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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, 2 (C565794)
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:

7187

Name:

Microcephaly, Primary Autosomal Recessive, 2

Definition:

Alternative IDs:

OMIM:604317

ParentIDs:

MESH:D008831

TreeNumbers:

C05.660.207.620/C565794 |C10.500.507.400.500/C565794 |C16.131.621.207.620/C565794 |C16.131.666.507.400.500/C565794

Synonyms:

MCPH2 |MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS

Slim Mappings:

Congenital abnormality|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C565794
MeSH: C565794
OMIM: 604317;

Genes: WDR62;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0000718	Aggressive behavior
4	HP:0001558	Decreased fetal movement
5	HP:0000750	Delayed speech and language development
6	HP:0001263	Global developmental delay
7	HP:0002282	Gray matter heterotopia
8	HP:0001269	Hemiparesis
9	HP:0000752	Hyperactivity
10	HP:0001347	Hyperreflexia
11	HP:0002079	Hypoplasia of the corpus callosum
12	HP:0100710	Impulsivity
13	HP:0001249	Intellectual disability
14	HP:0000252	Microcephaly
15	HP:0001302	Pachygyria
16	HP:0002126	Polymicrogyria
17	HP:0010636	Schizencephaly
18	HP:0001250	Seizure	HP:0040282
19	HP:0009879	Simplified gyral pattern
20	HP:0000340	Sloping forehead
21	HP:0001285	Spastic tetraparesis

