1 |
SETD2 |
NM_014159.7(SETD2):c.820C>T (p.Gln274Ter) |
SNV |
Pathogenic |
222955 |
rs869025571 |
3:47165306-47165306 |
3:47123816-47123816 |
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.2028del (p.Pro677fs) |
Deletion |
Pathogenic |
222956 |
rs869025572 |
3:47164098-47164098 |
3:47122608-47122608 |
4 |
SETD2 |
NM_014159.7(SETD2):c.4997A>G (p.Tyr1666Cys) |
SNV |
Pathogenic |
632591 |
rs1559720382 |
3:47142966-47142966 |
3:47101476-47101476 |
5 |
SETD2 |
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) |
SNV |
Pathogenic |
388568 |
rs1057523157 |
3:47129662-47129662 |
3:47088172-47088172 |
6 |
SETD2 |
NM_014159.7(SETD2):c.3671dup (p.Asn1224fs) |
Duplication |
Pathogenic |
958870 |
|
3:47162454-47162455 |
3:47120964-47120965 |
7 |
SETD2 |
NM_014159.7(SETD2):c.5761G>T (p.Glu1921Ter) |
SNV |
Pathogenic |
976776 |
|
3:47125509-47125509 |
3:47084019-47084019 |
8 |
SETD2 |
NM_014159.7(SETD2):c.5444T>G (p.Leu1815Trp) |
SNV |
Pathogenic |
222954 |
rs869025570 |
3:47125826-47125826 |
3:47084336-47084336 |
9 |
SETD2 |
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) |
SNV |
Likely pathogenic |
388568 |
rs1057523157 |
3:47129662-47129662 |
3:47088172-47088172 |
10 |
SETD2 |
NM_014159.7(SETD2):c.2155A>G (p.Asn719Asp) |
SNV |
Conflicting interpretations of pathogenicity |
135211 |
rs115859828 |
3:47163971-47163971 |
3:47122481-47122481 |
11 |
SETD2 |
NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu) |
SNV |
Conflicting interpretations of pathogenicity |
542227 |
rs145650484 |
3:47164241-47164241 |
3:47122751-47122751 |
12 |
SETD2 |
NM_014159.7(SETD2):c.148G>A (p.Ala50Thr) |
SNV |
Conflicting interpretations of pathogenicity |
542232 |
rs191985301 |
3:47165978-47165978 |
3:47124488-47124488 |
13 |
SETD2 |
NM_014159.7(SETD2):c.1414C>T (p.Arg472Cys) |
SNV |
Conflicting interpretations of pathogenicity |
580050 |
rs771203643 |
3:47164712-47164712 |
3:47123222-47123222 |
14 |
SETD2 |
NM_014159.7(SETD2):c.4757A>G (p.His1586Arg) |
SNV |
Uncertain significance |
977490 |
|
3:47147569-47147569 |
3:47106079-47106079 |
15 |
SETD2 |
NM_014159.7(SETD2):c.6179C>T (p.Ser2060Leu) |
SNV |
Uncertain significance |
931690 |
|
3:47103767-47103767 |
3:47062277-47062277 |
16 |
SETD2 |
NM_014159.7(SETD2):c.5887A>G (p.Lys1963Glu) |
SNV |
Uncertain significance |
960032 |
|
3:47125383-47125383 |
3:47083893-47083893 |
17 |
SETD2 |
NM_014159.7(SETD2):c.6293+9C>T |
SNV |
Uncertain significance |
960555 |
|
3:47103644-47103644 |
3:47062154-47062154 |
18 |
SETD2 |
NM_014159.7(SETD2):c.775A>G (p.Ile259Val) |
SNV |
Uncertain significance |
961459 |
|
3:47165351-47165351 |
3:47123861-47123861 |
19 |
SETD2 |
NM_014159.7(SETD2):c.6664C>T (p.Pro2222Ser) |
SNV |
Uncertain significance |
135207 |
rs587778666 |
3:47098610-47098610 |
3:47057120-47057120 |
20 |
SETD2 |
NM_014159.7(SETD2):c.3936A>G (p.Arg1312=) |
SNV |
Uncertain significance |
961931 |
|
3:47162190-47162190 |
3:47120700-47120700 |
21 |
SETD2 |
NM_014159.7(SETD2):c.6979A>G (p.Ser2327Gly) |
SNV |
Uncertain significance |
963525 |
|
3:47088096-47088096 |
3:47046606-47046606 |
22 |
SETD2 |
NM_014159.7(SETD2):c.1523G>T (p.Gly508Val) |
SNV |
Uncertain significance |
965125 |
|
3:47164603-47164603 |
3:47123113-47123113 |
23 |
SETD2 |
NM_014159.7(SETD2):c.3038A>G (p.Asp1013Gly) |
SNV |
Uncertain significance |
966476 |
|
3:47163088-47163088 |
3:47121598-47121598 |
24 |
SETD2 |
NM_014159.7(SETD2):c.1769T>C (p.Leu590Ser) |
SNV |
Uncertain significance |
967019 |
|
3:47164357-47164357 |
3:47122867-47122867 |
25 |
SETD2 |
NM_014159.7(SETD2):c.6760G>A (p.Val2254Ile) |
SNV |
Uncertain significance |
967489 |
|
3:47098514-47098514 |
