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Exact

Results for "VPS13B"

Variant Events: 137

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
VPS13B     63-343chr8:
100029719-100029719
TGintronicDe novo--Michaelson2012 G
VPS13B     1-0862-003chr8:
100304975-100304986
CAATATACCCCACintronicDe novo--Trost2022 G
VPS13B     74-0075chr8:
100264852-100264852
GTintronicDe novo--Michaelson2012 G
VPS13B     3-0007-000chr8:
100328025-100328025
CTintronicDe novo--Trost2022 G
VPS13B     REACH000721chr8:
100235253-100235253
CTintronicDe novo--Trost2022 G
VPS13B     SP0040315chr8:
100286618-100286618
GTintronicDe novo--Trost2022 G
VPS13B     REACH000026chr8:
100200600-100200600
AGintronicDe novo--Trost2022 G
VPS13B     1-0951-003chr8:
100232251-100232251
AGintronicDe novo--Trost2022 G
VPS13B     REACH000182chr8:
100179875-100179875
TCintronicDe novo--Trost2022 G
VPS13B     REACH000182chr8:
100179913-100179913
TCintronicDe novo--Trost2022 G
VPS13B     Li2017:20766chr8:
100880652-100880652
CTexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.C11426T
c.C11351T
p.P3809L
p.P3784L
33.0-Li2017 T
VPS13B     MSSNG00415-003chr8:
100421894-100421894
GAintronicDe novo--Trost2022 G
VPS13B     2-1817-003chr8:
100441511-100441511
CTintronicDe novo--Trost2022 G
VPS13B     MSSNG00346-004chr8:
100394687-100394687
CAintronicDe novo--Trost2022 G
VPS13B     SJD_8.4chr8:
100394693-100394693
AGintronicDe novo--Trost2022 G
VPS13B     C9C2C_01chr8:
100366556-100366556
CTintronicDe novo--Trost2022 G
VPS13B     1-0464-003chr8:
100594820-100594820
TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
VPS13B     2-1428-003chr8:
100302975-100302975
TAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
VPS13B     3-0630-000chr8:
100392833-100392833
AGintronicDe novo--Trost2022 G
VPS13B     5-5162-003chr8:
100347629-100347629
TAintronicDe novo--Trost2022 G
VPS13B     AU4239301chr8:
100359370-100359370
TAintronicDe novo--Trost2022 G
VPS13B     2-0300-003chr8:
100499478-100499478
AGintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     3-0211-000chr8:
100594866-100594866
TCintronicDe novo--Trost2022 G
VPS13B     AU3760301chr8:
100133467-100133468
TATexonicPaternalframeshift deletionNM_015243
NM_017890
NM_152564
NM_181661
c.1001delA
c.1001delA
c.1001delA
c.1001delA
p.Y334fs
p.Y334fs
p.Y334fs
p.Y334fs
--Cirnigliaro2023 G
VPS13B     4-0026-003chr8:
100596869-100596869
TCintronicDe novo--Trost2022 G
VPS13B     4-0073-003chr8:
100560231-100560233
TTAAATintronicDe novo--Trost2022 G
VPS13B     MSSNG00255-003chr8:
100570763-100570763
TAintronicDe novo--Trost2022 G
VPS13B     3-0198-000chr8:
100539503-100539504
TAGTintronicDe novo--Trost2022 G
VPS13B     2-0057-003chr8:
100038654-100038654
CAintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     REACH000731chr8:
100548969-100548969
GAintronicDe novo-2.0E-4Trost2022 G
VPS13B     REACH000189chr8:
100475062-100475062
CAintronicDe novo--Trost2022 G
VPS13B     2-1434-003chr8:
100471263-100471263
GAintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     SJD_46.3chr8:
100536607-100536607
GAintronicDe novo--Trost2022 G
VPS13B     MSSNG00005-004chr8:
100743477-100743477
CTintronicDe novo--Trost2022 G
VPS13B     mAGRE2747chr8:
100847523-100847523
TTAexonicMaternalframeshift insertionNM_017890
NM_152564
c.9789dupA
c.9714dupA
p.V3263fs
p.V3238fs
--Cirnigliaro2023 G
VPS13B     Li2017:16286chr8:
100887863-100887867
AAAATAexonicUnknownframeshift deletionNM_017890
NM_152564
c.12039_12042del
c.11964_11967del
p.K4013fs
p.K3988fs
-8.239E-6Li2017 T
VPS13B     7-0100-004chr8:
100364443-100364446
GTAAGintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     AU3371301chr8:
100377149-100377149
CGintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     AU2310301chr8:
100751224-100751224
CTintronicDe novo--Trost2022 G
VPS13B     mAGRE1776chr8:
100830757-100830757
