U.S. flag

An official website of the United States government

Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 86

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh38:
Chr1:230178121-243646135
ACTN2, AGT, AKT3, ARID4B, ARV1, B3GALNT2, BECN2, C1orf131, C1orf198, CAPN9, CEP170, CHML, CHRM3, CHRM3-AS1, CHRM3-AS2, COA6, COA6-AS1, COG2, DISC1, DISC1-IT1, DISC2, EDARADD, EGLN1, ERO1B, EXO1, EXOC8, FAM89A, FH, FMN2, GALNT2, GGPS1, GNG4, GNPAT, GPR137B, GREM2, HEATR1, IRF2BP2, KCNK1, KMO, LGALS8, LGALS8-AS1, LINC00184, LINC00582, LINC01132, LINC01139, LINC01347, LINC01348, LINC01354, LINC01737, LINC01744, LINC01745, LINC02768, LINC02961, LINC02971, LINC03108, LNCATV, LOC100506929, LOC101927604, LOC101927787, LOC105373209, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC108004528, LOC110121205, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC111365197, LOC111365208, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC121725076, LOC122152333, LOC122152334, LOC122152335, LOC122152336, LOC122152337, LOC122152338, LOC122152339, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC122152346, LOC122152347, LOC122152348, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122526782, LOC126264117, LOC126806042, LOC126806043, LOC126806044, LOC126806045, LOC126806046, LOC126806047, LOC126806048, LOC126806049, LOC126806050, LOC126806051, LOC126806052, LOC126806053, LOC126806054, LOC126806055, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC126806066, LOC126806067, LOC126806068, LOC126806069, LOC126806070, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC129388775, LOC129388776, LOC129388777, LOC129388778, LOC129388779, LOC129388780, LOC129388781, LOC129388782, LOC129388783, LOC129388784, LOC129388785, LOC129388786, LOC129388787, LOC129388788, LOC129388789, LOC129388790, LOC129388791, LOC129388792, LOC129388793, LOC129388794, LOC129388795, LOC129388796, LOC129388797, LOC129388798, LOC129388799, LOC129869688, LOC129929020, LOC129932752, LOC129932753, LOC129932754, LOC129932755, LOC129932756, LOC129932757, LOC129932758, LOC129932759, LOC129932760, LOC129932761, LOC129932762, LOC129932763, LOC129932764, LOC129932765, LOC129932766, LOC129932767, LOC129932768, LOC129932769, LOC129932770, LOC129932771, LOC129932772, LOC129932773, LOC129932774, LOC129932775, LOC129932776, LOC129932777, LOC129932778, LOC129932779, LOC129932780, LOC129932781, LOC129932782, LOC129932783, LOC129932784, LOC129932785, LOC129932786, LOC129932787, LOC129932788, LOC129932789, LOC129932790, LOC129932791, LOC129932792, LOC129932793, LOC129932794, LOC129932795, LOC129932796, LOC129932797, LOC129932798, LOC129932799, LOC129932800, LOC129932801, LOC129932802, LOC129932803, LOC129932804, LOC129932805, LOC129932806, LOC129932807, LOC129932808, LOC129932809, LOC129932810, LOC129932811, LOC129932812, LOC129932813, LOC129932814, LOC129932815, LOC129932816, LOC129932817, LOC129932818, LOC129932819, LOC129932820, LOC129932821, LOC129932822, LOC129932823, LOC129932824, LOC129932825, LOC129932826, LOC129932827, LOC129932828, LOC129932829, LOC129932830, LOC129932831, LOC129932832, LOC129932833, LOC129932834, LOC129932835, LOC129932836, LOC129932837, LOC129932838, LOC129932839, LOC129932840, LOC129932841, LOC129932842, LOC129932843, LOC129932844, LOC129932845, LOC129932846, LOC129932847, LOC129932848, LOC129932849, LOC129932850, LOC129932851, LOC129932852, LOC129932853, LOC129932854, LOC129932855, LOC129932856, LOC129932857, LOC129932858, LOC129932859, LOC129932860, LOC129932861, LOC129932862, LOC129932863, LOC129932864, LOC129932865, LOC129932866, LOC129932867