SHANK2
| 2-1129-003 |
Complex Event; expand row to view variants | | De novo | | | | | - | - | Trost2022
G
Yuen2016
G
Yuen2017
G
| |
| SHANK2
| 1-0677-003 | chr11:
70380022-70380022 | C | G | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| 7-0174-003 | chr11:
71018656-71018656 | T | G | intergenic | | De novo | | | | | - | - | Yuen2017
G
| |
| SHANK2
| 1-0253-004 | chr11:
70380896-70380896 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| 1-0530-003 | chr11:
71034073-71034073 | G | A | intergenic | | De novo | | | | | - | - | Yuen2016
G
Yuen2017
G
| |
| SHANK2
| 12380.p1 | chr11:
70332092-70332094 | CTG | C | exonic | | Unknown, De novo | frameshift deletion | NM_133266 | c.2540_2541del | p.S847fs | - | - | Iossifov2014
E
Ji2016
E
Kosmicki2017
E
Satterstrom2020
E
Trost2022
G
Wang2020
T
Wilfert2021
G
Willsey2013
E
Zhou2022
GE
| |
| SHANK2
| 1-0169-004 | chr11:
70515179-70515179 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| 2-1391-004 | chr11:
70445947-70445948 | AG | A | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
| SHANK2
| 74-0115 | chr11:
71103740-71103740 | A | C | intergenic | | De novo | | | | | - | - | Michaelson2012
G
| |
| SHANK2
| 3-0456-000 | chr11:
70544556-70544556 | C | T | intronic | | De novo | | | | | - | - | Yuen2016
G
Yuen2017
G
| |
| SHANK2
| AU071703 | chr11:
70803515-70803515 | C | T | exonic | | Unknown | unknown | | | | 24.6 | 4.601E-5 | Stessman2017
T
| |
| SHANK2
| AU054304 | chr11:
70769891-70769891 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| Wright2024:Par1703 | chr11:
70338445-70338446 | TG | T | exonic | | De novo | frameshift deletion | NM_133266 | c.669delC | p.D223fs | - | - | Wright2024
E
| |
| SHANK2
| ACGC_M15036 | chr11:
70332552-70332552 | G | A | exonic | | Unknown | synonymous SNV | NM_133266 | c.C2082T | p.Y694Y | - | 3.298E-5 | Wang2020
T
| |
| SHANK2
| AU2075301 | chr11:
70799643-70799643 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| Leuven2_60356400 | chr11:
70666548-70666548 | G | A | exonic | | Unknown | unknown | | | | 17.19 | - | Wang2020
T
| |
| SHANK2
| Leuven_405458 | chr11:
70666548-70666548 | G | A | exonic | | Unknown | unknown | | | | 17.19 | - | Wang2020
T
| |
| SHANK2
| 1-0075-003 | chr11:
70697001-70697001 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| PN400501 | chr11:
70644619-70644619 | C | T | exonic | | Unknown | unknown | | | | 24.2 | 0.0049 | Leblond2019
E
| |
| SHANK2
| AGRE_AU071703 | chr11:
70803515-70803515 | C | T | exonic | | Unknown | unknown | | | | 24.6 | 4.601E-5 | Wang2020
T
| |
| SHANK2
| AGRE_03C16378 | chr11:
70803515-70803515 | C | T | exonic | | Unknown | unknown | | | | 24.6 | 4.601E-5 | Wang2020
T
| |
| SHANK2
| 2-0298-003 | chr11:
70377333-70377333 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| 1-0455-004 | chr11:
70330136-70330136 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| M03813 | chr11:
70332898-70332898 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_133266 | c.G1736A | p.G579D | 3.12 | - | Guo2018
T
| |
| SHANK2
| 3-0456-000B | chr11:
70544556-70544556 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| M19664 | chr11:
70821045-70821045 | C | A | exonic | | Maternal | unknown | | | | 12.27 | - | Guo2018
T
| |
| SHANK2
| M08314 | chr11:
70803628-70803628 | A | G | exonic | | Maternal | unknown | | | | 15.42 | - | Guo2018
T
| |
| SHANK2
| M20738 | chr11:
70824391-70824391 | A | A/G | exonic | | Maternal | | | | | - | - | Guo2018
T
| |
| SHANK2
| M23679 | chr11:
70336459-70336459 | T | G | exonic | | Maternal | nonsynonymous SNV | NM_133266 | c.A709C | p.T237P | 9.687 | - | Guo2018
T
| |
| SHANK2
| TASC_211-5435-4 | chr11:
70666749-70666749 | G | A | exonic | | Unknown | unknown | | | | 18.94 | - | Wang2020
T
| |
| SHANK2
| M16089 | chr11:
70333178-70333178 | C | T | exonic | | Maternal | nonsynonymous SNV | NM_133266 | c.G1456A | p.V486I | 11.88 | 3.471E-5 | Guo2018
T
| |
| SHANK2
| Leuven_299053 | chr11:
70666749-70666749 | G | A | exonic | | Unknown | unknown | | | | 18.94 | - | Wang2020
T
| |
| SHANK2
| M08485 | chr11:
70346692-70346692 | G | A | exonic | | Maternal | nonsynonymous SNV | NM_133266 | c.C527T | p.S176L | 17.49 | - | Guo2018
T
| |
| SHANK2
| M08515 | chr11:
70336459-70336459 | T | G | exonic | | Maternal | nonsynonymous SNV | NM_133266 | c.A709C | p.T237P | 9.687 | - | Guo2018
T
| |
| SHANK2
| ACGC_HN0112.p1 | chr11:
70507786-70507786 | G | C | exonic | | De novo | stopgain | NM_133266 | c.C87G | p.Y29X | 37.0 | - | Wang2020
T
| |
| SHANK2
| 2-1207-003 | chr11:
70716492-70716492 | G | A | intronic | | De novo | | | | | - | - | Yuen2016
G
Yuen2017
G
| |
| SHANK2
| Gecz4_48759 | chr11:
70805627-70805627 | C | T | exonic | | Unknown | unknown | | | | 20.2 | - | Wang2020
T
| |
| SHANK2
| ACGC_HEN0171.p1 | chr11:
70805627-70805627 | C | T | exonic | | Unknown | unknown | | | | 20.2 | - | Wang2020
T
| |
| SHANK2
| Wright2024:Par1828 | chr11:
70333009-70333011 | CCC | C | exonic | | Unknown | frameshift deletion | NM_133266 | c.1623_1624del | p.E541fs | - | - | Wright2024
E
| |
| SHANK2
| 108070-100 | chr11:
70803488-70803488 | C | G | exonic | | Unknown | unknown | | | | 26.2 | - | Stessman2017
T
| |
| SHANK2
| 2-0198-003 | chr11:
70568291-70568291 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| 2-1131-003 | chr11:
71114941-71114941 | C | G | intergenic | | De novo | | | | | - | - | Yuen2017
G
| |
| SHANK2
| 2-0299-003 | chr11:
70512026-70512026 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| HN0074.p1 | chr11:
70332443-70332443 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_133266 | c.G2191A | p.V731M | 17.17 | 8.24E-6 | Guo2018
T
| |
| SHANK2
| GX0325.p1 | chr11:
70336401-70336401 | A | G | exonic | | Paternal | nonsynonymous SNV | NM_133266 | c.T767C | p.M256T | 15.98 | 8.243E-6 | Guo2018
T
| |
| SHANK2
| HN0037.p1 | chr11:
70332912-70332912 | C | G | exonic | | Paternal | nonsynonymous SNV | NM_133266 | c.G1722C | p.E574D | 6.322 | - | Guo2018
T
| |
| SHANK2
| Leuven_305385 | chr11:
70505962-70505962 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_133266 | c.G268A | p.G90R | 32.0 | 1.65E-5 | Wang2020
T
| |
| SHANK2
| 1-0277-003 | chr11:
70319333-70319333 | C | T | exonic | | De novo | nonsynonymous SNV | NM_133266 | c.G3427A | p.A1143T | 7.19 | - | Wang2020
T
Yuen2017
G
Zhou2022
GE
| |
| SHANK2
| PN400483 | chr11:
70644619-70644619 | C | T | exonic | | Unknown | unknown | | | | 24.2 | 0.0049 | Leblond2019
E
| |
| SHANK2
| GX0441.p1 | chr11:
70821058-70821058 | C | C/T | exonic | | Paternal | | | | | - | - | Guo2018
T
| |
| SHANK2
| AGRE_AU1644303 | chr11:
70805647-70805647 | C | T | exonic | | Unknown | unknown | | | | 27.3 | 4.604E-5 | Wang2020
T
| |
| SHANK2
| AGRE_AU1181303 | chr11:
70348922-70348922 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_133266 | c.G412A | p.D138N | 22.5 | 8.332E-6 | Wang2020
T
| |
| SHANK2
| AGRE_03C16187 | chr11:
70348919-70348919 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_133266 | c.G415A | p.D139N | 18.89 | 8.389E-6 | Wang2020
T
| |
| SHANK2
| 1-0104-003 | chr11:
70914484-70914492 | ATAAAGGGT | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| M32019 | chr11:
70666515-70666515 | C | C/T | exonic | | Paternal | | | | | - | - | Guo2018
T
| |
| SHANK2
| ACGC_HEN0059.p1 | chr11:
70332687-70332688 | CT | C | exonic | | Unknown | frameshift deletion | NM_133266 | c.1946delA | p.E649fs | - | - | Wang2020
T
| |
| SHANK2
| GX0409.p1 | chr11:
70507869-70507869 | T | C | exonic | | Paternal | nonsynonymous SNV | NM_133266 | c.A4G | p.M2V | 15.77 | - | Guo2018
T
| |
| SHANK2
| ACGC_GX0546.p1 | chr11:
70332687-70332688 | CT | C | exonic | | Unknown | frameshift deletion | NM_133266 | c.1946delA | p.E649fs | - | - | Wang2020
T
| |
| SHANK2
| M30889 | chr11:
70666755-70666755 | G | A/G | exonic | | Paternal | | | | | - | - | Guo2018
T
| |
| SHANK2
| Leuven2_82947565 | chr11:
70338480-70338480 | C | G | exonic | | Unknown | nonsynonymous SNV | NM_133266 | c.G635C | p.R212P | 29.8 | 2.538E-5 | Wang2020
T
| |
| SHANK2
| GX0233.p1 | chr11:
70666746-70666746 | G | A/G | exonic | | Paternal | | | | | - | - | Guo2018
T
| |
| SHANK2
| ACGC_HEN0078.p1 | chr11:
70332687-70332688 | CT | C | exonic | | Unknown | frameshift deletion | NM_133266 | c.1946delA | p.E649fs | - | - | Wang2020
T
| |
| SHANK2
| ACGC_HEN0243.p1 | chr11:
70332333-70332333 | G | A | exonic | | Unknown | synonymous SNV | NM_133266 | c.C2301T | p.T767T | - | 1.651E-5 | Wang2020
T
| |
| SHANK2
| Leuven_393327 | chr11:
70666591-70666591 | G | A | exonic | | Unknown | unknown | | | | - | 3.0E-4 | Wang2020
T
| |
| SHANK2
| ACGC_M32301 | chr11:
70666569-70666569 | C | T | exonic | | Unknown | unknown | | | | 15.31 | - | Wang2020
T
| |
| SHANK2
| AGRE_AU0906301 | chr11:
70505950-70505950 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_133266 | c.G280A | p.G94R | 26.2 | 8.253E-6 | Wang2020
T
| |
| SHANK2
| ACGC_HEN0333.p1 | chr11:
70332852-70332852 | G | A | exonic | | Unknown | synonymous SNV | NM_133266 | c.C1782T | p.P594P | - | 1.72E-5 | Wang2020
T
| |
| SHANK2
| AU027506 |
Complex Event; expand row to view variants | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| ACGC_M31992 | chr11:
70666569-70666569 | C | T | exonic | | Unknown | unknown | | | | 15.31 | - | Wang2020
T
| |
| SHANK2
| 3-0458-000A | chr11:
71003796-71003796 | T | C | intergenic | | De novo | | | | | - | - | Yuen2017
G
| |
| SHANK2
| AU066403 | chr11:
70908689-70908689 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| SP0160736 | chr11:
70332049-70332049 | G | T | exonic | | | stopgain | NM_133266 | c.C2585A | p.S862X | 39.0 | - | Zhou2022
GE
| |
| SHANK2
| SP0198200 | chr11:
70332183-70332183 | A | T | exonic | | De novo | nonsynonymous SNV | NM_133266 | c.T2451A | p.F817L | 10.31 | - | Trost2022
G
Zhou2022
GE
| |
| SHANK2
| SP0198200 | chr11:
70332176-70332177 | TA | T | exonic | | De novo | frameshift deletion | NM_133266 | c.2457delT | p.F819fs | - | - | Trost2022
G
Zhou2022
GE
| |
| SHANK2
| 5-5185-003 | chr11:
70395216-70395216 | G | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 3-0475-000 | chr11:
70440816-70440816 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 2-1751-003 | chr11:
70372636-70372636 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| PN400267 | chr11:
70824387-70824387 | A | T | exonic | | Unknown | unknown | | | | 18.29 | 0.0046 | Leblond2019
E
| |
| SHANK2
| 2-1781-003 | chr11:
70387039-70387039 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| MSSNG00219-003 | chr11:
70364287-70364287 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| SP0264333 | chr11:
70333635-70333636 | CT | C | exonic | | | frameshift deletion | NM_133266 | c.998delA | p.K333fs | - | - | Zhou2022
GE
| |
| SHANK2
| 4-0026-003 | chr11:
70369140-70369140 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 5-2005-003 | chr11:
70317267-70317273 | CTATCTG | C | UTR3 | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| SP0055686 | chr11:
70333899-70333899 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| ACGC_HEN0344.p1 | chr11:
70666542-70666542 | G | A | exonic | | Maternal | unknown | | | | 21.0 | - | Wang2020
T
| |
| SHANK2
| 7-0385-003 | chr11:
70544071-70544071 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| ACGC_HEN0141.p1 | chr11:
70644650-70644650 | C | T | exonic | | Maternal | unknown | | | | 29.5 | 4.993E-5 | Wang2020
T
| |
| SHANK2
| MSSNG00369-005 | chr11:
70550955-70550955 | G | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 5-0067-003 | chr11:
70504007-70504007 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| ACGC_M17580 | chr11:
70666719-70666719 | G | A | exonic | | Maternal | unknown | | | | 20.2 | - | Wang2020
T
| |
| SHANK2
| 1-0562-003 | chr11:
70511884-70511884 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| GX0379.p1 | chr11:
70332529-70332529 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_133266 | c.G2105A | p.R702Q | 9.616 | 4.121E-5 | Guo2018
T
| |
| SHANK2
| MSSNG00013-004 | chr11:
70453309-70453309 | G | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| AU3801301 | chr11:
70753191-70753191 | C | T | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
| SHANK2
| 1-1126-003 | chr11:
70455461-70455461 | C | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 3-0431-000 | chr11:
70899650-70899650 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2016
G
Yuen2017
G
| |
| SHANK2
| ITAN_2428 | chr11:
70829955-70829955 | G | A | exonic | | Maternal | unknown | | | | 17.81 | - | Wang2020
T
| |
| SHANK2
| 7-0352-003 | chr11:
70441327-70441327 | G | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| ITAN_1435 | chr11:
70644617-70644617 | C | T | exonic | | Maternal | unknown | | | | 32.0 | - | Wang2020
T
| |
| SHANK2
| MSSNG00199-003 | chr11:
70452647-70452647 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| SJD_55.3 | chr11:
70658921-70658921 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 2-1398-004 | chr11:
70695571-70695581 | AGCAGGCTGTG | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| MT_81.3 | chr11:
70649450-70649450 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 10C108736 | chr11:
70336411-70336411 | G | A | exonic | | De novo | stopgain | NM_133266 | c.C757T | p.R253X | 24.1 | - | Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| SHANK2
| 3-0713-000 | chr11:
70650968-70650968 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| AU059003 | chr11:
70648233-70648233 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| AU2437302 | chr11:
70649450-70649450 | T | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| MSSNG00243-003 | chr11:
70585032-70585032 | A | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 3-0050-000 | chr11:
70644157-70644157 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 5-5015-003 | chr11:
70732896-70732896 | A | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 2-0310-003 | chr11:
71037590-71037590 | G | A | intergenic | | De novo | | | | | - | - | Yuen2017
G
| |
| SHANK2
| AU2308301 | chr11:
70739797-70739797 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| MSSNG00011-004 | chr11:
70725423-70725423 | T | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 3-0066-001 | chr11:
70729071-70729071 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 2-1237-004 | chr11:
70712205-70712205 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 3-0731-001A | chr11:
70721828-70721828 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 2-0198-004 | chr11:
70959668-70959668 | G | A | intergenic | | De novo | | | | | - | - | Yuen2017
G
| |
| SHANK2
| MSSNG00364-003 | chr11:
70698568-70698568 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 1-0700-004 | chr11:
70701575-70701575 | C | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| AU071203 | chr11:
70559756-70559756 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| 1-0481-003 | chr11:
70801929-70801935 | TGGGATC | GAGAAACT | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 1-0051-004 | chr11:
70801929-70801935 | TGGGATC | GAGAAACT | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 2-1360-003 | chr11:
70780048-70780048 | C | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| PN400486 | chr11:
70644619-70644619 | C | T | exonic | | Unknown | unknown | | | | 24.2 | 0.0049 | Leblond2019
E
| |
| SHANK2
| 1-0481-003 | chr11:
70801925-70801925 | T | TC | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 1-0464-003 | chr11:
71113580-71113580 | G | A | intergenic | | De novo | | | | | - | - | Yuen2016
G
Yuen2017
G
| |
| SHANK2
| 7-0395-003 | chr11:
70754478-70754478 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 10-1127-003A | chr11:
70754559-70754559 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 7-0233-004 | chr11:
70741480-70741480 | G | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 3-0191-000 | chr11:
70748013-70748013 | G | C | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 5-5131-003 | chr11:
70810703-70810703 | C | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 5-5027-003 | chr11:
70817151-70817152 | TA | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 1-0440-003 | chr11:
70804116-70804116 | T | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 1-0362-003 | chr11:
70806801-70806801 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| PN400380 | chr11:
70644619-70644619 | C | T | exonic | | Unknown | unknown | | | | 24.2 | 0.0049 | Leblond2019
E
| |
| SHANK2
| 1-0481-003 | chr11:
70801940-70801942 | TCT | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 1-0051-004 | chr11:
70801940-70801942 | TCT | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 2-1644-003 | chr11:
70801929-70801935 | TGGGATC | GAGAAACT | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 2-1644-003 | chr11:
70801940-70801942 | TCT | G | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| MT_70.3 | chr11:
70918987-70918987 | C | CTA | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 171-08-109761 | chr11:
70332049-70332049 | G | T | exonic | | De novo | stopgain | NM_133266 | c.C2585A | p.S862X | 39.0 | - | Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| SHANK2
| MSSNG00343-003 | chr11:
70843607-70843607 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 4-0090-003 | chr11:
70857793-70857793 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| MSSNG00340-004 | chr11:
70824155-70824155 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| MSSNG00364-004 | chr11:
70829036-70829036 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
| |
| SHANK2
| 2-1459-003 | chr11:
70386149-70386149 | A | G | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2016
G
Yuen2017
G
| |
| SHANK2
| ITAN_2176 | chr11:
70348920-70348920 | G | A | exonic | | Maternal | synonymous SNV | NM_133266 | c.C414T | p.D138D | 3.697 | - | Wang2020
T
| |
| SHANK2
| HN0112.p1 | chr11:
70507786-70507786 | G | C | exonic | | De novo | stopgain | NM_133266 | c.C87G | p.Y29X | 37.0 | - | Guo2018
T
| |
| SHANK2
| 3-0458-000B | chr11:
71003796-71003796 | T | C | intergenic | | De novo | | | | | - | - | Yuen2017
G
| |
| SHANK2
| AU4433301 | chr11:
70647236-70647236 | A | C | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| HEN0141.p1 | chr11:
70644650-70644650 | C | T | exonic | | Maternal | unknown | | | | 29.5 | 4.993E-5 | Guo2018
T
| |
| SHANK2
| 1-0441-003 | chr11:
70336411-70336411 | G | A | exonic | | De novo | stopgain | NM_133266 | c.C757T | p.R253X | 24.1 | - | Wang2020
T
Yuen2016
G
Yuen2017
G
Zhou2022
GE
| |
| SHANK2
| AU4336301 | chr11:
70818978-70818978 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| M15036 | chr11:
70332552-70332552 | G | A | exonic | | Inherited | synonymous SNV | NM_133266 | c.C2082T | p.Y694Y | - | 3.298E-5 | Stessman2017
T
| |
| SHANK2
| M08903 | chr11:
70332422-70332422 | T | C | exonic | | Paternal | nonsynonymous SNV | NM_133266 | c.A2212G | p.N738D | 0.001 | 8.24E-6 | Guo2018
T
| |
| SHANK2
| M19792 | chr11:
70332329-70332329 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_133266 | c.G2305A | p.G769S | 12.69 | 2.477E-5 | Guo2018
T
| |
| SHANK2
| HEN0344.p1 | chr11:
70666542-70666542 | G | A | exonic | | Maternal | unknown | | | | 21.0 | - | Guo2018
T
| |
| SHANK2
| Wright2024:Par1251 | chr11:
70803563-70803565 | TGG | T | exonic | | Paternal | unknown | | | | - | - | Wright2024
E
| |
| SHANK2
| HEN0080.p1 | chr11:
70666515-70666515 | C | T | exonic | | Maternal | unknown | | | | 11.14 | - | Guo2018
T
| |
| SHANK2
| HEN0031.p1 | chr11:
70829919-70829919 | G | A | exonic | | Maternal | unknown | | | | 15.7 | 4.813E-5 | Guo2018
T
| |
| SHANK2
| HEN0214.p1 | chr11:
70805714-70805714 | C | T | exonic | | Maternal | unknown | | | | 13.98 | 4.529E-5 | Guo2018
T
