1 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.2207dup (p.Leu737fs) | ‎‎
duplication |
Pathogenic |
436479 |
rs1553275687 |
1:220356064-220356065 |
1:220182722-220182723 |
2 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.1434G>A (p.Trp478Ter) | ‎‎
SNV |
Pathogenic |
100788 |
rs587777168 |
1:220364463-220364463 |
1:220191121-220191121 |
3 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.3637C>T (p.Arg1213Ter) | ‎‎
SNV |
Pathogenic |
100789 |
rs587777169 |
1:220327318-220327318 |
1:220153976-220153976 |
4 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.3085G>T (p.Glu1029Ter) | ‎‎
SNV |
Pathogenic |
100790 |
rs587777170 |
1:220340637-220340637 |
1:220167295-220167295 |
5 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.499_507del (p.Phe167_Thr169del) | ‎‎
deletion |
Pathogenic |
30782 |
rs1553278569 |
1:220384146-220384154 |
1:220210804-220210812 |
6 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
100787 |
rs587777167 |
1:220364621-220364621 |
1:220191279-220191279 |
7 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
211984 |
rs201613456 |
1:220356264-220356264 |
1:220182922-220182922 |
8 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
235683 |
rs139337049 |
1:220355619-220355619 |
1:220182277-220182277 |
9 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.3702C>T (p.Val1234=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
286109 |
rs137897304 |
1:220326692-220326692 |
1:220153350-220153350 |
10 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
287196 |
rs34081806 |
1:220326552-220326552 |
1:220153210-220153210 |
11 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.713-2A>G | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
208607 |
rs797045103 |
1:220375718-220375718 |
1:220202376-220202376 |
12 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
211989 |
rs59190330 |
1:220324715-220324715 |
1:220151373-220151373 |
13 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.2168T>A (p.Val723Glu) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
295652 |
rs150643803 |
1:220356104-220356104 |
1:220182762-220182762 |
14 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.3867+13C>T | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
295640 |
rs200579008 |
1:220326514-220326514 |
1:220153172-220153172 |
15 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.3390G>A (p.Ala1130=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
295642 |
rs140377995 |
1:220330777-220330777 |
1:220157435-220157435 |
16 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.774A>G (p.Leu258=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
130073 |
rs576411922 |
1:220375655-220375655 |
1:220202313-220202313 |
17 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.3294T>C (p.Ser1098=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
767430 |
|
1:220331186-220331186 |
1:220157844-220157844 |
18 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.*1340T>C | ‎‎
SNV |
Uncertain significance |
874117 |
|
1:220323253-220323253 |
1:220149911-220149911 |
19 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.*1087A>C | ‎‎
SNV |
Uncertain significance |
875049 |
|
1:220323506-220323506 |
1:220150164-220150164 |
20 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.*777T>C | ‎‎
SNV |
Uncertain significance |
875050 |
|
1:220323816-220323816 |
1:220150474-220150474 |
21 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.*509G>A | ‎‎
SNV |
Uncertain significance |
875978 |
|
1:220324084-220324084 |
1:220150742-220150742 |
22 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.*436A>G | ‎‎
SNV |
Uncertain significance |
876952 |
|
1:220324157-220324157 |
1:220150815-220150815 |
23 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.*417A>G | ‎‎
SNV |
Uncertain significance |
876953 |
|
1:220324176-220324176 |
1:220150834-220150834 |
24 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.*391C>T | ‎‎
SNV |
Uncertain significance |
876954 |
|
1:220324202-220324202 |
1:220150860-220150860 |
25 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.*104T>C | ‎‎
SNV |
Uncertain significance |
874166 |
|
1:220324489-220324489 |
1:220151147-220151147 |
26 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.*78G>A | ‎‎
