ZMYM2
| ACGC_2363 | chr13: 20580517-20580517 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.C1303T c.C1303T c.C1303T c.C1303T | p.R435C p.R435C p.R435C p.R435C | 23.9 | - | Wang2020
T
| |
ZMYM2
| SAGE_BK_627.02 | chr13: 20632842-20632842 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.C2621T c.C2621T c.C2621T c.C2621T | p.T874I p.T874I p.T874I p.T874I | 25.1 | - | Wang2020
T
| |
ZMYM2
| SAGE_555.03 | chr13: 20660089-20660089 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.C4069T c.C4069T c.C4069T c.C4069T | p.R1357W p.R1357W p.R1357W p.R1357W | 20.5 | 8.302E-6 | Wang2020
T
| |
ZMYM2
| SMHC01629s000 | chr13: 20632803-20632803 | C | CT | exonic | | De novo | frameshift insertion | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.2583dupT c.2583dupT c.2583dupT c.2583dupT | p.T861fs p.T861fs p.T861fs p.T861fs | - | - | Yuan2023
E
| |
ZMYM2
| mAGRE1643 | chr13: 20657897-20657897 | G | T | exonic | | Maternal | stopgain | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.G3922T c.G3922T c.G3922T c.G3922T | p.E1308X p.E1308X p.E1308X p.E1308X | 41.0 | - | Cirnigliaro2023
G
| |
ZMYM2
| mAGRE1641 | chr13: 20657897-20657897 | G | T | exonic | | Maternal | stopgain | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.G3922T c.G3922T c.G3922T c.G3922T | p.E1308X p.E1308X p.E1308X p.E1308X | 41.0 | - | Cirnigliaro2023
G
| |
ZMYM2
| A10 | chr13: 20550001-20550001 | A | T | intronic | | De novo | | | | | - | - | Wu2018
G
| |
ZMYM2
| 1-0051-005 | chr13: 20570559-20570559 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
ZMYM2
| SF0127162.p1 | chr13: 20656987-20656987 | C | T | exonic | | | nonsynonymous SNV | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.C3635T c.C3635T c.C3635T c.C3635T | p.P1212L p.P1212L p.P1212L p.P1212L | 24.7 | - | Wang2020
T
| |
ZMYM2
| SF0004234.p1 | chr13: 20580618-20580619 | AC | A | exonic | | | frameshift deletion | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.1405delC c.1405delC c.1405delC c.1405delC | p.Q469fs p.Q469fs p.Q469fs p.Q469fs | - | - | Wang2020
T
| |
ZMYM2
| SP0004234 | chr13: 20580618-20580619 | AC | A | exonic | | De novo | frameshift deletion | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.1405delC c.1405delC c.1405delC c.1405delC | p.Q469fs p.Q469fs p.Q469fs p.Q469fs | - | - | Antaki2022
GE
Fu2022
E
Trost2022
G
Zhou2022
GE
| |
ZMYM2
| 1-0350-003 | chr13: 20641159-20641163 | TGTAA | T | splicing | | De novo | splicing | | | | - | 8.711E-6 | Trost2022
G
Zhou2022
GE
| |
ZMYM2
| 7-0253-004 |
Complex Event; expand row to view variants | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
ZMYM2
| SD0079.p1 | chr13: 20605532-20605532 | G | C | exonic | | Unknown | nonsynonymous SNV | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.G1925C c.G1925C c.G1925C c.G1925C | p.C642S p.C642S p.C642S p.C642S | 31.0 | - | Guo2018
T
| |
ZMYM2
| Gecz2_28984 | chr13: 20567845-20567846 | CT | C | exonic | | Unknown | stopgain | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.634delT c.634delT c.634delT c.634delT | p.L212X p.L212X p.L212X p.L212X | - | - | Wang2020
T
| |
ZMYM2
| 1-0957-003 | chr13: 20646772-20646776 | GAATT | TG | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ZMYM2
| 7-0273-003 | chr13: 20672181-20672181 | C | G | intergenic | | De novo | | | | | - | - | Yuen2017
G
| |
ZMYM2
| Gecz2_28983 | chr13: 20567845-20567846 | CT | C | exonic | | Unknown | stopgain | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.634delT c.634delT c.634delT c.634delT | p.L212X p.L212X p.L212X p.L212X | - | - | Wang2020
T
| |
ZMYM2
| 3-0497-001 | chr13: 20657234-20657234 | C | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ZMYM2
| SP0173689 | chr13: 20635288-20635288 | T | G | exonic | | De novo | synonymous SNV | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.T2835G c.T2835G c.T2835G c.T2835G | p.A945A p.A945A p.A945A p.A945A | - | - | Trost2022
G
| |
ZMYM2
| TASC_211-5312-3 | chr13: 20641159-20641163 | TGTAA | T | splicing | | Unknown | splicing | | | | - | 8.711E-6 | Wang2020