| |
| SHANK2
| M08656 | chr11:
70824391-70824391 | A | A/G | exonic | | Paternal | | | | | - | - | Guo2018
T
| |
| SHANK2
| SF0136425.p1 | chr11:
70336493-70336493 | C | T | splicing | | | splicing | | | | 17.85 | - | Wang2020
T
| |
| SHANK2
| M20665 | chr11:
70824356-70824356 | C | T | exonic | | Paternal | unknown | | | | 14.33 | - | Guo2018
T
| |
| SHANK2
| M08500 | chr11:
70858195-70858195 | G | A | exonic | | Paternal | unknown | | | | 13.17 | 1.0E-4 | Guo2018
T
| |
| SHANK2
| 1-0019-004 | chr11:
70416269-70416269 | C | T | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
| SHANK2
| M08440 | chr11:
70824391-70824391 | A | A/G | exonic | | Paternal | | | | | - | - | Guo2018
T
| |
| SHANK2
| M23785 | chr11:
70333178-70333178 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_133266 | c.G1456A | p.V486I | 11.88 | 3.471E-5 | Guo2018
T
| |
| SHANK2
| M01813 | chr11:
70332639-70332639 | C | G | exonic | | Paternal | nonsynonymous SNV | NM_133266 | c.G1995C | p.M665I | 12.17 | 8.25E-6 | Guo2018
T
| |
| SHANK2
| M15191 | chr11:
70666751-70666751 | C | T | exonic | | Paternal | unknown | | | | 16.13 | - | Guo2018
T
| |
| SHANK2
| M17534 | chr11:
70507806-70507806 | A | G | exonic | | Paternal | nonsynonymous SNV | NM_133266 | c.T67C | p.C23R | 13.26 | - | Guo2018
T
| |
| SHANK2
| AU2019302 | chr11:
70810949-70810949 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| M17580 | chr11:
70666719-70666719 | G | A | exonic | | Unknown, Maternal | unknown | | | | 20.2 | - | Guo2018
T
Stessman2017
T
| |
| SHANK2
| ACGC_M30889 | chr11:
70666755-70666755 | G | A | exonic | | Paternal | unknown | | | | 21.1 | 1.0E-4 | Wang2020
T
| |
| SHANK2
| SP0062760 | chr11:
70507825-70507825 | C | T | exonic | | De novo | synonymous SNV | NM_133266 | c.G48A | p.T16T | 10.84 | 4.119E-5 | Fu2022
E
Trost2022
G
Zhou2022
GE
| |
| SHANK2
| ACGC_M15191 | chr11:
70666751-70666751 | C | T | exonic | | Paternal | unknown | | | | 16.13 | - | Wang2020
T
| |
| SHANK2
| SP0136425 | chr11:
70336493-70336493 | C | T | splicing | | De novo | splicing | | | | 17.85 | - | Fu2022
E
Tan2024
GE
Trost2022
G
Zhou2022
GE
| |
| SHANK2
| SP0048613 | chr11:
70333544-70333544 | A | AGTACATCCCCTTCTCCCTCATCATGGTG | exonic | | De novo | frameshift insertion | NM_133266 | c.1089_1090insCACCATGATGAGGGAGAAGGGGATGTAC | p.F364fs | - | - | Fu2022
E
Zhou2022
GE
| |
| SHANK2
| 2-0198-005 | chr11:
70959668-70959668 | G | A | intergenic | | De novo | | | | | - | - | Yuen2017
G
| |
| SHANK2
| M21695 | chr11:
70333110-70333110 | C | A | exonic | | Paternal, Inherited | nonsynonymous SNV | NM_133266 | c.G1524T | p.R508S | 15.87 | - | Guo2018
T
Stessman2017
T
| |
| SHANK2
| 14015.p1 | chr11:
70533721-70533721 | T | G | intronic | | De novo | | | | | - | - | Turner2016
G
| |
| SHANK2
| PN400514 | chr11:
70644619-70644619 | C | T | exonic | | Unknown | unknown | | | | 24.2 | 0.0049 | Leblond2019
E
| |
| SHANK2
| Wright2024:Par1340 | chr11:
70336493-70336493 | C | T | splicing | | De novo | splicing | | | | 17.85 | - | Wright2024
E
| |
| SHANK2
| Radboud_10-10578 | chr11:
70644587-70644587 | C | T | exonic | | Paternal | unknown | | | | 20.3 | 5.012E-5 | Wang2020
T
| |
| SHANK2
| 10004871007410237-C | chr11:
70653185-70653186 | TC | T | exonic | | De novo | unknown | | | | - | - | Fu2022
E
| |
| SHANK2
| AU3632301 | chr11:
70796081-70796081 | C | T | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
| SHANK2
| Radboud_10-10576 | chr11:
70644587-70644587 | C | T | exonic | | Paternal | unknown | | | | 20.3 | 5.012E-5 | Wang2020
T
| |
| SHANK2
| PN400279 | chr11:
70644619-70644619 | C | T | exonic | | Unknown | unknown | | | | 24.2 | 0.0049 | Leblond2019
E
| |
| SHANK2
| IBS-ASD-10323-blood-wgs-ILLUMINA | chr11:
70388115-70388115 | C | G | intronic | | De novo | | | | | - | - | Kim2024
G
| |
| SHANK2
| ACGC_HEN0004.p1 | chr11:
70332546-70332546 | G | A | exonic | | Unknown | synonymous SNV | NM_133266 | c.C2088T | p.T696T | - | 8.243E-6 | Wang2020
