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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

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

Disease Browser
Parent Node: Microcephaly (D008831)
..Starting node ..Microcephaly, Primary Autosomal Recessive, 5 (C563871)
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:

7190

Name:

Microcephaly, Primary Autosomal Recessive, 5

Definition:

Alternative IDs:

OMIM:608716

ParentIDs:

MESH:D008831

TreeNumbers:

C05.660.207.620/C563871 |C10.500.507.400.500/C563871 |C16.131.621.207.620/C563871 |C16.131.666.507.400.500/C563871

Synonyms:

MCPH5 |MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE

Slim Mappings:

Congenital abnormality|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C563871
MeSH: C563871
OMIM: 608716;

Genes: ASPM;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0001274	Agenesis of corpus callosum
4	HP:0007018	Attention deficit hyperactivity disorder
5	HP:0001321	Cerebellar hypoplasia	HP:0040283
6	HP:0002539	Cortical dysplasia	HP:0040283
7	HP:0000750	Delayed speech and language development
8	HP:0000365	Hearing impairment	HP:0040283
9	HP:0002553	Highly arched eyebrow
10	HP:0002079	Hypoplasia of the corpus callosum
11	HP:0001249	Intellectual disability
12	HP:0000252	Microcephaly
13	HP:0001270	Motor delay
14	HP:0000341	Narrow forehead
15	HP:0000520	Proptosis
16	HP:0001250	Seizure	HP:0040283
17	HP:0004322	Short stature
18	HP:0009879	Simplified gyral pattern
19	HP:0000340	Sloping forehead
20	HP:0002472	Small cerebral cortex
21	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_018136.4(ASPM):c.10331+5G>A	259266	ASPM	Uncertain significance	368843607	RCV000145075;	N	MedGen:C1837501,OMIM:608716	1	197055928	197055928	NM_018136.4:c.10331+5G>A		NC_000001.10:g.197055928C>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.10168C>T (p.Arg3390Ter)	259266	ASPM	Pathogenic	587783211	RCV000162061; RCV000145074;	N	MedGen:C1837501,OMIM:608716	1	197056096	197056096	NM_018136.4:c.10168C>T	NP_060606.3:p.Arg3390Ter	NC_000001.10:g.197056096G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.10168C>T (p.Arg3390Ter)	259266	ASPM	Pathogenic	587783211	RCV000162061; RCV000145074;	N	MedGen:C1837501,OMIM:608716	1	197056096	197056096	NM_018136.4:c.10168C>T	NP_060606.3:p.Arg3390Ter	NC_000001.10:g.197056096G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.10109C>G (p.Thr3370Arg)	259266	ASPM	Uncertain significance	587783209	RCV000145072;	N	MedGen:C1837501,OMIM:608716	1	197057438	197057438	NM_018136.4:c.10109C>G	NP_060606.3:p.Thr3370Arg	NC_000001.10:g.197057438G>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.10100G>A (p.Ser3367Asn)	259266	ASPM	Uncertain significance	587783208	RCV000145071;	N	MedGen:C1837501,OMIM:608716	1	197057447	197057447	NM_018136.4:c.10100G>A	NP_060606.3:p.Ser3367Asn	NC_000001.10:g.197057447C>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.10060C>T (p.Arg3354Ter)	259266	ASPM	Pathogenic	748529285	RCV000194402;	N	MedGen:C1837501,OMIM:608716	1	197057487	197057487	NM_018136.4:c.10060C>T	NP_060606.3:p.Arg3354Ter	NC_000001.10:g.197057487G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.10059C>A (p.Tyr3353Ter)	259266	ASPM	Pathogenic	199422201	RCV000020739;	N	MedGen:C1837501,OMIM:608716	1	197057488	197057488	NM_018136.4:c.10059C>A	NP_060606.3:p.Tyr3353Ter	NC_000001.10:g.197057488G>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9996T>C (p.Thr3332=)	259266	ASPM	Benign;Uncertain significance	139927527	RCV000145246; RCV000176680;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197057551	197057551	NM_018136.4:c.9996T>C	NP_060606.3:p.Thr3332=	NC_000001.10:g.197057551A>G	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9985-72G>A	259266	ASPM	Uncertain significance	538986451	RCV000145245;	N	MedGen:C1837501,OMIM:608716	1	197057634	197057634	NM_018136.4:c.9985-72G>A		NC_000001.10:g.197057634C>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9984+1G>T	259266	ASPM	Pathogenic	199422200	RCV000020831;	N	MedGen:C1837501,OMIM:608716	1	197059059	197059059	NM_018136.4:c.9984+1G>T		NC_000001.10:g.197059059C>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9928A>G (p.Ile3310Val)	259266	ASPM	Uncertain significance	147256280	RCV000145244;	N	MedGen:C1837501,OMIM:608716	1	197059116	197059116	NM_018136.4:c.9928A>G	NP_060606.3:p.Ile3310Val	NC_000001.10:g.197059116T>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9923G>A (p.Arg3308His)	259266	ASPM	Uncertain significance	201362977	RCV000145243;	N	MedGen:C1837501,OMIM:608716	1	197059121	197059121	NM_018136.4:c.9923G>A	NP_060606.3:p.Arg3308His	NC_000001.10:g.197059121C>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9911G>A (p.Arg3304Gln)	259266	ASPM	Likely benign;Uncertain significance	149859034	RCV000145242; RCV000176582;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197059133	197059133	NM_018136.4:c.9911G>A	NP_060606.3:p.Arg3304Gln	NC_000001.10:g.197059133C>T	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9910C>T (p.Arg3304Ter)	259266	ASPM	Pathogenic	587783295	RCV000145241;	N	MedGen:C1837501,OMIM:608716	1	197059134	197059134	NM_018136.4:c.9910C>T	NP_060606.3:p.Arg3304Ter	NC_000001.10:g.197059134G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9841A>T (p.Arg3281Ter)	259266	ASPM	Pathogenic	199422199	RCV000020830;	N	MedGen:C1837501,OMIM:608716	1	197059203	197059203	NM_018136.4:c.9841A>T	NP_060606.3:p.Arg3281Ter	NC_000001.10:g.197059203T>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9789T>A (p.Tyr3263Ter)	259266	ASPM	Pathogenic	199422198	RCV000020829;	N	MedGen:C1837501,OMIM:608716	1	197059366	197059366	NM_018136.4:c.9789T>A	NP_060606.3:p.Tyr3263Ter	NC_000001.10:g.197059366A>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9773A>G (p.His3258Arg)	259266	ASPM	Benign	7528827	RCV000020828; RCV000145240;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197059382	197059382	NM_018136.4:c.9773A>G	NP_060606.3:p.His3258Arg	NC_000001.10:g.197059382T>C	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9754delA (p.Arg3252Glufs)	259266	ASPM	Pathogenic	199422197	RCV000020827;	N	MedGen:C1837501,OMIM:608716	1	197059401	197059401	NM_018136.4:c.9754delA	NP_060606.3:p.Arg3252Glufs	NC_000001.10:g.197059401delT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9745_9746delCT (p.Tyr3250Glnfs)	259266	ASPM	Pathogenic	199422196	RCV000020826;	N	MedGen:C1837501,OMIM:608716	1	197059409	197059410	NM_018136.4:c.9745_9746delCT	NP_060606.3:p.Tyr3250Glnfs	NC_000001.10:g.197059409_197059410delAG	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9730C>T (p.Arg3244Ter)	259266	ASPM	Pathogenic	199422195	RCV000020825;	N	MedGen:C1837501,OMIM:608716	1	197059425	197059425	NM_018136.4:c.9730C>T	NP_060606.3:p.Arg3244Ter	NC_000001.10:g.197059425G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9726G>A (p.Glu3242=)	259266	ASPM	Uncertain significance	587783294	RCV000145239;	N	MedGen:C1837501,OMIM:608716	1	197059429	197059429	NM_018136.4:c.9726G>A	NP_060606.3:p.Glu3242=	NC_000001.10:g.197059429C>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9697C>T (p.Arg3233Ter)	259266	ASPM	Pathogenic	199422194	RCV000020824; RCV000216613;	N	MedGen:C1837501,OMIM:608716; MedGen:CN221809	1	197059458	197059458	NM_018136.4:c.9697C>T	NP_060606.3:p.Arg3233Ter	NC_000001.10:g.197059458G>A	-	CN221809 not provided; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9686_9690delTTAAA (p.Ile3229Serfs)	259266	ASPM	Pathogenic	199422193	RCV000020823;	N	MedGen:C1837501,OMIM:608716	1	197059465	197059469	NM_018136.4:c.9686_9690delTTAAA	NP_060606.3:p.Ile3229Serfs	NC_000001.10:g.197059465_197059469delTTTAA	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9681delA (p.Ile3229Leufs)	259266	ASPM	Pathogenic	199422192	