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Items: 1 to 100 of 654

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:57174452-90309110
GRCh38:
Chr3:57140424-90259960
LOC126806726, LOC126806727, LOC126806728, LOC126806729, LOC126806730, LOC126806731, LOC126806732, LOC126806733, LOC126806734, LOC126806735, LOC126806736, LOC126806737, LOC126806738, LOC126806739, LOC126806740, LOC126806741, LOC126806742, LOC128031834, LOC339902, LRIG1, MAGI1, MAGI1-AS1, MAGI1-IT1, MDFIC2, MIR1284, MIR1324, MIR3136, MIR3923, MIR4272, MIR4273, MIR4444-2, MIR4795, MIR548BB, MIR5688, MITF, NPCDR1, PDE12, PDHB, PDZRN3, PDZRN3-AS1, POU1F1, PPP4R2, PRICKLE2, PRICKLE2-AS1, PRICKLE2-AS2, PRICKLE2-AS3, PRICKLE2-DT, PROK2, PSMD6, PSMD6-AS2, PTPRG, PTPRG-AS1, PXK, ROBO1, ROBO2, RPP14, RYBP, SAMMSON, SCAANT1, SHQ1, SLC25A26, SLMAP, SNORA95, SNTN, SUCLG2, SUCLG2-DT, SYNPR, SYNPR-AS1, TAFA1, TAFA4, THOC7, THOC7-AS1, TMF1, UBA3, VGLL3, ZNF654, ZNF717, ABHD6, ACOX2, ADAMTS9, ADAMTS9-AS1, ADAMTS9-AS2, APPL1, ARF4, ARF4-AS1, ARL6IP5, ASB14, ATXN7, C3orf14, C3orf38, C3orf49, CADM2, CADM2-AS1, CADM2-AS2, CADPS, CFAP20DC, CFAP20DC-AS1, CGGBP1, CHMP2B, CNTN3, CSNKA2IP, DENND6A, DENND6A-DT, DNAH12, DNASE1L3, EBLN2, EIF4E3, EOGT, EPHA3, FAM107A, FAM3D, FAM3D-AS1, FEZF2, FHIT, FLNB, FLNB-AS1, FOXP1, FOXP1-AS1, FOXP1-DT, FOXP1-IT1, FRG2C, FRMD4B, GBE1, GPR27, GXYLT2, HESX1, HTD2, HTR1F, IL17RD, KBTBD8, KCTD6, LINC00506, LINC00698, LINC00870, LINC00877, LINC00960, LINC00971, LINC00994, LINC02005, LINC02008, LINC02018, LINC02025, LINC02027, LINC02040, LINC02047, LINC02050, LINC02070, LINC02077, LMOD3, LOC100130345, LOC101927296, LOC101927374, LOC105377102, LOC105377143, LOC105377146, LOC105377162, LOC107325936, LOC107988030, LOC107988038, LOC107988042, LOC107988044, LOC108167314, LOC108281136, LOC108281142, LOC108660406, LOC110120604, LOC110120681, LOC110120682, LOC110120720, LOC110120791, LOC110120812, LOC110120986, LOC110120994, LOC110121007, LOC110121053, LOC110121087, LOC110121119, LOC110121240, LOC111562376, LOC111589208, LOC112935952, LOC112935953, LOC112935954, LOC112935955, LOC112935956, LOC112935957, LOC112935958, LOC112935959, LOC112935961, LOC112935962, LOC114004381, LOC115995512, LOC115995513, LOC115995514, LOC121009674, LOC121009675, LOC121009676, LOC121009677, LOC121009678, LOC121009679, LOC121009680, LOC121009681, LOC121009682, LOC121725147, LOC121725148, LOC121725149, LOC122965318, LOC122965319, LOC122965320, LOC122965321, LOC122965322, LOC122965323, LOC122965324, LOC122965325, LOC122965326, LOC122965327, LOC123000067, LOC123000068, LOC123000069, LOC123000070, LOC123000071, LOC123000072, LOC123002301, LOC123002302, LOC123002303, LOC123002304, LOC123002305, LOC123002306, LOC123002307, LOC123002308, LOC123002309, LOC123002310, LOC123002311, LOC123002312, LOC126806690, LOC126806691, LOC126806692, LOC126806693, LOC126806694, LOC126806695, LOC126806696, LOC126806697, LOC126806698, LOC126806699, LOC126806700, LOC126806701, LOC126806702, LOC126806703, LOC126806704, LOC126806705, LOC126806706, LOC126806707, LOC126806708, LOC126806709, LOC126806710, LOC126806711, LOC126806712, LOC126806713, LOC126806714, LOC126806715, LOC126806716, LOC126806717, LOC126806718, LOC126806719, LOC126806720, LOC126806721, LOC126806722, LOC126806723, LOC126806724, LOC126806725
See casesPathogenic
(Jul 25, 2012)
no assertion criteria provided
2.