CTexonicPaternalstopgainNM_017890
NM_152564
c.C8515T
c.C8440T
p.R2839X
p.R2814X
50.08.241E-6Cirnigliaro2023 G
VPS13B     MSSNG00241-003chr8:
100724854-100724854
TCintronicDe novo--Trost2022 G
VPS13B     AU3124302chr8:
100732642-100732642
GTexonicPaternalstopgainNM_017890
NM_152564
c.G6802T
c.G6727T
p.E2268X
p.E2243X
46.06.625E-5Cirnigliaro2023 G
VPS13B     3-0345-000chr8:
100730081-100730081
TCintronicDe novo--Trost2022 G
VPS13B     mAGRE1925chr8:
100654495-100654497
CTTCexonicMaternalframeshift deletionNM_017890
NM_152564
c.5753_5754del
c.5678_5679del
p.L1918fs
p.L1893fs
--Cirnigliaro2023 G
VPS13B     1-0903-003chr8:
100660486-100660486
GTintronicDe novo--Trost2022 G
VPS13B     mAGRE4550chr8:
100454778-100454778
AACexonicPaternalframeshift insertionNM_017890
NM_152564
c.3360_3361insC
c.3360_3361insC
p.Q1120fs
p.Q1120fs
--Cirnigliaro2023 G
VPS13B     MSSNG00421-009chr8:
100680298-100680298
ATintronicDe novo--Trost2022 G
VPS13B     mAGRE4224chr8:
100443771-100443772
GCGexonicMaternalframeshift deletionNM_017890
NM_152564
c.3090delC
c.3090delC
p.R1030fs
p.R1030fs
--Cirnigliaro2023 G
VPS13B     7-0178-003chr8:
100609162-100609162
GGCAGTACintronicDe novo--Trost2022 G
VPS13B     mAGRE4277chr8:
100286562-100286562
TGsplicingMaternalsplicing20.7-Cirnigliaro2023 G
VPS13B     2-1350-003chr8:
100647756-100647756
ATintronicDe novo--Trost2022 G
VPS13B     AU3760302chr8:
100133467-100133468
TATexonicPaternalframeshift deletionNM_015243
NM_017890
NM_152564
NM_181661
c.1001delA
c.1001delA
c.1001delA
c.1001delA
p.Y334fs
p.Y334fs
p.Y334fs
p.Y334fs
--Cirnigliaro2023 G
VPS13B     PN400499chr8:
100874030-100874030
GAexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.G11146A
c.G11071A
p.A3716T
p.A3691T
36.00.0041Leblond2019 E
VPS13B     AU005214chr8:
100538106-100538106
GCintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     SJD_49.3chr8:
100868040-100868040
GTintronicDe novo--Trost2022 G
VPS13B     2-1315-003chr8:
100300667-100300667
CAintronicDe novo--Yuen2017 G
VPS13B     SP0181459chr8:
100871720-100871720
CAintronicDe novo--Trost2022 G
VPS13B     Li2017:23092chr8:
100733201-100733201
CTexonicUnknownstopgainNM_017890
NM_152564
c.C7051T
c.C6976T
p.R2351X
p.R2326X
50.08.241E-6Li2017 T
VPS13B     SP0081088chr8:
100830817-100830817
TAintronicDe novo--Trost2022 G
VPS13B     3-0832-000chr8:
100863059-100863059
CTintronicDe novo--Trost2022 G
VPS13B     Wang2023:250chr8:
100523347-100523347
CGexonicDe novononsynonymous SNVNM_017890
NM_152564
c.C4315G
c.C4240G
p.L1439V
p.L1414V
15.01-Wang2023 E
VPS13B     3-0703-000chr8:
100770972-100770972
CGintronicDe novo--Trost2022 G
VPS13B     AU2320301chr8:
100790031-100790031
GAintronicDe novo--Trost2022 G
VPS13B     mAGRE4851chr8:
100847553-100847553
GTsplicingPaternalsplicing25.2-Cirnigliaro2023 G
VPS13B     1-0119-004chr8:
100542758-100542759
CTCintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     AU2108302chr8:
100128610-100128610
TGintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     2-1456-004chr8:
100644716-100644716
GAintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     1-0325-003chr8:
100437047-100437047
CTintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     iHART1776chr8:
100830757-100830757
CTexonicPaternalstopgainNM_017890
NM_152564
c.C8515T
c.C8440T
p.R2839X
p.R2814X
50.08.241E-6Ruzzo2019 G
VPS13B     2-0068-003chr8:
100830821-100830821
AGintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     iHART1925chr8:
100654495-100654497
CTTCexonicMaternalframeshift deletionNM_017890
NM_152564
c.5753_5754del
c.5678_5679del
p.L1918fs
p.L1893fs
--Ruzzo2019 G
VPS13B     7-0059-003chr8:
100191146-100191146
GAintronicDe novo--Yuen2017 G
VPS13B     7-0059-003chr8:
100826940-100826940
AGintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     iHART2747chr8:
100847523-100847523
TTAexonicMaternalframeshift insertionNM_017890
NM_152564
c.9789dupA