RCV000020822;	N	MedGen:C1837501,OMIM:608716	1	197059474	197059474	NM_018136.4:c.9681delA	NP_060606.3:p.Ile3229Leufs	NC_000001.10:g.197059474delT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9677dupG (p.Cys3226Trpfs)	259266	ASPM	Pathogenic	199422191	RCV000020821;	N	MedGen:C1837501,OMIM:608716	1	197059478	197059478	NM_018136.4:c.9677dupG	NP_060606.3:p.Cys3226Trpfs	NC_000001.10:g.197059478dupC	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9662G>A (p.Arg3221Lys)	259266	ASPM	Uncertain significance	587783293	RCV000145238;	N	MedGen:C1837501,OMIM:608716	1	197059493	197059493	NM_018136.4:c.9662G>A	NP_060606.3:p.Arg3221Lys	NC_000001.10:g.197059493C>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9595A>T (p.Lys3199Ter)	259266	ASPM	Pathogenic	199422190	RCV000020820;	N	MedGen:C1837501,OMIM:608716	1	197060021	197060021	NM_018136.4:c.9595A>T	NP_060606.3:p.Lys3199Ter	NC_000001.10:g.197060021T>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9577C>T (p.Arg3193Cys)	259266	ASPM	Uncertain significance	140679756	RCV000145237;	N	MedGen:C1837501,OMIM:608716	1	197060039	197060039	NM_018136.4:c.9577C>T	NP_060606.3:p.Arg3193Cys	NC_000001.10:g.197060039G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9557C>G (p.Ser3186Ter)	259266	ASPM	Pathogenic	199422189	RCV000020819;	N	MedGen:C1837501,OMIM:608716	1	197060059	197060059	NM_018136.4:c.9557C>G	NP_060606.3:p.Ser3186Ter	NC_000001.10:g.197060059G>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9539A>C (p.Gln3180Pro)	259266	ASPM	Pathogenic;Uncertain significance	193251130	RCV000020818; RCV000152802;	N	MedGen:C1837501,OMIM:608716; MedGen:CN221809	1	197060077	197060077	NM_018136.4:c.9539A>C	NP_060606.3:p.Gln3180Pro	NC_000001.10:g.197060077T>G	HGMD:CM066733	CN221809 not provided; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9507delG (p.Ile3170Leufs)	259266	ASPM	Pathogenic	199422188	RCV000020817;	N	MedGen:C1837501,OMIM:608716	1	197060109	197060109	NM_018136.4:c.9507delG	NP_060606.3:p.Ile3170Leufs	NC_000001.10:g.197060109delC	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9492T>G (p.Tyr3164Ter)	259266	ASPM	Pathogenic	143931757	RCV000020816;	N	MedGen:C1837501,OMIM:608716	1	197060124	197060124	NM_018136.4:c.9492T>G	NP_060606.3:p.Tyr3164Ter	NC_000001.10:g.197060124A>C,NC_000001.10:g.197060124A>G	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9492T>C (p.Tyr3164=)	259266	ASPM	Uncertain significance	143931757	RCV000145236;	N	MedGen:C1837501,OMIM:608716	1	197060124	197060124	NM_018136.4:c.9492T>C	NP_060606.3:p.Tyr3164=	NC_000001.10:g.197060124A>C,NC_000001.10:g.197060124A>G	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9454C>T (p.Arg3152Ter)	259266	ASPM	Pathogenic	587783292	RCV000145235; RCV000221824;	N	MedGen:C1837501,OMIM:608716; MedGen:CN221809	1	197060162	197060162	NM_018136.4:c.9454C>T	NP_060606.3:p.Arg3152Ter	NC_000001.10:g.197060162G>A	-	CN221809 not provided; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9444+8T>G	259266	ASPM	Benign;Uncertain significance	140150599	RCV000145234; RCV000176322;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197061029	197061029	NM_018136.4:c.9444+8T>G		NC_000001.10:g.197061029A>C	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9395T>G (p.Leu3132Arg)	259266	ASPM	Benign	36004306	RCV000020815; RCV000145233;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197061086	197061086	NM_018136.4:c.9395T>G	NP_060606.3:p.Leu3132Arg	NC_000001.10:g.197061086A>C,NC_000001.10:g.197061086A>G	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9395T>C (p.Leu3132Pro)	259266	ASPM	Uncertain significance	36004306	RCV000145232;	N	MedGen:C1837501,OMIM:608716	1	197061086	197061086	NM_018136.4:c.9395T>C	NP_060606.3:p.Leu3132Pro	NC_000001.10:g.197061086A>C,NC_000001.10:g.197061086A>G	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9320G>A (p.Arg3107Gln)	259266	ASPM	Uncertain significance	587783290	RCV000145230;	N	MedGen:C1837501,OMIM:608716	1	197061161	197061161	NM_018136.4:c.9320G>A	NP_060606.3:p.Arg3107Gln	NC_000001.10:g.197061161C>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9319C>T (p.Arg3107Ter)	259266	ASPM	Pathogenic	199422187	RCV000020813;	N	MedGen:C1837501,OMIM:608716	1	197061162	197061162	NM_018136.4:c.9319C>T	NP_060606.3:p.Arg3107Ter	NC_000001.10:g.197061162G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9309_9310delAG (p.Arg3103Serfs)	259266	ASPM	Pathogenic	587783289	RCV000145229;	N	MedGen:C1837501,OMIM:608716	1	197061171	197061172	NM_018136.4:c.9309_9310delAG	NP_060606.3:p.Arg3103Serfs	NC_000001.10:g.197061171_197061172delCT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9238A>T (p.Lys3080Ter)	259266	ASPM	Pathogenic	199422186	RCV000020812;	N	MedGen:C1837501,OMIM:608716	1	197062238	197062238	NM_018136.4:c.9238A>T	NP_060606.3:p.Lys3080Ter	NC_000001.10:g.197062238T>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9190C>T (p.Arg3064Ter)	259266	ASPM	Pathogenic	199422185	RCV000020811; RCV000219573;	N	MedGen:C1837501,OMIM:608716; MedGen:CN221809	1	197062286	197062286	NM_018136.4:c.9190C>T	NP_060606.3:p.Arg3064Ter	NC_000001.10:g.197062286G>A	-	CN221809 not provided; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9178C>T (p.Gln3060Ter)	259266	ASPM	Pathogenic	137852994	RCV000005248; RCV000214564;	N	MedGen:C1837501,OMIM:608716; MedGen:CN221809	1	197062298	197062298	NM_018136.4:c.9178C>T	NP_060606.3:p.Gln3060Ter	NC_000001.10:g.197062298G>A	OMIM Allelic Variant:605481.0005	CN221809 not provided; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9159delA (p.Lys3053Asnfs)	259266	ASPM	Pathogenic	199422184	RCV000005247;	N	MedGen:C1837501,OMIM:608716	1	197062317	197062317	NM_018136.4:c.9159delA	NP_060606.3:p.Lys3053Asnfs	NC_000001.10:g.197062317delT	OMIM Allelic Variant:605481.0004	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9118_9119insCATT (p.Tyr3040Serfs)	259266	ASPM	Pathogenic	199422183	RCV000020810;	N	MedGen:C1837501,OMIM:608716	1	197062357	197062358	NM_018136.4:c.9118_9119insCATT	NP_060606.3:p.Tyr3040Serfs	NC_000001.10:g.197062357_197062358insAATG	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9104T>A (p.Leu3035Ter)	259266	ASPM	Pathogenic	587783288	RCV000145226;	N	MedGen:C1837501,OMIM:608716	1	197062372	197062372	NM_018136.4:c.9104T>A	NP_060606.3:p.Leu3035Ter	NC_000001.10:g.197062372A>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.9091C>T (p.Arg3031Ter)	259266	ASPM	Pathogenic	587783287	RCV000145225;	N	MedGen:C1837501,OMIM:608716	1	197062385	197062385	NM_018136.4:c.9091C>T	NP_060606.3:p.Arg3031Ter	NC_000001.10:g.197062385G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.8903G>A (p.Trp2968Ter)	259266	ASPM	Pathogenic	587783285	RCV000145222;	N	MedGen:C1837501,OMIM:608716	1	197065212	197065212	NM_018136.4:c.8903G>A	NP_060606.3:p.Trp2968Ter	NC_000001.10:g.197065212C>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.8844delC (p.Lys2949Argfs)	259266	ASPM	Pathogenic	199422182	RCV000020809;	N	MedGen:C1837501,OMIM:608716	1	197065271	197065271	NM_018136.4:c.8844delC	NP_060606.3:p.Lys2949Argfs	NC_000001.10:g.197065271delG	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.8741T>C (p.Ile2914Thr)	259266	ASPM	Uncertain significance	200856894	RCV000145220;	N	MedGen:C1837501,OMIM:608716	1	197069640	197069640	NM_018136.4:c.8741T>C	NP_060606.3:p.Ile2914Thr	NC_000001.10:g.197069640A>G	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.8711_8712delAA (p.Gln2904Argfs)	259266	ASPM	Pathogenic	587783283	RCV000145219; RCV000219877;	N	MedGen:C1837501,OMIM:608716; MedGen:CN221809	1	197069669	197069670	NM_018136.4:c.8711_8712delAA	NP_060606.3:p.Gln2904Argfs	NC_000001.10:g.197069669_197069670delTT	-	CN221809 not provided; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.8704C>T (p.Gln2902Ter)	259266	