GRCh37:
Chr3:64746924-78459248
GRCh38:
Chr3:64761248-78410098
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr3:67441430-73463152
GRCh38:
Chr3:67391006-73414001
See casesPathogenic
(Dec 30, 2009)
no assertion criteria provided
4.
GRCh37:
Chr3:68378130-76813470
GRCh38:
Chr3:68328980-76764319
See casesLikely pathogenic
(Jan 25, 2013)
no assertion criteria provided
5.
GRCh37:
Chr3:69477219-71026999
GRCh38:
Chr3:69428068-70977848
See casesLikely benign
(Jul 18, 2014)
no assertion criteria provided
6.
GRCh37:
Chr3:70345318-74914229
GRCh38:
Chr3:70296167-74865078
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr3:70467232-71487572
GRCh38:
Chr3:70418081-71438421
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr3:70992771-71911040
GRCh38:
Chr3:70943620-71861889
See casesPathogenic
(Aug 26, 2011)
no assertion criteria provided
9.
GRCh37:
Chr3:71004369
GRCh38:
Chr3:70955218
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr3:71004676
GRCh38:
Chr3:70955525
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr3:71004720-71004721
GRCh38:
Chr3:70955569-70955570
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr3:71004721-71004722
GRCh38:
Chr3:70955570-70955571
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesBenign
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr3:71004789-71004790
GRCh38:
Chr3:70955638-70955639
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr3:71004977-71004978
GRCh38:
Chr3:70955826-70955827
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr3:71004981-71004982
GRCh38:
Chr3:70955830-70955831
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr3:71004983-71004984
GRCh38:
Chr3:70955832-70955833
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr3:71004983-71004984
GRCh38:
Chr3:70955832-70955833
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr3:71004983-71004984
GRCh38:
Chr3:70955832-70955833
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr3:71004983-71004984
GRCh38:
Chr3:70955832-70955833
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr3:71004983
GRCh38:
Chr3:70955832
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr3:71004983
GRCh38:
Chr3:70955832
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr3:71004984-71004987
GRCh38:
Chr3:70955833-70955836
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr3:71004984-71004985
GRCh38:
Chr3:70955833-70955834
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr3:71004985
GRCh38:
Chr3:70955834
FOXP1not providedBenign
(Dec 1, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr3:71004995
GRCh38:
Chr3:70955844
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr3:71005094-71005095
GRCh38:
Chr3:70955943-70955944
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr3:71005206
GRCh38:
Chr3:70956055
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr3:71005560-71005561
GRCh38:
Chr3:70956409-70956410
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr3:71005566-71005567
GRCh38:
Chr3:70956415-70956416
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr3:71005566
GRCh38:
Chr3:70956415
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr3:71005640-71005641
GRCh38:
Chr3:70956489-70956490
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr3:71005916-71005925
GRCh38:
Chr3:70956765-70956774
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr3:71006193-71006194
GRCh38:
Chr3:70957042-70957043
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr3:71006305-71006306
GRCh38:
Chr3:70957154-70957155
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr3:71006728-71006729
GRCh38:
Chr3:70957577-70957578
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr3:71006856-71006857
GRCh38:
Chr3:70957705-70957706
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr3:71007162-71007163
GRCh38:
Chr3:70958011-70958012
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr3:71007272-71007273
GRCh38:
Chr3:70958121-70958122
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesBenign
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr3:71007347-71007348
GRCh38:
Chr3:70958196-70958197
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr3:71007357-71007361
GRCh38:
Chr3:70958206-70958210
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr3:71007358-71007361
GRCh38:
Chr3:70958207-70958210
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr3:71007367-71007368
GRCh38:
Chr3:70958216-70958217
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr3:71007469-71007470
GRCh38:
Chr3:70958318-70958319
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesBenign
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr3:71007654-71007655
GRCh38:
Chr3:70958503-70958504
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr3:71007802
GRCh38:
Chr3:70958651
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr3:71007831
GRCh38:
Chr3:70958680
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr3:71007887-71007888
GRCh38:
Chr3:70958736-70958737
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr3:71007887
GRCh38:
Chr3:70958736
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr3:71007888
GRCh38:
Chr3:70958737
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr3:71007889-71007891
GRCh38:
Chr3:70958738-70958740
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr3:71007889
GRCh38:
Chr3:70958738
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr3:71007918-71007919
GRCh38:
Chr3:70958767-70958768
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr3:71007919
GRCh38:
Chr3:70958768
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr3:71007922
GRCh38:
Chr3:70958771
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr3:71008339-71008340
GRCh38:
Chr3:70959188-70959189
FOXP1Intellectual Disability with Language Impairment and Autistic FeaturesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr3:71008341-71008342
GRCh38:
Chr3:70959190-70959191
FOXP1Intellectual Disability with Language Impairment and Autistic Features, not providedBenign
(Aug 18, 2019)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr3:71008392
GRCh38:
Chr3:70959241
FOXP1not specifiedUncertain significance
(Nov 17, 2015)
criteria provided, single submitter
58.