3:47057024-47057024 |
26 |
SETD2 |
NM_014159.7(SETD2):c.6479C>T (p.Pro2160Leu) |
SNV |
Uncertain significance |
967738 |
|
3:47098795-47098795 |
3:47057305-47057305 |
27 |
SETD2 |
NM_014159.7(SETD2):c.3681T>G (p.Asp1227Glu) |
SNV |
Uncertain significance |
971957 |
|
3:47162445-47162445 |
3:47120955-47120955 |
28 |
SETD2 |
NM_014159.7(SETD2):c.4856A>T (p.Gln1619Leu) |
SNV |
Uncertain significance |
976291 |
|
3:47144897-47144897 |
3:47103407-47103407 |
29 |
SETD2 |
NM_014159.7(SETD2):c.1199G>A (p.Arg400Gln) |
SNV |
Uncertain significance |
933265 |
|
3:47164927-47164927 |
3:47123437-47123437 |
30 |
SETD2 |
NM_014159.7(SETD2):c.5567A>G (p.Asn1856Ser) |
SNV |
Uncertain significance |
933390 |
|
3:47125703-47125703 |
3:47084213-47084213 |
31 |
SETD2 |
NM_014159.7(SETD2):c.2192A>G (p.Asp731Gly) |
SNV |
Uncertain significance |
933461 |
|
3:47163934-47163934 |
3:47122444-47122444 |
32 |
SETD2 |
NM_014159.7(SETD2):c.1369G>A (p.Glu457Lys) |
SNV |
Uncertain significance |
933963 |
|
3:47164757-47164757 |
3:47123267-47123267 |
33 |
SETD2 |
NM_014159.7(SETD2):c.7142C>A (p.Pro2381His) |
SNV |
Uncertain significance |
936038 |
|
3:47084147-47084147 |
3:47042657-47042657 |
34 |
SETD2 |
NM_014159.7(SETD2):c.2155A>C (p.Asn719His) |
SNV |
Uncertain significance |
936106 |
|
3:47163971-47163971 |
3:47122481-47122481 |
35 |
SETD2 |
NM_014159.7(SETD2):c.7048G>T (p.Ala2350Ser) |
SNV |
Uncertain significance |
936663 |
|
3:47088027-47088027 |
3:47046537-47046537 |
36 |
SETD2 |
NM_014159.7(SETD2):c.3788C>G (p.Ser1263Cys) |
SNV |
Uncertain significance |
937301 |
|
3:47162338-47162338 |
3:47120848-47120848 |
37 |
SETD2 |
NM_014159.7(SETD2):c.3661A>G (p.Thr1221Ala) |
SNV |
Uncertain significance |
938880 |
|
3:47162465-47162465 |
3:47120975-47120975 |
38 |
SETD2 |
NM_014159.7(SETD2):c.7660G>A (p.Val2554Ile) |
SNV |
Uncertain significance |
939173 |
|
3:47058618-47058618 |
3:47017128-47017128 |
39 |
SETD2 |
NM_014159.7(SETD2):c.4220G>T (p.Arg1407Met) |
SNV |
Uncertain significance |
939395 |
|
3:47161906-47161906 |
3:47120416-47120416 |
40 |
SETD2 |
NM_014159.7(SETD2):c.1590T>G (p.Cys530Trp) |
SNV |
Uncertain significance |
941321 |
|
3:47164536-47164536 |
3:47123046-47123046 |
41 |
SETD2 |
NM_014159.7(SETD2):c.3475G>A (p.Glu1159Lys) |
SNV |
Uncertain significance |
942359 |
|
3:47162651-47162651 |
3:47121161-47121161 |
42 |
SETD2 |
NM_014159.7(SETD2):c.2813A>G (p.Asp938Gly) |
SNV |
Uncertain significance |
942892 |
|
3:47163313-47163313 |
3:47121823-47121823 |
43 |
SETD2 |
NM_014159.7(SETD2):c.2716C>T (p.Pro906Ser) |
SNV |
Uncertain significance |
942893 |
|
3:47163410-47163410 |
3:47121920-47121920 |
44 |
SETD2 |
NM_014159.7(SETD2):c.523G>T (p.Ala175Ser) |
SNV |
Uncertain significance |
943311 |
|
3:47165603-47165603 |
3:47124113-47124113 |
45 |
SETD2 |
NM_014159.7(SETD2):c.4683C>T (p.Gly1561=) |
SNV |
Uncertain significance |
944059 |
|
3:47155398-47155398 |
3:47113908-47113908 |
46 |
SETD2 |
NM_014159.7(SETD2):c.2993T>G (p.Val998Gly) |
SNV |
Uncertain significance |
944455 |
|
3:47163133-47163133 |
3:47121643-47121643 |
47 |
SETD2 |
NM_014159.7(SETD2):c.1661G>A (p.Arg554His) |
SNV |
Uncertain significance |
944637 |
|
3:47164465-47164465 |
3:47122975-47122975 |
48 |
SETD2 |
NM_014159.7(SETD2):c.1745T>C (p.Ile582Thr) |
SNV |
Uncertain significance |
944638 |
|
3:47164381-47164381 |
3:47122891-47122891 |
49 |
SETD2 |
NM_014159.7(SETD2):c.2417A>C (p.Asn806Thr) |
SNV |
Uncertain significance |
945942 |
|
3:47163709-47163709 |
3:47122219-47122219 |
50 |
SETD2 |
NM_014159.7(SETD2):c.5906A>G (p.Lys1969Arg) |
SNV |
Uncertain significance |
946181 |
|
3:47125364-47125364 |
3:47083874-47083874 |