1 |
ADGRV1 |
NM_032119.4(ADGRV1):c.8713_8716dup (p.Ile2906fs) |
Duplication |
Pathogenic |
6799 |
rs796051863 |
5:90002193-90002194 |
5:90706376-90706377 |
2 |
ADGRV1 |
NM_032119.4(ADGRV1):c.8790del (p.Met2931fs) |
Deletion |
Pathogenic |
6800 |
rs796051864 |
5:90004691-90004691 |
5:90708874-90708874 |
3 |
ADGRV1 |
NM_032119.4(ADGRV1):c.18732_18750del (p.Gly6243_Tyr6244insTer) |
Deletion |
Pathogenic |
6801 |
rs796051865 |
5:90449141-90449159 |
5:91153324-91153342 |
4 |
ADGRV1 |
NM_032119.4(ADGRV1):c.18131A>G (p.Tyr6044Cys) |
SNV |
Pathogenic |
6802 |
rs121909763 |
5:90281318-90281318 |
5:90985501-90985501 |
5 |
ADGRV1 |
NM_032119.4(ADGRV1):c.2258_2270del (p.Gln753fs) |
Deletion |
Pathogenic |
6804 |
rs796051866 |
5:89938469-89938481 |
5:90642652-90642664 |
6 |
ADGRV1 |
NM_032119.4(ADGRV1):c.5357_5358del (p.Lys1786fs) |
Deletion |
Pathogenic |
6805 |
rs796051867 |
5:89971939-89971940 |
5:90676122-90676123 |
7 |
ADGRV1 |
NG_007083.1:g.371658_507674del |
Deletion |
Pathogenic |
6803 |
|
5:90221274-90357290 |
5:90925457-91061473 |
8 |
ADGRV1 |
NM_032119.4(ADGRV1):c.7606G>T (p.Glu2536Ter) |
SNV |
Pathogenic |
266014 |
rs886039893 |
5:89990179-89990179 |
5:90694362-90694362 |
9 |
ADGRV1 |
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter) |
SNV |
Pathogenic |
46306 |
rs373780305 |
5:89938703-89938703 |
5:90642886-90642886 |
10 |
ADGRV1 |
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) |
SNV |
Pathogenic |
6798 |
rs121909762 |
5:89986808-89986808 |
5:90690991-90690991 |
11 |
ADGRV1 |
NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter) |
SNV |
Pathogenic |
503694 |
rs747622607 |
5:90144496-90144496 |
5:90848679-90848679 |
12 |
ADGRV1 |
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg) |
SNV |
Pathogenic |
402256 |
rs1060499795 |
5:90024750-90024750 |
5:90728933-90728933 |
13 |
ADGRV1 |
NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=) |
SNV |
Pathogenic |
402257 |
rs1060499796 |
5:89940686-89940686 |
5:90644869-90644869 |
14 |
ADGRV1 |
NM_032119.4(ADGRV1):c.1608C>G (p.Tyr536Ter) |
SNV |
Pathogenic |
545416 |
rs1561416879 |
5:89925125-89925125 |
5:90629308-90629308 |
15 |
ADGRV1 |
NM_032119.4(ADGRV1):c.11122-1G>C |
SNV |
Pathogenic |
599115 |
rs1561660434 |
5:90049390-90049390 |
5:90753573-90753573 |
16 |
ADGRV1 |
NM_032119.4(ADGRV1):c.2320G>T (p.Gly774Ter) |
SNV |
Pathogenic |
627429 |
rs1561441451 |
5:89938532-89938532 |
5:90642715-90642715 |
17 |
ADGRV1 |
NM_032119.4(ADGRV1):c.16114G>T (p.Glu5372Ter) |
SNV |
Pathogenic |
627430 |
rs377650415 |
5:90111471-90111471 |
5:90815654-90815654 |
18 |
ADGRV1 |
NM_032119.4(ADGRV1):c.17200G>T (p.Glu5734Ter) |
SNV |
Pathogenic |
627431 |
rs1561843914 |
5:90144634-90144634 |
5:90848817-90848817 |
19 |
ADGRV1 |
NM_032119.4(ADGRV1):c.7885G>T (p.Gly2629Ter) |
SNV |
Pathogenic |
627432 |
rs1561543496 |
5:89990458-89990458 |
5:90694641-90694641 |
20 |
ADGRV1 |
NM_032119.4(ADGRV1):c.3133del (p.Ala1045fs) |
Deletion |
Pathogenic |
802124 |
rs1439933768 |
5:89943424-89943424 |
5:90647607-90647607 |
21 |
ADGRV1 |
NM_032119.4(ADGRV1):c.13655dup (p.Asn4553fs) |
Duplication |
Pathogenic |
802126 |
rs765376986 |
5:90083888-90083889 |
5:90788071-90788072 |
22 |
ADGRV1 |
NM_032119.4(ADGRV1):c.14467dup (p.Val4823fs) |
Duplication |
Pathogenic |
802127 |
rs1581135405 |
5:90087111-90087112 |
5:90791294-90791295 |
23 |
ADGRV1 |
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs) |
Deletion |
Pathogenic |
503620 |
rs757696771 |
5:90151631-90151632 |
5:90855814-90855815 |
24 |
ADGRV1 |
NM_032119.4(ADGRV1):c.9748+2T>C |
SNV |
Pathogenic |
812115 |
rs1580864592 |
5:90016878-90016878 |
5:90721061-90721061 |
25 |
ADGRV1 |
NM_032119.4(ADGRV1):c.6962_6963del (p.Val2321fs) |
Deletion |
Pathogenic |
812116 |
rs1276890742 |
5:89988431-89988432 |
5:90692614-90692615 |
26 |
ADGRV1 |
NM_032119.4(ADGRV1):c.13232-1G>A |
SNV |
Pathogenic |
812126 |
rs764583867 |
5:90078940-90078940 |
5:90783123-90783123 |
27 |
ADGRV1 |
NM_032119.4(ADGRV1):c.4148A>G (p.Tyr1383Cys) |
SNV |
Pathogenic |
827822 |
rs1580609185 |
5:89949539-89949539 |
5:90653722-90653722 |
28 |
ADGRV1 |
NM_032119.4(ADGRV1):c.4391T>G (p.Leu1464Arg) |
SNV |
Likely pathogenic |
829996 |
rs1580624630 |
5:89953734-89953734 |
5:90657917-90657917 |
29 |
ADGRV1 |
NM_032119.4(ADGRV1):c.2680del (p.Ser894fs) |
Deletion |
Likely pathogenic |
812127 |
rs1580567084 |
5:89939744-89939744 |
5:90643927-90643927 |
30 |
ADGRV1 |
NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr) |
SNV |
Likely pathogenic |
802125 |
rs1580845586 |
5:90012307-90012307 |
5:90716490-90716490 |
31 |
ADGRV1 |
NM_032119.4(ADGRV1):c.16197-1G>T |
SNV |
Likely pathogenic |
627433 |
rs1561805689 |
5:90119241-90119241 |
5:90823424-90823424 |
32 |
ADGRV1 |
NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter) |
SNV |
Likely pathogenic |
627434 |
rs1561790371 |
5:90111486-90111486 |
5:90815669-90815669 |
33 |
ADGRV1 |
NM_032119.4(ADGRV1):c.12436C>T (p.Arg4146Ter) |
SNV |
Likely pathogenic |
375405 |
rs369793306 |
5:90072302-90072302 |
5:90776485-90776485 |
34 |
ADGRV1 |
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) |
SNV |
Likely pathogenic |
6798 |
rs121909762 |
5:89986808-89986808 |
5:90690991-90690991 |
35 |
ADGRV1 |
NM_032119.3:c.16079-1455_c.16196+155del |
Deletion |
Likely pathogenic |
224744 |
|
|
|
36 |
ADGRV1 |
NC_000005.10:g.(90694702_90696936)_(90829187_90840577)del |
Deletion |
Likely pathogenic |
623121 |
|
|
5:90694702-90840577 |
37 |
ADGRV1 |
NM_032119.4(ADGRV1):c.12403+1G>T |
SNV |
Likely pathogenic |
143158 |
rs527236132 |
5:90070121-90070121 |
5:90774304-90774304 |
38 |
ADGRV1 |
NM_032119.4(ADGRV1):c.15736C>T (p.Arg5246Ter) |
SNV |
Likely pathogenic |
143159 |
rs527236131 |
5:90106813-90106813 |
5:90810996-90810996 |
39 |
ADGRV1 |
NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter) |
SNV |
Likely pathogenic |
143160 |
rs527236133 |
5:89988476-89988476 |
5:90692659-90692659 |
40 |
ADGRV1 |
NM_032119.4(ADGRV1):c.1239-8C>G |
SNV |
Likely pathogenic |
224743 |
rs869312178 |
5:89924371-89924371 |
5:90628554-90628554 |
41 |
ADGRV1 |
NM_032119.4(ADGRV1):c.17518del (p.Tyr5840fs) |
Deletion |
Likely pathogenic |
974883 |
|
5:90149942-90149942 |
5:90854125-90854125 |
42 |
ADGRV1 |
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) |
SNV |
Conflicting interpretations of pathogenicity |
179159 |
rs200512504 |
5:89985746-89985746 |
5:90689929-90689929 |
43 |
ADGRV1 |
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) |
SNV |
Conflicting interpretations of pathogenicity |
46348 |
rs41308846 |
5:89979871-89979871 |
5:90684054-90684054 |
44 |
ADGRV1 |
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) |
SNV |
Conflicting interpretations of pathogenicity |
158655 |
rs114137750 |
5:90016778-90016778 |
5:90720961-90720961 |
45 |
ADGRV1 |
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) |
SNV |
Conflicting interpretations of pathogenicity |
163623 |
rs371947306 |
5:90124769-90124769 |
5:90828952-90828952 |
46 |
ADGRV1 |
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) |
SNV |
Uncertain significance |
137500 |
rs199988872 |
5:89930940-89930940 |
5:90635123-90635123 |
47 |
ADGRV1 |
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) |
SNV |
Uncertain significance |
46359 |
rs193030567 |
5:89988464-89988464 |
5:90692647-90692647 |
48 |
ADGRV1 |
NM_032119.4(ADGRV1):c.6952G>T (p.Val2318Phe) |
SNV |
Uncertain significance |
523055 |
rs1338945655 |
5:89988422-89988422 |
5:90692605-90692605 |
49 |
ADGRV1 |
NM_032119.4(ADGRV1):c.4108T>G (p.Phe1370Val) |
SNV |
Uncertain significance |
560461 |
rs1561464218 |
5:89949499-89949499 |
5:90653682-90653682 |
50 |
ADGRV1 |
NM_032119.4(ADGRV1):c.17992G>A (p.Val5998Met) |
SNV |
Uncertain significance |
417908 |
rs557989446 |
5:90281179-90281179 |
5:90985362-90985362 |