1 |
SETD2
|
NM_014159.6(SETD2): c.5812G> A (p.Val1938Ile)
|
single nucleotide variant |
Uncertain significance |
rs116417406
|
GRCh38 |
Chromosome 3, 47083968: 47083968 |
2 |
SETD2
|
NM_014159.6(SETD2): c.5812G> A (p.Val1938Ile)
|
single nucleotide variant |
Uncertain significance |
rs116417406
|
GRCh37 |
Chromosome 3, 47125458: 47125458 |
3 |
SETD2
|
NM_014159.6(SETD2): c.5900G> A (p.Gly1967Asp)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs143991928
|
GRCh38 |
Chromosome 3, 47083880: 47083880 |
4 |
SETD2
|
NM_014159.6(SETD2): c.5900G> A (p.Gly1967Asp)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs143991928
|
GRCh37 |
Chromosome 3, 47125370: 47125370 |
5 |
SETD2
|
NM_014159.6(SETD2): c.5633T> C (p.Phe1878Ser)
|
single nucleotide variant |
Uncertain significance |
rs587778665
|
GRCh38 |
Chromosome 3, 47084147: 47084147 |
6 |
SETD2
|
NM_014159.6(SETD2): c.5633T> C (p.Phe1878Ser)
|
single nucleotide variant |
Uncertain significance |
rs587778665
|
GRCh37 |
Chromosome 3, 47125637: 47125637 |
7 |
SETD2
|
NM_014159.6(SETD2): c.1579A> G (p.Ile527Val)
|
single nucleotide variant |
Uncertain significance |
rs373069098
|
GRCh38 |
Chromosome 3, 47123057: 47123057 |
8 |
SETD2
|
NM_014159.6(SETD2): c.1579A> G (p.Ile527Val)
|
single nucleotide variant |
Uncertain significance |
rs373069098
|
GRCh37 |
Chromosome 3, 47164547: 47164547 |
9 |
SETD2
|
NM_014159.6(SETD2): c.1687A> G (p.Ile563Val)
|
single nucleotide variant |
Uncertain significance |
rs587778668
|
GRCh38 |
Chromosome 3, 47122949: 47122949 |
10 |
SETD2
|
NM_014159.6(SETD2): c.1687A> G (p.Ile563Val)
|
single nucleotide variant |
Uncertain significance |
rs587778668
|
GRCh37 |
Chromosome 3, 47164439: 47164439 |
11 |
SETD2
|
NM_014159.6(SETD2): c.2155A> G (p.Asn719Asp)
|
single nucleotide variant |
Uncertain significance |
rs115859828
|
GRCh38 |
Chromosome 3, 47122481: 47122481 |
12 |
SETD2
|
NM_014159.6(SETD2): c.2155A> G (p.Asn719Asp)
|
single nucleotide variant |
Uncertain significance |
rs115859828
|
GRCh37 |
Chromosome 3, 47163971: 47163971 |
13 |
SETD2
|
NM_014159.6(SETD2): c.3097A> G (p.Thr1033Ala)
|
single nucleotide variant |
Likely benign |
rs145759179
|
GRCh38 |
Chromosome 3, 47121539: 47121539 |
14 |
SETD2
|
NM_014159.6(SETD2): c.3097A> G (p.Thr1033Ala)
|
single nucleotide variant |
Likely benign |
rs145759179
|
GRCh37 |
Chromosome 3, 47163029: 47163029 |
15 |
SETD2
|
NM_014159.6(SETD2): c.3229A> G (p.Thr1077Ala)
|
single nucleotide variant |
Likely benign |
rs114719990
|
GRCh37 |
Chromosome 3, 47162897: 47162897 |
16 |
SETD2
|
NM_014159.6(SETD2): c.3229A> G (p.Thr1077Ala)
|
single nucleotide variant |
Likely benign |
rs114719990
|
GRCh38 |
Chromosome 3, 47121407: 47121407 |
17 |
SETD2
|
