Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Intellectual Disability (D008607)
Parent Node: Lissencephaly (D054082)
Parent Node: Microcephaly (D008831)
..Starting node ..Lissencephaly 3 (C566908)
Child Nodes:
Sister Nodes:
..Absent Eyebrows and Eyelashes with Mental Retardation (C563111)
..Achalasia microcephaly (C536010)
..Agammaglobulinemia, microcephaly, and severe dermatitis (C538055)
..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..Amish lethal microcephaly (C538247)
..Anonychia, Total, with Microcephaly (C564606)
..Aphalangia syndactyly microcephaly (C537787)
..Ataxia-Microcephaly-Cataract Syndrome (C563086)
..Autosomal Recessive Primary Microcephaly (C579935)
..Baetz-Greenwalt syndrome (C537795)
..BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
..Baraitser Brett Piesowicz syndrome (C537905)
..Battaglia Neri syndrome (C537662)
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Bixler Christian Gorlin syndrome (C537632)
..Boudhina Yedes Khiari syndrome (C537939)
..Brachydactyly, Type A2, With Microcephaly (C565894)
..Branchial arch syndrome X-linked (C537102)
..Bullous Dystrophy, Hereditary Macular Type (C563065)
..CAMFAK syndrome (C537965)
..Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (C563414)
..Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
..Chromosomal Instability with Tissue-Specific Radiosensitivity (C565848)
..Chromosome 15q26-Qter Deletion Syndrome (C567232)
..CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..CHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..CK SYNDROME (OMIM:300831)
..Cohen syndrome (C536438)
..Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities (C565667)
..Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..Dubowitz syndrome (C535718)
..Ellis Yale Winter syndrome (C536205)
..Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
..Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly (C565032)
..Filippi syndrome (C538152)
..FORSYTHE-WAKELING SYNDROME (OMIM:613606)
..Galloway Mowat syndrome (C537548)
..GOMBO syndrome (C537284)
..Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate (C537405)
..Growth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
..Hadziselimovic Syndrome (C567850)
..Halal syndrome (C535622)
..Hersh Podruch Weisskopk syndrome (C538114)
..Hoyeraal Hreidarsson syndrome (C536068)
..Hypogonadism with Low-Grade Mental Deficiency and Microcephaly (C565482)
..Hypospadias-Mental Retardation Syndrome (C563067)
..Jejunal Atresia with Microcephaly and Ocular Anomalies (C565460)
..Jorgenson Lenz syndrome (C536292)
..Kaufman oculocerebrofacial syndrome (C537013)
..Lambotte syndrome (C537549)
..Lissencephaly 3 (C566908)
..Lowry Wood syndrome (C537038)
..Lymphedema, microcephaly and chorioretinopathy syndrome (C537711)
..MacDermot Winter syndrome (C537714)
..Marfanoid Habitus with Microcephaly and Glomerulonephritis (C565411)
..MEHMO syndrome (C537451)
..Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
..Mental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342)
..Mental Retardation, X-Linked, Syndromic 9 (C567474)
..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..Microcephalic osteodysplastic primordial dwarfism, type 1 (C537577)
..Microcephalic osteodysplastic primordial dwarfism, type 3 (C537320)
..Microcephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
..Microcephalic primordial dwarfism Toriello type (C537321)
..Microcephaly albinism digital anomalies syndrome (C537322)
..Microcephaly autosomal dominant (C537323)
..Microcephaly cervical spine fusion anomalies (C537325)
..Microcephaly deafness syndrome (C537326)
..Microcephaly microphthalmos blindness (C537541)
..Microcephaly nonsyndromal (C537542)
..Microcephaly pontocerebellar hypoplasia dyskinesia (C537543)
..Microcephaly seizures genital hypoplasia (C537540)
..Microcephaly seizures mental retardation heart disorders (C537544)
..Microcephaly sparse hair mental retardation seizures (C537545)
..Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia (C565381)
..Microcephaly with Chorioretinopathy, Autosomal Dominant (C563583)
..Microcephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..Microcephaly with Mental Retardation and Digital Anomalies (C567101)
..Microcephaly with Simplified Gyral Pattern (C566332)
..Microcephaly with spastic quadriplegia (C537546)
..Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs (C563341)
..Microcephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
..Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
..Microcephaly, Macrotia, And Mental Retardation (C566525)
..Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)
..MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..Microcephaly, Primary Autosomal Recessive, 1 (C565384)
..Microcephaly, Primary Autosomal Recessive, 2 (C565794)
..Microcephaly, Primary Autosomal Recessive, 3 (C565746)
..Microcephaly, Primary Autosomal Recessive, 4 (C565792)
..Microcephaly, Primary Autosomal Recessive, 5 (C563871)
..Microcephaly, Primary Autosomal Recessive, 5, with Simplified Gyral Pattern (C567221)
..Microcephaly, Primary Autosomal Recessive, 6 (C564247)
..Microcephaly, Primary Autosomal Recessive, 7 (C567198)
..Microcephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects (C566377)
..Microcephaly-Micromelia Syndrome (C565382)
..Microhydranencephaly (C537555)
..Microphthalmia and mental deficiency (C537462)
..Milner Khallouf Gibson syndrome (C537473)
..Mirhosseini-Holmes-Walton syndrome (C538367)
..Mowat-Wilson syndrome (C536990)
..Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
..Neu Laxova syndrome (C536405)
..Nijmegen Breakage Syndrome-Like Disorder (C567767)
..Oculodigitoesophagoduodenal syndrome (C537734)
..Oculopalatocerebral Syndrome (C564935)
..Osteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
..Paine syndrome (C538101)
..Partington Anderson syndrome (C536299)
..Phosphoglycerate Dehydrogenase Deficiency (C566618)
..Phosphoserine Aminotransferase Deficiency (C567032)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
..Porencephaly (D065708) 1
..Raine syndrome (C535282)
..RAJAB SYNDROME (OMIM:613658)
..Sammartino De Crecchio Syndrome (C537229)
..Say Barber Miller syndrome (C536618)
..Say syndrome (C536621)
..Schimke X-linked mental retardation syndrome (C536630)
..Seckel syndrome 1 (C537533)
..Seckel syndrome 2 (C537534)
..Seckel Syndrome 3 (C563881)
..SECKEL SYNDROME 4 (OMIM:613676)
..Secretory Diarrhea, Myopathy, and Deafness (C564382)
..Seemanova Lesny syndrome (C537536)
..Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation (C566970)
..Silengo Lerone Pelizza syndrome (C537336)
..Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..Spinal Muscular Atrophy with Microcephaly and Mental Subnormality (C564806)
..Spondyloepimetaphyseal dysplasia, Genevieve type (C535785)
..Teebi Kaurah syndrome (C536948)
..Trichodental syndrome (C536551)
..Tsukahara Syndrome (C566376)
..Warburg Sjo Fledelius syndrome (C536681)
..Warburton Anyane Yeboa syndrome (C536682)
..Winship Viljoen Leary syndrome (C536711)
..Zerres Rietschel Majewski syndrome (C536724)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6488