, LOC129932868, LOC129932869, LOC129932870, LOC129932871, LOC129932872, LOC129932873, LOC129932874, LOC129932875, LOC129932876, LOC129932877, LOC129932878, LOC129932879, LOC129932880, LOC129932881, LOC129932882, LOC129932883, LOC129932884, LOC129932885, LOC129932886, LOC129932887, LOC129932888, LOC129932889, LOC129932890, LOC129932891, LOC132088676, LOC132088677, LOC132088678, LOC132088679, LOC132088680, LOC132088681, LOC132088683, LOC132088684, LOC132088685, LOC132088686, LOC132090677, LYST, MAP10, MAP1LC3C, MAP3K21, MIR1182, MIR1537, MIR3123, MIR4427, MIR4428, MIR4671, MIR4677, MIR4753, MT1HL1, MTR, NID1, NTPCR, OPN3, PCNX2, PGBD5, PLD5, RBM34, RGS7, RYR2, SDCCAG8, SIPA1L2, SLC35F3, SLC35F3-AS1, SNORA14B, SPRTN, TARBP1, TBCE, TOMM20, TRIM67, TRIM67-AS1, TSNAX, TSNAX-DISC1, TTC13, WDR64, ZP4
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Pathogenic
(Aug 24, 2023)		criteria provided, single submitter
2.
GRCh37:
Chr1:243727083
GRCh38:
Chr1:243563781
AKT3G296EMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Uncertain significance
(Jan 15, 2019)		criteria provided, single submitter
3.
GRCh37:
Chr1:243652296-243859038
AKT3, SDCCAG8Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Pathogenic
(Oct 20, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr1:243801063
GRCh38:
Chr1:243637761
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Oct 7, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr1:243809180
GRCh38:
Chr1:243645878
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Apr 25, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr1:243675747-243675748
GRCh38:
Chr1:243512445-243512446
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Apr 13, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr1:243809220
GRCh38:
Chr1:243645918
AKT3A135VMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Uncertain significance
(May 20, 2022)		criteria provided, single submitter
8.
GRCh37:
Chr1:243800948
GRCh38:
Chr1:243637646
AKT3M176VMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Uncertain significance
(Feb 25, 2022)		criteria provided, single submitter
9.
GRCh37:
Chr1:243809265
GRCh38:
Chr1:243645963
AKT3S120NMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Uncertain significance
(Aug 9, 2022)		criteria provided, single submitter
10.
GRCh37:
Chr1:243800926
GRCh38:
Chr1:243637624
AKT3V183AMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Uncertain significance
(Aug 23, 2022)		criteria provided, single submitter
11.
GRCh37:
Chr1:243727037
GRCh38:
Chr1:243563735
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Aug 9, 2022)		criteria provided, single submitter
12.
GRCh37:
Chr1:243675748
GRCh38:
Chr1:243512446
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Mar 13, 2022)		criteria provided, single submitter
13.
GRCh37:
Chr1:243708797
GRCh38:
Chr1:243545495
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Benign
(Nov 1, 2022)		criteria provided, single submitter
14.
GRCh37:
Chr1:244006416
GRCh38:
Chr1:243843114
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Benign
(Aug 23, 2022)		criteria provided, single submitter
15.
GRCh37:
Chr1:243858880
GRCh38:
Chr1:243695578
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Mar 4, 2022)		criteria provided, single submitter
16.
GRCh37:
Chr1:244006415
GRCh38:
Chr1:243843113
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Benign
(Jan 17, 2022)		criteria provided, single submitter
17.
GRCh37:
Chr1:243708906
GRCh38:
Chr1:243545604
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Oct 25, 2022)		criteria provided, single submitter
18.