ASPM	Pathogenic	587783282	RCV000145218;	N	MedGen:C1837501,OMIM:608716	1	197069677	197069677	NM_018136.4:c.8704C>T	NP_060606.3:p.Gln2902Ter	NC_000001.10:g.197069677G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.8668C>T (p.Gln2890Ter)	259266	ASPM	Pathogenic	199422181	RCV000020808;	N	MedGen:C1837501,OMIM:608716	1	197069713	197069713	NM_018136.4:c.8668C>T	NP_060606.3:p.Gln2890Ter	NC_000001.10:g.197069713G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.8524C>T (p.Arg2842Trp)	259266	ASPM	Uncertain significance	112946633	RCV000145217;	N	MedGen:C1837501,OMIM:608716	1	197069857	197069857	NM_018136.4:c.8524C>T	NP_060606.3:p.Arg2842Trp	NC_000001.10:g.197069857G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.8523A>G (p.Leu2841=)	259266	ASPM	Uncertain significance	587783281	RCV000145216;	N	MedGen:C1837501,OMIM:608716	1	197069858	197069858	NM_018136.4:c.8523A>G	NP_060606.3:p.Leu2841=	NC_000001.10:g.197069858T>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.8508_8509delGA (p.Lys2837Metfs)	259266	ASPM	Pathogenic	199422180	RCV000020807;	N	MedGen:C1837501,OMIM:608716	1	197069872	197069873	NM_018136.4:c.8508_8509delGA	NP_060606.3:p.Lys2837Metfs	NC_000001.10:g.197069872_197069873delTC	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.8506_8507delCA (p.Gln2836Glufs)	259266	ASPM	Pathogenic	587783280	RCV000145215;	N	MedGen:C1837501,OMIM:608716	1	197069874	197069875	NM_018136.4:c.8506_8507delCA	NP_060606.3:p.Gln2836Glufs	NC_000001.10:g.197069874_197069875delTG	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.8449G>T (p.Ala2817Ser)	259266	ASPM	Uncertain significance	117963393	RCV000145213;	N	MedGen:C1837501,OMIM:608716	1	197069932	197069932	NM_018136.4:c.8449G>T	NP_060606.3:p.Ala2817Ser	NC_000001.10:g.197069932C>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.8378delT (p.Met2793Argfs)	259266	ASPM	Pathogenic	199422179	RCV000020805;	N	MedGen:C1837501,OMIM:608716	1	197070003	197070003	NM_018136.4:c.8378delT	NP_060606.3:p.Met2793Argfs	NC_000001.10:g.197070003delA	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.8291A>G (p.Glu2764Gly)	259266	ASPM	Uncertain significance	587783279	RCV000145212;	N	MedGen:C1837501,OMIM:608716	1	197070090	197070090	NM_018136.4:c.8291A>G	NP_060606.3:p.Glu2764Gly	NC_000001.10:g.197070090T>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.8273T>A (p.Leu2758Ter)	259266	ASPM	Pathogenic	199422178	RCV000020804;	N	MedGen:C1837501,OMIM:608716	1	197070108	197070108	NM_018136.4:c.8273T>A	NP_060606.3:p.Leu2758Ter	NC_000001.10:g.197070108A>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.8203T>G (p.Phe2735Val)	259266	ASPM	Uncertain significance	372416792	RCV000145211;	N	MedGen:C1837501,OMIM:608716	1	197070178	197070178	NM_018136.4:c.8203T>G	NP_060606.3:p.Phe2735Val	NC_000001.10:g.197070178A>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.8190_8191delAG (p.Glu2731Lysfs)	259266	ASPM	Pathogenic	199422177	RCV000020803;	N	MedGen:C1837501,OMIM:608716	1	197070190	197070191	NM_018136.4:c.8190_8191delAG	NP_060606.3:p.Glu2731Lysfs	NC_000001.10:g.197070190_197070191delCT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.8133_8136delGAAA (p.Lys2712Leufs)	259266	ASPM	Pathogenic	587783278	RCV000145209;	N	MedGen:C1837501,OMIM:608716	1	197070245	197070248	NM_018136.4:c.8133_8136delGAAA	NP_060606.3:p.Lys2712Leufs	NC_000001.10:g.197070245_197070248delTTTC	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.8130_8131delAA (p.Lys2711Glufs)	259266	ASPM	Pathogenic	199422176	RCV000020802;	N	MedGen:C1837501,OMIM:608716	1	197070250	197070251	NM_018136.4:c.8130_8131delAA	NP_060606.3:p.Lys2711Glufs	NC_000001.10:g.197070250_197070251delTT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.8098C>T (p.Arg2700Ter)	259266	ASPM	Pathogenic	730882076	RCV000162061;	N	MedGen:C1837501,OMIM:608716	1	197070283	197070283	NM_018136.4:c.8098C>T	NP_060606.3:p.Arg2700Ter	NC_000001.10:g.197070283G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.8034C>A (p.Gly2678=)	259266	ASPM	Uncertain significance	587783276	RCV000145207;	N	MedGen:C1837501,OMIM:608716	1	197070347	197070347	NM_018136.4:c.8034C>A	NP_060606.3:p.Gly2678=	NC_000001.10:g.197070347G>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.8017C>T (p.Gln2673Ter)	259266	ASPM	Pathogenic	587783275	RCV000145206;	N	MedGen:C1837501,OMIM:608716	1	197070364	197070364	NM_018136.4:c.8017C>T	NP_060606.3:p.Gln2673Ter	NC_000001.10:g.197070364G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.8009T>C (p.Ile2670Thr)	259266	ASPM	Uncertain significance	41299627	RCV000145205;	N	MedGen:C1837501,OMIM:608716	1	197070372	197070372	NM_018136.4:c.8009T>C	NP_060606.3:p.Ile2670Thr	NC_000001.10:g.197070372A>G	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7939C>A (p.Leu2647Ile)	259266	ASPM	Benign	3762271	RCV000020801; RCV000145204;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197070442	197070442	NM_018136.4:c.7939C>A	NP_060606.3:p.Leu2647Ile	NC_000001.10:g.197070442G>T	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7894C>T (p.Gln2632Ter)	259266	ASPM	Pathogenic	199422175	RCV000020800;	N	MedGen:C1837501,OMIM:608716	1	197070487	197070487	NM_018136.4:c.7894C>T	NP_060606.3:p.Gln2632Ter	NC_000001.10:g.197070487G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7859_7860delAG (p.Gln2620Hisfs)	259266	ASPM	Pathogenic	199422174	RCV000020798;	N	MedGen:C1837501,OMIM:608716	1	197070521	197070522	NM_018136.4:c.7859_7860delAG	NP_060606.3:p.Gln2620Hisfs	NC_000001.10:g.197070521_197070522delCT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7860G>C (p.Gln2620His)	259266	ASPM	Benign	12138336	RCV000020799; RCV000145202;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197070521	197070521	NM_018136.4:c.7860G>C	NP_060606.3:p.Gln2620His	NC_000001.10:g.197070521C>G	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7857dupA (p.Gln2620Thrfs)	259266	ASPM	Pathogenic	797045316	RCV000192379;	N	MedGen:C1837501,OMIM:608716	1	197070524	197070524	NM_018136.4:c.7857dupA	NP_060606.3:p.Gln2620Thrfs	NC_000001.10:g.197070524dupT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7841A>G (p.Asp2614Gly)	259266	ASPM	Uncertain significance	587783273	RCV000145200;	N	MedGen:C1837501,OMIM:608716	1	197070540	197070540	NM_018136.4:c.7841A>G	NP_060606.3:p.Asp2614Gly	NC_000001.10:g.197070540T>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7825C>T (p.Gln2609Ter)	259266	ASPM	Pathogenic	587783272	RCV000145199;	N	MedGen:C1837501,OMIM:608716	1	197070556	197070556	NM_018136.4:c.7825C>T	NP_060606.3:p.Gln2609Ter	NC_000001.10:g.197070556G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7782_7783delGA (p.Lys2595Serfs)	259266	ASPM	Pathogenic	199422173	RCV000020796;	N	MedGen:C1837501,OMIM:608716	1	197070598	197070599	NM_018136.4:c.7782_7783delGA	NP_060606.3:p.Lys2595Serfs	NC_000001.10:g.197070598_197070599delTC	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7761T>G (p.Tyr2587Ter)	259266	ASPM	Pathogenic	189678019	RCV000005246;	N	MedGen:C1837501,OMIM:608716	1	197070620	197070620	NM_018136.4:c.7761T>G	NP_060606.3:p.Tyr2587Ter	NC_000001.10:g.197070620A>C	OMIM Allelic Variant:605481.0003	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7684A>G (p.Ser2562Gly)	259266	ASPM	Benign	41310927	RCV000020795; RCV000145195;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197070697	197070697	NM_018136.4:c.7684A>G	NP_060606.3:p.Ser2562Gly	NC_000001.10:g.197070697T>C	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7674C>T (p.Ile2558=)	259266	ASPM	Benign	41308365	RCV000020794; RCV000145194;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197070707	197070707	NM_018136.4:c.7674C>T	NP_060606.3:p.Ile2558=	NC_000001.10:g.197070707G>A,NC_000001.10:g.197070707G>T	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7670C>G (p.Ser2557Cys)	259266	ASPM	Uncertain significance	78215018	RCV000145192; RCV000217014;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197070711	197070711	NM_018136.4:c.7670C>G	NP_060606.3:p.Ser2557Cys	NC_000001.10:g.197070711G>C	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7665delA (p.Ala2556Leufs)	259266	ASPM	Pathogenic	587783269	RCV000145191;	N	MedGen:C1837501,OMIM:608716	1	197070716	197070716	NM_018136.4:c.7665delA	NP_060606.3:p.Ala2556Leufs	NC_000001.10:g.197070716delT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7612C>T (p.Gln2538Ter)	259266	ASPM	Pathogenic	587783268	RCV000145190;	N	MedGen:C1837501,OMIM:608716	1	197070769	197070769	NM_018136.4:c.7612C>T	NP_060606.3:p.Gln2538Ter	NC_000001.10:g.197070769G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7605G>A (p.Val2535=)	259266	ASPM	Benign	10922162	RCV000020793; RCV000145189;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197070776	197070776	NM_018136.4:c.7605G>A	NP_060606.3:p.Val2535=	NC_000001.10:g.197070776C>T	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7566A>G (p.Leu2522=)	259266	ASPM	Benign;Likely benign	1412640	RCV000020792; RCV000145187;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197070815	197070815	NM_018136.4:c.7566A>G	NP_060606.3:p.Leu2522=	NC_000001.10:g.197070815T>C	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7554A>G (p.Arg2518=)	259266	ASPM	Benign;Uncertain significance	140248383	RCV000145185; RCV000175352;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197070827	197070827	NM_018136.4:c.7554A>G	NP_060606.3:p.Arg2518=	NC_000001.10:g.197070827T>C	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7551T>C (p.Tyr2517=)	259266	ASPM	Uncertain significance	149228705	RCV000145184;	N	MedGen:C1837501,OMIM:608716	1	197070830	197070830	NM_018136.4:c.7551T>C	NP_060606.3:p.Tyr2517=	NC_000001.10:g.197070830A>G	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7489_7493delTATAT (p.Thr2499Serfs)	259266	ASPM	Pathogenic	199422172	RCV000020790;	N	MedGen:C1837501,OMIM:608716	1	197070888	197070892	NM_018136.4:c.7489_7493delTATAT	NP_060606.3:p.Thr2499Serfs	NC_000001.10:g.197070888_197070892delATATA	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7480T>C (p.Tyr2494His)	259266	ASPM	Benign	964201	RCV000020789; RCV000145183;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197070901	197070901	NM_018136.4:c.7480T>C	NP_060606.3:p.Tyr2494His	NC_000001.10:g.197070901A>G	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7461T>A (p.Ile2487=)	259266	ASPM	Benign	199422130	RCV000020788;	N	MedGen:C1837501,OMIM:608716	1	197070920	197070920	NM_018136.4:c.7461T>A	NP_060606.3:p.Ile2487=	NC_000001.10:g.197070920A>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7428G>T (p.Lys2476Asn)	259266	ASPM	Uncertain significance	200654820	RCV000145182;	N	MedGen:C1837501,OMIM:608716	1	197070953	197070953	NM_018136.4:c.7428G>T	NP_060606.3:p.Lys2476Asn	NC_000001.10:g.197070953C>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7308dupT (p.Val2437Cysfs)	259266	ASPM	Pathogenic	797045315	RCV000193254;	N	MedGen:C1837501,OMIM:608716	1	197071073	197071073	NM_018136.4:c.7308dupT	NP_060606.3:p.Val2437Cysfs	NC_000001.10:g.197071073dupA	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7160_7161delCT (p.Ser2387Cysfs)	259266	ASPM	Pathogenic	587783265	RCV000145180;	N	MedGen:C1837501,OMIM:608716	1	197071220	197071221	NM_018136.4:c.7160_7161delCT	NP_060606.3:p.Ser2387Cysfs	NC_000001.10:g.197071220_197071221delAG	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7124_7125insACTG (p.Gln2377Thrfs)	259266	ASPM	Pathogenic	587783263	RCV000145177;	N	MedGen:C1837501,OMIM:608716	1	197071253	197071256	NM_018136.4:c.7124_7125insACTG	NP_060606.3:p.Gln2377Thrfs	NC_000001.10:g.197071253_197071256dupCAGT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7074A>G (p.Lys2358=)	259266	ASPM	Uncertain significance	587783262	RCV000145176;	N	MedGen:C1837501,OMIM:608716	1	197071307	197071307	NM_018136.4:c.7074A>G	NP_060606.3:p.Lys2358=	NC_000001.10:g.197071307T>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.7062T>C (p.Tyr2354=)	259266	ASPM	Uncertain significance	587783261	RCV000145175;	N	MedGen:C1837501,OMIM:608716	1	197071319	197071319	NM_018136.4:c.7062T>C	NP_060606.3:p.Tyr2354=	NC_000001.10:g.197071319A>G	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.6960A>G (p.Ser2320=)	259266	ASPM	Uncertain significance	587783260	RCV000145173;	N	MedGen:C1837501,OMIM:608716	1	197071421	197071421	NM_018136.4:c.6960A>G	NP_060606.3:p.Ser2320=	NC_000001.10:g.197071421T>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.6852_6855delTCTC (p.Leu2285Argfs)	259266	ASPM	Pathogenic	587783259	RCV000145172;	N	MedGen:C1837501,OMIM:608716	1	197071526	197071529	NM_018136.4:c.6852_6855delTCTC	NP_060606.3:p.Leu2285Argfs	NC_000001.10:g.197071526_197071529delGAGA	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.6732delA (p.Tyr2245Thrfs)	259266	ASPM	Pathogenic	199422171	RCV000020787;	N	MedGen:C1837501,OMIM:608716	1	197071649	197071649	NM_018136.4:c.6732delA	NP_060606.3:p.Tyr2245Thrfs	NC_000001.10:g.197071649delT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.6717G>C (p.Leu2239=)	259266	ASPM	Uncertain significance	147100928	RCV000145169;	N	MedGen:C1837501,OMIM:608716	1	197071664	197071664	NM_018136.4:c.6717G>C	NP_060606.3:p.Leu2239=	NC_000001.10:g.197071664C>G	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.6651_6654delAACA (p.Thr2218Tyrfs)	259266	ASPM	Pathogenic	199422170	RCV000020786;	N	MedGen:C1837501,OMIM:608716	1	197071727	197071730	NM_018136.4:c.6651_6654delAACA	NP_060606.3:p.Thr2218Tyrfs	NC_000001.10:g.197071727_197071730delTGTT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.6335_6336delAT (p.Ile2113Serfs)	259266	ASPM	Pathogenic	199422169	RCV000020785;	N	MedGen:C1837501,OMIM:608716	1	197072045	197072046	NM_018136.4:c.6335_6336delAT	NP_060606.3:p.Ile2113Serfs	NC_000001.10:g.197072045_197072046delAT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.6334C>T (p.His2112Tyr)	259266	ASPM	Uncertain significance	587783257	RCV000145165;	N	MedGen:C1837501,OMIM:608716	1	197072047	197072047	NM_018136.4:c.6334C>T	NP_060606.3:p.His2112Tyr	NC_000001.10:g.197072047G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.6232C>T (p.Arg2078Ter)	259266	ASPM	Pathogenic	199422168	RCV000020784;	N	MedGen:C1837501,OMIM:608716	1	197072149	197072149	NM_018136.4:c.6232C>T	NP_060606.3:p.Arg2078Ter	NC_000001.10:g.197072149G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.6189T>G (p.Tyr2063Ter)	259266	ASPM	Pathogenic	137852997	RCV000005251;	N	MedGen:C1837501,OMIM:608716	1	197072192	197072192	NM_018136.4:c.6189T>G	NP_060606.3:p.Tyr2063Ter	NC_000001.10:g.197072192A>C	OMIM Allelic Variant:605481.0008	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.6131A>G (p.Asn2044Ser)	259266	ASPM	Uncertain significance	145645602	RCV000145163;	N	MedGen:C1837501,OMIM:608716	1	197072250	197072250	NM_018136.4:c.6131A>G	NP_060606.3:p.Asn2044Ser	NC_000001.10:g.197072250T>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.6125A>G (p.Asp2042Gly)	259266	ASPM	Likely benign;Uncertain significance	150327858	RCV000145162; RCV000175343;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197072256	197072256	NM_018136.4:c.6125A>G	NP_060606.3:p.Asp2042Gly	NC_000001.10:g.197072256T>C	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.6058A>G (p.Thr2020Ala)	259266	ASPM	Uncertain significance	587783253	RCV000145159;	N	MedGen:C1837501,OMIM:608716	1	197072323	197072323	NM_018136.4:c.6058A>G	NP_060606.3:p.Thr2020Ala	NC_000001.10:g.197072323T>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.5961A>G (p.Gln1987=)	259266	ASPM	Benign	41310925	RCV000020783; RCV000145156;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197072420	