Name:

Lissencephaly 3

Definition:

Alternative IDs:

OMIM:611603

ParentIDs:

MESH:D008607|MESH:D008831|MESH:D054082

TreeNumbers:

C05.660.207.620/C566908 |C10.500.507.400.500/C566908 |C10.500.507.450.499/C566908 |C10.597.606.643/C566908 |C16.131.621.207.620/C566908 |C16.131.666.507.400.500/C566908 |C16.131.666.507.450.499/C566908 |C23.888.592.604.646/C566908 |F03.550.600/C566908

Synonyms:

LIS3

Slim Mappings:

Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C566908
MeSH: C566908
OMIM: 611603;

Genes: TUBA1A;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001274	Agenesis of corpus callosum
3	HP:0001251	Ataxia
4	HP:0001320	Cerebellar vermis hypoplasia
5	HP:0001290	Generalized hypotonia
6	HP:0002282	Gray matter heterotopia
7	HP:0002365	Hypoplasia of the brainstem
8	HP:0002079	Hypoplasia of the corpus callosum
9	HP:0010864	Intellectual disability, severe
10	HP:0000252	Microcephaly
11	HP:0001270	Motor delay
12	HP:0001302	Pachygyria
13	HP:0002126	Polymicrogyria
14	HP:0001250	Seizure
15	HP:0002510	Spastic tetraplegia
16	HP:0002119	Ventriculomegaly