GRCh37:
Chr1:243778461
GRCh38:
Chr1:243615159
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Sep 4, 2021)		criteria provided, single submitter
19.
GRCh37:
Chr1:243859028
GRCh38:
Chr1:243695726
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Oct 27, 2021)		criteria provided, single submitter
20.
GRCh37:
Chr1:243668605
GRCh38:
Chr1:243505303
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Dec 4, 2020)		criteria provided, single submitter
21.
GRCh37:
Chr1:243675638
GRCh38:
Chr1:243512336
AKT3P448TMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Aug 5, 2021)		criteria provided, single submitter
22.
GRCh37:
Chr1:243675738
GRCh38:
Chr1:243512436
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Jul 6, 2022)		criteria provided, single submitter
23.
GRCh37:
Chr1:243809318
GRCh38:
Chr1:243646016
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Feb 24, 2021)		criteria provided, single submitter
24.
GRCh37:
Chr1:243778469
GRCh38:
Chr1:243615167
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Jul 18, 2022)		criteria provided, single submitter
25.
GRCh37:
Chr1:243716144
GRCh38:
Chr1:243552842
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Jul 19, 2022)		criteria provided, single submitter
26.
GRCh37:
Chr1:243859036
GRCh38:
Chr1:243695734
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Oct 3, 2022)		criteria provided, single submitter
27.
GRCh37:
Chr1:243716015
GRCh38:
Chr1:243552713
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Benign
(Jul 15, 2022)		criteria provided, single submitter
28.
GRCh37:
Chr1:243801060-243801061
GRCh38:
Chr1:243637758-243637759
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Benign
(Aug 3, 2022)		criteria provided, single submitter
29.
GRCh37:
Chr1:243716198
GRCh38:
Chr1:243552896
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Aug 10, 2022)		criteria provided, single submitter
30.
GRCh37:
Chr1:243727013
GRCh38:
Chr1:243563711
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Oct 22, 2022)		criteria provided, single submitter
31.
GRCh37:
Chr1:243727162
GRCh38:
Chr1:243563860
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(May 18, 2021)		criteria provided, single submitter
32.
GRCh37:
Chr1:243736318
GRCh38:
Chr1:243573016
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Aug 9, 2021)		criteria provided, single submitter
33.
GRCh37:
Chr1:243858874
GRCh38:
Chr1:243695572
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Mar 20, 2021)		criteria provided, single submitter
34.
GRCh37:
Chr1:243828205-243828208
GRCh38:
Chr1:243664903-243664906
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Benign
(Oct 8, 2022)		criteria provided, single submitter
35.
GRCh37:
Chr1:243716093
GRCh38:
Chr1:243552791
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Jul 5, 2022)		criteria provided, single submitter
36.
GRCh37:
Chr1:243776984
GRCh38:
Chr1:243613682
AKT3N229HMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely pathogenic
(Dec 2, 2021)		criteria provided, single submitter
37.
GRCh37:
Chr1:243809215
GRCh38:
Chr1:243645913
AKT3T137AMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Uncertain significance
(Aug 26, 2021)		criteria provided, single submitter
38.
GRCh37:
Chr1:243809214
GRCh38:
Chr1:243645912
AKT3T137IMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Uncertain significance
(Feb 23, 2022)		criteria provided, single submitter
39.
GRCh37:
Chr1:243675705
GRCh38:
Chr1:243512403
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Uncertain significance
(Aug 31, 2021)		criteria provided, single submitter
40.
GRCh37:
Chr1:243708807
GRCh38:
Chr1:243545505
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Uncertain significance
(Sep 6, 2022)		criteria provided, single submitter
41.
GRCh37:
Chr1:243663038-243668656
AKT3, SDCCAG8Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Uncertain significance
(Aug 20, 2021)		criteria provided, single submitter
42.
GRCh37:
Chr1:243708861
GRCh38:
Chr1:243545559
AKT3R401KMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Uncertain significance
(Oct 24, 2021)		criteria provided, single submitter
43.
