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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, 1 (C565384)
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:

7186

Name:

Microcephaly, Primary Autosomal Recessive, 1

Definition:

Alternative IDs:

OMIM:251200

ParentIDs:

MESH:D008831

TreeNumbers:

C05.660.207.620/C565384 |C10.500.507.400.500/C565384 |C16.131.621.207.620/C565384 |C16.131.666.507.400.500/C565384

Synonyms:

MCPH1 |MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE |PCC SYNDROME |Premature Chromosome Condensation Syndrome |Premature Chromosome Condensation with Microcephaly and Mental Retardation

Slim Mappings:

Congenital abnormality|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C565384
MeSH: C565384
OMIM: 251200;

Genes: MCPH1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003451	Increased rate of premature chromosome condensation
3	HP:0001249	Intellectual disability
4	HP:0000252	Microcephaly
5	HP:0001250	Seizure
6	HP:0004322	Short stature	HP:0040283
7	HP:0002472	Small cerebral cortex

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
NC_000008.11:g.(6203133_6203648)_(6453217_6459745)del	-1	-	Pathogenic	-1	RCV000190354;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6060654	6317266	-	-		-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.2214C>T (p.Pro738=)	-1	-	Uncertain significance	35344839	RCV000146296;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6357450	6357450	NM_024596.4:c.2214C>T	NP_078872.2:p.Pro738=	NC_000008.10:g.6357450C>T	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.2256C>G (p.Arg752=)	-1	-	Uncertain significance	35999761	RCV000146300;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6479016	6479016	NM_024596.4:c.2256C>G	NP_078872.2:p.Arg752=		-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.2256C>T (p.Arg752=)	-1	-	Uncertain significance	35999761	RCV000146301;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6479016	6479016	NM_024596.4:c.2256C>T	NP_078872.2:p.Arg752=		-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.2257G>C (p.Gly753Arg)	-1	-	Uncertain significance	587783737	RCV000146302;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6479017	6479017	NM_024596.4:c.2257G>C	NP_078872.2:p.Gly753Arg	NC_000008.10:g.6479017G>C	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.2282C>T (p.Ala761Val)	-1	-	Benign	1057090	RCV000020900; RCV000146305;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183; MedGen:CN169374	8	6479042	6479042	NM_024596.4:c.2282C>T	NP_078872.2:p.Ala761Val		HGMD:CM081694	CN169374 not specified; C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.2288T>C (p.Phe763Ser)	-1	-	Uncertain significance	587783738	RCV000146306;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6479048	6479048	NM_024596.4:c.2288T>C	NP_078872.2:p.Phe763Ser	NC_000008.10:g.6479048T>C	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.2401A>G (p.Ser801Gly)	-1	-	Benign;Uncertain significance	45540031	RCV000146312; RCV000174601;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183; MedGen:CN169374	8	6479161	6479161	NM_024596.4:c.2401A>G	NP_078872.2:p.Ser801Gly		-	CN169374 not specified; C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.2429A>G (p.Tyr810Cys)	-1	-	Uncertain significance	35013679	RCV000146314;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6479189	6479189	NM_024596.4:c.2429A>G	NP_078872.2:p.Tyr810Cys	NC_000008.10:g.6479189A>G	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.2452+9C>A	-1	-	Uncertain significance	200446680	RCV000146316;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6479221	6479221	NM_024596.4:c.2452+9C>A		NC_000008.10:g.6479221C>A	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.2453-14C>T	-1	-	Uncertain significance	17077744	RCV000146318;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6500501	6500501	NM_024596.4:c.2453-14C>T		NC_000008.10:g.6500501C>T	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.2453-1G>C	-1	-	Likely pathogenic;Pathogenic	587783739	RCV000146319; RCV000171411;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183; MedGen:CN221809	8	6500514	6500514	NM_024596.4:c.2453-1G>C			-	CN221809 not provided; C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.2466G>A (p.Gln822=)	-1	-	Uncertain significance	35614690	