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_006009.3(TUBA1A):c.1274T>A (p.Met425Lys)	7846	TUBA1A	Likely pathogenic	587784484	RCV000147800;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49578875	49578875	NM_006009.3:c.1274T>A	NP_006000.2:p.Met425Lys	NC_000012.11:g.49578875A>T	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.1265G>A (p.Arg422His)	7846	TUBA1A	Pathogenic	137853050	RCV000007493;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49578884	49578884	NM_006009.3:c.1265G>A	NP_006000.2:p.Arg422His	NC_000012.11:g.49578884C>T	OMIM Allelic Variant:602529.0008	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.1264C>T (p.Arg422Cys)	7846	TUBA1A	Pathogenic	137853049	RCV000007492;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49578885	49578885	NM_006009.3:c.1264C>T	NP_006000.2:p.Arg422Cys	NC_000012.11:g.49578885G>A	OMIM Allelic Variant:602529.0007	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.1256C>T (p.Ser419Leu)	7846	TUBA1A	Pathogenic	137853047	RCV000007490;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49578893	49578893	NM_006009.3:c.1256C>T	NP_006000.2:p.Ser419Leu	NC_000012.11:g.49578893G>A	OMIM Allelic Variant:602529.0005	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.1226T>C (p.Val409Ala)	7846	TUBA1A	Pathogenic	797045005	RCV000190503;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49578923	49578923	NM_006009.3:c.1226T>C	NP_006000.2:p.Val409Ala	NC_000012.11:g.49578923A>G	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.1224C>A (p.Tyr408Ter)	7846	TUBA1A	Pathogenic	753719501	RCV000191138;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49578925	49578925	NM_006009.3:c.1224C>A	NP_006000.2:p.Tyr408Ter	NC_000012.11:g.49578925G>T	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.1205G>A (p.Arg402His)	7846	TUBA1A	Pathogenic	137853044	RCV000007487;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49578944	49578944	NM_006009.3:c.1205G>A	NP_006000.2:p.Arg402His	NC_000012.11:g.49578944C>A,NC_000012.11:g.49578944C>T	OMIM Allelic Variant:602529.0002	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.1205G>T (p.Arg402Leu)	7846	TUBA1A	Pathogenic	137853044	RCV000147799;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49578944	49578944	NM_006009.3:c.1205G>T	NP_006000.2:p.Arg402Leu	NC_000012.11:g.49578944C>A,NC_000012.11:g.49578944C>T	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.1204C>T (p.Arg402Cys)	7846	TUBA1A	Pathogenic	587784483	RCV000147798;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49578945	49578945	NM_006009.3:c.1204C>T	NP_006000.2:p.Arg402Cys	NC_000012.11:g.49578945G>A,NC_000012.11:g.49578945G>T	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.1204C>A (p.Arg402Ser)	7846	TUBA1A	Likely pathogenic	587784483	RCV000147797;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49578945	49578945	NM_006009.3:c.1204C>A	NP_006000.2:p.Arg402Ser	NC_000012.11:g.49578945G>A,NC_000012.11:g.49578945G>T	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.1190T>C (p.Leu397Pro)	7846	TUBA1A	Pathogenic	137853048	RCV000007491;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49578959	49578959	NM_006009.3:c.1190T>C	NP_006000.2:p.Leu397Pro	NC_000012.11:g.49578959A>G	OMIM Allelic Variant:602529.0006	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.1148C>T (p.Ala383Val)	7846	TUBA1A	Likely pathogenic;Pathogenic	587784482	RCV000147795; RCV000201372;	N	Human Phenotype Ontology:HP:0002269,Human Phenotype Ontology:HP:0007317,MedGen:CN002060; MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49579001	49579001	