c.9714dupA
p.V3263fs
p.V3238fs
--Ruzzo2019 G
VPS13B     Li2017:17649chr8:
100403908-100403908
CAexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.C3058A
c.C3058A
p.P1020T
p.P1020T
31.0-Li2017 T
VPS13B     iHART3160chr8:
100133467-100133468
TATexonicPaternalframeshift deletionNM_015243
NM_017890
NM_152564
NM_181661
c.1001delA
c.1001delA
c.1001delA
c.1001delA
p.Y334fs
p.Y334fs
p.Y334fs
p.Y334fs
--Ruzzo2019 G
VPS13B     iHART3163chr8:
100133467-100133468
TATexonicPaternalframeshift deletionNM_015243
NM_017890
NM_152564
NM_181661
c.1001delA
c.1001delA
c.1001delA
c.1001delA
p.Y334fs
p.Y334fs
p.Y334fs
p.Y334fs
--Ruzzo2019 G
VPS13B     2-0022-005chr8:
100565303-100565303
CGintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     Li2017:17674chr8:
100871586-100871586
GCexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.G10997C
c.G10922C
p.S3666T
p.S3641T
21.1-Li2017 T
VPS13B     AU4093304chr8:
100384473-100384473
GAintronicDe novo--Yuen2017 G
VPS13B     5-0105-003chr8:
100156961-100156961
TCintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     1-0065-005chr8:
100743477-100743477
CTintronicDe novo--Yuen2017 G
VPS13B     2-1323-003chr8:
100843101-100843101
GAintronicDe novo--Yuen2017 G
VPS13B     AU4356302chr8:
100707442-100707442
TCintronicDe novo--Yuen2017 G
VPS13B     1-0554-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
Yuen2017 G
VPS13B     2-1617-003chr8:
100247292-100247292
CTintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     AU4356302chr8:
100707439-100707439
GTintronicDe novo--Yuen2017 G
VPS13B     DEASD_3001_001chr8:
100844842-100844842
AACexonicDe novoframeshift insertionNM_017890
NM_152564
c.9652dupC
c.9577dupC
p.V3217fs
p.V3192fs
--Fu2022 E
VPS13B     AU-17800chr8:
100205240-100205240
TGexonicInheritednonsynonymous SNVNM_015243
NM_017890
NM_152564
c.T2470G
c.T2470G
c.T2470G
p.S824A
p.S824A
p.S824A
3.7722.0E-4Yu2013 E
VPS13B     Yalcintepe2021:5chr8:
100866182-100866182
CTexonicMaternalnonsynonymous SNVNM_017890
NM_152564
c.C10640T
c.C10565T
p.T3547I
p.T3522I
19.165.766E-5Yalcintepe2021 T
VPS13B     AU-21100chr8:
100887727-100887727
GGCexonicInheritedframeshift insertionNM_017890
NM_152564
c.11903dupC
c.11828dupC
p.A3968fs
p.A3943fs
-8.237E-6Yu2013 E
VPS13B     PN400391chr8:
100874030-100874030
GAexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.G11146A
c.G11071A
p.A3716T
p.A3691T
36.00.0041Leblond2019 E
VPS13B     SSC06417chr8:
100168821-100168821
GAexonicDe novosynonymous SNVNM_015243
NM_017890
NM_152564
c.G2058A
c.G2058A
c.G2058A
p.R686R
p.R686R
p.R686R
--Fu2022 E
Lim2017 E
Trost2022 G
VPS13B     1-0755-003chr8:
100281357-100281357
TCintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     11341.p1chr8:
100846937-100846937
CTintronicDe novo--Turner2016 G
VPS13B     AU4152303chr8:
100325762-100325762
GAintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     14153.p1chr8:
100636265-100636265
GTintronicDe novo--Turner2016 G
VPS13B     Li2017:19625chr8:
100587894-100587894
GAexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.G5033A
c.G4958A
p.R1678Q
p.R1653Q
25.92.48E-5Li2017 T
VPS13B     3-0396-000chr8:
100086201-100086201
AGintronicDe novo--Yuen2016 G
VPS13B     PN400417chr8:
100874030-100874030
GAexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.G11146A
c.G11071A
p.A3716T
p.A3691T
36.00.0041Leblond2019 E
VPS13B     2-1155-003chr8:
100875359-100875359
TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
VPS13B     Cukier2014:17678chr8:
100832259-100832259
AGexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.A8978G
c.A8903G
p.N2993S
p.N2968S
23.70.0032Cukier2014 E
VPS13B     2-1619-003chr8:
100795771-100795771
AGintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     PN400341chr8:
100654570-100654570
CTexonicUnknownstopgainNM_017890
NM_152564
c.C5827T
c.C5752T
p.R1943X
p.R1918X
46.0-Leblond2019 E
VPS13B     2-1620-004chr8:
100269483-100269483
GTintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     AU4344301chr8:
100336849-100336849
GAintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     2-1460-003chr8:
100388818-100388818
GAintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     PN400457chr8:
100883013-100883018
GTATTTGexonicUnknownframeshift deletionNM_017890
NM_152564
c.11469_11473del
c.11394_11398del
p.G3823fs
p.G3798fs
--Leblond2019 E
VPS13B     1-0320-004chr8:
100681426-100681426
GAintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     Li2017:4chr8:
100871586-100871586
GCexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.G10997C
c.G10922C
p.S3666T
p.S3641T
21.1-Li2017 T
VPS13B     2-1460-003chr8:
100429990-100429990
CGintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     A28chr8:
100156292-100156293
CTCintronicDe novo--Wu2018 G
VPS13B     2-1094-005chr8:
100026551-100026551
GAintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     PN400424chr8:
100874030-100874030
GAexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.G11146A
c.G11071A
p.A3716T
p.A3691T
36.00.0041Leblond2019 E
VPS13B     SP0020352chr8:
100523754-100523754
AATintronicDe novo-2.0E-4Fu2022 E
VPS13B     SP0072654chr8:
100493958-100493958
ACexonicDe novononsynonymous SNVNM_017890
NM_152564
c.A3798C
c.A3798C
p.R1266S
p.R1266S
11.74-Fu2022 E
Trost2022 G
Zhou2022 GE
VPS13B     AU007503chr8:
100264852-100264852
GTintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     AU009904chr8:
100602118-100602118
TCintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     AU050910chr8:
100111603-100111603
TCintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     PN400380chr8:
100874030-100874030
GAexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.G11146A
c.G11071A
p.A3716T
p.A3691T
36.00.0041Leblond2019 E
VPS13B     1-0455-003chr8:
100488224-100488224
GAintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     2-1280-003chr8:
100030011-100030011
CGintronicDe novo--Yuen2016 G
Yuen2017 G
VPS13B     REACH000686chr8:
100025439-100025439
GAupstreamDe novo--Trost2022 G
VPS13B     12975.p1chr8:
100168821-100168821
GAexonicDe novosynonymous SNVNM_015243
NM_017890
NM_152564
c.G2058A
c.G2058A
c.G2058A
p.R686R
p.R686R
p.R686R
--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
VPS13B     1-0885-003chr8:
100217481-100217481
AGintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     3-0134-000chr8:
100313478-100313478
CTintronicDe novo--Trost2022 G
Yuen2017 G
VPS13B     AU039304chr8:
100226788-100226788
CTintronicDe novo--Yuen2017 G
VPS13B     7-0332-003chr8:
100167893-100167893
AGintronicDe novo--Trost2022 G
VPS13B     REACH000182chr8:
100171104-100171104
GTintronicDe novo--Trost2022 G
VPS13B     1-0554-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
VPS13B     5-0053-003chr8:
100106637-100106637
GAintronicDe novo--Trost2022 G
VPS13B     2-1195-003chr8:
100537148-100537148
GAintronicDe novo--Yuen2016 G
Yuen2017 G
VPS13B     5-5031-004chr8:
100045983-100045983
GTintronicDe novo--Trost2022 G
VPS13B     PN400259chr8:
100874030-100874030
GAexonicUnknownnonsynonymous SNVNM_017890
NM_152564
c.G11146A
c.G11071A
p.A3716T
p.A3691T
36.00.0041Leblond2019 E
VPS13B     7-0457-003chr8:
100084974-100084974
CTintronicDe novo--Trost2022 G
VPS13B     REACH000686chr8:
100026216-100026216
GAintronicDe novo--Trost2022 G
VPS13B     5-0077-003chr8:
100026626-100026626
GAintronicDe novo--Trost2022 G
Source Variant Information

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Paper alias:

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Paper Information
Title
Authors
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URL
Pubmed
Subject count
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.
Variant event count
Curation notesView
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