T
| |
| SHANK2
| IBS-ASD-35074-blood-wgs-ILLUMINA | chr11:
70361513-70361513 | G | A | intronic | | De novo | | | | | - | - | Kim2024
G
| |
| SHANK2
| IBS-ASD-9683-blood-wgs-ILLUMINA | chr11:
70337888-70337888 | G | T | intronic | | De novo | | | | | - | - | Kim2024
G
| |
| SHANK2
| AU1940304 |
Complex Event; expand row to view variants | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| IBS-ASD-19583-blood-wgs-ILLUMINA | chr11:
70333938-70333938 | G | A | intronic | | De novo | | | | | - | - | Kim2024
G
| |
| SHANK2
| 08C74824 | chr11:
70653238-70653238 | G | A | exonic | | De novo | unknown | | | | 14.44 | - | Fu2022
E
| |
| SHANK2
| GEA430 | chr11:
70798895-70798895 | C | CG | intronic | | De novo | | | | | - | 9.076E-5 | Fu2022
E
| |
| SHANK2
| HEN0361.p1 | chr11:
70332577-70332577 | C | T | exonic | | Paternal | nonsynonymous SNV | NM_133266 | c.G2057A | p.R686K | 12.85 | 3.301E-5 | Guo2018
T
| |
| SHANK2
| IBS-ASD-12793-blood-wgs-ILLUMINA | chr11:
70513159-70513159 | T | C | intronic | | De novo | | | | | - | - | Kim2024
G
| |
| SHANK2
| IBS-ASD-18843-blood-wgs-ILLUMINA | chr11:
70507719-70507719 | C | T | exonic | | De novo | nonsynonymous SNV | NM_133266 | c.G154A | p.V52M | 24.0 | - | Kim2024
G
| |
| SHANK2
| IBS-ASD-17303-blood-wgs-ILLUMINA | chr11:
70463861-70463861 | C | T | intronic | | De novo | | | | | - | - | Kim2024
G
| |
| SHANK2
| IBS-ASD-30263-blood-wgs-ILLUMINA | chr11:
70457781-70457781 | A | G | intronic | | De novo | | | | | - | - | Kim2024
G
| |
| SHANK2
| IBS-ASD-13283-blood-wgs-ILLUMINA | chr11:
70457479-70457479 | C | T | intronic | | De novo | | | | | - | - | Kim2024
G
| |
| SHANK2
| IBS-ASD-17053-blood-wgs-ILLUMINA | chr11:
70451607-70451607 | C | T | intronic | | De novo | | | | | - | - | Kim2024
G
| |
| SHANK2
| IBS-ASD-9573-blood-wgs-ILLUMINA | chr11:
70435980-70435980 | C | T | intronic | | De novo | | | | | - | - | Kim2024
G
| |
| SHANK2
| TASC_219-2325-0001 | chr11:
70338495-70338495 | G | A | exonic | | Unknown | nonsynonymous SNV | NM_133266 | c.C620T | p.A207V | 20.6 | 8.396E-6 | Wang2020
T
| |
| SHANK2
| IBS-ASD-7463-blood-wgs-ILLUMINA | chr11:
70414751-70414751 | G | GCGCCCCCC | intronic | | De novo | | | | | - | - | Kim2024
G
| |
| SHANK2
| IBS-ASD-13293-blood-wgs-ILLUMINA | chr11:
70949998-70949998 | C | T | intergenic | | De novo | | | | | - | - | Kim2024
G
| |
| SHANK2
| IBS-ASD-29853-blood-wgs-ILLUMINA | chr11:
70864034-70864034 | A | G | intronic | | De novo | | | | | - | - | Kim2024
G
| |
| SHANK2
| 3-0458-000 | chr11:
71003796-71003796 | T | C | intergenic | | De novo | | | | | - | - | Yuen2016
G
| |
| SHANK2
| IBS-ASD-19503-blood-wgs-ILLUMINA | chr11:
70833753-70833753 | A | T | intronic | | De novo | | | | | - | - | Kim2024
G
| |
| SHANK2
| IBS-ASD-9793-blood-wgs-ILLUMINA | chr11:
70650887-70650887 | C | T | intronic | | De novo | | | | | - | - | Kim2024
G
| |
| SHANK2
| IBS-ASD-18063-blood-wgs-ILLUMINA | chr11:
70580413-70580413 | C | T | intronic | | De novo | | | | | - | - | Kim2024
G
| |
| SHANK2
| IBS-ASD-16193-blood-wgs-ILLUMINA | chr11:
70540368-70540368 | G | A | intronic | | De novo | | | | | - | - | Kim2024
G
| |
| SHANK2
| IBS-ASD-13053-blood-wgs-ILLUMINA | chr11:
70523644-70523644 | G | A | intronic | | De novo | | | | | - | - | Kim2024
G
| |
| SHANK2
| IBS-ASD-13483-blood-wgs-ILLUMINA | chr11:
70518449-70518449 | G | A | intronic | | De novo | | | | | - | - | Kim2024
G
| |
| SHANK2
| HEN0171.p1 | chr11:
70805627-70805627 | C | T | exonic | | Unknown | unknown | | | | 20.2 | - | Guo2018
T
| |
| SHANK2
| PN400515 | chr11:
70644619-70644619 | C | T | exonic | | Unknown | unknown | | | | 24.2 | 0.0049 | Leblond2019
E
| |
| SHANK2
| IBS-ASD-18513-blood-wgs-ILLUMINA | chr11:
71085613-71085613 | A | C | intergenic | | De novo | | | | | - | - | Kim2024
G
| |
| SHANK2
| IBS-ASD-17423-blood-wgs-ILLUMINA | chr11:
71028110-71028116 | ATTATTT | A | intergenic | | De novo | | | | | - | - | Kim2024
G
