogenic |
NM_032119.4(ADGRV1):c.6086C>T (p.Pro2029Leu) |
single nucleotide variant |
Usher syndrome type 2C [RCV002476751]|not provided [RCV001427463] |
Chr5:90684007 [GRCh38] Chr5:89979824 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8567-10A>T |
single nucleotide variant |
not provided [RCV001419650] |
Chr5:90706221 [GRCh38] Chr5:90002038 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10975-7T>C |
single nucleotide variant |
not provided [RCV001438346] |
Chr5:90750544 [GRCh38] Chr5:90046361 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2574G>A (p.Val858=) |
single nucleotide variant |
not provided [RCV001440614] |
Chr5:90643823 [GRCh38] Chr5:89939640 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6706+218C>T |
single nucleotide variant |
not provided [RCV001572476] |
Chr5:90690294 [GRCh38] Chr5:89986111 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16302A>C (p.Ser5434=) |
single nucleotide variant |
not provided [RCV001424454] |
Chr5:90823530 [GRCh38] Chr5:90119347 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4872T>G (p.Val1624=) |
single nucleotide variant |
not provided [RCV001432101] |
Chr5:90672665 [GRCh38] Chr5:89968482 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11580+10_11580+11del |
deletion |
not provided [RCV001411541] |
Chr5:90755195..90755196 [GRCh38] Chr5:90051012..90051013 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12556_12559del (p.Glu4186fs) |
deletion |
not provided [RCV001387261] |
Chr5:90777931..90777934 [GRCh38] Chr5:90073748..90073751 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.11232A>G (p.Thr3744=) |
single nucleotide variant |
not provided [RCV001453918] |
Chr5:90753684 [GRCh38] Chr5:90049501 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1238+142AC[23] |
microsatellite |
not provided [RCV001725279] |
Chr5:90627917..90627918 [GRCh38] Chr5:89923734..89923735 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.669C>T (p.Asp223=) |
single nucleotide variant |
not provided [RCV001478841] |
Chr5:90625240 [GRCh38] Chr5:89921057 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5387C>G (p.Ser1796Cys) |
single nucleotide variant |
not provided [RCV001450442] |
Chr5:90676153 [GRCh38] Chr5:89971970 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.500T>C (p.Met167Thr) |
single nucleotide variant |
not provided [RCV001515281] |
Chr5:90622643 [GRCh38] Chr5:89918460 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.2523C>T (p.Thr841=) |
single nucleotide variant |
not provided [RCV001457809] |
Chr5:90643011 [GRCh38] Chr5:89938828 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18519G>A (p.Gly6173=) |
single nucleotide variant |
not provided [RCV001490274] |
Chr5:91150116 [GRCh38] Chr5:90445933 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5781G>A (p.Thr1927=) |
single nucleotide variant |
not provided [RCV001450474] |
Chr5:90683702 [GRCh38] Chr5:89979519 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12927G>C (p.Ala4309=) |
single nucleotide variant |
not provided [RCV001464687] |
Chr5:90778942 [GRCh38] Chr5:90074759 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11378-20G>A |
single nucleotide variant |
not provided [RCV001509652]|not specified [RCV001701175] |
Chr5:90754963 [GRCh38] Chr5:90050780 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.11122-303C>A |
single nucleotide variant |
not provided [RCV001714951] |
Chr5:90753271 [GRCh38] Chr5:90049088 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.18625-10A>C |
single nucleotide variant |
not provided [RCV001454453] |
Chr5:91153211 [GRCh38] Chr5:90449028 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2734+305C>T |
single nucleotide variant |
not provided [RCV001673829] |
Chr5:90644288 [GRCh38] Chr5:89940105 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.4753-274A>C |
single nucleotide variant |
not provided [RCV001655491] |
Chr5:90672272 [GRCh38] Chr5:89968089 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.17298G>A (p.Lys5766=) |
single nucleotide variant |
not provided [RCV001496081] |
Chr5:90853377 [GRCh38] Chr5:90149194 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1238+142AC[20] |
microsatellite |
not provided [RCV001615509] |
Chr5:90627918..90627921 [GRCh38] Chr5:89923735..89923738 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.9447+232A>G |
single nucleotide variant |
not provided [RCV001674843] |
Chr5:90716961 [GRCh38] Chr5:90012778 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.6952-8A>G |
single nucleotide variant |
not provided [RCV001469155] |
Chr5:90692597 [GRCh38] Chr5:89988414 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1206G>A (p.Arg402=) |
single nucleotide variant |
not provided [RCV001474000] |
Chr5:90627744 [GRCh38] Chr5:89923561 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18433-21_18433-12del |
deletion |
not provided [RCV001491293] |
Chr5:91150005..91150014 [GRCh38] Chr5:90445822..90445831 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1238+142AC[21] |
microsatellite |
not provided [RCV001679953] |
Chr5:90627918..90627919 [GRCh38] Chr5:89923735..89923736 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.10427-306T>G |
single nucleotide variant |
not provided [RCV001710037] |
Chr5:90729336 [GRCh38] Chr5:90025153 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.4379-154_4379-152del |
deletion |
not provided [RCV001617997] |
Chr5:90657751..90657753 [GRCh38] Chr5:89953568..89953570 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.6613C>T (p.Leu2205=) |
single nucleotide variant |
not provided [RCV001455343] |
Chr5:90689983 [GRCh38] Chr5:89985800 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13654-4G>A |
single nucleotide variant |
not provided [RCV001486688] |
Chr5:90788067 [GRCh38] Chr5:90083884 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10769+143G>A |
single nucleotide variant |
not provided [RCV001684396] |
Chr5:90745408 [GRCh38] Chr5:90041225 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.9748+324G>T |
single nucleotide variant |
not provided [RCV001615857] |
Chr5:90721383 [GRCh38] Chr5:90017200 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12285+190C>T |
single nucleotide variant |
not provided [RCV001716067] |
Chr5:90763659 [GRCh38] Chr5:90059476 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.3714C>G (p.Pro1238=) |
single nucleotide variant |
not provided [RCV001503502] |
Chr5:90653288 [GRCh38] Chr5:89949105 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11655T>C (p.Ser3885=) |
single nucleotide variant |
not provided [RCV001469601] |
Chr5:90756528 [GRCh38] Chr5:90052345 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12121-227A>G |
single nucleotide variant |
not provided [RCV001582227] |
Chr5:90763078 [GRCh38] Chr5:90058895 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10549+119del |
deletion |
not provided [RCV001527759] |
Chr5:90729871 [GRCh38] Chr5:90025688 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10162-92A>T |
single nucleotide variant |
not provided [RCV001589402] |
Chr5:90728577 [GRCh38] Chr5:90024394 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10161+19G>T |
single nucleotide variant |
not provided [RCV001470023] |
Chr5:90725675 [GRCh38] Chr5:90021492 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8730+21del |
deletion |
not provided [RCV001511567]|not specified [RCV001700762] |
Chr5:90706404 [GRCh38] Chr5:90002221 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.10549+261C>G |
single nucleotide variant |
not provided [RCV001538868] |
Chr5:90730025 [GRCh38] Chr5:90025842 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12379G>A (p.Glu4127Lys) |
single nucleotide variant |
not provided [RCV001528413] |
Chr5:90774279 [GRCh38] Chr5:90070096 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NC_000005.10:g.90558495C>G |
single nucleotide variant |
not provided [RCV001650066] |
Chr5:90558495 [GRCh38] Chr5:89854312 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.8700A>T (p.Thr2900=) |
single nucleotide variant |
not provided [RCV001727959]|not specified [RCV001700645] |
Chr5:90706364 [GRCh38] Chr5:90002181 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.13887A>G (p.Thr4629=) |
single nucleotide variant |
not provided [RCV001512434] |
Chr5:90788304 [GRCh38] Chr5:90084121 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.11976T>C (p.Asp3992=) |
single nucleotide variant |
not provided [RCV001483604] |
Chr5:90759444 [GRCh38] Chr5:90055261 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6275-182ATAA[10] |
microsatellite |
not provided [RCV001617388] |
Chr5:90685598..90685601 [GRCh38] Chr5:89981415..89981418 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.10054-13T>A |
single nucleotide variant |
not provided [RCV001476744] |
Chr5:90725536 [GRCh38] Chr5:90021353 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8370T>C (p.Tyr2790=) |
single nucleotide variant |
not provided [RCV001462850] |
Chr5:90704472 [GRCh38] Chr5:90000289 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7946-157_7946-156insCA |
insertion |
not provided [RCV001680435] |
Chr5:90696779..90696780 [GRCh38] Chr5:89992596..89992597 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.2017-253_2017-252del |
deletion |
not provided [RCV001694388] |
Chr5:90637471..90637472 [GRCh38] Chr5:89933288..89933289 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.14929C>T (p.Leu4977=) |
single nucleotide variant |
not provided [RCV001466559] |
Chr5:90807694 [GRCh38] Chr5:90103511 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17088T>C (p.Cys5696=) |
single nucleotide variant |
not provided [RCV001452748] |
Chr5:90848705 [GRCh38] Chr5:90144522 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13575T>C (p.Ile4525=) |
single nucleotide variant |
not provided [RCV001470796] |
Chr5:90783979 [GRCh38] Chr5:90079796 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2241-30G>A |
single nucleotide variant |
not provided [RCV001587031] |
Chr5:90642606 [GRCh38] Chr5:89938423 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17195C>T (p.Pro5732Leu) |
single nucleotide variant |
Idiopathic generalized epilepsy [RCV001581096] |
Chr5:90848812 [GRCh38] Chr5:90144629 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16293G>T (p.Gln5431His) |
single nucleotide variant |
not provided [RCV001587964] |
Chr5:90823521 [GRCh38] Chr5:90119338 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10427-83_10427-81del |
deletion |
not provided [RCV001650432] |
Chr5:90729557..90729559 [GRCh38] Chr5:90025374..90025376 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.5154C>T (p.Asp1718=) |
single nucleotide variant |
not provided [RCV001498004] |
Chr5:90675286 [GRCh38] Chr5:89971103 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6275-182ATAA[9] |
microsatellite |
not provided [RCV001665827] |
Chr5:90685598..90685605 [GRCh38] Chr5:89981415..89981422 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.6951+225dup |
duplication |
not provided [RCV001685857] |
Chr5:90691260..90691261 [GRCh38] Chr5:89987077..89987078 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.5110+49T>C |
single nucleotide variant |
not provided [RCV001687220] |
Chr5:90674283 [GRCh38] Chr5:89970100 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.8730+187C>T |
single nucleotide variant |
not provided [RCV001592081] |
Chr5:90706581 [GRCh38] Chr5:90002398 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9701C>T (p.Ala3234Val) |
single nucleotide variant |
not provided [RCV001460543] |
Chr5:90721012 [GRCh38] Chr5:90016829 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6930C>T (p.Asp2310=) |
single nucleotide variant |
not provided [RCV001460687] |
Chr5:90691020 [GRCh38] Chr5:89986837 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13654-239C>T |
single nucleotide variant |
not provided [RCV001714923] |
Chr5:90787832 [GRCh38] Chr5:90083649 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.2247C>T (p.Asn749=) |
single nucleotide variant |
not provided [RCV001514322] |
Chr5:90642642 [GRCh38] Chr5:89938459 [GRCh37] Chr5:5q14.3 |
benign|likely benign |
NM_032119.4(ADGRV1):c.13617G>T (p.Val4539=) |
single nucleotide variant |
not provided [RCV001471991] |
Chr5:90784021 [GRCh38] Chr5:90079838 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.558+286C>T |
single nucleotide variant |
not provided [RCV001587708] |
Chr5:90622987 [GRCh38] Chr5:89918804 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18152+291G>A |
single nucleotide variant |
not provided [RCV001530645] |
Chr5:90985813 [GRCh38] Chr5:90281630 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18433-17_18433-16insC |
insertion |
not provided [RCV001437974] |
Chr5:91150013..91150014 [GRCh38] Chr5:90445830..90445831 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8903+11G>A |
single nucleotide variant |
not provided [RCV001494658] |
Chr5:90711070 [GRCh38] Chr5:90006887 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8730+20_8730+21dup |
duplication |
not provided [RCV001512627] |
Chr5:90706403..90706404 [GRCh38] Chr5:90002220..90002221 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.16472G>A (p.Ser5491Asn) |
single nucleotide variant |
Usher syndrome type 2C [RCV002495723]|not provided [RCV001485717] |
Chr5:90829047 [GRCh38] Chr5:90124864 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7801C>T (p.Gln2601Ter) |
single nucleotide variant |
not provided [RCV001386903] |
Chr5:90694557 [GRCh38] Chr5:89990374 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.18152+17A>G |
single nucleotide variant |
not provided [RCV001479861] |
Chr5:90985539 [GRCh38] Chr5:90281356 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13893+20dup |
duplication |
not provided [RCV001520508] |
Chr5:90788325..90788326 [GRCh38] Chr5:90084142..90084143 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12456G>A (p.Gly4152=) |
single nucleotide variant |
not provided [RCV001504704] |
Chr5:90776505 [GRCh38] Chr5:90072322 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9594G>A (p.Gly3198=) |
single nucleotide variant |
not provided [RCV001450974] |
Chr5:90720194 [GRCh38] Chr5:90016011 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7133+9_7133+10del |
microsatellite |
not provided [RCV001481623] |
Chr5:90692793..90692794 [GRCh38] Chr5:89988610..89988611 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2478G>A (p.Thr826=) |
single nucleotide variant |
not provided [RCV001482098] |
Chr5:90642966 [GRCh38] Chr5:89938783 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8355C>T (p.Tyr2785=) |
single nucleotide variant |
not provided [RCV001468711] |
Chr5:90704457 [GRCh38] Chr5:90000274 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14658T>C (p.Ser4886=) |
single nucleotide variant |
not provided [RCV001468712] |
Chr5:90802879 [GRCh38] Chr5:90098696 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14496C>T (p.Asp4832=) |
single nucleotide variant |
not provided [RCV001461173] |
Chr5:90791325 [GRCh38] Chr5:90087142 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4338C>A (p.Pro1446=) |
single nucleotide variant |
not provided [RCV001461177] |
Chr5:90653912 [GRCh38] Chr5:89949729 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9447+9A>G |
single nucleotide variant |
not provided [RCV001481714] |
Chr5:90716738 [GRCh38] Chr5:90012555 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3990T>C (p.Phe1330=) |
single nucleotide variant |
not provided [RCV001483064] |
Chr5:90653564 [GRCh38] Chr5:89949381 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10977T>C (p.Asn3659=) |
single nucleotide variant |
not provided [RCV001486032] |
Chr5:90750553 [GRCh38] Chr5:90046370 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1506G>A (p.Ala502=) |
single nucleotide variant |
not provided [RCV001471105] |
Chr5:90628829 [GRCh38] Chr5:89924646 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4941A>C (p.Ile1647=) |
single nucleotide variant |
not provided [RCV001429466] |
Chr5:90674065 [GRCh38] Chr5:89969882 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12957A>C (p.Ala4319=) |
single nucleotide variant |
not provided [RCV001458903] |
Chr5:90778972 [GRCh38] Chr5:90074789 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18432+17G>T |
single nucleotide variant |
not provided [RCV001500428] |
Chr5:91102357 [GRCh38] Chr5:90398174 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5444-17dup |
duplication |
not provided [RCV001519811] |
Chr5:90679531..90679532 [GRCh38] Chr5:89975348..89975349 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.6700T>C (p.Leu2234=) |
single nucleotide variant |
not provided [RCV001511346] |
Chr5:90690070 [GRCh38] Chr5:89985887 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.7434del (p.Phe2479fs) |
deletion |
not provided [RCV001381925] |
Chr5:90694190 [GRCh38] Chr5:89990007 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.11577G>A (p.Leu3859=) |
single nucleotide variant |
not provided [RCV001496514] |
Chr5:90755182 [GRCh38] Chr5:90050999 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7239T>C (p.Ser2413=) |
single nucleotide variant |
not provided [RCV001478387] |
Chr5:90693995 [GRCh38] Chr5:89989812 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12785G>A (p.Ser4262Asn) |
single nucleotide variant |
not provided [RCV001417907] |
Chr5:90778545 [GRCh38] Chr5:90074362 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18762G>A (p.Glu6254=) |
single nucleotide variant |
not provided [RCV001499427] |
Chr5:91153358 [GRCh38] Chr5:90449175 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13200T>C (p.Ile4400=) |
single nucleotide variant |
not provided [RCV001461981] |
Chr5:90781547 [GRCh38] Chr5:90077364 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13545A>T (p.Gly4515=) |
single nucleotide variant |
not provided [RCV001436551] |
Chr5:90783949 [GRCh38] Chr5:90079766 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13590C>A (p.Pro4530=) |
single nucleotide variant |
not provided [RCV001425817] |
Chr5:90783994 [GRCh38] Chr5:90079811 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9426A>G (p.Leu3142=) |
single nucleotide variant |
not provided [RCV001420029] |
Chr5:90716708 [GRCh38] Chr5:90012525 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9184+19T>C |
single nucleotide variant |
not provided [RCV001397844] |
Chr5:90712447 [GRCh38] Chr5:90008264 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14073C>T (p.Asp4691=) |
single nucleotide variant |
not provided [RCV001463304] |
Chr5:90790902 [GRCh38] Chr5:90086719 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8112T>C (p.Ile2704=) |
single nucleotide variant |
not provided [RCV001418106] |
Chr5:90697103 [GRCh38] Chr5:89992920 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3621del (p.Leu1207_Val1208insTer) |
deletion |
not provided [RCV001385758] |
Chr5:90652549 [GRCh38] Chr5:89948366 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.3975G>A (p.Thr1325=) |
single nucleotide variant |
not provided [RCV001402253] |
Chr5:90653549 [GRCh38] Chr5:89949366 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11115A>G (p.Ser3705=) |
single nucleotide variant |
not provided [RCV001402356] |
Chr5:90750691 [GRCh38] Chr5:90046508 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14967A>G (p.Gln4989=) |
single nucleotide variant |
not provided [RCV001436595] |
Chr5:90807732 [GRCh38] Chr5:90103549 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17922T>G (p.Ala5974=) |
single nucleotide variant |
not provided [RCV001400170] |
Chr5:90965480 [GRCh38] Chr5:90261297 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2805C>T (p.Asp935=) |
single nucleotide variant |
not provided [RCV001463382] |
Chr5:90644776 [GRCh38] Chr5:89940593 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3957G>A (p.Arg1319=) |
single nucleotide variant |
not provided [RCV001456194] |
Chr5:90653531 [GRCh38] Chr5:89949348 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18152+1G>A |
single nucleotide variant |
not provided [RCV001377205] |
Chr5:90985523 [GRCh38] Chr5:90281340 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.3430C>T (p.Arg1144Ter) |
single nucleotide variant |
not provided [RCV001386049] |
Chr5:90652359 [GRCh38] Chr5:89948176 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16230C>T (p.Val5410=) |
single nucleotide variant |
not provided [RCV001415931] |
Chr5:90823458 [GRCh38] Chr5:90119275 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6490+8_6490+9insGTTCATATGGAACCAAAAAAGAGCCCGCATCGCCAAGGCAATCCTAAGCCAAAACAACAAAGCTGG |
insertion |
not provided [RCV001415988] |
Chr5:90686003..90686004 [GRCh38] Chr5:89981820..89981821 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2553+7G>A |
single nucleotide variant |
not provided [RCV001402150] |
Chr5:90643048 [GRCh38] Chr5:89938865 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14916C>T (p.Ala4972=) |
single nucleotide variant |
not provided [RCV001420023] |
Chr5:90807681 [GRCh38] Chr5:90103498 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.22+17G>A |
single nucleotide variant |
not provided [RCV001476742] |
Chr5:90558934 [GRCh38] Chr5:89854751 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1239-1G>T |
single nucleotide variant |
not provided [RCV001378988] |
Chr5:90628561 [GRCh38] Chr5:89924378 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.17967C>T (p.Leu5989=) |
single nucleotide variant |
not provided [RCV001466477] |
Chr5:90965525 [GRCh38] Chr5:90261342 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4017T>C (p.Thr1339=) |
single nucleotide variant |
not provided [RCV001454839] |
Chr5:90653591 [GRCh38] Chr5:89949408 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9595C>T (p.Leu3199=) |
single nucleotide variant |
not provided [RCV001505604] |
Chr5:90720195 [GRCh38] Chr5:90016012 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13332T>C (p.Ser4444=) |
single nucleotide variant |
not provided [RCV001505625] |
Chr5:90783224 [GRCh38] Chr5:90079041 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5524+2T>C |
single nucleotide variant |
not provided [RCV001377384] |
Chr5:90679631 [GRCh38] Chr5:89975448 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.8100T>C (p.Asn2700=) |
single nucleotide variant |
not provided [RCV001416377] |
Chr5:90697091 [GRCh38] Chr5:89992908 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10539C>G (p.Ala3513=) |
single nucleotide variant |
not provided [RCV001441495] |
Chr5:90729754 [GRCh38] Chr5:90025571 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2106G>T (p.Val702=) |
single nucleotide variant |
not provided [RCV001456444] |
Chr5:90637814 [GRCh38] Chr5:89933631 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8730+9_8730+10insCT |
insertion |
not provided [RCV001463781] |
Chr5:90706403..90706404 [GRCh38] Chr5:90002220..90002221 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8832A>G (p.Glu2944=) |
single nucleotide variant |
not provided [RCV001419100] |
Chr5:90710988 [GRCh38] Chr5:90006805 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16614G>A (p.Glu5538=) |
single nucleotide variant |
not provided [RCV001428136] |
Chr5:90840580 [GRCh38] Chr5:90136397 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10038_10039delinsGC (p.Phe3347Leu) |
indel |
not provided [RCV001495155] |
Chr5:90725217..90725218 [GRCh38] Chr5:90021034..90021035 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10032A>G (p.Thr3344=) |
single nucleotide variant |
not provided [RCV001485541] |
Chr5:90725211 [GRCh38] Chr5:90021028 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2304A>G (p.Glu768=) |
single nucleotide variant |
not provided [RCV001416902] |
Chr5:90642699 [GRCh38] Chr5:89938516 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15126_15128del (p.Tyr5042_Gln5043delinsTer) |
deletion |
not provided [RCV001390168] |
Chr5:90810385..90810387 [GRCh38] Chr5:90106202..90106204 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.18552C>T (p.Pro6184=) |
single nucleotide variant |
not provided [RCV001482610] |
Chr5:91150149 [GRCh38] Chr5:90445966 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11001A>G (p.Glu3667=) |
single nucleotide variant |
not provided [RCV001424936] |
Chr5:90750577 [GRCh38] Chr5:90046394 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3807C>T (p.Phe1269=) |
single nucleotide variant |
not provided [RCV001424939] |
Chr5:90653381 [GRCh38] Chr5:89949198 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13893+202del |
deletion |
not provided [RCV002280530] |
Chr5:90788505 [GRCh38] Chr5:90084322 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10549+25A>C |
single nucleotide variant |
not provided [RCV002248224] |
Chr5:90729789 [GRCh38] Chr5:90025606 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12925G>C (p.Ala4309Pro) |
single nucleotide variant |
not provided [RCV001755655] |
Chr5:90778940 [GRCh38] Chr5:90074757 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6127G>A (p.Ala2043Thr) |
single nucleotide variant |
not provided [RCV003108369] |
Chr5:90684048 [GRCh38] Chr5:89979865 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18542T>G (p.Phe6181Cys) |
single nucleotide variant |
not provided [RCV001755289] |
Chr5:91150139 [GRCh38] Chr5:90445956 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18533G>A (p.Ser6178Asn) |
single nucleotide variant |
not provided [RCV001755316] |
Chr5:91150130 [GRCh38] Chr5:90445947 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2794G>T (p.Val932Phe) |
single nucleotide variant |
not provided [RCV002248226] |
Chr5:90644765 [GRCh38] Chr5:89940582 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16849A>G (p.Ile5617Val) |
single nucleotide variant |
not provided [RCV001755586] |
Chr5:90840815 [GRCh38] Chr5:90136632 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13714A>G (p.Ile4572Val) |
single nucleotide variant |
not provided [RCV001755617] |
Chr5:90788131 [GRCh38] Chr5:90083948 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5479G>A (p.Gly1827Ser) |
single nucleotide variant |
not provided [RCV001755620] |
Chr5:90679584 [GRCh38] Chr5:89975401 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13017T>A (p.Asp4339Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002540697]|not provided [RCV001755570] |
Chr5:90779032 [GRCh38] Chr5:90074849 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13653+6T>C |
single nucleotide variant |
not provided [RCV001727327] |
Chr5:90784063 [GRCh38] Chr5:90079880 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14315C>A (p.Ser4772Ter) |
single nucleotide variant |
Usher syndrome type 2C [RCV001728012] |
Chr5:90791144 [GRCh38] Chr5:90086961 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.12437G>A (p.Arg4146Gln) |
single nucleotide variant |
not provided [RCV001755443] |
Chr5:90776486 [GRCh38] Chr5:90072303 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1476A>G (p.Ile492Met) |
single nucleotide variant |
not provided [RCV001755659] |
Chr5:90628799 [GRCh38] Chr5:89924616 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13255A>G (p.Met4419Val) |
single nucleotide variant |
not specified [RCV002246894] |
Chr5:90783147 [GRCh38] Chr5:90078964 [GRCh37] Chr5:5q14.3 |
benign |
GRCh37/hg19 5q14.3(chr5:90271761-90326129)x1 |
copy number loss |
not provided [RCV001834275] |
Chr5:90271761..90326129 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NC_000005.9:g.(89914999_89918413)_(89954096_89968362)del |
deletion |
Usher syndrome [RCV002271853] |
Chr5:89918413..89954096 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.12054_12057del (p.Val4018_Val4019insTer) |
deletion |
not provided [RCV001783400] |
Chr5:90759522..90759525 [GRCh38] Chr5:90055339..90055342 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.2289C>A (p.Asp763Glu) |
single nucleotide variant |
not provided [RCV001776692] |
Chr5:90642684 [GRCh38] Chr5:89938501 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4441C>T (p.Gln1481Ter) |
single nucleotide variant |
not provided [RCV002255008] |
Chr5:90657967 [GRCh38] Chr5:89953784 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.17441C>T (p.Thr5814Ile) |
single nucleotide variant |
not provided [RCV001777057] |
Chr5:90853520 [GRCh38] Chr5:90149337 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7133+3A>G |
single nucleotide variant |
not provided [RCV001757279] |
Chr5:90692789 [GRCh38] Chr5:89988606 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7130G>A (p.Arg2377Gln) |
single nucleotide variant |
Usher syndrome [RCV002274207]|not provided [RCV001885143]|not specified [RCV001779545] |
Chr5:90692783 [GRCh38] Chr5:89988600 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_032119.4(ADGRV1):c.14862_14866del (p.Gln4955fs) |
deletion |
not provided [RCV001783398] |
Chr5:90807626..90807630 [GRCh38] Chr5:90103443..90103447 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.15391G>T (p.Ala5131Ser) |
single nucleotide variant |
not provided [RCV001769945] |
Chr5:90810651 [GRCh38] Chr5:90106468 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NC_000005.9:g.(89941909_89943314)_(89943582_89947420)del |
deletion |
not specified [RCV001732830] |
Chr5:89943314..89943582 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12485T>C (p.Ile4162Thr) |
single nucleotide variant |
not provided [RCV001767941] |
Chr5:90776534 [GRCh38] Chr5:90072351 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.559-45T>C |
single nucleotide variant |
not provided [RCV001786138] |
Chr5:90625085 [GRCh38] Chr5:89920902 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8748del (p.Glu2917fs) |
deletion |
not provided [RCV001785895] |
Chr5:90708833 [GRCh38] Chr5:90004650 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.16232C>A (p.Thr5411Lys) |
single nucleotide variant |
not provided [RCV001768331] |
Chr5:90823460 [GRCh38] Chr5:90119277 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8591C>G (p.Thr2864Arg) |
single nucleotide variant |
not provided [RCV001768361] |
Chr5:90706255 [GRCh38] Chr5:90002072 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6274+50A>G |
single nucleotide variant |
not provided [RCV001779802] |
Chr5:90684245 [GRCh38] Chr5:89980062 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18214C>T (p.Leu6072Phe) |
single nucleotide variant |
not provided [RCV001768019] |
Chr5:91072508 [GRCh38] Chr5:90368325 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.15698T>C (p.Met5233Thr) |
single nucleotide variant |
not provided [RCV001768057] |
Chr5:90810958 [GRCh38] Chr5:90106775 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.4189T>C (p.Ser1397Pro) |
single nucleotide variant |
not provided [RCV001776447] |
Chr5:90653763 [GRCh38] Chr5:89949580 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17582A>T (p.Gln5861Leu) |
single nucleotide variant |
not provided [RCV001776503] |
Chr5:90854189 [GRCh38] Chr5:90150006 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6430G>A (p.Gly2144Arg) |
single nucleotide variant |
not provided [RCV001768407] |
Chr5:90685935 [GRCh38] Chr5:89981752 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14071G>A (p.Asp4691Asn) |
single nucleotide variant |
not provided [RCV002001435] |
Chr5:90790900 [GRCh38] Chr5:90086717 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6797G>A (p.Gly2266Asp) |
single nucleotide variant |
not provided [RCV001769936] |
Chr5:90690887 [GRCh38] Chr5:89986704 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.11519A>T (p.Glu3840Val) |
single nucleotide variant |
not provided [RCV001757528] |
Chr5:90755124 [GRCh38] Chr5:90050941 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2242G>T (p.Val748Phe) |
single nucleotide variant |
not provided [RCV001776805] |
Chr5:90642637 [GRCh38] Chr5:89938454 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18863T>C (p.Leu6288Ser) |
single nucleotide variant |
not provided [RCV001753361] |
Chr5:91163842 [GRCh38] Chr5:90459659 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NC_000005.9:g.(89988604_89989706)_(90074915_90077246)del |
deletion |
Usher syndrome [RCV001797940] |
Chr5:89989706..90074915 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NC_000005.9:g.(90150019_90151557)_(90151719_90159573)del |
deletion |
Usher syndrome [RCV001797941] |
Chr5:90151557..90151719 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.12767A>T (p.Asn4256Ile) |
single nucleotide variant |
not provided [RCV001758903] |
Chr5:90778527 [GRCh38] Chr5:90074344 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.453+30T>C |
single nucleotide variant |
not provided [RCV001776326] |
Chr5:90619211 [GRCh38] Chr5:89915028 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8287-28G>A |
single nucleotide variant |
not provided [RCV001776342] |
Chr5:90704361 [GRCh38] Chr5:90000178 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15319G>A (p.Val5107Ile) |
single nucleotide variant |
not provided [RCV001758988] |
Chr5:90810579 [GRCh38] Chr5:90106396 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9425del (p.Val3141_Leu3142insTer) |
deletion |
not provided [RCV001783399] |
Chr5:90716704 [GRCh38] Chr5:90012521 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.7664A>G (p.Lys2555Arg) |
single nucleotide variant |
not provided [RCV001794584] |
Chr5:90694420 [GRCh38] Chr5:89990237 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.12120+36G>A |
single nucleotide variant |
not provided [RCV001794809] |
Chr5:90759624 [GRCh38] Chr5:90055441 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11585A>G (p.Asp3862Gly) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV001799556] |
Chr5:90756458 [GRCh38] Chr5:90052275 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18087A>G (p.Ile6029Met) |
single nucleotide variant |
not provided [RCV001757391] |
Chr5:90985457 [GRCh38] Chr5:90281274 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6410T>G (p.Ile2137Ser) |
single nucleotide variant |
not provided [RCV001757387] |
Chr5:90685915 [GRCh38] Chr5:89981732 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3168A>C (p.Glu1056Asp) |
single nucleotide variant |
not provided [RCV001757531] |
Chr5:90647643 [GRCh38] Chr5:89943460 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17402G>C (p.Ser5801Thr) |
single nucleotide variant |
not provided [RCV001757321] |
Chr5:90853481 [GRCh38] Chr5:90149298 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.514A>T (p.Ile172Phe) |
single nucleotide variant |
Usher syndrome type 2C [RCV001733740] |
Chr5:90622657 [GRCh38] Chr5:89918474 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4575C>A (p.Phe1525Leu) |
single nucleotide variant |
not provided [RCV001757523] |
Chr5:90658101 [GRCh38] Chr5:89953918 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14353A>G (p.Ile4785Val) |
single nucleotide variant |
not provided [RCV001757746] |
Chr5:90791182 [GRCh38] Chr5:90086999 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.14837-40G>T |
single nucleotide variant |
not provided [RCV001753277] |
Chr5:90807562 [GRCh38] Chr5:90103379 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7030G>T (p.Ala2344Ser) |
single nucleotide variant |
Usher syndrome type 2C [RCV002489843]|not provided [RCV001797546] |
Chr5:90692683 [GRCh38] Chr5:89988500 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8286+4A>G |
single nucleotide variant |
not provided [RCV001755675] |
Chr5:90703799 [GRCh38] Chr5:89999616 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.673-140del |
deletion |
not provided [RCV001777029] |
Chr5:90627070 [GRCh38] Chr5:89922887 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18608T>C (p.Ile6203Thr) |
single nucleotide variant |
not provided [RCV001757551] |
Chr5:91150205 [GRCh38] Chr5:90446022 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2503G>A (p.Glu835Lys) |
single nucleotide variant |
not provided [RCV001776889] |
Chr5:90642991 [GRCh38] Chr5:89938808 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4444G>A (p.Asp1482Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002540672]|not provided [RCV001759256] |
Chr5:90657970 [GRCh38] Chr5:89953787 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.506T>C (p.Leu169Pro) |
single nucleotide variant |
not provided [RCV001814796] |
Chr5:90622649 [GRCh38] Chr5:89918466 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1955T>C (p.Ile652Thr) |
single nucleotide variant |
not provided [RCV001806471] |
Chr5:90635229 [GRCh38] Chr5:89931046 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11997G>C (p.Glu3999Asp) |
single nucleotide variant |
not provided [RCV001889061] |
Chr5:90759465 [GRCh38] Chr5:90055282 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.559G>A (p.Val187Ile) |
single nucleotide variant |
not provided [RCV001874303] |
Chr5:90625130 [GRCh38] Chr5:89920947 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4250A>C (p.Lys1417Thr) |
single nucleotide variant |
not provided [RCV001896529] |
Chr5:90653824 [GRCh38] Chr5:89949641 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12211del (p.Arg4071fs) |
deletion |
not provided [RCV001929879] |
Chr5:90763394 [GRCh38] Chr5:90059211 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.7609_7610del (p.Ser2537fs) |
microsatellite |
not provided [RCV001946655] |
Chr5:90694362..90694363 [GRCh38] Chr5:89990179..89990180 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.4752+2T>G |
single nucleotide variant |
Usher syndrome type 2C [RCV001822892] |
Chr5:90658280 [GRCh38] Chr5:89954097 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.1054C>A (p.Pro352Thr) |
single nucleotide variant |
not provided [RCV002008880] |
Chr5:90627592 [GRCh38] Chr5:89923409 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.13313C>T (p.Ser4438Phe) |
single nucleotide variant |
not provided [RCV001864431] |
Chr5:90783205 [GRCh38] Chr5:90079022 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6303G>C (p.Lys2101Asn) |
single nucleotide variant |
not provided [RCV001987767] |
Chr5:90685808 [GRCh38] Chr5:89981625 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6490+8_6490+9insGTTCATATGGAACCAAAAAAGAGCCCGCATCGCCAAGGCAATCCTAAGCCAAAACAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTANNNNNNNNNAAAAAA |
insertion |
not provided [RCV001987852] |
Chr5:90686000..90686001 [GRCh38] Chr5:89981817..89981818 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7610del (p.Ser2537fs) |
deletion |
Usher syndrome type 2C [RCV001822877] |
Chr5:90694366 [GRCh38] Chr5:89990183 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.7124dup (p.Arg2376fs) |
duplication |
not provided [RCV001895726] |
Chr5:90692776..90692777 [GRCh38] Chr5:89988593..89988594 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.9906G>A (p.Glu3302=) |
single nucleotide variant |
not provided [RCV001970829] |
Chr5:90724989 [GRCh38] Chr5:90020806 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7945+9T>C |
single nucleotide variant |
not provided [RCV001837157] |
Chr5:90694710 [GRCh38] Chr5:89990527 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5670A>G (p.Ile1890Met) |
single nucleotide variant |
not provided [RCV002045299] |
Chr5:90683591 [GRCh38] Chr5:89979408 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9155C>T (p.Pro3052Leu) |
single nucleotide variant |
not provided [RCV001950372] |
Chr5:90712399 [GRCh38] Chr5:90008216 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11547_11550del (p.Ile3849fs) |
deletion |
not provided [RCV001864441] |
Chr5:90755152..90755155 [GRCh38] Chr5:90050969..90050972 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.18502A>G (p.Thr6168Ala) |
single nucleotide variant |
not provided [RCV001863494] |
Chr5:91150099 [GRCh38] Chr5:90445916 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8945C>T (p.Ala2982Val) |
single nucleotide variant |
not provided [RCV001874109] |
Chr5:90711225 [GRCh38] Chr5:90007042 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14774G>T (p.Gly4925Val) |
single nucleotide variant |
not provided [RCV002008527] |
Chr5:90805396 [GRCh38] Chr5:90101213 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17152A>G (p.Asn5718Asp) |
single nucleotide variant |
not provided [RCV001874511] |
Chr5:90848769 [GRCh38] Chr5:90144586 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16963G>T (p.Val5655Leu) |
single nucleotide variant |
not provided [RCV002045634] |
Chr5:90840929 [GRCh38] Chr5:90136746 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10916C>G (p.Ser3639Cys) |
single nucleotide variant |
not provided [RCV001971578] |
Chr5:90745737 [GRCh38] Chr5:90041554 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17455-2A>T |
single nucleotide variant |
not provided [RCV002045738] |
Chr5:90854060 [GRCh38] Chr5:90149877 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.6637G>C (p.Ala2213Pro) |
single nucleotide variant |
not provided [RCV001896948] |
Chr5:90690007 [GRCh38] Chr5:89985824 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3443G>T (p.Gly1148Val) |
single nucleotide variant |
not provided [RCV002041914] |
Chr5:90652372 [GRCh38] Chr5:89948189 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9120T>G (p.Asp3040Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003355566]|not provided [RCV002044698] |
Chr5:90712364 [GRCh38] Chr5:90008181 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15785T>A (p.Phe5262Tyr) |
single nucleotide variant |
not provided [RCV001929767] |
Chr5:90811045 [GRCh38] Chr5:90106862 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1913A>G (p.Asn638Ser) |
single nucleotide variant |
not provided [RCV002045642] |
Chr5:90635187 [GRCh38] Chr5:89931004 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.2389C>T (p.His797Tyr) |
single nucleotide variant |
not provided [RCV001988675] |
Chr5:90642877 [GRCh38] Chr5:89938694 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.453+10C>G |
single nucleotide variant |
not provided [RCV001930029] |
Chr5:90619191 [GRCh38] Chr5:89915008 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.358-7_358-4del |
deletion |
not provided [RCV002006381] |
Chr5:90619076..90619079 [GRCh38] Chr5:89914893..89914896 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14971C>T (p.Arg4991Ter) |
single nucleotide variant |
not provided [RCV001987726] |
Chr5:90807736 [GRCh38] Chr5:90103553 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.18138del (p.Ile6047fs) |
deletion |
not provided [RCV001929601] |
Chr5:90985508 [GRCh38] Chr5:90281325 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.13434-5T>A |
single nucleotide variant |
not provided [RCV001864155] |
Chr5:90783833 [GRCh38] Chr5:90079650 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9838T>C (p.Tyr3280His) |
single nucleotide variant |
not provided [RCV002025613] |
Chr5:90724921 [GRCh38] Chr5:90020738 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9953G>T (p.Gly3318Val) |
single nucleotide variant |
not provided [RCV001971690] |
Chr5:90725132 [GRCh38] Chr5:90020949 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11788G>T (p.Val3930Leu) |
single nucleotide variant |
not provided [RCV002045830] |
Chr5:90757009 [GRCh38] Chr5:90052826 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8954G>A (p.Ser2985Asn) |
single nucleotide variant |
not provided [RCV002042848] |
Chr5:90711234 [GRCh38] Chr5:90007051 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11434A>G (p.Ile3812Val) |
single nucleotide variant |
not provided [RCV001864157] |
Chr5:90755039 [GRCh38] Chr5:90050856 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16958T>C (p.Met5653Thr) |
single nucleotide variant |
not provided [RCV001988673] |
Chr5:90840924 [GRCh38] Chr5:90136741 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18513G>A (p.Met6171Ile) |
single nucleotide variant |
not provided [RCV001988342] |
Chr5:91150110 [GRCh38] Chr5:90445927 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16041dup (p.Thr5348fs) |
duplication |
not provided [RCV001874698] |
Chr5:90811300..90811301 [GRCh38] Chr5:90107117..90107118 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.18800C>T (p.Thr6267Ile) |
single nucleotide variant |
not provided [RCV002045499] |
Chr5:91153396 [GRCh38] Chr5:90449213 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1451T>G (p.Leu484Arg) |
single nucleotide variant |
not provided [RCV001969042] |
Chr5:90628774 [GRCh38] Chr5:89924591 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2977G>A (p.Ala993Thr) |
single nucleotide variant |
not provided [RCV002007823] |
Chr5:90646046 [GRCh38] Chr5:89941863 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3323C>T (p.Thr1108Ile) |
single nucleotide variant |
not provided [RCV001873942] |
Chr5:90651637 [GRCh38] Chr5:89947454 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10955G>T (p.Gly3652Val) |
single nucleotide variant |
not provided [RCV001970928] |
Chr5:90745776 [GRCh38] Chr5:90041593 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3125A>G (p.Asp1042Gly) |
single nucleotide variant |
not provided [RCV001971442] |
Chr5:90647600 [GRCh38] Chr5:89943417 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12082G>A (p.Asp4028Asn) |
single nucleotide variant |
not provided [RCV001927465] |
Chr5:90759550 [GRCh38] Chr5:90055367 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4891A>G (p.Ser1631Gly) |
single nucleotide variant |
not provided [RCV002001481] |
Chr5:90672684 [GRCh38] Chr5:89968501 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.9703G>A (p.Val3235Met) |
single nucleotide variant |
not provided [RCV001988364] |
Chr5:90721014 [GRCh38] Chr5:90016831 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7576A>C (p.Ile2526Leu) |
single nucleotide variant |
not provided [RCV002045371] |
Chr5:90694332 [GRCh38] Chr5:89990149 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.11995G>A (p.Glu3999Lys) |
single nucleotide variant |
not provided [RCV001987126] |
Chr5:90759463 [GRCh38] Chr5:90055280 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12575G>C (p.Arg4192Thr) |
single nucleotide variant |
not provided [RCV001864036] |
Chr5:90777952 [GRCh38] Chr5:90073769 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12275A>G (p.His4092Arg) |
single nucleotide variant |
not provided [RCV001950117] |
Chr5:90763459 [GRCh38] Chr5:90059276 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11580+6T>C |
single nucleotide variant |
not provided [RCV002045525] |
Chr5:90755191 [GRCh38] Chr5:90051008 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3476A>G (p.Asn1159Ser) |
single nucleotide variant |
not provided [RCV002045526] |
Chr5:90652405 [GRCh38] Chr5:89948222 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10492T>A (p.Ser3498Thr) |
single nucleotide variant |
not provided [RCV001949122] |
Chr5:90729707 [GRCh38] Chr5:90025524 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13099A>G (p.Ile4367Val) |
single nucleotide variant |
not provided [RCV001874116] |
Chr5:90781446 [GRCh38] Chr5:90077263 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3818G>A (p.Arg1273Lys) |
single nucleotide variant |
not provided [RCV001983987] |
Chr5:90653392 [GRCh38] Chr5:89949209 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15853C>G (p.Leu5285Val) |
single nucleotide variant |
not provided [RCV001893234] |
Chr5:90811113 [GRCh38] Chr5:90106930 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18601A>C (p.Asn6201His) |
single nucleotide variant |
not provided [RCV001894388]|not specified [RCV003317538] |
Chr5:91150198 [GRCh38] Chr5:90446015 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.7511A>G (p.Glu2504Gly) |
single nucleotide variant |
not provided [RCV002008646] |
Chr5:90694267 [GRCh38] Chr5:89990084 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2036G>A (p.Arg679Gln) |
single nucleotide variant |
not provided [RCV001914782] |
Chr5:90637744 [GRCh38] Chr5:89933561 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4753-4T>C |
single nucleotide variant |
not provided [RCV001864053] |
Chr5:90672542 [GRCh38] Chr5:89968359 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16085A>C (p.Asp5362Ala) |
single nucleotide variant |
not provided [RCV002009137] |
Chr5:90815625 [GRCh38] Chr5:90111442 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5302G>A (p.Glu1768Lys) |
single nucleotide variant |
not provided [RCV001913978] |
Chr5:90675434 [GRCh38] Chr5:89971251 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6188T>C (p.Leu2063Ser) |
single nucleotide variant |
not provided [RCV001984009] |
Chr5:90684109 [GRCh38] Chr5:89979926 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2468A>G (p.Tyr823Cys) |
single nucleotide variant |
not provided [RCV001910718] |
Chr5:90642956 [GRCh38] Chr5:89938773 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.202G>T (p.Val68Leu) |
single nucleotide variant |
not provided [RCV001872435] |
Chr5:90615014 [GRCh38] Chr5:89910831 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11487A>G (p.Gln3829=) |
single nucleotide variant |
not provided [RCV001950135] |
Chr5:90755092 [GRCh38] Chr5:90050909 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15115A>G (p.Lys5039Glu) |
single nucleotide variant |
not provided [RCV001872599] |
Chr5:90810375 [GRCh38] Chr5:90106192 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6553G>T (p.Val2185Leu) |
single nucleotide variant |
not provided [RCV001913347] |
Chr5:90689923 [GRCh38] Chr5:89985740 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7076A>T (p.Tyr2359Phe) |
single nucleotide variant |
not provided [RCV001988701] |
Chr5:90692729 [GRCh38] Chr5:89988546 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2239A>G (p.Arg747Gly) |
single nucleotide variant |
not provided [RCV001890689] |
Chr5:90637947 [GRCh38] Chr5:89933764 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11272C>A (p.Gln3758Lys) |
single nucleotide variant |
not provided [RCV001927849] |
Chr5:90753724 [GRCh38] Chr5:90049541 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14950G>T (p.Ala4984Ser) |
single nucleotide variant |
not provided [RCV002043752] |
Chr5:90807715 [GRCh38] Chr5:90103532 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.5620A>C (p.Ser1874Arg) |
single nucleotide variant |
not provided [RCV002043770] |
Chr5:90681410 [GRCh38] Chr5:89977227 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2633T>C (p.Ile878Thr) |
single nucleotide variant |
not provided [RCV002024624] |
Chr5:90643882 [GRCh38] Chr5:89939699 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18264G>C (p.Gln6088His) |
single nucleotide variant |
not provided [RCV001914249] |
Chr5:91072558 [GRCh38] Chr5:90368375 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3931A>G (p.Thr1311Ala) |
single nucleotide variant |
Usher syndrome type 2C [RCV002507669]|not provided [RCV001987856] |
Chr5:90653505 [GRCh38] Chr5:89949322 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6610C>T (p.Gln2204Ter) |
single nucleotide variant |
Usher syndrome type 2C [RCV002442931]|not provided [RCV001988069] |
Chr5:90689980 [GRCh38] Chr5:89985797 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.14246T>C (p.Ile4749Thr) |
single nucleotide variant |
not provided [RCV001971193] |
Chr5:90791075 [GRCh38] Chr5:90086892 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17470G>A (p.Val5824Met) |
single nucleotide variant |
not provided [RCV001988567] |
Chr5:90854077 [GRCh38] Chr5:90149894 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18089T>C (p.Val6030Ala) |
single nucleotide variant |
not provided [RCV001984718] |
Chr5:90985459 [GRCh38] Chr5:90281276 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1186A>G (p.Asn396Asp) |
single nucleotide variant |
not provided [RCV001872811] |
Chr5:90627724 [GRCh38] Chr5:89923541 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.7534A>G (p.Ile2512Val) |
single nucleotide variant |
not provided [RCV001971196] |
Chr5:90694290 [GRCh38] Chr5:89990107 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.733A>G (p.Ile245Val) |
single nucleotide variant |
not provided [RCV001864254] |
Chr5:90627271 [GRCh38] Chr5:89923088 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8931T>G (p.Ser2977Arg) |
single nucleotide variant |
not provided [RCV002009024] |
Chr5:90711211 [GRCh38] Chr5:90007028 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8816C>A (p.Pro2939His) |
single nucleotide variant |
not provided [RCV001914397] |
Chr5:90708901 [GRCh38] Chr5:90004718 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5368A>G (p.Ile1790Val) |
single nucleotide variant |
not provided [RCV002039973] |
Chr5:90676134 [GRCh38] Chr5:89971951 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.7447A>T (p.Arg2483Trp) |
single nucleotide variant |
not provided [RCV002040134] |
Chr5:90694203 [GRCh38] Chr5:89990020 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9809G>A (p.Trp3270Ter) |
single nucleotide variant |
not provided [RCV002040124] |
Chr5:90724892 [GRCh38] Chr5:90020709 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.2504A>C (p.Glu835Ala) |
single nucleotide variant |
not provided [RCV002041977] |
Chr5:90642992 [GRCh38] Chr5:89938809 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.628G>T (p.Gly210Cys) |
single nucleotide variant |
not provided [RCV002039968] |
Chr5:90625199 [GRCh38] Chr5:89921016 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16698G>T (p.Leu5566Phe) |
single nucleotide variant |
not provided [RCV001910955] |
Chr5:90840664 [GRCh38] Chr5:90136481 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7945+5G>A |
single nucleotide variant |
not provided [RCV001892886] |
Chr5:90694706 [GRCh38] Chr5:89990523 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5857A>G (p.Ser1953Gly) |
single nucleotide variant |
not provided [RCV001964920]|not specified [RCV002246601] |
Chr5:90683778 [GRCh38] Chr5:89979595 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.878T>G (p.Leu293Arg) |
single nucleotide variant |
not provided [RCV001965017] |
Chr5:90627416 [GRCh38] Chr5:89923233 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15136G>T (p.Ala5046Ser) |
single nucleotide variant |
not provided [RCV001945166] |
Chr5:90810396 [GRCh38] Chr5:90106213 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7536A>G (p.Ile2512Met) |
single nucleotide variant |
not provided [RCV001969063] |
Chr5:90694292 [GRCh38] Chr5:89990109 [GRCh37] Chr5:5q14.3 |
uncertain significance |
GRCh37/hg19 5q14.2-14.3(chr5:82185951-90110454) |
copy number loss |
not specified [RCV002053507] |
Chr5:82185951..90110454 [GRCh37] Chr5:5q14.2-14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.3184A>G (p.Ile1062Val) |
single nucleotide variant |
not provided [RCV002040126] |
Chr5:90647659 [GRCh38] Chr5:89943476 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10619C>T (p.Ser3540Phe) |
single nucleotide variant |
not provided [RCV001983206] |
Chr5:90745115 [GRCh38] Chr5:90040932 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10931T>C (p.Ile3644Thr) |
single nucleotide variant |
not provided [RCV002005330] |
Chr5:90745752 [GRCh38] Chr5:90041569 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.673-2A>G |
single nucleotide variant |
not provided [RCV002020536] |
Chr5:90627209 [GRCh38] Chr5:89923026 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.12775del (p.Val4259fs) |
deletion |
not provided [RCV001891551] |
Chr5:90778534 [GRCh38] Chr5:90074351 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.4930G>C (p.Val1644Leu) |
single nucleotide variant |
not provided [RCV002004989] |
Chr5:90674054 [GRCh38] Chr5:89969871 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7535T>C (p.Ile2512Thr) |
single nucleotide variant |
not provided [RCV001983611] |
Chr5:90694291 [GRCh38] Chr5:89990108 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3054G>C (p.Glu1018Asp) |
single nucleotide variant |
not provided [RCV001911594] |
Chr5:90647529 [GRCh38] Chr5:89943346 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13765G>T (p.Val4589Leu) |
single nucleotide variant |
not provided [RCV002005650] |
Chr5:90788182 [GRCh38] Chr5:90083999 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11833G>A (p.Ala3945Thr) |
single nucleotide variant |
not provided [RCV002005897] |
Chr5:90757054 [GRCh38] Chr5:90052871 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18310+1G>A |
single nucleotide variant |
not provided [RCV001983624] |
Chr5:91072605 [GRCh38] Chr5:90368422 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.4141A>G (p.Ile1381Val) |
single nucleotide variant |
not provided [RCV001908122] |
Chr5:90653715 [GRCh38] Chr5:89949532 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7337A>G (p.Glu2446Gly) |
single nucleotide variant |
not provided [RCV001965822] |
Chr5:90694093 [GRCh38] Chr5:89989910 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6514T>C (p.Ser2172Pro) |
single nucleotide variant |
Usher syndrome type 2C [RCV001822893] |
Chr5:90689884 [GRCh38] Chr5:89985701 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11497A>G (p.Asn3833Asp) |