197072420	NM_018136.4:c.5961A>G	NP_060606.3:p.Gln1987=	NC_000001.10:g.197072420T>C	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.5947A>T (p.Met1983Leu)	259266	ASPM	Uncertain significance	141715950	RCV000145155; RCV000195047;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197072434	197072434	NM_018136.4:c.5947A>T	NP_060606.3:p.Met1983Leu	NC_000001.10:g.197072434T>A	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.5923A>G (p.Ile1975Val)	259266	ASPM	Uncertain significance	548744621	RCV000145154;	N	MedGen:C1837501,OMIM:608716	1	197072458	197072458	NM_018136.4:c.5923A>G	NP_060606.3:p.Ile1975Val	NC_000001.10:g.197072458T>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.5846A>G (p.His1949Arg)	259266	ASPM	Uncertain significance	186663906	RCV000145153;	N	MedGen:C1837501,OMIM:608716	1	197072535	197072535	NM_018136.4:c.5846A>G	NP_060606.3:p.His1949Arg	NC_000001.10:g.197072535T>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.5582A>G (p.Tyr1861Cys)	259266	ASPM	Uncertain significance	587783250	RCV000145148;	N	MedGen:C1837501,OMIM:608716	1	197072799	197072799	NM_018136.4:c.5582A>G	NP_060606.3:p.Tyr1861Cys	NC_000001.10:g.197072799T>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.5532T>G (p.Tyr1844Ter)	259266	ASPM	Likely pathogenic	797045314	RCV000193186;	N	MedGen:C1837501,OMIM:608716	1	197072849	197072849	NM_018136.4:c.5532T>G	NP_060606.3:p.Tyr1844Ter	NC_000001.10:g.197072849A>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.5510G>A (p.Gly1837Asp)	259266	ASPM	Uncertain significance	144969324	RCV000145146;	N	MedGen:C1837501,OMIM:608716	1	197072871	197072871	NM_018136.4:c.5510G>A	NP_060606.3:p.Gly1837Asp	NC_000001.10:g.197072871C>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.5452C>T (p.Arg1818Cys)	259266	ASPM	Uncertain significance	41299625	RCV000145145; RCV000217148;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197072929	197072929	NM_018136.4:c.5452C>T	NP_060606.3:p.Arg1818Cys	NC_000001.10:g.197072929G>A	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.5299G>C (p.Ala1767Pro)	259266	ASPM	Uncertain significance	142536561	RCV000145144; RCV000175345;	N	MedGen:C1837501,OMIM:608716; MedGen:CN221809	1	197073082	197073082	NM_018136.4:c.5299G>C	NP_060606.3:p.Ala1767Pro	NC_000001.10:g.197073082C>G	-	CN221809 not provided; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.5292G>A (p.Met1764Ile)	259266	ASPM	Uncertain significance	587783249	RCV000145143;	N	MedGen:C1837501,OMIM:608716	1	197073089	197073089	NM_018136.4:c.5292G>A	NP_060606.3:p.Met1764Ile	NC_000001.10:g.197073089C>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.5233C>T (p.Arg1745Ter)	259266	ASPM	Pathogenic	587783248	RCV000145142;	N	MedGen:C1837501,OMIM:608716	1	197073148	197073148	NM_018136.4:c.5233C>T	NP_060606.3:p.Arg1745Ter	NC_000001.10:g.197073148G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.5224T>C (p.Tyr1742His)	259266	ASPM	Uncertain significance	143733126	RCV000145141; RCV000221848;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197073157	197073157	NM_018136.4:c.5224T>C	NP_060606.3:p.Tyr1742His	NC_000001.10:g.197073157A>G	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.5196T>A (p.Cys1732Ter)	259266	ASPM	Pathogenic	587783247	RCV000145139;	N	MedGen:C1837501,OMIM:608716	1	197073185	197073185	NM_018136.4:c.5196T>A	NP_060606.3:p.Cys1732Ter	NC_000001.10:g.197073185A>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.5149delA (p.Ile1717Terfs)	259266	ASPM	Pathogenic	199422167	RCV000020781;	N	MedGen:C1837501,OMIM:608716	1	197073232	197073232	NM_018136.4:c.5149delA	NP_060606.3:p.Ile1717Terfs	NC_000001.10:g.197073232delT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.5136C>A (p.Tyr1712Ter)	259266	ASPM	Pathogenic	148294838	RCV000020780;	N	MedGen:C1837501,OMIM:608716	1	197073245	197073245	NM_018136.4:c.5136C>A	NP_060606.3:p.Tyr1712Ter	NC_000001.10:g.197073245G>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.5061A>G (p.Ser1687=)	259266	ASPM	Uncertain significance	587783246	RCV000145136;	N	MedGen:C1837501,OMIM:608716	1	197073320	197073320	NM_018136.4:c.5061A>G	NP_060606.3:p.Ser1687=	NC_000001.10:g.197073320T>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.4855_4856delTA (p.Ile1620Phefs)	259266	ASPM	Pathogenic	199422166	RCV000020779;	N	MedGen:C1837501,OMIM:608716	1	197073525	197073526	NM_018136.4:c.4855_4856delTA	NP_060606.3:p.Ile1620Phefs	NC_000001.10:g.197073525_197073526delTA	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.4795C>T (p.Arg1599Ter)	259266	ASPM	Pathogenic	199422165	RCV000020778;	N	MedGen:C1837501,OMIM:608716	1	197073586	197073586	NM_018136.4:c.4795C>T	NP_060606.3:p.Arg1599Ter	NC_000001.10:g.197073586G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.4733G>A (p.Arg1578Gln)	259266	ASPM	Uncertain significance	143822761	RCV000145135;	N	MedGen:C1837501,OMIM:608716	1	197073648	197073648	NM_018136.4:c.4733G>A	NP_060606.3:p.Arg1578Gln	NC_000001.10:g.197073648C>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.4728_4729delAG (p.Arg1576Serfs)	259266	ASPM	Pathogenic	587783245	RCV000145134;	N	MedGen:C1837501,OMIM:608716	1	197073652	197073653	NM_018136.4:c.4728_4729delAG	NP_060606.3:p.Arg1576Serfs	NC_000001.10:g.197073652_197073653delCT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.4581delA (p.Lys1528Argfs)	259266	ASPM	Pathogenic	199422164	RCV000020777;	N	MedGen:C1837501,OMIM:608716	1	197073800	197073800	NM_018136.4:c.4581delA	NP_060606.3:p.Lys1528Argfs	NC_000001.10:g.197073800delT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.4496G>T (p.Arg1499Leu)	259266	ASPM	Uncertain significance	140119882	RCV000145133; RCV000175344; RCV000217049;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374; MedGen:CN221809	1	197073885	197073885	NM_018136.4:c.4496G>T	NP_060606.3:p.Arg1499Leu	NC_000001.10:g.197073885C>A	-	CN221809 not provided; CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.4474G>C (p.Val1492Leu)	259266	ASPM	Uncertain significance	587783244	RCV000145132;	N	MedGen:C1837501,OMIM:608716	1	197073907	197073907	NM_018136.4:c.4474G>C	NP_060606.3:p.Val1492Leu	NC_000001.10:g.197073907C>G	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.4449A>G (p.Lys1483=)	259266	ASPM	Benign	2878749	RCV000020776; RCV000145131;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197073932	197073932	NM_018136.4:c.4449A>G	NP_060606.3:p.Lys1483=	NC_000001.10:g.197073932T>C	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.4445G>A (p.Arg1482Gln)	259266	ASPM	Uncertain significance	587783243	RCV000145130;	N	MedGen:C1837501,OMIM:608716	1	197073936	197073936	NM_018136.4:c.4445G>A	NP_060606.3:p.Arg1482Gln	NC_000001.10:g.197073936C>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.4443A>G (p.Leu1481=)	259266	ASPM	Uncertain significance	374040448	RCV000145129;	N	MedGen:C1837501,OMIM:608716	1	197073938	197073938	NM_018136.4:c.4443A>G	NP_060606.3:p.Leu1481=	NC_000001.10:g.197073938T>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.4195dupA (p.Thr1399Asnfs)	259266	ASPM	Pathogenic	199422163	RCV000005252;	N	MedGen:C1837501,OMIM:608716	1	197074186	197074186	NM_018136.4:c.4195dupA	NP_060606.3:p.Thr1399Asnfs	NC_000001.10:g.197074186dupT	OMIM Allelic Variant:605481.0009	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.4118_4120delATT (p.Tyr1373del)	259266	ASPM	Uncertain significance	587783241	RCV000145126;	N	MedGen:C1837501,OMIM:608716	1	197074261	197074263	NM_018136.4:c.4118_4120delATT	NP_060606.3:p.Tyr1373del	NC_000001.10:g.197074261_197074263delAAT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.4074G>A (p.Trp1358Ter)	259266	ASPM	Pathogenic	199422162	RCV000020774;	N	MedGen:C1837501,OMIM:608716	1	197074307	197074307	NM_018136.4:c.4074G>A	