| |
| SHANK2
| IBS-ASD-35073-blood-wgs-ILLUMINA | chr11:
70977424-70977424 | T | TC | intergenic | | De novo | | | | | - | - | Kim2024
G
| |
| SHANK2
| AU3951301 | chr11:
70474718-70474718 | G | A | intronic | | De novo | | | | | - | - | Yuen2017
G
| |
| SHANK2
| 2-1508-003 | chr11:
70680877-70680877 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| M32289 | chr11:
70829927-70829927 | C | T | exonic | | Maternal | unknown | | | | 33.0 | 4.741E-5 | Guo2018
T
| |
| SHANK2
| Ishay2021:30 | chr11:
70653185-70653186 | TC | T | exonic | | De novo | unknown | | | | - | - | Ishay2021
E
| |
| SHANK2
| AU2513301 | chr11:
70653238-70653238 | G | A | exonic | | | unknown | | | | 14.44 | - | Zhou2022
GE
| |
| SHANK2
| AU4467302 | chr11:
71053450-71053450 | C | T | intergenic | | De novo | | | | | - | - | Yuen2017
G
| |
| SHANK2
| SP0052138 | chr11:
70319250-70319250 | C | T | exonic | | De novo | synonymous SNV | NM_133266 | c.G3510A | p.A1170A | - | 2.0E-4 | Trost2022
G
Zhou2022
GE
| |
| SHANK2
| 03C16187 | chr11:
70348919-70348919 | C | T | exonic | | Unknown | nonsynonymous SNV | NM_133266 | c.G415A | p.D139N | 18.89 | 8.389E-6 | Stessman2017
T
| |
| SHANK2
| 08C74281 | chr11:
70319333-70319333 | C | T | exonic | | De novo | nonsynonymous SNV | NM_133266 | c.G3427A | p.A1143T | 7.19 | - | Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
GE
| |
| SHANK2
| Durbagula2024:92c | chr11:
70829886-70829886 | G | T | exonic | | Paternal | unknown | | | | 15.27 | - | Durbagula2024
E
| |
| SHANK2
| 03C16378 | chr11:
70803515-70803515 | C | T | exonic | | Unknown | unknown | | | | 24.6 | 4.601E-5 | Stessman2017
T
| |
| SHANK2
| PN400317 | chr11:
70824387-70824387 | A | T | exonic | | Unknown | unknown | | | | 18.29 | 0.0046 | Leblond2019
E
| |
| SHANK2
| AU3905301 | chr11:
70569568-70569568 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| 1-0273-004 | chr11:
70546281-70546281 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| 2-0145-004 | chr11:
70483437-70483437 | C | T | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| Wright2024:Par1524 | chr11:
70332049-70332049 | G | T | exonic | | De novo | stopgain | NM_133266 | c.C2585A | p.S862X | 39.0 | - | Wright2024
E
| |
| SHANK2
| 1-0936-003 | chr11:
70697189-70697189 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| PN400321 | chr11:
70824387-70824387 | A | T | exonic | | Unknown | unknown | | | | 18.29 | 0.0046 | Leblond2019
E
| |
| SHANK2
| 2-0214-004 | chr11:
71038934-71038934 | A | T | intergenic | | De novo | | | | | - | - | Yuen2017
G
| |
| SHANK2
| Leuven2_60356116 | chr11:
70829916-70829916 | C | T | exonic | | Unknown | unknown | | | | 31.0 | - | Wang2020
T
| |
| SHANK2
| AU3124302 | chr11:
70491419-70491419 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| Leuven_85885770 | chr11:
70824394-70824394 | C | T | exonic | | Unknown | unknown | | | | 31.0 | - | Wang2020
T
| |
| SHANK2
| SAGE_BK831-01 | chr11:
70829966-70829966 | G | A | exonic | | Unknown | unknown | | | | 26.7 | - | Wang2020
T
| |
| SHANK2
| AU2100302 | chr11:
70401856-70401856 | G | A | intronic | | De novo | | | | | - | - | Trost2022
G
Yuen2017
G
| |
| SHANK2
| GX0432.p1 | chr11:
70332470-70332470 | A | A/C | exonic | | Maternal | | | | | - | - | Guo2018
T
| |
| SHANK2
| ACGC_M21695 | chr11:
70333110-70333110 | C | A | exonic | | Unknown | nonsynonymous SNV | NM_133266 | c.G1524T | p.R508S | 15.87 | - | Wang2020
T
| |
| SHANK2
| Leuven_300450 | chr11:
70829982-70829982 | C | T | exonic | | Unknown | unknown | | | | 27.1 | - | Wang2020
T
| |
| SHANK2
| Wright2024:Par707 | chr11:
70821026-70821026 | G | A | exonic | | Maternal | unknown | | | | 25.9 | - | Wright2024
E
| |
| SHANK2
| GX0430.p1 | chr11:
70805614-70805614 | G | C/G | exonic | | Maternal | | | | | - | - | Guo2018
T
| |
| SHANK2
| GX0444.p1 | chr11:
70332709-70332709 | G | C | exonic | | Maternal | nonsynonymous SNV | NM_133266 | c.C1925G | p.S642C | 9.744 | - | Guo2018
T
| |