GRCh37:
Chr3:71008399-71008400
GRCh38:
Chr3:70959248-70959249
FOXP1not providedLikely benign
(Jun 29, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr3:71008408
GRCh38:
Chr3:70959257
FOXP1D691G, D117G, D674G, D599G, D675G, D574G, D575Gnot providedLikely benign
(Aug 10, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr3:71008412
GRCh38:
Chr3:70959261
FOXP1E116Q, E573Q, E574Q, E598Q, E673Q, E674Q, E690Qnot providedUncertain significance
(Aug 24, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr3:71008412
GRCh38:
Chr3:70959261
FOXP1E674K, E574K, E598K, E690K, E573K, E673Knot provided, Intellectual disability-severe speech delay-mild dysmorphism syndromeUncertain significance
(Aug 27, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr3:71008414
GRCh38:
Chr3:70959263
FOXP1N572fs, N573fs, N597fs, N672fs, N673fs, N689fsIntellectual disability-severe speech delay-mild dysmorphism syndromePathogenic
(May 4, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr3:71008431
GRCh38:
Chr3:70959280
FOXP1not providedLikely benign
(Sep 12, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr3:71008450
GRCh38:
Chr3:70959299
FOXP1F560S, F561S, F585S, F660S, F661S, F677SIntellectual disability-severe speech delay-mild dysmorphism syndromeUncertain significance
(Apr 9, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr3:71008455
GRCh38:
Chr3:70959304
FOXP1not providedLikely benign
(Sep 2, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr3:71008467
GRCh38:
Chr3:70959316
FOXP1Inborn genetic diseasesLikely benign
(Jul 17, 2019)
criteria provided, single submitter
67.
GRCh37:
Chr3:71008468
GRCh38:
Chr3:70959317
FOXP1A554V, A555V, A579V, A654V, A655V, A671Vnot providedUncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr3:71008469
GRCh38:
Chr3:70959318
FOXP1A554T, A555T, A579T, A654T, A655T, A671T, A97Tnot providedUncertain significance
(Sep 23, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr3:71008471
GRCh38:
Chr3:70959320
FOXP1T670I, T96I, T554I, T653I, T553I, T578I, T654Inot providedUncertain significance
(Sep 2, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr3:71008475
GRCh38:
Chr3:70959324
FOXP1T553A, T653A, T577A, T669A, T95A, T552A, T652Anot providedUncertain significance
(Apr 16, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr3:71008477
GRCh38:
Chr3:70959326
FOXP1V652G, V668G, V94G, V552G, V551G, V576G, V651Gnot providedBenign
(Sep 27, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr3:71008483
GRCh38:
Chr3:70959332
FOXP1S549Y, S550Y, S574Y, S649Y, S650Y, S666Ynot providedUncertain significance
(Oct 27, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr3:71008484
GRCh38:
Chr3:70959333
FOXP1S549T, S574T, S649T, S550T, S650T, S666T, S92Tnot providedUncertain significance
(Jun 14, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr3:71008496
GRCh38:
Chr3:70959345
FOXP1E646K, E546K, E570K, E645K, E545K, E662KInborn genetic diseasesUncertain significance
(Mar 1, 2017)
criteria provided, single submitter
75.