NM_006009.3:c.1148C>T	NP_006000.2:p.Ala383Val	NC_000012.11:g.49579001G>A	-	CN002060 Abnormality of neuronal migration; C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.1129A>G (p.Met377Val)	7846	TUBA1A	Likely pathogenic	587784481	RCV000147794;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49579020	49579020	NM_006009.3:c.1129A>G	NP_006000.2:p.Met377Val	NC_000012.11:g.49579020T>C	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.1105G>A (p.Ala369Thr)	7846	TUBA1A	Likely pathogenic	797046071	RCV000194532;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49579044	49579044	NM_006009.3:c.1105G>A	NP_006000.2:p.Ala369Thr	NC_000012.11:g.49579044C>T	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.995T>C (p.Ile332Thr)	7846	TUBA1A	Likely pathogenic	587784497	RCV000147823;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49579154	49579154	NM_006009.3:c.995T>C	NP_006000.2:p.Ile332Thr	NC_000012.11:g.49579154A>G	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.991G>A (p.Ala331Thr)	7846	TUBA1A	Uncertain significance	587784496	RCV000147822;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49579158	49579158	NM_006009.3:c.991G>A	NP_006000.2:p.Ala331Thr	NC_000012.11:g.49579158C>T	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.986A>G (p.Asn329Ser)	7846	TUBA1A	Likely pathogenic	587784495	RCV000147821;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49579163	49579163	NM_006009.3:c.986A>G	NP_006000.2:p.Asn329Ser	NC_000012.11:g.49579163T>C	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.970G>C (p.Val324Leu)	7846	TUBA1A	Likely pathogenic	797046073	RCV000194600;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49579179	49579179	NM_006009.3:c.970G>C	NP_006000.2:p.Val324Leu	NC_000012.11:g.49579179C>G	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.966C>T (p.Asp322=)	7846	TUBA1A	Uncertain significance	142641191	RCV000147819;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49579183	49579183	NM_006009.3:c.966C>T	NP_006000.2:p.Asp322=	NC_000012.11:g.49579183G>A	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.808G>T (p.Ala270Ser)	7846	TUBA1A	Likely pathogenic	587784494	RCV000147818;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49579341	49579341	NM_006009.3:c.808G>T	NP_006000.2:p.Ala270Ser	NC_000012.11:g.49579341C>A	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.790C>T (p.Arg264Cys)	7846	TUBA1A	Pathogenic	137853043	RCV000007486;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49579359	49579359	NM_006009.3:c.790C>T	NP_006000.2:p.Arg264Cys	NC_000012.11:g.49579359G>A	OMIM Allelic Variant:602529.0001	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.787C>A (p.Pro263Thr)	7846	TUBA1A	Pathogenic	137853046	RCV000007489;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49579362	49579362	NM_006009.3:c.787C>A	NP_006000.2:p.Pro263Thr	NC_000012.11:g.49579362G>T	OMIM Allelic Variant:602529.0004	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.758C>G (p.Thr253Arg)	7846	TUBA1A	Uncertain significance	587784493	RCV000147817;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49579391	49579391	NM_006009.3:c.758C>G	NP_006000.2:p.Thr253Arg	NC_000012.11:g.49579391G>C	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.698A>G (p.Gln233Arg)	7846	TUBA1A	Likely pathogenic	587784492	RCV000147816;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49579451	49579451	NM_006009.3:c.698A>G	NP_006000.2:p.Gln233Arg	NC_000012.11:g.49579451T>C	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.562_564dupATC (p.Ile188_Leu189insIle)	7846	TUBA1A	Uncertain significance	