NM_014159.6(SETD2): c.1775C> A (p.Thr592Lys)
|
single nucleotide variant |
Likely benign |
rs115569620
|
GRCh37 |
Chromosome 3, 47164351: 47164351 |
18 |
SETD2
|
NM_014159.6(SETD2): c.1775C> A (p.Thr592Lys)
|
single nucleotide variant |
Likely benign |
rs115569620
|
GRCh38 |
Chromosome 3, 47122861: 47122861 |
19 |
SETD2
|
NM_014159.6(SETD2): c.2251C> A (p.Pro751Thr)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs115788094
|
GRCh37 |
Chromosome 3, 47163875: 47163875 |
20 |
SETD2
|
NM_014159.6(SETD2): c.2251C> A (p.Pro751Thr)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs115788094
|
GRCh38 |
Chromosome 3, 47122385: 47122385 |
21 |
SETD2
|
NM_014159.6(SETD2): c.2543C> T (p.Ala848Val)
|
single nucleotide variant |
Benign/Likely benign |
rs75248784
|
GRCh37 |
Chromosome 3, 47163583: 47163583 |
22 |
SETD2
|
NM_014159.6(SETD2): c.2543C> T (p.Ala848Val)
|
single nucleotide variant |
Benign/Likely benign |
rs75248784
|
GRCh38 |
Chromosome 3, 47122093: 47122093 |
23 |
SETD2
|
NM_014159.6(SETD2): c.2783C> G (p.Thr928Arg)
|
single nucleotide variant |
Benign |
rs72895708
|
GRCh37 |
Chromosome 3, 47163343: 47163343 |
24 |
SETD2
|
NM_014159.6(SETD2): c.2783C> G (p.Thr928Arg)
|
single nucleotide variant |
Benign |
rs72895708
|
GRCh38 |
Chromosome 3, 47121853: 47121853 |
25 |
SETD2
|
NM_014159.6(SETD2): c.310C> A (p.Pro104Thr)
|
single nucleotide variant |
Likely benign |
rs539506462
|
GRCh37 |
Chromosome 3, 47165816: 47165816 |
26 |
SETD2
|
NM_014159.6(SETD2): c.310C> A (p.Pro104Thr)
|
single nucleotide variant |
Likely benign |
rs539506462
|
GRCh38 |
Chromosome 3, 47124326: 47124326 |
27 |
SETD2
|
NM_014159.6(SETD2): c.557C> T (p.Pro186Leu)
|
single nucleotide variant |
Benign |
rs78759480
|
GRCh37 |
Chromosome 3, 47165569: 47165569 |
28 |
SETD2
|
NM_014159.6(SETD2): c.557C> T (p.Pro186Leu)
|
single nucleotide variant |
Benign |
rs78759480
|
GRCh38 |
Chromosome 3, 47124079: 47124079 |
29 |
SETD2
|
NM_014159.6(SETD2): c.2302G> C (p.Val768Leu)
|
single nucleotide variant |
Benign/Likely benign |
rs9311404
|
GRCh37 |
Chromosome 3, 47163824: 47163824 |
30 |
SETD2
|
NM_014159.6(SETD2): c.2302G> C (p.Val768Leu)
|
single nucleotide variant |
Benign/Likely benign |
rs9311404
|
GRCh38 |
Chromosome 3, 47122334: 47122334 |
31 |
SETD2
|
NM_014159.6(SETD2): c.2704G> C (p.Glu902Gln)
|
single nucleotide variant |
Benign |
rs58906143
|
GRCh37 |
Chromosome 3, 47163422: 47163422 |
32 |
SETD2
|
NM_014159.6(SETD2): c.2704G> C (p.Glu902Gln)
|
single nucleotide variant |
Benign |
rs58906143
|
GRCh38 |
Chromosome 3, 47121932: 47121932 |
33 |
SETD2
|
NM_014159.6(SETD2): c.2794G> A (p.Val932Ile)
|
single nucleotide variant |
Uncertain significance |
rs141532143
|
GRCh37 |
Chromosome 3, 47163332: 47163332 |
34 |
SETD2
|
NM_014159.6(SETD2): c.2794G> A (p.Val932Ile)
|
single nucleotide variant |
Uncertain significance |
rs141532143
|
GRCh38 |
Chromosome 3, 47121842: 47121842 |
35 |
SETD2
|
NM_014159.6(SETD2): c.2450T> C (p.Met817Thr)
|
single nucleotide variant |
Uncertain significance |
rs115023083
|
GRCh37 |
Chromosome 3, 47163676: 47163676 |
36 |
SETD2
|
NM_014159.6(SETD2): c.2450T> C (p.Met817Thr)
|
single nucleotide variant |
Uncertain significance |
rs115023083
|
GRCh38 |
Chromosome 3, 47122186: 47122186 |
37 |
SETD2
|
NM_014159.6(SETD2): c.6341delA (p.Asn2114Ilefs)
|
deletion |
Pathogenic |
rs869025569
|
GRCh38 |
Chromosome 3, 47057443: 47057443 |
38 |
SETD2
|
NM_014159.6(SETD2): c.6341delA (p.Asn2114Ilefs)
|
deletion |
Pathogenic |
rs869025569
|
GRCh37 |
Chromosome 3, 47098933: 47098933 |
39 |
SETD2
|
NM_014159.6(SETD2): c.5444T> G (p.Leu1815Trp)
|
single nucleotide variant |
Pathogenic |
rs869025570
|
GRCh37 |
Chromosome 3, 47125826: 47125826 |
40 |
SETD2
|
NM_014159.6(SETD2): c.5444T> G (p.Leu1815Trp)
|
single nucleotide variant |
Pathogenic |
rs869025570
|
GRCh38 |
Chromosome 3, 47084336: 47084336 |
41 |
SETD2
|
NM_014159.6(SETD2): c.820C> T (p.Gln274Ter)
|
single nucleotide variant |
Pathogenic |
rs869025571
|
GRCh37 |
Chromosome 3, 47165306: 47165306 |
42 |
SETD2
|
NM_014159.6(SETD2): c.820C> T (p.Gln274Ter)
|
single nucleotide variant |
Pathogenic |
rs869025571
|
GRCh38 |
Chromosome 3, 47123816: 47123816 |
43 |
SETD2
|
NM_014159.6(SETD2): c.2028delT (p.Pro677Leufs)
|
deletion |
Pathogenic |
rs869025572
|
GRCh37 |
Chromosome 3, 47164098: 47164098 |
44 |
SETD2
|
NM_014159.6(SETD2): c.2028delT (p.Pro677Leufs)
|
deletion |
Pathogenic |
rs869025572
|
GRCh38 |
Chromosome 3, 47122608: 47122608 |
45 |
SETD2
|
NM_014159.6(SETD2): c.4027C> A (p.Gln1343Lys)
|
single nucleotide variant |
Uncertain significance |
rs781672875
|
GRCh37 |
Chromosome 3, 47162099: 47162099 |
46 |
SETD2
|
NM_014159.6(SETD2): c.4027C> A (p.Gln1343Lys)
|
single nucleotide variant |
Uncertain significance |
rs781672875
|
GRCh38 |
Chromosome 3, 47120609: 47120609 |
47 |
SETD2
|
NM_014159.6(SETD2): c.6614A> G (p.His2205Arg)
|
single nucleotide variant |
Uncertain significance |
rs746404627
|
GRCh37 |
Chromosome 3, 47098660: 47098660 |
48 |
SETD2
|
NM_014159.6(SETD2): c.6614A> G (p.His2205Arg)
|
single nucleotide variant |
Uncertain significance |
rs746404627
|
GRCh38 |
Chromosome 3, 47057170: 47057170 |
49 |
SETD2
|
NM_014159.6(SETD2): c.6173A> G (p.Asn2058Ser)
|
single nucleotide variant |
Benign |
rs116277395
|
GRCh37 |
Chromosome 3, 47103773: 47103773 |
50 |
SETD2
|
NM_014159.6(SETD2): c.6173A> G (p.Asn2058Ser)
|
single nucleotide variant |
Benign |
rs116277395
|
GRCh38 |
Chromosome 3, 47062283: 47062283 |