GRCh37:
Chr1:243809207
GRCh38:
Chr1:243645905
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Sep 20, 2022)		criteria provided, single submitter
44.
GRCh37:
Chr1:243727019
GRCh38:
Chr1:243563717
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Uncertain significance
(Feb 9, 2022)		criteria provided, single submitter
45.
GRCh37:
Chr1:243911510
GRCh38:
Chr1:243748208
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Uncertain significance
(Feb 26, 2021)		criteria provided, single submitter
46.
GRCh37:
Chr1:243828128
GRCh38:
Chr1:243664826
AKT3L77HMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely pathogenic
(Oct 31, 2021)		no assertion criteria provided
47.
GRCh37:
Chr1:243800936
GRCh38:
Chr1:243637634
AKT3K180EMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Pathogenic
(Oct 2, 2021)		criteria provided, single submitter
48.
GRCh37:
Chr1:243828121
GRCh38:
Chr1:243664819
AKT3W79CMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely pathogenic
(Sep 20, 2021)		criteria provided, single submitter
49.
GRCh37:
Chr1:243716112
GRCh38:
Chr1:243552810
AKT3E361GOvergrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genesLikely benign
(Feb 11, 2022)		reviewed by expert panel
FDA Recognized Database
50.
GRCh37:
Chr1:244006457
GRCh38:
Chr1:243843155
AKT3I6VMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, not provided, Inborn genetic diseases
Conflicting interpretations of pathogenicity
(Jul 19, 2022)		criteria provided, conflicting interpretations
51.
GRCh37:
Chr1:243736240
GRCh38:
Chr1:243572938
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, not providedBenign/Likely benign
(Jan 1, 2023)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr1:243858900
GRCh38:
Chr1:243695598
AKT3not provided, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr1:243668593
GRCh38:
Chr1:243505291
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Benign
(May 14, 2019)		criteria provided, single submitter
54.
GRCh37:
Chr1:243716230
GRCh38:
Chr1:243552928
AKT3D322YMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely pathogenic
(Aug 13, 2021)		criteria provided, single submitter
55.
GRCh37:
Chr1:243727160
GRCh38:
Chr1:243563858
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Uncertain significance
(Sep 1, 2021)		criteria provided, single submitter
56.
GRCh37:
Chr1:243716231
GRCh38:
Chr1:243552929
AKT3N321KMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Pathogenic
(Dec 21, 2020)		no assertion criteria provided
57.
GRCh37:
Chr1:243776987
GRCh38:
Chr1:243613685
AKT3V228IMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Uncertain significance
(Aug 31, 2021)		criteria provided, single submitter
58.
GRCh37:
Chr1:243668594
GRCh38:
Chr1:243505292
AKT3P466Lnot provided, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Conflicting interpretations of pathogenicity
(Apr 1, 2023)		criteria provided, conflicting interpretations
59.
GRCh37:
Chr1:243828120
GRCh38:
Chr1:243664818
AKT3T80SMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Uncertain significance
(Aug 27, 2021)		criteria provided, single submitter
60.
GRCh37:
Chr1:243708822
GRCh38:
Chr1:243545520
AKT3Y414CMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Uncertain significance
(Feb 25, 2019)		criteria provided, single submitter
61.
GRCh37:
Chr1:243736244
GRCh38:
Chr1:243572942
AKT3V268Anot provided, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Conflicting interpretations of pathogenicity
(Mar 1, 2023)		criteria provided, conflicting interpretations
62.
GRCh37:
Chr1:243736295
GRCh38:
Chr1:243572993
AKT3Y251CMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, not providedUncertain significance
(Jul 1, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr1:243675650
GRCh38:
Chr1:243512348
AKT3I444VMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, not providedConflicting interpretations of pathogenicity
(Aug 2, 2022)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr1:243736327
GRCh38:
Chr1:243573025
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Aug 23, 2022)		criteria provided, single submitter
65.