single nucleotide variant |
not provided [RCV001870898] |
Chr5:90755102 [GRCh38] Chr5:90050919 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16197-118dup |
duplication |
not provided [RCV001840860] |
Chr5:90823306..90823307 [GRCh38] Chr5:90119123..90119124 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5140C>T (p.Pro1714Ser) |
single nucleotide variant |
not provided [RCV001910460] |
Chr5:90675272 [GRCh38] Chr5:89971089 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3868A>G (p.Ser1290Gly) |
single nucleotide variant |
not provided [RCV001965972] |
Chr5:90653442 [GRCh38] Chr5:89949259 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7097A>G (p.Glu2366Gly) |
single nucleotide variant |
not provided [RCV001966777] |
Chr5:90692750 [GRCh38] Chr5:89988567 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6934G>A (p.Val2312Ile) |
single nucleotide variant |
not provided [RCV001945726] |
Chr5:90691024 [GRCh38] Chr5:89986841 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16061C>A (p.Ala5354Asp) |
single nucleotide variant |
not provided [RCV001964588] |
Chr5:90811321 [GRCh38] Chr5:90107138 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1271G>C (p.Gly424Ala) |
single nucleotide variant |
not provided [RCV001983801] |
Chr5:90628594 [GRCh38] Chr5:89924411 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13312del (p.Ser4438fs) |
deletion |
not provided [RCV001912137] |
Chr5:90783204 [GRCh38] Chr5:90079021 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.15205C>A (p.Gln5069Lys) |
single nucleotide variant |
not provided [RCV002002726] |
Chr5:90810465 [GRCh38] Chr5:90106282 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18038T>C (p.Phe6013Ser) |
single nucleotide variant |
not provided [RCV002004451] |
Chr5:90985408 [GRCh38] Chr5:90281225 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2204C>T (p.Pro735Leu) |
single nucleotide variant |
not provided [RCV001946261] |
Chr5:90637912 [GRCh38] Chr5:89933729 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6458del (p.Lys2153fs) |
deletion |
not provided [RCV001870936] |
Chr5:90685962 [GRCh38] Chr5:89981779 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.4781G>T (p.Cys1594Phe) |
single nucleotide variant |
not provided [RCV001945846] |
Chr5:90672574 [GRCh38] Chr5:89968391 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6189G>A (p.Leu2063=) |
single nucleotide variant |
not provided [RCV002041076] |
Chr5:90684110 [GRCh38] Chr5:89979927 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.16197-1G>A |
single nucleotide variant |
not provided [RCV001966961] |
Chr5:90823424 [GRCh38] Chr5:90119241 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.12403+5G>A |
single nucleotide variant |
not provided [RCV001926440] |
Chr5:90774308 [GRCh38] Chr5:90070125 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9188T>C (p.Leu3063Ser) |
single nucleotide variant |
not provided [RCV001984092] |
Chr5:90716470 [GRCh38] Chr5:90012287 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13088A>G (p.Tyr4363Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002545204]|not provided [RCV001825283] |
Chr5:90781435 [GRCh38] Chr5:90077252 [GRCh37] Chr5:5q14.3 |
uncertain significance|not provided |
NM_032119.4(ADGRV1):c.14044-19T>G |
single nucleotide variant |
not provided [RCV001911884] |
Chr5:90790854 [GRCh38] Chr5:90086671 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6808G>C (p.Val2270Leu) |
single nucleotide variant |
not provided [RCV002042185] |
Chr5:90690898 [GRCh38] Chr5:89986715 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.1825C>A (p.His609Asn) |
single nucleotide variant |
not provided [RCV001926770] |
Chr5:90629525 [GRCh38] Chr5:89925342 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8432C>A (p.Ala2811Glu) |
single nucleotide variant |
not provided [RCV002005830] |
Chr5:90705445 [GRCh38] Chr5:90001262 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18575G>A (p.Gly6192Glu) |
single nucleotide variant |
not provided [RCV001946009] |
Chr5:91150172 [GRCh38] Chr5:90445989 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2059A>G (p.Thr687Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002564428]|not provided [RCV001985573] |
Chr5:90637767 [GRCh38] Chr5:89933584 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3706G>T (p.Asp1236Tyr) |
single nucleotide variant |
not provided [RCV002003173] |
Chr5:90653280 [GRCh38] Chr5:89949097 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18500A>T (p.Tyr6167Phe) |
single nucleotide variant |
not provided [RCV002039688] |
Chr5:91150097 [GRCh38] Chr5:90445914 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9202G>T (p.Ala3068Ser) |
single nucleotide variant |
not provided [RCV002041219]|not specified [RCV003402066] |
Chr5:90716484 [GRCh38] Chr5:90012301 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17230C>T (p.Pro5744Ser) |
single nucleotide variant |
not provided [RCV001890503] |
Chr5:90853309 [GRCh38] Chr5:90149126 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10493C>T (p.Ser3498Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002555721]|not provided [RCV001909472] |
Chr5:90729708 [GRCh38] Chr5:90025525 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.212A>G (p.Tyr71Cys) |
single nucleotide variant |
not provided [RCV001909496] |
Chr5:90617808 [GRCh38] Chr5:89913625 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.13592A>G (p.Asn4531Ser) |
single nucleotide variant |
not provided [RCV001912310] |
Chr5:90783996 [GRCh38] Chr5:90079813 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2417T>C (p.Val806Ala) |
single nucleotide variant |
not provided [RCV002039918] |
Chr5:90642905 [GRCh38] Chr5:89938722 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.548T>G (p.Val183Gly) |
single nucleotide variant |
not provided [RCV001968745] |
Chr5:90622691 [GRCh38] Chr5:89918508 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7310A>G (p.Tyr2437Cys) |
single nucleotide variant |
not provided [RCV002002289] |
Chr5:90694066 [GRCh38] Chr5:89989883 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13048dup (p.Ser4350fs) |
duplication |
not provided [RCV001927080] |
Chr5:90779059..90779060 [GRCh38] Chr5:90074876..90074877 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1580A>G (p.Lys527Arg) |
single nucleotide variant |
not provided [RCV002024308] |
Chr5:90629280 [GRCh38] Chr5:89925097 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15118G>A (p.Val5040Ile) |
single nucleotide variant |
not provided [RCV001863357] |
Chr5:90810378 [GRCh38] Chr5:90106195 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15742A>T (p.Thr5248Ser) |
single nucleotide variant |
not provided [RCV002041334] |
Chr5:90811002 [GRCh38] Chr5:90106819 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10699G>A (p.Ala3567Thr) |
single nucleotide variant |
not provided [RCV002023633] |
Chr5:90745195 [GRCh38] Chr5:90041012 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2699T>C (p.Met900Thr) |
single nucleotide variant |
not provided [RCV001927771] |
Chr5:90643948 [GRCh38] Chr5:89939765 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3628A>C (p.Ile1210Leu) |
single nucleotide variant |
not provided [RCV001986932] |
Chr5:90652557 [GRCh38] Chr5:89948374 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6382C>T (p.Arg2128Ter) |
single nucleotide variant |
not provided [RCV001949441] |
Chr5:90685887 [GRCh38] Chr5:89981704 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.9709G>T (p.Val3237Leu) |
single nucleotide variant |
not provided [RCV001985926] |
Chr5:90721020 [GRCh38] Chr5:90016837 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1061T>C (p.Ile354Thr) |
single nucleotide variant |
not provided [RCV001987626] |
Chr5:90627599 [GRCh38] Chr5:89923416 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14675C>A (p.Ser4892Tyr) |
single nucleotide variant |
not provided [RCV001985201] |
Chr5:90805297 [GRCh38] Chr5:90101114 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4774A>G (p.Ile1592Val) |
single nucleotide variant |
not provided [RCV002020418] |
Chr5:90672567 [GRCh38] Chr5:89968384 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2059A>T (p.Thr687Ser) |
single nucleotide variant |
not provided [RCV001969493] |
Chr5:90637767 [GRCh38] Chr5:89933584 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13106A>G (p.Glu4369Gly) |
single nucleotide variant |
not provided [RCV001872552] |
Chr5:90781453 [GRCh38] Chr5:90077270 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17849G>A (p.Gly5950Asp) |
single nucleotide variant |
not provided [RCV001948858] |
Chr5:90863850 [GRCh38] Chr5:90159667 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5461del (p.Val1821fs) |
deletion |
not provided [RCV001949472] |
Chr5:90679564 [GRCh38] Chr5:89975381 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.505C>T (p.Leu169Phe) |
single nucleotide variant |
not provided [RCV001967828] |
Chr5:90622648 [GRCh38] Chr5:89918465 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.367G>A (p.Ala123Thr) |
single nucleotide variant |
not provided [RCV002043026] |
Chr5:90619095 [GRCh38] Chr5:89914912 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6679G>A (p.Ala2227Thr) |
single nucleotide variant |
not provided [RCV001872579] |
Chr5:90690049 [GRCh38] Chr5:89985866 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15843G>T (p.Gly5281=) |
single nucleotide variant |
not provided [RCV001986996] |
Chr5:90811103 [GRCh38] Chr5:90106920 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.1013A>G (p.His338Arg) |
single nucleotide variant |
not provided [RCV001872976] |
Chr5:90627551 [GRCh38] Chr5:89923368 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12361C>T (p.Gln4121Ter) |
single nucleotide variant |
not provided [RCV002007596] |
Chr5:90774261 [GRCh38] Chr5:90070078 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.10550-1G>A |
single nucleotide variant |
not provided [RCV001970231] |
Chr5:90745045 [GRCh38] Chr5:90040862 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1145C>A (p.Thr382Asn) |
single nucleotide variant |
not provided [RCV001914283] |
Chr5:90627683 [GRCh38] Chr5:89923500 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.10142A>G (p.Asp3381Gly) |
single nucleotide variant |
not provided [RCV002040351] |
Chr5:90725637 [GRCh38] Chr5:90021454 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.15026C>G (p.Thr5009Ser) |
single nucleotide variant |
not provided [RCV001870739] |
Chr5:90810286 [GRCh38] Chr5:90106103 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6882T>A (p.Phe2294Leu) |
single nucleotide variant |
not provided [RCV001948837] |
Chr5:90690972 [GRCh38] Chr5:89986789 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.491A>T (p.Asn164Ile) |
single nucleotide variant |
not provided [RCV001948549] |
Chr5:90622634 [GRCh38] Chr5:89918451 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11059C>T (p.Arg3687Cys) |
single nucleotide variant |
not provided [RCV002001806] |
Chr5:90750635 [GRCh38] Chr5:90046452 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6589C>A (p.Leu2197Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002592626]|not provided [RCV001983595] |
Chr5:90689959 [GRCh38] Chr5:89985776 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7828A>T (p.Ile2610Leu) |
single nucleotide variant |
not provided [RCV001908234] |
Chr5:90694584 [GRCh38] Chr5:89990401 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8471dup (p.Val2825fs) |
duplication |
not provided [RCV001910327] |
Chr5:90705482..90705483 [GRCh38] Chr5:90001299..90001300 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.12553G>A (p.Gly4185Arg) |
single nucleotide variant |
not provided [RCV001911561] |
Chr5:90777930 [GRCh38] Chr5:90073747 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4762G>A (p.Glu1588Lys) |
single nucleotide variant |
not provided [RCV001914055] |
Chr5:90672555 [GRCh38] Chr5:89968372 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10663A>G (p.Thr3555Ala) |
single nucleotide variant |
not provided [RCV001963841] |
Chr5:90745159 [GRCh38] Chr5:90040976 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9948T>A (p.Asn3316Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003348772]|not provided [RCV002024450] |
Chr5:90725127 [GRCh38] Chr5:90020944 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.18850G>A (p.Glu6284Lys) |
single nucleotide variant |
not provided [RCV001964681] |
Chr5:91163829 [GRCh38] Chr5:90459646 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9851T>C (p.Leu3284Ser) |
single nucleotide variant |
not provided [RCV001889814] |
Chr5:90724934 [GRCh38] Chr5:90020751 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13240G>A (p.Asp4414Asn) |
single nucleotide variant |
not provided [RCV001965095] |
Chr5:90783132 [GRCh38] Chr5:90078949 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12868C>T (p.Arg4290Cys) |
single nucleotide variant |
not provided [RCV001965117] |
Chr5:90778883 [GRCh38] Chr5:90074700 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2902C>A (p.Pro968Thr) |
single nucleotide variant |
not provided [RCV001984001] |
Chr5:90645971 [GRCh38] Chr5:89941788 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8838dup (p.Thr2947fs) |
duplication |
Usher syndrome type 2C [RCV001822878] |
Chr5:90710993..90710994 [GRCh38] Chr5:90006810..90006811 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.15492C>A (p.Ser5164Arg) |
single nucleotide variant |
Usher syndrome type 2C [RCV001822947] |
Chr5:90810752 [GRCh38] Chr5:90106569 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10007C>T (p.Ser3336Phe) |
single nucleotide variant |
not provided [RCV001947369] |
Chr5:90725186 [GRCh38] Chr5:90021003 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.2357A>G (p.Tyr786Cys) |
single nucleotide variant |
not provided [RCV002002586] |
Chr5:90642752 [GRCh38] Chr5:89938569 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13144A>G (p.Asn4382Asp) |
single nucleotide variant |
not provided [RCV001891975] |
Chr5:90781491 [GRCh38] Chr5:90077308 [GRCh37] Chr5:5q14.3 |
uncertain significance |
GRCh37/hg19 5q14.3(chr5:89720318-90293526)x3 |
copy number gain |
not provided [RCV001836503] |
Chr5:89720318..90293526 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3163G>C (p.Val1055Leu) |
single nucleotide variant |
not provided [RCV001984427] |
Chr5:90647638 [GRCh38] Chr5:89943455 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16363G>A (p.Glu5455Lys) |
single nucleotide variant |
not provided [RCV002005601] |
Chr5:90823591 [GRCh38] Chr5:90119408 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11836G>A (p.Gly3946Arg) |
single nucleotide variant |
not provided [RCV002007703] |
Chr5:90757057 [GRCh38] Chr5:90052874 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6269G>A (p.Arg2090His) |
single nucleotide variant |
not provided [RCV001909134] |
Chr5:90684190 [GRCh38] Chr5:89980007 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.14599del (p.Thr4867fs) |
deletion |
not provided [RCV001911172] |
Chr5:90802819 [GRCh38] Chr5:90098636 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.4196A>C (p.His1399Pro) |
single nucleotide variant |
not provided [RCV001985593] |
Chr5:90653770 [GRCh38] Chr5:89949587 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5053A>G (p.Ile1685Val) |
single nucleotide variant |
not provided [RCV002022682] |
Chr5:90674177 [GRCh38] Chr5:89969994 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8962C>A (p.Pro2988Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003303511]|not provided [RCV001968558] |
Chr5:90711242 [GRCh38] Chr5:90007059 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11206A>C (p.Ile3736Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002555749]|not provided [RCV001913537] |
Chr5:90753658 [GRCh38] Chr5:90049475 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9196G>T (p.Val3066Phe) |
single nucleotide variant |
not provided [RCV002022084] |
Chr5:90716478 [GRCh38] Chr5:90012295 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.113A>G (p.Gln38Arg) |
single nucleotide variant |
not provided [RCV001873106] |
Chr5:90614925 [GRCh38] Chr5:89910742 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.10689G>T (p.Lys3563Asn) |
single nucleotide variant |
not provided [RCV002007743] |
Chr5:90745185 [GRCh38] Chr5:90041002 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3245C>A (p.Pro1082Gln) |
single nucleotide variant |
not provided [RCV002008076] |
Chr5:90647720 [GRCh38] Chr5:89943537 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2035C>T (p.Arg679Trp) |
single nucleotide variant |
not provided [RCV002039465] |
Chr5:90637743 [GRCh38] Chr5:89933560 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15886G>C (p.Glu5296Gln) |
single nucleotide variant |
not provided [RCV001984209] |
Chr5:90811146 [GRCh38] Chr5:90106963 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.259A>G (p.Ile87Val) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV001837245] |
Chr5:90617855 [GRCh38] Chr5:89913672 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3033A>G (p.Val1011=) |
single nucleotide variant |
not provided [RCV001892591] |
Chr5:90647508 [GRCh38] Chr5:89943325 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NC_000005.9:g.(?_89989687)_(90000325_?)del |
deletion |
not provided [RCV001946995] |
Chr5:89989687..90000325 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.7703T>C (p.Val2568Ala) |
single nucleotide variant |
not provided [RCV002007751] |
Chr5:90694459 [GRCh38] Chr5:89990276 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7255C>T (p.Pro2419Ser) |
single nucleotide variant |
Usher syndrome type 2C [RCV001822935] |
Chr5:90694011 [GRCh38] Chr5:89989828 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9659C>T (p.Thr3220Ile) |
single nucleotide variant |
not provided [RCV001890951] |
Chr5:90720970 [GRCh38] Chr5:90016787 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15188T>C (p.Leu5063Pro) |
single nucleotide variant |
not provided [RCV001967585] |
Chr5:90810448 [GRCh38] Chr5:90106265 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14840G>T (p.Ser4947Ile) |
single nucleotide variant |
not provided [RCV002003332] |
Chr5:90807605 [GRCh38] Chr5:90103422 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14720T>C (p.Val4907Ala) |
single nucleotide variant |
not provided [RCV002022432] |
Chr5:90805342 [GRCh38] Chr5:90101159 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7820A>T (p.Glu2607Val) |
single nucleotide variant |
not provided [RCV002022875] |
Chr5:90694576 [GRCh38] Chr5:89990393 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13549A>C (p.Ile4517Leu) |
single nucleotide variant |
not provided [RCV001892162] |
Chr5:90783953 [GRCh38] Chr5:90079770 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10549+5G>A |
single nucleotide variant |
not provided [RCV001984120] |
Chr5:90729769 [GRCh38] Chr5:90025586 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2657C>A (p.Pro886His) |
single nucleotide variant |
not provided [RCV002007045] |
Chr5:90643906 [GRCh38] Chr5:89939723 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9961C>T (p.Pro3321Ser) |
single nucleotide variant |
not provided [RCV001967983] |
Chr5:90725140 [GRCh38] Chr5:90020957 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11423T>G (p.Leu3808Arg) |
single nucleotide variant |
not provided [RCV002022504] |
Chr5:90755028 [GRCh38] Chr5:90050845 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.2908G>A (p.Glu970Lys) |
single nucleotide variant |
not provided [RCV001986054] |
Chr5:90645977 [GRCh38] Chr5:89941794 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.220G>A (p.Asp74Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002571329]|not provided [RCV001969224] |
Chr5:90617816 [GRCh38] Chr5:89913633 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4645T>C (p.Tyr1549His) |
single nucleotide variant |
not provided [RCV001986756] |
Chr5:90658171 [GRCh38] Chr5:89953988 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5928T>A (p.Tyr1976Ter) |
single nucleotide variant |
not provided [RCV002007376] |
Chr5:90683849 [GRCh38] Chr5:89979666 [GRCh37] Chr5:5q14.3 |
pathogenic |
NC_000005.9:g.(?_90368244)_(90398177_?)del |
deletion |
not provided [RCV001871098] |
Chr5:90368244..90398177 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.12078A>C (p.Gln4026His) |
single nucleotide variant |
not provided [RCV002006143] |
Chr5:90759546 [GRCh38] Chr5:90055363 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.358-14G>A |
single nucleotide variant |
not provided [RCV001986361] |
Chr5:90619072 [GRCh38] Chr5:89914889 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12632G>A (p.Arg4211Gln) |
single nucleotide variant |
not provided [RCV001894826] |
Chr5:90778009 [GRCh38] Chr5:90073826 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.2746G>A (p.Val916Ile) |
single nucleotide variant |
not provided [RCV001985663] |
Chr5:90644717 [GRCh38] Chr5:89940534 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1618A>T (p.Ser540Cys) |
single nucleotide variant |
not provided [RCV001967234] |
Chr5:90629318 [GRCh38] Chr5:89925135 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15759C>T (p.Gly5253=) |
single nucleotide variant |
not provided [RCV002003667] |
Chr5:90811019 [GRCh38] Chr5:90106836 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.1445C>T (p.Ala482Val) |
single nucleotide variant |
not provided [RCV002043697] |
Chr5:90628768 [GRCh38] Chr5:89924585 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.17888C>G (p.Pro5963Arg) |
single nucleotide variant |
not provided [RCV001908040] |
Chr5:90965446 [GRCh38] Chr5:90261263 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7382C>T (p.Pro2461Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002543268]|not provided [RCV001840936] |
Chr5:90694138 [GRCh38] Chr5:89989955 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4301G>T (p.Gly1434Val) |
single nucleotide variant |
not provided [RCV001947468] |
Chr5:90653875 [GRCh38] Chr5:89949692 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3095T>A (p.Val1032Glu) |
single nucleotide variant |
not provided [RCV001985612] |
Chr5:90647570 [GRCh38] Chr5:89943387 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16385T>C (p.Val5462Ala) |
single nucleotide variant |
not provided [RCV002040960] |
Chr5:90828960 [GRCh38] Chr5:90124777 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4007C>A (p.Ala1336Glu) |
single nucleotide variant |
not provided [RCV001889558] |
Chr5:90653581 [GRCh38] Chr5:89949398 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13523C>G (p.Ala4508Gly) |
single nucleotide variant |
not provided [RCV001969275] |
Chr5:90783927 [GRCh38] Chr5:90079744 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11473C>G (p.His3825Asp) |
single nucleotide variant |
not provided [RCV001910766] |
Chr5:90755078 [GRCh38] Chr5:90050895 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17188G>A (p.Gly5730Ser) |
single nucleotide variant |
not provided [RCV001908392] |
Chr5:90848805 [GRCh38] Chr5:90144622 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12535C>T (p.Arg4179Ter) |
single nucleotide variant |
not provided [RCV001891330] |
Chr5:90777912 [GRCh38] Chr5:90073729 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.8243A>G (p.Glu2748Gly) |
single nucleotide variant |
not provided [RCV002023746] |
Chr5:90703752 [GRCh38] Chr5:89999569 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10784T>G (p.Ile3595Arg) |
single nucleotide variant |
not provided [RCV002039286] |
Chr5:90745605 [GRCh38] Chr5:90041422 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16264G>T (p.Asp5422Tyr) |
single nucleotide variant |
not provided [RCV001891403] |
Chr5:90823492 [GRCh38] Chr5:90119309 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2553+4T>G |
single nucleotide variant |
not provided [RCV002043715] |
Chr5:90643045 [GRCh38] Chr5:89938862 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5098G>C (p.Asp1700His) |
single nucleotide variant |
not provided [RCV001913436] |
Chr5:90674222 [GRCh38] Chr5:89970039 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12184C>T (p.Arg4062Trp) |
single nucleotide variant |
Usher syndrome type 2C [RCV002484790]|not provided [RCV002004845] |
Chr5:90763368 [GRCh38] Chr5:90059185 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6629C>G (p.Thr2210Arg) |
single nucleotide variant |
not provided [RCV001966574] |
Chr5:90689999 [GRCh38] Chr5:89985816 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14704G>C (p.Ala4902Pro) |
single nucleotide variant |
not provided [RCV002020872] |
Chr5:90805326 [GRCh38] Chr5:90101143 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2354C>T (p.Pro785Leu) |
single nucleotide variant |
not provided [RCV001909486] |
Chr5:90642749 [GRCh38] Chr5:89938566 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15876A>C (p.Glu5292Asp) |
single nucleotide variant |
not provided [RCV002040822] |
Chr5:90811136 [GRCh38] Chr5:90106953 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.2477C>T (p.Thr826Met) |
single nucleotide variant |
not provided [RCV001943889] |
Chr5:90642965 [GRCh38] Chr5:89938782 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.16078+5A>G |
single nucleotide variant |
not provided [RCV001897757] |
Chr5:90811343 [GRCh38] Chr5:90107160 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11258G>T (p.Gly3753Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002564405]|not provided [RCV001951632] |
Chr5:90753710 [GRCh38] Chr5:90049527 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9492T>G (p.Asp3164Glu) |
single nucleotide variant |
not provided [RCV001993612] |
Chr5:90720092 [GRCh38] Chr5:90015909 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.8323G>C (p.Asp2775His) |
single nucleotide variant |
not provided [RCV001923670] |
Chr5:90704425 [GRCh38] Chr5:90000242 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9254dup (p.Leu3086fs) |
duplication |
not provided [RCV001941789] |
Chr5:90716531..90716532 [GRCh38] Chr5:90012348..90012349 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.10157C>T (p.Thr3386Ile) |
single nucleotide variant |
not provided [RCV001919139] |
Chr5:90725652 [GRCh38] Chr5:90021469 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14553A>G (p.Gln4851=) |
single nucleotide variant |
not provided [RCV001925564] |
Chr5:90802774 [GRCh38] Chr5:90098591 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.16147G>T (p.Gly5383Ter) |
single nucleotide variant |
not provided [RCV002037639] |
Chr5:90815687 [GRCh38] Chr5:90111504 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.550A>G (p.Thr184Ala) |
single nucleotide variant |
not provided [RCV001963734] |
Chr5:90622693 [GRCh38] Chr5:89918510 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14511G>T (p.Lys4837Asn) |
single nucleotide variant |
not provided [RCV001944481] |
Chr5:90791340 [GRCh38] Chr5:90087157 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2735-20T>G |
single nucleotide variant |
not provided [RCV001980582] |
Chr5:90644686 [GRCh38] Chr5:89940503 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1355G>A (p.Ser452Asn) |
single nucleotide variant |
not provided [RCV002046850] |
Chr5:90628678 [GRCh38] Chr5:89924495 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13083A>C (p.Arg4361Ser) |
single nucleotide variant |
not provided [RCV002046860] |
Chr5:90781430 [GRCh38] Chr5:90077247 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18904G>A (p.Ala6302Thr) |
single nucleotide variant |
not provided [RCV001900552] |
Chr5:91163883 [GRCh38] Chr5:90459700 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6356C>T (p.Thr2119Ile) |
single nucleotide variant |
not provided [RCV001901903] |
Chr5:90685861 [GRCh38] Chr5:89981678 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13215G>T (p.Lys4405Asn) |
single nucleotide variant |
not provided [RCV001903522] |
Chr5:90781562 [GRCh38] Chr5:90077379 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5944dup (p.Ser1982fs) |
duplication |
Usher syndrome [RCV002266041]|not provided [RCV001887713] |
Chr5:90683859..90683860 [GRCh38] Chr5:89979676..89979677 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.17388G>T (p.Gln5796His) |
single nucleotide variant |
not provided [RCV001877621] |
Chr5:90853467 [GRCh38] Chr5:90149284 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17693G>A (p.Arg5898Gln) |
single nucleotide variant |
not provided [RCV001962522] |
Chr5:90855839 [GRCh38] Chr5:90151656 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13210C>T (p.Pro4404Ser) |
single nucleotide variant |
not provided [RCV001898076] |
Chr5:90781557 [GRCh38] Chr5:90077374 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7202T>C (p.Met2401Thr) |
single nucleotide variant |
Usher syndrome type 2C [RCV002482465]|not provided [RCV001876477] |
Chr5:90693958 [GRCh38] Chr5:89989775 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.7816G>A (p.Val2606Met) |
single nucleotide variant |
not provided [RCV001974217] |
Chr5:90694572 [GRCh38] Chr5:89990389 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11267T>C (p.Ile3756Thr) |
single nucleotide variant |
not provided [RCV002050983] |
Chr5:90753719 [GRCh38] Chr5:90049536 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10481G>A (p.Arg3494Lys) |
single nucleotide variant |
not provided [RCV001978529] |
Chr5:90729696 [GRCh38] Chr5:90025513 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14888C>T (p.Thr4963Met) |
single nucleotide variant |
not provided [RCV001943308] |
Chr5:90807653 [GRCh38] Chr5:90103470 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.7282A>G (p.Asn2428Asp) |
single nucleotide variant |
not provided [RCV001880620] |
Chr5:90694038 [GRCh38] Chr5:89989855 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14806A>G (p.Ile4936Val) |
single nucleotide variant |
not provided [RCV002051104] |
Chr5:90805428 [GRCh38] Chr5:90101245 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3207G>T (p.Gln1069His) |
single nucleotide variant |
not provided [RCV002032946] |
Chr5:90647682 [GRCh38] Chr5:89943499 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6556C>A (p.Pro2186Thr) |
single nucleotide variant |
not provided [RCV001999058] |
Chr5:90689926 [GRCh38] Chr5:89985743 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3917G>A (p.Gly1306Glu) |
single nucleotide variant |
not provided [RCV001961870] |
Chr5:90653491 [GRCh38] Chr5:89949308 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1939A>G (p.Ile647Val) |
single nucleotide variant |
not provided [RCV001961878] |
Chr5:90635213 [GRCh38] Chr5:89931030 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13411T>G (p.Ser4471Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003289258]|not provided [RCV001944185] |
Chr5:90783303 [GRCh38] Chr5:90079120 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16369-2A>G |
single nucleotide variant |
not provided [RCV001939496] |
Chr5:90828942 [GRCh38] Chr5:90124759 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.2347A>G (p.Arg783Gly) |
single nucleotide variant |
not provided [RCV001920945] |
Chr5:90642742 [GRCh38] Chr5:89938559 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.771G>T (p.Lys257Asn) |
single nucleotide variant |
not provided [RCV001994219] |
Chr5:90627309 [GRCh38] Chr5:89923126 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10601C>T (p.Ser3534Leu) |
single nucleotide variant |
not provided [RCV001999131] |
Chr5:90745097 [GRCh38] Chr5:90040914 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.9069G>C (p.Arg3023Ser) |
single nucleotide variant |
not provided [RCV001888658] |
Chr5:90712313 [GRCh38] Chr5:90008130 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.4538_4539del (p.Tyr1513fs) |
microsatellite |
not provided [RCV001937789] |
Chr5:90658062..90658063 [GRCh38] Chr5:89953879..89953880 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.5927A>G (p.Tyr1976Cys) |
single nucleotide variant |
not provided [RCV001918257] |
Chr5:90683848 [GRCh38] Chr5:89979665 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12211C>T (p.Arg4071Ter) |
single nucleotide variant |
not provided [RCV001879280] |
Chr5:90763395 [GRCh38] Chr5:90059212 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.7778G>T (p.Gly2593Val) |
single nucleotide variant |
not provided [RCV001939028] |
Chr5:90694534 [GRCh38] Chr5:89990351 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14818A>G (p.Asn4940Asp) |
single nucleotide variant |
not provided [RCV002018280] |
Chr5:90805440 [GRCh38] Chr5:90101257 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18750A>G (p.Ile6250Met) |
single nucleotide variant |
not provided [RCV001962078] |
Chr5:91153346 [GRCh38] Chr5:90449163 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6523G>T (p.Val2175Phe) |
single nucleotide variant |
not provided [RCV001887398]|not specified [RCV002246581] |
Chr5:90689893 [GRCh38] Chr5:89985710 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7292C>T (p.Ala2431Val) |
single nucleotide variant |
not provided [RCV002001346] |
Chr5:90694048 [GRCh38] Chr5:89989865 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1349G>C (p.Arg450Thr) |
single nucleotide variant |
not provided [RCV001958536] |
Chr5:90628672 [GRCh38] Chr5:89924489 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18676C>T (p.Pro6226Ser) |
single nucleotide variant |
not provided [RCV001996488] |
Chr5:91153272 [GRCh38] Chr5:90449089 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16624del (p.Ala5542fs) |
deletion |
not provided [RCV001866494] |
Chr5:90840590 [GRCh38] Chr5:90136407 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.13346A>T (p.Asp4449Val) |
single nucleotide variant |
not provided [RCV002047392] |
Chr5:90783238 [GRCh38] Chr5:90079055 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1160A>G (p.Asp387Gly) |
single nucleotide variant |
not provided [RCV002013549] |
Chr5:90627698 [GRCh38] Chr5:89923515 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2241G>T (p.Arg747Ser) |
single nucleotide variant |
not provided [RCV001880943] |
Chr5:90642636 [GRCh38] Chr5:89938453 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11617A>T (p.Thr3873Ser) |
single nucleotide variant |
not provided [RCV001902507] |
Chr5:90756490 [GRCh38] Chr5:90052307 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5665G>T (p.Val1889Phe) |
single nucleotide variant |
not provided [RCV001961494] |
Chr5:90683586 [GRCh38] Chr5:89979403 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7727C>G (p.Ala2576Gly) |
single nucleotide variant |
not provided [RCV001963505] |
Chr5:90694483 [GRCh38] Chr5:89990300 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.8347G>C (p.Glu2783Gln) |
single nucleotide variant |
not provided [RCV001981387] |
Chr5:90704449 [GRCh38] Chr5:90000266 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18716C>T (p.Pro6239Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002562171]|not provided [RCV001934371] |
Chr5:91153312 [GRCh38] Chr5:90449129 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.11928T>G (p.Phe3976Leu) |
single nucleotide variant |
not provided [RCV001921298] |
Chr5:90757149 [GRCh38] Chr5:90052966 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2123G>T (p.Gly708Val) |
single nucleotide variant |
not provided [RCV002035847] |
Chr5:90637831 [GRCh38] Chr5:89933648 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7296G>A (p.Val2432=) |
single nucleotide variant |
not provided [RCV001962042] |
Chr5:90694052 [GRCh38] Chr5:89989869 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16310del (p.Thr5437fs) |
deletion |
not provided [RCV001999979] |
Chr5:90823538 [GRCh38] Chr5:90119355 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.12946G>A (p.Val4316Ile) |
single nucleotide variant |
not provided [RCV002026263] |
Chr5:90778961 [GRCh38] Chr5:90074778 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16573G>A (p.Gly5525Arg) |
single nucleotide variant |
not provided [RCV002027639] |
Chr5:90829148 [GRCh38] Chr5:90124965 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.18076A>G (p.Ile6026Val) |
single nucleotide variant |
not provided [RCV001973503] |
Chr5:90985446 [GRCh38] Chr5:90281263 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6017G>C (p.Gly2006Ala) |
single nucleotide variant |
not provided [RCV001974678] |
Chr5:90683938 [GRCh38] Chr5:89979755 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10054-2A>C |
single nucleotide variant |
not provided [RCV001953730] |
Chr5:90725547 [GRCh38] Chr5:90021364 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.5647A>G (p.Ser1883Gly) |
single nucleotide variant |
not provided [RCV001958335] |
Chr5:90681437 [GRCh38] Chr5:89977254 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9468A>G (p.Ile3156Met) |
single nucleotide variant |
not provided [RCV002016944] |
Chr5:90720068 [GRCh38] Chr5:90015885 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16323G>A (p.Met5441Ile) |
single nucleotide variant |
not provided [RCV001937737] |
Chr5:90823551 [GRCh38] Chr5:90119368 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10700C>T (p.Ala3567Val) |
single nucleotide variant |
not provided [RCV001981005] |
Chr5:90745196 [GRCh38] Chr5:90041013 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1468C>T (p.His490Tyr) |
single nucleotide variant |
not provided [RCV001999537] |
Chr5:90628791 [GRCh38] Chr5:89924608 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8198G>A (p.Arg2733Gln) |
single nucleotide variant |
not provided [RCV002037395] |
Chr5:90703707 [GRCh38] Chr5:89999524 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10054-1G>T |
single nucleotide variant |
not provided [RCV001963135] |
Chr5:90725548 [GRCh38] Chr5:90021365 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.14667A>G (p.Gly4889=) |
single nucleotide variant |
not provided [RCV001963541] |
Chr5:90805289 [GRCh38] Chr5:90101106 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14854dup (p.His4952fs) |
duplication |
not provided [RCV001888787] |
Chr5:90807616..90807617 [GRCh38] Chr5:90103433..90103434 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.14138G>T (p.Ser4713Ile) |
single nucleotide variant |
not provided [RCV001923701] |
Chr5:90790967 [GRCh38] Chr5:90086784 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8824+1G>A |
single nucleotide variant |
not provided [RCV001998055] |
Chr5:90708910 [GRCh38] Chr5:90004727 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.13375T>C (p.Phe4459Leu) |
single nucleotide variant |
not provided [RCV002039238] |
Chr5:90783267 [GRCh38] Chr5:90079084 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13193G>A (p.Gly4398Asp) |
single nucleotide variant |
not provided [RCV002019347] |
Chr5:90781540 [GRCh38] Chr5:90077357 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2091T>G (p.Phe697Leu) |
single nucleotide variant |
not provided [RCV002036123] |
Chr5:90637799 [GRCh38] Chr5:89933616 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1736_1745dup (p.Asp582delinsGluGluLysTer) |
duplication |
not provided [RCV001993294] |
Chr5:90629434..90629435 [GRCh38] Chr5:89925251..89925252 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1691C>A (p.Ala564Asp) |
single nucleotide variant |
not provided [RCV001881442] |
Chr5:90629391 [GRCh38] Chr5:89925208 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4977G>T (p.Glu1659Asp) |
single nucleotide variant |
not provided [RCV002001075] |
Chr5:90674101 [GRCh38] Chr5:89969918 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.721G>A (p.Gly241Arg) |
single nucleotide variant |
not provided [RCV001888339] |
Chr5:90627259 [GRCh38] Chr5:89923076 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12436C>G (p.Arg4146Gly) |
single nucleotide variant |
not provided [RCV001996995] |
Chr5:90776485 [GRCh38] Chr5:90072302 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17762G>C (p.Cys5921Ser) |
single nucleotide variant |
not provided [RCV001885768] |
Chr5:90863763 [GRCh38] Chr5:90159580 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15914A>G (p.Asp5305Gly) |
single nucleotide variant |
not provided [RCV002009984] |
Chr5:90811174 [GRCh38] Chr5:90106991 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12964_12984del (p.Leu4322_Glu4328del) |
deletion |
not provided [RCV001990697] |
Chr5:90778969..90778989 [GRCh38] Chr5:90074786..90074806 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16935C>G (p.Asn5645Lys) |
single nucleotide variant |
not provided [RCV001906429] |
Chr5:90840901 [GRCh38] Chr5:90136718 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12637G>C (p.Glu4213Gln) |
single nucleotide variant |
not provided [RCV001886516] |
Chr5:90778014 [GRCh38] Chr5:90073831 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3727dup (p.Ile1243fs) |
duplication |
not provided [RCV001941677] |
Chr5:90653300..90653301 [GRCh38] Chr5:89949117..89949118 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16224del (p.Trp5408fs) |
deletion |
not provided [RCV002000225] |
Chr5:90823451 [GRCh38] Chr5:90119268 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.17020-3C>T |
single nucleotide variant |
not provided [RCV001943008] |
Chr5:90848634 [GRCh38] Chr5:90144451 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8555T>G (p.Phe2852Cys) |
single nucleotide variant |
not provided [RCV001943683] |
Chr5:90705568 [GRCh38] Chr5:90001385 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.11581-3_11581-2insCA |
insertion |
not provided [RCV001943696] |
Chr5:90756451..90756452 [GRCh38] Chr5:90052268..90052269 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16283A>T (p.Glu5428Val) |
single nucleotide variant |
not provided [RCV001916230] |
Chr5:90823511 [GRCh38] Chr5:90119328 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2785_2898+82del |
deletion |
not provided [RCV001963658] |
Chr5:90644753..90644948 [GRCh38] Chr5:89940570..89940765 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.3562A>C (p.Ile1188Leu) |
single nucleotide variant |
not provided [RCV002026701] |
Chr5:90652491 [GRCh38] Chr5:89948308 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11757+4A>G |
single nucleotide variant |
not provided [RCV001952903] |
Chr5:90756634 [GRCh38] Chr5:90052451 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2765A>G (p.Asn922Ser) |
single nucleotide variant |
not provided [RCV001954159] |
Chr5:90644736 [GRCh38] Chr5:89940553 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6473C>T (p.Pro2158Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002552742]|not provided [RCV001900409] |
Chr5:90685978 [GRCh38] Chr5:89981795 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.967A>G (p.Ile323Val) |
single nucleotide variant |
not provided [RCV001900447] |
Chr5:90627505 [GRCh38] Chr5:89923322 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15480C>A (p.Tyr5160Ter) |
single nucleotide variant |
not provided [RCV001935687] |
Chr5:90810740 [GRCh38] Chr5:90106557 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.10503T>G (p.Phe3501Leu) |
single nucleotide variant |
not provided [RCV002028072] |
Chr5:90729718 [GRCh38] Chr5:90025535 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.560T>G (p.Val187Gly) |
single nucleotide variant |
not provided [RCV001870234] |
Chr5:90625131 [GRCh38] Chr5:89920948 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16248CGT[1] (p.Val5418del) |
microsatellite |
not provided [RCV001917680] |
Chr5:90823474..90823476 [GRCh38] Chr5:90119291..90119293 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17164_17168del (p.Ser5722fs) |
deletion |
not provided [RCV001878625] |
Chr5:90848780..90848784 [GRCh38] Chr5:90144597..90144601 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.84T>G (p.Phe28Leu) |
single nucleotide variant |
not provided [RCV001934883] |
Chr5:90614896 [GRCh38] Chr5:89910713 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6482C>T (p.Ala2161Val) |
single nucleotide variant |
not provided [RCV001877470] |
Chr5:90685987 [GRCh38] Chr5:89981804 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4235del (p.Lys1412fs) |
deletion |
not provided [RCV001933743] |
Chr5:90653808 [GRCh38] Chr5:89949625 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.5715A>G (p.Ile1905Met) |
single nucleotide variant |
not provided [RCV001993710] |
Chr5:90683636 [GRCh38] Chr5:89979453 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8471G>C (p.Gly2824Ala) |
single nucleotide variant |
Usher syndrome type 2C [RCV002482680]|not provided [RCV001881538] |
Chr5:90705484 [GRCh38] Chr5:90001301 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16285G>C (p.Glu5429Gln) |
single nucleotide variant |
not provided [RCV001994944] |
Chr5:90823513 [GRCh38] Chr5:90119330 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.986C>T (p.Thr329Ile) |
single nucleotide variant |
not provided [RCV001921725] |
Chr5:90627524 [GRCh38] Chr5:89923341 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9979C>T (p.His3327Tyr) |
single nucleotide variant |
not provided [RCV001867198] |
Chr5:90725158 [GRCh38] Chr5:90020975 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4283T>C (p.Leu1428Pro) |
single nucleotide variant |
not provided [RCV002050602] |
Chr5:90653857 [GRCh38] Chr5:89949674 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8021G>A (p.Ser2674Asn) |
single nucleotide variant |
not provided [RCV001870454] |
Chr5:90697012 [GRCh38] Chr5:89992829 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5095A>G (p.Ser1699Gly) |
single nucleotide variant |
not provided [RCV001955615] |
Chr5:90674219 [GRCh38] Chr5:89970036 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4626T>G (p.Ile1542Met) |
single nucleotide variant |
not provided [RCV002031482] |
Chr5:90658152 [GRCh38] Chr5:89953969 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2984_2985del (p.Leu995fs) |
deletion |
not provided [RCV001921756] |
Chr5:90646053..90646054 [GRCh38] Chr5:89941870..89941871 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.10181G>A (p.Gly3394Glu) |
single nucleotide variant |
not provided [RCV001936971] |
Chr5:90728688 [GRCh38] Chr5:90024505 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5167C>G (p.Pro1723Ala) |
single nucleotide variant |
not provided [RCV001996270] |
Chr5:90675299 [GRCh38] Chr5:89971116 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.16388A>G (p.Tyr5463Cys) |
single nucleotide variant |
not provided [RCV001951722] |
Chr5:90828963 [GRCh38] Chr5:90124780 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14972G>C (p.Arg4991Pro) |
single nucleotide variant |
not provided [RCV001991139] |
Chr5:90807737 [GRCh38] Chr5:90103554 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9634A>G (p.Ile3212Val) |
single nucleotide variant |
not provided [RCV001867353] |
Chr5:90720945 [GRCh38] Chr5:90016762 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.7570G>A (p.Val2524Met) |
single nucleotide variant |
not provided [RCV001995013] |
Chr5:90694326 [GRCh38] Chr5:89990143 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10107del (p.Asp3369fs) |
deletion |
not provided [RCV001921791] |
Chr5:90725602 [GRCh38] Chr5:90021419 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.8138C>G (p.Ser2713Cys) |
single nucleotide variant |
not provided [RCV002010484] |
Chr5:90697129 [GRCh38] Chr5:89992946 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1870C>T (p.Pro624Ser) |
single nucleotide variant |
not provided [RCV001899225] |
Chr5:90635144 [GRCh38] Chr5:89930961 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1823C>T (p.Ala608Val) |
single nucleotide variant |
not provided [RCV001992349] |
Chr5:90629523 [GRCh38] Chr5:89925340 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1168T>C (p.Tyr390His) |
single nucleotide variant |
not provided [RCV001899314] |
Chr5:90627706 [GRCh38] Chr5:89923523 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1316G>A (p.Ser439Asn) |
single nucleotide variant |
not provided [RCV002028388] |
Chr5:90628639 [GRCh38] Chr5:89924456 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15671C>A (p.Pro5224Gln) |
single nucleotide variant |
not provided [RCV001977423] |
Chr5:90810931 [GRCh38] Chr5:90106748 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9430G>T (p.Glu3144Ter) |
single nucleotide variant |
not provided [RCV001922487] |
Chr5:90716712 [GRCh38] Chr5:90012529 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.4262A>G (p.Glu1421Gly) |
single nucleotide variant |
not provided [RCV001917952] |
Chr5:90653836 [GRCh38] Chr5:89949653 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15857C>T (p.Thr5286Ile) |
single nucleotide variant |
not provided [RCV001877644] |
Chr5:90811117 [GRCh38] Chr5:90106934 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.2474A>T (p.Asn825Ile) |
single nucleotide variant |
ADGRV1-related condition [RCV003395249]|not provided [RCV001870547] |
Chr5:90642962 [GRCh38] Chr5:89938779 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18875A>G (p.Gln6292Arg) |
single nucleotide variant |
not provided [RCV001973033] |
Chr5:91163854 [GRCh38] Chr5:90459671 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12289G>C (p.Glu4097Gln) |
single nucleotide variant |
not provided [RCV002048286] |
Chr5:90774189 [GRCh38] Chr5:90070006 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.1612T>C (p.Ser538Pro) |
single nucleotide variant |
not provided [RCV001899409] |
Chr5:90629312 [GRCh38] Chr5:89925129 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1283A>G (p.Asn428Ser) |
single nucleotide variant |
not provided [RCV001954458] |
Chr5:90628606 [GRCh38] Chr5:89924423 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NC_000005.9:g.(?_89992734)_(90125023_?)del |
deletion |
not provided [RCV001933872] |
Chr5:89992734..90125023 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.2939A>G (p.Asn980Ser) |
single nucleotide variant |
not provided [RCV001974269] |
Chr5:90646008 [GRCh38] Chr5:89941825 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2686G>A (p.Gly896Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002552150]|not provided [RCV001900681] |
Chr5:90643935 [GRCh38] Chr5:89939752 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7879G>T (p.Val2627Phe) |
single nucleotide variant |
not provided [RCV001993949] |
Chr5:90694635 [GRCh38] Chr5:89990452 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.944A>T (p.His315Leu) |
single nucleotide variant |
not provided [RCV001876550] |
Chr5:90627482 [GRCh38] Chr5:89923299 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16339T>C (p.Phe5447Leu) |
single nucleotide variant |
not provided [RCV001900903] |
Chr5:90823567 [GRCh38] Chr5:90119384 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12592G>T (p.Val4198Leu) |
single nucleotide variant |
not provided [RCV002033396] |
Chr5:90777969 [GRCh38] Chr5:90073786 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6886C>T (p.Pro2296Ser) |
single nucleotide variant |
not provided [RCV001993891] |
Chr5:90690976 [GRCh38] Chr5:89986793 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17356A>G (p.Met5786Val) |
single nucleotide variant |
not provided [RCV002047148] |
Chr5:90853435 [GRCh38] Chr5:90149252 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11003T>C (p.Met3668Thr) |
single nucleotide variant |
not provided [RCV002047206] |
Chr5:90750579 [GRCh38] Chr5:90046396 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6778C>G (p.Arg2260Gly) |
single nucleotide variant |
not provided [RCV002047223] |
Chr5:90690868 [GRCh38] Chr5:89986685 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15824C>G (p.Pro5275Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002562203]|not provided [RCV001978726] |
Chr5:90811084 [GRCh38] Chr5:90106901 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10972C>T (p.Gln3658Ter) |
single nucleotide variant |
not provided [RCV001950837] |
Chr5:90745793 [GRCh38] Chr5:90041610 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.8287-4A>G |
single nucleotide variant |
not provided [RCV001877866] |
Chr5:90704385 [GRCh38] Chr5:90000202 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15497C>G (p.Thr5166Arg) |
single nucleotide variant |
not provided [RCV001877948] |
Chr5:90810757 [GRCh38] Chr5:90106574 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.188A>G (p.Asn63Ser) |
single nucleotide variant |
not provided [RCV001918344] |
Chr5:90615000 [GRCh38] Chr5:89910817 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8569G>A (p.Ala2857Thr) |
single nucleotide variant |
not provided [RCV001878010] |
Chr5:90706233 [GRCh38] Chr5:90002050 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16886G>A (p.Trp5629Ter) |
single nucleotide variant |
not provided [RCV001956063] |
Chr5:90840852 [GRCh38] Chr5:90136669 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1558T>C (p.Phe520Leu) |
single nucleotide variant |
not provided [RCV001991444] |
Chr5:90629258 [GRCh38] Chr5:89925075 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12673A>G (p.Asn4225Asp) |
single nucleotide variant |
not provided [RCV001973235] |
Chr5:90778433 [GRCh38] Chr5:90074250 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3149G>C (p.Arg1050Thr) |
single nucleotide variant |
not provided [RCV001989076] |
Chr5:90647624 [GRCh38] Chr5:89943441 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11963C>A (p.Thr3988Asn) |
single nucleotide variant |
not provided [RCV001921448] |
Chr5:90759431 [GRCh38] Chr5:90055248 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9269C>T (p.Thr3090Ile) |
single nucleotide variant |
not provided [RCV001881850] |
Chr5:90716551 [GRCh38] Chr5:90012368 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3403A>C (p.Thr1135Pro) |
single nucleotide variant |
not provided [RCV002032319] |
Chr5:90651717 [GRCh38] Chr5:89947534 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15835A>G (p.Ile5279Val) |
single nucleotide variant |
not provided [RCV002026164] |
Chr5:90811095 [GRCh38] Chr5:90106912 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13895T>A (p.Ile4632Lys) |
single nucleotide variant |
not provided [RCV001898517] |
Chr5:90789703 [GRCh38] Chr5:90085520 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4849A>G (p.Thr1617Ala) |
single nucleotide variant |
not provided [RCV001875247] |
Chr5:90672642 [GRCh38] Chr5:89968459 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1718G>A (p.Gly573Asp) |
single nucleotide variant |
not provided [RCV002046131] |
Chr5:90629418 [GRCh38] Chr5:89925235 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14521T>C (p.Phe4841Leu) |
single nucleotide variant |
not provided [RCV002009720] |
Chr5:90802742 [GRCh38] Chr5:90098559 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.15743C>T (p.Thr5248Ile) |
single nucleotide variant |
not provided [RCV002027620] |
Chr5:90811003 [GRCh38] Chr5:90106820 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7134-19T>G |
single nucleotide variant |
not provided [RCV001974663] |
Chr5:90693871 [GRCh38] Chr5:89989688 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12911C>T (p.Thr4304Met) |
single nucleotide variant |
not provided [RCV001918546] |
Chr5:90778926 [GRCh38] Chr5:90074743 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12697A>G (p.Ser4233Gly) |
single nucleotide variant |
not provided [RCV001869992] |
Chr5:90778457 [GRCh38] Chr5:90074274 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8731-8T>G |
single nucleotide variant |
not provided [RCV001875381] |
Chr5:90708808 [GRCh38] Chr5:90004625 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8819G>T (p.Arg2940Ile) |
single nucleotide variant |
not provided [RCV001990482] |
Chr5:90708904 [GRCh38] Chr5:90004721 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12402A>G (p.Lys4134=) |
single nucleotide variant |
not provided [RCV001952465] |
Chr5:90774302 [GRCh38] Chr5:90070119 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15454C>T (p.Pro5152Ser) |
single nucleotide variant |
not provided [RCV002012237] |
Chr5:90810714 [GRCh38] Chr5:90106531 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2432A>C (p.His811Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002569246]|not provided [RCV001990406] |
Chr5:90642920 [GRCh38] Chr5:89938737 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16684A>G (p.Thr5562Ala) |
single nucleotide variant |
not provided [RCV001880789] |
Chr5:90840650 [GRCh38] Chr5:90136467 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6618G>T (p.Met2206Ile) |
single nucleotide variant |
not provided [RCV001972175] |
Chr5:90689988 [GRCh38] Chr5:89985805 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13340G>A (p.Gly4447Asp) |
single nucleotide variant |
Usher syndrome type 2C [RCV002466733]|not provided [RCV001989208] |
Chr5:90783232 [GRCh38] Chr5:90079049 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.2111C>T (p.Pro704Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002548882]|not provided [RCV002027615] |
