1 |
SETD2 |
NM_014159.7(SETD2):c.4997A>G (p.Tyr1666Cys) |
SNV |
Pathogenic
|
632591 |
rs1559720382 |
GRCh37: 3:47142966-47142966 GRCh38: 3:47101476-47101476 |
2 |
SETD2 |
NM_014159.7(SETD2):c.5761G>T (p.Glu1921Ter) |
SNV |
Pathogenic
|
976776 |
rs2041433287 |
GRCh37: 3:47125509-47125509 GRCh38: 3:47084019-47084019 |
3 |
SETD2 |
NM_014159.7(SETD2):c.820C>T (p.Gln274Ter) |
SNV |
Pathogenic
|
222955 |
rs869025571 |
GRCh37: 3:47165306-47165306 GRCh38: 3:47123816-47123816 |
4 |
SETD2 |
NM_014159.7(SETD2):c.6341del (p.Asn2114fs) |
DEL |
Pathogenic
|
222953 |
rs869025569 |
GRCh37: 3:47098933-47098933 GRCh38: 3:47057443-47057443 |
5 |
SETD2 |
NM_014159.7(SETD2):c.2028del (p.Pro677fs) |
DEL |
Pathogenic
|
222956 |
rs869025572 |
GRCh37: 3:47164098-47164098 GRCh38: 3:47122608-47122608 |
6 |
SETD2 |
NM_014159.7(SETD2):c.3671dup (p.Asn1224fs) |
DUP |
Pathogenic
|
958870 |
rs2043056964 |
GRCh37: 3:47162454-47162455 GRCh38: 3:47120964-47120965 |
7 |
SETD2 |
NM_014159.7(SETD2):c.5236G>T (p.Glu1746Ter) |
SNV |
Pathogenic
|
1073170 |
|
GRCh37: 3:47129644-47129644 GRCh38: 3:47088154-47088154 |
8 |
SETD2 |
NM_014159.7(SETD2):c.6069T>A (p.Tyr2023Ter) |
SNV |
Pathogenic
|
1074219 |
|
GRCh37: 3:47108600-47108600 GRCh38: 3:47067110-47067110 |
9 |
SETD2 |
NM_014159.7(SETD2):c.5177del (p.Gly1726fs) |
DEL |
Pathogenic
|
1076326 |
|
GRCh37: 3:47129703-47129703 GRCh38: 3:47088213-47088213 |
10 |
SETD2 |
NM_014159.7(SETD2):c.6712_6718del (p.Ser2238fs) |
DEL |
Pathogenic
|
1320096 |
|
GRCh37: 3:47098556-47098562 GRCh38: 3:47057066-47057072 |
11 |
SETD2 |
NM_014159.7(SETD2):c.1102C>T (p.Arg368Ter) |
SNV |
Pathogenic
|
1323578 |
|
GRCh37: 3:47165024-47165024 GRCh38: 3:47123534-47123534 |
12 |
SETD2 |
NM_014159.7(SETD2):c.1748_1751del (p.Lys583fs) |
DEL |
Pathogenic
|
1164031 |
|
GRCh37: 3:47164375-47164378 GRCh38: 3:47122885-47122888 |
13 |
SETD2 |
NM_014159.7(SETD2):c.4792C>T (p.Arg1598Ter) |
SNV |
Pathogenic
|
1451327 |
|
GRCh37: 3:47147534-47147534 GRCh38: 3:47106044-47106044 |
14 |
SETD2 |
NM_014159.7(SETD2):c.4375C>T (p.Arg1459Ter) |
SNV |
Pathogenic
|
1434833 |
|
GRCh37: 3:47161751-47161751 GRCh38: 3:47120261-47120261 |
15 |
SETD2 |
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) |
SNV |
Pathogenic
Pathogenic/Likely Pathogenic
|
388568 |
rs1057523157 |
GRCh37: 3:47129662-47129662 GRCh38: 3:47088172-47088172 |
16 |
SETD2 |
NM_014159.7(SETD2):c.5945dup (p.Asp1982fs) |
DUP |
Pathogenic
|
1710202 |
|
GRCh37: 3:47125324-47125325 GRCh38: 3:47083834-47083835 |
17 |
SETD2 |
NM_014159.7(SETD2):c.5444T>G (p.Leu1815Trp) |
SNV |
Pathogenic
|
222954 |
rs869025570 |
GRCh37: 3:47125826-47125826 GRCh38: 3:47084336-47084336 |
18 |
SETD2 |
NM_014159.7(SETD2):c.6029C>T (p.Thr2010Ile) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
955336 |
rs2041416610 |
