1 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.3154G> T (p.Gly1052Cys)
|
single nucleotide variant |
Pathogenic |
rs121434310
|
GRCh37 |
Chromosome 1, 220338075: 220338075 |
2 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.3154G> T (p.Gly1052Cys)
|
single nucleotide variant |
Pathogenic |
rs121434310
|
GRCh38 |
Chromosome 1, 220164733: 220164733 |
3 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.1276C> T (p.Arg426Cys)
|
single nucleotide variant |
Likely pathogenic |
rs587777167
|
GRCh37 |
Chromosome 1, 220364621: 220364621 |
4 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.1276C> T (p.Arg426Cys)
|
single nucleotide variant |
Likely pathogenic |
rs587777167
|
GRCh38 |
Chromosome 1, 220191279: 220191279 |
5 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.774A> G (p.Leu258=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs576411922
|
GRCh37 |
Chromosome 1, 220375655: 220375655 |
6 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.774A> G (p.Leu258=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs576411922
|
GRCh38 |
Chromosome 1, 220202313: 220202313 |
7 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.2088A> G (p.Thr696=)
|
single nucleotide variant |
Benign/Likely benign |
rs2577126
|
GRCh37 |
Chromosome 1, 220356184: 220356184 |
8 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.2088A> G (p.Thr696=)
|
single nucleotide variant |
Benign/Likely benign |
rs2577126
|
GRCh38 |
Chromosome 1, 220182842: 220182842 |
9 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.2587A> G (p.Thr863Ala)
|
single nucleotide variant |
Benign/Likely benign |
rs12045447
|
GRCh37 |
Chromosome 1, 220344453: 220344453 |
10 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.2587A> G (p.Thr863Ala)
|
single nucleotide variant |
Benign/Likely benign |
rs12045447
|
GRCh38 |
Chromosome 1, 220171111: 220171111 |
11 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.3275G> C (p.Ser1092Thr)
|
single nucleotide variant |
Benign/Likely benign |
rs2289189
|
GRCh37 |
Chromosome 1, 220331205: 220331205 |
12 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.3275G> C (p.Ser1092Thr)
|
single nucleotide variant |
Benign/Likely benign |
rs2289189
|
GRCh38 |
Chromosome 1, 220157863: 220157863 |
13 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.3495G> A (p.Leu1165=)
|
single nucleotide variant |
Benign/Likely benign |
rs11547779
|
GRCh37 |
Chromosome 1, 220330672: 220330672 |
14 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.3495G> A (p.Leu1165=)
|
single nucleotide variant |
Benign/Likely benign |
rs11547779
|
GRCh38 |
Chromosome 1, 220157330: 220157330 |
15 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.4060A> G (p.Ile1354Val)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs59190330
|
GRCh37 |
Chromosome 1, 220324715: 220324715 |
16 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.4060A> G (p.Ile1354Val)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs59190330
|
GRCh38 |
Chromosome 1, 220151373: 220151373 |
17 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.3924G> C (p.Thr1308=)
|
single nucleotide variant |
Benign |
rs73098539
|
GRCh37 |
Chromosome 1, 220325050: 220325050 |
18 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.3924G> C (p.Thr1308=)
|
single nucleotide variant |
Benign |
rs73098539
|
GRCh38 |
Chromosome 1, 220151708: 220151708 |
19 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.2008C> G (p.Leu670Val)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs201613456
|
GRCh37 |
Chromosome 1, 220356264: 220356264 |
20 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.2008C> G (p.Leu670Val)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs201613456
|
GRCh38 |
Chromosome 1, 220182922: 220182922 |
21 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.2290C> T (p.Leu764Phe)
|
single nucleotide variant |
Uncertain significance |
rs139337049
|
GRCh37 |
Chromosome 1, 220355619: 220355619 |
22 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.2290C> T (p.Leu764Phe)
|
single nucleotide variant |
Uncertain significance |
rs139337049
|
GRCh38 |
Chromosome 1, 220182277: 220182277 |
23 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.3991C> A (p.Leu1331Ile)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs149842844
|
GRCh37 |
Chromosome 1, 220324983: 220324983 |
24 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.3991C> A (p.Leu1331Ile)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs149842844
|
GRCh38 |
Chromosome 1, 220151641: 220151641 |
25 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.*2923_*2925delCTT
|
deletion |