NP_060606.3:p.Trp1358Ter	NC_000001.10:g.197074307C>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.3978G>A (p.Trp1326Ter)	259266	ASPM	Pathogenic	137852995	RCV000005249;	N	MedGen:C1837501,OMIM:608716	1	197087006	197087006	NM_018136.4:c.3978G>A	NP_060606.3:p.Trp1326Ter	NC_000001.10:g.197087006C>T	OMIM Allelic Variant:605481.0006	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.3960_3961insA (p.Val1321Serfs)	259266	ASPM	Pathogenic	759632528	RCV000193074;	N	MedGen:C1837501,OMIM:608716	1	197087023	197087024	NM_018136.4:c.3960_3961insA	NP_060606.3:p.Val1321Serfs	NC_000001.10:g.197087023_197087024insT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.3960C>T (p.Leu1320=)	259266	ASPM	Uncertain significance	148964635	RCV000145125;	N	MedGen:C1837501,OMIM:608716	1	197087024	197087024	NM_018136.4:c.3960C>T	NP_060606.3:p.Leu1320=	NC_000001.10:g.197087024G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.3945_3946delAG (p.Arg1315Serfs)	259266	ASPM	Pathogenic	587783240	RCV000145124;	N	MedGen:C1837501,OMIM:608716	1	197087038	197087039	NM_018136.4:c.3945_3946delAG	NP_060606.3:p.Arg1315Serfs	NC_000001.10:g.197087038_197087039delCT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.3853_3854delGA (p.Asp1285Serfs)	259266	ASPM	Pathogenic	587783239	RCV000145122;	N	MedGen:C1837501,OMIM:608716	1	197091061	197091062	NM_018136.4:c.3853_3854delGA	NP_060606.3:p.Asp1285Serfs	NC_000001.10:g.197091061_197091062delTC	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.3830G>A (p.Trp1277Ter)	259266	ASPM	Pathogenic	587783238	RCV000145121;	N	MedGen:C1837501,OMIM:608716	1	197091085	197091085	NM_018136.4:c.3830G>A	NP_060606.3:p.Trp1277Ter	NC_000001.10:g.197091085C>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.3825A>C (p.Thr1275=)	259266	ASPM	Uncertain significance	587783237	RCV000145120;	N	MedGen:C1837501,OMIM:608716	1	197091090	197091090	NM_018136.4:c.3825A>C	NP_060606.3:p.Thr1275=	NC_000001.10:g.197091090T>G	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.3811C>T (p.Arg1271Ter)	259266	ASPM	Pathogenic	140602858	RCV000020773;	N	MedGen:C1837501,OMIM:608716	1	197091104	197091104	NM_018136.4:c.3811C>T	NP_060606.3:p.Arg1271Ter	NC_000001.10:g.197091104G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.3796G>T (p.Glu1266Ter)	259266	ASPM	Pathogenic	199422161	RCV000020772; RCV000216421;	N	MedGen:C1837501,OMIM:608716; MedGen:CN221809	1	197091119	197091119	NM_018136.4:c.3796G>T	NP_060606.3:p.Glu1266Ter	NC_000001.10:g.197091119C>A	-	CN221809 not provided; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.3741+1G>A	259266	ASPM	Pathogenic	199422160	RCV000020771;	N	MedGen:C1837501,OMIM:608716	1	197091288	197091288	NM_018136.4:c.3741+1G>A		NC_000001.10:g.197091288C>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.3710C>G (p.Ser1237Ter)	259266	ASPM	Pathogenic	199422159	RCV000020770;	N	MedGen:C1837501,OMIM:608716	1	197091320	197091320	NM_018136.4:c.3710C>G	NP_060606.3:p.Ser1237Ter	NC_000001.10:g.197091320G>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.3698T>C (p.Met1233Thr)	259266	ASPM	Uncertain significance	181039922	RCV000145115; RCV000174938;	N	MedGen:C1837501,OMIM:608716; MedGen:CN221809	1	197091332	197091332	NM_018136.4:c.3698T>C	NP_060606.3:p.Met1233Thr	NC_000001.10:g.197091332A>G	-	CN221809 not provided; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.3663delG (p.Arg1221Serfs)	259266	ASPM	Pathogenic	199422158	RCV000020769;	N	MedGen:C1837501,OMIM:608716	1	197091367	197091367	NM_018136.4:c.3663delG	NP_060606.3:p.Arg1221Serfs	NC_000001.10:g.197091367delC	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.3599-4A>G	259266	ASPM	Uncertain significance	149303254	RCV000145114; RCV000214044;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197091435	197091435	NM_018136.4:c.3599-4A>G		NC_000001.10:g.197091435T>C	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.3579T>A (p.Ser1193=)	259266	ASPM	Benign;Likely benign	4915337	RCV000020768; RCV000145113;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197091537	197091537	NM_018136.4:c.3579T>A	NP_060606.3:p.Ser1193=	NC_000001.10:g.197091537A>T	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.3527C>G (p.Ser1176Ter)	259266	ASPM	Pathogenic	199422157	RCV000020767;	N	MedGen:C1837501,OMIM:608716	1	197091589	197091589	NM_018136.4:c.3527C>G	NP_060606.3:p.Ser1176Ter	NC_000001.10:g.197091589G>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.3477_3481delCGCTA (p.Ala1160Metfs)	259266	ASPM	Pathogenic	199422156	RCV000020766;	N	MedGen:C1837501,OMIM:608716	1	197091635	197091639	NM_018136.4:c.3477_3481delCGCTA	NP_060606.3:p.Ala1160Metfs	NC_000001.10:g.197091635_197091639delTAGCG	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NG_015867.1:g.7014_28858del21845	259266	ASPM	Pathogenic	-1	RCV000034303;	N	MedGen:C1837501,OMIM:608716	1	197091967	197113811	-	-		dbVar:nssv1607648,dbVar:nsv930453	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.3390+3_3390+6del	259266	ASPM	Pathogenic	797045313	RCV000194147;	N	MedGen:C1837501,OMIM:608716	1	197093234	197093237	NM_018136.4:c.3390+3_3390+6del		NC_000001.10:g.197093234_197093237delACTT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.3327T>G (p.Tyr1109Ter)	259266	ASPM	Pathogenic	587783230	RCV000145111;	N	MedGen:C1837501,OMIM:608716	1	197093303	197093303	NM_018136.4:c.3327T>G	NP_060606.3:p.Tyr1109Ter	NC_000001.10:g.197093303A>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.3269C>T (p.Ser1090Phe)	259266	ASPM	Benign	16841081	RCV000020765; RCV000145110;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197093361	197093361	NM_018136.4:c.3269C>T	NP_060606.3:p.Ser1090Phe	NC_000001.10:g.197093361G>A	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.3188T>G (p.Leu1063Ter)	259266	ASPM	Pathogenic	199422155	RCV000020764;	N	MedGen:C1837501,OMIM:608716	1	197093442	197093442	NM_018136.4:c.3188T>G	NP_060606.3:p.Leu1063Ter	NC_000001.10:g.197093442A>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.3138G>A (p.Arg1046=)	259266	ASPM	Benign	6676084	RCV000020763; RCV000145109;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197094030	197094030	NM_018136.4:c.3138G>A	NP_060606.3:p.Arg1046=	NC_000001.10:g.197094030C>T	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.3082G>A (p.Gly1028Arg)	259266	ASPM	Pathogenic	199422154	RCV000020762;	N	MedGen:C1837501,OMIM:608716	1	197094176	197094176	NM_018136.4:c.3082G>A	NP_060606.3:p.Gly1028Arg	NC_000001.10:g.197094176C>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.3055C>T (p.Arg1019Ter)	259266	ASPM	Pathogenic	199422153	RCV000020761;	N	MedGen:C1837501,OMIM:608716	1	197094203	197094203	NM_018136.4:c.3055C>T	NP_060606.3:p.Arg1019Ter	NC_000001.10:g.197094203G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.2968delG (p.Asp990Thrfs)	259266	ASPM	Pathogenic	587783228	RCV000145105;	N	MedGen:C1837501,OMIM:608716	1	197094290	197094290	NM_018136.4:c.2968delG	NP_060606.3:p.Asp990Thrfs	NC_000001.10:g.197094290delC	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.2968G>A (p.Asp990Asn)	259266	ASPM	Uncertain significance	142537154	RCV000145106; RCV000174141;	N	MedGen:C1837501,OMIM:608716; MedGen:CN221809	1	197094290	197094290	NM_018136.4:c.2968G>A	NP_060606.3:p.Asp990Asn	NC_000001.10:g.197094290C>T	-	CN221809 not provided; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.2967G>A (p.Trp989Ter)	259266	ASPM	Pathogenic	199422152	RCV000020760;	N	MedGen:C1837501,OMIM:608716	1	197094291	197094291	NM_018136.4:c.2967G>A	NP_060606.3:p.Trp989Ter	NC_000001.10:g.197094291C>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.2938C>T (p.Arg980Ter)	259266	ASPM	Pathogenic	199422151	RCV000020759;	N	MedGen:C1837501,OMIM:608716	1	197094320	197094320	NM_018136.4:c.2938C>T	NP_060606.3:p.Arg980Ter	