T
| |
ZMYM2
| 3-0117-000 | chr13: 20645239-20645239 | T | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ZMYM2
| 09C95788 | chr13: 20641159-20641163 | TGTAA | T | splicing | | De novo | splicing | | | | - | 8.711E-6 | Neale2012
E
O’Roak2014
T
Willsey2013
E
| |
ZMYM2
| MT_181.3 | chr13: 20612943-20612943 | T | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ZMYM2
| Wang2023:245 | chr13: 20638671-20638671 | C | T | exonic | | De novo | stopgain | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.C3118T c.C3118T c.C3118T c.C3118T | p.R1040X p.R1040X p.R1040X p.R1040X | 42.0 | - | Wang2023
E
| |
ZMYM2
| SP0252978 | chr13: 20635143-20635143 | A | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ZMYM2
| Gecz3_42150 | chr13: 20567845-20567846 | CT | C | exonic | | Unknown | stopgain | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.634delT c.634delT c.634delT c.634delT | p.L212X p.L212X p.L212X p.L212X | - | - | Wang2020
T
| |
ZMYM2
| 2-1493-003 | chr13: 20581394-20581394 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
ZMYM2
| MSSNG00369-005 | chr13: 20608468-20608468 | C | T | exonic | | De novo | synonymous SNV | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.C2043T c.C2043T c.C2043T c.C2043T | p.C681C p.C681C p.C681C p.C681C | - | 2.489E-5 | Trost2022
G
| |
ZMYM2
| 09C81985 | chr13: 20641159-20641163 | TGTAA | T | splicing | | De novo | splicing | | | | - | 8.711E-6 | Fu2022
E
| |
ZMYM2
| SP0127162 | chr13: 20656987-20656987 | C | T | exonic | | De novo | nonsynonymous SNV | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.C3635T c.C3635T c.C3635T c.C3635T | p.P1212L p.P1212L p.P1212L p.P1212L | 24.7 | - | Fu2022
E
Zhou2022
GE
| |
ZMYM2
| 211-5312-3 | chr13: 20641160-20641164 | GTAAG | G | splicing | | Inherited | splicing | | | | - | - | Stessman2017
T
| |
ZMYM2
| iHART1641 | chr13: 20657897-20657897 | G | T | exonic | | Maternal | stopgain | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.G3922T c.G3922T c.G3922T c.G3922T | p.E1308X p.E1308X p.E1308X p.E1308X | 41.0 | - | Ruzzo2019
G
| |
ZMYM2
| Leuven2_86150547 | chr13: 20567402-20567402 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.G190A c.G190A c.G190A c.G190A | p.E64K p.E64K p.E64K p.E64K | 25.3 | - | Wang2020
T
| |
ZMYM2
| TRE_2761 | chr13: 20608530-20608531 | CT | C | exonic | | De novo | frameshift deletion | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.2106delT c.2106delT c.2106delT c.2106delT | p.P702fs p.P702fs p.P702fs p.P702fs | - | - | Fu2022
E
| |
ZMYM2
| SP0055384 | chr13: 20657000-20657000 | G | C | exonic | | De novo | synonymous SNV | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.G3648C c.G3648C c.G3648C c.G3648C | p.L1216L p.L1216L p.L1216L p.L1216L | - | - | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
ZMYM2
| iHART1643 | chr13: 20657897-20657897 | G | T | exonic | | Maternal | stopgain | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.G3922T c.G3922T c.G3922T c.G3922T | p.E1308X p.E1308X p.E1308X p.E1308X | 41.0 | - | Ruzzo2019
G
| |
ZMYM2
| Leuven_389279 | chr13: 20593739-20593739 | C | CTA | exonic | | Unknown | frameshift insertion | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.1565_1566insTA c.1565_1566insTA c.1565_1566insTA c.1565_1566insTA | p.S522fs p.S522fs p.S522fs p.S522fs | - | - | Wang2020
T
| |
ZMYM2
| AU4154303 | chr13: 20647709-20647709 | G | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
ZMYM2
| Leuven_388861 | chr13: 20638676-20638677 | TA | T | exonic | | Unknown | frameshift deletion | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.3124delA c.3124delA c.3124delA c.3124delA | p.K1042fs p.K1042fs p.K1042fs p.K1042fs | - | 7.0E-4 | Wang2020
T
| |
ZMYM2
| ITAN_2761 | chr13: 20608530-20608531 | CT | C | exonic | | De novo | frameshift deletion | NM_001190965 NM_197968 NM_001190964 NM_003453 | c.2106delT c.2106delT c.2106delT c.2106delT | p.P702fs p.P702fs p.P702fs p.P702fs | - | - | Wang2020
T
| |