| - GRCh37:
- Chr6:118972430
- GRCh38:
- Chr6:118651267
| CEP85L, LOC129997071 | M1I | Lissencephaly | Pathogenic
(Nov 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:49579343
- GRCh38:
- Chr12:49185560
| TUBA1A | L234P, L269P | Lissencephaly | Likely pathogenic
(Feb 28, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr6:118953659
- GRCh38:
- Chr6:118632496
| CEP85L | S63R, S66R | Lissencephaly | Likely pathogenic
(Mar 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118953614
- GRCh38:
- Chr6:118632451
| CEP85L | | Lissencephaly, Thick corpus callosum | Pathogenic
(May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:29237171-29237172
- GRCh38:
- Chr14:28767965-28767966
| FOXG1 | I229K | Lissencephaly | Likely pathogenic
(May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:61091-787353
| | | Generalized hypotonia, Lissencephaly, Microcephaly,
Corpus callosum, agenesis of | Pathogenic
(Oct 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103183235-103183236
- GRCh38:
- Chr7:103542788-103542789
| RELN | F2205fs | Lissencephaly | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr7:103322603
- GRCh38:
- Chr7:103682156
| RELN | Q417* | Lissencephaly | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr17:40765942
- GRCh38:
- Chr17:42613924
| TUBG1 | I257F | Lissencephaly | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr16:90002022
- GRCh38:
- Chr16:89935614
| TUBB3 | M316T, M388T | Lissencephaly | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr6:3226888
- GRCh38:
- Chr6:3226654
| TUBB2B | S25G | Lissencephaly | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr6:3226025
- GRCh38:
- Chr6:3225791
| TUBB2B | N100Y | Lissencephaly | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr6:3225576
- GRCh38:
- Chr6:3225342
| TUBB2B | D249E | Lissencephaly | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr7:103185769
- GRCh38:
- Chr7:103545322
| RELN | Q2109* | Lissencephaly | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr7:103243879
- GRCh38:
- Chr7:103603432
| RELN | I1069fs | Lissencephaly | Likely pathogenic | no assertion criteria provided |
| | PAFAH1B1 | | Lissencephaly | Likely pathogenic | no assertion criteria provided |
| | PAFAH1B1 | | Lissencephaly | Likely pathogenic | no assertion criteria provided |
| | PAFAH1B1 | | Lissencephaly | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr17:2583498-2583499
- GRCh38:
- Chr17:2680204-2680205
| PAFAH1B1 | G349fs | Lissencephaly | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr17:2577425
- GRCh38:
- Chr17:2674131
| PAFAH1B1 | L248P | Lissencephaly | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:2577403
- GRCh38:
- Chr17:2674109
| PAFAH1B1 | R241fs | Lissencephaly | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr17:2577358-2577359
- GRCh38:
- Chr17:2674064-2674065
| PAFAH1B1 | V227fs | Lissencephaly | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr17:2576035
- GRCh38:
- Chr17:2672741
| PAFAH1B1 | W219G | Lissencephaly | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:2569344-2569345
- GRCh38:
- Chr17:2666050-2666051
| PAFAH1B1 | E52fs | Lissencephaly | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr17:2541601
- GRCh38:
- Chr17:2638307
| PAFAH1B1 | Q7* | Lissencephaly | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr14:102505442
- GRCh38:
- Chr14:102039105
| DYNC1H1 | E3771K | Lissencephaly | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr14:102502959
- GRCh38:
- Chr14:102036622
| DYNC1H1 | G3630S | Charcot-Marie-Tooth disease axonal type 2O | Uncertain significance
(Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:102499721
- GRCh38:
- Chr14:102033384
| DYNC1H1 | R3438Q | Lissencephaly | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr14:102498755
- GRCh38:
- Chr14:102032418
| DYNC1H1 | R3344W | not provided | Pathogenic
(May 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr14:102498679
- GRCh38:
- Chr14:102032342
| DYNC1H1 | K3318N | Lissencephaly | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr14:102483301-102483303
- GRCh38:
- Chr14:102016964-102016966
| DYNC1H1 | L2605del | Lissencephaly | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr14:102461014
- GRCh38:
- Chr14:101994677
| DYNC1H1 | W1054S | Lissencephaly | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr14:102452883
- GRCh38:
- Chr14:101986546
| DYNC1H1 | L774P | Lissencephaly | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr14:102452565
- GRCh38:
- Chr14:101986228
| DYNC1H1 | V668D | Lissencephaly | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr14:102446841
- GRCh38:
- Chr14:101980504
| DYNC1H1 | K305N | Lissencephaly | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:110653338
- GRCh38:
- ChrX:111410110
| DCX | L178V, L97V | Lissencephaly | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr17:79478481
- GRCh38:
- Chr17:81511455
| ACTG1 | D179Y | Lissencephaly | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr14:102507012
- GRCh38:
- Chr14:102040675
| DYNC1H1 | | Charcot-Marie-Tooth disease axonal type 2O | Uncertain significance
(Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:197061157
- GRCh38:
- Chr1:197092027
| ASPM | L1524fs, L3109fs | Microcephaly 5, primary, autosomal recessive, not provided, Microcephaly,
Lissencephaly | Pathogenic/Likely pathogenic
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:39916758
- GRCh38:
- Chr1:39451086
| MACF1 | G4706R, G6765R | Lissencephaly, Lissencephaly 9 with complex brainstem malformation | Pathogenic/Likely pathogenic
(Feb 15, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:39929312
- GRCh38:
- Chr1:39463640
| MACF1 | C5177F, C7236F | Lissencephaly | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:102469227
- GRCh38:
- Chr14:102002890
| DYNC1H1 | R1603T | Intellectual disability, autosomal dominant 13 | Uncertain significance
(Sep 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2339561-3447162
| OR1E2, CLUH, TRPV3, OR1A1, LOC100288728, SPATA22, OR1D2, RAP1GAP2, OR3A2, METTL16, OR1D5, ASPA, PAFAH1B1, OR1E1, OR3A3, OR1A2, OR3A1, OR1G1 | | Lissencephaly | Pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2339561-2826073
| RAP1GAP2, CLUH, METTL16, PAFAH1B1 | | Strabismus, Microcephaly, Lissencephaly,
Global developmental delay, Hypertonia, Nystagmus,
Absent speech | Pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:1361431-2573023
| SERPINF2, SGSM2, SMG6, SMYD4, SRR, TLCD2, WDR81, TSR1, SLC43A2, DPH1, HIC1, INPP5K, METTL16, MIR132, MIR212, MIR22, MNT, MYO1C, OVCA2, PAFAH1B1, PITPNA, PRPF8, RILP, RPA1, RTN4RL1, SCARF1, SERPINF1 | | Lissencephaly, Epileptic spasm, Abnormal facial shape
| Pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:118953666
- GRCh38:
- Chr6:118632503
| CEP85L | S64F, S61F | Lissencephaly, Lissencephaly 10 | Uncertain significance
(Jan 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:30691699
- GRCh38:
- Chr6:30723922
| TUBB | P287L, P307L, P215L, P243L | Complex cortical dysplasia with other brain malformations 6, Multiple benign circumferential skin creases on limbs 1, not provided
| Conflicting interpretations of pathogenicity
(Oct 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:40765949
- GRCh38:
- Chr17:42613931
| TUBG1 | S259L | not specified, not provided | Conflicting interpretations of pathogenicity
(May 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:3225452
- GRCh38:
- Chr6:3225218
| TUBB2B | Q291K | Complex cortical dysplasia with other brain malformations 7 | Likely pathogenic
(Nov 19, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr12:49578846-49578848
- GRCh38:
- Chr12:49185063-49185065
| TUBA1A | E434del, E399del | Inborn genetic diseases, not specified | Uncertain significance
(Apr 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:102469287
- GRCh38:
- Chr14:102002950
| DYNC1H1 | R1623Q | Intellectual disability, autosomal dominant 13, Charcot-Marie-Tooth disease axonal type 2O, not provided
| Pathogenic/Likely pathogenic
(Jun 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:102500319
- GRCh38:
- Chr14:102033982
| DYNC1H1 | R3474W | Spinal muscular atrophy with lower extremity predominance, not provided | Pathogenic
(Mar 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:102505162
- GRCh38:
- Chr14:102038825
| DYNC1H1 | R3728P | Intellectual disability, autosomal dominant 13 | Likely pathogenic
(Nov 18, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr14:102452268
- GRCh38:
- Chr14:101985931
| DYNC1H1 | R569P | Lissencephaly, Intellectual disability, autosomal dominant 13 | Pathogenic/Likely pathogenic
(May 19, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr14:102446852
- GRCh38:
- Chr14:101980515
| DYNC1H1 | R309H | not provided, Charcot-Marie-Tooth disease axonal type 2O | Pathogenic/Likely pathogenic
(Jul 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:49578923
- GRCh38:
- Chr12:49185140
| TUBA1A | V409A, V374A | Tubulinopathy, not provided, Lissencephaly due to TUBA1A mutation
| Pathogenic/Likely pathogenic
(Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:103143456-103143459
- GRCh38:
- Chr7:103503009-103503012
| RELN, SLC26A5-AS1 | | not provided | Uncertain significance