Chr5:90637819 [GRCh38] Chr5:89933636 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.1988A>C (p.His663Pro) |
single nucleotide variant |
not provided [RCV001899910] |
Chr5:90635262 [GRCh38] Chr5:89931079 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14567T>G (p.Met4856Arg) |
single nucleotide variant |
not provided [RCV001878250] |
Chr5:90802788 [GRCh38] Chr5:90098605 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9325C>T (p.Gln3109Ter) |
single nucleotide variant |
not provided [RCV001875475] |
Chr5:90716607 [GRCh38] Chr5:90012424 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.6556C>T (p.Pro2186Ser) |
single nucleotide variant |
not provided [RCV001934669] |
Chr5:90689926 [GRCh38] Chr5:89985743 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10414A>G (p.Asn3472Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003264364]|not provided [RCV001994226] |
Chr5:90728921 [GRCh38] Chr5:90024738 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11121+5G>A |
single nucleotide variant |
not provided [RCV002016582] |
Chr5:90750702 [GRCh38] Chr5:90046519 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13252A>G (p.Ile4418Val) |
single nucleotide variant |
not provided [RCV001917335] |
Chr5:90783144 [GRCh38] Chr5:90078961 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11776A>G (p.Thr3926Ala) |
single nucleotide variant |
not provided [RCV002013676] |
Chr5:90756997 [GRCh38] Chr5:90052814 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10564_10565dup (p.Gly3523fs) |
duplication |
not provided [RCV001879533] |
Chr5:90745058..90745059 [GRCh38] Chr5:90040875..90040876 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.12917G>A (p.Ser4306Asn) |
single nucleotide variant |
not provided [RCV001932062] |
Chr5:90778932 [GRCh38] Chr5:90074749 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10424T>G (p.Leu3475Arg) |
single nucleotide variant |
not provided [RCV002031352] |
Chr5:90728931 [GRCh38] Chr5:90024748 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9286G>C (p.Glu3096Gln) |
single nucleotide variant |
not provided [RCV001881393] |
Chr5:90716568 [GRCh38] Chr5:90012385 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.18616A>G (p.Met6206Val) |
single nucleotide variant |
not provided [RCV001978978] |
Chr5:91150213 [GRCh38] Chr5:90446030 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2898+14A>G |
single nucleotide variant |
not provided [RCV001930708] |
Chr5:90644883 [GRCh38] Chr5:89940700 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.9185-3C>T |
single nucleotide variant |
not provided [RCV002027796] |
Chr5:90716464 [GRCh38] Chr5:90012281 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15418A>T (p.Thr5140Ser) |
single nucleotide variant |
not provided [RCV001878356] |
Chr5:90810678 [GRCh38] Chr5:90106495 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4231G>A (p.Ala1411Thr) |
single nucleotide variant |
not provided [RCV002046348] |
Chr5:90653805 [GRCh38] Chr5:89949622 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2033A>T (p.His678Leu) |
single nucleotide variant |
not provided [RCV001922221] |
Chr5:90637741 [GRCh38] Chr5:89933558 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.559-3C>T |
single nucleotide variant |
not provided [RCV001978383] |
Chr5:90625127 [GRCh38] Chr5:89920944 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14441C>A (p.Thr4814Asn) |
single nucleotide variant |
not provided [RCV002016666] |
Chr5:90791270 [GRCh38] Chr5:90087087 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2848G>C (p.Gly950Arg) |
single nucleotide variant |
not provided [RCV002050283] |
Chr5:90644819 [GRCh38] Chr5:89940636 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.13838A>C (p.His4613Pro) |
single nucleotide variant |
not provided [RCV001901381] |
Chr5:90788255 [GRCh38] Chr5:90084072 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.11039G>A (p.Arg3680His) |
single nucleotide variant |
not provided [RCV001901386] |
Chr5:90750615 [GRCh38] Chr5:90046432 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15497C>A (p.Thr5166Lys) |
single nucleotide variant |
not provided [RCV001989453] |
Chr5:90810757 [GRCh38] Chr5:90106574 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8731G>A (p.Asp2911Asn) |
single nucleotide variant |
not provided [RCV001992002] |
Chr5:90708816 [GRCh38] Chr5:90004633 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12052G>A (p.Val4018Ile) |
single nucleotide variant |
not provided [RCV002026683] |
Chr5:90759520 [GRCh38] Chr5:90055337 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NC_000005.9:g.(?_90119222)_(90151738_?)del |
deletion |
not provided [RCV001975139] |
Chr5:90119222..90151738 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16153G>A (p.Val5385Ile) |
single nucleotide variant |
not provided [RCV001977266] |
Chr5:90815693 [GRCh38] Chr5:90111510 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11758-5T>G |
single nucleotide variant |
not provided [RCV001921664] |
Chr5:90756974 [GRCh38] Chr5:90052791 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6462_6465del (p.Phe2154fs) |
deletion |
not provided [RCV001922304] |
Chr5:90685967..90685970 [GRCh38] Chr5:89981784..89981787 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.11450_11451delinsCT (p.Arg3817Thr) |
indel |
not provided [RCV002050356] |
Chr5:90755055..90755056 [GRCh38] Chr5:90050872..90050873 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6631G>C (p.Gly2211Arg) |
single nucleotide variant |
not provided [RCV001934695] |
Chr5:90690001 [GRCh38] Chr5:89985818 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12115A>G (p.Lys4039Glu) |
single nucleotide variant |
not provided [RCV002030461] |
Chr5:90759583 [GRCh38] Chr5:90055400 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13742A>G (p.Tyr4581Cys) |
single nucleotide variant |
not provided [RCV002046593] |
Chr5:90788159 [GRCh38] Chr5:90083976 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.11180A>G (p.Asn3727Ser) |
single nucleotide variant |
not provided [RCV001980542] |
Chr5:90753632 [GRCh38] Chr5:90049449 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6755T>A (p.Val2252Glu) |
single nucleotide variant |
not provided [RCV001989588] |
Chr5:90690845 [GRCh38] Chr5:89986662 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5051G>A (p.Ser1684Asn) |
single nucleotide variant |
not provided [RCV001901684] |
Chr5:90674175 [GRCh38] Chr5:89969992 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13893C>T (p.Thr4631=) |
single nucleotide variant |
not provided [RCV001952976] |
Chr5:90788310 [GRCh38] Chr5:90084127 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3237T>A (p.Asp1079Glu) |
single nucleotide variant |
not provided [RCV002015199] |
Chr5:90647712 [GRCh38] Chr5:89943529 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8033C>G (p.Thr2678Ser) |
single nucleotide variant |
not provided [RCV001980566] |
Chr5:90697024 [GRCh38] Chr5:89992841 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2758C>T (p.Arg920Ter) |
single nucleotide variant |
not provided [RCV001939612] |
Chr5:90644729 [GRCh38] Chr5:89940546 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.11377+1G>A |
single nucleotide variant |
not provided [RCV002011646] |
Chr5:90753830 [GRCh38] Chr5:90049647 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.2108C>A (p.Thr703Asn) |
single nucleotide variant |
not provided [RCV002011683] |
Chr5:90637816 [GRCh38] Chr5:89933633 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7054G>A (p.Val2352Ile) |
single nucleotide variant |
not provided [RCV001897817] |
Chr5:90692707 [GRCh38] Chr5:89988524 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16172T>G (p.Leu5391Arg) |
single nucleotide variant |
not provided [RCV001878782] |
Chr5:90815712 [GRCh38] Chr5:90111529 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8651T>G (p.Val2884Gly) |
single nucleotide variant |
not provided [RCV001979421] |
Chr5:90706315 [GRCh38] Chr5:90002132 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16268G>A (p.Gly5423Glu) |
single nucleotide variant |
not provided [RCV001997006] |
Chr5:90823496 [GRCh38] Chr5:90119313 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14414C>T (p.Ser4805Leu) |
single nucleotide variant |
not provided [RCV001883800] |
Chr5:90791243 [GRCh38] Chr5:90087060 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6457_6459del (p.Lys2153del) |
deletion |
not provided [RCV001980600] |
Chr5:90685961..90685963 [GRCh38] Chr5:89981778..89981780 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.124G>A (p.Val42Ile) |
single nucleotide variant |
not provided [RCV002018813] |
Chr5:90614936 [GRCh38] Chr5:89910753 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12958G>A (p.Gly4320Arg) |
single nucleotide variant |
not provided [RCV002036090] |
Chr5:90778973 [GRCh38] Chr5:90074790 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5622T>A (p.Ser1874Arg) |
single nucleotide variant |
not provided [RCV002020027] |
Chr5:90681412 [GRCh38] Chr5:89977229 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7025T>G (p.Ile2342Ser) |
single nucleotide variant |
not provided [RCV002026918] |
Chr5:90692678 [GRCh38] Chr5:89988495 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7051A>T (p.Thr2351Ser) |
single nucleotide variant |
not provided [RCV002010478] |
Chr5:90692704 [GRCh38] Chr5:89988521 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12155C>A (p.Pro4052His) |
single nucleotide variant |
not provided [RCV002011707] |
Chr5:90763339 [GRCh38] Chr5:90059156 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16369G>A (p.Val5457Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002562133]|not provided [RCV001957690] |
Chr5:90828944 [GRCh38] Chr5:90124761 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.4703G>A (p.Ser1568Asn) |
single nucleotide variant |
not provided [RCV001997067]|not specified [RCV003323958] |
Chr5:90658229 [GRCh38] Chr5:89954046 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.7426A>C (p.Asn2476His) |
single nucleotide variant |
not provided [RCV002036147] |
Chr5:90694182 [GRCh38] Chr5:89989999 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15376G>A (p.Asp5126Asn) |
single nucleotide variant |
not provided [RCV001907461] |
Chr5:90810636 [GRCh38] Chr5:90106453 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.22+6C>T |
single nucleotide variant |
not provided [RCV001961451] |
Chr5:90558923 [GRCh38] Chr5:89854740 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1330C>A (p.Pro444Thr) |
single nucleotide variant |
not provided [RCV001940952] |
Chr5:90628653 [GRCh38] Chr5:89924470 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16103T>C (p.Ile5368Thr) |
single nucleotide variant |
not provided [RCV002049504] |
Chr5:90815643 [GRCh38] Chr5:90111460 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10003C>T (p.Pro3335Ser) |
single nucleotide variant |
not provided [RCV001932519] |
Chr5:90725182 [GRCh38] Chr5:90020999 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16481C>G (p.Ser5494Cys) |
single nucleotide variant |
not provided [RCV002050901] |
Chr5:90829056 [GRCh38] Chr5:90124873 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6374C>T (p.Pro2125Leu) |
single nucleotide variant |
not provided [RCV001977740] |
Chr5:90685879 [GRCh38] Chr5:89981696 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15335G>A (p.Arg5112His) |
single nucleotide variant |
not provided [RCV002033732] |
Chr5:90810595 [GRCh38] Chr5:90106412 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.9797C>T (p.Ser3266Leu) |
single nucleotide variant |
not provided [RCV002018287] |
Chr5:90724880 [GRCh38] Chr5:90020697 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.7126A>G (p.Arg2376Gly) |
single nucleotide variant |
not provided [RCV001925746] |
Chr5:90692779 [GRCh38] Chr5:89988596 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14662-2A>C |
single nucleotide variant |
not provided [RCV001961614] |
Chr5:90805282 [GRCh38] Chr5:90101099 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.5059C>T (p.Pro1687Ser) |
single nucleotide variant |
not provided [RCV001916748] |
Chr5:90674183 [GRCh38] Chr5:89970000 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17455-2A>G |
single nucleotide variant |
not provided [RCV001974208] |
Chr5:90854060 [GRCh38] Chr5:90149877 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.8918A>G (p.Glu2973Gly) |
single nucleotide variant |
not provided [RCV002010665] |
Chr5:90711198 [GRCh38] Chr5:90007015 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12890A>G (p.His4297Arg) |
single nucleotide variant |
not provided [RCV001956822] |
Chr5:90778905 [GRCh38] Chr5:90074722 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.180G>C (p.Glu60Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003348604]|not provided [RCV001903933] |
Chr5:90614992 [GRCh38] Chr5:89910809 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.11945C>T (p.Thr3982Ile) |
single nucleotide variant |
not provided [RCV001906491] |
Chr5:90759413 [GRCh38] Chr5:90055230 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.337A>G (p.Ile113Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002571262]|not provided [RCV001973045] |
Chr5:90617933 [GRCh38] Chr5:89913750 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12965T>C (p.Leu4322Pro) |
single nucleotide variant |
not provided [RCV001899488] |
Chr5:90778980 [GRCh38] Chr5:90074797 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8842G>C (p.Ala2948Pro) |
single nucleotide variant |
not provided [RCV002011974] |
Chr5:90710998 [GRCh38] Chr5:90006815 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4549A>G (p.Arg1517Gly) |
single nucleotide variant |
not provided [RCV001902135] |
Chr5:90658075 [GRCh38] Chr5:89953892 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.5950A>G (p.Lys1984Glu) |
single nucleotide variant |
not provided [RCV002051101] |
Chr5:90683871 [GRCh38] Chr5:89979688 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16196+3A>G |
single nucleotide variant |
not provided [RCV001940414] |
Chr5:90815739 [GRCh38] Chr5:90111556 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3058G>A (p.Ala1020Thr) |
single nucleotide variant |
not provided [RCV001877824] |
Chr5:90647533 [GRCh38] Chr5:89943350 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12968T>C (p.Leu4323Pro) |
single nucleotide variant |
not provided [RCV001881561] |
Chr5:90778983 [GRCh38] Chr5:90074800 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12797A>G (p.Tyr4266Cys) |
single nucleotide variant |
not provided [RCV001938593] |
Chr5:90778557 [GRCh38] Chr5:90074374 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2875A>G (p.Thr959Ala) |
single nucleotide variant |
not provided [RCV002019594] |
Chr5:90644846 [GRCh38] Chr5:89940663 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1276C>T (p.His426Tyr) |
single nucleotide variant |
not provided [RCV001990301] |
Chr5:90628599 [GRCh38] Chr5:89924416 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.787G>T (p.Val263Leu) |
single nucleotide variant |
not provided [RCV002028647] |
Chr5:90627325 [GRCh38] Chr5:89923142 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13012C>T (p.Leu4338Phe) |
single nucleotide variant |
not provided [RCV001994999] |
Chr5:90779027 [GRCh38] Chr5:90074844 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.17686T>C (p.Tyr5896His) |
single nucleotide variant |
not provided [RCV001977953] |
Chr5:90855832 [GRCh38] Chr5:90151649 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7698_7699insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAAATATTTCT (p.Thr2567delinsPhePhePhePhePhePheXaaXaaXaaXaaAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer) |
insertion |
not provided [RCV001924703] |
Chr5:90694442..90694443 [GRCh38] Chr5:89990259..89990260 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.10548A>G (p.Ile3516Met) |
single nucleotide variant |
not provided [RCV001991550] |
Chr5:90729763 [GRCh38] Chr5:90025580 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6520G>A (p.Val2174Met) |
single nucleotide variant |
not provided [RCV001975887] |
Chr5:90689890 [GRCh38] Chr5:89985707 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18395G>A (p.Trp6132Ter) |
single nucleotide variant |
not provided [RCV001954968] |
Chr5:91102303 [GRCh38] Chr5:90398120 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.5740G>A (p.Ala1914Thr) |
single nucleotide variant |
not provided [RCV002014794] |
Chr5:90683661 [GRCh38] Chr5:89979478 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8603T>C (p.Met2868Thr) |
single nucleotide variant |
not provided [RCV001996040] |
Chr5:90706267 [GRCh38] Chr5:90002084 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.7005T>G (p.Asp2335Glu) |
single nucleotide variant |
not provided [RCV002048724] |
Chr5:90692658 [GRCh38] Chr5:89988475 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.4351A>G (p.Ser1451Gly) |
single nucleotide variant |
not provided [RCV001992982] |
Chr5:90653925 [GRCh38] Chr5:89949742 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7561A>G (p.Asn2521Asp) |
single nucleotide variant |
not provided [RCV002009684] |
Chr5:90694317 [GRCh38] Chr5:89990134 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9055G>A (p.Ala3019Thr) |
single nucleotide variant |
not provided [RCV001973412] |
Chr5:90712299 [GRCh38] Chr5:90008116 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10756G>A (p.Asp3586Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002551049]|not provided [RCV001867815] |
Chr5:90745252 [GRCh38] Chr5:90041069 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5381A>G (p.Asp1794Gly) |
single nucleotide variant |
not provided [RCV001977202] |
Chr5:90676147 [GRCh38] Chr5:89971964 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.2553+4T>A |
single nucleotide variant |
not provided [RCV001938136] |
Chr5:90643045 [GRCh38] Chr5:89938862 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.970G>C (p.Asp324His) |
single nucleotide variant |
not provided [RCV001997907] |
Chr5:90627508 [GRCh38] Chr5:89923325 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4630A>T (p.Lys1544Ter) |
single nucleotide variant |
not provided [RCV001960610] |
Chr5:90658156 [GRCh38] Chr5:89953973 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.13805T>C (p.Ile4602Thr) |
single nucleotide variant |
not provided [RCV002019126] |
Chr5:90788222 [GRCh38] Chr5:90084039 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17830A>G (p.Met5944Val) |
single nucleotide variant |
not provided [RCV001961175] |
Chr5:90863831 [GRCh38] Chr5:90159648 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6727A>C (p.Ile2243Leu) |
single nucleotide variant |
not provided [RCV002019694] |
Chr5:90690817 [GRCh38] Chr5:89986634 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11035G>A (p.Glu3679Lys) |
single nucleotide variant |
not provided [RCV001876939] |
Chr5:90750611 [GRCh38] Chr5:90046428 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1903dup (p.Glu635fs) |
duplication |
not provided [RCV001953766] |
Chr5:90635173..90635174 [GRCh38] Chr5:89930990..89930991 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.6561A>G (p.Ile2187Met) |
single nucleotide variant |
not provided [RCV002050107] |
Chr5:90689931 [GRCh38] Chr5:89985748 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4625T>C (p.Ile1542Thr) |
single nucleotide variant |
not provided [RCV001957142] |
Chr5:90658151 [GRCh38] Chr5:89953968 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1176_1179del (p.Leu393fs) |
deletion |
ADGRV1-related condition [RCV003395261]|not provided [RCV001881780] |
Chr5:90627713..90627716 [GRCh38] Chr5:89923530..89923533 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.8309_8312del (p.Phe2770fs) |
microsatellite |
not provided [RCV001958204] |
Chr5:90704407..90704410 [GRCh38] Chr5:90000224..90000227 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.6307G>T (p.Glu2103Ter) |
single nucleotide variant |
not provided [RCV001958811] |
Chr5:90685812 [GRCh38] Chr5:89981629 [GRCh37] Chr5:5q14.3 |
pathogenic |
NC_000005.9:g.(?_90151538)_(90151738_?)del |
deletion |
not provided [RCV001958833] |
Chr5:90151538..90151738 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.5833A>G (p.Lys1945Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002625404]|not provided [RCV002019714] |
Chr5:90683754 [GRCh38] Chr5:89979571 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.17731A>G (p.Thr5911Ala) |
single nucleotide variant |
not provided [RCV001961235] |
Chr5:90855877 [GRCh38] Chr5:90151694 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5664+6T>C |
single nucleotide variant |
not provided [RCV002011191] |
Chr5:90681460 [GRCh38] Chr5:89977277 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3836G>T (p.Gly1279Val) |
single nucleotide variant |
not provided [RCV002027721] |
Chr5:90653410 [GRCh38] Chr5:89949227 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2093A>C (p.Asn698Thr) |
single nucleotide variant |
not provided [RCV001976065] |
Chr5:90637801 [GRCh38] Chr5:89933618 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.803G>T (p.Ser268Ile) |
single nucleotide variant |
not provided [RCV002046235] |
Chr5:90627341 [GRCh38] Chr5:89923158 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5885A>C (p.His1962Pro) |
single nucleotide variant |
not provided [RCV001978143] |
Chr5:90683806 [GRCh38] Chr5:89979623 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12367A>T (p.Ile4123Leu) |
single nucleotide variant |
not provided [RCV001923021] |
Chr5:90774267 [GRCh38] Chr5:90070084 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10588T>C (p.Tyr3530His) |
single nucleotide variant |
not provided [RCV001884782] |
Chr5:90745084 [GRCh38] Chr5:90040901 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17272A>G (p.Ile5758Val) |
single nucleotide variant |
not provided [RCV001906133] |
Chr5:90853351 [GRCh38] Chr5:90149168 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.298G>C (p.Val100Leu) |
single nucleotide variant |
not provided [RCV001940631] |
Chr5:90617894 [GRCh38] Chr5:89913711 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3726_3727insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGATGTTCTAGATCTGATGATCTCGTGATTCTCCCGCCTCTGCCTCCCTATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCCCTTTGGAGTTTTT (p.Ile1243delinsPhePhePhePhePhePheXaaXaaXaaXaaTer) |
insertion |
not provided [RCV001953885] |
Chr5:90653285..90653286 [GRCh38] Chr5:89949102..89949103 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.5540C>T (p.Ala1847Val) |
single nucleotide variant |
not provided [RCV001879726] |
Chr5:90681330 [GRCh38] Chr5:89977147 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2954C>G (p.Ala985Gly) |
single nucleotide variant |
not provided [RCV001977378] |
Chr5:90646023 [GRCh38] Chr5:89941840 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13367dup (p.Val4457fs) |
duplication |
not provided [RCV001939460] |
Chr5:90783258..90783259 [GRCh38] Chr5:90079075..90079076 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.3182T>C (p.Leu1061Pro) |
single nucleotide variant |
not provided [RCV001886122] |
Chr5:90647657 [GRCh38] Chr5:89943474 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7714C>G (p.Leu2572Val) |
single nucleotide variant |
not provided [RCV002029162] |
Chr5:90694470 [GRCh38] Chr5:89990287 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5274A>C (p.Arg1758Ser) |
single nucleotide variant |
not provided [RCV001930691] |
Chr5:90675406 [GRCh38] Chr5:89971223 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11480A>T (p.Asp3827Val) |
single nucleotide variant |
not provided [RCV002011359] |
Chr5:90755085 [GRCh38] Chr5:90050902 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6386T>A (p.Val2129Glu) |
single nucleotide variant |
not provided [RCV001992051] |
Chr5:90685891 [GRCh38] Chr5:89981708 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2438G>A (p.Arg813Gln) |
single nucleotide variant |
not provided [RCV002017494] |
Chr5:90642926 [GRCh38] Chr5:89938743 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15022T>A (p.Ser5008Thr) |
single nucleotide variant |
not provided [RCV001907363] |
Chr5:90810282 [GRCh38] Chr5:90106099 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10370A>G (p.Glu3457Gly) |
single nucleotide variant |
not provided [RCV001930768] |
Chr5:90728877 [GRCh38] Chr5:90024694 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1198T>C (p.Phe400Leu) |
single nucleotide variant |
not provided [RCV001932159] |
Chr5:90627736 [GRCh38] Chr5:89923553 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4913C>G (p.Pro1638Arg) |
single nucleotide variant |
not provided [RCV002050392] |
Chr5:90672706 [GRCh38] Chr5:89968523 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11757+1G>A |
single nucleotide variant |
not provided [RCV001976322] |
Chr5:90756631 [GRCh38] Chr5:90052448 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.14777A>G (p.Tyr4926Cys) |
single nucleotide variant |
not provided [RCV001870254] |
Chr5:90805399 [GRCh38] Chr5:90101216 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6647G>A (p.Gly2216Glu) |
single nucleotide variant |
not provided [RCV001916192] |
Chr5:90690017 [GRCh38] Chr5:89985834 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13083-12T>A |
single nucleotide variant |
not provided [RCV001995388] |
Chr5:90781418 [GRCh38] Chr5:90077235 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7232A>G (p.Tyr2411Cys) |
single nucleotide variant |
not provided [RCV001957399] |
Chr5:90693988 [GRCh38] Chr5:89989805 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4840C>G (p.Gln1614Glu) |
single nucleotide variant |
not provided [RCV001996918] |
Chr5:90672633 [GRCh38] Chr5:89968450 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NC_000005.9:g.(?_89938433)_(89948400_?)dup |
duplication |
not provided [RCV002050463] |
Chr5:89938433..89948400 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.18790G>C (p.Ala6264Pro) |
single nucleotide variant |
not provided [RCV001955465] |
Chr5:91153386 [GRCh38] Chr5:90449203 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15818C>T (p.Ala5273Val) |
single nucleotide variant |
not provided [RCV001955529] |
Chr5:90811078 [GRCh38] Chr5:90106895 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17921C>G (p.Ala5974Gly) |
single nucleotide variant |
not provided [RCV001993567] |
Chr5:90965479 [GRCh38] Chr5:90261296 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12896G>A (p.Arg4299Gln) |
single nucleotide variant |
not provided [RCV001916595] |
Chr5:90778911 [GRCh38] Chr5:90074728 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.4100C>T (p.Thr1367Met) |
single nucleotide variant |
not provided [RCV001952676] |
Chr5:90653674 [GRCh38] Chr5:89949491 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8941G>A (p.Val2981Ile) |
single nucleotide variant |
not provided [RCV002034018] |
Chr5:90711221 [GRCh38] Chr5:90007038 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.2522C>G (p.Thr841Ser) |
single nucleotide variant |
not provided [RCV002017452] |
Chr5:90643010 [GRCh38] Chr5:89938827 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5368A>C (p.Ile1790Leu) |
single nucleotide variant |
not provided [RCV001931982] |
Chr5:90676134 [GRCh38] Chr5:89971951 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12472A>G (p.Arg4158Gly) |
single nucleotide variant |
not provided [RCV002012062] |
Chr5:90776521 [GRCh38] Chr5:90072338 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12343G>A (p.Asp4115Asn) |
single nucleotide variant |
not provided [RCV001877906] |
Chr5:90774243 [GRCh38] Chr5:90070060 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3398G>A (p.Gly1133Glu) |
single nucleotide variant |
not provided [RCV001991486] |
Chr5:90651712 [GRCh38] Chr5:89947529 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13057A>G (p.Ile4353Val) |
single nucleotide variant |
not provided [RCV001954385] |
Chr5:90779072 [GRCh38] Chr5:90074889 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7555T>C (p.Phe2519Leu) |
single nucleotide variant |
not provided [RCV001883637] |
Chr5:90694311 [GRCh38] Chr5:89990128 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18014A>G (p.His6005Arg) |
single nucleotide variant |
not provided [RCV001883846] |
Chr5:90985384 [GRCh38] Chr5:90281201 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.11620A>G (p.Ile3874Val) |
single nucleotide variant |
not provided [RCV001979887] |
Chr5:90756493 [GRCh38] Chr5:90052310 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11896G>T (p.Asp3966Tyr) |
single nucleotide variant |
not provided [RCV002017540] |
Chr5:90757117 [GRCh38] Chr5:90052934 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1166C>T (p.Pro389Leu) |
single nucleotide variant |
not provided [RCV002026838] |
Chr5:90627704 [GRCh38] Chr5:89923521 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18518G>A (p.Gly6173Glu) |
single nucleotide variant |
not provided [RCV001951681] |
Chr5:91150115 [GRCh38] Chr5:90445932 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15673T>C (p.Ser5225Pro) |
single nucleotide variant |
not provided [RCV001933870] |
Chr5:90810933 [GRCh38] Chr5:90106750 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.1839+3A>G |
single nucleotide variant |
not provided [RCV001920191] |
Chr5:90629542 [GRCh38] Chr5:89925359 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3794A>G (p.Tyr1265Cys) |
single nucleotide variant |
not provided [RCV002016023] |
Chr5:90653368 [GRCh38] Chr5:89949185 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18880G>C (p.Val6294Leu) |
single nucleotide variant |
not provided [RCV001906573] |
Chr5:91163859 [GRCh38] Chr5:90459676 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9156del (p.Gly3053fs) |
deletion |
not provided [RCV001923938] |
Chr5:90712400 [GRCh38] Chr5:90008217 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.15858A>G (p.Thr5286=) |
single nucleotide variant |
not provided [RCV001905221] |
Chr5:90811118 [GRCh38] Chr5:90106935 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12548T>C (p.Ile4183Thr) |
single nucleotide variant |
not provided [RCV001883879] |
Chr5:90777925 [GRCh38] Chr5:90073742 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8720C>T (p.Thr2907Ile) |
single nucleotide variant |
not provided [RCV001924882] |
Chr5:90706384 [GRCh38] Chr5:90002201 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3053A>G (p.Glu1018Gly) |
single nucleotide variant |
not provided [RCV001924498] |
Chr5:90647528 [GRCh38] Chr5:89943345 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11054A>G (p.Tyr3685Cys) |
single nucleotide variant |
not provided [RCV001978442] |
Chr5:90750630 [GRCh38] Chr5:90046447 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17999T>C (p.Val6000Ala) |
single nucleotide variant |
not provided [RCV001924976] |
Chr5:90985369 [GRCh38] Chr5:90281186 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12575G>A (p.Arg4192Lys) |
single nucleotide variant |
not provided [RCV001996607] |
Chr5:90777952 [GRCh38] Chr5:90073769 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16210G>T (p.Val5404Phe) |
single nucleotide variant |
not provided [RCV002018319] |
Chr5:90823438 [GRCh38] Chr5:90119255 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13763G>A (p.Gly4588Glu) |
single nucleotide variant |
not provided [RCV001960188] |
Chr5:90788180 [GRCh38] Chr5:90083997 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3598A>G (p.Asn1200Asp) |
single nucleotide variant |
not provided [RCV001938781] |
Chr5:90652527 [GRCh38] Chr5:89948344 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14864A>G (p.Gln4955Arg) |
single nucleotide variant |
not provided [RCV001905536] |
Chr5:90807629 [GRCh38] Chr5:90103446 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.632G>C (p.Arg211Thr) |
single nucleotide variant |
not provided [RCV001980366] |
Chr5:90625203 [GRCh38] Chr5:89921020 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15907T>C (p.Phe5303Leu) |
single nucleotide variant |
not provided [RCV001883941] |
Chr5:90811167 [GRCh38] Chr5:90106984 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3958C>T (p.Arg1320Cys) |
single nucleotide variant |
not provided [RCV002019084] |
Chr5:90653532 [GRCh38] Chr5:89949349 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14744A>G (p.Tyr4915Cys) |
single nucleotide variant |
not provided [RCV002035969] |
Chr5:90805366 [GRCh38] Chr5:90101183 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.254C>G (p.Ala85Gly) |
single nucleotide variant |
not provided [RCV001905475] |
Chr5:90617850 [GRCh38] Chr5:89913667 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.202G>A (p.Val68Ile) |
single nucleotide variant |
not provided [RCV002017952] |
Chr5:90615014 [GRCh38] Chr5:89910831 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10457G>C (p.Trp3486Ser) |
single nucleotide variant |
not provided [RCV001884208] |
Chr5:90729672 [GRCh38] Chr5:90025489 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3876C>A (p.Phe1292Leu) |
single nucleotide variant |
not provided [RCV001905585] |
Chr5:90653450 [GRCh38] Chr5:89949267 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1604G>A (p.Arg535Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002553462]|not provided [RCV001924641] |
Chr5:90629304 [GRCh38] Chr5:89925121 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.1563dup (p.Pro522fs) |
duplication |
not provided [RCV002035310] |
Chr5:90629257..90629258 [GRCh38] Chr5:89925074..89925075 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1010T>C (p.Ile337Thr) |
single nucleotide variant |
not provided [RCV002019110] |
Chr5:90627548 [GRCh38] Chr5:89923365 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3518del (p.Thr1172_Ser1173insTer) |
deletion |
not provided [RCV001906799] |
Chr5:90652447 [GRCh38] Chr5:89948264 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.592T>G (p.Leu198Val) |
single nucleotide variant |
not provided [RCV001884732] |
Chr5:90625163 [GRCh38] Chr5:89920980 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5407T>C (p.Ser1803Pro) |
single nucleotide variant |
not provided [RCV001980570] |
Chr5:90676173 [GRCh38] Chr5:89971990 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.455T>G (p.Leu152Arg) |
single nucleotide variant |
not provided [RCV001980802] |
Chr5:90622598 [GRCh38] Chr5:89918415 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16537G>T (p.Ala5513Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003355686]|not provided [RCV001960266] |
Chr5:90829112 [GRCh38] Chr5:90124929 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.18839A>C (p.Gln6280Pro) |
single nucleotide variant |
not provided [RCV001886017] |
Chr5:91163818 [GRCh38] Chr5:90459635 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7648A>T (p.Ile2550Phe) |
single nucleotide variant |
not provided [RCV001907247] |
Chr5:90694404 [GRCh38] Chr5:89990221 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14039T>G (p.Ile4680Ser) |
single nucleotide variant |
not provided [RCV001896976] |
Chr5:90789847 [GRCh38] Chr5:90085664 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.830A>T (p.His277Leu) |
single nucleotide variant |
not provided [RCV002035526] |
Chr5:90627368 [GRCh38] Chr5:89923185 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15674C>T (p.Ser5225Phe) |
single nucleotide variant |
not provided [RCV002018809] |
Chr5:90810934 [GRCh38] Chr5:90106751 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14972G>A (p.Arg4991Gln) |
single nucleotide variant |
not provided [RCV001981515] |
Chr5:90807737 [GRCh38] Chr5:90103554 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7895C>G (p.Thr2632Ser) |
single nucleotide variant |
not provided [RCV001998577] |
Chr5:90694651 [GRCh38] Chr5:89990468 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15284C>T (p.Thr5095Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002550475]|not provided [RCV002036477] |
Chr5:90810544 [GRCh38] Chr5:90106361 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6595G>A (p.Glu2199Lys) |
single nucleotide variant |
not provided [RCV001907460] |
Chr5:90689965 [GRCh38] Chr5:89985782 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16781G>A (p.Arg5594His) |
single nucleotide variant |
not provided [RCV002009624] |
Chr5:90840747 [GRCh38] Chr5:90136564 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17109C>T (p.Arg5703=) |
single nucleotide variant |
not provided [RCV001973814] |
Chr5:90848726 [GRCh38] Chr5:90144543 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.8875C>T (p.Arg2959Ter) |
single nucleotide variant |
not provided [RCV001956515] |
Chr5:90711031 [GRCh38] Chr5:90006848 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.18912_18915del (p.His6305fs) |
deletion |
not provided [RCV001937170] |
Chr5:91163888..91163891 [GRCh38] Chr5:90459705..90459708 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11217_11301delinsGATTGTGA (p.Thr3740fs) |
indel |
not provided [RCV001950852] |
Chr5:90753669..90753753 [GRCh38] Chr5:90049486..90049570 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.6542C>G (p.Thr2181Ser) |
single nucleotide variant |
not provided [RCV001867005] |
Chr5:90689912 [GRCh38] Chr5:89985729 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11649C>G (p.Asp3883Glu) |
single nucleotide variant |
not provided [RCV001974591] |
Chr5:90756522 [GRCh38] Chr5:90052339 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NC_000005.9:g.(?_89920927)_(89923613_?)dup |
duplication |
not provided [RCV002050467] |
Chr5:89920927..89923613 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.14812G>A (p.Val4938Ile) |
single nucleotide variant |
not provided [RCV001988981] |
Chr5:90805434 [GRCh38] Chr5:90101251 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12220T>C (p.Trp4074Arg) |
single nucleotide variant |
not provided [RCV001932396] |
Chr5:90763404 [GRCh38] Chr5:90059221 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7094T>G (p.Leu2365Arg) |
single nucleotide variant |
not provided [RCV002012492] |
Chr5:90692747 [GRCh38] Chr5:89988564 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2611G>C (p.Gly871Arg) |
single nucleotide variant |
not provided [RCV001877355] |
Chr5:90643860 [GRCh38] Chr5:89939677 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16721G>T (p.Ser5574Ile) |
single nucleotide variant |
not provided [RCV002049767] |
Chr5:90840687 [GRCh38] Chr5:90136504 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10203A>G (p.Lys3401=) |
single nucleotide variant |
not provided [RCV001920442] |
Chr5:90728710 [GRCh38] Chr5:90024527 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.449A>G (p.Asn150Ser) |
single nucleotide variant |
Usher syndrome type 2C [RCV002498025]|not provided [RCV002029152] |
Chr5:90619177 [GRCh38] Chr5:89914994 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9604A>G (p.Ile3202Val) |
single nucleotide variant |
not provided [RCV001900141] |
Chr5:90720204 [GRCh38] Chr5:90016021 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4928A>G (p.Glu1643Gly) |
single nucleotide variant |
not provided [RCV001877451] |
Chr5:90672721 [GRCh38] Chr5:89968538 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15073T>G (p.Leu5025Val) |
single nucleotide variant |
not provided [RCV001881319] |
Chr5:90810333 [GRCh38] Chr5:90106150 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14355del (p.Asn4786fs) |
deletion |
not provided [RCV001978985] |
Chr5:90791183 [GRCh38] Chr5:90087000 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.8666T>C (p.Ile2889Thr) |
single nucleotide variant |
not provided [RCV001897448] |
Chr5:90706330 [GRCh38] Chr5:90002147 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5790dup (p.Ile1931fs) |
duplication |
not provided [RCV001916090] |
Chr5:90683710..90683711 [GRCh38] Chr5:89979527..89979528 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16934A>G (p.Asn5645Ser) |
single nucleotide variant |
not provided [RCV001954045] |
Chr5:90840900 [GRCh38] Chr5:90136717 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18413T>C (p.Val6138Ala) |
single nucleotide variant |
not provided [RCV001875395] |
Chr5:91102321 [GRCh38] Chr5:90398138 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14714G>A (p.Ser4905Asn) |
single nucleotide variant |
not provided [RCV001880367] |
Chr5:90805336 [GRCh38] Chr5:90101153 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13195A>G (p.Ile4399Val) |
single nucleotide variant |
not provided [RCV001993069] |
Chr5:90781542 [GRCh38] Chr5:90077359 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3947A>T (p.Gln1316Leu) |
single nucleotide variant |
not provided [RCV001881718] |
Chr5:90653521 [GRCh38] Chr5:89949338 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14436T>G (p.Ile4812Met) |
single nucleotide variant |
not provided [RCV001904502] |
Chr5:90791265 [GRCh38] Chr5:90087082 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18841G>A (p.Gly6281Ser) |
single nucleotide variant |
not provided [RCV002033608] |
Chr5:91163820 [GRCh38] Chr5:90459637 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15791A>T (p.Glu5264Val) |
single nucleotide variant |
not provided [RCV002033613] |
Chr5:90811051 [GRCh38] Chr5:90106868 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17716A>G (p.Asn5906Asp) |
single nucleotide variant |
not provided [RCV001917975] |
Chr5:90855862 [GRCh38] Chr5:90151679 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.2476A>C (p.Thr826Pro) |
single nucleotide variant |
not provided [RCV001992029] |
Chr5:90642964 [GRCh38] Chr5:89938781 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1352C>T (p.Pro451Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003375369]|not provided [RCV002049968] |
Chr5:90628675 [GRCh38] Chr5:89924492 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13904T>G (p.Phe4635Cys) |
single nucleotide variant |
not provided [RCV002050833] |
Chr5:90789712 [GRCh38] Chr5:90085529 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15655A>G (p.Thr5219Ala) |
single nucleotide variant |
not provided [RCV001882992] |
Chr5:90810915 [GRCh38] Chr5:90106732 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4202A>T (p.Lys1401Ile) |
single nucleotide variant |
not provided [RCV001918130] |
Chr5:90653776 [GRCh38] Chr5:89949593 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17882C>T (p.Ala5961Val) |
single nucleotide variant |
not provided [RCV001957177] |
Chr5:90965440 [GRCh38] Chr5:90261257 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8087T>C (p.Leu2696Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003161297]|not provided [RCV002046408] |
Chr5:90697078 [GRCh38] Chr5:89992895 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1486G>A (p.Ala496Thr) |
single nucleotide variant |
not provided [RCV002014494] |
Chr5:90628809 [GRCh38] Chr5:89924626 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7991A>G (p.Glu2664Gly) |
single nucleotide variant |
not provided [RCV001935296] |
Chr5:90696982 [GRCh38] Chr5:89992799 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3206A>G (p.Gln1069Arg) |
single nucleotide variant |
not provided [RCV001936608] |
Chr5:90647681 [GRCh38] Chr5:89943498 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14731A>G (p.Arg4911Gly) |
single nucleotide variant |
not provided [RCV001989433] |
Chr5:90805353 [GRCh38] Chr5:90101170 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14242A>G (p.Ser4748Gly) |
single nucleotide variant |
not provided [RCV002011089] |
Chr5:90791071 [GRCh38] Chr5:90086888 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4856G>A (p.Gly1619Asp) |
single nucleotide variant |
not provided [RCV001932668] |
Chr5:90672649 [GRCh38] Chr5:89968466 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2023dup (p.Ile675fs) |
duplication |
not provided [RCV001930922] |
Chr5:90637730..90637731 [GRCh38] Chr5:89933547..89933548 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.4115T>G (p.Ile1372Arg) |
single nucleotide variant |
not provided [RCV002010260] |
Chr5:90653689 [GRCh38] Chr5:89949506 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8567-14A>G |
single nucleotide variant |
not provided [RCV002014819] |
Chr5:90706217 [GRCh38] Chr5:90002034 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8959G>A (p.Glu2987Lys) |
single nucleotide variant |
not provided [RCV001957456] |
Chr5:90711239 [GRCh38] Chr5:90007056 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6466_6467insTCT (p.Ala2156delinsValSer) |
insertion |
not provided [RCV002033941] |
Chr5:90685971..90685972 [GRCh38] Chr5:89981788..89981789 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12143C>A (p.Ser4048Ter) |
single nucleotide variant |
not provided [RCV001993260] |
Chr5:90763327 [GRCh38] Chr5:90059144 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.5005A>G (p.Ile1669Val) |
single nucleotide variant |
not provided [RCV001881823] |
Chr5:90674129 [GRCh38] Chr5:89969946 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.9184+9T>G |
single nucleotide variant |
not provided [RCV002188611] |
Chr5:90712437 [GRCh38] Chr5:90008254 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14235G>C (p.Leu4745=) |
single nucleotide variant |
not provided [RCV002190759] |
Chr5:90791064 [GRCh38] Chr5:90086881 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8289G>A (p.Gly2763=) |
single nucleotide variant |
not provided [RCV002130402] |
Chr5:90704391 [GRCh38] Chr5:90000208 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14103A>T (p.Gly4701=) |
single nucleotide variant |
not provided [RCV002092473] |
Chr5:90790932 [GRCh38] Chr5:90086749 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11377+16T>C |
single nucleotide variant |
not provided [RCV002190270] |
Chr5:90753845 [GRCh38] Chr5:90049662 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15564C>T (p.Ile5188=) |
single nucleotide variant |
not provided [RCV002092211] |
Chr5:90810824 [GRCh38] Chr5:90106641 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5524+19G>C |
single nucleotide variant |
not provided [RCV002208528] |
Chr5:90679648 [GRCh38] Chr5:89975465 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13035C>T (p.Gly4345=) |
single nucleotide variant |
not provided [RCV002088543] |
Chr5:90779050 [GRCh38] Chr5:90074867 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16125G>A (p.Gln5375=) |
single nucleotide variant |
not provided [RCV002086054] |
Chr5:90815665 [GRCh38] Chr5:90111482 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5466T>C (p.Asp1822=) |
single nucleotide variant |
not provided [RCV002206035] |
Chr5:90679571 [GRCh38] Chr5:89975388 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18040T>C (p.Phe6014Leu) |
single nucleotide variant |
not provided [RCV002087669] |
Chr5:90985410 [GRCh38] Chr5:90281227 [GRCh37] Chr5:5q14.3 |
benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.12675C>T (p.Asn4225=) |
single nucleotide variant |
not provided [RCV002166463] |
Chr5:90778435 [GRCh38] Chr5:90074252 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9185-11T>C |
single nucleotide variant |
not provided [RCV002085819] |
Chr5:90716456 [GRCh38] Chr5:90012273 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12591C>T (p.Ser4197=) |
single nucleotide variant |
not provided [RCV002125716] |
Chr5:90777968 [GRCh38] Chr5:90073785 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16611+16A>G |
single nucleotide variant |
not provided [RCV002087581] |
Chr5:90829202 [GRCh38] Chr5:90125019 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.559-12G>A |
single nucleotide variant |
not provided [RCV002128600] |
Chr5:90625118 [GRCh38] Chr5:89920935 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8825-19T>C |
single nucleotide variant |
not provided [RCV002125958] |
Chr5:90710962 [GRCh38] Chr5:90006779 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11175T>C (p.Ala3725=) |
single nucleotide variant |
not provided [RCV002191044] |
Chr5:90753627 [GRCh38] Chr5:90049444 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2469T>C (p.Tyr823=) |
single nucleotide variant |
not provided [RCV002148925] |
Chr5:90642957 [GRCh38] Chr5:89938774 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18894G>A (p.Arg6298=) |
single nucleotide variant |
not provided [RCV002109027] |
Chr5:91163873 [GRCh38] Chr5:90459690 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13434-20T>C |
single nucleotide variant |
not provided [RCV002091640] |
Chr5:90783818 [GRCh38] Chr5:90079635 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5928T>C (p.Tyr1976=) |
single nucleotide variant |
not provided [RCV002091702] |
Chr5:90683849 [GRCh38] Chr5:89979666 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8472A>C (p.Gly2824=) |
single nucleotide variant |
not provided [RCV002092676] |
Chr5:90705485 [GRCh38] Chr5:90001302 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.357+9G>A |
single nucleotide variant |
not provided [RCV002206493] |
Chr5:90617962 [GRCh38] Chr5:89913779 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7822C>T (p.Leu2608=) |
single nucleotide variant |
not provided [RCV002071217] |
Chr5:90694578 [GRCh38] Chr5:89990395 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1353G>A (p.Pro451=) |
single nucleotide variant |
not provided [RCV002127720] |
Chr5:90628676 [GRCh38] Chr5:89924493 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4338C>T (p.Pro1446=) |
single nucleotide variant |
not provided [RCV002191692] |
Chr5:90653912 [GRCh38] Chr5:89949729 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8287-9A>T |
single nucleotide variant |
not provided [RCV002185409] |
Chr5:90704380 [GRCh38] Chr5:90000197 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12636C>T (p.Asp4212=) |
single nucleotide variant |
not provided [RCV002189986] |
Chr5:90778013 [GRCh38] Chr5:90073830 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5314-15T>C |
single nucleotide variant |
not provided [RCV002146312] |
Chr5:90676065 [GRCh38] Chr5:89971882 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12285+20_12285+21del |
deletion |
not provided [RCV002190047] |
Chr5:90763488..90763489 [GRCh38] Chr5:90059305..90059306 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13275A>T (p.Leu4425=) |
single nucleotide variant |
not provided [RCV002206396] |
Chr5:90783167 [GRCh38] Chr5:90078984 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1702T>C (p.Leu568=) |
single nucleotide variant |
not provided [RCV002167349] |
Chr5:90629402 [GRCh38] Chr5:89925219 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.786C>T (p.Pro262=) |
single nucleotide variant |
not provided [RCV002208108] |
Chr5:90627324 [GRCh38] Chr5:89923141 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3714C>T (p.Pro1238=) |
single nucleotide variant |
not provided [RCV002085188] |
Chr5:90653288 [GRCh38] Chr5:89949105 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6490+9A>T |
single nucleotide variant |
not provided [RCV002128395] |
Chr5:90686004 [GRCh38] Chr5:89981821 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18702T>C (p.Asn6234=) |
single nucleotide variant |
not provided [RCV002148345] |
Chr5:91153298 [GRCh38] Chr5:90449115 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5457T>C (p.Phe1819=) |
single nucleotide variant |
not provided [RCV002164841] |
Chr5:90679562 [GRCh38] Chr5:89975379 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6951+15T>C |
single nucleotide variant |
not provided [RCV002168109] |
Chr5:90691056 [GRCh38] Chr5:89986873 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13161C>T (p.Arg4387=) |
single nucleotide variant |
not provided [RCV002170054] |
Chr5:90781508 [GRCh38] Chr5:90077325 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15105C>T (p.Ser5035=) |
single nucleotide variant |
not provided [RCV002189184] |
Chr5:90810365 [GRCh38] Chr5:90106182 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18625-20C>A |
single nucleotide variant |
not provided [RCV002210673] |
Chr5:91153201 [GRCh38] Chr5:90449018 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10557A>T (p.Ile3519=) |
single nucleotide variant |
not provided [RCV002107136] |
Chr5:90745053 [GRCh38] Chr5:90040870 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7848C>T (p.Ser2616=) |
single nucleotide variant |
not provided [RCV002191034] |
Chr5:90694604 [GRCh38] Chr5:89990421 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1515G>A (p.Leu505=) |
single nucleotide variant |
not provided [RCV002148926] |
Chr5:90629215 [GRCh38] Chr5:89925032 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16612-20T>C |
single nucleotide variant |
not provided [RCV002170169] |
Chr5:90840558 [GRCh38] Chr5:90136375 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11470C>T (p.Leu3824=) |
single nucleotide variant |
not provided [RCV002190595] |
Chr5:90755075 [GRCh38] Chr5:90050892 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.672+10T>C |
single nucleotide variant |
not provided [RCV002204944] |
Chr5:90625253 [GRCh38] Chr5:89921070 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14044-11T>G |
single nucleotide variant |
not provided [RCV002128920] |
Chr5:90790862 [GRCh38] Chr5:90086679 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.762C>A (p.Ile254=) |
single nucleotide variant |
not provided [RCV002147404] |
Chr5:90627300 [GRCh38] Chr5:89923117 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13128A>G (p.Gln4376=) |
single nucleotide variant |
not provided [RCV002166692] |
Chr5:90781475 [GRCh38] Chr5:90077292 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6453T>C (p.Ser2151=) |
single nucleotide variant |
not provided [RCV002189104] |
Chr5:90685958 [GRCh38] Chr5:89981775 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4602C>T (p.Asp1534=) |
single nucleotide variant |
not provided [RCV002147473] |
Chr5:90658128 [GRCh38] Chr5:89953945 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16449C>T (p.Phe5483=) |
single nucleotide variant |
not provided [RCV002147067] |
Chr5:90829024 [GRCh38] Chr5:90124841 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2368-13T>C |
single nucleotide variant |
not provided [RCV002189279] |
Chr5:90642843 [GRCh38] Chr5:89938660 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.453+13T>A |
single nucleotide variant |
not provided [RCV002191524] |
Chr5:90619194 [GRCh38] Chr5:89915011 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8844A>G (p.Ala2948=) |
single nucleotide variant |
not provided [RCV002073793] |
Chr5:90711000 [GRCh38] Chr5:90006817 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12135A>G (p.Glu4045=) |
single nucleotide variant |
not provided [RCV002145875] |
Chr5:90763319 [GRCh38] Chr5:90059136 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10722T>C (p.His3574=) |
single nucleotide variant |
not provided [RCV002209862] |
Chr5:90745218 [GRCh38] Chr5:90041035 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16611+13T>C |
single nucleotide variant |
not provided [RCV002109106] |
Chr5:90829199 [GRCh38] Chr5:90125016 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10857A>G (p.Glu3619=) |
single nucleotide variant |
not provided [RCV002086337] |
Chr5:90745678 [GRCh38] Chr5:90041495 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16605T>C (p.Ser5535=) |
single nucleotide variant |
not provided [RCV002107034] |
Chr5:90829180 [GRCh38] Chr5:90124997 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2016+8G>T |
single nucleotide variant |
not provided [RCV002208033] |
Chr5:90635298 [GRCh38] Chr5:89931115 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17563C>T (p.Leu5855=) |
single nucleotide variant |
not provided [RCV002208014] |
Chr5:90854170 [GRCh38] Chr5:90149987 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15081A>G (p.Val5027=) |
single nucleotide variant |
not provided [RCV002126691] |
Chr5:90810341 [GRCh38] Chr5:90106158 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5730T>C (p.Asp1910=) |
single nucleotide variant |
not provided [RCV002146304] |
Chr5:90683651 [GRCh38] Chr5:89979468 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.453+19_453+21del |
microsatellite |
not provided [RCV002164968] |
Chr5:90619196..90619198 [GRCh38] Chr5:89915013..89915015 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.915T>C (p.Tyr305=) |
single nucleotide variant |
not provided [RCV002148479] |
Chr5:90627453 [GRCh38] Chr5:89923270 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6513A>G (p.Ser2171=) |
single nucleotide variant |
not provided [RCV002167569] |
Chr5:90689883 [GRCh38] Chr5:89985700 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7945+11G>T |
single nucleotide variant |
not provided [RCV002146465] |
Chr5:90694712 [GRCh38] Chr5:89990529 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15369A>G (p.Thr5123=) |