RCV000146320;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6500528	6500528	NM_024596.4:c.2466G>A	NP_078872.2:p.Gln822=	NC_000008.10:g.6500528G>A	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.2482C>T (p.Pro828Ser)	-1	-	Benign	1057091	RCV000020901; RCV000146321;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183; MedGen:CN169374	8	6500544	6500544	NM_024596.4:c.2482C>T	NP_078872.2:p.Pro828Ser		-	CN169374 not specified; C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.2499G>T (p.Leu833Phe)	-1	-	Uncertain significance	34009706	RCV000146323;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6500561	6500561	NM_024596.4:c.2499G>T	NP_078872.2:p.Leu833Phe	NC_000008.10:g.6500561G>T	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NC_000008.11:g.(?_6406592)_(6439097_6442066)del	79648	MCPH1	Pathogenic	-1	RCV000003620;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6264113	6299587	-	-		OMIM Allelic Variant:607117.0003,dbVar:nssv1415000,dbVar:nsv513772	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.74C>G (p.Ser25Ter)	79648	MCPH1	Pathogenic	121434305	RCV000003618;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6266851	6266851	NM_024596.4:c.74C>G	NP_078872.2:p.Ser25Ter	NC_000008.10:g.6266851C>G	OMIM Allelic Variant:607117.0001	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.80C>G (p.Thr27Arg)	79648	MCPH1	Pathogenic	199422124	RCV000020902;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6266857	6266857	NM_024596.4:c.80C>G	NP_078872.2:p.Thr27Arg	NC_000008.10:g.6266857C>G	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.128T>C (p.Phe43Ser)	79648	MCPH1	Likely pathogenic	587783733	RCV000146272;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6272299	6272299	NM_024596.4:c.128T>C	NP_078872.2:p.Phe43Ser	NC_000008.10:g.6272299T>C	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.215C>T (p.Ser72Leu)	79648	MCPH1	Pathogenic	387906961	RCV000023616;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6272386	6272386	NM_024596.4:c.215C>T	NP_078872.2:p.Ser72Leu	NC_000008.10:g.6272386C>T	OMIM Allelic Variant:607117.0006	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.278C>A (p.Ala93Glu)	79648	MCPH1	Likely pathogenic	587783741	RCV000146324;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6289064	6289064	NM_024596.4:c.278C>A	NP_078872.2:p.Ala93Glu	NC_000008.10:g.6289064C>A	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.305G>C (p.Ser102Thr)	79648	MCPH1	Uncertain significance	2290145	RCV000146325;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6289091	6289091	NM_024596.4:c.305G>C	NP_078872.2:p.Ser102Thr	NC_000008.10:g.6289091G>C	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.427dupA (p.Thr143Asnfs)	79648	MCPH1	Pathogenic	199422125	RCV000003619;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6293674	6293674	NM_024596.4:c.427dupA	NP_078872.2:p.Thr143Asnfs	NC_000008.10:g.6293674dupA	OMIM Allelic Variant:607117.0002	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.433C>G (p.Leu145Val)	79648	MCPH1	Uncertain significance	139607465	RCV000146326;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6293680	6293680	NM_024596.4:c.433C>G	NP_078872.2:p.Leu145Val		-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.477A>T (p.Ser159=)	79648	MCPH1	Likely benign;Uncertain significance	41313948	RCV000146327; RCV000179528;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183; MedGen:CN169374	8	6296514	6296514	NM_024596.4:c.477A>T	NP_078872.2:p.Ser159=		-	CN169374 not specified; C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.614C>T (p.Pro205Leu)	79648	MCPH1	Uncertain significance	587783742	RCV000146328;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6299621	6299621	NM_024596.4:c.614C>T	NP_078872.2:p.Pro205Leu	NC_000008.10:g.6299621C>T	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.867G>A (p.Gln289=)	79648	MCPH1	Uncertain significance	201231900	RCV000146334;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6302110	6302110	NM_024596.4:c.867G>A	NP_078872.2:p.Gln289=	NC_000008.10:g.6302110G>A	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.898A>G (p.Ile300Val)	79648	MCPH1	Uncertain significance	587783743	RCV000146335;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6302141	6302141	NM_024596.4:c.898A>G	NP_078872.2:p.Ile300Val	