(Feb 13, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103205735
- GRCh38:
- Chr7:103565288
| RELN | L1734V | Inborn genetic diseases, Norman-Roberts syndrome, Familial temporal lobe epilepsy 7,
not specified, not provided | Conflicting interpretations of pathogenicity
(Oct 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:130951772
- GRCh38:
- Chr2:130194199
| TUBA3E, MZT2B | R215C | Primary microcephaly, Seizure, Lissencephaly,
Global developmental delay | Likely pathogenic
(Dec 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr12:49579154
- GRCh38:
- Chr12:49185371
| TUBA1A | I332T, I297T | Tubulinopathy, Lissencephaly due to TUBA1A mutation | Likely pathogenic
(Jul 1, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:49578945
- GRCh38:
- Chr12:49185162
| TUBA1A | R402C, R367C | Tubulinopathy, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2D,
Lissencephaly due to TUBA1A mutation | Pathogenic/Likely pathogenic
(Apr 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:2583566
- GRCh38:
- Chr17:2680272
| PAFAH1B1 | R371* | Lissencephaly due to LIS1 mutation, Neurodevelopmental delay | Pathogenic
(Feb 8, 2013) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:110574171
- GRCh38:
- ChrX:111330943
| DCX | R303*, R384* | not provided, Lissencephaly type 1 due to doublecortin gene mutation, Ectopic tissue
| Pathogenic
(Jun 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:110653394
- GRCh38:
- ChrX:111410166
| DCX | R78L, R159L | not provided, Lissencephaly type 1 due to doublecortin gene mutation, Ectopic tissue
| Pathogenic
(Oct 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:3225062
- GRCh38:
- Chr6:3224828
| TUBB2B | E421K | Lissencephaly, Complex cortical dysplasia with other brain malformations 7 | Pathogenic/Likely pathogenic
(Dec 15, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr14:102498756
- GRCh38:
- Chr14:102032419
| DYNC1H1 | R3344Q | Charcot-Marie-Tooth disease axonal type 2O, Intellectual disability | Pathogenic
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:37784950
- GRCh38:
- Chr9:37784953
| EXOSC3 | G31A | Microcephaly, Fetal akinesia deformation sequence 1, Severe intrauterine growth retardation,
Lissencephaly, Paucity of anterior horn motor neurons, Hypoplasia of the pons,
Abnormal cerebellum morphology, not provided, Pontocerebellar hypoplasia type 1B
| Pathogenic/Likely pathogenic
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:79478250
- GRCh38:
- Chr17:81511224
| ACTG1 | R256W | Baraitser-winter syndrome 2 | Pathogenic
(Dec 2, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr17:79478256
- GRCh38:
- Chr17:81511230
| ACTG1 | R254W | Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, not provided,
Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20 | Pathogenic/Likely pathogenic
(Nov 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:2575939
- GRCh38:
- Chr17:2672645
| PAFAH1B1 | | Inborn genetic diseases, not provided, Lissencephaly due to LIS1 mutation
| Pathogenic/Likely pathogenic
(Jun 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:2541604
- GRCh38:
- Chr17:2638310
| PAFAH1B1 | R8* | not provided, Lissencephaly due to LIS1 mutation, Intellectual disability
| Conflicting interpretations of pathogenicity
(Dec 2, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:49578884
- GRCh38:
- Chr12:49185101
| TUBA1A | R422H, R387H | Tubulinopathy, not provided, Lissencephaly due to TUBA1A mutation
| Pathogenic
(Jun 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:49578944
- GRCh38:
- Chr12:49185161
| TUBA1A | R402H, R367H | Tubulinopathy-associated dysgyria, Tubulinopathy, not provided,
Lissencephaly due to TUBA1A mutation | Pathogenic
(Dec 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:49579359
- GRCh38:
- Chr12:49185576
| TUBA1A | R264C, R229C | Tubulinopathy, Inborn genetic diseases, not provided,
Lissencephaly due to TUBA1A mutation | Pathogenic
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:90983442-90983446
- GRCh38:
- Chr8:89971214-89971218
| NBN | K137fs, K219fs | NBN-related condition, Hereditary cancer-predisposing syndrome, not provided,
BAP1-related tumor predisposition syndrome, Breast-ovarian cancer, familial, susceptibility to, 1, Microcephaly, normal intelligence and immunodeficiency,
Microcephaly, Lissencephaly | Conflicting interpretations of pathogenicity
(Aug 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:25463509-25463512
- GRCh38:
- Chr13:24889371-24889374
| CENPJ | S1081fs | not provided, Microcephaly, Lissencephaly
| Pathogenic/Likely pathogenic
(May 12, 2021) | criteria provided, multiple submitters, no conflicts |