NC_000001.10:g.197094320G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.2936+5G>T	259266	ASPM	Pathogenic	199422150	RCV000020758;	N	MedGen:C1837501,OMIM:608716	1	197097615	197097615	NM_018136.4:c.2936+5G>T		NC_000001.10:g.197097615C>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.2936dupT (p.Arg980Alafs)	259266	ASPM	Pathogenic	797045311	RCV000194072;	N	MedGen:C1837501,OMIM:608716	1	197097620	197097620	NM_018136.4:c.2936dupT	NP_060606.3:p.Arg980Alafs	NC_000001.10:g.197097620dupA	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.2914T>G (p.Leu972Val)	259266	ASPM	Uncertain significance	552158003	RCV000145104;	N	MedGen:C1837501,OMIM:608716	1	197097642	197097642	NM_018136.4:c.2914T>G	NP_060606.3:p.Leu972Val	NC_000001.10:g.197097642A>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.2805T>C (p.Ser935=)	259266	ASPM	Benign	113161395	RCV000020757; RCV000145103;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197097751	197097751	NM_018136.4:c.2805T>C	NP_060606.3:p.Ser935=	NC_000001.10:g.197097751A>G	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.2791C>T (p.Arg931Ter)	259266	ASPM	Pathogenic	587783227	RCV000145102;	N	MedGen:C1837501,OMIM:608716	1	197097765	197097765	NM_018136.4:c.2791C>T	NP_060606.3:p.Arg931Ter	NC_000001.10:g.197097765G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.2779T>C (p.Leu927=)	259266	ASPM	Benign	199422129	RCV000020756;	N	MedGen:C1837501,OMIM:608716	1	197097777	197097777	NM_018136.4:c.2779T>C	NP_060606.3:p.Leu927=	NC_000001.10:g.197097777A>G	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.2761-25A>G	259266	ASPM	Pathogenic	199422149	RCV000020755;	N	MedGen:C1837501,OMIM:608716	1	197097820	197097820	NM_018136.4:c.2761-25A>G		NC_000001.10:g.197097820T>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.2724T>C (p.His908=)	259266	ASPM	Uncertain significance	587783226	RCV000145100;	N	MedGen:C1837501,OMIM:608716	1	197098353	197098353	NM_018136.4:c.2724T>C	NP_060606.3:p.His908=	NC_000001.10:g.197098353A>G	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.2606C>T (p.Thr869Ile)	259266	ASPM	Benign	7551108	RCV000020754;	N	MedGen:C1837501,OMIM:608716	1	197099068	197099068	NM_018136.4:c.2606C>T	NP_060606.3:p.Thr869Ile	NC_000001.10:g.197099068G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.2419+2T>C	259266	ASPM	Pathogenic	587783225	RCV000145099; RCV000222536;	N	MedGen:C1837501,OMIM:608716; MedGen:CN221809	1	197102478	197102478	NM_018136.4:c.2419+2T>C		NC_000001.10:g.197102478A>G	-	CN221809 not provided; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.2389C>T (p.Arg797Ter)	259266	ASPM	Pathogenic	145489194	RCV000005253;	N	MedGen:C1837501,OMIM:608716	1	197102510	197102510	NM_018136.4:c.2389C>T	NP_060606.3:p.Arg797Ter	NC_000001.10:g.197102510G>A	OMIM Allelic Variant:605481.0010	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.1990C>T (p.Gln664Ter)	259266	ASPM	Pathogenic	199422148	RCV000020752;	N	MedGen:C1837501,OMIM:608716	1	197108933	197108933	NM_018136.4:c.1990C>T	NP_060606.3:p.Gln664Ter	NC_000001.10:g.197108933G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.1977T>C (p.Ile659=)	259266	ASPM	Benign	17550662	RCV000020751; RCV000145092;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197108946	197108946	NM_018136.4:c.1977T>C	NP_060606.3:p.Ile659=	NC_000001.10:g.197108946A>G	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.1959_1962delCAAA (p.Asn653Lysfs)	259266	ASPM	Pathogenic	199422147	RCV000020750; RCV000215743;	N	MedGen:C1837501,OMIM:608716; MedGen:CN221809	1	197108961	197108964	NM_018136.4:c.1959_1962delCAAA	NP_060606.3:p.Asn653Lysfs	NC_000001.10:g.197108961_197108964delTTTG	-	CN221809 not provided; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.1949C>G (p.Ser650Cys)	259266	ASPM	Uncertain significance	112997359	RCV000145091;	N	MedGen:C1837501,OMIM:608716	1	197108974	197108974	NM_018136.4:c.1949C>G	NP_060606.3:p.Ser650Cys	NC_000001.10:g.197108974G>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.1922-14C>G	259266	ASPM	Uncertain significance	189193044	RCV000145089;	N	MedGen:C1837501,OMIM:608716	1	197109015	197109015	NM_018136.4:c.1922-14C>G		NC_000001.10:g.197109015G>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.1740C>G (p.Ser580Arg)	259266	ASPM	Uncertain significance	147457270	RCV000145088;	N	MedGen:C1837501,OMIM:608716	1	197111642	197111642	NM_018136.4:c.1740C>G	NP_060606.3:p.Ser580Arg	NC_000001.10:g.197111642G>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.1726_1729delAAGA (p.Lys576Alafs)	259266	ASPM	Pathogenic	587783221	RCV000145087;	N	MedGen:C1837501,OMIM:608716	1	197111653	197111656	NM_018136.4:c.1726_1729delAAGA	NP_060606.3:p.Lys576Alafs	NC_000001.10:g.197111653_197111656delTCTT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.1727_1728delAG (p.Ser577Argfs)	259266	ASPM	Pathogenic	199422146	RCV000020749;	N	MedGen:C1837501,OMIM:608716	1	197111654	197111655	NM_018136.4:c.1727_1728delAG	NP_060606.3:p.Ser577Argfs	NC_000001.10:g.197111654_197111655delCT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.1717C>T (p.Arg573Trp)	259266	ASPM	Uncertain significance	144049904	RCV000145086;	N	MedGen:C1837501,OMIM:608716	1	197111665	197111665	NM_018136.4:c.1717C>T	NP_060606.3:p.Arg573Trp	NC_000001.10:g.197111665G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.1671_1672delTT (p.Ser557Argfs)	259266	ASPM	Pathogenic	587783220	RCV000145085;	N	MedGen:C1837501,OMIM:608716	1	197111710	197111711	NM_018136.4:c.1671_1672delTT	NP_060606.3:p.Ser557Argfs	NC_000001.10:g.197111710_197111711delAA	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.1631_1635delATCTT (p.Tyr544Serfs)	259266	ASPM	Pathogenic	199422144	RCV000020748;	N	MedGen:C1837501,OMIM:608716	1	197111747	197111751	NM_018136.4:c.1631_1635delATCTT	NP_060606.3:p.Tyr544Serfs	NC_000001.10:g.197111747_197111751delAAGAT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.1590delA (p.Val531Terfs)	259266	ASPM	Pathogenic	199422143	RCV000020746;	N	MedGen:C1837501,OMIM:608716	1	197111792	197111792	NM_018136.4:c.1590delA	NP_060606.3:p.Val531Terfs	NC_000001.10:g.197111792delT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.1495A>G (p.Lys499Glu)	259266	ASPM	Uncertain significance	587783219	RCV000145084;	N	MedGen:C1837501,OMIM:608716	1	197111887	197111887	NM_018136.4:c.1495A>G	NP_060606.3:p.Lys499Glu	NC_000001.10:g.197111887T>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.1406_1413delATCCTAAA (p.Asn469Ilefs)	259266	ASPM	Pathogenic	199422142	RCV000020745;	N	MedGen:C1837501,OMIM:608716	1	197111969	197111976	NM_018136.4:c.1406_1413delATCCTAAA	NP_060606.3:p.Asn469Ilefs	NC_000001.10:g.197111969_197111976delTTTAGGAT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.1388G>A (p.Ser463Asn)	259266	ASPM	Uncertain significance	587783218	RCV000145082;	N	MedGen:C1837501,OMIM:608716	1	197111994	197111994	NM_018136.4:c.1388G>A	NP_060606.3:p.Ser463Asn	NC_000001.10:g.197111994C>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.1366G>T (p.Glu456Ter)	259266	ASPM	Pathogenic	199422141	RCV000020744;	N	MedGen:C1837501,OMIM:608716	1	197112016	197112016	NM_018136.4:c.1366G>T	NP_060606.3:p.Glu456Ter	NC_000001.10:g.197112016C>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.1288A>G (p.Arg430Gly)	259266	ASPM	Benign	6428388	RCV000020743; RCV000145081;	N	MedGen:C1837501,OMIM:608716; MedGen:CN169374	1	197112094	197112094	NM_018136.4:c.1288A>G	NP_060606.3:p.Arg430Gly	NC_000001.10:g.197112094T>C	-	CN169374 not specified; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.1260_1266delTCAAGTC (p.Gln421Hisfs)	259266	ASPM	Pathogenic	199422139	RCV000020742;	N	MedGen:C1837501,OMIM:608716	1	197112116	197112122	NM_018136.4:c.1260_1266delTCAAGTC	NP_060606.3:p.Gln421Hisfs	NC_000001.10:g.197112116_197112122delGACTTGA	OMIM Allelic