GRCh37: 3:47125241-47125241 GRCh38: 3:47083751-47083751 |
19 |
SETD2 |
NM_014159.7(SETD2):c.2819G>T (p.Gly940Val) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
574593 |
rs751707090 |
GRCh37: 3:47163307-47163307 GRCh38: 3:47121817-47121817 |
20 |
SETD2 |
NM_014159.7(SETD2):c.1414C>T (p.Arg472Cys) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
580050 |
rs771203643 |
GRCh37: 3:47164712-47164712 GRCh38: 3:47123222-47123222 |
21 |
SETD2 |
NM_014159.7(SETD2):c.3026T>C (p.Met1009Thr) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
833850 |
rs114527197 |
GRCh37: 3:47163100-47163100 GRCh38: 3:47121610-47121610 |
22 |
SETD2 |
NM_014159.7(SETD2):c.2155A>G (p.Asn719Asp) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
135211 |
rs115859828 |
GRCh37: 3:47163971-47163971 GRCh38: 3:47122481-47122481 |
23 |
SETD2 |
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
521678 |
rs541943893 |
GRCh37: 3:47205396-47205396 GRCh38: 3:47163906-47163906 |
24 |
SETD2 |
NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
542227 |
rs145650484 |
GRCh37: 3:47164241-47164241 GRCh38: 3:47122751-47122751 |
25 |
SETD2 |
NM_014159.7(SETD2):c.148G>A (p.Ala50Thr) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
542232 |
rs191985301 |
GRCh37: 3:47165978-47165978 GRCh38: 3:47124488-47124488 |
26 |
SETD2 |
NM_014159.7(SETD2):c.827A>G (p.Asp276Gly) |
SNV |
Uncertain Significance
|
1184282 |
|
GRCh37: 3:47165299-47165299 GRCh38: 3:47123809-47123809 |
27 |
SETD2 |
NM_014159.7(SETD2):c.5887A>G (p.Lys1963Glu) |
SNV |
Uncertain Significance
|
960032 |
rs1482463965 |
GRCh37: 3:47125383-47125383 GRCh38: 3:47083893-47083893 |
28 |
SETD2 |
NM_014159.7(SETD2):c.6293+9C>T |
SNV |
Uncertain Significance
|
960555 |
rs2040360525 |
GRCh37: 3:47103644-47103644 GRCh38: 3:47062154-47062154 |
29 |
SETD2 |
NM_014159.7(SETD2):c.775A>G (p.Ile259Val) |
SNV |
Uncertain Significance
|
961459 |
rs750623264 |
GRCh37: 3:47165351-47165351 GRCh38: 3:47123861-47123861 |
30 |
SETD2 |
NM_014159.7(SETD2):c.6664C>T (p.Pro2222Ser) |
SNV |
Uncertain Significance
|
135207 |
rs587778666 |
GRCh37: 3:47098610-47098610 GRCh38: 3:47057120-47057120 |
31 |
SETD2 |
NM_014159.7(SETD2):c.3936A>G (p.Arg1312=) |
SNV |
Uncertain Significance
|
961931 |
rs756654781 |
GRCh37: 3:47162190-47162190 GRCh38: 3:47120700-47120700 |
32 |
SETD2 |
NM_014159.7(SETD2):c.6979A>G (p.Ser2327Gly) |
SNV |
Uncertain Significance
|
963525 |
rs1468649782 |
GRCh37: 3:47088096-47088096 GRCh38: 3:47046606-47046606 |
33 |
SETD2 |
NM_014159.7(SETD2):c.3038A>G (p.Asp1013Gly) |
SNV |
Uncertain Significance
|
966476 |
rs769034482 |
GRCh37: 3:47163088-47163088 GRCh38: 3:47121598-47121598 |
34 |
SETD2 |
NM_014159.7(SETD2):c.1769T>C (p.Leu590Ser) |
SNV |
Uncertain Significance
|
967019 |
rs1258459428 |