single nucleotide variant |
not provided [RCV002190232] |
Chr5:90810629 [GRCh38] Chr5:90106446 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18432+18G>T |
single nucleotide variant |
not provided [RCV002192593] |
Chr5:91102358 [GRCh38] Chr5:90398175 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12997C>T (p.Leu4333=) |
single nucleotide variant |
not provided [RCV002087688] |
Chr5:90779012 [GRCh38] Chr5:90074829 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2547A>T (p.Ile849=) |
single nucleotide variant |
not provided [RCV002150368] |
Chr5:90643035 [GRCh38] Chr5:89938852 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.678A>G (p.Pro226=) |
single nucleotide variant |
not provided [RCV002095896] |
Chr5:90627216 [GRCh38] Chr5:89923033 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2734+18T>G |
single nucleotide variant |
Usher syndrome type 2C [RCV002508035]|not provided [RCV002134947] |
Chr5:90644001 [GRCh38] Chr5:89939818 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.559-19A>G |
single nucleotide variant |
not provided [RCV002171684] |
Chr5:90625111 [GRCh38] Chr5:89920928 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.543C>T (p.Val181=) |
single nucleotide variant |
not provided [RCV002197434] |
Chr5:90622686 [GRCh38] Chr5:89918503 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.300A>G (p.Val100=) |
single nucleotide variant |
not provided [RCV002114845] |
Chr5:90617896 [GRCh38] Chr5:89913713 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5898G>C (p.Thr1966=) |
single nucleotide variant |
not provided [RCV002132798] |
Chr5:90683819 [GRCh38] Chr5:89979636 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4101G>A (p.Thr1367=) |
single nucleotide variant |
not provided [RCV002174323] |
Chr5:90653675 [GRCh38] Chr5:89949492 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18540C>A (p.Ala6180=) |
single nucleotide variant |
not provided [RCV002196733] |
Chr5:91150137 [GRCh38] Chr5:90445954 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6490+7A>G |
single nucleotide variant |
not provided [RCV002116526] |
Chr5:90686002 [GRCh38] Chr5:89981819 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5443+12G>A |
single nucleotide variant |
not provided [RCV002076619] |
Chr5:90676221 [GRCh38] Chr5:89972038 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9408C>T (p.Ser3136=) |
single nucleotide variant |
not provided [RCV002167362] |
Chr5:90716690 [GRCh38] Chr5:90012507 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5524+12T>G |
single nucleotide variant |
not provided [RCV002147904] |
Chr5:90679641 [GRCh38] Chr5:89975458 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10011T>C (p.Leu3337=) |
single nucleotide variant |
not provided [RCV002189974] |
Chr5:90725190 [GRCh38] Chr5:90021007 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11377+20T>C |
single nucleotide variant |
not provided [RCV002091509] |
Chr5:90753849 [GRCh38] Chr5:90049666 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11658A>G (p.Thr3886=) |
single nucleotide variant |
not provided [RCV002113142] |
Chr5:90756531 [GRCh38] Chr5:90052348 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16380T>C (p.Val5460=) |
single nucleotide variant |
not provided [RCV002172926] |
Chr5:90828955 [GRCh38] Chr5:90124772 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8730+9dup |
duplication |
not provided [RCV002093968] |
Chr5:90706402..90706403 [GRCh38] Chr5:90002219..90002220 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4379-11T>C |
single nucleotide variant |
not provided [RCV002079798] |
Chr5:90657894 [GRCh38] Chr5:89953711 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.558+12C>G |
single nucleotide variant |
not provided [RCV002197182] |
Chr5:90622713 [GRCh38] Chr5:89918530 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14538T>C (p.Ser4846=) |
single nucleotide variant |
not provided [RCV002192944] |
Chr5:90802759 [GRCh38] Chr5:90098576 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11751T>C (p.Val3917=) |
single nucleotide variant |
not provided [RCV002093494] |
Chr5:90756624 [GRCh38] Chr5:90052441 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9840T>C (p.Tyr3280=) |
single nucleotide variant |
not provided [RCV002080769] |
Chr5:90724923 [GRCh38] Chr5:90020740 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6390A>G (p.Ala2130=) |
single nucleotide variant |
not provided [RCV002150529] |
Chr5:90685895 [GRCh38] Chr5:89981712 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17994G>A (p.Val5998=) |
single nucleotide variant |
not provided [RCV002114040] |
Chr5:90985364 [GRCh38] Chr5:90281181 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7065T>C (p.Ala2355=) |
single nucleotide variant |
not provided [RCV002194343] |
Chr5:90692718 [GRCh38] Chr5:89988535 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.909C>T (p.Ile303=) |
single nucleotide variant |
not provided [RCV002212217] |
Chr5:90627447 [GRCh38] Chr5:89923264 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11817T>G (p.Val3939=) |
single nucleotide variant |
not provided [RCV002174824] |
Chr5:90757038 [GRCh38] Chr5:90052855 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10054-16C>T |
single nucleotide variant |
not provided [RCV002197518] |
Chr5:90725533 [GRCh38] Chr5:90021350 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4548C>T (p.Phe1516=) |
single nucleotide variant |
not provided [RCV002093068] |
Chr5:90658074 [GRCh38] Chr5:89953891 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3519A>G (p.Ser1173=) |
single nucleotide variant |
not provided [RCV002077414] |
Chr5:90652448 [GRCh38] Chr5:89948265 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4821T>C (p.His1607=) |
single nucleotide variant |
not provided [RCV002079880] |
Chr5:90672614 [GRCh38] Chr5:89968431 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2735-19G>A |
single nucleotide variant |
not provided [RCV002173992] |
Chr5:90644687 [GRCh38] Chr5:89940504 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6491-18T>C |
single nucleotide variant |
not provided [RCV002153781] |
Chr5:90689843 [GRCh38] Chr5:89985660 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6490+11A>G |
single nucleotide variant |
not provided [RCV002075595] |
Chr5:90686006 [GRCh38] Chr5:89981823 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14661+13G>A |
single nucleotide variant |
not provided [RCV002171599] |
Chr5:90802895 [GRCh38] Chr5:90098712 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14043+23dup |
duplication |
not provided [RCV002117108] |
Chr5:90789869..90789870 [GRCh38] Chr5:90085686..90085687 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.8904-13dup |
duplication |
not provided [RCV002174859] |
Chr5:90711164..90711165 [GRCh38] Chr5:90006981..90006982 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.11580+21del |
deletion |
not provided [RCV002213938] |
Chr5:90755205 [GRCh38] Chr5:90051022 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13632A>C (p.Gly4544=) |
single nucleotide variant |
not provided [RCV002151791] |
Chr5:90784036 [GRCh38] Chr5:90079853 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4767A>G (p.Gly1589=) |
single nucleotide variant |
not provided [RCV002148753] |
Chr5:90672560 [GRCh38] Chr5:89968377 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14478T>G (p.Gly4826=) |
single nucleotide variant |
not provided [RCV002192536] |
Chr5:90791307 [GRCh38] Chr5:90087124 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14518-12_14518-11del |
deletion |
not provided [RCV002095959] |
Chr5:90802726..90802727 [GRCh38] Chr5:90098543..90098544 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16197-6T>C |
single nucleotide variant |
not provided [RCV002197128] |
Chr5:90823419 [GRCh38] Chr5:90119236 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17756-16T>A |
single nucleotide variant |
not provided [RCV002079086] |
Chr5:90863741 [GRCh38] Chr5:90159558 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8156-17A>T |
single nucleotide variant |
not provided [RCV002077789] |
Chr5:90703648 [GRCh38] Chr5:89999465 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2136C>T (p.Gly712=) |
single nucleotide variant |
not provided [RCV002210846] |
Chr5:90637844 [GRCh38] Chr5:89933661 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1239-17C>A |
single nucleotide variant |
not provided [RCV002130500] |
Chr5:90628545 [GRCh38] Chr5:89924362 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11148G>A (p.Leu3716=) |
single nucleotide variant |
not provided [RCV002080002] |
Chr5:90753600 [GRCh38] Chr5:90049417 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15345A>G (p.Leu5115=) |
single nucleotide variant |
not provided [RCV002095726] |
Chr5:90810605 [GRCh38] Chr5:90106422 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8001T>C (p.Asp2667=) |
single nucleotide variant |
not provided [RCV002165295] |
Chr5:90696992 [GRCh38] Chr5:89992809 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12918C>T (p.Ser4306=) |
single nucleotide variant |
not provided [RCV002130525] |
Chr5:90778933 [GRCh38] Chr5:90074750 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8748A>T (p.Leu2916=) |
single nucleotide variant |
not provided [RCV002212982] |
Chr5:90708833 [GRCh38] Chr5:90004650 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10054-17C>T |
single nucleotide variant |
not provided [RCV002093808] |
Chr5:90725532 [GRCh38] Chr5:90021349 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5444-9C>T |
single nucleotide variant |
not provided [RCV002145688] |
Chr5:90679540 [GRCh38] Chr5:89975357 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18180T>C (p.Ala6060=) |
single nucleotide variant |
not provided [RCV002147196] |
Chr5:91072474 [GRCh38] Chr5:90368291 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16749A>C (p.Pro5583=) |
single nucleotide variant |
not provided [RCV002094873] |
Chr5:90840715 [GRCh38] Chr5:90136532 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17594+24dup |
duplication |
not provided [RCV002115861] |
Chr5:90854218..90854219 [GRCh38] Chr5:90150035..90150036 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.7133+11T>C |
single nucleotide variant |
not provided [RCV002152156] |
Chr5:90692797 [GRCh38] Chr5:89988614 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14115T>C (p.Ile4705=) |
single nucleotide variant |
not provided [RCV002134886] |
Chr5:90790944 [GRCh38] Chr5:90086761 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12066T>C (p.Val4022=) |
single nucleotide variant |
not provided [RCV002207772] |
Chr5:90759534 [GRCh38] Chr5:90055351 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12999G>T (p.Leu4333=) |
single nucleotide variant |
not provided [RCV002128773] |
Chr5:90779014 [GRCh38] Chr5:90074831 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10162-5T>C |
single nucleotide variant |
not provided [RCV002149937] |
Chr5:90728664 [GRCh38] Chr5:90024481 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6963G>A (p.Val2321=) |
single nucleotide variant |
not provided [RCV002095286] |
Chr5:90692616 [GRCh38] Chr5:89988433 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15033A>C (p.Ser5011=) |
single nucleotide variant |
not provided [RCV002186891] |
Chr5:90810293 [GRCh38] Chr5:90106110 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3290-16dup |
duplication |
not provided [RCV002205028] |
Chr5:90651584..90651585 [GRCh38] Chr5:89947401..89947402 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17604T>G (p.Ser5868=) |
single nucleotide variant |
not provided [RCV002207805] |
Chr5:90855750 [GRCh38] Chr5:90151567 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6933C>T (p.Asp2311=) |
single nucleotide variant |
not provided [RCV002072731] |
Chr5:90691023 [GRCh38] Chr5:89986840 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2406G>A (p.Arg802=) |
single nucleotide variant |
not provided [RCV002192805] |
Chr5:90642894 [GRCh38] Chr5:89938711 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12527+20T>C |
single nucleotide variant |
not provided [RCV002194746] |
Chr5:90776596 [GRCh38] Chr5:90072413 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12687C>T (p.Pro4229=) |
single nucleotide variant |
not provided [RCV002196503] |
Chr5:90778447 [GRCh38] Chr5:90074264 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1275C>G (p.Thr425=) |
single nucleotide variant |
not provided [RCV002076225] |
Chr5:90628598 [GRCh38] Chr5:89924415 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3261C>T (p.Pro1087=) |
single nucleotide variant |
not provided [RCV002133329] |
Chr5:90647736 [GRCh38] Chr5:89943553 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2368-9T>C |
single nucleotide variant |
not provided [RCV002192942] |
Chr5:90642847 [GRCh38] Chr5:89938664 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5679T>C (p.His1893=) |
single nucleotide variant |
not provided [RCV002193374] |
Chr5:90683600 [GRCh38] Chr5:89979417 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8574C>A (p.Ile2858=) |
single nucleotide variant |
not provided [RCV002131180] |
Chr5:90706238 [GRCh38] Chr5:90002055 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3846A>G (p.Gln1282=) |
single nucleotide variant |
not provided [RCV002133224] |
Chr5:90653420 [GRCh38] Chr5:89949237 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3204A>G (p.Arg1068=) |
single nucleotide variant |
not provided [RCV002165930] |
Chr5:90647679 [GRCh38] Chr5:89943496 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14625T>G (p.Ala4875=) |
single nucleotide variant |
not provided [RCV002079315] |
Chr5:90802846 [GRCh38] Chr5:90098663 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11940+18A>G |
single nucleotide variant |
not provided [RCV002170549] |
Chr5:90757179 [GRCh38] Chr5:90052996 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8730+9_8730+11del |
deletion |
not provided [RCV002212683] |
Chr5:90706402..90706404 [GRCh38] Chr5:90002219..90002221 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9060T>C (p.Asp3020=) |
single nucleotide variant |
not provided [RCV002213326] |
Chr5:90712304 [GRCh38] Chr5:90008121 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.477G>A (p.Glu159=) |
single nucleotide variant |
not provided [RCV002193708] |
Chr5:90622620 [GRCh38] Chr5:89918437 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18034C>T (p.Leu6012=) |
single nucleotide variant |
not provided [RCV002195633] |
Chr5:90985404 [GRCh38] Chr5:90281221 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14958C>T (p.Gly4986=) |
single nucleotide variant |
not provided [RCV002134484] |
Chr5:90807723 [GRCh38] Chr5:90103540 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5385T>C (p.Asn1795=) |
single nucleotide variant |
not provided [RCV002093030] |
Chr5:90676151 [GRCh38] Chr5:89971968 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18310+12A>G |
single nucleotide variant |
not provided [RCV002174178] |
Chr5:91072616 [GRCh38] Chr5:90368433 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18567T>A (p.Pro6189=) |
single nucleotide variant |
not provided [RCV002167971] |
Chr5:91150164 [GRCh38] Chr5:90445981 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12510T>C (p.Asn4170=) |
single nucleotide variant |
not provided [RCV002150098] |
Chr5:90776559 [GRCh38] Chr5:90072376 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16251C>T (p.Val5417=) |
single nucleotide variant |
not provided [RCV002187673] |
Chr5:90823479 [GRCh38] Chr5:90119296 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14661+15G>T |
single nucleotide variant |
not provided [RCV002215616] |
Chr5:90802897 [GRCh38] Chr5:90098714 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11581-5C>T |
single nucleotide variant |
not provided [RCV002149658] |
Chr5:90756449 [GRCh38] Chr5:90052266 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9651C>T (p.Ala3217=) |
single nucleotide variant |
not provided [RCV002211676] |
Chr5:90720962 [GRCh38] Chr5:90016779 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12403+12T>G |
single nucleotide variant |
not provided [RCV002170803] |
Chr5:90774315 [GRCh38] Chr5:90070132 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17790T>C (p.Cys5930=) |
single nucleotide variant |
not provided [RCV002149581] |
Chr5:90863791 [GRCh38] Chr5:90159608 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8387-18C>T |
single nucleotide variant |
not provided [RCV002093127] |
Chr5:90705382 [GRCh38] Chr5:90001199 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14518-14C>A |
single nucleotide variant |
not provided [RCV002077810] |
Chr5:90802725 [GRCh38] Chr5:90098542 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13082+14G>A |
single nucleotide variant |
not provided [RCV002172581] |
Chr5:90779111 [GRCh38] Chr5:90074928 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14044-3del |
deletion |
not provided [RCV002132758] |
Chr5:90790867 [GRCh38] Chr5:90086684 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.5577C>T (p.His1859=) |
single nucleotide variant |
not provided [RCV002132528] |
Chr5:90681367 [GRCh38] Chr5:89977184 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6951+19A>G |
single nucleotide variant |
not provided [RCV002153113] |
Chr5:90691060 [GRCh38] Chr5:89986877 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8529A>G (p.Thr2843=) |
single nucleotide variant |
not provided [RCV002071833] |
Chr5:90705542 [GRCh38] Chr5:90001359 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14364C>G (p.Thr4788=) |
single nucleotide variant |
not provided [RCV002148497] |
Chr5:90791193 [GRCh38] Chr5:90087010 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2925C>T (p.Thr975=) |
single nucleotide variant |
not provided [RCV002193336] |
Chr5:90645994 [GRCh38] Chr5:89941811 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8997G>A (p.Gln2999=) |
single nucleotide variant |
not provided [RCV002149648] |
Chr5:90711277 [GRCh38] Chr5:90007094 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18624+18T>C |
single nucleotide variant |
not provided [RCV002150734] |
Chr5:91150239 [GRCh38] Chr5:90446056 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9135G>T (p.Leu3045=) |
single nucleotide variant |
not provided [RCV002116704] |
Chr5:90712379 [GRCh38] Chr5:90008196 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5664+18_5664+21del |
microsatellite |
not provided [RCV002134037] |
Chr5:90681468..90681471 [GRCh38] Chr5:89977285..89977288 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10053+8del |
deletion |
not provided [RCV002076900] |
Chr5:90725240 [GRCh38] Chr5:90021057 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6490+8A>G |
single nucleotide variant |
not provided [RCV002131366] |
Chr5:90686003 [GRCh38] Chr5:89981820 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8287-9A>G |
single nucleotide variant |
not provided [RCV002077472] |
Chr5:90704380 [GRCh38] Chr5:90000197 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9498T>C (p.Tyr3166=) |
single nucleotide variant |
not provided [RCV002174661] |
Chr5:90720098 [GRCh38] Chr5:90015915 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12285+14T>C |
single nucleotide variant |
not provided [RCV002145842] |
Chr5:90763483 [GRCh38] Chr5:90059300 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9623+8T>G |
single nucleotide variant |
not provided [RCV002155733] |
Chr5:90720231 [GRCh38] Chr5:90016048 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12527+16T>G |
single nucleotide variant |
not provided [RCV002177101] |
Chr5:90776592 [GRCh38] Chr5:90072409 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6246T>C (p.Thr2082=) |
single nucleotide variant |
not provided [RCV002201295] |
Chr5:90684167 [GRCh38] Chr5:89979984 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5111-37C>T |
single nucleotide variant |
not provided [RCV002244371] |
Chr5:90675206 [GRCh38] Chr5:89971023 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13338A>G (p.Gly4446=) |
single nucleotide variant |
not provided [RCV002099854] |
Chr5:90783230 [GRCh38] Chr5:90079047 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7770C>T (p.Ser2590=) |
single nucleotide variant |
not provided [RCV002218526] |
Chr5:90694526 [GRCh38] Chr5:89990343 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6048A>G (p.Ala2016=) |
single nucleotide variant |
not provided [RCV002220284] |
Chr5:90683969 [GRCh38] Chr5:89979786 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13083-20G>T |
single nucleotide variant |
not provided [RCV002179270] |
Chr5:90781410 [GRCh38] Chr5:90077227 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9345G>A (p.Val3115=) |
single nucleotide variant |
not provided [RCV002181091] |
Chr5:90716627 [GRCh38] Chr5:90012444 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10975-18_10975-15del |
deletion |
not provided [RCV002135754] |
Chr5:90750531..90750534 [GRCh38] Chr5:90046348..90046351 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18852G>A (p.Glu6284=) |
single nucleotide variant |
not provided [RCV002139264] |
Chr5:91163831 [GRCh38] Chr5:90459648 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4605G>A (p.Glu1535=) |
single nucleotide variant |
not provided [RCV002117961] |
Chr5:90658131 [GRCh38] Chr5:89953948 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.2220T>A (p.Thr740=) |
single nucleotide variant |
not provided [RCV002175707] |
Chr5:90637928 [GRCh38] Chr5:89933745 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4881T>C (p.Phe1627=) |
single nucleotide variant |
not provided [RCV002098321] |
Chr5:90672674 [GRCh38] Chr5:89968491 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4905A>T (p.Thr1635=) |
single nucleotide variant |
not provided [RCV002083626] |
Chr5:90672698 [GRCh38] Chr5:89968515 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5118G>C (p.Leu1706=) |
single nucleotide variant |
not provided [RCV002202230] |
Chr5:90675250 [GRCh38] Chr5:89971067 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13884T>C (p.Val4628=) |
single nucleotide variant |
not provided [RCV002156414] |
Chr5:90788301 [GRCh38] Chr5:90084118 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3416+17A>G |
single nucleotide variant |
not provided [RCV002160390] |
Chr5:90651747 [GRCh38] Chr5:89947564 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.357+23T>C |
single nucleotide variant |
not provided [RCV002221783] |
|
likely benign |
NM_032119.4(ADGRV1):c.15933A>G (p.Lys5311=) |
single nucleotide variant |
not provided [RCV002120506] |
Chr5:90811193 [GRCh38] Chr5:90107010 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10769+20C>A |
single nucleotide variant |
not provided [RCV002138324] |
Chr5:90745285 [GRCh38] Chr5:90041102 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16079-5T>C |
single nucleotide variant |
not provided [RCV002202570] |
Chr5:90815614 [GRCh38] Chr5:90111431 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12090A>T (p.Pro4030=) |
single nucleotide variant |
not provided [RCV002219459] |
Chr5:90759558 [GRCh38] Chr5:90055375 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.357+10T>C |
single nucleotide variant |
not provided [RCV002160971] |
Chr5:90617963 [GRCh38] Chr5:89913780 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13434-19G>T |
single nucleotide variant |
not provided [RCV002158902] |
Chr5:90783819 [GRCh38] Chr5:90079636 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5361C>T (p.Tyr1787=) |
single nucleotide variant |
not provided [RCV002180484] |
Chr5:90676127 [GRCh38] Chr5:89971944 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10746C>G (p.Ser3582=) |
single nucleotide variant |
not provided [RCV002140674] |
Chr5:90745242 [GRCh38] Chr5:90041059 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14379A>G (p.Thr4793=) |
single nucleotide variant |
not provided [RCV002184361] |
Chr5:90791208 [GRCh38] Chr5:90087025 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.454-5A>G |
single nucleotide variant |
not provided [RCV002144323] |
Chr5:90622592 [GRCh38] Chr5:89918409 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5049A>G (p.Ala1683=) |
single nucleotide variant |
not provided [RCV002164682] |
Chr5:90674173 [GRCh38] Chr5:89969990 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14837-12G>C |
single nucleotide variant |
not provided [RCV002119173] |
Chr5:90807590 [GRCh38] Chr5:90103407 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16369-6T>C |
single nucleotide variant |
not provided [RCV002199460] |
Chr5:90828938 [GRCh38] Chr5:90124755 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17823G>A (p.Leu5941=) |
single nucleotide variant |
not provided [RCV002155770] |
Chr5:90863824 [GRCh38] Chr5:90159641 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12837A>G (p.Ser4279=) |
single nucleotide variant |
not provided [RCV002153998] |
Chr5:90778597 [GRCh38] Chr5:90074414 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8730+11T>C |
single nucleotide variant |
not provided [RCV002142822] |
Chr5:90706405 [GRCh38] Chr5:90002222 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.13434-16C>T |
single nucleotide variant |
not provided [RCV002179191] |
Chr5:90783822 [GRCh38] Chr5:90079639 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8286+14G>C |
single nucleotide variant |
not provided [RCV002218665] |
Chr5:90703809 [GRCh38] Chr5:89999626 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1450C>T (p.Leu484=) |
single nucleotide variant |
not provided [RCV002139365] |
Chr5:90628773 [GRCh38] Chr5:89924590 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8829A>G (p.Ser2943=) |
single nucleotide variant |
not provided [RCV002139370] |
Chr5:90710985 [GRCh38] Chr5:90006802 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9447+9A>C |
single nucleotide variant |
not provided [RCV002160094] |
Chr5:90716738 [GRCh38] Chr5:90012555 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3416+14G>A |
single nucleotide variant |
not provided [RCV002141424] |
Chr5:90651744 [GRCh38] Chr5:89947561 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18433-21_18433-14del |
deletion |
not provided [RCV002143168] |
Chr5:91150005..91150012 [GRCh38] Chr5:90445822..90445829 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11757+14T>C |
single nucleotide variant |
not provided [RCV002216906] |
Chr5:90756644 [GRCh38] Chr5:90052461 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18507G>C (p.Val6169=) |
single nucleotide variant |
not provided [RCV002177617] |
Chr5:91150104 [GRCh38] Chr5:90445921 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17406C>T (p.Ser5802=) |
single nucleotide variant |
not provided [RCV002216924] |
Chr5:90853485 [GRCh38] Chr5:90149302 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10427-15A>G |
single nucleotide variant |
not provided [RCV002143532] |
Chr5:90729627 [GRCh38] Chr5:90025444 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7434C>T (p.Asp2478=) |
single nucleotide variant |
not provided [RCV002163882] |
Chr5:90694190 [GRCh38] Chr5:89990007 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3447T>C (p.Ser1149=) |
single nucleotide variant |
not provided [RCV002217319] |
Chr5:90652376 [GRCh38] Chr5:89948193 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12120+11C>T |
single nucleotide variant |
not provided [RCV002160801] |
Chr5:90759599 [GRCh38] Chr5:90055416 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17756-18A>T |
single nucleotide variant |
not provided [RCV002164106] |
Chr5:90863739 [GRCh38] Chr5:90159556 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11581-19T>G |
single nucleotide variant |
not provided [RCV002180106] |
Chr5:90756435 [GRCh38] Chr5:90052252 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1137A>G (p.Val379=) |
single nucleotide variant |
not provided [RCV002164300] |
Chr5:90627675 [GRCh38] Chr5:89923492 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16276C>T (p.Leu5426=) |
single nucleotide variant |
not provided [RCV002217832] |
Chr5:90823504 [GRCh38] Chr5:90119321 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17679T>C (p.Tyr5893=) |
single nucleotide variant |
not provided [RCV002164467] |
Chr5:90855825 [GRCh38] Chr5:90151642 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16079-14A>G |
single nucleotide variant |
not provided [RCV002155487] |
Chr5:90815605 [GRCh38] Chr5:90111422 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7761C>T (p.Pro2587=) |
single nucleotide variant |
not provided [RCV002201204] |
Chr5:90694517 [GRCh38] Chr5:89990334 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18168C>T (p.Asn6056=) |
single nucleotide variant |
not provided [RCV002201237] |
Chr5:91072462 [GRCh38] Chr5:90368279 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2241-15C>T |
single nucleotide variant |
not provided [RCV002082935] |
Chr5:90642621 [GRCh38] Chr5:89938438 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6669T>C (p.Ile2223=) |
single nucleotide variant |
not provided [RCV002176950] |
Chr5:90690039 [GRCh38] Chr5:89985856 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4779T>C (p.Ser1593=) |
single nucleotide variant |
not provided [RCV002162853] |
Chr5:90672572 [GRCh38] Chr5:89968389 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12404-18A>G |
single nucleotide variant |
not provided [RCV002177226] |
Chr5:90776435 [GRCh38] Chr5:90072252 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18243T>C (p.His6081=) |
single nucleotide variant |
not provided [RCV002202900] |
Chr5:91072537 [GRCh38] Chr5:90368354 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3417-18C>G |
single nucleotide variant |
not provided [RCV002216596] |
Chr5:90652328 [GRCh38] Chr5:89948145 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5444-12C>T |
single nucleotide variant |
not provided [RCV002081392] |
Chr5:90679537 [GRCh38] Chr5:89975354 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7005T>C (p.Asp2335=) |
single nucleotide variant |
not provided [RCV002139093] |
Chr5:90692658 [GRCh38] Chr5:89988475 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9192T>C (p.Ile3064=) |
single nucleotide variant |
not provided [RCV002179038] |
Chr5:90716474 [GRCh38] Chr5:90012291 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17595-18_17595-17del |
deletion |
not provided [RCV002179062] |
Chr5:90855722..90855723 [GRCh38] Chr5:90151539..90151540 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2899-14A>G |
single nucleotide variant |
not provided [RCV002182584] |
Chr5:90645954 [GRCh38] Chr5:89941771 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5814C>T (p.Asp1938=) |
single nucleotide variant |
not provided [RCV002184565] |
Chr5:90683735 [GRCh38] Chr5:89979552 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7359A>C (p.Ser2453=) |
single nucleotide variant |
not provided [RCV002198107] |
Chr5:90694115 [GRCh38] Chr5:89989932 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13839T>C (p.His4613=) |
single nucleotide variant |
not provided [RCV002103596] |
Chr5:90788256 [GRCh38] Chr5:90084073 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9030C>T (p.Ile3010=) |
single nucleotide variant |
not provided [RCV002182655] |
Chr5:90711310 [GRCh38] Chr5:90007127 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8061C>T (p.Ser2687=) |
single nucleotide variant |
not provided [RCV002083717] |
Chr5:90697052 [GRCh38] Chr5:89992869 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7386G>A (p.Gln2462=) |
single nucleotide variant |
not provided [RCV002140898] |
Chr5:90694142 [GRCh38] Chr5:89989959 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1749C>A (p.Leu583=) |
single nucleotide variant |
not provided [RCV002158351] |
Chr5:90629449 [GRCh38] Chr5:89925266 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4379-8A>G |
single nucleotide variant |
not provided [RCV002203438] |
Chr5:90657897 [GRCh38] Chr5:89953714 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12120+20G>A |
single nucleotide variant |
not provided [RCV002182894] |
Chr5:90759608 [GRCh38] Chr5:90055425 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13433+15A>G |
single nucleotide variant |
not provided [RCV002181100] |
Chr5:90783340 [GRCh38] Chr5:90079157 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.846A>G (p.Pro282=) |
single nucleotide variant |
not provided [RCV002203617] |
Chr5:90627384 [GRCh38] Chr5:89923201 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7917T>C (p.Gly2639=) |
single nucleotide variant |
not provided [RCV002139838] |
Chr5:90694673 [GRCh38] Chr5:89990490 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9660C>A (p.Thr3220=) |
single nucleotide variant |
not provided [RCV002136365] |
Chr5:90720971 [GRCh38] Chr5:90016788 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14976A>C (p.Ser4992=) |
single nucleotide variant |
not provided [RCV002161948] |
Chr5:90810236 [GRCh38] Chr5:90106053 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12150T>C (p.Asp4050=) |
single nucleotide variant |
not provided [RCV002098936] |
Chr5:90763334 [GRCh38] Chr5:90059151 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1278T>C (p.His426=) |
single nucleotide variant |
not provided [RCV002179980] |
Chr5:90628601 [GRCh38] Chr5:89924418 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3635-18T>C |
single nucleotide variant |
not provided [RCV002183529] |
Chr5:90653191 [GRCh38] Chr5:89949008 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7413C>T (p.Ser2471=) |
single nucleotide variant |
not provided [RCV002155229] |
Chr5:90694169 [GRCh38] Chr5:89989986 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2166C>T (p.Asp722=) |
single nucleotide variant |
not provided [RCV002176576] |
Chr5:90637874 [GRCh38] Chr5:89933691 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5856C>T (p.Leu1952=) |
single nucleotide variant |
not provided [RCV002181681] |
Chr5:90683777 [GRCh38] Chr5:89979594 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13410C>A (p.Ile4470=) |
single nucleotide variant |
not provided [RCV002162326] |
Chr5:90783302 [GRCh38] Chr5:90079119 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5148T>A (p.Pro1716=) |
single nucleotide variant |
not provided [RCV002199198] |
Chr5:90675280 [GRCh38] Chr5:89971097 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16611+16A>T |
single nucleotide variant |
not provided [RCV002175219] |
Chr5:90829202 [GRCh38] Chr5:90125019 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14836+19A>G |
single nucleotide variant |
not provided [RCV002155955] |
Chr5:90805477 [GRCh38] Chr5:90101294 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13527G>A (p.Lys4509=) |
single nucleotide variant |
not provided [RCV002140362] |
Chr5:90783931 [GRCh38] Chr5:90079748 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14518-6T>A |
single nucleotide variant |
not provided [RCV002159153] |
Chr5:90802733 [GRCh38] Chr5:90098550 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.561A>C (p.Val187=) |
single nucleotide variant |
not provided [RCV002140551] |
Chr5:90625132 [GRCh38] Chr5:89920949 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18549G>A (p.Thr6183=) |
single nucleotide variant |
not provided [RCV002117547] |
Chr5:91150146 [GRCh38] Chr5:90445963 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15414C>T (p.Pro5138=) |
single nucleotide variant |
not provided [RCV002183113] |
Chr5:90810674 [GRCh38] Chr5:90106491 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14757G>A (p.Ser4919=) |
single nucleotide variant |
not provided [RCV002199795] |
Chr5:90805379 [GRCh38] Chr5:90101196 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1878C>T (p.Ile626=) |
single nucleotide variant |
not provided [RCV002203481] |
Chr5:90635152 [GRCh38] Chr5:89930969 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8825-12A>G |
single nucleotide variant |
not provided [RCV002159751] |
Chr5:90710969 [GRCh38] Chr5:90006786 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7287C>T (p.Val2429=) |
single nucleotide variant |
not provided [RCV002183364] |
Chr5:90694043 [GRCh38] Chr5:89989860 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3234A>G (p.Glu1078=) |
single nucleotide variant |
not provided [RCV002177589] |
Chr5:90647709 [GRCh38] Chr5:89943526 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11758-9T>A |
single nucleotide variant |
not provided [RCV002198204] |
Chr5:90756970 [GRCh38] Chr5:90052787 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10983A>G (p.Leu3661=) |
single nucleotide variant |
not provided [RCV002083809] |
Chr5:90750559 [GRCh38] Chr5:90046376 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.636A>C (p.Ala212=) |
single nucleotide variant |
not provided [RCV002219079] |
Chr5:90625207 [GRCh38] Chr5:89921024 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11385C>T (p.Thr3795=) |
single nucleotide variant |
not provided [RCV002176105] |
Chr5:90754990 [GRCh38] Chr5:90050807 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8583A>G (p.Thr2861=) |
single nucleotide variant |
not provided [RCV002183742] |
Chr5:90706247 [GRCh38] Chr5:90002064 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2553+20C>A |
single nucleotide variant |
not provided [RCV002118533] |
Chr5:90643061 [GRCh38] Chr5:89938878 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15102C>T (p.His5034=) |
single nucleotide variant |
not provided [RCV002178142] |
Chr5:90810362 [GRCh38] Chr5:90106179 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3635-5T>C |
single nucleotide variant |
not provided [RCV002219468] |
Chr5:90653204 [GRCh38] Chr5:89949021 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11941-18C>T |
single nucleotide variant |
not provided [RCV002141382] |
Chr5:90759391 [GRCh38] Chr5:90055208 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7506C>T (p.Asp2502=) |
single nucleotide variant |
not provided [RCV002204035] |
Chr5:90694262 [GRCh38] Chr5:89990079 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10737C>T (p.Ala3579=) |
single nucleotide variant |
not provided [RCV002176221] |
Chr5:90745233 [GRCh38] Chr5:90041050 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16368+19C>T |
single nucleotide variant |
not provided [RCV002140035] |
Chr5:90823615 [GRCh38] Chr5:90119432 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1239-19T>G |
single nucleotide variant |
not provided [RCV002124189] |
Chr5:90628543 [GRCh38] Chr5:89924360 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13434-18C>T |
single nucleotide variant |
not provided [RCV002181662] |
Chr5:90783820 [GRCh38] Chr5:90079637 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17204+6dup |
duplication |
not provided [RCV002082657] |
Chr5:90848826..90848827 [GRCh38] Chr5:90144643..90144644 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14811T>G (p.Val4937=) |
single nucleotide variant |
not provided [RCV002158921] |
Chr5:90805433 [GRCh38] Chr5:90101250 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12348G>A (p.Arg4116=) |
single nucleotide variant |
not provided [RCV002182104] |
Chr5:90774248 [GRCh38] Chr5:90070065 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4379-12C>T |
single nucleotide variant |
not provided [RCV002158603] |
Chr5:90657893 [GRCh38] Chr5:89953710 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8746C>T (p.Leu2916=) |
single nucleotide variant |
not provided [RCV002181809] |
Chr5:90708831 [GRCh38] Chr5:90004648 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6491-9T>G |
single nucleotide variant |
not provided [RCV002144355] |
Chr5:90689852 [GRCh38] Chr5:89985669 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2017-16C>A |
single nucleotide variant |
not provided [RCV002219805] |
Chr5:90637709 [GRCh38] Chr5:89933526 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14868G>A (p.Arg4956=) |
single nucleotide variant |
not provided [RCV002180038] |
Chr5:90807633 [GRCh38] Chr5:90103450 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9009A>G (p.Ala3003=) |
single nucleotide variant |
not provided [RCV002180045] |
Chr5:90711289 [GRCh38] Chr5:90007106 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17756-17del |
deletion |
not provided [RCV002161231] |
Chr5:90863740 [GRCh38] Chr5:90159557 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3289+21dup |
duplication |
not provided [RCV002101337] |
Chr5:90647779..90647780 [GRCh38] Chr5:89943596..89943597 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.11941-13C>G |
single nucleotide variant |
not provided [RCV002202709] |
Chr5:90759396 [GRCh38] Chr5:90055213 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2553+13A>G |
single nucleotide variant |
not provided [RCV002138810] |
Chr5:90643054 [GRCh38] Chr5:89938871 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3786T>C (p.Asp1262=) |
single nucleotide variant |
not provided [RCV002099707] |
Chr5:90653360 [GRCh38] Chr5:89949177 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8864A>G (p.Asn2955Ser) |
single nucleotide variant |
not provided [RCV003110813] |
Chr5:90711020 [GRCh38] Chr5:90006837 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.15633T>C (p.Thr5211=) |
single nucleotide variant |
not provided [RCV003115912] |
Chr5:90810893 [GRCh38] Chr5:90106710 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11522C>T (p.Thr3841Ile) |
single nucleotide variant |
not provided [RCV003112685] |
Chr5:90755127 [GRCh38] Chr5:90050944 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2063T>A (p.Val688Asp) |
single nucleotide variant |
not provided [RCV003117241] |
Chr5:90637771 [GRCh38] Chr5:89933588 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NC_000005.9:g.(?_89854713)_(90459717_?)del |
deletion |
not provided [RCV003122839] |
Chr5:89854713..90459717 [GRCh37] Chr5:5q14.3 |
pathogenic |
NC_000005.9:g.(?_89854713)_(89854754_?)del |
deletion |
not provided [RCV003122840] |
Chr5:89854713..89854754 [GRCh37] Chr5:5q14.3 |
pathogenic |
NC_000005.9:g.(?_89953702)_(89954115_?)del |
deletion |
not provided [RCV003122841] |
Chr5:89953702..89954115 [GRCh37] Chr5:5q14.3 |
pathogenic |
NC_000005.9:g.(?_89999462)_(89999632_?)del |
deletion |
not provided [RCV003122842] |
Chr5:89999462..89999632 [GRCh37] Chr5:5q14.3 |
pathogenic |
NC_000005.9:g.(?_89930911)_(90079894_?)del |
deletion |
not provided [RCV003122843] |
Chr5:89930911..90079894 [GRCh37] Chr5:5q14.3 |
pathogenic |
NC_000005.9:g.(?_89940503)_(89986878_?)del |
deletion |
not provided [RCV003122844] |
Chr5:89940503..89986878 [GRCh37] Chr5:5q14.3 |
pathogenic |
NC_000005.9:g.(?_89910632)_(90002231_?)del |
deletion |
not provided [RCV003122845] |
Chr5:89910632..90002231 [GRCh37] Chr5:5q14.3 |
pathogenic |
NC_000005.9:g.(?_89969851)_(89975466_?)del |
deletion |
not provided [RCV003122846] |
Chr5:89969851..89975466 [GRCh37] Chr5:5q14.3 |
pathogenic |
NC_000005.9:g.(?_89918394)_(90059306_?)del |
deletion |
not provided [RCV003122847] |
Chr5:89918394..90059306 [GRCh37] Chr5:5q14.3 |
pathogenic |
NC_000005.9:g.(?_90046348)_(90049666_?)del |
deletion |
not provided [RCV003122848] |
Chr5:90046348..90049666 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1850_1851del (p.Val617fs) |
microsatellite |
ADGRV1-Related Disorders [RCV003123535] |
Chr5:90635122..90635123 [GRCh38] Chr5:89930939..89930940 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.3222A>G (p.Ile1074Met) |
single nucleotide variant |
not provided [RCV002247178] |
Chr5:90647697 [GRCh38] Chr5:89943514 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9754A>G (p.Met3252Val) |
single nucleotide variant |
not provided [RCV003235891] |
Chr5:90724837 [GRCh38] Chr5:90020654 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6620A>G (p.Asn2207Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003295784] |
Chr5:90689990 [GRCh38] Chr5:89985807 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.5638G>A (p.Asp1880Asn) |
single nucleotide variant |
not provided [RCV002272070] |
Chr5:90681428 [GRCh38] Chr5:89977245 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3901G>T (p.Asp1301Tyr) |
single nucleotide variant |
Usher syndrome type 2C [RCV002272592] |
Chr5:90653475 [GRCh38] Chr5:89949292 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NC_000005.9:g.(?_88625195)_(90796047_?)inv |
inversion |
Intellectual disability, autosomal dominant 20 [RCV002286878] |
Chr5:88625195..90796047 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.10309T>C (p.Trp3437Arg) |
single nucleotide variant |
not provided [RCV002276131] |
Chr5:90728816 [GRCh38] Chr5:90024633 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16619G>A (p.Arg5540Lys) |
single nucleotide variant |
not provided [RCV002274625] |
Chr5:90840585 [GRCh38] Chr5:90136402 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.22+25188A>C |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV002275654] |
Chr5:90584105 [GRCh38] Chr5:89879922 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12305T>C (p.Ile4102Thr) |
single nucleotide variant |
not provided [RCV002290928] |
Chr5:90774205 [GRCh38] Chr5:90070022 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14128_14129del (p.Glu4709_Ser4710insTer) |
microsatellite |
not provided [RCV002276324] |
Chr5:90790952..90790953 [GRCh38] Chr5:90086769..90086770 [GRCh37] Chr5:5q14.3 |
pathogenic |
NC_000005.9:g.(90136803_90144453)_(90159675_90261231)dup |
duplication |
Usher syndrome [RCV002281823] |
Chr5:90144453..90159675 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.3031G>A (p.Val1011Ile) |
single nucleotide variant |
not provided [RCV002292060] |
Chr5:90647506 [GRCh38] Chr5:89943323 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17645A>G (p.Tyr5882Cys) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV002274392] |
Chr5:90855791 [GRCh38] Chr5:90151608 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.2401T>C (p.Ser801Pro) |
single nucleotide variant |
not provided [RCV002297157] |
Chr5:90642889 [GRCh38] Chr5:89938706 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3826G>A (p.Gly1276Ser) |
single nucleotide variant |
not specified [RCV003236297] |
Chr5:90653400 [GRCh38] Chr5:89949217 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2399G>A (p.Arg800Gln) |
single nucleotide variant |
not provided [RCV002286180]|not specified [RCV002308483] |
Chr5:90642887 [GRCh38] Chr5:89938704 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4378+3G>T |
single nucleotide variant |
not provided [RCV002281234] |
Chr5:90653955 [GRCh38] Chr5:89949772 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16196+1G>T |
single nucleotide variant |
Usher syndrome [RCV002266138] |
Chr5:90815737 [GRCh38] Chr5:90111554 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.13048T>C (p.Ser4350Pro) |
single nucleotide variant |
not specified [RCV002281824] |
Chr5:90779063 [GRCh38] Chr5:90074880 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.263C>T (p.Pro88Leu) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV002289108] |
Chr5:90617859 [GRCh38] Chr5:89913676 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6778C>T (p.Arg2260Ter) |
single nucleotide variant |
Usher syndrome [RCV002282930] |
Chr5:90690868 [GRCh38] Chr5:89986685 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.18092T>C (p.Ile6031Thr) |
single nucleotide variant |
not provided [RCV002293630] |
Chr5:90985462 [GRCh38] Chr5:90281279 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7049G>A (p.Gly2350Asp) |
single nucleotide variant |
not provided [RCV002297056] |
Chr5:90692702 [GRCh38] Chr5:89988519 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7087G>C (p.Glu2363Gln) |
single nucleotide variant |
not provided [RCV002286962] |
Chr5:90692740 [GRCh38] Chr5:89988557 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11060G>A (p.Arg3687His) |
single nucleotide variant |
not provided [RCV003236071] |
Chr5:90750636 [GRCh38] Chr5:90046453 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8351T>G (p.Val2784Gly) |
single nucleotide variant |
not provided [RCV002297760] |
Chr5:90704453 [GRCh38] Chr5:90000270 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14738G>T (p.Gly4913Val) |
single nucleotide variant |
not provided [RCV002297353] |
Chr5:90805360 [GRCh38] Chr5:90101177 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8347G>T (p.Glu2783Ter) |
single nucleotide variant |
not provided [RCV002293742] |
Chr5:90704449 [GRCh38] Chr5:90000266 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.5563_5564delinsAA (p.Ala1855Lys) |
indel |
not provided [RCV002297235] |
Chr5:90681353..90681354 [GRCh38] Chr5:89977170..89977171 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5554G>C (p.Val1852Leu) |
single nucleotide variant |
not provided [RCV002283183] |
Chr5:90681344 [GRCh38] Chr5:89977161 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8311G>A (p.Val2771Met) |
single nucleotide variant |
not provided [RCV002281464] |
Chr5:90704413 [GRCh38] Chr5:90000230 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1868T>G (p.Ile623Ser) |
single nucleotide variant |
not provided [RCV003152035] |
Chr5:90635142 [GRCh38] Chr5:89930959 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10195C>T (p.His3399Tyr) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV003448495]|Inborn genetic diseases [RCV003299222] |
Chr5:90728702 [GRCh38] Chr5:90024519 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3209A>G (p.Gln1070Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003285824] |
Chr5:90647684 [GRCh38] Chr5:89943501 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17247G>C (p.Leu5749Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003281912] |
Chr5:90853326 [GRCh38] Chr5:90149143 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3G>A (p.Met1Ile) |
single nucleotide variant |
not provided [RCV003129311] |
Chr5:90558898 [GRCh38] Chr5:89854715 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.7915G>A (p.Gly2639Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003280625] |
Chr5:90694671 [GRCh38] Chr5:89990488 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16759T>A (p.Ser5587Thr) |
single nucleotide variant |
not provided [RCV003129344] |
Chr5:90840725 [GRCh38] Chr5:90136542 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16549A>G (p.Ser5517Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003288128] |
Chr5:90829124 [GRCh38] Chr5:90124941 [GRCh37] Chr5:5q14.3 |
uncertain significance |
GRCh37/hg19 5q14.3(chr5:89869634-89956672)x1 |
copy number loss |
not provided [RCV002474988] |
Chr5:89869634..89956672 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18816T>G (p.Ser6272Arg) |
single nucleotide variant |
not provided [RCV002474039] |
Chr5:91163795 [GRCh38] Chr5:90459612 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9896T>A (p.Ile3299Asn) |
single nucleotide variant |
not provided [RCV002474050] |
Chr5:90724979 [GRCh38] Chr5:90020796 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9906+9C>T |
single nucleotide variant |
not provided [RCV002475082] |
Chr5:90724998 [GRCh38] Chr5:90020815 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2959G>C (p.Val987Leu) |
single nucleotide variant |
not provided [RCV002858397] |
Chr5:90646028 [GRCh38] Chr5:89941845 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18376A>T (p.Met6126Leu) |
single nucleotide variant |
not provided [RCV002303469] |
Chr5:91102284 [GRCh38] Chr5:90398101 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18646del (p.Ala6216fs) |
deletion |
Usher syndrome [RCV002470139] |
Chr5:91153242 [GRCh38] Chr5:90449059 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.6024G>T (p.Met2008Ile) |
single nucleotide variant |
not provided [RCV002837766] |
Chr5:90683945 [GRCh38] Chr5:89979762 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3572C>T (p.Ala1191Val) |
single nucleotide variant |
not provided [RCV002464871] |
Chr5:90652501 [GRCh38] Chr5:89948318 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18082C>T (p.Leu6028Phe) |
single nucleotide variant |
Usher syndrome type 2C [RCV002466894]|not provided [RCV002573585] |
Chr5:90985452 [GRCh38] Chr5:90281269 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6808G>T (p.Val2270Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003365776]|not provided [RCV002681949] |
Chr5:90690898 [GRCh38] Chr5:89986715 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2033A>G (p.His678Arg) |
single nucleotide variant |
not provided [RCV002303092] |
Chr5:90637741 [GRCh38] Chr5:89933558 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4342G>C (p.Gly1448Arg) |
single nucleotide variant |
not provided [RCV002727162] |
Chr5:90653916 [GRCh38] Chr5:89949733 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4369A>G (p.Ile1457Val) |
single nucleotide variant |
not provided [RCV002295863] |
Chr5:90653943 [GRCh38] Chr5:89949760 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13139T>C (p.Ile4380Thr) |
single nucleotide variant |
not provided [RCV002295041] |
Chr5:90781486 [GRCh38] Chr5:90077303 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14438T>A (p.Val4813Asp) |
single nucleotide variant |
not provided [RCV003237093] |
Chr5:90791267 [GRCh38] Chr5:90087084 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16735G>A (p.Val5579Ile) |
single nucleotide variant |
not provided [RCV002304305] |
Chr5:90840701 [GRCh38] Chr5:90136518 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18728G>C (p.Gly6243Ala) |
single nucleotide variant |
not provided [RCV002304528] |
Chr5:91153324 [GRCh38] Chr5:90449141 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10405T>C (p.Phe3469Leu) |
single nucleotide variant |
not provided [RCV002296329] |
Chr5:90728912 [GRCh38] Chr5:90024729 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14626G>C (p.Val4876Leu) |
single nucleotide variant |
not provided [RCV002299062] |
Chr5:90802847 [GRCh38] Chr5:90098664 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6739C>A (p.Pro2247Thr) |
single nucleotide variant |
not provided [RCV002303636] |
Chr5:90690829 [GRCh38] Chr5:89986646 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17358G>T (p.Met5786Ile) |
single nucleotide variant |
not provided [RCV002299094] |
Chr5:90853437 [GRCh38] Chr5:90149254 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1525C>G (p.Gln509Glu) |
single nucleotide variant |
not provided [RCV002303671] |
Chr5:90629225 [GRCh38] Chr5:89925042 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2930T>A (p.Ile977Asn) |
single nucleotide variant |
not provided [RCV002299220] |
Chr5:90645999 [GRCh38] Chr5:89941816 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15017A>G (p.Gln5006Arg) |
single nucleotide variant |
not provided [RCV002301492] |
Chr5:90810277 [GRCh38] Chr5:90106094 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4919A>G (p.Gln1640Arg) |
single nucleotide variant |
not provided [RCV002301219] |
Chr5:90672712 [GRCh38] Chr5:89968529 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.501G>T (p.Met167Ile) |
single nucleotide variant |
not provided [RCV002306332] |
Chr5:90622644 [GRCh38] Chr5:89918461 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9206A>G (p.Asn3069Ser) |
single nucleotide variant |
not provided [RCV002299390] |
Chr5:90716488 [GRCh38] Chr5:90012305 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13811T>C (p.Val4604Ala) |
single nucleotide variant |
not provided [RCV002296305] |
Chr5:90788228 [GRCh38] Chr5:90084045 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13397G>C (p.Ser4466Thr) |
single nucleotide variant |
not provided [RCV002299439] |
Chr5:90783289 [GRCh38] Chr5:90079106 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14294C>T (p.Ala4765Val) |
single nucleotide variant |
not provided [RCV002295623] |
Chr5:90791123 [GRCh38] Chr5:90086940 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9760G>A (p.Val3254Ile) |
single nucleotide variant |
not provided [RCV002296448] |
Chr5:90724843 [GRCh38] Chr5:90020660 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12974A>C (p.Glu4325Ala) |
single nucleotide variant |
not provided [RCV002301033] |
Chr5:90778989 [GRCh38] Chr5:90074806 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11536A>G (p.Lys3846Glu) |
single nucleotide variant |
not provided [RCV002295530] |
Chr5:90755141 [GRCh38] Chr5:90050958 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3876C>G (p.Phe1292Leu) |
single nucleotide variant |
not provided [RCV002296006] |
Chr5:90653450 [GRCh38] Chr5:89949267 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13758A>T (p.Glu4586Asp) |
single nucleotide variant |
not provided [RCV002299053] |
Chr5:90788175 [GRCh38] Chr5:90083992 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7585G>T (p.Asp2529Tyr) |
single nucleotide variant |
not provided [RCV002295736] |
Chr5:90694341 [GRCh38] Chr5:89990158 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7151G>T (p.Arg2384Leu) |