Benign |
rs3217443
|
GRCh38 |
Chromosome 1, 220148326: 220148328 |
26 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.*2923_*2925delCTT
|
deletion |
Benign |
rs3217443
|
GRCh37 |
Chromosome 1, 220321668: 220321670 |
27 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.*2518A> G
|
single nucleotide variant |
Uncertain significance |
rs528100310
|
GRCh38 |
Chromosome 1, 220148733: 220148733 |
28 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.*2518A> G
|
single nucleotide variant |
Uncertain significance |
rs528100310
|
GRCh37 |
Chromosome 1, 220322075: 220322075 |
29 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.*2450G> T
|
single nucleotide variant |
Uncertain significance |
rs568052992
|
GRCh38 |
Chromosome 1, 220148801: 220148801 |
30 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.*2450G> T
|
single nucleotide variant |
Uncertain significance |
rs568052992
|
GRCh37 |
Chromosome 1, 220322143: 220322143 |
31 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.*2347T> C
|
single nucleotide variant |
Uncertain significance |
rs886046010
|
GRCh38 |
Chromosome 1, 220148904: 220148904 |
32 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.*2347T> C
|
single nucleotide variant |
Uncertain significance |
rs886046010
|
GRCh37 |
Chromosome 1, 220322246: 220322246 |
33 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.*2338_*2339delAT
|
deletion |
Uncertain significance |
rs886046011
|
GRCh38 |
Chromosome 1, 220148912: 220148913 |
34 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.*2338_*2339delAT
|
deletion |
Uncertain significance |
rs886046011
|
GRCh37 |
Chromosome 1, 220322254: 220322255 |
35 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.*2098_*2101delAAAT
|
deletion |
Uncertain significance |
rs886046013
|
GRCh38 |
Chromosome 1, 220149150: 220149153 |
36 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.*2098_*2101delAAAT
|
deletion |
Uncertain significance |
rs886046013
|
GRCh37 |
Chromosome 1, 220322492: 220322495 |
37 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.*1143A> G
|
single nucleotide variant |
Uncertain significance |
rs865932881
|
GRCh38 |
Chromosome 1, 220150108: 220150108 |
38 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.*1143A> G
|
single nucleotide variant |
Uncertain significance |
rs865932881
|
GRCh37 |
Chromosome 1, 220323450: 220323450 |
39 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.*798_*799dupAA
|
duplication |
Uncertain significance |
rs374222775
|
GRCh38 |
Chromosome 1, 220150452: 220150453 |
40 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.*798_*799dupAA
|
duplication |
Uncertain significance |
rs374222775
|
GRCh37 |
Chromosome 1, 220323794: 220323795 |
41 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.*537G> C
|
single nucleotide variant |
Uncertain significance |
rs886046015
|
GRCh38 |
Chromosome 1, 220150714: 220150714 |
42 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.*537G> C
|
single nucleotide variant |
Uncertain significance |
rs886046015
|
GRCh37 |
Chromosome 1, 220324056: 220324056 |
43 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.3978G> T (p.Glu1326Asp)
|
single nucleotide variant |
Uncertain significance |
rs886046017
|
GRCh38 |
Chromosome 1, 220151654: 220151654 |
44 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.3978G> T (p.Glu1326Asp)
|
single nucleotide variant |
Uncertain significance |
rs886046017
|
GRCh37 |
Chromosome 1, 220324996: 220324996 |
45 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.3143A> G (p.His1048Arg)
|
single nucleotide variant |
Uncertain significance |
rs151244742
|
GRCh38 |
Chromosome 1, 220164744: 220164744 |
46 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.3143A> G (p.His1048Arg)
|
single nucleotide variant |
Uncertain significance |
rs151244742
|
GRCh37 |
Chromosome 1, 220338086: 220338086 |
47 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.2527G> A (p.Val843Ile)
|
single nucleotide variant |
Uncertain significance |
rs753147106
|
GRCh38 |
Chromosome 1, 220171939: 220171939 |
48 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.2527G> A (p.Val843Ile)
|
single nucleotide variant |
Uncertain significance |
rs753147106
|
GRCh37 |
Chromosome 1, 220345281: 220345281 |
49 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.2304G> A (p.Leu768=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs140146408
|
GRCh38 |
Chromosome 1, 220182263: 220182263 |
50 |
RAB3GAP2
|
NM_012414.3(RAB3GAP2): c.2304G> A (p.Leu768=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs140146408
|
GRCh37 |
Chromosome 1, 220355605: 220355605 |