GRCh37:
Chr3:71008498
GRCh38:
Chr3:70959347
FOXP1A544G, A87G, A569G, A644G, A645G, A661G, A545Gnot providedUncertain significance
(Jul 11, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr3:71008529
GRCh38:
Chr3:70959378
FOXP1V559I, V635I, V651I, V535I, V634I, V77I, V534Inot provided, Inborn genetic diseasesUncertain significance
(Jun 27, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr3:71008530
GRCh38:
Chr3:70959379
FOXP1not providedUncertain significance
(Mar 4, 2015)
criteria provided, single submitter
78.
GRCh37:
Chr3:71008541
GRCh38:
Chr3:70959390
FOXP1H530Y, H531Y, H555Y, H630Y, H631Y, H647YIntellectual disability-severe speech delay-mild dysmorphism syndrome, not providedUncertain significance
(Jun 9, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr3:71008546-71008547
GRCh38:
Chr3:70959395-70959396
FOXP1not providedLikely benign
(Jun 5, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr3:71008546
GRCh38:
Chr3:70959395
FOXP1Inborn genetic diseases, not providedLikely benign
(Sep 2, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr3:71008547
GRCh38:
Chr3:70959396
FOXP1Inborn genetic diseases, not providedBenign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr3:71008557
GRCh38:
Chr3:70959406
FOXP1not providedBenign
(Oct 22, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr3:71008559
GRCh38:
Chr3:70959408
FOXP1not providedBenign
(Aug 16, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr3:71008679
GRCh38:
Chr3:70959528
FOXP1not providedLikely benign
(Jan 13, 2019)
criteria provided, single submitter
85.
GRCh37:
Chr3:71014836
GRCh38:
Chr3:70965685
FOXP1not providedBenign
(Dec 17, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr3:71014892
GRCh38:
Chr3:70965741
FOXP1not providedBenign
(Oct 17, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr3:71015021
GRCh38:
Chr3:70965870
FOXP1not provided, not specified, Intellectual disability-severe speech delay-mild dysmorphism syndrome
Benign
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr3:71015030
GRCh38:
Chr3:70965879
FOXP1not providedLikely benign
(Apr 25, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr3:71015033
GRCh38:
Chr3:70965882
FOXP1not providedLikely benign
(Feb 17, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr3:71015036
GRCh38:
Chr3:70965885
FOXP1not providedLikely pathogenic
(Mar 1, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr3:71015040
GRCh38:
Chr3:70965889
FOXP1not providedPathogenic
(Sep 6, 2019)
criteria provided, single submitter
92.
GRCh37:
Chr3:71015042
GRCh38:
Chr3:70965891
FOXP1V529M, V530M, V554M, V629M, V630M, V646Mnot provided, Intellectual disability-severe speech delay-mild dysmorphism syndromeUncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr3:71015042
GRCh38:
Chr3:70965891
FOXP1V630L, V554L, V629L, V646L, V529L, V530LIntellectual disabilityLikely benign
(Jan 1, 2017)
criteria provided, single submitter
94.
GRCh37:
Chr3:71015051
GRCh38:
Chr3:70965900
FOXP1M627V, M643V, M626V, M526V, M527V, M551V, M69Vnot providedUncertain significance
(Jan 2, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr3:71015058
GRCh38:
Chr3:70965907
FOXP1R548S, R624S, R623S, R640S, R523S, R524S, R66SInborn genetic diseasesUncertain significance
(Dec 1, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr3:71015071
GRCh38:
Chr3:70965920
FOXP1S619N, S519N, S636N, S520N, S544N, S620N, S62Nnot providedUncertain significance
(Aug 15, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr3:71015079
GRCh38:
Chr3:70965928
FOXP1E516D, E517D, E541D, E59D, E616D, E617D, E633Dnot providedUncertain significance
(May 18, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr3:71015081
GRCh38:
Chr3:70965930
FOXP1E516K, E517K, E541K, E616K, E617K, E633Knot providedUncertain significance
(Aug 28, 2019)
criteria provided, single submitter
99.
GRCh37:
Chr3:71015082
GRCh38:
Chr3:70965931
FOXP1not provided, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Oct 19, 2022)
criteria provided, conflicting interpretations
100.
GRCh37:
Chr3:71015087
GRCh38:
Chr3:70965936
FOXP1S539G, S57G, S615G, S614G, S514G, S631G, S515Gnot providedUncertain significance
(Mar 28, 2022)
criteria provided, single submitter
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