NC_000008.10:g.6302141A>G	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.940G>C (p.Asp314His)	79648	MCPH1	Benign;Likely benign	930557	RCV000020903; RCV000146337;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183; MedGen:CN169374	8	6302183	6302183	NM_024596.4:c.940G>C	NP_078872.2:p.Asp314His		-	CN169374 not specified; C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.1061T>C (p.Val354Ala)	79648	MCPH1	Uncertain significance	148526209	RCV000146268;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6302304	6302304	NM_024596.4:c.1061T>C	NP_078872.2:p.Val354Ala	NC_000008.10:g.6302304T>C	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.1113C>T (p.Cys371=)	79648	MCPH1	Uncertain significance	587783732	RCV000146269;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6302356	6302356	NM_024596.4:c.1113C>T	NP_078872.2:p.Cys371=	NC_000008.10:g.6302356C>T	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.1189G>A (p.Val397Met)	79648	MCPH1	Uncertain significance	539491399	RCV000146270;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6302432	6302432	NM_024596.4:c.1189G>A	NP_078872.2:p.Val397Met	NC_000008.10:g.6302432G>A	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.1273T>A (p.Tyr425Asn)	79648	MCPH1	Uncertain significance	201261159	RCV000146271;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6302516	6302516	NM_024596.4:c.1273T>A	NP_078872.2:p.Tyr425Asn	NC_000008.10:g.6302516T>A	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.1351G>A (p.Glu451Lys)	79648	MCPH1	Uncertain significance	202004426	RCV000146273;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6302594	6302594	NM_024596.4:c.1351G>A	NP_078872.2:p.Glu451Lys	NC_000008.10:g.6302594G>A	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.1495G>A (p.Val499Met)	79648	MCPH1	Benign;Uncertain significance	146586991	RCV000146274; RCV000082201;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183; MedGen:CN169374	8	6302738	6302738	NM_024596.4:c.1495G>A	NP_078872.2:p.Val499Met		-	CN169374 not specified; C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.1616A>G (p.Asp539Gly)	79648	MCPH1	Uncertain significance	587783734	RCV000146275;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6302859	6302859	NM_024596.4:c.1616A>G	NP_078872.2:p.Asp539Gly	NC_000008.10:g.6302859A>G	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.1679G>T (p.Ser560Ile)	79648	MCPH1	Uncertain significance	201405704	RCV000146276;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6302922	6302922	NM_024596.4:c.1679G>T	NP_078872.2:p.Ser560Ile	NC_000008.10:g.6302922G>T	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.1716C>T (p.Asn572=)	79648	MCPH1	Uncertain significance	141218500	RCV000146277;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6302959	6302959	NM_024596.4:c.1716C>T	NP_078872.2:p.Asn572=	NC_000008.10:g.6302959C>T	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.1742A>G (p.Glu581Gly)	79648	MCPH1	Uncertain significance	35402812	RCV000146281;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6302985	6302985	NM_024596.4:c.1742A>G	NP_078872.2:p.Glu581Gly	NC_000008.10:g.6302985A>G	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.1806A>C (p.Leu602Phe)	79648	MCPH1	Uncertain significance	34418490	RCV000146283;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6303049	6303049	NM_024596.4:c.1806A>C	NP_078872.2:p.Leu602Phe	NC_000008.10:g.6303049A>C	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.1869_1870delAT (p.Cys624Terfs)	79648	MCPH1	Pathogenic	587783735	RCV000146285;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6312707	6312708	NM_024596.4:c.1869_1870delAT	NP_078872.2:p.Cys624Terfs	NC_000008.10:g.6312707_6312708delAT	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.1936-10A>G	79648	MCPH1	Uncertain significance	587783736	RCV000146286;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6335105	6335105	NM_024596.4:c.1936-10A>G		NC_000008.10:g.6335105A>G	-	C1855081 251200 Primary autosomal recessive microcephaly 1
NM_024596.4(MCPH1):c.1951G>A (p.Val651Ile)	79648	MCPH1	Uncertain significance	138218829	RCV000146288;	N	MedGen:C1855081,OMIM:251200,ORPHA:52183	8	6335130	6335130	NM_024596.4:c.1951G>A	NP_078872.2:p.Val651Ile	NC_000008.10:g.6335130G>A	-	C1855081 251200 Primary autosomal recessive microcephaly 1