SNV |
Uncertain significance |
874167 |
|
1:220324515-220324515 |
1:220151173-220151173 |
27 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.2922T>A (p.Gly974=) | ‎‎
SNV |
Uncertain significance |
874219 |
|
1:220340902-220340902 |
1:220167560-220167560 |
28 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.2340G>C (p.Lys780Asn) | ‎‎
SNV |
Uncertain significance |
876099 |
|
1:220346055-220346055 |
1:220172713-220172713 |
29 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.2059G>A (p.Glu687Lys) | ‎‎
SNV |
Uncertain significance |
877054 |
|
1:220356213-220356213 |
1:220182871-220182871 |
30 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.1608C>T (p.Asn536=) | ‎‎
SNV |
Uncertain significance |
875200 |
|
1:220363742-220363742 |
1:220190400-220190400 |
31 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.1593T>A (p.Ser531Arg) | ‎‎
SNV |
Uncertain significance |
875201 |
|
1:220363757-220363757 |
1:220190415-220190415 |
32 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.1589G>A (p.Gly530Glu) | ‎‎
SNV |
Uncertain significance |
875202 |
|
1:220363761-220363761 |
1:220190419-220190419 |
33 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.1580C>G (p.Pro527Arg) | ‎‎
SNV |
Uncertain significance |
876157 |
|
1:220363770-220363770 |
1:220190428-220190428 |
34 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.1516G>A (p.Gly506Ser) | ‎‎
SNV |
Uncertain significance |
876158 |
|
1:220363834-220363834 |
1:220190492-220190492 |
35 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.1328T>C (p.Val443Ala) | ‎‎
SNV |
Uncertain significance |
876299 |
|
1:220364569-220364569 |
1:220191227-220191227 |
36 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.1244G>A (p.Arg415Lys) | ‎‎
SNV |
Uncertain significance |
876300 |
|
1:220366608-220366608 |
1:220193266-220193266 |
37 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.695G>A (p.Arg232Gln) | ‎‎
SNV |
Uncertain significance |
875250 |
|
1:220379266-220379266 |
1:220205924-220205924 |
38 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.376G>A (p.Val126Ile) | ‎‎
SNV |
Uncertain significance |
876344 |
|
1:220386239-220386239 |
1:220212897-220212897 |
39 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.205A>G (p.Thr69Ala) | ‎‎
SNV |
Uncertain significance |
876345 |
|
1:220387297-220387297 |
1:220213955-220213955 |
40 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.86T>G (p.Ile29Ser) | ‎‎
SNV |
Uncertain significance |
874387 |
|
1:220445594-220445594 |
1:220272252-220272252 |
41 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.-20T>C | ‎‎
SNV |
Uncertain significance |
874388 |
|
1:220445699-220445699 |
1:220272357-220272357 |
42 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.-68C>T | ‎‎
SNV |
Uncertain significance |
875305 |
|
1:220445747-220445747 |
1:220272405-220272405 |
43 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.2981-7C>T | ‎‎
SNV |
Uncertain significance |
874218 |
|
1:220340748-220340748 |
1:220167406-220167406 |
44 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.960+13T>G | ‎‎
SNV |
Uncertain significance |
875249 |
|
1:220369579-220369579 |
1:220196237-220196237 |
45 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.613-14T>A | ‎‎
SNV |
Uncertain significance |
876216 |
|
1:220379362-220379362 |
1:220206020-220206020 |
46 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.1406C>T (p.Ala469Val) | ‎‎
SNV |
Uncertain significance |
436474 |
rs151225064 |
1:220364491-220364491 |
1:220191149-220191149 |
47 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.310T>C (p.Trp104Arg) | ‎‎
SNV |
Uncertain significance |
463030 |
rs1553278790 |
1:220386305-220386305 |
1:220212963-220212963 |
48 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.3805G>A (p.Val1269Ile) | ‎‎
SNV |
Uncertain significance |
463031 |
rs778851334 |
1:220326589-220326589 |
1:220153247-220153247 |
49 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.1511T>C (p.Ile504Thr) | ‎‎
SNV |
Uncertain significance |
463027 |
rs1553276414 |
1:220363839-220363839 |
1:220190497-220190497 |
50 |
RAB3GAP2 |
NM_012414.4(RAB3GAP2):c.1258C>T (p.Arg420Cys) | ‎‎
SNV |
Uncertain significance |
463026 |
rs188522997 |
1:220366594-220366594 |
1:220193252-220193252 |