GRCh37:
Chr1:243668632
GRCh38:
Chr1:243505330
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, not providedBenign/Likely benign
(Nov 27, 2021)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr1:243736255
GRCh38:
Chr1:243572953
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Benign
(Oct 2, 2022)		criteria provided, single submitter
67.
GRCh37:
Chr1:243828064
GRCh38:
Chr1:243664762
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Oct 20, 2021)		criteria provided, single submitter
68.
GRCh37:
Chr1:243716090
GRCh38:
Chr1:243552788
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Aug 17, 2022)		criteria provided, single submitter
69.
GRCh37:
Chr1:243716150
GRCh38:
Chr1:243552848
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, not providedBenign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr1:243736321
GRCh38:
Chr1:243573019
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Aug 24, 2017)		criteria provided, single submitter
71.
GRCh37:
Chr1:243668575
GRCh38:
Chr1:243505273
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, not provided, not specified
Benign/Likely benign
(Jan 1, 2023)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr1:243727064
GRCh38:
Chr1:243563762
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, not providedLikely benign
(Dec 3, 2021)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr1:243727088
GRCh38:
Chr1:243563786
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, not providedConflicting interpretations of pathogenicity
(Dec 3, 2021)		criteria provided, conflicting interpretations
74.
GRCh37:
Chr1:243809352
GRCh38:
Chr1:243646050
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, not providedBenign
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr1:243727160
GRCh38:
Chr1:243563858
AKT3not provided, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Uncertain significance
(Feb 2, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr1:243727130
GRCh38:
Chr1:243563828
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Aug 23, 2022)		criteria provided, single submitter
77.
GRCh37:
Chr1:243828134
GRCh38:
Chr1:243664832
AKT3R75KMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Uncertain significance
(Sep 10, 2021)		criteria provided, single submitter
78.
GRCh37:
Chr1:243675704
GRCh38:
Chr1:243512402
AKT3V426LMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Uncertain significance
(Aug 27, 2021)		criteria provided, single submitter
79.
GRCh37:
Chr1:243828085
GRCh38:
Chr1:243664783
AKT3not specified, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely benign
(Sep 12, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr1:243727168
GRCh38:
Chr1:243563866
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, not specifiedLikely benign
(Aug 28, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr1:243716014
GRCh38:
Chr1:243552712
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, not specifiedLikely benign
(Sep 16, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr1:243800926
GRCh38:
Chr1:243637624
AKT3V183DMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Likely pathogeniccriteria provided, single submitter
83.
GRCh37:
Chr1:242263612-244559673
GRCh38:
Chr1:242100310-244396371
AKT3, AKT3-IT1, CEP170, LINC01347, LINC02774, LOC110120698, LOC111828504, LOC112577566, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC129388799, LOC129932891, LOC129932892, LOC129932893, LOC129932894, LOC129932895, LOC129932896, LOC129932897, LOC129932898, LOC129932899, LOC129932900, LOC440742, MIR4677, PLD5, SDCCAG8, SPMIP3, ZBTB18
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2Pathogenic
(Nov 12, 2015)		criteria provided, single submitter
84.
GRCh37:
Chr1:243859016
GRCh38:
Chr1:243695714
AKT3E17KOvergrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genesPathogenic
(Feb 12, 2022)		reviewed by expert panel
FDA Recognized Database
85.
GRCh37:
Chr1:243776983
GRCh38:
Chr1:243613681
AKT3N229SMegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-capillary malformation-polymicrogyria syndromePathogenic
(Nov 1, 2015)		no assertion criteria provided
86.
GRCh37:
Chr1:243668598
GRCh38:
Chr1:243505296
AKT3R465WAKT3-related condition, Capillary hemangioma, Polymicrogyria,
Global developmental delay, Macrocephaly, Inborn genetic diseases,
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, not provided, See cases
Pathogenic/Likely pathogenic
(May 16, 2023)		criteria provided, multiple submitters, no conflicts
Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination