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Results for "SHANK2"

Variant Events: 227

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
SHANK2     2-1129-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2016 G
Yuen2017 G
SHANK2     1-0677-003chr11:
70380022-70380022		CGintronicDe novo--Trost2022 G
Yuen2017 G
SHANK2     7-0174-003chr11:
71018656-71018656		TGintergenicDe novo--Yuen2017 G
SHANK2     1-0253-004chr11:
70380896-70380896		CTintronicDe novo--Trost2022 G
Yuen2017 G
SHANK2     1-0530-003chr11:
71034073-71034073		GAintergenicDe novo--Yuen2016 G
Yuen2017 G
SHANK2     12380.p1chr11:
70332092-70332094		CTGCexonicUnknown, De novoframeshift deletionNM_133266c.2540_2541delp.S847fs--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Wilfert2021 G
Willsey2013 E
Zhou2022 GE
SHANK2     1-0169-004chr11:
70515179-70515179		AGintronicDe novo--Trost2022 G
Yuen2017 G
SHANK2     2-1391-004chr11:
70445947-70445948		AGAintronicDe novo--Yuen2017 G
SHANK2     74-0115chr11:
71103740-71103740		ACintergenicDe novo--Michaelson2012 G
SHANK2     3-0456-000chr11:
70544556-70544556		CTintronicDe novo--Yuen2016 G
Yuen2017 G
SHANK2     AU071703chr11:
70803515-70803515		CTexonicUnknownunknown24.64.601E-5Stessman2017 T
SHANK2     AU054304chr11:
70769891-70769891		CTintronicDe novo--Trost2022 G
Yuen2017 G
SHANK2     ACGC_M15036chr11:
70332552-70332552		GAexonicUnknownsynonymous SNVNM_133266c.C2082Tp.Y694Y-3.298E-5Wang2020 T
SHANK2     AU2075301chr11:
70799643-70799643		GAintronicDe novo--Trost2022 G
Yuen2017 G
SHANK2     Leuven2_60356400chr11:
70666548-70666548		GAexonicUnknownunknown17.19-Wang2020 T
SHANK2     Leuven_405458chr11:
70666548-70666548		GAexonicUnknownunknown17.19-Wang2020 T
SHANK2     1-0075-003chr11:
70697001-70697001		CTintronicDe novo--Trost2022 G
Yuen2017 G
SHANK2     PN400501chr11:
70644619-70644619		CTexonicUnknownunknown24.20.0049Leblond2019 E
SHANK2     AGRE_AU071703chr11:
70803515-70803515		CTexonicUnknownunknown24.64.601E-5Wang2020 T
SHANK2     AGRE_03C16378chr11:
70803515-70803515		CTexonicUnknownunknown24.64.601E-5Wang2020 T
SHANK2     2-0298-003chr11:
70377333-70377333		AGintronicDe novo--Trost2022 G
Yuen2017 G
SHANK2     1-0455-004chr11:
70330136-70330136		AGintronicDe novo--Trost2022 G
Yuen2017 G
SHANK2     M03813chr11:
70332898-70332898		CTexonicMaternalnonsynonymous SNVNM_133266c.G1736Ap.G579D3.12-Guo2018 T
SHANK2     3-0456-000Bchr11:
70544556-70544556		CTintronicDe novo--Trost2022 G
Yuen2017 G
SHANK2     M19664chr11:
70821045-70821045		CAexonicMaternalunknown12.27-Guo2018 T
SHANK2     M08314chr11:
70803628-70803628		AGexonicMaternalunknown15.42-Guo2018 T
SHANK2     M20738chr11:
70824391-70824391		AA/GexonicMaternal--Guo2018 T
SHANK2     M23679chr11:
70336459-70336459		TGexonicMaternalnonsynonymous SNVNM_133266c.A709Cp.T237P9.687-Guo2018 T
SHANK2     TASC_211-5435-4chr11:
70666749-70666749		GAexonicUnknownunknown18.94-Wang2020 T
SHANK2     M16089chr11:
70333178-70333178		CTexonicMaternalnonsynonymous SNVNM_133266c.G1456Ap.V486I11.883.471E-5Guo2018 T
SHANK2     Leuven_299053chr11:
70666749-70666749		GAexonicUnknownunknown18.94-Wang2020 T
SHANK2     M08485chr11:
70346692-70346692		GAexonicMaternalnonsynonymous SNVNM_133266c.C527Tp.S176L17.49-Guo2018 T
SHANK2     M08515chr11:
70336459-70336459		TGexonicMaternalnonsynonymous SNVNM_133266c.A709Cp.T237P9.687-Guo2018 T
SHANK2     ACGC_HN0112.p1chr11:
70507786-70507786		GCexonicDe novostopgainNM_133266c.C87Gp.Y29X37.0-Wang2020 T
SHANK2     2-1207-003chr11:
70716492-70716492		GAintronicDe novo--Yuen2016 G
Yuen2017 G
SHANK2     Gecz4_48759chr11:
70805627-70805627		CTexonicUnknownunknown20.2-Wang2020 T
SHANK2     ACGC_HEN0171.p1chr11:
70805627-70805627		CTexonicUnknownunknown20.2-Wang2020 T
SHANK2     108070-100chr11:
70803488-70803488		CGexonicUnknownunknown26.2-Stessman2017 T
SHANK2     2-0198-003chr11:
70568291-70568291		GAintronicDe novo--Trost2022 G
Yuen2017 G
SHANK2     2-1131-003chr11:
71114941-71114941		CGintergenicDe novo--Yuen2017 G
SHANK2     2-0299-003chr11:
70512026-70512026		CTintronicDe novo--Trost2022 G
Yuen2017 G
SHANK2     HN0074.p1chr11:
70332443-70332443		CTexonicPaternalnonsynonymous SNVNM_133266c.G2191Ap.V731M17.178.24E-6Guo2018 T
SHANK2     GX0325.p1chr11:
70336401-70336401		AGexonicPaternalnonsynonymous SNVNM_133266c.T767Cp.M256T15.988.243E-6Guo2018 T
SHANK2     HN0037.p1chr11:
70332912-70332912		CGexonicPaternalnonsynonymous SNVNM_133266c.G1722Cp.E574D6.322-Guo2018 T
SHANK2     Leuven_305385chr11:
70505962-70505962		CTexonicUnknownnonsynonymous SNVNM_133266c.G268Ap.G90R32.01.65E-5Wang2020 T
SHANK2     1-0277-003chr11:
70319333-70319333		CTexonicDe novononsynonymous SNVNM_133266c.G3427Ap.A1143T7.19-Wang2020 T
Yuen2017 G
Zhou2022 GE
SHANK2     PN400483chr11:
70644619-70644619		CTexonicUnknownunknown24.20.0049Leblond2019 E
SHANK2     GX0441.p1chr11:
70821058-70821058		CC/TexonicPaternal--Guo2018 T
SHANK2     AGRE_AU1644303chr11:
70805647-70805647		CTexonicUnknownunknown27.34.604E-5Wang2020 T
SHANK2     AGRE_AU1181303chr11:
70348922-70348922		CTexonicUnknownnonsynonymous SNVNM_133266c.G412Ap.D138N22.58.332E-6Wang2020 T
SHANK2     AGRE_03C16187chr11:
70348919-70348919		CTexonicUnknownnonsynonymous SNVNM_133266c.G415Ap.D139N18.898.389E-6Wang2020 T
SHANK2     1-0104-003chr11:
70914484-70914492		ATAAAGGGTAintronicDe novo--Trost2022 G
Yuen2017 G
SHANK2     M32019chr11:
70666515-70666515		CC/TexonicPaternal--Guo2018 T
SHANK2     ACGC_HEN0059.p1chr11:
70332687-70332688		CTCexonicUnknownframeshift deletionNM_133266c.1946delAp.E649fs--Wang2020 T
SHANK2     GX0409.p1chr11:
70507869-70507869		TCexonicPaternalnonsynonymous SNVNM_133266c.A4Gp.M2V15.77-Guo2018 T
SHANK2     ACGC_GX0546.p1chr11:
70332687-70332688		CTCexonicUnknownframeshift deletionNM_133266c.1946delAp.E649fs--Wang2020 T
SHANK2     M30889chr11:
70666755-70666755		GA/GexonicPaternal--Guo2018 T
SHANK2     Leuven2_82947565chr11:
70338480-70338480		CGexonicUnknownnonsynonymous SNVNM_133266c.G635Cp.R212P29.82.538E-5Wang2020 T
SHANK2     GX0233.p1chr11:
70666746-70666746		GA/GexonicPaternal--Guo2018 T
SHANK2     ACGC_HEN0078.p1chr11:
70332687-70332688		CTCexonicUnknownframeshift deletionNM_133266c.1946delAp.E649fs--Wang2020 T
SHANK2     ACGC_HEN0243.p1chr11:
70332333-70332333		GAexonicUnknownsynonymous SNVNM_133266c.C2301Tp.T767T-1.651E-5Wang2020 T
SHANK2     Leuven_393327chr11:
70666591-70666591		GAexonicUnknownunknown-3.0E-4Wang2020 T
SHANK2     ACGC_M32301chr11:
70666569-70666569		CTexonicUnknownunknown15.31-Wang2020 T
SHANK2     AGRE_AU0906301chr11:
70505950-70505950		CTexonicUnknownnonsynonymous SNVNM_133266c.G280Ap.G94R26.28.253E-6Wang2020 T
SHANK2     ACGC_HEN0333.p1chr11:
70332852-70332852		GAexonicUnknownsynonymous SNVNM_133266c.C1782Tp.P594P-1.72E-5Wang2020 T
SHANK2     AU027506 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
SHANK2     ACGC_M31992chr11:
70666569-70666569		CTexonicUnknownunknown15.31-Wang2020 T
SHANK2     3-0458-000Achr11:
71003796-71003796		TCintergenicDe novo--Yuen2017 G
SHANK2     AU066403chr11:
70908689-70908689		GAintronicDe novo--Trost2022 G
Yuen2017 G
SHANK2     SP0160736chr11:
70332049-70332049		GTexonicstopgainNM_133266c.C2585Ap.S862X39.0-Zhou2022 GE
SHANK2     SP0198200chr11:
70332183-70332183		ATexonicDe novononsynonymous SNVNM_133266c.T2451Ap.F817L10.31-Trost2022 G
Zhou2022 GE
SHANK2     SP0198200chr11:
70332176-70332177		TATexonicDe novoframeshift deletionNM_133266c.2457delTp.F819fs--Trost2022 G
Zhou2022 GE
SHANK2     5-5185-003chr11:
70395216-70395216		GTintronicDe novo--Trost2022 G
SHANK2     3-0475-000chr11:
70440816-70440816		CTintronicDe novo--Trost2022 G
SHANK2     2-1751-003chr11:
70372636-70372636		CTintronicDe novo--Trost2022 G
SHANK2     PN400267chr11:
70824387-70824387		ATexonicUnknownunknown18.290.0046Leblond2019 E
SHANK2     2-1781-003chr11:
70387039-70387039		CTintronicDe novo--Trost2022 G
SHANK2     MSSNG00219-003chr11:
70364287-70364287		CTintronicDe novo--Trost2022 G
SHANK2     SP0264333chr11:
70333635-70333636		CTCexonicframeshift deletionNM_133266c.998delAp.K333fs--Zhou2022 GE
SHANK2     4-0026-003chr11:
70369140-70369140		CTintronicDe novo--Trost2022 G
SHANK2     5-2005-003chr11:
70317267-70317273		CTATCTGCUTR3De novo--Trost2022 G
SHANK2     SP0055686chr11:
70333899-70333899		GAintronicDe novo--Trost2022 G
SHANK2     ACGC_HEN0344.p1chr11:
70666542-70666542		GAexonicMaternalunknown21.0-Wang2020 T
SHANK2     7-0385-003chr11:
70544071-70544071		CTintronicDe novo--Trost2022 G
SHANK2     ACGC_HEN0141.p1chr11:
70644650-70644650		CTexonicMaternalunknown29.54.993E-5Wang2020 T
SHANK2     MSSNG00369-005chr11:
70550955-70550955		GTintronicDe novo--Trost2022 G
SHANK2     5-0067-003chr11:
70504007-70504007		CTintronicDe novo--Trost2022 G
SHANK2     ACGC_M17580chr11:
70666719-70666719		GAexonicMaternalunknown20.2-Wang2020 T
SHANK2     1-0562-003chr11:
70511884-70511884		GAintronicDe novo--Trost2022 G
SHANK2     GX0379.p1chr11:
70332529-70332529		CTexonicUnknownnonsynonymous SNVNM_133266c.G2105Ap.R702Q9.6164.121E-5Guo2018 T
SHANK2     MSSNG00013-004chr11:
70453309-70453309		GTintronicDe novo--Trost2022 G
SHANK2     AU3801301chr11:
70753191-70753191		CTintronicDe novo--Yuen2017 G
SHANK2     1-1126-003chr11:
70455461-70455461		CAintronicDe novo--Trost2022 G
SHANK2     3-0431-000chr11:
70899650-70899650		CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
SHANK2     ITAN_2428chr11:
70829955-70829955		GAexonicMaternalunknown17.81-Wang2020 T
SHANK2     7-0352-003chr11:
70441327-70441327		GTintronicDe novo--Trost2022 G
SHANK2     ITAN_1435chr11:
70644617-70644617		CTexonicMaternalunknown32.0-Wang2020 T
SHANK2     MSSNG00199-003chr11:
70452647-70452647		TCintronicDe novo--Trost2022 G
SHANK2     SJD_55.3chr11:
70658921-70658921		TCintronicDe novo--Trost2022 G
SHANK2     2-1398-004chr11:
70695571-70695581		AGCAGGCTGTGAintronicDe novo--Trost2022 G
SHANK2     MT_81.3chr11:
70649450-70649450		TCintronicDe novo--Trost2022 G
SHANK2     10C108736chr11:
70336411-70336411		GAexonicDe novostopgainNM_133266c.C757Tp.R253X24.1-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SHANK2     3-0713-000chr11:
70650968-70650968		CTintronicDe novo--Trost2022 G
SHANK2     AU059003chr11:
70648233-70648233		GAintronicDe novo--Trost2022 G
SHANK2     AU2437302chr11:
70649450-70649450		TAintronicDe novo--Trost2022 G
SHANK2     MSSNG00243-003chr11:
70585032-70585032		ACintronicDe novo--Trost2022 G
SHANK2     3-0050-000chr11:
70644157-70644157		GAintronicDe novo--Trost2022 G
SHANK2     5-5015-003chr11:
70732896-70732896		ACintronicDe novo--Trost2022 G
SHANK2     2-0310-003chr11:
71037590-71037590		GAintergenicDe novo--Yuen2017 G
SHANK2     AU2308301chr11:
70739797-70739797		GAintronicDe novo--Trost2022 G
SHANK2     MSSNG00011-004chr11:
70725423-70725423		TCintronicDe novo--Trost2022 G
SHANK2     3-0066-001chr11:
70729071-70729071		GAintronicDe novo--Trost2022 G
SHANK2     2-1237-004chr11:
70712205-70712205		CTintronicDe novo--Trost2022 G
SHANK2     3-0731-001Achr11:
70721828-70721828		CTintronicDe novo--Trost2022 G
SHANK2     2-0198-004chr11:
70959668-70959668		GAintergenicDe novo--Yuen2017 G
SHANK2     MSSNG00364-003chr11:
70698568-70698568		CTintronicDe novo--Trost2022 G
SHANK2     1-0700-004chr11:
70701575-70701575		CGintronicDe novo--Trost2022 G
SHANK2     AU071203chr11:
70559756-70559756		GAintronicDe novo--Trost2022 G
Yuen2017 G
SHANK2     1-0481-003chr11:
70801929-70801935		TGGGATCGAGAAACTintronicDe novo--Trost2022 G
SHANK2     1-0051-004chr11:
70801929-70801935		TGGGATCGAGAAACTintronicDe novo--Trost2022 G
SHANK2     2-1360-003chr11:
70780048-70780048		CAintronicDe novo--Trost2022 G
SHANK2     PN400486chr11:
70644619-70644619		CTexonicUnknownunknown24.20.0049Leblond2019 E
SHANK2     1-0481-003chr11:
70801925-70801925		TTCintronicDe novo--Trost2022 G
SHANK2     1-0464-003chr11:
71113580-71113580		GAintergenicDe novo--Yuen2016 G
Yuen2017 G
SHANK2     7-0395-003chr11:
70754478-70754478		GAintronicDe novo--Trost2022 G
SHANK2     10-1127-003Achr11:
70754559-70754559		GAintronicDe novo--Trost2022 G
SHANK2     7-0233-004chr11:
70741480-70741480		GCintronicDe novo--Trost2022 G
SHANK2     3-0191-000chr11:
70748013-70748013		GCintronicDe novo--Trost2022 G
SHANK2     5-5131-003chr11:
70810703-70810703		CGintronicDe novo--Trost2022 G
SHANK2     5-5027-003chr11:
70817151-70817152		TATintronicDe novo--Trost2022 G
SHANK2     1-0440-003chr11:
70804116-70804116		TAintronicDe novo--Trost2022 G
SHANK2     1-0362-003chr11:
70806801-70806801		GAintronicDe novo--Trost2022 G
SHANK2     PN400380chr11:
70644619-70644619		CTexonicUnknownunknown24.20.0049Leblond2019 E
SHANK2     1-0481-003chr11:
70801940-70801942		TCTGintronicDe novo--Trost2022 G
SHANK2     1-0051-004chr11:
70801940-70801942		TCTGintronicDe novo--Trost2022 G
SHANK2     2-1644-003chr11:
70801929-70801935		TGGGATCGAGAAACTintronicDe novo--Trost2022 G
SHANK2     2-1644-003chr11:
70801940-70801942		TCTGintronicDe novo--Trost2022 G
SHANK2     MT_70.3chr11:
70918987-70918987		CCTAintronicDe novo--Trost2022 G
SHANK2     171-08-109761chr11:
70332049-70332049		GTexonicDe novostopgainNM_133266c.C2585Ap.S862X39.0-Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SHANK2     MSSNG00343-003chr11:
70843607-70843607		GAintronicDe novo--Trost2022 G
SHANK2     4-0090-003chr11:
70857793-70857793		CTintronicDe novo--Trost2022 G
SHANK2     MSSNG00340-004chr11:
70824155-70824155		CTintronicDe novo--Trost2022 G
SHANK2     MSSNG00364-004chr11:
70829036-70829036		GAintronicDe novo--Trost2022 G
SHANK2     2-1459-003chr11:
70386149-70386149		AGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
SHANK2     ITAN_2176chr11:
70348920-70348920		GAexonicMaternalsynonymous SNVNM_133266c.C414Tp.D138D3.697-Wang2020 T
SHANK2     HN0112.p1chr11:
70507786-70507786		GCexonicDe novostopgainNM_133266c.C87Gp.Y29X37.0-Guo2018 T
SHANK2     3-0458-000Bchr11:
71003796-71003796		TCintergenicDe novo--Yuen2017 G
SHANK2     AU4433301chr11:
70647236-70647236		ACintronicDe novo--Trost2022 G
Yuen2017 G
SHANK2     HEN0141.p1chr11:
70644650-70644650		CTexonicMaternalunknown29.54.993E-5Guo2018 T
SHANK2     1-0441-003chr11:
70336411-70336411		GAexonicDe novostopgainNM_133266c.C757Tp.R253X24.1-Wang2020 T
Yuen2016 G
Yuen2017 G
Zhou2022 GE
SHANK2     AU4336301chr11:
70818978-70818978		GAintronicDe novo--Trost2022 G
Yuen2017 G
SHANK2     M15036chr11:
70332552-70332552		GAexonicInheritedsynonymous SNVNM_133266c.C2082Tp.Y694Y-3.298E-5Stessman2017 T
SHANK2     M08903chr11:
70332422-70332422		TCexonicPaternalnonsynonymous SNVNM_133266c.A2212Gp.N738D0.0018.24E-6Guo2018 T
SHANK2     M19792chr11:
70332329-70332329		CTexonicPaternalnonsynonymous SNVNM_133266c.G2305Ap.G769S12.692.477E-5Guo2018 T
SHANK2     HEN0344.p1chr11:
70666542-70666542		GAexonicMaternalunknown21.0-Guo2018 T
SHANK2     HEN0080.p1chr11:
70666515-70666515		CTexonicMaternalunknown11.14-Guo2018 T
SHANK2     HEN0031.p1chr11:
70829919-70829919		GAexonicMaternalunknown15.74.813E-5Guo2018 T
SHANK2     HEN0214.p1chr11:
70805714-70805714		CTexonicMaternalunknown13.984.529E-5Guo2018 T
SHANK2     M08656chr11:
70824391-70824391		AA/GexonicPaternal--Guo2018 T
SHANK2     SF0136425.p1chr11:
70336493-70336493		CTsplicingsplicing17.85-Wang2020 T
SHANK2     M20665chr11:
70824356-70824356		CTexonicPaternalunknown14.33-Guo2018 T
SHANK2     M08500chr11:
70858195-70858195		GAexonicPaternalunknown13.171.0E-4Guo2018 T
SHANK2     1-0019-004chr11:
70416269-70416269		CTintronicDe novo--Yuen2017 G
SHANK2     M08440chr11:
70824391-70824391		AA/GexonicPaternal--Guo2018 T
SHANK2     M23785chr11:
70333178-70333178		CTexonicPaternalnonsynonymous SNVNM_133266c.G1456Ap.V486I11.883.471E-5Guo2018 T
SHANK2     M01813chr11:
70332639-70332639		CGexonicPaternalnonsynonymous SNVNM_133266c.G1995Cp.M665I12.178.25E-6Guo2018 T
SHANK2     M15191chr11:
70666751-70666751		CTexonicPaternalunknown16.13-Guo2018 T
SHANK2     M17534chr11:
70507806-70507806		AGexonicPaternalnonsynonymous SNVNM_133266c.T67Cp.C23R13.26-Guo2018 T
SHANK2     AU2019302chr11:
70810949-70810949		GAintronicDe novo--Trost2022 G
Yuen2017 G
SHANK2     M17580chr11:
70666719-70666719		GAexonicMaternal, Unknownunknown20.2-Guo2018 T
Stessman2017 T
SHANK2     ACGC_M30889chr11:
70666755-70666755		GAexonicPaternalunknown21.11.0E-4Wang2020 T
SHANK2     SP0062760chr11:
70507825-70507825		CTexonicDe novosynonymous SNVNM_133266c.G48Ap.T16T10.844.119E-5Fu2022 E
Trost2022 G
Zhou2022 GE
SHANK2     ACGC_M15191chr11:
70666751-70666751		CTexonicPaternalunknown16.13-Wang2020 T
SHANK2     SP0136425chr11:
70336493-70336493		CTsplicingDe novosplicing17.85-Fu2022 E
Trost2022 G
Zhou2022 GE
SHANK2     SP0048613chr11:
70333544-70333544		AAGTACATCCCCTTCTCCCTCATCATGGTGexonicDe novoframeshift insertionNM_133266c.1089_1090insCACCATGATGAGGGAGAAGGGGATGTACp.F364fs--Fu2022 E
Zhou2022 GE
SHANK2     2-0198-005chr11:
70959668-70959668		GAintergenicDe novo--Yuen2017 G
SHANK2     M21695chr11:
70333110-70333110		CAexonicPaternal, Inheritednonsynonymous SNVNM_133266c.G1524Tp.R508S15.87-Guo2018 T
Stessman2017 T
SHANK2     14015.p1chr11:
70533721-70533721		TGintronicDe novo--Turner2016 G
SHANK2     PN400514chr11:
70644619-70644619		CTexonicUnknownunknown24.20.0049Leblond2019 E
SHANK2     Radboud_10-10578chr11:
70644587-70644587		CTexonicPaternalunknown20.35.012E-5Wang2020 T
SHANK2     10004871007410237-Cchr11:
70653185-70653186		TCTexonicDe novounknown--Fu2022 E
SHANK2     AU3632301chr11:
70796081-70796081		CTintronicDe novo--Yuen2017 G
SHANK2     Radboud_10-10576chr11:
70644587-70644587		CTexonicPaternalunknown20.35.012E-5Wang2020 T
SHANK2     PN400279chr11:
70644619-70644619		CTexonicUnknownunknown24.20.0049Leblond2019 E
SHANK2     ACGC_HEN0004.p1chr11:
70332546-70332546		GAexonicUnknownsynonymous SNVNM_133266c.C2088Tp.T696T-8.243E-6Wang2020 T
SHANK2     AU1940304 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
SHANK2     08C74824chr11:
70653238-70653238		GAexonicDe novounknown14.44-Fu2022 E
SHANK2     GEA430chr11:
70798895-70798895		CCGintronicDe novo-9.076E-5Fu2022 E
SHANK2     HEN0361.p1chr11:
70332577-70332577		CTexonicPaternalnonsynonymous SNVNM_133266c.G2057Ap.R686K12.853.301E-5Guo2018 T
SHANK2     TASC_219-2325-0001chr11:
70338495-70338495		GAexonicUnknownnonsynonymous SNVNM_133266c.C620Tp.A207V20.68.396E-6Wang2020 T
SHANK2     3-0458-000chr11:
71003796-71003796		TCintergenicDe novo--Yuen2016 G
SHANK2     HEN0171.p1chr11:
70805627-70805627		CTexonicUnknownunknown20.2-Guo2018 T
SHANK2     PN400515chr11:
70644619-70644619		CTexonicUnknownunknown24.20.0049Leblond2019 E
SHANK2     AU3951301chr11:
70474718-70474718		GAintronicDe novo--Yuen2017 G
SHANK2     2-1508-003chr11:
70680877-70680877		CTintronicDe novo--Trost2022 G
Yuen2017 G
SHANK2     M32289chr11:
70829927-70829927		CTexonicMaternalunknown33.04.741E-5Guo2018 T
SHANK2     Ishay2021:30chr11:
70653185-70653186		TCTexonicDe novounknown--Ishay2021 E
SHANK2     AU2513301chr11:
70653238-70653238		GAexonicunknown14.44-Zhou2022 GE
SHANK2     AU4467302chr11:
71053450-71053450		CTintergenicDe novo--Yuen2017 G
SHANK2     SP0052138chr11:
70319250-70319250		CTexonicDe novosynonymous SNVNM_133266c.G3510Ap.A1170A-2.0E-4Trost2022 G
Zhou2022 GE
SHANK2     03C16187chr11:
70348919-70348919		CTexonicUnknownnonsynonymous SNVNM_133266c.G415Ap.D139N18.898.389E-6Stessman2017 T
SHANK2     08C74281chr11:
70319333-70319333		CTexonicDe novononsynonymous SNVNM_133266c.G3427Ap.A1143T7.19-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SHANK2     03C16378chr11:
70803515-70803515		CTexonicUnknownunknown24.64.601E-5Stessman2017 T
SHANK2     PN400317chr11:
70824387-70824387		ATexonicUnknownunknown18.290.0046Leblond2019 E
SHANK2     AU3905301chr11:
70569568-70569568		CTintronicDe novo--Trost2022 G
Yuen2017 G
SHANK2     1-0273-004chr11:
70546281-70546281		CTintronicDe novo--Trost2022 G
Yuen2017 G
SHANK2     2-0145-004chr11:
70483437-70483437		CTintronicDe novo--Trost2022 G
Yuen2017 G
SHANK2     1-0936-003chr11:
70697189-70697189		GAintronicDe novo--Trost2022 G
Yuen2017 G
SHANK2     PN400321chr11:
70824387-70824387		ATexonicUnknownunknown18.290.0046Leblond2019 E
SHANK2     2-0214-004chr11:
71038934-71038934		ATintergenicDe novo--Yuen2017 G
SHANK2     Leuven2_60356116chr11:
70829916-70829916		CTexonicUnknownunknown31.0-Wang2020 T
SHANK2     AU3124302chr11:
70491419-70491419		GAintronicDe novo--Trost2022 G
Yuen2017 G
SHANK2     Leuven_85885770chr11:
70824394-70824394		CTexonicUnknownunknown31.0-Wang2020 T
SHANK2     SAGE_BK831-01chr11:
70829966-70829966		GAexonicUnknownunknown26.7-Wang2020 T
SHANK2     AU2100302chr11:
70401856-70401856		GAintronicDe novo--Trost2022 G
Yuen2017 G
SHANK2     GX0432.p1chr11:
70332470-70332470		AA/CexonicMaternal--Guo2018 T
SHANK2     ACGC_M21695chr11:
70333110-70333110		CAexonicUnknownnonsynonymous SNVNM_133266c.G1524Tp.R508S15.87-Wang2020 T
SHANK2     Leuven_300450chr11:
70829982-70829982		CTexonicUnknownunknown27.1-Wang2020 T
SHANK2     GX0430.p1chr11:
70805614-70805614		GC/GexonicMaternal--Guo2018 T
SHANK2     GX0444.p1chr11:
70332709-70332709		GCexonicMaternalnonsynonymous SNVNM_133266c.C1925Gp.S642C9.744-Guo2018 T
SHANK2     GX0240.p1chr11:
70858251-70858251		GA/GexonicMaternal--Guo2018 T
SHANK2     GX0358.p1chr11:
70830059-70830059		GC/GexonicMaternal--Guo2018 T
SHANK2     mAGRE5936chr11:
70794457-70794457		CTintronicPaternal17.45-Cirnigliaro2023 G
SHANK2     mAGRE5935chr11:
70794457-70794457		CTintronicPaternal17.45-Cirnigliaro2023 G
SHANK2     219-2325-0001chr11:
70338495-70338495		GAexonicUnknownnonsynonymous SNVNM_133266c.C620Tp.A207V20.68.396E-6Stessman2017 T
SHANK2     2-1303-003chr11:
70505417-70505417		CTintronicDe novo--Yuen2017 G
SHANK2     1-0197-004chr11:
70546607-70546607		CTintronicDe novo--Trost2022 G
Yuen2017 G
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Paper Information
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The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
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