Variant:605481.0002	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.1201A>G (p.Met401Val)	259266	ASPM	Uncertain significance	587783217	RCV000145080;	N	MedGen:C1837501,OMIM:608716	1	197112181	197112181	NM_018136.4:c.1201A>G	NP_060606.3:p.Met401Val	NC_000001.10:g.197112181T>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.1179delT (p.Asn394Ilefs)	259266	ASPM	Pathogenic	199422138	RCV000020741;	N	MedGen:C1837501,OMIM:608716	1	197112203	197112203	NM_018136.4:c.1179delT	NP_060606.3:p.Asn394Ilefs	NC_000001.10:g.197112203delA	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.1152_1153delAG (p.Glu385Valfs)	259266	ASPM	Pathogenic	199422137	RCV000020740;	N	MedGen:C1837501,OMIM:608716	1	197112229	197112230	NM_018136.4:c.1152_1153delAG	NP_060606.3:p.Glu385Valfs	NC_000001.10:g.197112229_197112230delCT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.1138C>T (p.Gln380Ter)	259266	ASPM	Likely pathogenic;Pathogenic	587783215	RCV000145078; RCV000171162;	N	MedGen:C1837501,OMIM:608716; MedGen:CN221809	1	197112244	197112244	NM_018136.4:c.1138C>T	NP_060606.3:p.Gln380Ter	NC_000001.10:g.197112244G>A	-	CN221809 not provided; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.1007C>A (p.Thr336Lys)	259266	ASPM	Uncertain significance	112113370	RCV000145070;	N	MedGen:C1837501,OMIM:608716	1	197112375	197112375	NM_018136.4:c.1007C>A	NP_060606.3:p.Thr336Lys	NC_000001.10:g.197112375G>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.1002delA (p.Val335Terfs)	259266	ASPM	Pathogenic	199422136	RCV000020738;	N	MedGen:C1837501,OMIM:608716	1	197112380	197112380	NM_018136.4:c.1002delA	NP_060606.3:p.Val335Terfs	NC_000001.10:g.197112380delT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.937A>G (p.Ile313Val)	259266	ASPM	Benign;Uncertain significance	12025066	RCV000020814;	N	MedGen:C1837501,OMIM:608716	1	197112445	197112445	NM_018136.4:c.937A>G	NP_060606.3:p.Ile313Val	NC_000001.10:g.197112445T>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.905G>A (p.Cys302Tyr)	259266	ASPM	Uncertain significance	77736715	RCV000145224;	N	MedGen:C1837501,OMIM:608716	1	197112477	197112477	NM_018136.4:c.905G>A	NP_060606.3:p.Cys302Tyr	NC_000001.10:g.197112477C>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.848C>T (p.Ser283Phe)	259266	ASPM	Benign	199422128	RCV000020806;	N	MedGen:C1837501,OMIM:608716	1	197112534	197112534	NM_018136.4:c.848C>T	NP_060606.3:p.Ser283Phe	NC_000001.10:g.197112534G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.844A>C (p.Asn282His)	259266	ASPM	Uncertain significance	113777932	RCV000145214;	N	MedGen:C1837501,OMIM:608716	1	197112538	197112538	NM_018136.4:c.844A>C	NP_060606.3:p.Asn282His	NC_000001.10:g.197112538T>G	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.803_804delAA (p.Lys268Serfs)	259266	ASPM	Pathogenic	587783277	RCV000145208;	N	MedGen:C1837501,OMIM:608716	1	197112578	197112579	NM_018136.4:c.803_804delAA	NP_060606.3:p.Lys268Serfs	NC_000001.10:g.197112578_197112579delTT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.719_720delCT (p.Ser240Cysfs)	259266	ASPM	Pathogenic	199422135	RCV000005244;	N	MedGen:C1837501,OMIM:608716	1	197112662	197112663	NM_018136.4:c.719_720delCT	NP_060606.3:p.Ser240Cysfs	NC_000001.10:g.197112662_197112663delAG	OMIM Allelic Variant:605481.0001	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.646G>A (p.Glu216Lys)	259266	ASPM	Uncertain significance	151050191	RCV000145168; RCV000210594;	N	MedGen:C0950123; MedGen:C1837501,OMIM:608716	1	197112736	197112736	NM_018136.4:c.646G>A	NP_060606.3:p.Glu216Lys	NC_000001.10:g.197112736C>T	-	C0950123 Inborn genetic diseases; C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.637delA (p.Ile213Tyrfs)	259266	ASPM	Pathogenic	587783258	RCV000145166;	N	MedGen:C1837501,OMIM:608716	1	197112745	197112745	NM_018136.4:c.637delA	NP_060606.3:p.Ile213Tyrfs	NC_000001.10:g.197112745delT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.609C>T (p.Gly203=)	259266	ASPM	Uncertain significance	587783255	RCV000145161;	N	MedGen:C1837501,OMIM:608716	1	197112773	197112773	NM_018136.4:c.609C>T	NP_060606.3:p.Gly203=	NC_000001.10:g.197112773G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.601A>G (p.Asn201Asp)	259266	ASPM	Uncertain significance	370907931	RCV000145158;	N	MedGen:C1837501,OMIM:608716	1	197112781	197112781	NM_018136.4:c.601A>G	NP_060606.3:p.Asn201Asp	NC_000001.10:g.197112781T>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.577C>T (p.Gln193Ter)	259266	ASPM	Likely pathogenic;Pathogenic	199422134	RCV000020782;	N	MedGen:C1837501,OMIM:608716	1	197112805	197112805	NM_018136.4:c.577C>T	NP_060606.3:p.Gln193Ter	NC_000001.10:g.197112805G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.562G>C (p.Val188Leu)	259266	ASPM	Uncertain significance	587783251	RCV000145151;	N	MedGen:C1837501,OMIM:608716	1	197112820	197112820	NM_018136.4:c.562G>C	NP_060606.3:p.Val188Leu	NC_000001.10:g.197112820C>G	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.441+10T>G	259266	ASPM	Uncertain significance	587783242	RCV000145128;	N	MedGen:C1837501,OMIM:608716	1	197113077	197113077	NM_018136.4:c.441+10T>G		NC_000001.10:g.197113077A>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.440delA (p.Lys147Argfs)	259266	ASPM	Pathogenic	199422133	RCV000020775;	N	MedGen:C1837501,OMIM:608716	1	197113088	197113088	NM_018136.4:c.440delA	NP_060606.3:p.Lys147Argfs	NC_000001.10:g.197113088delT	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.349C>T (p.Arg117Ter)	259266	ASPM	Pathogenic	137852996	RCV000005250;	N	MedGen:C1837501,OMIM:608716	1	197113179	197113179	NM_018136.4:c.349C>T	NP_060606.3:p.Arg117Ter	NC_000001.10:g.197113179G>A	OMIM Allelic Variant:605481.0007	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.309A>G (p.Lys103=)	259266	ASPM	Uncertain significance	587783229	RCV000145108;	N	MedGen:C1837501,OMIM:608716	1	197113219	197113219	NM_018136.4:c.309A>G	NP_060606.3:p.Lys103=	NC_000001.10:g.197113219T>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.301A>G (p.Lys101Glu)	259266	ASPM	Uncertain significance	549294276	RCV000145107;	N	MedGen:C1837501,OMIM:608716	1	197113227	197113227	NM_018136.4:c.301A>G	NP_060606.3:p.Lys101Glu	NC_000001.10:g.197113227T>C	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.117_118delGT (p.Leu41Glnfs)	259266	ASPM	Pathogenic	587783216	RCV000145079;	N	MedGen:C1837501,OMIM:608716	1	197115450	197115451	NM_018136.4:c.117_118delGT	NP_060606.3:p.Leu41Glnfs	NC_000001.10:g.197115450_197115451delAC	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.112G>A (p.Val38Ile)	259266	ASPM	Uncertain significance	587783214	RCV000145077;	N	MedGen:C1837501,OMIM:608716	1	197115456	197115456	NM_018136.4:c.112G>A	NP_060606.3:p.Val38Ile	NC_000001.10:g.197115456C>T	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.77delG (p.Gly26Alafs)	259266	ASPM	Pathogenic	199422131	RCV000020797;	N	MedGen:C1837501,OMIM:608716	1	197115491	197115491	NM_018136.4:c.77delG	NP_060606.3:p.Gly26Alafs	NC_000001.10:g.197115491delC	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.59C>T (p.Pro20Leu)	259266	ASPM	Uncertain significance	587783252	RCV000145157;	N	MedGen:C1837501,OMIM:608716	1	197115509	197115509	NM_018136.4:c.59C>T	NP_060606.3:p.Pro20Leu	NC_000001.10:g.197115509G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.-9G>T	259266	ASPM	Uncertain significance	141108591	RCV000145069;	N	MedGen:C1837501,OMIM:608716	1	197115576	197115576	NM_018136.4:c.-9G>T		NC_000001.10:g.197115576C>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5
NM_018136.4(ASPM):c.-110C>T	259266	ASPM	Uncertain significance	74981632	RCV000145068;	N	MedGen:C1837501,OMIM:608716	1	197115677	197115677	NM_018136.4:c.-110C>T		NC_000001.10:g.197115677G>A	-	C1837501 608716 Primary autosomal recessive microcephaly 5