single nucleotide variant |
not provided [RCV002301239] |
Chr5:90693907 [GRCh38] Chr5:89989724 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15694G>C (p.Glu5232Gln) |
single nucleotide variant |
not provided [RCV002301534] |
Chr5:90810954 [GRCh38] Chr5:90106771 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4084A>G (p.Met1362Val) |
single nucleotide variant |
not provided [RCV002296283] |
Chr5:90653658 [GRCh38] Chr5:89949475 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11623A>G (p.Thr3875Ala) |
single nucleotide variant |
not provided [RCV002295543] |
Chr5:90756496 [GRCh38] Chr5:90052313 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10198C>T (p.Gln3400Ter) |
single nucleotide variant |
Usher syndrome type 2C [RCV002444381] |
Chr5:90728705 [GRCh38] Chr5:90024522 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.4117G>C (p.Ala1373Pro) |
single nucleotide variant |
not provided [RCV002301091] |
Chr5:90653691 [GRCh38] Chr5:89949508 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.283A>C (p.Thr95Pro) |
single nucleotide variant |
not provided [RCV002296465] |
Chr5:90617879 [GRCh38] Chr5:89913696 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5718C>A (p.Asp1906Glu) |
single nucleotide variant |
not provided [RCV002303262] |
Chr5:90683639 [GRCh38] Chr5:89979456 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14967A>C (p.Gln4989His) |
single nucleotide variant |
not provided [RCV002306303] |
Chr5:90807732 [GRCh38] Chr5:90103549 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18856G>T (p.Gly6286Cys) |
single nucleotide variant |
not provided [RCV002299246] |
Chr5:91163835 [GRCh38] Chr5:90459652 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.896A>T (p.Tyr299Phe) |
single nucleotide variant |
not provided [RCV002301653] |
Chr5:90627434 [GRCh38] Chr5:89923251 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12304A>C (p.Ile4102Leu) |
single nucleotide variant |
not provided [RCV002296099] |
Chr5:90774204 [GRCh38] Chr5:90070021 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2912T>A (p.Met971Lys) |
single nucleotide variant |
not provided [RCV002302408] |
Chr5:90645981 [GRCh38] Chr5:89941798 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14991T>C (p.Ala4997=) |
single nucleotide variant |
not provided [RCV002862325] |
Chr5:90810251 [GRCh38] Chr5:90106068 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10943A>G (p.Asp3648Gly) |
single nucleotide variant |
not provided [RCV002971848] |
Chr5:90745764 [GRCh38] Chr5:90041581 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.372T>C (p.Asn124=) |
single nucleotide variant |
not provided [RCV002862333] |
Chr5:90619100 [GRCh38] Chr5:89914917 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18485C>G (p.Pro6162Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002840365] |
Chr5:91150082 [GRCh38] Chr5:90445899 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18559G>C (p.Gly6187Arg) |
single nucleotide variant |
not provided [RCV002776582] |
Chr5:91150156 [GRCh38] Chr5:90445973 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16430T>C (p.Ile5477Thr) |
single nucleotide variant |
not provided [RCV002462513] |
Chr5:90829005 [GRCh38] Chr5:90124822 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.593del (p.Asp197_Leu198insTer) |
deletion |
not provided [RCV002839091] |
Chr5:90625162 [GRCh38] Chr5:89920979 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1336A>G (p.Thr446Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002907174] |
Chr5:90628659 [GRCh38] Chr5:89924476 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3355G>A (p.Gly1119Ser) |
single nucleotide variant |
not provided [RCV002839138] |
Chr5:90651669 [GRCh38] Chr5:89947486 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18260C>G (p.Pro6087Arg) |
single nucleotide variant |
not provided [RCV002816496] |
Chr5:91072554 [GRCh38] Chr5:90368371 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14782C>T (p.Pro4928Ser) |
single nucleotide variant |
not provided [RCV002838751] |
Chr5:90805404 [GRCh38] Chr5:90101221 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16196+13A>G |
single nucleotide variant |
not provided [RCV002681592] |
Chr5:90815749 [GRCh38] Chr5:90111566 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14764T>C (p.Trp4922Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002773395] |
Chr5:90805386 [GRCh38] Chr5:90101203 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13041G>A (p.Glu4347=) |
single nucleotide variant |
not provided [RCV003014537] |
Chr5:90779056 [GRCh38] Chr5:90074873 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13273_13280del (p.Leu4425fs) |
deletion |
Usher syndrome [RCV002510445]|not provided [RCV002574736] |
Chr5:90783163..90783170 [GRCh38] Chr5:90078980..90078987 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.10223T>C (p.Leu3408Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002728142] |
Chr5:90728730 [GRCh38] Chr5:90024547 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9413G>A (p.Gly3138Asp) |
single nucleotide variant |
not provided [RCV003016029] |
Chr5:90716695 [GRCh38] Chr5:90012512 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1166C>G (p.Pro389Arg) |
single nucleotide variant |
not provided [RCV002994009] |
Chr5:90627704 [GRCh38] Chr5:89923521 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.505C>G (p.Leu169Val) |
single nucleotide variant |
not provided [RCV002681871] |
Chr5:90622648 [GRCh38] Chr5:89918465 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5911G>A (p.Ala1971Thr) |
single nucleotide variant |
not provided [RCV003033100] |
Chr5:90683832 [GRCh38] Chr5:89979649 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4079G>C (p.Trp1360Ser) |
single nucleotide variant |
not provided [RCV002903435] |
Chr5:90653653 [GRCh38] Chr5:89949470 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6142C>T (p.Leu2048Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002728143] |
Chr5:90684063 [GRCh38] Chr5:89979880 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4058C>A (p.Ala1353Asp) |
single nucleotide variant |
not provided [RCV002839508] |
Chr5:90653632 [GRCh38] Chr5:89949449 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2923A>G (p.Thr975Ala) |
single nucleotide variant |
not provided [RCV002681564] |
Chr5:90645992 [GRCh38] Chr5:89941809 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.8471G>A (p.Gly2824Glu) |
single nucleotide variant |
not provided [RCV002726198] |
Chr5:90705484 [GRCh38] Chr5:90001301 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10388A>G (p.Asn3463Ser) |
single nucleotide variant |
not provided [RCV002751345] |
Chr5:90728895 [GRCh38] Chr5:90024712 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3236A>T (p.Asp1079Val) |
single nucleotide variant |
not provided [RCV002838787] |
Chr5:90647711 [GRCh38] Chr5:89943528 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8692G>C (p.Gly2898Arg) |
single nucleotide variant |
not provided [RCV002775442] |
Chr5:90706356 [GRCh38] Chr5:90002173 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17985C>T (p.Phe5995=) |
single nucleotide variant |
not provided [RCV002750552] |
Chr5:90985355 [GRCh38] Chr5:90281172 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14308C>T (p.Arg4770Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002970380] |
Chr5:90791137 [GRCh38] Chr5:90086954 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.1498G>A (p.Glu500Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002861146] |
Chr5:90628821 [GRCh38] Chr5:89924638 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1555dup (p.Thr519fs) |
duplication |
not provided [RCV002863028] |
Chr5:90629253..90629254 [GRCh38] Chr5:89925070..89925071 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.4895G>A (p.Gly1632Glu) |
single nucleotide variant |
not provided [RCV002750573] |
Chr5:90672688 [GRCh38] Chr5:89968505 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17869G>T (p.Ala5957Ser) |
single nucleotide variant |
not provided [RCV002991775] |
Chr5:90965427 [GRCh38] Chr5:90261244 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14591G>T (p.Gly4864Val) |
single nucleotide variant |
not provided [RCV002861390] |
Chr5:90802812 [GRCh38] Chr5:90098629 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18006T>C (p.Asn6002=) |
single nucleotide variant |
not provided [RCV002730203] |
Chr5:90985376 [GRCh38] Chr5:90281193 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6934G>C (p.Val2312Leu) |
single nucleotide variant |
not provided [RCV002681340] |
Chr5:90691024 [GRCh38] Chr5:89986841 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.1510-18T>A |
single nucleotide variant |
not provided [RCV003011801] |
Chr5:90629192 [GRCh38] Chr5:89925009 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7663A>T (p.Lys2555Ter) |
single nucleotide variant |
not provided [RCV003012250] |
Chr5:90694419 [GRCh38] Chr5:89990236 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.4884T>C (p.Ala1628=) |
single nucleotide variant |
not provided [RCV002819344] |
Chr5:90672677 [GRCh38] Chr5:89968494 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10162-7C>T |
single nucleotide variant |
not provided [RCV002690484] |
Chr5:90728662 [GRCh38] Chr5:90024479 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13691C>G (p.Ala4564Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002901827] |
Chr5:90788108 [GRCh38] Chr5:90083925 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7003G>T (p.Asp2335Tyr) |
single nucleotide variant |
not provided [RCV002731253] |
Chr5:90692656 [GRCh38] Chr5:89988473 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9803C>A (p.Ser3268Tyr) |
single nucleotide variant |
not provided [RCV002755159] |
Chr5:90724886 [GRCh38] Chr5:90020703 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5333A>C (p.Glu1778Ala) |
single nucleotide variant |
not provided [RCV002617875] |
Chr5:90676099 [GRCh38] Chr5:89971916 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2313C>T (p.Asp771=) |
single nucleotide variant |
not provided [RCV003016676] |
Chr5:90642708 [GRCh38] Chr5:89938525 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2307T>C (p.Asn769=) |
single nucleotide variant |
not provided [RCV002755889] |
Chr5:90642702 [GRCh38] Chr5:89938519 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14594T>C (p.Met4865Thr) |
single nucleotide variant |
not provided [RCV003034482] |
Chr5:90802815 [GRCh38] Chr5:90098632 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11412A>G (p.Arg3804=) |
single nucleotide variant |
not provided [RCV002839136] |
Chr5:90755017 [GRCh38] Chr5:90050834 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14916C>G (p.Ala4972=) |
single nucleotide variant |
not provided [RCV002686063] |
Chr5:90807681 [GRCh38] Chr5:90103498 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8406C>T (p.Ile2802=) |
single nucleotide variant |
not provided [RCV002616275] |
Chr5:90705419 [GRCh38] Chr5:90001236 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7405T>C (p.Trp2469Arg) |
single nucleotide variant |
not provided [RCV003017005] |
Chr5:90694161 [GRCh38] Chr5:89989978 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16197-4A>T |
single nucleotide variant |
not provided [RCV002866012] |
Chr5:90823421 [GRCh38] Chr5:90119238 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5656dup (p.Thr1886fs) |
duplication |
not provided [RCV002866112] |
Chr5:90681445..90681446 [GRCh38] Chr5:89977262..89977263 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.3614T>C (p.Leu1205Pro) |
single nucleotide variant |
not provided [RCV002996637] |
Chr5:90652543 [GRCh38] Chr5:89948360 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16368+14A>G |
single nucleotide variant |
not provided [RCV002613858] |
Chr5:90823610 [GRCh38] Chr5:90119427 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5665-231C>T |
single nucleotide variant |
Usher syndrome type 2C [RCV002510603] |
Chr5:90683355 [GRCh38] Chr5:89979172 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.6077dup (p.Tyr2026Ter) |
duplication |
Usher syndrome type 2C [RCV002510604] |
Chr5:90683997..90683998 [GRCh38] Chr5:89979814..89979815 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.2265G>A (p.Leu755=) |
single nucleotide variant |
not provided [RCV002996474] |
Chr5:90642660 [GRCh38] Chr5:89938477 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10047A>C (p.Leu3349Phe) |
single nucleotide variant |
not provided [RCV002843791] |
Chr5:90725226 [GRCh38] Chr5:90021043 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15722C>T (p.Ala5241Val) |
single nucleotide variant |
not provided [RCV002820113] |
Chr5:90810982 [GRCh38] Chr5:90106799 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6707-16T>C |
single nucleotide variant |
not provided [RCV003014196] |
Chr5:90690781 [GRCh38] Chr5:89986598 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8237A>C (p.Asn2746Thr) |
single nucleotide variant |
not provided [RCV002755220] |
Chr5:90703746 [GRCh38] Chr5:89999563 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9185-16A>T |
single nucleotide variant |
not provided [RCV002843399] |
Chr5:90716451 [GRCh38] Chr5:90012268 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2981C>T (p.Thr994Ile) |
single nucleotide variant |
not provided [RCV002618654] |
Chr5:90646050 [GRCh38] Chr5:89941867 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10659T>C (p.Ser3553=) |
single nucleotide variant |
not provided [RCV002618918] |
Chr5:90745155 [GRCh38] Chr5:90040972 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14179G>C (p.Glu4727Gln) |
single nucleotide variant |
not provided [RCV002685506] |
Chr5:90791008 [GRCh38] Chr5:90086825 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3265T>C (p.Tyr1089His) |
single nucleotide variant |
not provided [RCV002815763] |
Chr5:90647740 [GRCh38] Chr5:89943557 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18380C>G (p.Ala6127Gly) |
single nucleotide variant |
not provided [RCV002617537] |
Chr5:91102288 [GRCh38] Chr5:90398105 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6931G>A (p.Asp2311Asn) |
single nucleotide variant |
not provided [RCV002690335] |
Chr5:90691021 [GRCh38] Chr5:89986838 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.18376A>G (p.Met6126Val) |
single nucleotide variant |
not provided [RCV002618739] |
Chr5:91102284 [GRCh38] Chr5:90398101 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7041T>G (p.Asp2347Glu) |
single nucleotide variant |
not provided [RCV002996947] |
Chr5:90692694 [GRCh38] Chr5:89988511 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.132T>C (p.Asn44=) |
single nucleotide variant |
not provided [RCV002685606] |
Chr5:90614944 [GRCh38] Chr5:89910761 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.16002C>T (p.Asn5334=) |
single nucleotide variant |
not provided [RCV002685609] |
Chr5:90811262 [GRCh38] Chr5:90107079 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10720C>T (p.His3574Tyr) |
single nucleotide variant |
not provided [RCV002511239] |
Chr5:90745216 [GRCh38] Chr5:90041033 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4011T>C (p.Phe1337=) |
single nucleotide variant |
not provided [RCV002863279] |
Chr5:90653585 [GRCh38] Chr5:89949402 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9043-20G>A |
single nucleotide variant |
not provided [RCV003034840] |
Chr5:90712267 [GRCh38] Chr5:90008084 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12019A>C (p.Ser4007Arg) |
single nucleotide variant |
not provided [RCV002947342] |
Chr5:90759487 [GRCh38] Chr5:90055304 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9043-3C>T |
single nucleotide variant |
not provided [RCV002975054] |
Chr5:90712284 [GRCh38] Chr5:90008101 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18146G>A (p.Gly6049Asp) |
single nucleotide variant |
not provided [RCV002975141] |
Chr5:90985516 [GRCh38] Chr5:90281333 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7119A>G (p.Ile2373Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002794670] |
Chr5:90692772 [GRCh38] Chr5:89988589 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11940+11C>A |
single nucleotide variant |
not provided [RCV002755793] |
Chr5:90757172 [GRCh38] Chr5:90052989 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3149G>A (p.Arg1050Lys) |
single nucleotide variant |
not provided [RCV002819256] |
Chr5:90647624 [GRCh38] Chr5:89943441 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16097G>C (p.Gly5366Ala) |
single nucleotide variant |
not provided [RCV002461781] |
Chr5:90815637 [GRCh38] Chr5:90111454 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3151_3152del (p.Asp1051fs) |
microsatellite |
not provided [RCV002511490] |
Chr5:90647617..90647618 [GRCh38] Chr5:89943434..89943435 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.5373C>T (p.Asn1791=) |
single nucleotide variant |
not provided [RCV002819694] |
Chr5:90676139 [GRCh38] Chr5:89971956 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12976G>A (p.Ala4326Thr) |
single nucleotide variant |
not provided [RCV002838143] |
Chr5:90778991 [GRCh38] Chr5:90074808 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7436_7437insTACTT (p.Trp2480fs) |
insertion |
not provided [RCV002756390] |
Chr5:90694188..90694189 [GRCh38] Chr5:89990005..89990006 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.12632G>T (p.Arg4211Leu) |
single nucleotide variant |
not provided [RCV002690393] |
Chr5:90778009 [GRCh38] Chr5:90073826 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6021C>T (p.Leu2007=) |
single nucleotide variant |
not provided [RCV002995160] |
Chr5:90683942 [GRCh38] Chr5:89979759 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3417-20T>A |
single nucleotide variant |
not provided [RCV003035205] |
Chr5:90652326 [GRCh38] Chr5:89948143 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6563A>G (p.Tyr2188Cys) |
single nucleotide variant |
not provided [RCV002838956] |
Chr5:90689933 [GRCh38] Chr5:89985750 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17856+5_17856+7del |
deletion |
not provided [RCV002685515] |
Chr5:90863860..90863862 [GRCh38] Chr5:90159677..90159679 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5443+16C>T |
single nucleotide variant |
not provided [RCV002681391] |
Chr5:90676225 [GRCh38] Chr5:89972042 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11713G>T (p.Glu3905Ter) |
single nucleotide variant |
not provided [RCV002880275] |
Chr5:90756586 [GRCh38] Chr5:90052403 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.7775A>G (p.Asp2592Gly) |
single nucleotide variant |
not provided [RCV002861388] |
Chr5:90694531 [GRCh38] Chr5:89990348 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18433-1G>A |
single nucleotide variant |
not provided [RCV003013906] |
Chr5:91150029 [GRCh38] Chr5:90445846 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.4371dup (p.Thr1458fs) |
duplication |
not provided [RCV002730246] |
Chr5:90653943..90653944 [GRCh38] Chr5:89949760..89949761 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.14687A>T (p.Gln4896Leu) |
single nucleotide variant |
not provided [RCV003032400] |
Chr5:90805309 [GRCh38] Chr5:90101126 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10263A>G (p.Leu3421=) |
single nucleotide variant |
not provided [RCV003012078] |
Chr5:90728770 [GRCh38] Chr5:90024587 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.298G>A (p.Val100Ile) |
single nucleotide variant |
not provided [RCV003033401] |
Chr5:90617894 [GRCh38] Chr5:89913711 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3649C>T (p.Pro1217Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002777424] |
Chr5:90653223 [GRCh38] Chr5:89949040 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8493A>G (p.Ser2831=) |
single nucleotide variant |
not provided [RCV003012077] |
Chr5:90705506 [GRCh38] Chr5:90001323 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18375C>T (p.His6125=) |
single nucleotide variant |
not provided [RCV003012256] |
Chr5:91102283 [GRCh38] Chr5:90398100 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.454C>T (p.Leu152Phe) |
single nucleotide variant |
not provided [RCV002863627] |
Chr5:90622597 [GRCh38] Chr5:89918414 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4494T>A (p.Leu1498=) |
single nucleotide variant |
not provided [RCV002996227] |
Chr5:90658020 [GRCh38] Chr5:89953837 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4688T>G (p.Leu1563Ter) |
single nucleotide variant |
not provided [RCV002882070] |
Chr5:90658214 [GRCh38] Chr5:89954031 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.11874A>G (p.Ser3958=) |
single nucleotide variant |
not provided [RCV002838266] |
Chr5:90757095 [GRCh38] Chr5:90052912 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1567A>T (p.Met523Leu) |
single nucleotide variant |
not provided [RCV002750676] |
Chr5:90629267 [GRCh38] Chr5:89925084 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6274+9C>T |
single nucleotide variant |
not provided [RCV002905037] |
Chr5:90684204 [GRCh38] Chr5:89980021 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2899-16G>A |
single nucleotide variant |
not provided [RCV002755445] |
Chr5:90645952 [GRCh38] Chr5:89941769 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18624+11_18624+14dup |
duplication |
not provided [RCV002615473] |
Chr5:91150230..91150231 [GRCh38] Chr5:90446047..90446048 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15414del (p.Glu5139fs) |
deletion |
not provided [RCV002862410] |
Chr5:90810671 [GRCh38] Chr5:90106488 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.10310G>A (p.Trp3437Ter) |
single nucleotide variant |
not provided [RCV002902958] |
Chr5:90728817 [GRCh38] Chr5:90024634 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.5313+12del |
deletion |
not provided [RCV003013303] |
Chr5:90675457 [GRCh38] Chr5:89971274 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15185A>T (p.Glu5062Val) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV002510618] |
Chr5:90810445 [GRCh38] Chr5:90106262 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8128G>T (p.Ala2710Ser) |
single nucleotide variant |
not provided [RCV002614225] |
Chr5:90697119 [GRCh38] Chr5:89992936 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9873T>G (p.Val3291=) |
single nucleotide variant |
not provided [RCV002685398] |
Chr5:90724956 [GRCh38] Chr5:90020773 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7314C>T (p.Thr2438=) |
single nucleotide variant |
not provided [RCV003012570] |
Chr5:90694070 [GRCh38] Chr5:89989887 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10386C>T (p.Ala3462=) |
single nucleotide variant |
not provided [RCV002839281] |
Chr5:90728893 [GRCh38] Chr5:90024710 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.625C>A (p.Pro209Thr) |
single nucleotide variant |
not provided [RCV002993946] |
Chr5:90625196 [GRCh38] Chr5:89921013 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.72C>T (p.Ile24=) |
single nucleotide variant |
not provided [RCV002880286] |
Chr5:90614884 [GRCh38] Chr5:89910701 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8314C>T (p.His2772Tyr) |
single nucleotide variant |
not provided [RCV003014264] |
Chr5:90704416 [GRCh38] Chr5:90000233 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1739G>C (p.Arg580Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002617051]|not provided [RCV002617050] |
Chr5:90629439 [GRCh38] Chr5:89925256 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.9184+10A>G |
single nucleotide variant |
not provided [RCV002903559] |
Chr5:90712438 [GRCh38] Chr5:90008255 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10263A>C (p.Leu3421Phe) |
single nucleotide variant |
not provided [RCV002681167] |
Chr5:90728770 [GRCh38] Chr5:90024587 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18802+20C>T |
single nucleotide variant |
not provided [RCV002681132] |
Chr5:91153418 [GRCh38] Chr5:90449235 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17780A>G (p.His5927Arg) |
single nucleotide variant |
not provided [RCV002838183] |
Chr5:90863781 [GRCh38] Chr5:90159598 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11757+5G>A |
single nucleotide variant |
not provided [RCV002994479] |
Chr5:90756635 [GRCh38] Chr5:90052452 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18250C>T (p.Gln6084Ter) |
single nucleotide variant |
not provided [RCV002862856] |
Chr5:91072544 [GRCh38] Chr5:90368361 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.461C>G (p.Ser154Ter) |
single nucleotide variant |
not provided [RCV002903105] |
Chr5:90622604 [GRCh38] Chr5:89918421 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.6213C>T (p.Ser2071=) |
single nucleotide variant |
not provided [RCV002994192] |
Chr5:90684134 [GRCh38] Chr5:89979951 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11122-4C>G |
single nucleotide variant |
not provided [RCV002903977] |
Chr5:90753570 [GRCh38] Chr5:90049387 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7182T>C (p.Ile2394=) |
single nucleotide variant |
not provided [RCV002862235] |
Chr5:90693938 [GRCh38] Chr5:89989755 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.765C>T (p.Ile255=) |
single nucleotide variant |
not provided [RCV002730942] |
Chr5:90627303 [GRCh38] Chr5:89923120 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13066G>A (p.Val4356Met) |
single nucleotide variant |
not provided [RCV003013558] |
Chr5:90779081 [GRCh38] Chr5:90074898 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11509G>A (p.Val3837Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002865611] |
Chr5:90755114 [GRCh38] Chr5:90050931 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14522del (p.Phe4841fs) |
deletion |
not provided [RCV002750241] |
Chr5:90802742 [GRCh38] Chr5:90098559 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.5692C>T (p.Pro1898Ser) |
single nucleotide variant |
not provided [RCV002816442] |
Chr5:90683613 [GRCh38] Chr5:89979430 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12728G>A (p.Ser4243Asn) |
single nucleotide variant |
not provided [RCV002881891] |
Chr5:90778488 [GRCh38] Chr5:90074305 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.209T>C (p.Leu70Pro) |
single nucleotide variant |
not provided [RCV002902979] |
Chr5:90617805 [GRCh38] Chr5:89913622 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18732T>C (p.Tyr6244=) |
single nucleotide variant |
not provided [RCV002838663] |
Chr5:91153328 [GRCh38] Chr5:90449145 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8778C>G (p.Tyr2926Ter) |
single nucleotide variant |
not provided [RCV002819089] |
Chr5:90708863 [GRCh38] Chr5:90004680 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.17148_17149del (p.Asn5718fs) |
deletion |
not provided [RCV002819090] |
Chr5:90848765..90848766 [GRCh38] Chr5:90144582..90144583 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.10015A>G (p.Ser3339Gly) |
single nucleotide variant |
not provided [RCV002996322] |
Chr5:90725194 [GRCh38] Chr5:90021011 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11368G>A (p.Glu3790Lys) |
single nucleotide variant |
not provided [RCV002819901] |
Chr5:90753820 [GRCh38] Chr5:90049637 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18803-1G>A |
single nucleotide variant |
not provided [RCV002727111] |
Chr5:91163781 [GRCh38] Chr5:90459598 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13264G>A (p.Val4422Met) |
single nucleotide variant |
not provided [RCV003016746] |
Chr5:90783156 [GRCh38] Chr5:90078973 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18433-17_18433-16insCTTT |
insertion |
not provided [RCV002947762] |
Chr5:91150010..91150011 [GRCh38] Chr5:90445827..90445828 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7135G>C (p.Gly2379Arg) |
single nucleotide variant |
not provided [RCV003095692] |
Chr5:90693891 [GRCh38] Chr5:89989708 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2363T>C (p.Ile788Thr) |
single nucleotide variant |
not provided [RCV003033940] |
Chr5:90642758 [GRCh38] Chr5:89938575 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2204C>G (p.Pro735Arg) |
single nucleotide variant |
not provided [RCV002755871] |
Chr5:90637912 [GRCh38] Chr5:89933729 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16082G>A (p.Ser5361Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002816809] |
Chr5:90815622 [GRCh38] Chr5:90111439 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3366T>C (p.Ser1122=) |
single nucleotide variant |
not provided [RCV002726450] |
Chr5:90651680 [GRCh38] Chr5:89947497 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10422dup (p.Leu3475fs) |
duplication |
not provided [RCV002816099] |
Chr5:90728926..90728927 [GRCh38] Chr5:90024743..90024744 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.14304G>T (p.Ser4768=) |
single nucleotide variant |
not provided [RCV002842955] |
Chr5:90791133 [GRCh38] Chr5:90086950 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3103A>G (p.Met1035Val) |
single nucleotide variant |
not provided [RCV002618185] |
Chr5:90647578 [GRCh38] Chr5:89943395 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12543A>G (p.Pro4181=) |
single nucleotide variant |
not provided [RCV002843290] |
Chr5:90777920 [GRCh38] Chr5:90073737 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1156A>C (p.Asn386His) |
single nucleotide variant |
Inborn genetic diseases [RCV002818193] |
Chr5:90627694 [GRCh38] Chr5:89923511 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10493C>G (p.Ser3498Cys) |
single nucleotide variant |
not provided [RCV003034036] |
Chr5:90729708 [GRCh38] Chr5:90025525 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15293A>C (p.Glu5098Ala) |
single nucleotide variant |
not provided [RCV002510043] |
Chr5:90810553 [GRCh38] Chr5:90106370 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4937A>G (p.Asn1646Ser) |
single nucleotide variant |
not provided [RCV003075850] |
Chr5:90674061 [GRCh38] Chr5:89969878 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13893+10G>A |
single nucleotide variant |
not provided [RCV002905035] |
Chr5:90788320 [GRCh38] Chr5:90084137 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.321G>A (p.Glu107=) |
single nucleotide variant |
not provided [RCV002731302] |
Chr5:90617917 [GRCh38] Chr5:89913734 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2911A>G (p.Met971Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002864105] |
Chr5:90645980 [GRCh38] Chr5:89941797 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11648A>G (p.Asp3883Gly) |
single nucleotide variant |
not provided [RCV003032430] |
Chr5:90756521 [GRCh38] Chr5:90052338 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7996G>C (p.Glu2666Gln) |
single nucleotide variant |
not provided [RCV002816290] |
Chr5:90696987 [GRCh38] Chr5:89992804 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8961A>G (p.Glu2987=) |
single nucleotide variant |
not provided [RCV003016233] |
Chr5:90711241 [GRCh38] Chr5:90007058 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16884T>C (p.Ile5628=) |
single nucleotide variant |
not provided [RCV002755192] |
Chr5:90840850 [GRCh38] Chr5:90136667 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1947T>A (p.Asn649Lys) |
single nucleotide variant |
not provided [RCV002681610] |
Chr5:90635221 [GRCh38] Chr5:89931038 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.10866_10872del (p.Lys3622fs) |
deletion |
not provided [RCV002862414] |
Chr5:90745682..90745688 [GRCh38] Chr5:90041499..90041505 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.17128A>G (p.Ser5710Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002776497]|not provided [RCV002776496] |
Chr5:90848745 [GRCh38] Chr5:90144562 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15643T>G (p.Ser5215Ala) |
single nucleotide variant |
not provided [RCV003014935] |
Chr5:90810903 [GRCh38] Chr5:90106720 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5186A>T (p.His1729Leu) |
single nucleotide variant |
not provided [RCV002755263] |
Chr5:90675318 [GRCh38] Chr5:89971135 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17494C>T (p.Leu5832=) |
single nucleotide variant |
not provided [RCV002996595] |
Chr5:90854101 [GRCh38] Chr5:90149918 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8600G>A (p.Gly2867Glu) |
single nucleotide variant |
not provided [RCV002690135] |
Chr5:90706264 [GRCh38] Chr5:90002081 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.9115G>A (p.Gly3039Arg) |
single nucleotide variant |
not provided [RCV002858526] |
Chr5:90712359 [GRCh38] Chr5:90008176 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2892A>G (p.Pro964=) |
single nucleotide variant |
not provided [RCV002731473] |
Chr5:90644863 [GRCh38] Chr5:89940680 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10191G>T (p.Val3397=) |
single nucleotide variant |
not provided [RCV002866421] |
Chr5:90728698 [GRCh38] Chr5:90024515 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.775A>G (p.Asn259Asp) |
single nucleotide variant |
not provided [RCV002696063] |
Chr5:90627313 [GRCh38] Chr5:89923130 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2669T>C (p.Ile890Thr) |
single nucleotide variant |
not provided [RCV002639896] |
Chr5:90643918 [GRCh38] Chr5:89939735 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5314-14C>G |
single nucleotide variant |
not provided [RCV002740437] |
Chr5:90676066 [GRCh38] Chr5:89971883 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11314dup (p.Ser3772fs) |
duplication |
not provided [RCV002623184] |
Chr5:90753765..90753766 [GRCh38] Chr5:90049582..90049583 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.358-12A>T |
single nucleotide variant |
not provided [RCV002623142] |
Chr5:90619074 [GRCh38] Chr5:89914891 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3892C>T (p.Pro1298Ser) |
single nucleotide variant |
not provided [RCV002572041] |
Chr5:90653466 [GRCh38] Chr5:89949283 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3044A>G (p.Gln1015Arg) |
single nucleotide variant |
not provided [RCV002824888] |
Chr5:90647519 [GRCh38] Chr5:89943336 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6352G>A (p.Gly2118Arg) |
single nucleotide variant |
not provided [RCV002825554] |
Chr5:90685857 [GRCh38] Chr5:89981674 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11969T>C (p.Ile3990Thr) |
single nucleotide variant |
not provided [RCV002663120] |
Chr5:90759437 [GRCh38] Chr5:90055254 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6812A>G (p.Gln2271Arg) |
single nucleotide variant |
not provided [RCV002914090] |
Chr5:90690902 [GRCh38] Chr5:89986719 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9444C>T (p.Phe3148=) |
single nucleotide variant |
not provided [RCV002953816] |
Chr5:90716726 [GRCh38] Chr5:90012543 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13364G>C (p.Ser4455Thr) |
single nucleotide variant |
not provided [RCV002953790] |
Chr5:90783256 [GRCh38] Chr5:90079073 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6061A>G (p.Met2021Val) |
single nucleotide variant |
not provided [RCV003035808] |
Chr5:90683982 [GRCh38] Chr5:89979799 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17455-15T>C |
single nucleotide variant |
not provided [RCV002735456] |
Chr5:90854047 [GRCh38] Chr5:90149864 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16623T>A (p.Ser5541Arg) |
single nucleotide variant |
not provided [RCV002740460] |
Chr5:90840589 [GRCh38] Chr5:90136406 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8227A>C (p.Ile2743Leu) |
single nucleotide variant |
not provided [RCV002696243] |
Chr5:90703736 [GRCh38] Chr5:89999553 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11758-17A>C |
single nucleotide variant |
not provided [RCV002952732] |
Chr5:90756962 [GRCh38] Chr5:90052779 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10426+13A>G |
single nucleotide variant |
not provided [RCV003038591] |
Chr5:90728946 [GRCh38] Chr5:90024763 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6245_6249del (p.Thr2082fs) |
deletion |
not provided [RCV002663006] |
Chr5:90684164..90684168 [GRCh38] Chr5:89979981..89979985 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.13231+4G>A |
single nucleotide variant |
not provided [RCV003020946] |
Chr5:90781582 [GRCh38] Chr5:90077399 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5073G>A (p.Thr1691=) |
single nucleotide variant |
not provided [RCV002663051] |
Chr5:90674197 [GRCh38] Chr5:89970014 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12670T>G (p.Leu4224Val) |
single nucleotide variant |
not provided [RCV002663007] |
Chr5:90778430 [GRCh38] Chr5:90074247 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.35C>T (p.Ala12Val) |
single nucleotide variant |
not provided [RCV003019011] |
Chr5:90614847 [GRCh38] Chr5:89910664 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10162-12C>A |
single nucleotide variant |
not provided [RCV002622697] |
Chr5:90728657 [GRCh38] Chr5:90024474 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9593G>A (p.Gly3198Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002762713] |
Chr5:90720193 [GRCh38] Chr5:90016010 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3289+15C>G |
single nucleotide variant |
not provided [RCV002592983] |
Chr5:90647779 [GRCh38] Chr5:89943596 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18340C>T (p.Leu6114=) |
single nucleotide variant |
not provided [RCV002796425] |
Chr5:91102248 [GRCh38] Chr5:90398065 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2512A>C (p.Ile838Leu) |
single nucleotide variant |
not provided [RCV002796426] |
Chr5:90643000 [GRCh38] Chr5:89938817 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12667-9T>C |
single nucleotide variant |
not provided [RCV002953721] |
Chr5:90778418 [GRCh38] Chr5:90074235 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13460T>A (p.Leu4487Gln) |
single nucleotide variant |
not provided [RCV002786010] |
Chr5:90783864 [GRCh38] Chr5:90079681 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10549+15A>G |
single nucleotide variant |
not provided [RCV002622263] |
Chr5:90729779 [GRCh38] Chr5:90025596 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4982_4998delinsCCG (p.Phe1661fs) |
indel |
not provided [RCV002927659] |
Chr5:90674106..90674122 [GRCh38] Chr5:89969923..89969939 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.6694_6695delinsCG (p.Tyr2232Arg) |
indel |
not provided [RCV002825289] |
Chr5:90690064..90690065 [GRCh38] Chr5:89985881..89985882 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8904-20del |
deletion |
not provided [RCV002885302] |
Chr5:90711164 [GRCh38] Chr5:90006981 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.615C>T (p.Ile205=) |
single nucleotide variant |
not provided [RCV002571911] |
Chr5:90625186 [GRCh38] Chr5:89921003 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5491A>G (p.Met1831Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002950591] |
Chr5:90679596 [GRCh38] Chr5:89975413 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4692A>G (p.Thr1564=) |
single nucleotide variant |
not provided [RCV003038688] |
Chr5:90658218 [GRCh38] Chr5:89954035 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10169G>T (p.Arg3390Met) |
single nucleotide variant |
not provided [RCV002870782] |
Chr5:90728676 [GRCh38] Chr5:90024493 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1197G>C (p.Leu399Phe) |
single nucleotide variant |
not provided [RCV002695989] |
Chr5:90627735 [GRCh38] Chr5:89923552 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2010T>A (p.Ala670=) |
single nucleotide variant |
not provided [RCV003039281] |
Chr5:90635284 [GRCh38] Chr5:89931101 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9499T>G (p.Phe3167Val) |
single nucleotide variant |
not provided [RCV002795364] |
Chr5:90720099 [GRCh38] Chr5:90015916 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2988G>T (p.Arg996Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002888906] |
Chr5:90646057 [GRCh38] Chr5:89941874 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10162-14A>C |
single nucleotide variant |
not provided [RCV003039244] |
Chr5:90728655 [GRCh38] Chr5:90024472 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13231+15C>G |
single nucleotide variant |
not provided [RCV002736531] |
Chr5:90781593 [GRCh38] Chr5:90077410 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16382A>G (p.Glu5461Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002844287] |
Chr5:90828957 [GRCh38] Chr5:90124774 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8242G>C (p.Glu2748Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002844671] |
Chr5:90703751 [GRCh38] Chr5:89999568 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9281T>C (p.Val3094Ala) |
single nucleotide variant |
not provided [RCV002796817] |
Chr5:90716563 [GRCh38] Chr5:90012380 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4150G>A (p.Gly1384Arg) |
single nucleotide variant |
not provided [RCV002659138] |
Chr5:90653724 [GRCh38] Chr5:89949541 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2637G>A (p.Thr879=) |
single nucleotide variant |
not provided [RCV002797312] |
Chr5:90643886 [GRCh38] Chr5:89939703 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15210T>A (p.Thr5070=) |
single nucleotide variant |
not provided [RCV002824051] |
Chr5:90810470 [GRCh38] Chr5:90106287 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14218G>A (p.Gly4740Arg) |
single nucleotide variant |
not provided [RCV003054078] |
Chr5:90791047 [GRCh38] Chr5:90086864 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16241A>C (p.Lys5414Thr) |
single nucleotide variant |
not provided [RCV002638671] |
Chr5:90823469 [GRCh38] Chr5:90119286 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13660T>G (p.Trp4554Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002737780] |
Chr5:90788077 [GRCh38] Chr5:90083894 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1398A>C (p.Thr466=) |
single nucleotide variant |
not provided [RCV002998759] |
Chr5:90628721 [GRCh38] Chr5:89924538 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15586C>T (p.His5196Tyr) |
single nucleotide variant |
not provided [RCV003038052] |
Chr5:90810846 [GRCh38] Chr5:90106663 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13894-11A>G |
single nucleotide variant |
not provided [RCV003036542] |
Chr5:90789691 [GRCh38] Chr5:90085508 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15751T>A (p.Phe5251Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002692279] |
Chr5:90811011 [GRCh38] Chr5:90106828 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15699G>A (p.Met5233Ile) |
single nucleotide variant |
not provided [RCV002846729] |
Chr5:90810959 [GRCh38] Chr5:90106776 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14416G>A (p.Asp4806Asn) |
single nucleotide variant |
not provided [RCV003037531] |
Chr5:90791245 [GRCh38] Chr5:90087062 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13159C>T (p.Arg4387Cys) |
single nucleotide variant |
not provided [RCV002621602] |
Chr5:90781506 [GRCh38] Chr5:90077323 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.11199G>T (p.Glu3733Asp) |
single nucleotide variant |
not provided [RCV002638962] |
Chr5:90753651 [GRCh38] Chr5:90049468 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8229_8230delinsAT (p.Gly2744Trp) |
indel |
not provided [RCV002694758] |
Chr5:90703738..90703739 [GRCh38] Chr5:89999555..89999556 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10075G>T (p.Glu3359Ter) |
single nucleotide variant |
Usher syndrome [RCV002510398] |
Chr5:90725570 [GRCh38] Chr5:90021387 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.7155GTT[2] (p.Leu2387del) |
microsatellite |
not provided [RCV002591256] |
Chr5:90693910..90693912 [GRCh38] Chr5:89989727..89989729 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17455-14T>A |
single nucleotide variant |
not provided [RCV002734958] |
Chr5:90854048 [GRCh38] Chr5:90149865 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5443+8T>A |
single nucleotide variant |
not provided [RCV002659089] |
Chr5:90676217 [GRCh38] Chr5:89972034 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1700C>G (p.Pro567Arg) |
single nucleotide variant |
not provided [RCV002796728] |
Chr5:90629400 [GRCh38] Chr5:89925217 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17275A>G (p.Asn5759Asp) |
single nucleotide variant |
not provided [RCV002756774] |
Chr5:90853354 [GRCh38] Chr5:90149171 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6720T>C (p.Thr2240=) |
single nucleotide variant |
not provided [RCV002923816] |
Chr5:90690810 [GRCh38] Chr5:89986627 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3291T>C (p.Gly1097=) |
single nucleotide variant |
not provided [RCV002690938] |
Chr5:90651605 [GRCh38] Chr5:89947422 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16437C>A (p.Asn5479Lys) |
single nucleotide variant |
not provided [RCV003035683] |
Chr5:90829012 [GRCh38] Chr5:90124829 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8534A>G (p.Gln2845Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002925611] |
Chr5:90705547 [GRCh38] Chr5:90001364 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10564A>G (p.Ile3522Val) |
single nucleotide variant |
not provided [RCV003035416] |
Chr5:90745060 [GRCh38] Chr5:90040877 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13568G>C (p.Ser4523Thr) |
single nucleotide variant |
not provided [RCV003079062] |
Chr5:90783972 [GRCh38] Chr5:90079789 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5895C>T (p.Ala1965=) |
single nucleotide variant |
not provided [RCV003020046] |
Chr5:90683816 [GRCh38] Chr5:89979633 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5489A>C (p.Asp1830Ala) |
single nucleotide variant |
not provided [RCV002510032] |
Chr5:90679594 [GRCh38] Chr5:89975411 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6813G>T (p.Gln2271His) |
single nucleotide variant |
not provided [RCV003035508] |
Chr5:90690903 [GRCh38] Chr5:89986720 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13650T>G (p.Ile4550Met) |
single nucleotide variant |
not provided [RCV002735437] |
Chr5:90784054 [GRCh38] Chr5:90079871 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10322G>A (p.Gly3441Glu) |
single nucleotide variant |
not provided [RCV002658892] |
Chr5:90728829 [GRCh38] Chr5:90024646 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14234T>C (p.Leu4745Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002692008] |
Chr5:90791063 [GRCh38] Chr5:90086880 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14191G>C (p.Val4731Leu) |
single nucleotide variant |
not provided [RCV003054836] |
Chr5:90791020 [GRCh38] Chr5:90086837 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14242A>T (p.Ser4748Cys) |
single nucleotide variant |
not provided [RCV002886210] |
Chr5:90791071 [GRCh38] Chr5:90086888 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3803A>G (p.Asn1268Ser) |
single nucleotide variant |
not provided [RCV003019688] |
Chr5:90653377 [GRCh38] Chr5:89949194 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5529T>A (p.Ser1843Arg) |
single nucleotide variant |
not provided [RCV002705351] |
Chr5:90681319 [GRCh38] Chr5:89977136 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8540_8543del (p.Phe2847fs) |
deletion |
not provided [RCV003019925] |
Chr5:90705552..90705555 [GRCh38] Chr5:90001369..90001372 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.13698G>A (p.Leu4566=) |
single nucleotide variant |
not provided [RCV002735122] |
Chr5:90788115 [GRCh38] Chr5:90083932 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13803A>C (p.Glu4601Asp) |
single nucleotide variant |
not provided [RCV002690751] |
Chr5:90788220 [GRCh38] Chr5:90084037 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.465C>T (p.Ile155=) |
single nucleotide variant |
not provided [RCV002590944] |
Chr5:90622608 [GRCh38] Chr5:89918425 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7833C>T (p.His2611=) |
single nucleotide variant |
not provided [RCV002846746] |
Chr5:90694589 [GRCh38] Chr5:89990406 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3626A>G (p.Asn1209Ser) |
single nucleotide variant |
not provided [RCV002706016] |
Chr5:90652555 [GRCh38] Chr5:89948372 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15266T>G (p.Phe5089Cys) |
single nucleotide variant |
not provided [RCV002912973] |
Chr5:90810526 [GRCh38] Chr5:90106343 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12170C>T (p.Thr4057Ile) |
single nucleotide variant |
not provided [RCV002639711] |
Chr5:90763354 [GRCh38] Chr5:90059171 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16579_16580delinsAC (p.Gly5527Thr) |
indel |
not provided [RCV003035481] |
Chr5:90829154..90829155 [GRCh38] Chr5:90124971..90124972 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10093T>C (p.Tyr3365His) |
single nucleotide variant |
not provided [RCV002796844] |
Chr5:90725588 [GRCh38] Chr5:90021405 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7377G>A (p.Glu2459=) |
single nucleotide variant |
not provided [RCV002886497] |
Chr5:90694133 [GRCh38] Chr5:89989950 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1238+13T>A |
single nucleotide variant |
not provided [RCV003019944] |
Chr5:90627789 [GRCh38] Chr5:89923606 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.474T>A (p.Ser158Arg) |
single nucleotide variant |
not provided [RCV003038167] |
Chr5:90622617 [GRCh38] Chr5:89918434 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12592G>C (p.Val4198Leu) |
single nucleotide variant |
not provided [RCV003080374] |
Chr5:90777969 [GRCh38] Chr5:90073786 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2162G>T (p.Ser721Ile) |
single nucleotide variant |
not provided [RCV002825086] |
Chr5:90637870 [GRCh38] Chr5:89933687 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15338_15341delinsGGAG (p.Leu5113_Asn5114delinsArgSer) |
indel |
not provided [RCV003037008] |
Chr5:90810598..90810601 [GRCh38] Chr5:90106415..90106418 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4594G>T (p.Asp1532Tyr) |
single nucleotide variant |
not provided [RCV002591200] |
Chr5:90658120 [GRCh38] Chr5:89953937 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16402C>G (p.Leu5468Val) |
single nucleotide variant |
not provided [RCV003100360] |
Chr5:90828977 [GRCh38] Chr5:90124794 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1717G>A (p.Gly573Ser) |
single nucleotide variant |
not provided [RCV002638959] |
Chr5:90629417 [GRCh38] Chr5:89925234 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18152+12C>T |
single nucleotide variant |
not provided [RCV002639563] |
Chr5:90985534 [GRCh38] Chr5:90281351 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12257C>G (p.Pro4086Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002706654]|not provided [RCV002706653] |
Chr5:90763441 [GRCh38] Chr5:90059258 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15369A>C (p.Thr5123=) |
single nucleotide variant |
not provided [RCV002847025] |
Chr5:90810629 [GRCh38] Chr5:90106446 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4814A>G (p.Tyr1605Cys) |
single nucleotide variant |
not provided [RCV003020185] |
Chr5:90672607 [GRCh38] Chr5:89968424 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18182T>C (p.Leu6061Ser) |
single nucleotide variant |
not provided [RCV002706490] |
Chr5:91072476 [GRCh38] Chr5:90368293 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1714del (p.Glu572fs) |
deletion |
not provided [RCV003019037] |
Chr5:90629414 [GRCh38] Chr5:89925231 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16832T>C (p.Val5611Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002911858] |
Chr5:90840798 [GRCh38] Chr5:90136615 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5582A>G (p.His1861Arg) |
single nucleotide variant |
not provided [RCV002640134] |
Chr5:90681372 [GRCh38] Chr5:89977189 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.2318G>A (p.Gly773Glu) |
single nucleotide variant |
not provided [RCV002976698] |
Chr5:90642713 [GRCh38] Chr5:89938530 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7034A>T (p.Asn2345Ile) |
single nucleotide variant |
not provided [RCV002823736] |
Chr5:90692687 [GRCh38] Chr5:89988504 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18178G>A (p.Ala6060Thr) |
single nucleotide variant |
not provided [RCV002590836] |
Chr5:91072472 [GRCh38] Chr5:90368289 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11581-7C>T |
single nucleotide variant |
not provided [RCV002976111] |
Chr5:90756447 [GRCh38] Chr5:90052264 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6868G>A (p.Gly2290Ser) |
single nucleotide variant |
not provided [RCV002736235] |
Chr5:90690958 [GRCh38] Chr5:89986775 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3364T>C (p.Ser1122Pro) |
single nucleotide variant |
not provided [RCV002979629] |
Chr5:90651678 [GRCh38] Chr5:89947495 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1227T>C (p.Asp409=) |
single nucleotide variant |
not provided [RCV002659569] |
Chr5:90627765 [GRCh38] Chr5:89923582 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2068T>A (p.Trp690Arg) |
single nucleotide variant |
not provided [RCV002621267] |
Chr5:90637776 [GRCh38] Chr5:89933593 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1638G>C (p.Gly546=) |
single nucleotide variant |
not provided [RCV002706165] |
Chr5:90629338 [GRCh38] Chr5:89925155 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2980A>G (p.Thr994Ala) |
single nucleotide variant |
not provided [RCV002662565] |
Chr5:90646049 [GRCh38] Chr5:89941866 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.7953C>A (p.Thr2651=) |
single nucleotide variant |
not provided [RCV002639101] |
Chr5:90696944 [GRCh38] Chr5:89992761 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.3972A>T (p.Gly1324=) |
single nucleotide variant |
not provided [RCV002690691] |
Chr5:90653546 [GRCh38] Chr5:89949363 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6322C>T (p.Leu2108=) |
single nucleotide variant |
not provided [RCV002735155] |
Chr5:90685827 [GRCh38] Chr5:89981644 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8566G>A (p.Gly2856Arg) |
single nucleotide variant |
not provided [RCV003038315] |
Chr5:90705579 [GRCh38] Chr5:90001396 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1730T>C (p.Ile577Thr) |
single nucleotide variant |
not provided [RCV003038504] |
Chr5:90629430 [GRCh38] Chr5:89925247 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7133+8A>C |
single nucleotide variant |
not provided [RCV002848012] |
Chr5:90692794 [GRCh38] Chr5:89988611 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3009C>T (p.Pro1003=) |
single nucleotide variant |
not provided [RCV002848190] |
Chr5:90646078 [GRCh38] Chr5:89941895 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3933C>T (p.Thr1311=) |
single nucleotide variant |
not provided [RCV002659131] |
Chr5:90653507 [GRCh38] Chr5:89949324 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14371G>T (p.Ala4791Ser) |
single nucleotide variant |
not provided [RCV002886164] |
Chr5:90791200 [GRCh38] Chr5:90087017 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9550G>A (p.Val3184Ile) |
single nucleotide variant |
not provided [RCV002639343] |
Chr5:90720150 [GRCh38] Chr5:90015967 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5664+17C>T |
single nucleotide variant |
not provided [RCV002913723] |
Chr5:90681471 [GRCh38] Chr5:89977288 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16262A>T (p.Lys5421Met) |
single nucleotide variant |
not provided [RCV003002781] |
Chr5:90823490 [GRCh38] Chr5:90119307 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.942A>G (p.Ala314=) |
single nucleotide variant |
not provided [RCV002662682] |
Chr5:90627480 [GRCh38] Chr5:89923297 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9598T>G (p.Phe3200Val) |
single nucleotide variant |
not provided [RCV003018109] |
Chr5:90720198 [GRCh38] Chr5:90016015 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2951G>A (p.Gly984Glu) |
single nucleotide variant |
not provided [RCV002690913] |
Chr5:90646020 [GRCh38] Chr5:89941837 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8692G>A (p.Gly2898Arg) |
single nucleotide variant |
not provided [RCV002846228] |
Chr5:90706356 [GRCh38] Chr5:90002173 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14540A>T (p.Asn4847Ile) |
single nucleotide variant |
not provided [RCV002926626] |
Chr5:90802761 [GRCh38] Chr5:90098578 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13958C>T (p.Thr4653Ile) |
single nucleotide variant |
not provided [RCV002912989] |
Chr5:90789766 [GRCh38] Chr5:90085583 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14043+16del |
deletion |
not provided [RCV002638725] |
Chr5:90789865 [GRCh38] Chr5:90085682 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13181A>G (p.Asp4394Gly) |
single nucleotide variant |
not provided [RCV002639904] |
Chr5:90781528 [GRCh38] Chr5:90077345 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.11988A>G (p.Glu3996=) |
single nucleotide variant |
not provided [RCV002820610] |
Chr5:90759456 [GRCh38] Chr5:90055273 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14588A>G (p.Tyr4863Cys) |
single nucleotide variant |
not provided [RCV002659442] |
Chr5:90802809 [GRCh38] Chr5:90098626 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7577T>C (p.Ile2526Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002869380] |
Chr5:90694333 [GRCh38] Chr5:89990150 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16399G>A (p.Glu5467Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002910410] |
Chr5:90828974 [GRCh38] Chr5:90124791 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.263_264del (p.Pro88fs) |
deletion |
not provided [RCV002847910] |
Chr5:90617859..90617860 [GRCh38] Chr5:89913676..89913677 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.9076A>C (p.Asn3026His) |
single nucleotide variant |
Inborn genetic diseases [RCV002888646] |
Chr5:90712320 [GRCh38] Chr5:90008137 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17899GAG[1] (p.Glu5968del) |
microsatellite |
not provided [RCV003039069] |
Chr5:90965457..90965459 [GRCh38] Chr5:90261274..90261276 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14626del (p.Val4876fs) |
deletion |
not provided [RCV002885077] |
Chr5:90802847 [GRCh38] Chr5:90098664 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.3390G>T (p.Val1130=) |
single nucleotide variant |
not provided [RCV002658926] |
Chr5:90651704 [GRCh38] Chr5:89947521 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18433-17_18433-16insCTTTTCTT |
insertion |
not provided [RCV002705404] |
Chr5:91150011..91150012 [GRCh38] Chr5:90445828..90445829 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8349A>G (p.Glu2783=) |
single nucleotide variant |
not provided [RCV002622233] |
Chr5:90704451 [GRCh38] Chr5:90000268 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11941-17C>T |
single nucleotide variant |
not provided [RCV002736097] |
Chr5:90759392 [GRCh38] Chr5:90055209 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12780G>T (p.Val4260=) |
single nucleotide variant |
not provided [RCV002847038] |
Chr5:90778540 [GRCh38] Chr5:90074357 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5600G>T (p.Ser1867Ile) |
single nucleotide variant |
not provided [RCV002824766] |
Chr5:90681390 [GRCh38] Chr5:89977207 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6718A>G (p.Thr2240Ala) |
single nucleotide variant |
not provided [RCV002695165] |
Chr5:90690808 [GRCh38] Chr5:89986625 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1040T>C (p.Val347Ala) |
single nucleotide variant |
not provided [RCV002927097] |
Chr5:90627578 [GRCh38] Chr5:89923395 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14120A>T (p.Asp4707Val) |
single nucleotide variant |
not provided [RCV002639990] |
Chr5:90790949 [GRCh38] Chr5:90086766 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13340G>T (p.Gly4447Val) |
single nucleotide variant |
not provided [RCV003020034] |
Chr5:90783232 [GRCh38] Chr5:90079049 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11378-11_11378-8del |
deletion |
not provided [RCV003053933] |
Chr5:90754971..90754974 [GRCh38] Chr5:90050788..90050791 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9900A>G (p.Pro3300=) |
single nucleotide variant |
not provided [RCV003019823] |
Chr5:90724983 [GRCh38] Chr5:90020800 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2554-14C>T |
single nucleotide variant |
not provided [RCV003053510] |
Chr5:90643789 [GRCh38] Chr5:89939606 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12428G>T (p.Gly4143Val) |
single nucleotide variant |
not provided [RCV002690643] |
Chr5:90776477 [GRCh38] Chr5:90072294 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14169dup (p.Pro4724fs) |
duplication |
not provided [RCV002866965] |
Chr5:90790997..90790998 [GRCh38] Chr5:90086814..90086815 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1289C>T (p.Ser430Phe) |
single nucleotide variant |
not provided [RCV002791316] |
Chr5:90628612 [GRCh38] Chr5:89924429 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1773A>G (p.Gln591=) |
single nucleotide variant |
not provided [RCV003042295] |
Chr5:90629473 [GRCh38] Chr5:89925290 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4378+8T>A |
single nucleotide variant |
not provided [RCV002894946] |
Chr5:90653960 [GRCh38] Chr5:89949777 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8785del (p.Thr2930fs) |
deletion |
not provided [RCV002645749] |
Chr5:90708870 [GRCh38] Chr5:90004687 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.3848T>C (p.Leu1283Pro) |
single nucleotide variant |
not provided [RCV002700679] |
Chr5:90653422 [GRCh38] Chr5:89949239 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13232-4A>T |
single nucleotide variant |
not provided [RCV002890147] |
Chr5:90783120 [GRCh38] Chr5:90078937 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18274T>G (p.Tyr6092Asp) |
single nucleotide variant |
not provided [RCV002572908] |
Chr5:91072568 [GRCh38] Chr5:90368385 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18527G>A (p.Gly6176Glu) |
single nucleotide variant |
not provided [RCV002575162] |
Chr5:91150124 [GRCh38] Chr5:90445941 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3416+7A>G |
single nucleotide variant |
not provided [RCV002627262] |
Chr5:90651737 [GRCh38] Chr5:89947554 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16368+1G>T |
single nucleotide variant |
not provided [RCV002791397] |
Chr5:90823597 [GRCh38] Chr5:90119414 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1224A>T (p.Glu408Asp) |
single nucleotide variant |
not provided [RCV002667977] |
Chr5:90627762 [GRCh38] Chr5:89923579 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.501G>C (p.Met167Ile) |
single nucleotide variant |
not provided [RCV003043499] |
Chr5:90622644 [GRCh38] Chr5:89918461 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16360C>T (p.Pro5454Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002919558] |
Chr5:90823588 [GRCh38] Chr5:90119405 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2872A>G (p.Ile958Val) |
single nucleotide variant |
not provided [RCV002958376] |
Chr5:90644843 [GRCh38] Chr5:89940660 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6885C>T (p.Ala2295=) |
single nucleotide variant |
not provided [RCV002700659] |
Chr5:90690975 [GRCh38] Chr5:89986792 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11580+11G>A |
single nucleotide variant |
not provided [RCV003039925] |
Chr5:90755196 [GRCh38] Chr5:90051013 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8859T>C (p.Asp2953=) |
single nucleotide variant |
not provided [RCV002594676] |
Chr5:90711015 [GRCh38] Chr5:90006832 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7883del (p.Gly2628fs) |
deletion |
not provided [RCV003007631] |
Chr5:90694638 [GRCh38] Chr5:89990455 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.18717G>A (p.Pro6239=) |
single nucleotide variant |
not provided [RCV002790910] |
Chr5:91153313 [GRCh38] Chr5:90449130 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9586C>G (p.Pro3196Ala) |
single nucleotide variant |
not provided [RCV002895179] |
Chr5:90720186 [GRCh38] Chr5:90016003 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3022+20T>C |
single nucleotide variant |
not provided [RCV002875667] |
Chr5:90646111 [GRCh38] Chr5:89941928 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17751C>T (p.Ile5917=) |
single nucleotide variant |
not provided [RCV002596822] |
Chr5:90855897 [GRCh38] Chr5:90151714 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13732G>A (p.Gly4578Arg) |
single nucleotide variant |
not provided [RCV003059283] |
Chr5:90788149 [GRCh38] Chr5:90083966 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13524T>C (p.Ala4508=) |
single nucleotide variant |
not provided [RCV002852980] |
Chr5:90783928 [GRCh38] Chr5:90079745 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3635-3C>T |
single nucleotide variant |
not provided [RCV003042485] |
Chr5:90653206 [GRCh38] Chr5:89949023 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17345A>T (p.Asp5782Val) |
single nucleotide variant |
not provided [RCV002928559] |
Chr5:90853424 [GRCh38] Chr5:90149241 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11565A>G (p.Glu3855=) |
single nucleotide variant |
not provided [RCV002829594] |
Chr5:90755170 [GRCh38] Chr5:90050987 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4086G>A (p.Met1362Ile) |
single nucleotide variant |
not provided [RCV003007765] |
Chr5:90653660 [GRCh38] Chr5:89949477 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10974+6G>T |
single nucleotide variant |
not provided [RCV002872021] |
Chr5:90745801 [GRCh38] Chr5:90041618 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15244C>T (p.Gln5082Ter) |
single nucleotide variant |
not provided [RCV002791395] |
Chr5:90810504 [GRCh38] Chr5:90106321 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.17063G>A (p.Arg5688Gln) |
single nucleotide variant |
not provided [RCV002645710] |
Chr5:90848680 [GRCh38] Chr5:90144497 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13768A>C (p.Arg4590=) |
single nucleotide variant |
not provided [RCV002958658] |
Chr5:90788185 [GRCh38] Chr5:90084002 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7645A>G (p.Asn2549Asp) |
single nucleotide variant |
not provided [RCV003025151] |
Chr5:90694401 [GRCh38] Chr5:89990218 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5082C>G (p.Ile1694Met) |
single nucleotide variant |
not provided [RCV002626907] |
Chr5:90674206 [GRCh38] Chr5:89970023 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17880C>T (p.Tyr5960=) |
single nucleotide variant |
not provided [RCV002574345] |
Chr5:90965438 [GRCh38] Chr5:90261255 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5664+1G>A |
single nucleotide variant |
not provided [RCV002894085] |
Chr5:90681455 [GRCh38] Chr5:89977272 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.4173A>G (p.Glu1391=) |
single nucleotide variant |
not provided [RCV002894652] |
Chr5:90653747 [GRCh38] Chr5:89949564 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6490+1G>A |
single nucleotide variant |
not provided [RCV003059817] |
Chr5:90685996 [GRCh38] Chr5:89981813 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.15830G>C (p.Arg5277Pro) |
single nucleotide variant |
not provided [RCV003042087] |
Chr5:90811090 [GRCh38] Chr5:90106907 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7479T>G (p.Phe2493Leu) |
single nucleotide variant |
not provided [RCV002668085] |
Chr5:90694235 [GRCh38] Chr5:89990052 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2849del (p.Gly950fs) |
deletion |
not provided [RCV003003345] |
Chr5:90644819 [GRCh38] Chr5:89940636 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16622G>A (p.Ser5541Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002597134]|not provided [RCV002597135] |
Chr5:90840588 [GRCh38] Chr5:90136405 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.15683A>T (p.Tyr5228Phe) |
single nucleotide variant |
not provided [RCV002596536] |
Chr5:90810943 [GRCh38] Chr5:90106760 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17594+11A>G |
single nucleotide variant |
not provided [RCV002710205] |
Chr5:90854212 [GRCh38] Chr5:90150029 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18857del (p.Gly6286fs) |
deletion |
not provided [RCV002852184] |
Chr5:91163831 [GRCh38] Chr5:90459648 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15505A>G (p.Ile5169Val) |
single nucleotide variant |
not provided [RCV002597128] |
Chr5:90810765 [GRCh38] Chr5:90106582 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15292G>C (p.Glu5098Gln) |
single nucleotide variant |
not provided [RCV003026092] |
Chr5:90810552 [GRCh38] Chr5:90106369 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9749-19C>A |
single nucleotide variant |
not provided [RCV002576165] |
Chr5:90724813 [GRCh38] Chr5:90020630 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11552A>T (p.Glu3851Val) |
single nucleotide variant |
not provided [RCV003040318] |
Chr5:90755157 [GRCh38] Chr5:90050974 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16197-20G>T |
single nucleotide variant |
not provided [RCV002829888] |
Chr5:90823405 [GRCh38] Chr5:90119222 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3589C>T (p.Pro1197Ser) |
single nucleotide variant |
not provided [RCV002851223] |
Chr5:90652518 [GRCh38] Chr5:89948335 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11915G>A (p.Gly3972Glu) |
single nucleotide variant |
not provided [RCV003040892] |
Chr5:90757136 [GRCh38] Chr5:90052953 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1633G>A (p.Gly545Arg) |
single nucleotide variant |
not provided [RCV003057677] |
Chr5:90629333 [GRCh38] Chr5:89925150 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16986A>G (p.Glu5662=) |
single nucleotide variant |
not provided [RCV002594500] |
Chr5:90840952 [GRCh38] Chr5:90136769 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3290-13A>G |
single nucleotide variant |
not provided [RCV003057099] |
Chr5:90651591 [GRCh38] Chr5:89947408 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3309A>G (p.Gln1103=) |
single nucleotide variant |
not provided [RCV003006176] |
Chr5:90651623 [GRCh38] Chr5:89947440 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12356C>G (p.Thr4119Ser) |
single nucleotide variant |
not provided [RCV003022262] |
Chr5:90774256 [GRCh38] Chr5:90070073 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2270C>A (p.Ser757Tyr) |
single nucleotide variant |
not provided [RCV002623915] |
Chr5:90642665 [GRCh38] Chr5:89938482 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.208-18A>G |
single nucleotide variant |
not provided [RCV002710375] |
Chr5:90617786 [GRCh38] Chr5:89913603 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5196G>A (p.Val1732=) |
single nucleotide variant |
not provided [RCV003057114] |
Chr5:90675328 [GRCh38] Chr5:89971145 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9737C>A (p.Ala3246Asp) |
single nucleotide variant |
not provided [RCV002851870] |
Chr5:90721048 [GRCh38] Chr5:90016865 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8665A>G (p.Ile2889Val) |
single nucleotide variant |
not provided [RCV002663328] |
Chr5:90706329 [GRCh38] Chr5:90002146 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14234_14235delinsCC (p.Leu4745Pro) |
indel |
not provided [RCV002699986] |
Chr5:90791063..90791064 [GRCh38] Chr5:90086880..90086881 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4467A>G (p.Lys1489=) |
single nucleotide variant |
not provided [RCV002917654] |
Chr5:90657993 [GRCh38] Chr5:89953810 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1663T>C (p.Tyr555His) |
single nucleotide variant |
not provided [RCV003082726] |
Chr5:90629363 [GRCh38] Chr5:89925180 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4189T>A (p.Ser1397Thr) |
single nucleotide variant |
not provided [RCV002741409] |
Chr5:90653763 [GRCh38] Chr5:89949580 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5408C>T (p.Ser1803Phe) |
single nucleotide variant |
not provided [RCV002890842] |
Chr5:90676174 [GRCh38] Chr5:89971991 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13145A>G (p.Asn4382Ser) |
single nucleotide variant |
not provided [RCV003022519] |
Chr5:90781492 [GRCh38] Chr5:90077309 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4929+7C>A |
single nucleotide variant |
not provided [RCV003005626] |
Chr5:90672729 [GRCh38] Chr5:89968546 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13758_13761del (p.Gly4587fs) |
deletion |
not provided [RCV002852059] |
Chr5:90788173..90788176 [GRCh38] Chr5:90083990..90083993 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1970A>G (p.Asn657Ser) |
single nucleotide variant |
not provided [RCV002700445] |
Chr5:90635244 [GRCh38] Chr5:89931061 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12645T>A (p.Ser4215=) |
single nucleotide variant |
not provided [RCV002663667] |
Chr5:90778022 [GRCh38] Chr5:90073839 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.87A>T (p.Gly29=) |
single nucleotide variant |
not provided [RCV002982652] |
Chr5:90614899 [GRCh38] Chr5:89910716 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15510G>C (p.Leu5170=) |
single nucleotide variant |
not provided [RCV002829192] |
Chr5:90810770 [GRCh38] Chr5:90106587 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15988G>C (p.Val5330Leu) |
single nucleotide variant |
not provided [RCV002890422] |
Chr5:90811248 [GRCh38] Chr5:90107065 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4956T>C (p.Asp1652=) |
single nucleotide variant |
not provided [RCV002851631] |
Chr5:90674080 [GRCh38] Chr5:89969897 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17328G>C (p.Arg5776Ser) |
single nucleotide variant |
not provided [RCV003058085] |
Chr5:90853407 [GRCh38] Chr5:90149224 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2956A>G (p.Lys986Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002607621]|not provided [RCV002623776] |
Chr5:90646025 [GRCh38] Chr5:89941842 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14935G>A (p.Gly4979Arg) |
single nucleotide variant |
not provided [RCV003057796] |
Chr5:90807700 [GRCh38] Chr5:90103517 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8387-9C>T |
single nucleotide variant |
not provided [RCV003003342] |
Chr5:90705391 [GRCh38] Chr5:90001208 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2298T>G (p.Ile766Met) |
single nucleotide variant |
not provided [RCV002801345] |
Chr5:90642693 [GRCh38] Chr5:89938510 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10357A>T (p.Thr3453Ser) |
single nucleotide variant |
not provided [RCV002594216] |
Chr5:90728864 [GRCh38] Chr5:90024681 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7763A>C (p.Asn2588Thr) |
single nucleotide variant |
not provided [RCV002765742] |
Chr5:90694519 [GRCh38] Chr5:89990336 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.4746dup (p.Pro1583fs) |
duplication |
not provided [RCV003041938] |
Chr5:90658271..90658272 [GRCh38] Chr5:89954088..89954089 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.2213A>G (p.Asn738Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002787053] |
Chr5:90637921 [GRCh38] Chr5:89933738 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8969G>T (p.Gly2990Val) |
single nucleotide variant |
not provided [RCV003022261] |
Chr5:90711249 [GRCh38] Chr5:90007066 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8824+3A>G |
single nucleotide variant |
not provided [RCV003023371] |
Chr5:90708912 [GRCh38] Chr5:90004729 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16196+9A>G |
single nucleotide variant |
not provided [RCV002851828] |
Chr5:90815745 [GRCh38] Chr5:90111562 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3635-17A>C |
single nucleotide variant |
not provided [RCV002710929] |
Chr5:90653192 [GRCh38] Chr5:89949009 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2056G>T (p.Ala686Ser) |
single nucleotide variant |
not provided [RCV003006301] |
Chr5:90637764 [GRCh38] Chr5:89933581 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9917T>C (p.Ile3306Thr) |
single nucleotide variant |
not provided [RCV002850969] |
Chr5:90725096 [GRCh38] Chr5:90020913 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3364dup (p.Ser1122fs) |
duplication |
Usher syndrome [RCV003389513]|not provided [RCV003040003] |
Chr5:90651672..90651673 [GRCh38] Chr5:89947489..89947490 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.3635-16A>C |
single nucleotide variant |
not provided [RCV002573773] |
Chr5:90653193 [GRCh38] Chr5:89949010 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12081T>C (p.Asn4027=) |
single nucleotide variant |
not provided [RCV002642688] |
Chr5:90759549 [GRCh38] Chr5:90055366 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3319G>A (p.Ala1107Thr) |
single nucleotide variant |
not provided [RCV002625686] |
Chr5:90651633 [GRCh38] Chr5:89947450 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5210G>A (p.Gly1737Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002804317] |
Chr5:90675342 [GRCh38] Chr5:89971159 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3289+4A>C |
single nucleotide variant |
not provided [RCV002644463] |
Chr5:90647768 [GRCh38] Chr5:89943585 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9660C>T (p.Thr3220=) |
single nucleotide variant |
not provided [RCV002643148] |
Chr5:90720971 [GRCh38] Chr5:90016788 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7567A>G (p.Thr2523Ala) |
single nucleotide variant |
not provided [RCV003006051] |
Chr5:90694323 [GRCh38] Chr5:89990140 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1603C>T (p.Arg535Ter) |
single nucleotide variant |
not provided [RCV002701346] |
Chr5:90629303 [GRCh38] Chr5:89925120 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.797T>C (p.Leu266Pro) |
single nucleotide variant |
not provided [RCV003055928] |
Chr5:90627335 [GRCh38] Chr5:89923152 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7902T>C (p.Gly2634=) |
single nucleotide variant |
not provided [RCV003057435] |
Chr5:90694658 [GRCh38] Chr5:89990475 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18918G>A (p.Leu6306=) |
single nucleotide variant |
not provided [RCV002931949] |
Chr5:91163897 [GRCh38] Chr5:90459714 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7365C>G (p.Phe2455Leu) |
single nucleotide variant |
not provided [RCV002575618] |
Chr5:90694121 [GRCh38] Chr5:89989938 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13896A>G (p.Ile4632Met) |
single nucleotide variant |
not provided [RCV002667792] |
Chr5:90789704 [GRCh38] Chr5:90085521 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16836T>C (p.Tyr5612=) |
single nucleotide variant |
not provided [RCV003041035] |
Chr5:90840802 [GRCh38] Chr5:90136619 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7188A>G (p.Val2396=) |
single nucleotide variant |
not provided [RCV002574783] |
Chr5:90693944 [GRCh38] Chr5:89989761 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.11478del (p.Asp3827fs) |
deletion |
not provided [RCV003025302] |
Chr5:90755083 [GRCh38] Chr5:90050900 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.2312A>T (p.Asp771Val) |
single nucleotide variant |
not provided [RCV002932849] |
Chr5:90642707 [GRCh38] Chr5:89938524 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18261del (p.Gln6088fs) |
deletion |
not provided [RCV002664370] |
Chr5:91072555 [GRCh38] Chr5:90368372 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.6850G>A (p.Asp2284Asn) |
single nucleotide variant |
not provided [RCV003023761] |
Chr5:90690940 [GRCh38] Chr5:89986757 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3635-20C>T |
single nucleotide variant |
not provided [RCV003024002] |
Chr5:90653189 [GRCh38] Chr5:89949006 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17514T>C (p.Val5838=) |
single nucleotide variant |
not provided [RCV002700552] |
Chr5:90854121 [GRCh38] Chr5:90149938 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12667-14_12667-13del |
deletion |
not provided [RCV002574067] |
Chr5:90778412..90778413 [GRCh38] Chr5:90074229..90074230 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11726C>T (p.Pro3909Leu) |
single nucleotide variant |
not provided [RCV003040107] |
Chr5:90756599 [GRCh38] Chr5:90052416 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1239-4T>G |
single nucleotide variant |
not provided [RCV002593899] |
Chr5:90628558 [GRCh38] Chr5:89924375 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18802+15A>G |
single nucleotide variant |
not provided [RCV002666536] |
Chr5:91153413 [GRCh38] Chr5:90449230 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11258G>A (p.Gly3753Asp) |
single nucleotide variant |
not provided [RCV002958755] |
Chr5:90753710 [GRCh38] Chr5:90049527 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15894T>C (p.Thr5298=) |
single nucleotide variant |
not provided [RCV002745613] |
Chr5:90811154 [GRCh38] Chr5:90106971 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4193T>C (p.Leu1398Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002916281] |
Chr5:90653767 [GRCh38] Chr5:89949584 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12285+1G>T |
single nucleotide variant |
not provided [RCV003007551] |
Chr5:90763470 [GRCh38] Chr5:90059287 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.1579A>G (p.Lys527Glu) |
single nucleotide variant |
not provided [RCV003023109] |
Chr5:90629279 [GRCh38] Chr5:89925096 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11204T>A (p.Val3735Glu) |
single nucleotide variant |
not provided [RCV002982925] |
Chr5:90753656 [GRCh38] Chr5:90049473 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2834G>A (p.Gly945Glu) |
single nucleotide variant |
not provided [RCV002575709] |
Chr5:90644805 [GRCh38] Chr5:89940622 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14635G>C (p.Val4879Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002853812] |
Chr5:90802856 [GRCh38] Chr5:90098673 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.466G>T (p.Ala156Ser) |
single nucleotide variant |
not provided [RCV002701471] |
Chr5:90622609 [GRCh38] Chr5:89918426 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.454-14G>A |
single nucleotide variant |
not provided [RCV002917384] |
Chr5:90622583 [GRCh38] Chr5:89918400 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15798T>G (p.Cys5266Trp) |
single nucleotide variant |
not provided [RCV003043209] |
Chr5:90811058 [GRCh38] Chr5:90106875 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8566+7G>T |
single nucleotide variant |
not provided [RCV002958643] |
Chr5:90705586 [GRCh38] Chr5:90001403 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18116del (p.Ser6039fs) |
deletion |
not provided [RCV002828321] |
Chr5:90985486 [GRCh38] Chr5:90281303 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.13894-1G>C |
single nucleotide variant |
not provided [RCV002830184] |
Chr5:90789701 [GRCh38] Chr5:90085518 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.9125A>G (p.Lys3042Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002850101] |
Chr5:90712369 [GRCh38] Chr5:90008186 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14918_14919dup (p.Val4974fs) |
duplication |
not provided [RCV002928439] |
Chr5:90807681..90807682 [GRCh38] Chr5:90103498..90103499 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.493G>A (p.Glu165Lys) |
single nucleotide variant |
not provided [RCV003006195] |
Chr5:90622636 [GRCh38] Chr5:89918453 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5163C>T (p.Thr1721=) |
single nucleotide variant |
not provided [RCV002828815] |
Chr5:90675295 [GRCh38] Chr5:89971112 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2296A>G (p.Ile766Val) |
single nucleotide variant |
not provided [RCV002625855] |
Chr5:90642691 [GRCh38] Chr5:89938508 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17712A>G (p.Ser5904=) |
single nucleotide variant |
not provided [RCV002957792] |
Chr5:90855858 [GRCh38] Chr5:90151675 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1155A>G (p.Pro385=) |
single nucleotide variant |
not provided [RCV002875533] |
Chr5:90627693 [GRCh38] Chr5:89923510 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18009T>C (p.Asp6003=) |
single nucleotide variant |
not provided [RCV003022189] |
Chr5:90985379 [GRCh38] Chr5:90281196 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11868A>G (p.Lys3956=) |
single nucleotide variant |
not provided [RCV002572962] |
Chr5:90757089 [GRCh38] Chr5:90052906 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10616T>C (p.Phe3539Ser) |
single nucleotide variant |
not provided [RCV002508515] |
Chr5:90745112 [GRCh38] Chr5:90040929 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12304A>T (p.Ile4102Phe) |
single nucleotide variant |
not provided [RCV002958682] |
Chr5:90774204 [GRCh38] Chr5:90070021 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12228A>G (p.Ile4076Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002665003] |
Chr5:90763412 [GRCh38] Chr5:90059229 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9460T>C (p.Ser3154Pro) |
single nucleotide variant |
not provided [RCV002625883] |
Chr5:90720060 [GRCh38] Chr5:90015877 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.17309A>G (p.Tyr5770Cys) |
single nucleotide variant |
not provided [RCV003042147] |
Chr5:90853388 [GRCh38] Chr5:90149205 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4378+20C>T |
single nucleotide variant |
not provided [RCV002642422] |
Chr5:90653972 [GRCh38] Chr5:89949789 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4693A>G (p.Ile1565Val) |
single nucleotide variant |
not provided [RCV002700723] |
Chr5:90658219 [GRCh38] Chr5:89954036 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13247G>A (p.Gly4416Glu) |
single nucleotide variant |
not provided [RCV002626174] |
Chr5:90783139 [GRCh38] Chr5:90078956 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12523A>G (p.Ile4175Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002826558] |
Chr5:90776572 [GRCh38] Chr5:90072389 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4320G>T (p.Leu1440=) |
single nucleotide variant |
not provided [RCV002624132] |
Chr5:90653894 [GRCh38] Chr5:89949711 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13795_13802dup (p.Glu4601fs) |
duplication |
not provided [RCV002852776] |
Chr5:90788211..90788212 [GRCh38] Chr5:90084028..90084029 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1070C>T (p.Ser357Leu) |
single nucleotide variant |
not provided [RCV002918961] |
Chr5:90627608 [GRCh38] Chr5:89923425 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.8540T>C (p.Phe2847Ser) |
single nucleotide variant |
not provided [RCV002872714] |
Chr5:90705553 [GRCh38] Chr5:90001370 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18437T>A (p.Leu6146His) |
single nucleotide variant |
not provided [RCV003057042] |
Chr5:91150034 [GRCh38] Chr5:90445851 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6458A>G (p.Lys2153Arg) |
single nucleotide variant |
not provided [RCV002983126] |
Chr5:90685963 [GRCh38] Chr5:89981780 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14973-18A>G |
single nucleotide variant |
not provided [RCV002851774] |
Chr5:90810215 [GRCh38] Chr5:90106032 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18910A>G (p.Thr6304Ala) |
single nucleotide variant |
not provided [RCV002918811] |
Chr5:91163889 [GRCh38] Chr5:90459706 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.589G>A (p.Asp197Asn) |
single nucleotide variant |
not provided [RCV002928383] |
Chr5:90625160 [GRCh38] Chr5:89920977 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4787T>C (p.Val1596Ala) |
single nucleotide variant |
not provided [RCV002594195] |
Chr5:90672580 [GRCh38] Chr5:89968397 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17283_17284delinsTT (p.Lys5762Ter) |
indel |
not provided [RCV002830183] |
Chr5:90853362..90853363 [GRCh38] Chr5:90149179..90149180 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.18625-1G>T |
single nucleotide variant |
not provided [RCV002741700] |
Chr5:91153220 [GRCh38] Chr5:90449037 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.9449C>G (p.Ala3150Gly) |
single nucleotide variant |
not provided [RCV002765624] |
Chr5:90720049 [GRCh38] Chr5:90015866 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18283G>A (p.Val6095Ile) |
single nucleotide variant |
not provided [RCV002575598] |
Chr5:91072577 [GRCh38] Chr5:90368394 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.471G>T (p.Val157=) |
single nucleotide variant |
not provided [RCV002890183] |
Chr5:90622614 [GRCh38] Chr5:89918431 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4289T>A (p.Ile1430Asn) |
single nucleotide variant |
not provided [RCV002741759] |
Chr5:90653863 [GRCh38] Chr5:89949680 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12914T>C (p.Met4305Thr) |
single nucleotide variant |
not provided [RCV002667132] |
Chr5:90778929 [GRCh38] Chr5:90074746 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.12515C>T (p.Thr4172Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002986599] |
Chr5:90776564 [GRCh38] Chr5:90072381 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15850A>G (p.Asn5284Asp) |
single nucleotide variant |
not provided [RCV003041028] |
Chr5:90811110 [GRCh38] Chr5:90106927 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5042G>A (p.Ser1681Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002699654] |
Chr5:90674166 [GRCh38] Chr5:89969983 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.676C>T (p.Pro226Ser) |
single nucleotide variant |
not provided [RCV003084712] |
Chr5:90627214 [GRCh38] Chr5:89923031 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17560T>C (p.Ser5854Pro) |
single nucleotide variant |
not provided [RCV003025111] |
Chr5:90854167 [GRCh38] Chr5:90149984 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6246T>G (p.Thr2082=) |
single nucleotide variant |
not provided [RCV002982770] |
Chr5:90684167 [GRCh38] Chr5:89979984 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1899T>G (p.Phe633Leu) |
single nucleotide variant |
not provided [RCV003058065] |
Chr5:90635173 [GRCh38] Chr5:89930990 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6416A>G (p.Asn2139Ser) |
single nucleotide variant |
not provided [RCV003083185] |
Chr5:90685921 [GRCh38] Chr5:89981738 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10521C>T (p.Ile3507=) |
single nucleotide variant |
not provided [RCV002851942] |
Chr5:90729736 [GRCh38] Chr5:90025553 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9547C>T (p.His3183Tyr) |
single nucleotide variant |
not provided [RCV003024383] |
Chr5:90720147 [GRCh38] Chr5:90015964 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7252G>T (p.Val2418Leu) |
single nucleotide variant |
not provided [RCV003024935] |
Chr5:90694008 [GRCh38] Chr5:89989825 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11221C>G (p.Arg3741Gly) |
single nucleotide variant |
not provided [RCV003059378] |
Chr5:90753673 [GRCh38] Chr5:90049490 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16319C>A (p.Thr5440Lys) |
single nucleotide variant |
not provided [RCV002741848] |
Chr5:90823547 [GRCh38] Chr5:90119364 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13756G>A (p.Glu4586Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002743316] |
Chr5:90788173 [GRCh38] Chr5:90083990 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15199A>G (p.Lys5067Glu) |
single nucleotide variant |
not provided [RCV002700218] |
Chr5:90810459 [GRCh38] Chr5:90106276 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.7306C>A (p.Leu2436Met) |
single nucleotide variant |
not provided [RCV003022591] |
Chr5:90694062 [GRCh38] Chr5:89989879 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10450T>C (p.Phe3484Leu) |
single nucleotide variant |
not provided [RCV002740978] |
Chr5:90729665 [GRCh38] Chr5:90025482 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.672+16A>G |
single nucleotide variant |
not provided [RCV002666597] |
Chr5:90625259 [GRCh38] Chr5:89921076 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18373C>T (p.His6125Tyr) |
single nucleotide variant |
not provided [RCV003007516] |
Chr5:91102281 [GRCh38] Chr5:90398098 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3635-15A>G |
single nucleotide variant |
not provided [RCV002894513] |
Chr5:90653194 [GRCh38] Chr5:89949011 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11377+10G>A |
single nucleotide variant |
not provided [RCV002642297] |
Chr5:90753839 [GRCh38] Chr5:90049656 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3387A>G (p.Ala1129=) |
single nucleotide variant |
not provided [RCV002852992] |
Chr5:90651701 [GRCh38] Chr5:89947518 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17847A>G (p.Leu5949=) |
single nucleotide variant |
not provided [RCV002626247] |
Chr5:90863848 [GRCh38] Chr5:90159665 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4757C>T (p.Ala1586Val) |
single nucleotide variant |
not provided [RCV003043070] |
Chr5:90672550 [GRCh38] Chr5:89968367 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18764C>G (p.Ser6255Cys) |
single nucleotide variant |
not provided [RCV003006513] |
Chr5:91153360 [GRCh38] Chr5:90449177 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13083-17T>C |
single nucleotide variant |
not provided [RCV002667394] |
Chr5:90781413 [GRCh38] Chr5:90077230 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18857G>A (p.Gly6286Asp) |
single nucleotide variant |
not provided [RCV003056339] |
Chr5:91163836 [GRCh38] Chr5:90459653 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16537G>A (p.Ala5513Thr) |
single nucleotide variant |
not provided [RCV002710588] |
Chr5:90829112 [GRCh38] Chr5:90124929 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16040del (p.Asp5347fs) |
deletion |
not provided [RCV002640734] |
Chr5:90811300 [GRCh38] Chr5:90107117 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.3021A>G (p.Ala1007=) |
single nucleotide variant |
not provided [RCV002595936] |
Chr5:90646090 [GRCh38] Chr5:89941907 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1238+13_1238+14del |
deletion |
not provided [RCV003042715] |
Chr5:90627787..90627788 [GRCh38] Chr5:89923604..89923605 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4929+8dup |
duplication |
not provided [RCV002596463] |
Chr5:90672727..90672728 [GRCh38] Chr5:89968544..89968545 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.22+17G>T |
single nucleotide variant |
not provided [RCV003043088] |
Chr5:90558934 [GRCh38] Chr5:89854751 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5524+14C>T |
single nucleotide variant |
not provided [RCV002825707] |
Chr5:90679643 [GRCh38] Chr5:89975460 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4433G>A (p.Gly1478Asp) |
single nucleotide variant |
not provided [RCV002741535] |
Chr5:90657959 [GRCh38] Chr5:89953776 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17744T>C (p.Ile5915Thr) |
single nucleotide variant |
not provided [RCV003055892] |
Chr5:90855890 [GRCh38] Chr5:90151707 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13731C>T (p.Ser4577=) |
single nucleotide variant |
not provided [RCV002700019] |
Chr5:90788148 [GRCh38] Chr5:90083965 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4644A>G (p.Val1548=) |
single nucleotide variant |
not provided [RCV003055913] |
Chr5:90658170 [GRCh38] Chr5:89953987 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10740C>T (p.Tyr3580=) |
single nucleotide variant |
not provided [RCV002890587] |
Chr5:90745236 [GRCh38] Chr5:90041053 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16556A>T (p.Gln5519Leu) |
single nucleotide variant |
not provided [RCV002746067] |
Chr5:90829131 [GRCh38] Chr5:90124948 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9160C>A (p.Leu3054Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002703486] |
Chr5:90712404 [GRCh38] Chr5:90008221 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6490+8_6490+9insGTTCATATGGAACCAAAAAAGAGCCCGCATCGCCAAGGCAATCCTAAGCCA |
insertion |
not provided [RCV002671768] |
Chr5:90686002..90686003 [GRCh38] Chr5:89981819..89981820 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10173G>A (p.Trp3391Ter) |
single nucleotide variant |
not provided [RCV002966646] |
Chr5:90728680 [GRCh38] Chr5:90024497 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.11745T>A (p.Phe3915Leu) |
single nucleotide variant |
not provided [RCV003031228] |
Chr5:90756618 [GRCh38] Chr5:90052435 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11866A>G (p.Lys3956Glu) |
single nucleotide variant |
not provided [RCV003063762] |
Chr5:90757087 [GRCh38] Chr5:90052904 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5962G>A (p.Val1988Ile) |
single nucleotide variant |
not provided [RCV002600885] |
Chr5:90683883 [GRCh38] Chr5:89979700 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11895A>G (p.Glu3965=) |
single nucleotide variant |
not provided [RCV002650582] |
Chr5:90757116 [GRCh38] Chr5:90052933 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.22+3A>C |
single nucleotide variant |
not provided [RCV003048706] |
Chr5:90558920 [GRCh38] Chr5:89854737 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5445A>G (p.Val1815=) |
single nucleotide variant |
not provided [RCV003063833] |
Chr5:90679550 [GRCh38] Chr5:89975367 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13429G>T (p.Glu4477Ter) |
single nucleotide variant |
not provided [RCV002810819] |
Chr5:90783321 [GRCh38] Chr5:90079138 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.8684T>C (p.Leu2895Ser) |
single nucleotide variant |
not provided [RCV002807128] |
Chr5:90706348 [GRCh38] Chr5:90002165 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17756-12T>C |
single nucleotide variant |
not provided [RCV003031851] |
Chr5:90863745 [GRCh38] Chr5:90159562 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13829T>C (p.Ile4610Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002935278] |
Chr5:90788246 [GRCh38] Chr5:90084063 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16094A>G (p.Asn5365Ser) |
single nucleotide variant |
not provided [RCV003026527] |
Chr5:90815634 [GRCh38] Chr5:90111451 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16311A>C (p.Thr5437=) |
single nucleotide variant |
not provided [RCV003009328] |
Chr5:90823539 [GRCh38] Chr5:90119356 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14973-6del |
deletion |
not provided [RCV003066071] |
Chr5:90810221 [GRCh38] Chr5:90106038 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.4159A>G (p.Ile1387Val) |
single nucleotide variant |
not provided [RCV003032005] |
Chr5:90653733 [GRCh38] Chr5:89949550 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15620delinsAAA (p.Val5207fs) |
indel |
not provided [RCV002962248] |
Chr5:90810880 [GRCh38] Chr5:90106697 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.15621G>A (p.Val5207=) |
single nucleotide variant |
not provided [RCV002962249] |
Chr5:90810881 [GRCh38] Chr5:90106698 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8389G>A (p.Val2797Ile) |
single nucleotide variant |
not provided [RCV002671296] |
Chr5:90705402 [GRCh38] Chr5:90001219 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5524+14_5524+25del |
deletion |
not provided [RCV002672063] |
Chr5:90679640..90679651 [GRCh38] Chr5:89975457..89975468 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11118A>C (p.Gly3706=) |
single nucleotide variant |
not provided [RCV003030104] |
Chr5:90750694 [GRCh38] Chr5:90046511 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18450G>A (p.Met6150Ile) |
single nucleotide variant |
not provided [RCV002601880] |
Chr5:91150047 [GRCh38] Chr5:90445864 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.228T>G (p.Gly76=) |
single nucleotide variant |
not provided [RCV003030878] |
Chr5:90617824 [GRCh38] Chr5:89913641 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2851G>A (p.Asp951Asn) |
single nucleotide variant |
not provided [RCV002938766] |
Chr5:90644822 [GRCh38] Chr5:89940639 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8797G>A (p.Ala2933Thr) |
single nucleotide variant |
not provided [RCV002967099] |
Chr5:90708882 [GRCh38] Chr5:90004699 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10032A>C (p.Thr3344=) |
single nucleotide variant |
not provided [RCV003064098] |
Chr5:90725211 [GRCh38] Chr5:90021028 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17870C>T (p.Ala5957Val) |
single nucleotide variant |
not provided [RCV002646670] |
Chr5:90965428 [GRCh38] Chr5:90261245 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3703A>G (p.Asn1235Asp) |
single nucleotide variant |
not provided [RCV002833172] |
Chr5:90653277 [GRCh38] Chr5:89949094 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3322A>G (p.Thr1108Ala) |
single nucleotide variant |
not provided [RCV003030766] |
Chr5:90651636 [GRCh38] Chr5:89947453 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6995T>C (p.Ile2332Thr) |
single nucleotide variant |
not provided [RCV002966214] |
Chr5:90692648 [GRCh38] Chr5:89988465 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16320A>G (p.Thr5440=) |
single nucleotide variant |
not provided [RCV002601180] |
Chr5:90823548 [GRCh38] Chr5:90119365 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10886A>G (p.Lys3629Arg) |
single nucleotide variant |
not provided [RCV002721021] |
Chr5:90745707 [GRCh38] Chr5:90041524 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10534C>T (p.Pro3512Ser) |
single nucleotide variant |
not provided [RCV002967173] |
Chr5:90729749 [GRCh38] Chr5:90025566 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5707T>C (p.Trp1903Arg) |
single nucleotide variant |
not provided [RCV002810096] |
Chr5:90683628 [GRCh38] Chr5:89979445 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12075A>G (p.Pro4025=) |
single nucleotide variant |
not provided [RCV003046657] |
Chr5:90759543 [GRCh38] Chr5:90055360 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14186A>G (p.Asp4729Gly) |
single nucleotide variant |
not provided [RCV003047540] |
Chr5:90791015 [GRCh38] Chr5:90086832 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18022_18023del (p.Arg6008fs) |
microsatellite |
not provided [RCV003031404] |
Chr5:90985388..90985389 [GRCh38] Chr5:90281205..90281206 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.5794A>G (p.Thr1932Ala) |
single nucleotide variant |
not provided [RCV002812138] |
Chr5:90683715 [GRCh38] Chr5:89979532 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7673C>G (p.Pro2558Arg) |
single nucleotide variant |
not provided [RCV002721243] |
Chr5:90694429 [GRCh38] Chr5:89990246 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11143G>T (p.Val3715Leu) |
single nucleotide variant |
not provided [RCV002650319] |
Chr5:90753595 [GRCh38] Chr5:90049412 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14420A>G (p.His4807Arg) |
single nucleotide variant |
not provided [RCV002716372] |
Chr5:90791249 [GRCh38] Chr5:90087066 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9184+7A>G |
single nucleotide variant |
not provided [RCV002676123] |
Chr5:90712435 [GRCh38] Chr5:90008252 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14586C>G (p.Phe4862Leu) |
single nucleotide variant |
not provided [RCV002720481] |
Chr5:90802807 [GRCh38] Chr5:90098624 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15899C>G (p.Thr5300Ser) |
single nucleotide variant |
not provided [RCV002720504] |
Chr5:90811159 [GRCh38] Chr5:90106976 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4049A>C (p.Asn1350Thr) |
single nucleotide variant |
not provided [RCV002812112] |
Chr5:90653623 [GRCh38] Chr5:89949440 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14718C>T (p.His4906=) |
single nucleotide variant |
not provided [RCV002649464] |
Chr5:90805340 [GRCh38] Chr5:90101157 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2560G>A (p.Glu854Lys) |
single nucleotide variant |
not provided [RCV002811302] |
Chr5:90643809 [GRCh38] Chr5:89939626 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.847G>A (p.Val283Ile) |
single nucleotide variant |
not provided [RCV003009038] |
Chr5:90627385 [GRCh38] Chr5:89923202 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17743A>G (p.Ile5915Val) |
single nucleotide variant |
not provided [RCV002650268] |
Chr5:90855889 [GRCh38] Chr5:90151706 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5677C>T (p.His1893Tyr) |
single nucleotide variant |
not provided [RCV003047066] |
Chr5:90683598 [GRCh38] Chr5:89979415 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13098C>T (p.Thr4366=) |
single nucleotide variant |
not provided [RCV002631541] |
Chr5:90781445 [GRCh38] Chr5:90077262 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3088G>A (p.Val1030Ile) |
single nucleotide variant |
not provided [RCV002578719] |
Chr5:90647563 [GRCh38] Chr5:89943380 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13494G>T (p.Gly4498=) |
single nucleotide variant |
not provided [RCV002720464] |
Chr5:90783898 [GRCh38] Chr5:90079715 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9257T>G (p.Leu3086Arg) |
single nucleotide variant |
not provided [RCV003030532] |
Chr5:90716539 [GRCh38] Chr5:90012356 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18757G>T (p.Glu6253Ter) |
single nucleotide variant |
not provided [RCV003047744] |
Chr5:91153353 [GRCh38] Chr5:90449170 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.17374T>A (p.Cys5792Ser) |
single nucleotide variant |
not provided [RCV003030505] |
Chr5:90853453 [GRCh38] Chr5:90149270 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.633_634del (p.Arg211fs) |
microsatellite |
not provided [RCV003009648] |
Chr5:90625202..90625203 [GRCh38] Chr5:89921019..89921020 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.3432A>C (p.Arg1144=) |
single nucleotide variant |
not provided [RCV002598451] |
Chr5:90652361 [GRCh38] Chr5:89948178 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14771C>T (p.Thr4924Ile) |
single nucleotide variant |
not provided [RCV003087189] |
Chr5:90805393 [GRCh38] Chr5:90101210 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2368-18G>A |
single nucleotide variant |
not provided [RCV002600640] |
Chr5:90642838 [GRCh38] Chr5:89938655 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13335C>T (p.Pro4445=) |
single nucleotide variant |
not provided [RCV002601560] |
Chr5:90783227 [GRCh38] Chr5:90079044 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11802G>A (p.Leu3934=) |
single nucleotide variant |
not provided [RCV003044299] |
Chr5:90757023 [GRCh38] Chr5:90052840 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13232-13G>A |
single nucleotide variant |
not provided [RCV002597949] |
Chr5:90783111 [GRCh38] Chr5:90078928 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11239G>A (p.Val3747Ile) |
single nucleotide variant |
not provided [RCV002806760] |
Chr5:90753691 [GRCh38] Chr5:90049508 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5725C>T (p.Pro1909Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002921709] |
Chr5:90683646 [GRCh38] Chr5:89979463 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3860T>C (p.Ile1287Thr) |
single nucleotide variant |
not provided [RCV003088580] |
Chr5:90653434 [GRCh38] Chr5:89949251 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6490+10G>A |
single nucleotide variant |
not provided [RCV002671769] |
Chr5:90686005 [GRCh38] Chr5:89981822 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12474G>T (p.Arg4158Ser) |
single nucleotide variant |
not provided [RCV003026419] |
Chr5:90776523 [GRCh38] Chr5:90072340 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7440G>A (p.Trp2480Ter) |
single nucleotide variant |
not provided [RCV003043887] |
Chr5:90694196 [GRCh38] Chr5:89990013 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.12855C>T (p.Asn4285=) |
single nucleotide variant |
not provided [RCV003009526] |
Chr5:90778870 [GRCh38] Chr5:90074687 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12552G>T (p.Leu4184Phe) |
single nucleotide variant |
not provided [RCV002628377] |
Chr5:90777929 [GRCh38] Chr5:90073746 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17519A>G (p.Tyr5840Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003170911]|not provided [RCV003027472] |
Chr5:90854126 [GRCh38] Chr5:90149943 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3634+13dup |
duplication |
not provided [RCV002806521] |
Chr5:90652571..90652572 [GRCh38] Chr5:89948388..89948389 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.4454C>A (p.Ser1485Tyr) |
single nucleotide variant |
not provided [RCV002646868] |
Chr5:90657980 [GRCh38] Chr5:89953797 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6951+6A>G |
single nucleotide variant |
not provided [RCV002856857] |
Chr5:90691047 [GRCh38] Chr5:89986864 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4536A>C (p.Gly1512=) |
single nucleotide variant |
not provided [RCV002856861] |
Chr5:90658062 [GRCh38] Chr5:89953879 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4993T>C (p.Leu1665=) |
single nucleotide variant |
not provided [RCV002599536] |
Chr5:90674117 [GRCh38] Chr5:89969934 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11880C>A (p.Asp3960Glu) |
single nucleotide variant |
not provided [RCV003044067] |
Chr5:90757101 [GRCh38] Chr5:90052918 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11832G>A (p.Leu3944=) |
single nucleotide variant |
not provided [RCV002806533] |
Chr5:90757053 [GRCh38] Chr5:90052870 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9205A>G (p.Asn3069Asp) |
single nucleotide variant |
not provided [RCV002922976] |
Chr5:90716487 [GRCh38] Chr5:90012304 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11721C>T (p.Asp3907=) |
single nucleotide variant |
not provided [RCV002648056] |
Chr5:90756594 [GRCh38] Chr5:90052411 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2136C>A (p.Gly712=) |
single nucleotide variant |
not provided [RCV003086258] |
Chr5:90637844 [GRCh38] Chr5:89933661 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3836G>C (p.Gly1279Ala) |
single nucleotide variant |
not provided [RCV003026621] |
Chr5:90653410 [GRCh38] Chr5:89949227 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2791G>A (p.Val931Met) |
single nucleotide variant |
not provided [RCV002715110] |
Chr5:90644762 [GRCh38] Chr5:89940579 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.18421A>G (p.Asn6141Asp) |
single nucleotide variant |
not provided [RCV002922093] |
Chr5:91102329 [GRCh38] Chr5:90398146 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16611+10G>A |
single nucleotide variant |
not provided [RCV002599853] |
Chr5:90829196 [GRCh38] Chr5:90125013 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12933A>T (p.Ala4311=) |
single nucleotide variant |
not provided [RCV002898917] |
Chr5:90778948 [GRCh38] Chr5:90074765 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4525C>T (p.Pro1509Ser) |
single nucleotide variant |
not provided [RCV002597535] |
Chr5:90658051 [GRCh38] Chr5:89953868 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1339G>T (p.Ala447Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002959718] |
Chr5:90628662 [GRCh38] Chr5:89924479 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12907A>G (p.Lys4303Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002879164] |
Chr5:90778922 [GRCh38] Chr5:90074739 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3320C>G (p.Ala1107Gly) |
single nucleotide variant |
not provided [RCV002629683] |
Chr5:90651634 [GRCh38] Chr5:89947451 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11910T>A (p.Ser3970=) |
single nucleotide variant |
not provided [RCV002579692] |
Chr5:90757131 [GRCh38] Chr5:90052948 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2135G>C (p.Gly712Ala) |
single nucleotide variant |
not provided [RCV002646085] |
Chr5:90637843 [GRCh38] Chr5:89933660 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4492C>T (p.Leu1498Phe) |
single nucleotide variant |
not provided [RCV002806824] |
Chr5:90658018 [GRCh38] Chr5:89953835 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2963G>A (p.Gly988Glu) |
single nucleotide variant |
not provided [RCV003029234] |
Chr5:90646032 [GRCh38] Chr5:89941849 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2251G>A (p.Glu751Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002920416] |
Chr5:90642646 [GRCh38] Chr5:89938463 [GRCh37] Chr5:5q14.3 |
benign|uncertain significance |
NM_032119.4(ADGRV1):c.18553G>A (p.Gly6185Arg) |
single nucleotide variant |
not provided [RCV002630649] |
Chr5:91150150 [GRCh38] Chr5:90445967 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13549A>G (p.Ile4517Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003348889]|not provided [RCV002714930] |
Chr5:90783953 [GRCh38] Chr5:90079770 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.4285A>G (p.Ile1429Val) |
single nucleotide variant |
not provided [RCV002791823] |
Chr5:90653859 [GRCh38] Chr5:89949676 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5818G>C (p.Asp1940His) |
single nucleotide variant |
not provided [RCV002670774] |
Chr5:90683739 [GRCh38] Chr5:89979556 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.714T>G (p.Ser238Arg) |
single nucleotide variant |
not provided [RCV003009511] |
Chr5:90627252 [GRCh38] Chr5:89923069 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16543_16544dup (p.Leu5515fs) |
duplication |
not provided [RCV003028348] |
Chr5:90829116..90829117 [GRCh38] Chr5:90124933..90124934 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.6779G>A (p.Arg2260Gln) |
single nucleotide variant |
not provided [RCV002672272] |
Chr5:90690869 [GRCh38] Chr5:89986686 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3814T>C (p.Leu1272=) |
single nucleotide variant |
not provided [RCV002597870] |
Chr5:90653388 [GRCh38] Chr5:89949205 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6490+5G>A |
single nucleotide variant |
not provided [RCV002647028] |
Chr5:90686000 [GRCh38] Chr5:89981817 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5500T>C (p.Phe1834Leu) |
single nucleotide variant |
not provided [RCV003010007] |
Chr5:90679605 [GRCh38] Chr5:89975422 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17182_17184del (p.Thr5728del) |
deletion |
not provided [RCV002857222] |
Chr5:90848798..90848800 [GRCh38] Chr5:90144615..90144617 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12078A>G (p.Gln4026=) |
single nucleotide variant |
not provided [RCV002806781] |
Chr5:90759546 [GRCh38] Chr5:90055363 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8092A>G (p.Asn2698Asp) |
single nucleotide variant |
not provided [RCV002715245] |
Chr5:90697083 [GRCh38] Chr5:89992900 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9084T>C (p.Asn3028=) |
single nucleotide variant |
not provided [RCV002921982] |
Chr5:90712328 [GRCh38] Chr5:90008145 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11940+12A>G |
single nucleotide variant |
not provided [RCV003026784] |
Chr5:90757173 [GRCh38] Chr5:90052990 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14086T>G (p.Phe4696Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003167825]|not provided [RCV002834506] |
Chr5:90790915 [GRCh38] Chr5:90086732 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11110A>G (p.Thr3704Ala) |
single nucleotide variant |
not provided [RCV002988352] |
Chr5:90750686 [GRCh38] Chr5:90046503 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14517+17C>G |
single nucleotide variant |
not provided [RCV003009334] |
Chr5:90791363 [GRCh38] Chr5:90087180 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5879G>T (p.Gly1960Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002793012] |
Chr5:90683800 [GRCh38] Chr5:89979617 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3638G>A (p.Gly1213Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002896944] |
Chr5:90653212 [GRCh38] Chr5:89949029 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10975-2A>C |
single nucleotide variant |
not provided [RCV003010243] |
Chr5:90750549 [GRCh38] Chr5:90046366 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.5356A>G (p.Lys1786Glu) |
single nucleotide variant |
not provided [RCV002833481] |
Chr5:90676122 [GRCh38] Chr5:89971939 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13649T>G (p.Ile4550Ser) |
single nucleotide variant |
not provided [RCV002714844] |
Chr5:90784053 [GRCh38] Chr5:90079870 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5927A>T (p.Tyr1976Phe) |
single nucleotide variant |
not provided [RCV002646720] |
Chr5:90683848 [GRCh38] Chr5:89979665 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13334C>G (p.Pro4445Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002713966] |
Chr5:90783226 [GRCh38] Chr5:90079043 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.24G>T (p.Gly8=) |
single nucleotide variant |
not provided [RCV002601538] |
Chr5:90614836 [GRCh38] Chr5:89910653 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10602G>T (p.Ser3534=) |
single nucleotide variant |
not provided [RCV002877429] |
Chr5:90745098 [GRCh38] Chr5:90040915 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1238+19A>G |
single nucleotide variant |
not provided [RCV003027570] |
Chr5:90627795 [GRCh38] Chr5:89923612 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9916A>G (p.Ile3306Val) |
single nucleotide variant |
not provided [RCV003045319] |
Chr5:90725095 [GRCh38] Chr5:90020912 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4192del (p.Leu1398fs) |
deletion |
not provided [RCV002578299] |
Chr5:90653764 [GRCh38] Chr5:89949581 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.9593_9594del (p.Gly3198fs) |
deletion |
not provided [RCV003046426] |
Chr5:90720191..90720192 [GRCh38] Chr5:90016008..90016009 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.154C>T (p.Arg52Cys) |
single nucleotide variant |
not provided [RCV003064550] |
Chr5:90614966 [GRCh38] Chr5:89910783 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9042+17A>G |
single nucleotide variant |
not provided [RCV002576561] |
Chr5:90711339 [GRCh38] Chr5:90007156 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7571T>C (p.Val2524Ala) |
single nucleotide variant |
not provided [RCV002597950] |
Chr5:90694327 [GRCh38] Chr5:89990144 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18609C>T (p.Ile6203=) |
single nucleotide variant |
not provided [RCV002598171] |
Chr5:91150206 [GRCh38] Chr5:90446023 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.643A>G (p.Ile215Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002896068] |
Chr5:90625214 [GRCh38] Chr5:89921031 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7737G>C (p.Val2579=) |
single nucleotide variant |
not provided [RCV003010490] |
Chr5:90694493 [GRCh38] Chr5:89990310 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18210G>A (p.Thr6070=) |
single nucleotide variant |
not provided [RCV002577026] |
Chr5:91072504 [GRCh38] Chr5:90368321 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3956G>C (p.Arg1319Pro) |
single nucleotide variant |
not provided [RCV003026857] |
Chr5:90653530 [GRCh38] Chr5:89949347 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18584T>C (p.Ile6195Thr) |
single nucleotide variant |
not provided [RCV002715084] |
Chr5:91150181 [GRCh38] Chr5:90445998 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2248G>A (p.Val750Met) |
single nucleotide variant |
not provided [RCV002600545] |
Chr5:90642643 [GRCh38] Chr5:89938460 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12121-20A>C |
single nucleotide variant |
not provided [RCV003046084] |
Chr5:90763285 [GRCh38] Chr5:90059102 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8083A>G (p.Ile2695Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002807807] |
Chr5:90697074 [GRCh38] Chr5:89992891 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2130T>G (p.Phe710Leu) |
single nucleotide variant |
not provided [RCV002600877] |
Chr5:90637838 [GRCh38] Chr5:89933655 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5781G>C (p.Thr1927=) |
single nucleotide variant |
not provided [RCV003031031] |
Chr5:90683702 [GRCh38] Chr5:89979519 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16551T>G (p.Ser5517Arg) |
single nucleotide variant |
not provided [RCV003030124] |
Chr5:90829126 [GRCh38] Chr5:90124943 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.206C>T (p.Ser69Leu) |
single nucleotide variant |
not provided [RCV003091150] |
Chr5:90615018 [GRCh38] Chr5:89910835 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15357del (p.Ala5120fs) |
deletion |
not provided [RCV002715933] |
Chr5:90810616 [GRCh38] Chr5:90106433 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.5179G>A (p.Val1727Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003046577]|not provided [RCV003046576] |
Chr5:90675311 [GRCh38] Chr5:89971128 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17461T>C (p.Ser5821Pro) |
single nucleotide variant |
not provided [RCV002601409] |
Chr5:90854068 [GRCh38] Chr5:90149885 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11757+7T>A |
single nucleotide variant |
not provided [RCV003048160] |
Chr5:90756637 [GRCh38] Chr5:90052454 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9589T>C (p.Leu3197=) |
single nucleotide variant |
not provided [RCV002601933] |
Chr5:90720189 [GRCh38] Chr5:90016006 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4379-14G>T |
single nucleotide variant |
not provided [RCV002833227] |
Chr5:90657891 [GRCh38] Chr5:89953708 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6262_6263del (p.Gln2088fs) |
deletion |
not provided [RCV002810097] |
Chr5:90684182..90684183 [GRCh38] Chr5:89979999..89980000 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.5018G>C (p.Gly1673Ala) |
single nucleotide variant |
not provided [RCV002650187] |
Chr5:90674142 [GRCh38] Chr5:89969959 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.4099A>G (p.Thr1367Ala) |
single nucleotide variant |
not provided [RCV002806608] |
Chr5:90653673 [GRCh38] Chr5:89949490 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18086T>C (p.Ile6029Thr) |
single nucleotide variant |
not provided [RCV002833243] |
Chr5:90985456 [GRCh38] Chr5:90281273 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2460T>G (p.Asn820Lys) |
single nucleotide variant |
not provided [RCV003045807] |
Chr5:90642948 [GRCh38] Chr5:89938765 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10581T>C (p.Ser3527=) |
single nucleotide variant |
not provided [RCV002631322] |
Chr5:90745077 [GRCh38] Chr5:90040894 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17521A>G (p.Arg5841Gly) |
single nucleotide variant |
not provided [RCV002811929] |
Chr5:90854128 [GRCh38] Chr5:90149945 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12849+1G>T |
single nucleotide variant |
not provided [RCV002811106] |
Chr5:90778610 [GRCh38] Chr5:90074427 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.10476C>T (p.Ser3492=) |
single nucleotide variant |
not provided [RCV002597862] |
Chr5:90729691 [GRCh38] Chr5:90025508 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8831A>C (p.Glu2944Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002856023] |
Chr5:90710987 [GRCh38] Chr5:90006804 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13879G>A (p.Asp4627Asn) |
single nucleotide variant |
not provided [RCV002898549] |
Chr5:90788296 [GRCh38] Chr5:90084113 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17304A>C (p.Gly5768=) |
single nucleotide variant |
not provided [RCV002895222] |
Chr5:90853383 [GRCh38] Chr5:90149200 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18152+1G>T |
single nucleotide variant |
not provided [RCV002877367] |
Chr5:90985523 [GRCh38] Chr5:90281340 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.18914dup (p.His6305fs) |
duplication |
not provided [RCV002811744] |
Chr5:91163892..91163893 [GRCh38] Chr5:90459709..90459710 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9871G>A (p.Val3291Ile) |
single nucleotide variant |
not provided [RCV002895193] |
Chr5:90724954 [GRCh38] Chr5:90020771 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12865A>G (p.Ile4289Val) |
single nucleotide variant |
not provided [RCV002937955] |
Chr5:90778880 [GRCh38] Chr5:90074697 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10769+2T>A |
single nucleotide variant |
not provided [RCV002899049] |
Chr5:90745267 [GRCh38] Chr5:90041084 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.11215C>T (p.Leu3739Phe) |
single nucleotide variant |
not provided [RCV002580506] |
Chr5:90753667 [GRCh38] Chr5:90049484 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6983G>A (p.Gly2328Asp) |
single nucleotide variant |
not provided [RCV002806577] |
Chr5:90692636 [GRCh38] Chr5:89988453 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6732A>G (p.Val2244=) |
single nucleotide variant |
not provided [RCV002581364] |
Chr5:90690822 [GRCh38] Chr5:89986639 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4929+12C>G |
single nucleotide variant |
not provided [RCV002578697] |
Chr5:90672734 [GRCh38] Chr5:89968551 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3416+11G>A |
single nucleotide variant |
not provided [RCV002580528] |
Chr5:90651741 [GRCh38] Chr5:89947558 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7307T>G (p.Leu2436Arg) |
single nucleotide variant |
not provided [RCV002650714]|not specified [RCV003324042] |
Chr5:90694063 [GRCh38] Chr5:89989880 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.6852C>A (p.Asp2284Glu) |
single nucleotide variant |
not provided [RCV002746066] |
Chr5:90690942 [GRCh38] Chr5:89986759 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.7547G>A (p.Gly2516Asp) |
single nucleotide variant |
not provided [RCV002791849] |
Chr5:90694303 [GRCh38] Chr5:89990120 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6663A>G (p.Ala2221=) |
single nucleotide variant |
not provided [RCV003044773] |
Chr5:90690033 [GRCh38] Chr5:89985850 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7595C>T (p.Pro2532Leu) |
single nucleotide variant |
not provided [RCV002856382] |
Chr5:90694351 [GRCh38] Chr5:89990168 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5001T>G (p.Ser1667=) |
single nucleotide variant |
not provided [RCV003027583] |
Chr5:90674125 [GRCh38] Chr5:89969942 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8728G>C (p.Glu2910Gln) |
single nucleotide variant |
not provided [RCV002578722] |
Chr5:90706392 [GRCh38] Chr5:90002209 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10636C>A (p.Pro3546Thr) |
single nucleotide variant |
not provided [RCV003048212] |
Chr5:90745132 [GRCh38] Chr5:90040949 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10651G>C (p.Val3551Leu) |
single nucleotide variant |
not provided [RCV003048213] |
Chr5:90745147 [GRCh38] Chr5:90040964 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15772A>G (p.Thr5258Ala) |
single nucleotide variant |
not provided [RCV003065833] |
Chr5:90811032 [GRCh38] Chr5:90106849 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6339T>C (p.Asn2113=) |
single nucleotide variant |
not provided [RCV002598043] |
Chr5:90685844 [GRCh38] Chr5:89981661 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5110+13T>G |
single nucleotide variant |
not provided [RCV002895896] |
Chr5:90674247 [GRCh38] Chr5:89970064 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15839del (p.Tyr5280fs) |
deletion |
not provided [RCV002807264] |
Chr5:90811099 [GRCh38] Chr5:90106916 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.3634+27_3634+44del |
deletion |
not provided [RCV002600985] |
Chr5:90652574..90652591 [GRCh38] Chr5:89948391..89948408 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8432C>G (p.Ala2811Gly) |
single nucleotide variant |
ADGRV1-related condition [RCV003404021]|not provided [RCV003030349] |
Chr5:90705445 [GRCh38] Chr5:90001262 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15596C>G (p.Pro5199Arg) |
single nucleotide variant |
not provided [RCV002938971] |
Chr5:90810856 [GRCh38] Chr5:90106673 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10997A>G (p.Glu3666Gly) |
single nucleotide variant |
not provided [RCV002650818] |
Chr5:90750573 [GRCh38] Chr5:90046390 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.743C>T (p.Ser248Phe) |
single nucleotide variant |
not provided [RCV003031288] |
Chr5:90627281 [GRCh38] Chr5:89923098 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18414C>T (p.Val6138=) |
single nucleotide variant |
not provided [RCV002598075] |
Chr5:91102322 [GRCh38] Chr5:90398139 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8852T>G (p.Ile2951Ser) |
single nucleotide variant |
not provided [RCV002895922] |
Chr5:90711008 [GRCh38] Chr5:90006825 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3685A>C (p.Thr1229Pro) |
single nucleotide variant |
not provided [RCV002895454] |
Chr5:90653259 [GRCh38] Chr5:89949076 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13180G>T (p.Asp4394Tyr) |
single nucleotide variant |
not provided [RCV002715010] |
Chr5:90781527 [GRCh38] Chr5:90077344 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13611A>G (p.Ser4537=) |
single nucleotide variant |
not provided [RCV002937254] |
Chr5:90784015 [GRCh38] Chr5:90079832 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18715C>G (p.Pro6239Ala) |
single nucleotide variant |
not provided [RCV002834627] |
Chr5:91153311 [GRCh38] Chr5:90449128 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.23-13C>A |
single nucleotide variant |
not provided [RCV002810491] |
Chr5:90614822 [GRCh38] Chr5:89910639 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4008A>G (p.Ala1336=) |
single nucleotide variant |
not provided [RCV002746240] |
Chr5:90653582 [GRCh38] Chr5:89949399 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16780C>T (p.Arg5594Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002832476] |
Chr5:90840746 [GRCh38] Chr5:90136563 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14574C>T (p.Val4858=) |
single nucleotide variant |
not provided [RCV003027097] |
Chr5:90802795 [GRCh38] Chr5:90098612 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3277T>C (p.Leu1093=) |
single nucleotide variant |
not provided [RCV002856737] |
Chr5:90647752 [GRCh38] Chr5:89943569 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.287T>C (p.Val96Ala) |
single nucleotide variant |
not provided [RCV002631985] |
Chr5:90617883 [GRCh38] Chr5:89913700 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2755A>T (p.Asn919Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002921269] |
Chr5:90644726 [GRCh38] Chr5:89940543 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6610C>A (p.Gln2204Lys) |
single nucleotide variant |
not provided [RCV002715659] |
Chr5:90689980 [GRCh38] Chr5:89985797 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.1289C>G (p.Ser430Cys) |
single nucleotide variant |
not provided [RCV003061847] |
Chr5:90628612 [GRCh38] Chr5:89924429 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2264T>C (p.Leu755Pro) |
single nucleotide variant |
not provided [RCV002676054] |
Chr5:90642659 [GRCh38] Chr5:89938476 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032119.4(ADGRV1):c.1546G>A (p.Gly516Ser) |
single nucleotide variant |
not provided [RCV003049048] |
Chr5:90629246 [GRCh38] Chr5:89925063 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.614T>G (p.Ile205Ser) |
single nucleotide variant |
not provided [RCV002646196] |
Chr5:90625185 [GRCh38] Chr5:89921002 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.9007G>A (p.Ala3003Thr) |
single nucleotide variant |
not provided [RCV003044148] |
Chr5:90711287 [GRCh38] Chr5:90007104 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15416A>G (p.Glu5139Gly) |
single nucleotide variant |
not provided [RCV003026690] |
Chr5:90810676 [GRCh38] Chr5:90106493 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17787C>A (p.Phe5929Leu) |
single nucleotide variant |
not provided [RCV003044647] |
Chr5:90863788 [GRCh38] Chr5:90159605 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18184T>C (p.Phe6062Leu) |
single nucleotide variant |
not provided [RCV003061889] |
Chr5:91072478 [GRCh38] Chr5:90368295 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10427-10A>C |
single nucleotide variant |
not provided [RCV002857100] |
Chr5:90729632 [GRCh38] Chr5:90025449 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6275-10T>A |
single nucleotide variant |
not provided [RCV002833899] |
Chr5:90685770 [GRCh38] Chr5:89981587 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13321T>G (p.Ser4441Ala) |
single nucleotide variant |
not provided [RCV003046239] |
Chr5:90783213 [GRCh38] Chr5:90079030 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3680A>C (p.Gln1227Pro) |
single nucleotide variant |
not provided [RCV002834787] |
Chr5:90653254 [GRCh38] Chr5:89949071 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5612T>C (p.Leu1871Pro) |
single nucleotide variant |
not provided [RCV002720288] |
Chr5:90681402 [GRCh38] Chr5:89977219 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4278T>C (p.His1426=) |
single nucleotide variant |
not provided [RCV002675696] |
Chr5:90653852 [GRCh38] Chr5:89949669 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15382G>C (p.Asp5128His) |
single nucleotide variant |
not provided [RCV002715423] |
Chr5:90810642 [GRCh38] Chr5:90106459 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5249T>C (p.Leu1750Pro) |
single nucleotide variant |
not provided [RCV002833916] |
Chr5:90675381 [GRCh38] Chr5:89971198 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2726T>C (p.Ile909Thr) |
single nucleotide variant |
not provided [RCV002646737] |
Chr5:90643975 [GRCh38] Chr5:89939792 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15601G>A (p.Val5201Met) |
single nucleotide variant |
not provided [RCV003009753] |
Chr5:90810861 [GRCh38] Chr5:90106678 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2612G>A (p.Gly871Glu) |
single nucleotide variant |
not provided [RCV002791642] |
Chr5:90643861 [GRCh38] Chr5:89939678 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9623+19G>A |
single nucleotide variant |
not provided [RCV002832995] |
Chr5:90720242 [GRCh38] Chr5:90016059 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5532A>G (p.Leu1844=) |
single nucleotide variant |
not provided [RCV002898551] |
Chr5:90681322 [GRCh38] Chr5:89977139 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14027C>T (p.Thr4676Ile) |
single nucleotide variant |
not provided [RCV002962153] |
Chr5:90789835 [GRCh38] Chr5:90085652 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10770-18A>G |
single nucleotide variant |
not provided [RCV002631366] |
Chr5:90745573 [GRCh38] Chr5:90041390 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11563G>T (p.Glu3855Ter) |
single nucleotide variant |
not provided [RCV002856573] |
Chr5:90755168 [GRCh38] Chr5:90050985 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.192del (p.Thr65fs) |
deletion |
not provided [RCV002898607] |
Chr5:90615003 [GRCh38] Chr5:89910820 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.18107A>G (p.Tyr6036Cys) |
single nucleotide variant |
not provided [RCV002597940] |
Chr5:90985477 [GRCh38] Chr5:90281294 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13946T>G (p.Leu4649Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002935862] |
Chr5:90789754 [GRCh38] Chr5:90085571 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13869C>G (p.Ser4623=) |
single nucleotide variant |
not provided [RCV002942510] |
Chr5:90788286 [GRCh38] Chr5:90084103 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12594G>T (p.Val4198=) |
single nucleotide variant |
not provided [RCV002605645] |
Chr5:90777971 [GRCh38] Chr5:90073788 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4488T>C (p.Tyr1496=) |
single nucleotide variant |
not provided [RCV002634901] |
Chr5:90658014 [GRCh38] Chr5:89953831 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16384G>A (p.Val5462Met) |
single nucleotide variant |
not provided [RCV003051964] |
Chr5:90828959 [GRCh38] Chr5:90124776 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18501C>T (p.Tyr6167=) |
single nucleotide variant |
not provided [RCV002583366] |
Chr5:91150098 [GRCh38] Chr5:90445915 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9867T>C (p.Val3289=) |
single nucleotide variant |
not provided [RCV002725751] |
Chr5:90724950 [GRCh38] Chr5:90020767 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17973+15C>A |
single nucleotide variant |
not provided [RCV003032227] |
Chr5:90965546 [GRCh38] Chr5:90261363 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11807TTC[1] (p.Leu3937del) |
microsatellite |
not provided [RCV002725856] |
Chr5:90757028..90757030 [GRCh38] Chr5:90052845..90052847 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14661+19G>T |
single nucleotide variant |
not provided [RCV002943458] |
Chr5:90802901 [GRCh38] Chr5:90098718 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16270G>C (p.Val5424Leu) |
single nucleotide variant |
not provided [RCV002943465] |
Chr5:90823498 [GRCh38] Chr5:90119315 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6178A>G (p.Ile2060Val) |
single nucleotide variant |
not provided [RCV002604893] |
Chr5:90684099 [GRCh38] Chr5:89979916 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.3099T>G (p.Thr1033=) |
single nucleotide variant |
not provided [RCV002605400] |
Chr5:90647574 [GRCh38] Chr5:89943391 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11420G>T (p.Gly3807Val) |
single nucleotide variant |
not provided [RCV002605584] |
Chr5:90755025 [GRCh38] Chr5:90050842 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1969A>C (p.Asn657His) |
single nucleotide variant |
not provided [RCV002583682] |
Chr5:90635243 [GRCh38] Chr5:89931060 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8824G>C (p.Asp2942His) |
single nucleotide variant |
not provided [RCV002722114] |
Chr5:90708909 [GRCh38] Chr5:90004726 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12301A>T (p.Thr4101Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002679879] |
Chr5:90774201 [GRCh38] Chr5:90070018 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18281A>G (p.Asp6094Gly) |
single nucleotide variant |
not provided [RCV003050045] |
Chr5:91072575 [GRCh38] Chr5:90368392 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5824G>A (p.Glu1942Lys) |
single nucleotide variant |
not provided [RCV002605082] |
Chr5:90683745 [GRCh38] Chr5:89979562 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16810G>A (p.Gly5604Ser) |
single nucleotide variant |
not provided [RCV003068524] |
Chr5:90840776 [GRCh38] Chr5:90136593 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10769+12A>G |
single nucleotide variant |
not provided [RCV002814750] |
Chr5:90745277 [GRCh38] Chr5:90041094 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8679G>C (p.Leu2893=) |
single nucleotide variant |
not provided [RCV002814992] |
Chr5:90706343 [GRCh38] Chr5:90002160 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5183C>G (p.Pro1728Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002944634] |
Chr5:90675315 [GRCh38] Chr5:89971132 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15928C>T (p.Arg5310Cys) |
single nucleotide variant |
not provided [RCV002605123] |
Chr5:90811188 [GRCh38] Chr5:90107005 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.17205-19C>A |
single nucleotide variant |
not provided [RCV002722041] |
Chr5:90853265 [GRCh38] Chr5:90149082 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12090A>G (p.Pro4030=) |
single nucleotide variant |
not provided [RCV003092614] |
Chr5:90759558 [GRCh38] Chr5:90055375 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18310+8A>G |
single nucleotide variant |
not provided [RCV002680940] |
Chr5:91072612 [GRCh38] Chr5:90368429 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15694G>A (p.Glu5232Lys) |
single nucleotide variant |
not provided [RCV002654247] |
Chr5:90810954 [GRCh38] Chr5:90106771 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1492G>A (p.Val498Met) |
single nucleotide variant |
not provided [RCV002635581] |
Chr5:90628815 [GRCh38] Chr5:89924632 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5155G>A (p.Ala1719Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003167789]|not provided [RCV002814538] |
Chr5:90675287 [GRCh38] Chr5:89971104 [GRCh37] Chr5:5q14.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.18695C>T (p.Pro6232Leu) |
single nucleotide variant |
not provided [RCV003051961] |
Chr5:91153291 [GRCh38] Chr5:90449108 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9688G>T (p.Gly3230Cys) |
single nucleotide variant |
not provided [RCV003051980] |
Chr5:90720999 [GRCh38] Chr5:90016816 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3273C>A (p.Ile1091=) |
single nucleotide variant |
not provided [RCV002815092] |
Chr5:90647748 [GRCh38] Chr5:89943565 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1537G>T (p.Asp513Tyr) |
single nucleotide variant |
not provided [RCV002653199] |
Chr5:90629237 [GRCh38] Chr5:89925054 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9028A>G (p.Ile3010Val) |
single nucleotide variant |
not provided [RCV002721858] |
Chr5:90711308 [GRCh38] Chr5:90007125 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3021A>T (p.Ala1007=) |
single nucleotide variant |
not provided [RCV002721343] |
Chr5:90646090 [GRCh38] Chr5:89941907 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13434-2A>T |
single nucleotide variant |
not provided [RCV002635319] |
Chr5:90783836 [GRCh38] Chr5:90079653 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.9624-16C>T |
single nucleotide variant |
not provided [RCV002584611] |
Chr5:90720919 [GRCh38] Chr5:90016736 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3076A>G (p.Arg1026Gly) |
single nucleotide variant |
not provided [RCV002942105] |
Chr5:90647551 [GRCh38] Chr5:89943368 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14982C>T (p.Phe4994=) |
single nucleotide variant |
not provided [RCV002676725] |
Chr5:90810242 [GRCh38] Chr5:90106059 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17756-17C>G |
single nucleotide variant |
not provided [RCV002583340] |
Chr5:90863740 [GRCh38] Chr5:90159557 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6248T>C (p.Leu2083Ser) |
single nucleotide variant |
not provided [RCV002605434] |
Chr5:90684169 [GRCh38] Chr5:89979986 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15814A>C (p.Asn5272His) |
single nucleotide variant |
not provided [RCV003050159] |
Chr5:90811074 [GRCh38] Chr5:90106891 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4929+11C>T |
single nucleotide variant |
not provided [RCV002676937] |
Chr5:90672733 [GRCh38] Chr5:89968550 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11478C>T (p.Val3826=) |
single nucleotide variant |
not provided [RCV002657841] |
Chr5:90755083 [GRCh38] Chr5:90050900 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2109C>G (p.Thr703=) |
single nucleotide variant |
not provided [RCV002657937] |
Chr5:90637817 [GRCh38] Chr5:89933634 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16212C>T (p.Val5404=) |
single nucleotide variant |
not provided [RCV003092995] |
Chr5:90823440 [GRCh38] Chr5:90119257 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13793C>T (p.Pro4598Leu) |
single nucleotide variant |
not provided [RCV003032165] |
Chr5:90788210 [GRCh38] Chr5:90084027 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17455G>A (p.Val5819Ile) |
single nucleotide variant |
not provided [RCV002676856] |
Chr5:90854062 [GRCh38] Chr5:90149879 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18674G>A (p.Ser6225Asn) |
single nucleotide variant |
not provided [RCV002942959] |
Chr5:91153270 [GRCh38] Chr5:90449087 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10227C>A (p.Thr3409=) |
single nucleotide variant |
not provided [RCV002658356] |
Chr5:90728734 [GRCh38] Chr5:90024551 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16612-15T>G |
single nucleotide variant |
not provided [RCV002585707] |
Chr5:90840563 [GRCh38] Chr5:90136380 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5687T>C (p.Leu1896Pro) |
single nucleotide variant |
not provided [RCV002943516] |
Chr5:90683608 [GRCh38] Chr5:89979425 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13137A>G (p.Glu4379=) |
single nucleotide variant |
not provided [RCV002608347] |
Chr5:90781484 [GRCh38] Chr5:90077301 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15837C>T (p.Ile5279=) |
single nucleotide variant |
not provided [RCV003052348] |
Chr5:90811097 [GRCh38] Chr5:90106914 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11136A>G (p.Glu3712=) |
single nucleotide variant |
not provided [RCV002609844] |
Chr5:90753588 [GRCh38] Chr5:90049405 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1461T>A (p.Ile487=) |
single nucleotide variant |
not provided [RCV002586878] |
Chr5:90628784 [GRCh38] Chr5:89924601 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18330T>A (p.Tyr6110Ter) |
single nucleotide variant |
not provided [RCV002609923] |
Chr5:91102238 [GRCh38] Chr5:90398055 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.18311-9T>A |
single nucleotide variant |
not provided [RCV002604485] |
Chr5:91102210 [GRCh38] Chr5:90398027 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.223G>A (p.Ala75Thr) |
single nucleotide variant |
not provided [RCV002608630] |
Chr5:90617819 [GRCh38] Chr5:89913636 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.961G>A (p.Asp321Asn) |
single nucleotide variant |
not provided [RCV002610038] |
Chr5:90627499 [GRCh38] Chr5:89923316 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3493C>T (p.Pro1165Ser) |
single nucleotide variant |
not provided [RCV002814543] |
Chr5:90652422 [GRCh38] Chr5:89948239 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4984C>T (p.Arg1662Cys) |
single nucleotide variant |
not provided [RCV002608671] |
Chr5:90674108 [GRCh38] Chr5:89969925 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10278T>C (p.Ala3426=) |
single nucleotide variant |
not provided [RCV002654249] |
Chr5:90728785 [GRCh38] Chr5:90024602 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12235A>G (p.Lys4079Glu) |
single nucleotide variant |
not provided [RCV002604615] |
Chr5:90763419 [GRCh38] Chr5:90059236 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.14150A>G (p.His4717Arg) |
single nucleotide variant |
not provided [RCV002605311] |
Chr5:90790979 [GRCh38] Chr5:90086796 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.1493T>A (p.Val498Glu) |
single nucleotide variant |
not provided [RCV003070891] |
Chr5:90628816 [GRCh38] Chr5:89924633 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2016+11T>C |
single nucleotide variant |
not provided [RCV002589938] |
Chr5:90635301 [GRCh38] Chr5:89931118 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18310+15A>G |
single nucleotide variant |
not provided [RCV002634439] |
Chr5:91072619 [GRCh38] Chr5:90368436 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7352C>T (p.Ala2451Val) |
single nucleotide variant |
not provided [RCV002587185] |
Chr5:90694108 [GRCh38] Chr5:89989925 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18803G>A (p.Gly6268Asp) |
single nucleotide variant |
not provided [RCV002654375] |
Chr5:91163782 [GRCh38] Chr5:90459599 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18152+12C>A |
single nucleotide variant |
not provided [RCV002654388] |
Chr5:90985534 [GRCh38] Chr5:90281351 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17594+7A>G |
single nucleotide variant |
not provided [RCV003052088] |
Chr5:90854208 [GRCh38] Chr5:90150025 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17204+19A>G |
single nucleotide variant |
not provided [RCV002587292] |
Chr5:90848840 [GRCh38] Chr5:90144657 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6275-17G>A |
single nucleotide variant |
not provided [RCV002635834] |
Chr5:90685763 [GRCh38] Chr5:89981580 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12667-12G>C |
single nucleotide variant |
not provided [RCV002587353] |
Chr5:90778415 [GRCh38] Chr5:90074232 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6491-1G>A |
single nucleotide variant |
not provided [RCV002722035] |
Chr5:90689860 [GRCh38] Chr5:89985677 [GRCh37] Chr5:5q14.3 |
pathogenic|likely pathogenic |
NM_032119.4(ADGRV1):c.18146G>T (p.Gly6049Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002656089]|not provided [RCV003325617] |
Chr5:90985516 [GRCh38] Chr5:90281333 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10686C>A (p.Ser3562Arg) |
single nucleotide variant |
not provided [RCV002586520]|not specified [RCV003226547] |
Chr5:90745182 [GRCh38] Chr5:90040999 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5777A>G (p.Gln1926Arg) |
single nucleotide variant |
not provided [RCV002608183] |
Chr5:90683698 [GRCh38] Chr5:89979515 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.22+12C>A |
single nucleotide variant |
not provided [RCV002609097] |
Chr5:90558929 [GRCh38] Chr5:89854746 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6474A>G (p.Pro2158=) |
single nucleotide variant |
not provided [RCV002613071] |
Chr5:90685979 [GRCh38] Chr5:89981796 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8730+7CT[3] |
microsatellite |
not provided [RCV003066496] |
Chr5:90706400..90706401 [GRCh38] Chr5:90002217..90002218 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10653G>A (p.Val3551=) |
single nucleotide variant |
not provided [RCV002604456] |
Chr5:90745149 [GRCh38] Chr5:90040966 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12124A>G (p.Met4042Val) |
single nucleotide variant |
not provided [RCV002613246] |
Chr5:90763308 [GRCh38] Chr5:90059125 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.14556G>C (p.Leu4852=) |
single nucleotide variant |
not provided [RCV002654267] |
Chr5:90802777 [GRCh38] Chr5:90098594 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9407C>T (p.Ser3136Phe) |
single nucleotide variant |
not provided [RCV002653164] |
Chr5:90716689 [GRCh38] Chr5:90012506 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1066G>A (p.Glu356Lys) |
single nucleotide variant |
not provided [RCV002609367] |
Chr5:90627604 [GRCh38] Chr5:89923421 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.705A>T (p.Gln235His) |
single nucleotide variant |
not provided [RCV002657881] |
Chr5:90627243 [GRCh38] Chr5:89923060 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1242T>C (p.Tyr414=) |
single nucleotide variant |
not provided [RCV002588845] |
Chr5:90628565 [GRCh38] Chr5:89924382 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.833T>G (p.Ile278Arg) |
single nucleotide variant |
not provided [RCV002582831] |
Chr5:90627371 [GRCh38] Chr5:89923188 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8337T>C (p.Pro2779=) |
single nucleotide variant |
not provided [RCV002589103] |
Chr5:90704439 [GRCh38] Chr5:90000256 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3367C>T (p.Leu1123=) |
single nucleotide variant |
not provided [RCV002589151] |
Chr5:90651681 [GRCh38] Chr5:89947498 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3936G>A (p.Val1312=) |
single nucleotide variant |
not provided [RCV002680937] |
Chr5:90653510 [GRCh38] Chr5:89949327 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9112G>C (p.Glu3038Gln) |
single nucleotide variant |
not provided [RCV002653493] |
Chr5:90712356 [GRCh38] Chr5:90008173 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15317A>G (p.Asp5106Gly) |
single nucleotide variant |
not provided [RCV002635320] |
Chr5:90810577 [GRCh38] Chr5:90106394 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.8904-19T>G |
single nucleotide variant |
not provided [RCV002608132] |
Chr5:90711165 [GRCh38] Chr5:90006982 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18803-4G>A |
single nucleotide variant |
not provided [RCV002589342] |
Chr5:91163778 [GRCh38] Chr5:90459595 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15795A>G (p.Arg5265=) |
single nucleotide variant |
not provided [RCV002589428] |
Chr5:90811055 [GRCh38] Chr5:90106872 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2518A>T (p.Ile840Phe) |
single nucleotide variant |
not provided [RCV002584342] |
Chr5:90643006 [GRCh38] Chr5:89938823 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1310G>A (p.Arg437Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002583283]|not provided [RCV002583282] |
Chr5:90628633 [GRCh38] Chr5:89924450 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.506T>A (p.Leu169His) |
single nucleotide variant |
not provided [RCV002610541] |
Chr5:90622649 [GRCh38] Chr5:89918466 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NC_000005.10:g.90118339_90119245del |
deletion |
Usher syndrome type 2C [RCV003155545] |
Chr5:90118338..90119244 [GRCh38] Chr5:89414155..89415061 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.13156del (p.Val4386fs) |
deletion |
Usher syndrome [RCV003155827] |
Chr5:90781503 [GRCh38] Chr5:90077320 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.2898+2T>C |
single nucleotide variant |
Usher syndrome [RCV003155859] |
Chr5:90644871 [GRCh38] Chr5:89940688 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.558+5G>A |
single nucleotide variant |
not specified [RCV003155727] |
Chr5:90622706 [GRCh38] Chr5:89918523 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6219_6228dup (p.Glu2077fs) |
duplication |
Usher syndrome [RCV003226865] |
Chr5:90684136..90684137 [GRCh38] Chr5:89979953..89979954 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.3410C>T (p.Ala1137Val) |
single nucleotide variant |
not provided [RCV003229399] |
Chr5:90651724 [GRCh38] Chr5:89947541 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15313T>C (p.Phe5105Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003195823] |
Chr5:90810573 [GRCh38] Chr5:90106390 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1319C>T (p.Thr440Ile) |
single nucleotide variant |
not provided [RCV003229146] |
Chr5:90628642 [GRCh38] Chr5:89924459 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6293T>C (p.Leu2098Pro) |
single nucleotide variant |
Usher syndrome type 2C [RCV003229557] |
Chr5:90685798 [GRCh38] Chr5:89981615 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15328A>G (p.Ser5110Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003196120] |
Chr5:90810588 [GRCh38] Chr5:90106405 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16280T>A (p.Val5427Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003174679] |
Chr5:90823508 [GRCh38] Chr5:90119325 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10403T>C (p.Ile3468Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003195010] |
Chr5:90728910 [GRCh38] Chr5:90024727 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16157T>C (p.Met5386Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003189699] |
Chr5:90815697 [GRCh38] Chr5:90111514 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10664C>T (p.Thr3555Ile) |
single nucleotide variant |
not provided [RCV003218922] |
Chr5:90745160 [GRCh38] Chr5:90040977 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4889C>T (p.Ala1630Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003220637] |
Chr5:90672682 [GRCh38] Chr5:89968499 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15361G>A (p.Val5121Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003215784] |
Chr5:90810621 [GRCh38] Chr5:90106438 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2310T>A (p.Asp770Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003219786] |
Chr5:90642705 [GRCh38] Chr5:89938522 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3160C>G (p.Pro1054Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003204569] |
Chr5:90647635 [GRCh38] Chr5:89943452 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5485G>T (p.Gly1829Trp) |
single nucleotide variant |
not provided [RCV003141213] |
Chr5:90679590 [GRCh38] Chr5:89975407 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.5110+3A>G |
single nucleotide variant |
not provided [RCV003141214] |
Chr5:90674237 [GRCh38] Chr5:89970054 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17792C>A (p.Ala5931Asp) |
single nucleotide variant |
not provided [RCV003141215] |
Chr5:90863793 [GRCh38] Chr5:90159610 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16930C>T (p.Leu5644Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003197931] |
Chr5:90840896 [GRCh38] Chr5:90136713 [GRCh37] Chr5:5q14.3 |
likely benign|uncertain significance |
NM_032119.4(ADGRV1):c.13130C>T (p.Pro4377Leu) |
single nucleotide variant |
not provided [RCV003159426] |
Chr5:90781477 [GRCh38] Chr5:90077294 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.12456del (p.Gly4152_Ile4153insTer) |
deletion |
not provided [RCV003223183] |
Chr5:90776503 [GRCh38] Chr5:90072320 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4930-3T>G |
single nucleotide variant |
not provided [RCV003229416] |
Chr5:90674051 [GRCh38] Chr5:89969868 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.896A>G (p.Tyr299Cys) |
single nucleotide variant |
not provided [RCV003225551] |
Chr5:90627434 [GRCh38] Chr5:89923251 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10583C>T (p.Ala3528Val) |
single nucleotide variant |
not provided [RCV003227340] |
Chr5:90745079 [GRCh38] Chr5:90040896 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15044T>C (p.Ile5015Thr) |
single nucleotide variant |
not provided [RCV003323234] |
Chr5:90810304 [GRCh38] Chr5:90106121 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7373C>G (p.Ser2458Cys) |
single nucleotide variant |
not provided [RCV003318860] |
Chr5:90694129 [GRCh38] Chr5:89989946 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16171C>T (p.Leu5391Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003287310] |
Chr5:90815711 [GRCh38] Chr5:90111528 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10053+15A>G |
single nucleotide variant |
not provided [RCV003568979] |
Chr5:90725247 [GRCh38] Chr5:90021064 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8716A>G (p.Ile2906Val) |
single nucleotide variant |
not provided [RCV003319705] |
Chr5:90706380 [GRCh38] Chr5:90002197 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3941T>A (p.Leu1314Ter) |
single nucleotide variant |
Usher syndrome type 2C [RCV003325930] |
Chr5:90653515 [GRCh38] Chr5:89949332 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
GRCh38/hg38 5q14.3-15(chr5:88189536-93784597)x1 |
copy number loss |
Intellectual disability, autosomal dominant 20 [RCV003327617] |
Chr5:88189536..93784597 [GRCh38] Chr5:5q14.3-15 |
pathogenic |
NM_032119.4(ADGRV1):c.9904G>C (p.Glu3302Gln) |
single nucleotide variant |
not provided [RCV003325749] |
Chr5:90724987 [GRCh38] Chr5:90020804 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15769A>T (p.Ile5257Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003357124] |
Chr5:90811029 [GRCh38] Chr5:90106846 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9163G>C (p.Glu3055Gln) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV003336644] |
Chr5:90712407 [GRCh38] Chr5:90008224 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13820C>A (p.Thr4607Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003343270] |
Chr5:90788237 [GRCh38] Chr5:90084054 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18455A>G (p.Tyr6152Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003378716] |
Chr5:91150052 [GRCh38] Chr5:90445869 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17305G>A (p.Asp5769Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003343446] |
Chr5:90853384 [GRCh38] Chr5:90149201 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.1505C>A (p.Ala502Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003381447] |
Chr5:90628828 [GRCh38] Chr5:89924645 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6088A>G (p.Asn2030Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003384772] |
Chr5:90684009 [GRCh38] Chr5:89979826 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4225T>C (p.Tyr1409His) |
single nucleotide variant |
Inborn genetic diseases [RCV003372028] |
Chr5:90653799 [GRCh38] Chr5:89949616 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3133G>A (p.Ala1045Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003377443] |
Chr5:90647608 [GRCh38] Chr5:89943425 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.16288C>G (p.Leu5430Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003364959] |
Chr5:90823516 [GRCh38] Chr5:90119333 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3055A>G (p.Thr1019Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003356049] |
Chr5:90647530 [GRCh38] Chr5:89943347 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9550G>T (p.Val3184Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003383072] |
Chr5:90720150 [GRCh38] Chr5:90015967 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10810A>G (p.Thr3604Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003375183] |
Chr5:90745631 [GRCh38] Chr5:90041448 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11934T>G (p.Asp3978Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003383708] |
Chr5:90757155 [GRCh38] Chr5:90052972 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17371A>G (p.Thr5791Ala) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV003445373] |
Chr5:90853450 [GRCh38] Chr5:90149267 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2020T>C (p.Tyr674His) |
single nucleotide variant |
Inborn genetic diseases [RCV003376884] |
Chr5:90637728 [GRCh38] Chr5:89933545 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.17773C>G (p.Leu5925Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003370167] |
Chr5:90863774 [GRCh38] Chr5:90159591 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13433+11A>G |
single nucleotide variant |
not provided [RCV003543673] |
Chr5:90783336 [GRCh38] Chr5:90079153 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7583C>T (p.Pro2528Leu) |
single nucleotide variant |
not provided [RCV003569317] |
Chr5:90694339 [GRCh38] Chr5:89990156 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.582del (p.Asp195fs) |
deletion |
not provided [RCV003875789] |
Chr5:90625153 [GRCh38] Chr5:89920970 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.351A>T (p.Thr117=) |
single nucleotide variant |
not provided [RCV003686280] |
Chr5:90617947 [GRCh38] Chr5:89913764 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1710A>C (p.Ala570=) |
single nucleotide variant |
not provided [RCV003569991] |
Chr5:90629410 [GRCh38] Chr5:89925227 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10515C>T (p.Asn3505=) |
single nucleotide variant |
not provided [RCV003543159] |
Chr5:90729730 [GRCh38] Chr5:90025547 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10345_10366del (p.Pro3449fs) |
deletion |
not provided [RCV003571222] |
Chr5:90728851..90728872 [GRCh38] Chr5:90024668..90024689 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.9862del (p.Ser3288fs) |
deletion |
not provided [RCV003712694] |
Chr5:90724945 [GRCh38] Chr5:90020762 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16249G>T (p.Val5417Phe) |
single nucleotide variant |
not provided [RCV003873145] |
Chr5:90823477 [GRCh38] Chr5:90119294 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17204+20T>G |
single nucleotide variant |
not provided [RCV003569859] |
Chr5:90848841 [GRCh38] Chr5:90144658 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16035G>A (p.Lys5345=) |
single nucleotide variant |
not provided [RCV003569569] |
Chr5:90811295 [GRCh38] Chr5:90107112 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14837-20T>G |
single nucleotide variant |
not provided [RCV003543072] |
Chr5:90807582 [GRCh38] Chr5:90103399 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5111-5A>T |
single nucleotide variant |
not provided [RCV003543349] |
Chr5:90675238 [GRCh38] Chr5:89971055 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8742A>G (p.Pro2914=) |
single nucleotide variant |
not provided [RCV003543726] |
Chr5:90708827 [GRCh38] Chr5:90004644 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9335T>C (p.Phe3112Ser) |
single nucleotide variant |
not provided [RCV003481764] |
Chr5:90716617 [GRCh38] Chr5:90012434 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.10512T>G (p.Val3504=) |
single nucleotide variant |
not provided [RCV003570404] |
Chr5:90729727 [GRCh38] Chr5:90025544 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10253C>T (p.Ser3418Phe) |
single nucleotide variant |
not provided [RCV003874280] |
Chr5:90728760 [GRCh38] Chr5:90024577 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.740C>T (p.Thr247Ile) |
single nucleotide variant |
not provided [RCV003487879] |
Chr5:90627278 [GRCh38] Chr5:89923095 [GRCh37] Chr5:5q14.3 |
conflicting interpretations of pathogenicity |
NM_032119.4(ADGRV1):c.1502dup (p.Ala502fs) |
duplication |
not provided [RCV003571505] |
Chr5:90628823..90628824 [GRCh38] Chr5:89924640..89924641 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.18041T>C (p.Phe6014Ser) |
single nucleotide variant |
not provided [RCV003571749] |
Chr5:90985411 [GRCh38] Chr5:90281228 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16584A>G (p.Leu5528=) |
single nucleotide variant |
not provided [RCV003569757] |
Chr5:90829159 [GRCh38] Chr5:90124976 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2568C>T (p.Tyr856=) |
single nucleotide variant |
not provided [RCV003569773] |
Chr5:90643817 [GRCh38] Chr5:89939634 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12927G>T (p.Ala4309=) |
single nucleotide variant |
not provided [RCV003569694] |
Chr5:90778942 [GRCh38] Chr5:90074759 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3023-13G>T |
single nucleotide variant |
not provided [RCV003543711] |
Chr5:90647485 [GRCh38] Chr5:89943302 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13764A>G (p.Gly4588=) |
single nucleotide variant |
not provided [RCV003570274] |
Chr5:90788181 [GRCh38] Chr5:90083998 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2517G>A (p.Val839=) |
single nucleotide variant |
not provided [RCV003571526] |
Chr5:90643005 [GRCh38] Chr5:89938822 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13792C>A (p.Pro4598Thr) |
single nucleotide variant |
not provided [RCV003875369] |
Chr5:90788209 [GRCh38] Chr5:90084026 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11572A>G (p.Ile3858Val) |
single nucleotide variant |
not provided [RCV003571551] |
Chr5:90755177 [GRCh38] Chr5:90050994 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6490+13A>G |
single nucleotide variant |
not provided [RCV003543511] |
Chr5:90686008 [GRCh38] Chr5:89981825 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13195_13208del (p.Ile4399fs) |
deletion |
not provided [RCV003569996] |
Chr5:90781542..90781555 [GRCh38] Chr5:90077359..90077372 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.2607G>A (p.Lys869=) |
single nucleotide variant |
not provided [RCV003569998] |
Chr5:90643856 [GRCh38] Chr5:89939673 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8564dup (p.Gly2856fs) |
duplication |
not provided [RCV003569905] |
Chr5:90705576..90705577 [GRCh38] Chr5:90001393..90001394 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.10427-6T>A |
single nucleotide variant |
not provided [RCV003570576] |
Chr5:90729636 [GRCh38] Chr5:90025453 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11378-13G>T |
single nucleotide variant |
not provided [RCV003570577] |
Chr5:90754970 [GRCh38] Chr5:90050787 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4635A>T (p.Leu1545=) |
single nucleotide variant |
not provided [RCV003543518] |
Chr5:90658161 [GRCh38] Chr5:89953978 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11781C>T (p.Ala3927=) |
single nucleotide variant |
not provided [RCV003571743] |
Chr5:90757002 [GRCh38] Chr5:90052819 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16079-4dup |
duplication |
not provided [RCV003570910] |
Chr5:90815608..90815609 [GRCh38] Chr5:90111425..90111426 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12288T>C (p.Thr4096=) |
single nucleotide variant |
not provided [RCV003875027] |
Chr5:90774188 [GRCh38] Chr5:90070005 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5313+11C>T |
single nucleotide variant |
not provided [RCV003570111] |
Chr5:90675456 [GRCh38] Chr5:89971273 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.717A>G (p.Val239=) |
single nucleotide variant |
not provided [RCV003875330] |
Chr5:90627255 [GRCh38] Chr5:89923072 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5994A>C (p.Thr1998=) |
single nucleotide variant |
not provided [RCV003875436] |
Chr5:90683915 [GRCh38] Chr5:89979732 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6883G>A (p.Ala2295Thr) |
single nucleotide variant |
not provided [RCV003571801] |
Chr5:90690973 [GRCh38] Chr5:89986790 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16131A>G (p.Gly5377=) |
single nucleotide variant |
not provided [RCV003570194] |
Chr5:90815671 [GRCh38] Chr5:90111488 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10107C>T (p.Asp3369=) |
single nucleotide variant |
not provided [RCV003875458] |
Chr5:90725602 [GRCh38] Chr5:90021419 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13231+1G>A |
single nucleotide variant |
not provided [RCV003570677] |
Chr5:90781579 [GRCh38] Chr5:90077396 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.1837C>T (p.Gln613Ter) |
single nucleotide variant |
not provided [RCV003570569] |
Chr5:90629537 [GRCh38] Chr5:89925354 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.14799T>C (p.Pro4933=) |
single nucleotide variant |
not provided [RCV003571557] |
Chr5:90805421 [GRCh38] Chr5:90101238 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14662-8del |
deletion |
not provided [RCV003543520] |
Chr5:90805273 [GRCh38] Chr5:90101090 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.13893+12T>A |
single nucleotide variant |
not provided [RCV003570695] |
Chr5:90788322 [GRCh38] Chr5:90084139 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11904A>G (p.Lys3968=) |
single nucleotide variant |
not provided [RCV003570699] |
Chr5:90757125 [GRCh38] Chr5:90052942 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10427-16T>C |
single nucleotide variant |
not provided [RCV003570998] |
Chr5:90729626 [GRCh38] Chr5:90025443 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2240+7A>G |
single nucleotide variant |
not provided [RCV003872765] |
Chr5:90637955 [GRCh38] Chr5:89933772 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12624G>A (p.Leu4208=) |
single nucleotide variant |
not provided [RCV003872829] |
Chr5:90778001 [GRCh38] Chr5:90073818 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2877C>T (p.Thr959=) |
single nucleotide variant |
not provided [RCV003874444] |
Chr5:90644848 [GRCh38] Chr5:89940665 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18353C>T (p.Thr6118Ile) |
single nucleotide variant |
not provided [RCV003875370] |
Chr5:91102261 [GRCh38] Chr5:90398078 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.312C>T (p.Asp104=) |
single nucleotide variant |
not provided [RCV003875659] |
Chr5:90617908 [GRCh38] Chr5:89913725 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8787T>C (p.Leu2929=) |
single nucleotide variant |
not provided [RCV003570534] |
Chr5:90708872 [GRCh38] Chr5:90004689 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5111-5A>C |
single nucleotide variant |
not provided [RCV003569095] |
Chr5:90675238 [GRCh38] Chr5:89971055 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2460T>C (p.Asn820=) |
single nucleotide variant |
not provided [RCV003569147] |
Chr5:90642948 [GRCh38] Chr5:89938765 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8182A>T (p.Arg2728Ter) |
single nucleotide variant |
not provided [RCV003571027] |
Chr5:90703691 [GRCh38] Chr5:89999508 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16023T>C (p.Ile5341=) |
single nucleotide variant |
not provided [RCV003571082] |
Chr5:90811283 [GRCh38] Chr5:90107100 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10974+18C>T |
single nucleotide variant |
not provided [RCV003571095] |
Chr5:90745813 [GRCh38] Chr5:90041630 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10185C>T (p.Ser3395=) |
single nucleotide variant |
not provided [RCV003686193] |
Chr5:90728692 [GRCh38] Chr5:90024509 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10234T>C (p.Leu3412=) |
single nucleotide variant |
not provided [RCV003543616] |
Chr5:90728741 [GRCh38] Chr5:90024558 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.47del (p.Val16fs) |
deletion |
not provided [RCV003571107] |
Chr5:90614859 [GRCh38] Chr5:89910676 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.4930-10A>G |
single nucleotide variant |
not provided [RCV003571391] |
Chr5:90674044 [GRCh38] Chr5:89969861 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14760T>C (p.Val4920=) |
single nucleotide variant |
not provided [RCV003571393] |
Chr5:90805382 [GRCh38] Chr5:90101199 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16273A>G (p.Asn5425Asp) |
single nucleotide variant |
not provided [RCV003872892] |
Chr5:90823501 [GRCh38] Chr5:90119318 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.14682T>G (p.Ala4894=) |
single nucleotide variant |
not provided [RCV003571127] |
Chr5:90805304 [GRCh38] Chr5:90101121 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10224G>C (p.Leu3408=) |
single nucleotide variant |
not provided [RCV003543012] |
Chr5:90728731 [GRCh38] Chr5:90024548 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17667C>T (p.His5889=) |
single nucleotide variant |
not provided [RCV003543351] |
Chr5:90855813 [GRCh38] Chr5:90151630 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5356A>T (p.Lys1786Ter) |
single nucleotide variant |
not provided [RCV003543579] |
Chr5:90676122 [GRCh38] Chr5:89971939 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.15393A>G (p.Ala5131=) |
single nucleotide variant |
not provided [RCV003875210] |
Chr5:90810653 [GRCh38] Chr5:90106470 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5443+16C>A |
single nucleotide variant |
not provided [RCV003686155] |
Chr5:90676225 [GRCh38] Chr5:89972042 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11518G>T (p.Glu3840Ter) |
single nucleotide variant |
not provided [RCV003686341] |
Chr5:90755123 [GRCh38] Chr5:90050940 [GRCh37] Chr5:5q14.3 |
pathogenic |
GRCh37/hg19 5q14.3(chr5:89998097-90122803)x1 |
copy number loss |
not provided [RCV003485470] |
Chr5:89998097..90122803 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11941-22CCTT[2] |
microsatellite |
not provided [RCV003569715] |
Chr5:90759387..90759390 [GRCh38] Chr5:90055204..90055207 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13751AAGGAG[3] (p.Gly4587_Gly4588insGluGly) |
microsatellite |
not specified [RCV003479993] |
Chr5:90788163..90788164 [GRCh38] Chr5:90083980..90083981 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.2367+19T>C |
single nucleotide variant |
not provided [RCV003569026] |
Chr5:90642781 [GRCh38] Chr5:89938598 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16814G>T (p.Gly5605Val) |
single nucleotide variant |
ADGRV1-related condition [RCV003408513] |
Chr5:90840780 [GRCh38] Chr5:90136597 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.830A>G (p.His277Arg) |
single nucleotide variant |
ADGRV1-related condition [RCV003421012] |
Chr5:90627368 [GRCh38] Chr5:89923185 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18623_18624+1del |
microsatellite |
ADGRV1-related condition [RCV003422518] |
Chr5:91150215..91150217 [GRCh38] Chr5:90446032..90446034 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18634G>T (p.Asp6212Tyr) |
single nucleotide variant |
not provided [RCV003481765] |
Chr5:91153230 [GRCh38] Chr5:90449047 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4399G>A (p.Gly1467Arg) |
single nucleotide variant |
not provided [RCV003481761] |
Chr5:90657925 [GRCh38] Chr5:89953742 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.6014A>G (p.Lys2005Arg) |
single nucleotide variant |
not provided [RCV003481763] |
Chr5:90683935 [GRCh38] Chr5:89979752 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.227del (p.Gly76fs) |
deletion |
Usher syndrome [RCV003389551] |
Chr5:90617822 [GRCh38] Chr5:89913639 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.2812C>T (p.Gln938Ter) |
single nucleotide variant |
Usher syndrome [RCV003389534] |
Chr5:90644783 [GRCh38] Chr5:89940600 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.11692A>G (p.Ile3898Val) |
single nucleotide variant |
not provided [RCV003429704] |
Chr5:90756565 [GRCh38] Chr5:90052382 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11938C>T (p.Gln3980Ter) |
single nucleotide variant |
Usher syndrome [RCV003389544] |
Chr5:90757159 [GRCh38] Chr5:90052976 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.9439C>T (p.Arg3147Ter) |
single nucleotide variant |
Usher syndrome [RCV003389550] |
Chr5:90716721 [GRCh38] Chr5:90012538 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.14329C>T (p.Gln4777Ter) |
single nucleotide variant |
Usher syndrome [RCV003389554] |
Chr5:90791158 [GRCh38] Chr5:90086975 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.425dup (p.Asn142fs) |
duplication |
not provided [RCV003480430] |
Chr5:90619151..90619152 [GRCh38] Chr5:89914968..89914969 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.10939A>C (p.Asn3647His) |
single nucleotide variant |
not provided [RCV003429703] |
Chr5:90745760 [GRCh38] Chr5:90041577 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13433G>T (p.Ser4478Ile) |
single nucleotide variant |
ADGRV1-related condition [RCV003427758] |
Chr5:90783325 [GRCh38] Chr5:90079142 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.361C>A (p.Pro121Thr) |
single nucleotide variant |
not provided [RCV003429702] |
Chr5:90619089 [GRCh38] Chr5:89914906 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13964C>T (p.Ser4655Leu) |
single nucleotide variant |
not provided [RCV003429705] |
Chr5:90789772 [GRCh38] Chr5:90085589 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.15301G>A (p.Gly5101Arg) |
single nucleotide variant |
not provided [RCV003429706] |
Chr5:90810561 [GRCh38] Chr5:90106378 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.3600T>C (p.Asn1200=) |
single nucleotide variant |
not provided [RCV003428554] |
Chr5:90652529 [GRCh38] Chr5:89948346 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4205C>T (p.Thr1402Ile) |
single nucleotide variant |
Febrile seizures, familial, 4 [RCV003388698] |
Chr5:90653779 [GRCh38] Chr5:89949596 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.4975G>T (p.Glu1659Ter) |
single nucleotide variant |
ADGRV1-related condition [RCV003405836] |
Chr5:90674099 [GRCh38] Chr5:89969916 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.5311C>T (p.Gln1771Ter) |
single nucleotide variant |
ADGRV1-related condition [RCV003402287] |
Chr5:90675443 [GRCh38] Chr5:89971260 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.1278T>G (p.His426Gln) |
single nucleotide variant |
not provided [RCV003443990] |
Chr5:90628601 [GRCh38] Chr5:89924418 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.13607del (p.Leu4536fs) |
deletion |
ADGRV1-related condition [RCV003410870] |
Chr5:90784008 [GRCh38] Chr5:90079825 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.16078+1G>A |
single nucleotide variant |
ADGRV1-related condition [RCV003400103] |
Chr5:90811339 [GRCh38] Chr5:90107156 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.3601G>T (p.Glu1201Ter) |
single nucleotide variant |
ADGRV1-related condition [RCV003400168] |
Chr5:90652530 [GRCh38] Chr5:89948347 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.4793_4794del (p.Arg1598fs) |
microsatellite |
ADGRV1-related condition [RCV003399897] |
Chr5:90672582..90672583 [GRCh38] Chr5:89968399..89968400 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.16979_16980del (p.Thr5660fs) |
microsatellite |
ADGRV1-related condition [RCV003400053] |
Chr5:90840942..90840943 [GRCh38] Chr5:90136759..90136760 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.16676T>A (p.Phe5559Tyr) |
single nucleotide variant |
ADGRV1-related condition [RCV003400205] |
Chr5:90840642 [GRCh38] Chr5:90136459 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11651del (p.Phe3884fs) |
deletion |
ADGRV1-related condition [RCV003391347] |
Chr5:90756523 [GRCh38] Chr5:90052340 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.8028G>A (p.Val2676=) |
single nucleotide variant |
not provided [RCV003428555] |
Chr5:90697019 [GRCh38] Chr5:89992836 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3642C>G (p.Ser1214=) |
single nucleotide variant |
not provided [RCV003659773] |
Chr5:90653216 [GRCh38] Chr5:89949033 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5997A>G (p.Leu1999=) |
single nucleotide variant |
not provided [RCV003544261] |
Chr5:90683918 [GRCh38] Chr5:89979735 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5362A>G (p.Ile1788Val) |
single nucleotide variant |
not provided [RCV003659902] |
Chr5:90676128 [GRCh38] Chr5:89971945 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9228A>G (p.Leu3076=) |
single nucleotide variant |
not provided [RCV003662620] |
Chr5:90716510 [GRCh38] Chr5:90012327 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6447T>A (p.Asp2149Glu) |
single nucleotide variant |
not provided [RCV003714466] |
Chr5:90685952 [GRCh38] Chr5:89981769 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15597T>C (p.Pro5199=) |
single nucleotide variant |
not provided [RCV003715838] |
Chr5:90810857 [GRCh38] Chr5:90106674 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12286-12C>T |
single nucleotide variant |
not provided [RCV003715880] |
Chr5:90774174 [GRCh38] Chr5:90069991 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3399A>G (p.Gly1133=) |
single nucleotide variant |
not provided [RCV003660035] |
Chr5:90651713 [GRCh38] Chr5:89947530 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1238+16A>G |
single nucleotide variant |
not provided [RCV003714609] |
Chr5:90627792 [GRCh38] Chr5:89923609 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14662-20T>A |
single nucleotide variant |
not provided [RCV003575354] |
Chr5:90805264 [GRCh38] Chr5:90101081 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3500dup (p.Glu1168fs) |
duplication |
not provided [RCV003547319] |
Chr5:90652428..90652429 [GRCh38] Chr5:89948245..89948246 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.9748+14C>A |
single nucleotide variant |
not provided [RCV003545974] |
Chr5:90721073 [GRCh38] Chr5:90016890 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18030T>C (p.Tyr6010=) |
single nucleotide variant |
not provided [RCV003660237] |
Chr5:90985400 [GRCh38] Chr5:90281217 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4929+19G>A |
single nucleotide variant |
not provided [RCV003716161] |
Chr5:90672741 [GRCh38] Chr5:89968558 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17595-4C>A |
single nucleotide variant |
not provided [RCV003544825] |
Chr5:90855737 [GRCh38] Chr5:90151554 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10770-7A>G |
single nucleotide variant |
not provided [RCV003546250] |
Chr5:90745584 [GRCh38] Chr5:90041401 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16369-15T>G |
single nucleotide variant |
not provided [RCV003546393] |
Chr5:90828929 [GRCh38] Chr5:90124746 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14310C>A (p.Arg4770=) |
single nucleotide variant |
not provided [RCV003546446] |
Chr5:90791139 [GRCh38] Chr5:90086956 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14892T>C (p.Phe4964=) |
single nucleotide variant |
not provided [RCV003713985] |
Chr5:90807657 [GRCh38] Chr5:90103474 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4338del (p.Arg1447fs) |
deletion |
not provided [RCV003689268] |
Chr5:90653910 [GRCh38] Chr5:89949727 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.13549dup (p.Ile4517fs) |
duplication |
not provided [RCV003689270] |
Chr5:90783952..90783953 [GRCh38] Chr5:90079769..90079770 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.17950C>T (p.Gln5984Ter) |
single nucleotide variant |
not provided [RCV003687911] |
Chr5:90965508 [GRCh38] Chr5:90261325 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.6469G>C (p.Val2157Leu) |
single nucleotide variant |
not provided [RCV003573393] |
Chr5:90685974 [GRCh38] Chr5:89981791 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13466_13467del (p.Thr4489fs) |
deletion |
not provided [RCV003545432] |
Chr5:90783870..90783871 [GRCh38] Chr5:90079687..90079688 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16122C>T (p.Ser5374=) |
single nucleotide variant |
not provided [RCV003545433] |
Chr5:90815662 [GRCh38] Chr5:90111479 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11415T>C (p.Asp3805=) |
single nucleotide variant |
not provided [RCV003546960] |
Chr5:90755020 [GRCh38] Chr5:90050837 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4911T>C (p.Leu1637=) |
single nucleotide variant |
not provided [RCV003716697] |
Chr5:90672704 [GRCh38] Chr5:89968521 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9537A>C (p.Arg3179Ser) |
single nucleotide variant |
not provided [RCV003686703] |
Chr5:90720137 [GRCh38] Chr5:90015954 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10549+11T>C |
single nucleotide variant |
not provided [RCV003660405] |
Chr5:90729775 [GRCh38] Chr5:90025592 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3117T>C (p.Ala1039=) |
single nucleotide variant |
not provided [RCV003661214] |
Chr5:90647592 [GRCh38] Chr5:89943409 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2659C>T (p.His887Tyr) |
single nucleotide variant |
not provided [RCV003661831] |
Chr5:90643908 [GRCh38] Chr5:89939725 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.17664A>T (p.Ser5888=) |
single nucleotide variant |
not provided [RCV003547549] |
Chr5:90855810 [GRCh38] Chr5:90151627 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10050C>T (p.Phe3350=) |
single nucleotide variant |
not provided [RCV003663108] |
Chr5:90725229 [GRCh38] Chr5:90021046 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11890C>T (p.Leu3964=) |
single nucleotide variant |
not provided [RCV003660450] |
Chr5:90757111 [GRCh38] Chr5:90052928 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9653A>G (p.Asn3218Ser) |
single nucleotide variant |
not provided [RCV003661907] |
Chr5:90720964 [GRCh38] Chr5:90016781 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2768T>C (p.Phe923Ser) |
single nucleotide variant |
not provided [RCV003715707] |
Chr5:90644739 [GRCh38] Chr5:89940556 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17931del (p.His5978fs) |
deletion |
not provided [RCV003547505] |
Chr5:90965489 [GRCh38] Chr5:90261306 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.4929+7_4929+14dup |
duplication |
not provided [RCV003659818] |
Chr5:90672728..90672729 [GRCh38] Chr5:89968545..89968546 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4930-17G>A |
single nucleotide variant |
not provided [RCV003660484] |
Chr5:90674037 [GRCh38] Chr5:89969854 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18138C>T (p.Leu6046=) |
single nucleotide variant |
not provided [RCV003688140] |
Chr5:90985508 [GRCh38] Chr5:90281325 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16544T>C (p.Leu5515Ser) |
single nucleotide variant |
not provided [RCV003661966] |
Chr5:90829119 [GRCh38] Chr5:90124936 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.4752+10G>C |
single nucleotide variant |
not provided [RCV003546989] |
Chr5:90658288 [GRCh38] Chr5:89954105 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3357C>T (p.Gly1119=) |
single nucleotide variant |
not provided [RCV003662588] |
Chr5:90651671 [GRCh38] Chr5:89947488 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10584T>A (p.Ala3528=) |
single nucleotide variant |
not provided [RCV003716292] |
Chr5:90745080 [GRCh38] Chr5:90040897 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11304G>A (p.Leu3768=) |
single nucleotide variant |
not provided [RCV003659862] |
Chr5:90753756 [GRCh38] Chr5:90049573 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1839+9A>G |
single nucleotide variant |
not provided [RCV003661985] |
Chr5:90629548 [GRCh38] Chr5:89925365 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12906C>A (p.Tyr4302Ter) |
single nucleotide variant |
not provided [RCV003575735] |
Chr5:90778921 [GRCh38] Chr5:90074738 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.7155G>A (p.Leu2385=) |
single nucleotide variant |
not provided [RCV003659904] |
Chr5:90693911 [GRCh38] Chr5:89989728 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18558T>C (p.Ser6186=) |
single nucleotide variant |
not provided [RCV003687534] |
Chr5:91150155 [GRCh38] Chr5:90445972 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7069A>T (p.Met2357Leu) |
single nucleotide variant |
not provided [RCV003714485] |
Chr5:90692722 [GRCh38] Chr5:89988539 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13653+16C>T |
single nucleotide variant |
not provided [RCV003547068] |
Chr5:90784073 [GRCh38] Chr5:90079890 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6059A>T (p.Asp2020Val) |
single nucleotide variant |
not provided [RCV003662705] |
Chr5:90683980 [GRCh38] Chr5:89979797 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14249_14250del (p.Thr4750fs) |
microsatellite |
not provided [RCV003716307] |
Chr5:90791076..90791077 [GRCh38] Chr5:90086893..90086894 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.9300A>G (p.Val3100=) |
single nucleotide variant |
not provided [RCV003687583] |
Chr5:90716582 [GRCh38] Chr5:90012399 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6369A>G (p.Ser2123=) |
single nucleotide variant |
not provided [RCV003714473] |
Chr5:90685874 [GRCh38] Chr5:89981691 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1818T>C (p.Asn606=) |
single nucleotide variant |
not provided [RCV003663248] |
Chr5:90629518 [GRCh38] Chr5:89925335 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2367+8del |
deletion |
not provided [RCV003572381] |
Chr5:90642770 [GRCh38] Chr5:89938587 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12226_12227delinsGTAGATGAGAGTAGATG (p.Ile4076delinsValAspGluSerArgTer) |
indel |
not provided [RCV003877789] |
Chr5:90763410..90763411 [GRCh38] Chr5:90059227..90059228 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.5111-6C>T |
single nucleotide variant |
not provided [RCV003574499] |
Chr5:90675237 [GRCh38] Chr5:89971054 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4709A>G (p.Asn1570Ser) |
single nucleotide variant |
not provided [RCV003575822] |
Chr5:90658235 [GRCh38] Chr5:89954052 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10320T>C (p.Ser3440=) |
single nucleotide variant |
not provided [RCV003572469] |
Chr5:90728827 [GRCh38] Chr5:90024644 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.513C>T (p.Leu171=) |
single nucleotide variant |
not provided [RCV003687701] |
Chr5:90622656 [GRCh38] Chr5:89918473 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.474T>C (p.Ser158=) |
single nucleotide variant |
not provided [RCV003714554] |
Chr5:90622617 [GRCh38] Chr5:89918434 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4753-12A>C |
single nucleotide variant |
not provided [RCV003574546] |
Chr5:90672534 [GRCh38] Chr5:89968351 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17974-10T>C |
single nucleotide variant |
not provided [RCV003716434] |
Chr5:90985334 [GRCh38] Chr5:90281151 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7890A>G (p.Thr2630=) |
single nucleotide variant |
not provided [RCV003572421] |
Chr5:90694646 [GRCh38] Chr5:89990463 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8014dup (p.Ile2672fs) |
duplication |
not provided [RCV003573191] |
Chr5:90697004..90697005 [GRCh38] Chr5:89992821..89992822 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.18885G>A (p.Glu6295=) |
single nucleotide variant |
not provided [RCV003661438] |
Chr5:91163864 [GRCh38] Chr5:90459681 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1629A>G (p.Arg543=) |
single nucleotide variant |
not provided [RCV003715850] |
Chr5:90629329 [GRCh38] Chr5:89925146 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9984A>G (p.Glu3328=) |
single nucleotide variant |
not provided [RCV003879186] |
Chr5:90725163 [GRCh38] Chr5:90020980 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.651C>T (p.Asn217=) |
single nucleotide variant |
not provided [RCV003716470] |
Chr5:90625222 [GRCh38] Chr5:89921039 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12404-20C>T |
single nucleotide variant |
not provided [RCV003544517] |
Chr5:90776433 [GRCh38] Chr5:90072250 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12930A>G (p.Glu4310=) |
single nucleotide variant |
not provided [RCV003661595] |
Chr5:90778945 [GRCh38] Chr5:90074762 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3346G>C (p.Asp1116His) |
single nucleotide variant |
not provided [RCV003662293] |
Chr5:90651660 [GRCh38] Chr5:89947477 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16695A>C (p.Thr5565=) |
single nucleotide variant |
not provided [RCV003571980] |
Chr5:90840661 [GRCh38] Chr5:90136478 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4491A>G (p.Glu1497=) |
single nucleotide variant |
not provided [RCV003544559] |
Chr5:90658017 [GRCh38] Chr5:89953834 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13433+20T>G |
single nucleotide variant |
not provided [RCV003689318] |
Chr5:90783345 [GRCh38] Chr5:90079162 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16061C>T (p.Ala5354Val) |
single nucleotide variant |
not provided [RCV003660232] |
Chr5:90811321 [GRCh38] Chr5:90107138 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.4758A>G (p.Ala1586=) |
single nucleotide variant |
not provided [RCV003544638] |
Chr5:90672551 [GRCh38] Chr5:89968368 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1343A>G (p.Asp448Gly) |
single nucleotide variant |
not provided [RCV003544579] |
Chr5:90628666 [GRCh38] Chr5:89924483 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17376T>C (p.Cys5792=) |
single nucleotide variant |
not provided [RCV003716604] |
Chr5:90853455 [GRCh38] Chr5:90149272 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3694_3697del (p.Val1232fs) |
deletion |
not provided [RCV003572712] |
Chr5:90653268..90653271 [GRCh38] Chr5:89949085..89949088 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.2871T>C (p.Asn957=) |
single nucleotide variant |
not provided [RCV003574045] |
Chr5:90644842 [GRCh38] Chr5:89940659 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16139del (p.Leu5380fs) |
deletion |
not provided [RCV003544019] |
Chr5:90815679 [GRCh38] Chr5:90111496 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.6707-1G>T |
single nucleotide variant |
not provided [RCV003572088] |
Chr5:90690796 [GRCh38] Chr5:89986613 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.13485G>T (p.Ala4495=) |
single nucleotide variant |
not provided [RCV003572758] |
Chr5:90783889 [GRCh38] Chr5:90079706 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.747G>A (p.Arg249=) |
single nucleotide variant |
not provided [RCV003687301] |
Chr5:90627285 [GRCh38] Chr5:89923102 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11378-8T>G |
single nucleotide variant |
not provided [RCV003661714] |
Chr5:90754975 [GRCh38] Chr5:90050792 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12829C>A (p.Arg4277=) |
single nucleotide variant |
not provided [RCV003546094] |
Chr5:90778589 [GRCh38] Chr5:90074406 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3849G>C (p.Leu1283=) |
single nucleotide variant |
not provided [RCV003689457] |
Chr5:90653423 [GRCh38] Chr5:89949240 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5983C>T (p.Gln1995Ter) |
single nucleotide variant |
not provided [RCV003689482] |
Chr5:90683904 [GRCh38] Chr5:89979721 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.18311-11T>A |
single nucleotide variant |
not provided [RCV003575562] |
Chr5:91102208 [GRCh38] Chr5:90398025 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16552C>T (p.Leu5518=) |
single nucleotide variant |
not provided [RCV003690513] |
Chr5:90829127 [GRCh38] Chr5:90124944 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6553G>C (p.Val2185Leu) |
single nucleotide variant |
not provided [RCV003661141] |
Chr5:90689923 [GRCh38] Chr5:89985740 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.11733A>C (p.Gly3911=) |
single nucleotide variant |
not provided [RCV003714951] |
Chr5:90756606 [GRCh38] Chr5:90052423 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16196+11A>G |
single nucleotide variant |
not provided [RCV003662513] |
Chr5:90815747 [GRCh38] Chr5:90111564 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16167G>A (p.Leu5389=) |
single nucleotide variant |
not provided [RCV003546957] |
Chr5:90815707 [GRCh38] Chr5:90111524 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.14682T>C (p.Ala4894=) |
single nucleotide variant |
not provided [RCV003547525] |
Chr5:90805304 [GRCh38] Chr5:90101121 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2139T>A (p.Ser713=) |
single nucleotide variant |
not provided [RCV003690557] |
Chr5:90637847 [GRCh38] Chr5:89933664 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13941A>G (p.Glu4647=) |
single nucleotide variant |
not provided [RCV003690572] |
Chr5:90789749 [GRCh38] Chr5:90085566 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16197-15G>A |
single nucleotide variant |
not provided [RCV003660725] |
Chr5:90823410 [GRCh38] Chr5:90119227 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16170C>T (p.His5390=) |
single nucleotide variant |
not provided [RCV003687711] |
Chr5:90815710 [GRCh38] Chr5:90111527 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17405_17408del (p.Ser5802fs) |
deletion |
not provided [RCV003688428] |
Chr5:90853482..90853485 [GRCh38] Chr5:90149299..90149302 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.2898+19T>C |
single nucleotide variant |
not provided [RCV003573853] |
Chr5:90644888 [GRCh38] Chr5:89940705 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.126T>G (p.Val42=) |
single nucleotide variant |
not provided [RCV003715400] |
Chr5:90614938 [GRCh38] Chr5:89910755 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8824+21_8824+24del |
microsatellite |
not provided [RCV003715438] |
Chr5:90708924..90708927 [GRCh38] Chr5:90004741..90004744 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15775G>A (p.Val5259Ile) |
single nucleotide variant |
not provided [RCV003572384] |
Chr5:90811035 [GRCh38] Chr5:90106852 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12357C>T (p.Thr4119=) |
single nucleotide variant |
not provided [RCV003659977] |
Chr5:90774257 [GRCh38] Chr5:90070074 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8156-1G>A |
single nucleotide variant |
not provided [RCV003545139] |
Chr5:90703664 [GRCh38] Chr5:89999481 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.10702C>G (p.Leu3568Val) |
single nucleotide variant |
not provided [RCV003661600] |
Chr5:90745198 [GRCh38] Chr5:90041015 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10770-4G>T |
single nucleotide variant |
not provided [RCV003714036] |
Chr5:90745587 [GRCh38] Chr5:90041404 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11670T>C (p.Ser3890=) |
single nucleotide variant |
not provided [RCV003545973] |
Chr5:90756543 [GRCh38] Chr5:90052360 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13654-4G>T |
single nucleotide variant |
not provided [RCV003662292] |
Chr5:90788067 [GRCh38] Chr5:90083884 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11961C>T (p.Ile3987=) |
single nucleotide variant |
not provided [RCV003663473] |
Chr5:90759429 [GRCh38] Chr5:90055246 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8196T>C (p.Gly2732=) |
single nucleotide variant |
not provided [RCV003572445] |
Chr5:90703705 [GRCh38] Chr5:89999522 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18153-20T>G |
single nucleotide variant |
not provided [RCV003662425] |
Chr5:91072427 [GRCh38] Chr5:90368244 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17838dup (p.Ala5947fs) |
duplication |
not provided [RCV003689981] |
Chr5:90863838..90863839 [GRCh38] Chr5:90159655..90159656 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.405G>C (p.Val135=) |
single nucleotide variant |
not provided [RCV003712824] |
Chr5:90619133 [GRCh38] Chr5:89914950 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11940+7C>T |
single nucleotide variant |
not provided [RCV003713434] |
Chr5:90757168 [GRCh38] Chr5:90052985 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18060A>G (p.Leu6020=) |
single nucleotide variant |
not provided [RCV003661744] |
Chr5:90985430 [GRCh38] Chr5:90281247 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10495G>A (p.Val3499Ile) |
single nucleotide variant |
not provided [RCV003688648] |
Chr5:90729710 [GRCh38] Chr5:90025527 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7586A>G (p.Asp2529Gly) |
single nucleotide variant |
not provided [RCV003824528] |
Chr5:90694342 [GRCh38] Chr5:89990159 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.9333G>C (p.Leu3111Phe) |
single nucleotide variant |
not provided [RCV003712889] |
Chr5:90716615 [GRCh38] Chr5:90012432 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.10161+7T>C |
single nucleotide variant |
not provided [RCV003572701] |
Chr5:90725663 [GRCh38] Chr5:90021480 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12622C>T (p.Leu4208=) |
single nucleotide variant |
not provided [RCV003572708] |
Chr5:90777999 [GRCh38] Chr5:90073816 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17340C>T (p.Val5780=) |
single nucleotide variant |
not provided [RCV003687937] |
Chr5:90853419 [GRCh38] Chr5:90149236 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2904A>C (p.Pro968=) |
single nucleotide variant |
not provided [RCV003574109] |
Chr5:90645973 [GRCh38] Chr5:89941790 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6417T>C (p.Asn2139=) |
single nucleotide variant |
not provided [RCV003662411] |
Chr5:90685922 [GRCh38] Chr5:89981739 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1771C>G (p.Gln591Glu) |
single nucleotide variant |
not provided [RCV003715530] |
Chr5:90629471 [GRCh38] Chr5:89925288 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4077T>A (p.Ala1359=) |
single nucleotide variant |
not provided [RCV003689510] |
Chr5:90653651 [GRCh38] Chr5:89949468 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8155+16dup |
duplication |
not provided [RCV003712991] |
Chr5:90697155..90697156 [GRCh38] Chr5:89992972..89992973 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.8178G>C (p.Val2726=) |
single nucleotide variant |
not provided [RCV003659815] |
Chr5:90703687 [GRCh38] Chr5:89999504 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18803-7G>A |
single nucleotide variant |
not provided [RCV003713513] |
Chr5:91163775 [GRCh38] Chr5:90459592 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.672+17T>A |
single nucleotide variant |
not provided [RCV003687986] |
Chr5:90625260 [GRCh38] Chr5:89921077 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13434-10del |
deletion |
not provided [RCV003661832] |
Chr5:90783827 [GRCh38] Chr5:90079644 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5022G>A (p.Lys1674=) |
single nucleotide variant |
not provided [RCV003689544] |
Chr5:90674146 [GRCh38] Chr5:89969963 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6318G>T (p.Ala2106=) |
single nucleotide variant |
not provided [RCV003824576] |
Chr5:90685823 [GRCh38] Chr5:89981640 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5525-13C>T |
single nucleotide variant |
not provided [RCV003690539] |
Chr5:90681302 [GRCh38] Chr5:89977119 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2859A>G (p.Glu953=) |
single nucleotide variant |
not provided [RCV003690591] |
Chr5:90644830 [GRCh38] Chr5:89940647 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3679C>T (p.Gln1227Ter) |
single nucleotide variant |
not provided [RCV003572811] |
Chr5:90653253 [GRCh38] Chr5:89949070 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16212C>G (p.Val5404=) |
single nucleotide variant |
not provided [RCV003573503] |
Chr5:90823440 [GRCh38] Chr5:90119257 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10176T>C (p.Asn3392=) |
single nucleotide variant |
not provided [RCV003545451] |
Chr5:90728683 [GRCh38] Chr5:90024500 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16721G>A (p.Ser5574Asn) |
single nucleotide variant |
not provided [RCV003714311] |
Chr5:90840687 [GRCh38] Chr5:90136504 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3925C>G (p.Pro1309Ala) |
single nucleotide variant |
not provided [RCV003686891] |
Chr5:90653499 [GRCh38] Chr5:89949316 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.18802+12C>G |
single nucleotide variant |
not provided [RCV003574316] |
Chr5:91153410 [GRCh38] Chr5:90449227 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6888T>G (p.Pro2296=) |
single nucleotide variant |
not provided [RCV003547064] |
Chr5:90690978 [GRCh38] Chr5:89986795 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2367+9G>T |
single nucleotide variant |
not provided [RCV003572382] |
Chr5:90642771 [GRCh38] Chr5:89938588 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.114A>G (p.Gln38=) |
single nucleotide variant |
not provided [RCV003688130] |
Chr5:90614926 [GRCh38] Chr5:89910743 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16443del (p.Arg5482fs) |
deletion |
not provided [RCV003690034] |
Chr5:90829017 [GRCh38] Chr5:90124834 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.13032A>G (p.Glu4344=) |
single nucleotide variant |
not provided [RCV003572519] |
Chr5:90779047 [GRCh38] Chr5:90074864 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9184G>A (p.Ala3062Thr) |
single nucleotide variant |
not provided [RCV003687052] |
Chr5:90712428 [GRCh38] Chr5:90008245 [GRCh37] Chr5:5q14.3 |
uncertain significance |
NM_032119.4(ADGRV1):c.7917T>A (p.Gly2639=) |
single nucleotide variant |
not provided [RCV003688174] |
Chr5:90694673 [GRCh38] Chr5:89990490 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18102A>G (p.Gly6034=) |
single nucleotide variant |
not provided [RCV003662025] |
Chr5:90985472 [GRCh38] Chr5:90281289 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2367+21del |
deletion |
not provided [RCV003660173] |
Chr5:90642782 [GRCh38] Chr5:89938599 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1239-16T>C |
single nucleotide variant |
not provided [RCV003574425] |
Chr5:90628546 [GRCh38] Chr5:89924363 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10974+15G>A |
single nucleotide variant |
not provided [RCV003662050] |
Chr5:90745810 [GRCh38] Chr5:90041627 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10549+1G>A |
single nucleotide variant |
not provided [RCV003572012] |
Chr5:90729765 [GRCh38] Chr5:90025582 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.2631T>C (p.Asn877=) |
single nucleotide variant |
not provided [RCV003714442] |
Chr5:90643880 [GRCh38] Chr5:89939697 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8373T>C (p.Asp2791=) |
single nucleotide variant |
not provided [RCV003662747] |
Chr5:90704475 [GRCh38] Chr5:90000292 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10716T>C (p.His3572=) |
single nucleotide variant |
not provided [RCV003575305] |
Chr5:90745212 [GRCh38] Chr5:90041029 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1083G>A (p.Met361Ile) |
single nucleotide variant |
not provided [RCV003572115] |
Chr5:90627621 [GRCh38] Chr5:89923438 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5814C>G (p.Asp1938Glu) |
single nucleotide variant |
not provided [RCV003713831] |
Chr5:90683735 [GRCh38] Chr5:89979552 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6825C>T (p.Thr2275=) |
single nucleotide variant |
not provided [RCV003573082] |
Chr5:90690915 [GRCh38] Chr5:89986732 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8359G>C (p.Val2787Leu) |
single nucleotide variant |
not provided [RCV003545741] |
Chr5:90704461 [GRCh38] Chr5:90000278 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.252A>T (p.Ala84=) |
single nucleotide variant |
not provided [RCV003663310] |
Chr5:90617848 [GRCh38] Chr5:89913665 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18625-18C>A |
single nucleotide variant |
not provided [RCV003544033] |
Chr5:91153203 [GRCh38] Chr5:90449020 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16176T>C (p.Ile5392=) |
single nucleotide variant |
not provided [RCV003877800] |
Chr5:90815716 [GRCh38] Chr5:90111533 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6306A>G (p.Val2102=) |
single nucleotide variant |
not provided [RCV003689807] |
Chr5:90685811 [GRCh38] Chr5:89981628 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13965A>G (p.Ser4655=) |
single nucleotide variant |
not provided [RCV003544167] |
Chr5:90789773 [GRCh38] Chr5:90085590 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12162A>G (p.Ser4054=) |
single nucleotide variant |
not provided [RCV003659821] |
Chr5:90763346 [GRCh38] Chr5:90059163 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11325C>T (p.Gly3775=) |
single nucleotide variant |
not provided [RCV003574539] |
Chr5:90753777 [GRCh38] Chr5:90049594 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.15210T>G (p.Thr5070=) |
single nucleotide variant |
not provided [RCV003715121] |
Chr5:90810470 [GRCh38] Chr5:90106287 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1382G>A (p.Gly461Glu) |
single nucleotide variant |
not provided [RCV003659985] |
Chr5:90628705 [GRCh38] Chr5:89924522 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13926T>C (p.Val4642=) |
single nucleotide variant |
not provided [RCV003713256] |
Chr5:90789734 [GRCh38] Chr5:90085551 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12404-5T>C |
single nucleotide variant |
not provided [RCV003877816] |
Chr5:90776448 [GRCh38] Chr5:90072265 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18803-8T>G |
single nucleotide variant |
not provided [RCV003575781] |
Chr5:91163774 [GRCh38] Chr5:90459591 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11530A>G (p.Ile3844Val) |
single nucleotide variant |
not provided [RCV003575852] |
Chr5:90755135 [GRCh38] Chr5:90050952 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9395A>G (p.Asp3132Gly) |
single nucleotide variant |
not provided [RCV003572300] |
Chr5:90716677 [GRCh38] Chr5:90012494 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4476T>C (p.Leu1492=) |
single nucleotide variant |
not provided [RCV003687057] |
Chr5:90658002 [GRCh38] Chr5:89953819 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13401T>C (p.Phe4467=) |
single nucleotide variant |
not provided [RCV003572552] |
Chr5:90783293 [GRCh38] Chr5:90079110 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17851A>C (p.Thr5951Pro) |
single nucleotide variant |
not provided [RCV003689901] |
Chr5:90863852 [GRCh38] Chr5:90159669 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16368+7A>T |
single nucleotide variant |
not provided [RCV003547775] |
Chr5:90823603 [GRCh38] Chr5:90119420 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7896T>G (p.Thr2632=) |
single nucleotide variant |
not provided [RCV003716354] |
Chr5:90694652 [GRCh38] Chr5:89990469 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1381G>A (p.Gly461Arg) |
single nucleotide variant |
not provided [RCV003659957] |
Chr5:90628704 [GRCh38] Chr5:89924521 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13221T>G (p.Thr4407=) |
single nucleotide variant |
not provided [RCV003686882] |
Chr5:90781568 [GRCh38] Chr5:90077385 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2898+12A>G |
single nucleotide variant |
not provided [RCV003661339] |
Chr5:90644881 [GRCh38] Chr5:89940698 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16734T>C (p.Asp5578=) |
single nucleotide variant |
not provided [RCV003661302] |
Chr5:90840700 [GRCh38] Chr5:90136517 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10769+17T>A |
single nucleotide variant |
not provided [RCV003547177] |
Chr5:90745282 [GRCh38] Chr5:90041099 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18007G>C (p.Asp6003His) |
single nucleotide variant |
not provided [RCV003687074] |
Chr5:90985377 [GRCh38] Chr5:90281194 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8592G>C (p.Thr2864=) |
single nucleotide variant |
not provided [RCV003713405] |
Chr5:90706256 [GRCh38] Chr5:90002073 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13701A>C (p.Pro4567=) |
single nucleotide variant |
not provided [RCV003714783] |
Chr5:90788118 [GRCh38] Chr5:90083935 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7293del (p.Val2432fs) |
deletion |
not provided [RCV003575493] |
Chr5:90694048 [GRCh38] Chr5:89989865 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1632A>G (p.Leu544=) |
single nucleotide variant |
not provided [RCV003660299] |
Chr5:90629332 [GRCh38] Chr5:89925149 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13734G>A (p.Gly4578=) |
single nucleotide variant |
not provided [RCV003687269] |
Chr5:90788151 [GRCh38] Chr5:90083968 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13170A>G (p.Ile4390Met) |
single nucleotide variant |
not provided [RCV003713254] |
Chr5:90781517 [GRCh38] Chr5:90077334 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18636C>T (p.Asp6212=) |
single nucleotide variant |
not provided [RCV003546413] |
Chr5:91153232 [GRCh38] Chr5:90449049 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6297G>T (p.Gly2099=) |
single nucleotide variant |
not provided [RCV003574527] |
Chr5:90685802 [GRCh38] Chr5:89981619 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7945+13del |
deletion |
not provided [RCV003716138] |
Chr5:90694713 [GRCh38] Chr5:89990530 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2966del (p.Asn989fs) |
deletion |
not provided [RCV003690008] |
Chr5:90646033 [GRCh38] Chr5:89941850 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.14661+8G>T |
single nucleotide variant |
not provided [RCV003660357] |
Chr5:90802890 [GRCh38] Chr5:90098707 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1635A>G (p.Gly545=) |
single nucleotide variant |
not provided [RCV003688327] |
Chr5:90629335 [GRCh38] Chr5:89925152 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4753-17T>A |
single nucleotide variant |
not provided [RCV003574545] |
Chr5:90672529 [GRCh38] Chr5:89968346 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6741T>C (p.Pro2247=) |
single nucleotide variant |
not provided [RCV003715911] |
Chr5:90690831 [GRCh38] Chr5:89986648 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.12576G>T (p.Arg4192Ser) |
single nucleotide variant |
not provided [RCV003575356] |
Chr5:90777953 [GRCh38] Chr5:90073770 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16125G>C (p.Gln5375His) |
single nucleotide variant |
not provided [RCV003662207] |
Chr5:90815665 [GRCh38] Chr5:90111482 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8049A>G (p.Arg2683=) |
single nucleotide variant |
not provided [RCV003572862] |
Chr5:90697040 [GRCh38] Chr5:89992857 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7224G>C (p.Leu2408=) |
single nucleotide variant |
not provided [RCV003660410] |
Chr5:90693980 [GRCh38] Chr5:89989797 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3469T>C (p.Phe1157Leu) |
single nucleotide variant |
not provided [RCV003546192] |
Chr5:90652398 [GRCh38] Chr5:89948215 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.559-9T>C |
single nucleotide variant |
not provided [RCV003688797] |
Chr5:90625121 [GRCh38] Chr5:89920938 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18015C>T (p.His6005=) |
single nucleotide variant |
not provided [RCV003690035] |
Chr5:90985385 [GRCh38] Chr5:90281202 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17697T>C (p.Thr5899=) |
single nucleotide variant |
not provided [RCV003690036] |
Chr5:90855843 [GRCh38] Chr5:90151660 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3873G>A (p.Glu1291=) |
single nucleotide variant |
not provided [RCV003713675] |
Chr5:90653447 [GRCh38] Chr5:89949264 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2932C>T (p.Leu978=) |
single nucleotide variant |
not provided [RCV003573039] |
Chr5:90646001 [GRCh38] Chr5:89941818 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11280A>T (p.Arg3760Ser) |
single nucleotide variant |
not provided [RCV003689158] |
Chr5:90753732 [GRCh38] Chr5:90049549 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6612A>G (p.Gln2204=) |
single nucleotide variant |
not provided [RCV003715999] |
Chr5:90689982 [GRCh38] Chr5:89985799 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.5111-16C>G |
single nucleotide variant |
not provided [RCV003660485] |
Chr5:90675227 [GRCh38] Chr5:89971044 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11949A>G (p.Ala3983=) |
single nucleotide variant |
not provided [RCV003716203] |
Chr5:90759417 [GRCh38] Chr5:90055234 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13818G>A (p.Glu4606=) |
single nucleotide variant |
not provided [RCV003547538] |
Chr5:90788235 [GRCh38] Chr5:90084052 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2240+16G>A |
single nucleotide variant |
not provided [RCV003660557] |
Chr5:90637964 [GRCh38] Chr5:89933781 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10395T>C (p.Ile3465=) |
single nucleotide variant |
not provided [RCV003714702] |
Chr5:90728902 [GRCh38] Chr5:90024719 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3634+16A>G |
single nucleotide variant |
not provided [RCV003715419] |
Chr5:90652579 [GRCh38] Chr5:89948396 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8904-13T>C |
single nucleotide variant |
not provided [RCV003715899] |
Chr5:90711171 [GRCh38] Chr5:90006988 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11607A>T (p.Gly3869=) |
single nucleotide variant |
not provided [RCV003573028] |
Chr5:90756480 [GRCh38] Chr5:90052297 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.461C>A (p.Ser154Ter) |
single nucleotide variant |
not provided [RCV003713794] |
Chr5:90622604 [GRCh38] Chr5:89918421 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.13869C>T (p.Ser4623=) |
single nucleotide variant |
not provided [RCV003572982] |
Chr5:90788286 [GRCh38] Chr5:90084103 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12121-17G>T |
single nucleotide variant |
not provided [RCV003824596] |
Chr5:90763288 [GRCh38] Chr5:90059105 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7146T>C (p.Phe2382=) |
single nucleotide variant |
not provided [RCV003716229] |
Chr5:90693902 [GRCh38] Chr5:89989719 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7674A>G (p.Pro2558=) |
single nucleotide variant |
not provided [RCV003688500] |
Chr5:90694430 [GRCh38] Chr5:89990247 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11280A>G (p.Arg3760=) |
single nucleotide variant |
not provided [RCV003573976] |
Chr5:90753732 [GRCh38] Chr5:90049549 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10299T>A (p.Leu3433=) |
single nucleotide variant |
not provided [RCV003716080] |
Chr5:90728806 [GRCh38] Chr5:90024623 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.9184+18A>G |
single nucleotide variant |
not provided [RCV003574528] |
Chr5:90712446 [GRCh38] Chr5:90008263 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.573A>G (p.Pro191=) |
single nucleotide variant |
not provided [RCV003690099] |
Chr5:90625144 [GRCh38] Chr5:89920961 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13434-9G>T |
single nucleotide variant |
not provided [RCV003544931] |
Chr5:90783829 [GRCh38] Chr5:90079646 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.900G>A (p.Glu300=) |
single nucleotide variant |
not provided [RCV003573014] |
Chr5:90627438 [GRCh38] Chr5:89923255 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16612-15T>C |
single nucleotide variant |
not provided [RCV003574046] |
Chr5:90840563 [GRCh38] Chr5:90136380 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16079-18C>G |
single nucleotide variant |
not provided [RCV003715531] |
Chr5:90815601 [GRCh38] Chr5:90111418 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4403_4418del (p.Ala1468fs) |
deletion |
not provided [RCV003689959] |
Chr5:90657929..90657944 [GRCh38] Chr5:89953746..89953761 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.1487C>T (p.Ala496Val) |
single nucleotide variant |
not provided [RCV003715365] |
Chr5:90628810 [GRCh38] Chr5:89924627 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8454C>T (p.Ala2818=) |
single nucleotide variant |
not provided [RCV003690027] |
Chr5:90705467 [GRCh38] Chr5:90001284 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.453+17A>T |
single nucleotide variant |
not provided [RCV003543897] |
Chr5:90619198 [GRCh38] Chr5:89915015 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8156-9T>C |
single nucleotide variant |
not provided [RCV003687921] |
Chr5:90703656 [GRCh38] Chr5:89999473 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12850-4A>T |
single nucleotide variant |
not provided [RCV003661742] |
Chr5:90778861 [GRCh38] Chr5:90074678 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7047T>C (p.Tyr2349=) |
single nucleotide variant |
not provided [RCV003715499] |
Chr5:90692700 [GRCh38] Chr5:89988517 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7110T>C (p.Cys2370=) |
single nucleotide variant |
not provided [RCV003712793] |
Chr5:90692763 [GRCh38] Chr5:89988580 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13653+9A>G |
single nucleotide variant |
not provided [RCV003660752] |
Chr5:90784066 [GRCh38] Chr5:90079883 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.13894-5T>G |
single nucleotide variant |
not provided [RCV003662385] |
Chr5:90789697 [GRCh38] Chr5:90085514 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18802+12C>T |
single nucleotide variant |
not provided [RCV003686639] |
Chr5:91153410 [GRCh38] Chr5:90449227 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.3241A>G (p.Ile1081Val) |
single nucleotide variant |
not provided [RCV003661760] |
Chr5:90647716 [GRCh38] Chr5:89943533 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7045T>C (p.Tyr2349His) |
single nucleotide variant |
not provided [RCV003714900] |
Chr5:90692698 [GRCh38] Chr5:89988515 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16079-4del |
deletion |
not provided [RCV003546071] |
Chr5:90815609 [GRCh38] Chr5:90111426 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.5314-18C>T |
single nucleotide variant |
not provided [RCV003686623] |
Chr5:90676062 [GRCh38] Chr5:89971879 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12189C>T (p.Ser4063=) |
single nucleotide variant |
not provided [RCV003662516] |
Chr5:90763373 [GRCh38] Chr5:90059190 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.10437T>C (p.Asn3479=) |
single nucleotide variant |
not provided [RCV003546974] |
Chr5:90729652 [GRCh38] Chr5:90025469 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.1509+18C>T |
single nucleotide variant |
not provided [RCV003687990] |
Chr5:90628850 [GRCh38] Chr5:89924667 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2727C>A (p.Ile909=) |
single nucleotide variant |
not provided [RCV003690507] |
Chr5:90643976 [GRCh38] Chr5:89939793 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8730+12T>C |
single nucleotide variant |
not provided [RCV003713007] |
Chr5:90706406 [GRCh38] Chr5:90002223 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.281_282del (p.Arg94fs) |
deletion |
not provided [RCV003716351] |
Chr5:90617876..90617877 [GRCh38] Chr5:89913693..89913694 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.16923T>C (p.Asp5641=) |
single nucleotide variant |
not provided [RCV003686528] |
Chr5:90840889 [GRCh38] Chr5:90136706 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.11020G>A (p.Val3674Ile) |
single nucleotide variant |
not provided [RCV003712873] |
Chr5:90750596 [GRCh38] Chr5:90046413 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.4080G>A (p.Trp1360Ter) |
single nucleotide variant |
not provided [RCV003545345] |
Chr5:90653654 [GRCh38] Chr5:89949471 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.17866C>T (p.Leu5956=) |
single nucleotide variant |
not provided [RCV003573481] |
Chr5:90965424 [GRCh38] Chr5:90261241 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16299G>T (p.Val5433=) |
single nucleotide variant |
not provided [RCV003546977] |
Chr5:90823527 [GRCh38] Chr5:90119344 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.6564T>A (p.Tyr2188Ter) |
single nucleotide variant |
not provided [RCV003546980] |
Chr5:90689934 [GRCh38] Chr5:89985751 [GRCh37] Chr5:5q14.3 |
pathogenic |
NM_032119.4(ADGRV1):c.11580+20A>G |
single nucleotide variant |
not provided [RCV003688237] |
Chr5:90755205 [GRCh38] Chr5:90051022 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.7851A>G (p.Leu2617=) |
single nucleotide variant |
not provided [RCV003547700] |
Chr5:90694607 [GRCh38] Chr5:89990424 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.8259C>T (p.Asn2753=) |
single nucleotide variant |
not provided [RCV003690577] |
Chr5:90703768 [GRCh38] Chr5:89999585 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.18334T>C (p.Phe6112Leu) |
single nucleotide variant |
not provided [RCV003659952] |
Chr5:91102242 [GRCh38] Chr5:90398059 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.12528-17T>G |
single nucleotide variant |
not provided [RCV003660004] |
Chr5:90777888 [GRCh38] Chr5:90073705 [GRCh37] Chr5:5q14.3 |
likely pathogenic |
NM_032119.4(ADGRV1):c.8238T>C (p.Asn2746=) |
single nucleotide variant |
not provided [RCV003661167] |
Chr5:90703747 [GRCh38] Chr5:89999564 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2240+10del |
deletion |
not provided [RCV003545465] |
Chr5:90637956 [GRCh38] Chr5:89933773 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.17118T>C (p.Thr5706=) |
single nucleotide variant |
not provided [RCV003661304] |
Chr5:90848735 [GRCh38] Chr5:90144552 [GRCh37] Chr5:5q14.3 |
benign |
NM_032119.4(ADGRV1):c.144A>G (p.Thr48=) |
single nucleotide variant |
not provided [RCV003688199] |
Chr5:90614956 [GRCh38] Chr5:89910773 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.2241-19G>C |
single nucleotide variant |
not provided [RCV003662759] |
Chr5:90642617 [GRCh38] Chr5:89938434 [GRCh37] Chr5:5q14.3 |
likely benign |
NM_032119.4(ADGRV1):c.16354del (p.Leu5452fs) |
deletion |
not provided [RCV003689679] |
Chr5:90823582 [GRCh38] Chr5:90119399 [GRCh37] Chr5:5q14.3 |
pathogenic |