GRCh37: 3:47164357-47164357 GRCh38: 3:47122867-47122867 |
35 |
SETD2 |
NM_014159.7(SETD2):c.6760G>A (p.Val2254Ile) |
SNV |
Uncertain Significance
|
967489 |
rs746928112 |
GRCh37: 3:47098514-47098514 GRCh38: 3:47057024-47057024 |
36 |
SETD2 |
NM_014159.7(SETD2):c.6479C>T (p.Pro2160Leu) |
SNV |
Uncertain Significance
|
967738 |
rs745996964 |
GRCh37: 3:47098795-47098795 GRCh38: 3:47057305-47057305 |
37 |
SETD2 |
NM_014159.7(SETD2):c.3681T>G (p.Asp1227Glu) |
SNV |
Uncertain Significance
|
971957 |
rs1340269021 |
GRCh37: 3:47162445-47162445 GRCh38: 3:47120955-47120955 |
38 |
SETD2 |
NM_014159.7(SETD2):c.1928A>G (p.His643Arg) |
SNV |
Uncertain Significance
|
475497 |
rs776293901 |
GRCh37: 3:47164198-47164198 GRCh38: 3:47122708-47122708 |
39 |
SETD2 |
NM_014159.7(SETD2):c.1610T>G (p.Leu537Arg) |
SNV |
Uncertain Significance
|
475495 |
rs753117350 |
GRCh37: 3:47164516-47164516 GRCh38: 3:47123026-47123026 |
40 |
SETD2 |
NM_014159.7(SETD2):c.4487G>A (p.Arg1496Gln) |
SNV |
Uncertain Significance
|
475519 |
rs1553699111 |
GRCh37: 3:47158212-47158212 GRCh38: 3:47116722-47116722 |
41 |
SETD2 |
NM_014159.7(SETD2):c.26C>T (p.Pro9Leu) |
SNV |
Uncertain Significance
|
475501 |
rs1553707534 |
GRCh37: 3:47205389-47205389 GRCh38: 3:47163899-47163899 |
42 |
SETD2 |
NM_014159.7(SETD2):c.3361G>A (p.Ala1121Thr) |
SNV |
Uncertain Significance
|
475509 |
rs1336548478 |
GRCh37: 3:47162765-47162765 GRCh38: 3:47121275-47121275 |
43 |
SETD2 |
NM_014159.7(SETD2):c.2515A>G (p.Arg839Gly) |
SNV |
Uncertain Significance
|
475500 |
rs1441287639 |
GRCh37: 3:47163611-47163611 GRCh38: 3:47122121-47122121 |
44 |
SETD2 |
NM_014159.7(SETD2):c.3582A>G (p.Ile1194Met) |
SNV |
Uncertain Significance
|
475515 |
rs1211620525 |
GRCh37: 3:47162544-47162544 GRCh38: 3:47121054-47121054 |
45 |
SETD2 |
NM_014159.7(SETD2):c.6614A>G (p.His2205Arg) |
SNV |
Uncertain Significance
|
475533 |
rs746404627 |
GRCh37: 3:47098660-47098660 GRCh38: 3:47057170-47057170 |
46 |
SETD2 |
NM_014159.7(SETD2):c.4344C>G (p.Ser1448=) |
SNV |
Uncertain Significance
|
475518 |
rs992969331 |
GRCh37: 3:47161782-47161782 GRCh38: 3:47120292-47120292 |
47 |
SETD2 |
NM_014159.7(SETD2):c.2299A>G (p.Thr767Ala) |
SNV |
Uncertain Significance
|
475499 |
rs564476604 |
GRCh37: 3:47163827-47163827 GRCh38: 3:47122337-47122337 |
48 |
SETD2 |
NM_014159.7(SETD2):c.4121G>A (p.Ser1374Asn) |
SNV |
Uncertain Significance
|
542218 |
rs762222123 |
GRCh37: 3:47162005-47162005 GRCh38: 3:47120515-47120515 |
49 |
SETD2 |
NM_014159.7(SETD2):c.2224T>G (p.Ser742Ala) |
SNV |
Uncertain Significance
|
542219 |
rs774644234 |
GRCh37: 3:47163902-47163902 GRCh38: 3:47122412-47122412 |
50 |
SETD2 |
NM_014159.7(SETD2):c.676C>G (p.Pro226Ala) |
SNV |
Uncertain Significance
|
542220 |
rs780963440 |
GRCh37: 3:47165450-47165450 GRCh38: 3:47123960-47123960 |