587784490	RCV000147814;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49579585	49579587	NM_006009.3:c.562_564dupATC	NP_006000.2:p.Ile188_Leu189insIle	NC_000012.11:g.49579585_49579587dupGAT	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.562A>C (p.Ile188Leu)	7846	TUBA1A	Pathogenic	137853045	RCV000007488;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49579587	49579587	NM_006009.3:c.562A>C	NP_006000.2:p.Ile188Leu	NC_000012.11:g.49579587T>G	OMIM Allelic Variant:602529.0003	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.521C>T (p.Ala174Val)	7846	TUBA1A	Uncertain significance	587784489	RCV000147812;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49579628	49579628	NM_006009.3:c.521C>T	NP_006000.2:p.Ala174Val	NC_000012.11:g.49579628G>A	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.481T>G (p.Tyr161Asp)	7846	TUBA1A	Pathogenic	587784488	RCV000147810;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49579668	49579668	NM_006009.3:c.481T>G	NP_006000.2:p.Tyr161Asp	NC_000012.11:g.49579668A>C	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.352G>A (p.Val118Met)	7846	TUBA1A	Likely pathogenic	863224938	RCV000199824;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49580116	49580116	NM_006009.3:c.352G>A	NP_006000.2:p.Val118Met	NC_000012.11:g.49580116C>T	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.269A>G (p.Glu90Gly)	7846	TUBA1A	Likely pathogenic	797046072	RCV000194237;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49580199	49580199	NM_006009.3:c.269A>G	NP_006000.2:p.Glu90Gly	NC_000012.11:g.49580199T>C	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.189C>T (p.Pro63=)	7846	TUBA1A	Uncertain significance	147273934	RCV000147803;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49580431	49580431	NM_006009.3:c.189C>T	NP_006000.2:p.Pro63=	NC_000012.11:g.49580431G>A	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.162T>A (p.Ser54Arg)	7846	TUBA1A	Likely pathogenic	587784486	RCV000147802;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49580458	49580458	NM_006009.3:c.162T>A	NP_006000.2:p.Ser54Arg	NC_000012.11:g.49580458A>T	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.152C>T (p.Thr51Ile)	7846	TUBA1A	Likely pathogenic	587784485	RCV000147801;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49580468	49580468	NM_006009.3:c.152C>T	NP_006000.2:p.Thr51Ile	NC_000012.11:g.49580468G>A	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.96C>T (p.Pro32=)	7846	TUBA1A	Uncertain significance	139102191	RCV000147820;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49580524	49580524	NM_006009.3:c.96C>T	NP_006000.2:p.Pro32=	NC_000012.11:g.49580524G>A	-	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.13A>C (p.Ile5Leu)	7846	TUBA1A	Pathogenic	387906840	RCV000023197;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49580607	49580607	NM_006009.3:c.13A>C	NP_006000.2:p.Ile5Leu	NC_000012.11:g.49580607T>G	OMIM Allelic Variant:602529.0009	C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.5G>A (p.Arg2His)	7846	TUBA1A	Likely pathogenic;Pathogenic	587784491	RCV000147815; RCV000190671;	N	MedGen:C0950123; MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49580615	49580615	NM_006009.3:c.5G>A	NP_006000.2:p.Arg2His	NC_000012.11:g.49580615C>T	-	C0950123 Inborn genetic diseases; C1969029 611603 Lissencephaly 3
NM_006009.3(TUBA1A):c.4-7C>T	7846	TUBA1A	Uncertain significance	560491477	RCV000147808;	N	MedGen:C1969029,OMIM:611603,ORPHA:171680	12	49580623	49580623	NM_006009.3:c.4-7C>T		NC_000012.11:g.49580623G>A	-	C1969029 611603 Lissencephaly 3