1 |
SETD2 |
NM_014159.7(SETD2):c.4997A>G (p.Tyr1666Cys) |
SNV |
Pathogenic |
632591 |
rs1559720382 |
3:47142966-47142966 |
3:47101476-47101476 |
2 |
SETD2 |
NM_014159.7(SETD2):c.6341del (p.Asn2114fs) |
deletion |
Pathogenic |
222953 |
rs869025569 |
3:47098933-47098933 |
3:47057443-47057443 |
3 |
SETD2 |
NM_014159.7(SETD2):c.5444T>G (p.Leu1815Trp) |
SNV |
Pathogenic |
222954 |
rs869025570 |
3:47125826-47125826 |
3:47084336-47084336 |
4 |
SETD2 |
NM_014159.7(SETD2):c.820C>T (p.Gln274Ter) |
SNV |
Pathogenic |
222955 |
rs869025571 |
3:47165306-47165306 |
3:47123816-47123816 |
5 |
SETD2 |
NM_014159.7(SETD2):c.2028del (p.Pro677fs) |
deletion |
Pathogenic |
222956 |
rs869025572 |
3:47164098-47164098 |
3:47122608-47122608 |
6 |
SETD2 |
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) |
SNV |
Pathogenic/Likely pathogenic |
388568 |
rs1057523157 |
3:47129662-47129662 |
3:47088172-47088172 |
7 |
SETD2 |
NM_014159.7(SETD2):c.2251C>A (p.Pro751Thr) |
SNV |
Conflicting interpretations of pathogenicity |
135220 |
rs115788094 |
3:47163875-47163875 |
3:47122385-47122385 |
8 |
SETD2 |
NM_014159.7(SETD2):c.5900G>A (p.Gly1967Asp) |
SNV |
Conflicting interpretations of pathogenicity |
135204 |
rs143991928 |
3:47125370-47125370 |
3:47083880-47083880 |
9 |
SETD2 |
NM_014159.7(SETD2):c.2155A>G (p.Asn719Asp) |
SNV |
Conflicting interpretations of pathogenicity |
135211 |
rs115859828 |
3:47163971-47163971 |
3:47122481-47122481 |
10 |
SETD2 |
NM_014159.7(SETD2):c.2819G>T (p.Gly940Val) |
SNV |
Conflicting interpretations of pathogenicity |
574593 |
rs751707090 |
3:47163307-47163307 |
3:47121817-47121817 |
11 |
SETD2 |
NM_014159.7(SETD2):c.1414C>T (p.Arg472Cys) |
SNV |
Conflicting interpretations of pathogenicity |
580050 |
rs771203643 |
3:47164712-47164712 |
3:47123222-47123222 |
12 |
SETD2 |
NM_014159.7(SETD2):c.3371C>T (p.Ala1124Val) |
SNV |
Conflicting interpretations of pathogenicity |
521888 |
rs538871720 |
3:47162755-47162755 |
3:47121265-47121265 |
13 |
SETD2 |
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter) |
SNV |
Conflicting interpretations of pathogenicity |
521678 |
rs541943893 |
3:47205396-47205396 |
3:47163906-47163906 |
14 |
SETD2 |
NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu) |
SNV |
Conflicting interpretations of pathogenicity |
542227 |
rs145650484 |
3:47164241-47164241 |
3:47122751-47122751 |
15 |
SETD2 |
NM_014159.7(SETD2):c.676C>G (p.Pro226Ala) |
SNV |
Uncertain significance |
542220 |
rs780963440 |
3:47165450-47165450 |
3:47123960-47123960 |
16 |
SETD2 |
NM_014159.7(SETD2):c.148G>A (p.Ala50Thr) |
SNV |
Uncertain significance |
542232 |
rs191985301 |
3:47165978-47165978 |
3:47124488-47124488 |
17 |
SETD2 |
NM_014159.7(SETD2):c.538T>G (p.Ser180Ala) |
SNV |
Uncertain significance |
542229 |
rs1318754770 |
3:47165588-47165588 |
3:47124098-47124098 |
18 |
SETD2 |
NM_014159.7(SETD2):c.4928A>G (p.Asn1643Ser) |
SNV |
Uncertain significance |
542224 |
rs1553694843 |
3:47143035-47143035 |
3:47101545-47101545 |
19 |
SETD2 |
NM_014159.7(SETD2):c.2822A>G (p.Lys941Arg) |
SNV |
Uncertain significance |
542222 |
rs1398213134 |
3:47163304-47163304 |
3:47121814-47121814 |
20 |
SETD2 |
NM_014159.7(SETD2):c.4093G>A (p.Gly1365Arg) |
SNV |
Uncertain significance |
542233 |
rs772882978 |
3:47162033-47162033 |
3:47120543-47120543 |
21 |
SETD2 |
NM_014159.7(SETD2):c.2959G>A (p.Gly987Arg) |
SNV |
Uncertain significance |
542221 |
rs759593227 |
3:47163167-47163167 |
3:47121677-47121677 |
22 |
SETD2 |
NM_014159.7(SETD2):c.2224T>G (p.Ser742Ala) |
SNV |
Uncertain significance |
542219 |
rs774644234 |
3:47163902-47163902 |
3:47122412-47122412 |
23 |
SETD2 |
NM_014159.7(SETD2):c.5942A>G (p.Gln1981Arg) |
SNV |
Uncertain significance |
542223 |
rs189529024 |
3:47125328-47125328 |
3:47083838-47083838 |
24 |
SETD2 |
NM_014159.7(SETD2):c.5870A>G (p.Asp1957Gly) |
SNV |
Uncertain significance |
542228 |
rs1553690289 |
3:47125400-47125400 |
3:47083910-47083910 |
25 |
SETD2 |
NM_014159.7(SETD2):c.4121G>A (p.Ser1374Asn) |
SNV |
Uncertain significance |
542218 |
rs762222123 |
3:47162005-47162005 |
3:47120515-47120515 |
26 |
SETD2 |
NM_014159.7(SETD2):c.2647C>T (p.Leu883Phe) |
SNV |
Uncertain significance |
542231 |
rs1269748231 |
3:47163479-47163479 |
3:47121989-47121989 |
27 |
SETD2 |
NM_014159.7(SETD2):c.6119G>C (p.Arg2040Pro) |
SNV |
Uncertain significance |
542230 |
rs1244929991 |
3:47103827-47103827 |
3:47062337-47062337 |
28 |
SETD2 |
NM_014159.7(SETD2):c.6455A>G (p.Tyr2152Cys) |
SNV |
Uncertain significance |
475532 |
rs139628048 |
3:47098819-47098819 |
3:47057329-47057329 |
29 |
SETD2 |
NM_014159.7(SETD2):c.6241C>T (p.Leu2081Phe) |
SNV |
Uncertain significance |
475531 |
rs1553685117 |
3:47103705-47103705 |
3:47062215-47062215 |
30 |
SETD2 |
NM_014159.7(SETD2):c.3582A>G (p.Ile1194Met) |
SNV |
Uncertain significance |
475515 |
rs1211620525 |
3:47162544-47162544 |
3:47121054-47121054 |
31 |
SETD2 |
NM_014159.7(SETD2):c.4027C>A (p.Gln1343Lys) |
SNV |
Uncertain significance |
450584 |
rs781672875 |
3:47162099-47162099 |
3:47120609-47120609 |
32 |
SETD2 |
NM_014159.7(SETD2):c.6614A>G (p.His2205Arg) |
SNV |
Uncertain significance |
475533 |
rs746404627 |
3:47098660-47098660 |
3:47057170-47057170 |
33 |
SETD2 |
NM_014159.7(SETD2):c.4344C>G (p.Ser1448=) |
SNV |
Uncertain significance |
475518 |
rs992969331 |
3:47161782-47161782 |
3:47120292-47120292 |
34 |
SETD2 |
NM_014159.7(SETD2):c.1928A>G (p.His643Arg) |
SNV |
Uncertain significance |
475497 |
rs776293901 |
3:47164198-47164198 |
3:47122708-47122708 |
35 |
SETD2 |
NM_014159.7(SETD2):c.3361G>A (p.Ala1121Thr) |
SNV |
Uncertain significance |
475509 |
rs1336548478 |
3:47162765-47162765 |
3:47121275-47121275 |
36 |
SETD2 |
NM_014159.7(SETD2):c.2515A>G (p.Arg839Gly) |
SNV |
Uncertain significance |
475500 |
rs1441287639 |
3:47163611-47163611 |
3:47122121-47122121 |
37 |
SETD2 |
NM_014159.7(SETD2):c.2299A>G (p.Thr767Ala) |
SNV |
Uncertain significance |
475499 |
rs564476604 |
3:47163827-47163827 |
3:47122337-47122337 |
38 |
SETD2 |
NM_014159.7(SETD2):c.26C>T (p.Pro9Leu) |
SNV |
Uncertain significance |
475501 |
rs1553707534 |
3:47205389-47205389 |
3:47163899-47163899 |
39 |
SETD2 |
NM_014159.7(SETD2):c.1610T>G (p.Leu537Arg) |
SNV |
Uncertain significance |
475495 |
rs753117350 |
3:47164516-47164516 |
3:47123026-47123026 |
40 |
SETD2 |
NM_014159.7(SETD2):c.4487G>A (p.Arg1496Gln) |
SNV |
Uncertain significance |
475519 |
rs1553699111 |
3:47158212-47158212 |
3:47116722-47116722 |
41 |
SETD2 |
NM_014159.7(SETD2):c.2702G>C (p.Gly901Ala) |
SNV |
Uncertain significance |
475502 |
rs1194240525 |
3:47163424-47163424 |
3:47121934-47121934 |
42 |
SETD2 |
NM_014159.7(SETD2):c.920C>A (p.Ser307Tyr) |
SNV |
Uncertain significance |
583033 |
rs1303561180 |
3:47165206-47165206 |
3:47123716-47123716 |
43 |
SETD2 |
NM_014159.7(SETD2):c.94A>G (p.Ile32Val) |
SNV |
Uncertain significance |
579178 |
rs1170321784 |
3:47166032-47166032 |
3:47124542-47124542 |
44 |
SETD2 |
NM_014159.6(SETD2):c.7350+6T>C |
SNV |
Uncertain significance |
578649 |
rs369951554 |
3:47079150-47079150 |
3:47037660-47037660 |
45 |
SETD2 |
NM_014159.7(SETD2):c.1103G>A (p.Arg368Gln) |
SNV |
Uncertain significance |
574938 |
rs1385695873 |
3:47165023-47165023 |
3:47123533-47123533 |
46 |
SETD2 |
NM_014159.7(SETD2):c.5900G>C (p.Gly1967Ala) |
SNV |
Uncertain significance |
567605 |
rs143991928 |
3:47125370-47125370 |
3:47083880-47083880 |
47 |
SETD2 |
NM_014159.7(SETD2):c.5202G>C (p.Gln1734His) |
SNV |
Uncertain significance |
577762 |
rs141847082 |
3:47129678-47129678 |
3:47088188-47088188 |
48 |
SETD2 |
NM_014159.7(SETD2):c.2507G>A (p.Cys836Tyr) |
SNV |
Uncertain significance |
571253 |
rs1559745772 |
3:47163619-47163619 |
3:47122129-47122129 |
49 |
SETD2 |
NM_014159.7(SETD2):c.2894A>G (p.Glu965Gly) |
SNV |
Uncertain significance |
582921 |
rs781662505 |
3:47163232-47163232 |
3:47121742-47121742 |
50 |
SETD2 |
NM_014159.7(SETD2):c.2942T>C (p.Leu981Ser) |
SNV |
Uncertain significance |
542226 |
rs200569407 |
3:47163184-47163184 |
3:47121694-47121694 |