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_001083961.1(WDR62):c.32G>C (p.Arg11Pro)	284403	WDR62	Uncertain significance	587784552	RCV000147950;	N	MedGen:C1858535,OMIM:604317	19	36545905	36545905	NM_001083961.1:c.32G>C	NP_001077430.1:p.Arg11Pro	NC_000019.9:g.36545905G>C	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.82C>G (p.Arg28Gly)	284403	WDR62	Uncertain significance	200283315	RCV000147979;	N	MedGen:C1858535,OMIM:604317	19	36545955	36545955	NM_001083961.1:c.82C>G	NP_001077430.1:p.Arg28Gly	NC_000019.9:g.36545955C>G	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.193G>A (p.Val65Met)	284403	WDR62	Pathogenic	387907084	RCV000024034;	N	MedGen:C1858535,OMIM:604317	19	36549697	36549697	NM_001083961.1:c.193G>A	NP_001077430.1:p.Val65Met	NC_000019.9:g.36549697G>A	OMIM Allelic Variant:613583.0011	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.332+1G>A	284403	WDR62	Pathogenic	587784553	RCV000147952;	N	MedGen:C1858535,OMIM:604317	19	36550933	36550933	NM_001083961.1:c.332+1G>A		NC_000019.9:g.36550933G>A	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.359C>A (p.Ser120Tyr)	284403	WDR62	Likely pathogenic	587784558	RCV000147962;	N	MedGen:C1858535,OMIM:604317	19	36556886	36556886	NM_001083961.1:c.359C>A	NP_001077430.1:p.Ser120Tyr	NC_000019.9:g.36556886C>A	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.363delT (p.Asp122Metfs)	284403	WDR62	Pathogenic	587776901	RCV000024033;	N	MedGen:C1858535,OMIM:604317	19	36556890	36556890	NM_001083961.1:c.363delT	NP_001077430.1:p.Asp122Metfs	NC_000019.9:g.36556890delT	OMIM Allelic Variant:613583.0010	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.589G>A (p.Val197Ile)	284403	WDR62	Uncertain significance	535488873	RCV000147977;	N	MedGen:C1858535,OMIM:604317	19	36558235	36558235	NM_001083961.1:c.589G>A	NP_001077430.1:p.Val197Ile	NC_000019.9:g.36558235G>A	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.671G>C (p.Trp224Ser)	284403	WDR62	Pathogenic	267607176	RCV000000059;	N	MedGen:C1858535,OMIM:604317	19	36558317	36558317	NM_001083961.1:c.671G>C	NP_001077430.1:p.Trp224Ser	NC_000019.9:g.36558317G>C	OMIM Allelic Variant:613583.0003	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.964G>C (p.Ala322Pro)	284403	WDR62	Uncertain significance	587784561	RCV000147981;	N	MedGen:C1858535,OMIM:604317	19	36562539	36562539	NM_001083961.1:c.964G>C	NP_001077430.1:p.Ala322Pro	NC_000019.9:g.36562539G>C	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.1043+3A>G	284403	WDR62	Uncertain significance	587784541	RCV000147909;	N	MedGen:C1858535,OMIM:604317	19	36562621	36562621	NM_001083961.1:c.1043+3A>G		NC_000019.9:g.36562621A>G	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.1312C>T (p.Arg438Cys)	284403	WDR62	Likely pathogenic	587784542	RCV000147912;	N	MedGen:C1858535,OMIM:604317	19	36572413	36572413	NM_001083961.1:c.1312C>T	NP_001077430.1:p.Arg438Cys	NC_000019.9:g.36572413C>T	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.1313G>A (p.Arg438His)	284403	WDR62	Pathogenic	387907082	RCV000024029;	N	MedGen:C1858535,OMIM:604317	19	36572414	36572414	NM_001083961.1:c.1313G>A	NP_001077430.1:p.Arg438His	NC_000019.9:g.36572414G>A	OMIM Allelic Variant:613583.0006	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.1408C>T (p.Gln470Ter)	284403	WDR62	Pathogenic	267607177	RCV000000060;	N	MedGen:C1858535,OMIM:604317	19	36574001	36574001	NM_001083961.1:c.1408C>T	NP_001077430.1:p.Gln470Ter	NC_000019.9:g.36574001C>T	OMIM Allelic Variant:613583.0004	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.1480G>A (p.Gly494Arg)	284403	WDR62	Likely pathogenic	587784543	RCV000147915;	N	MedGen:C1858535,OMIM:604317	19	36574073	36574073	NM_001083961.1:c.1480G>A	NP_001077430.1:p.Gly494Arg	NC_000019.9:g.36574073G>A	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.1486C>T (p.Arg496Trp)	284403	WDR62	Uncertain significance	587784544	RCV000147916;	N	MedGen:C1858535,OMIM:604317	19	36574079	36574079	NM_001083961.1:c.1486C>T	NP_001077430.1:p.Arg496Trp	NC_000019.9:g.36574079C>T	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.1531G>A (p.Asp511Asn)	284403	WDR62	Pathogenic	387907083	RCV000024031;	N	MedGen:C1858535,OMIM:604317	19	36574124	36574124	NM_001083961.1:c.1531G>A	NP_001077430.1:p.Asp511Asn	NC_000019.9:g.36574124G>A	OMIM Allelic Variant:613583.0008	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.1534C>G (p.Arg512Gly)	284403	WDR62	Uncertain significance	201993064	RCV000147917;	N	MedGen:C1858535,OMIM:604317	19	36574127	36574127	NM_001083961.1:c.1534C>G	NP_001077430.1:p.Arg512Gly	NC_000019.9:g.36574127C>G	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.1576G>A (p.Glu526Lys)	284403	WDR62	Pathogenic;Uncertain significance	147875659	RCV000000058; RCV000174280;	N	MedGen:C1858535,OMIM:604317; MedGen:CN221809	19	36575580	36575580	NM_001083961.1:c.1576G>A	NP_001077430.1:p.Glu526Lys	NC_000019.9:g.36575580G>A	OMIM Allelic Variant:613583.0002	CN221809 not provided; C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.1681A>T (p.Ile561Phe)	284403	WDR62	Uncertain significance	587784545	RCV000147922;	N	MedGen:C1858535,OMIM:604317	19	36577627	36577627	NM_001083961.1:c.1681A>T	NP_001077430.1:p.Ile561Phe	NC_000019.9:g.36577627A>T	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.1750A>C (p.Thr584Pro)	284403	WDR62	Uncertain significance	76456648	RCV000147923;	N	MedGen:C1858535,OMIM:604317	19	36577696	36577696	NM_001083961.1:c.1750A>C	NP_001077430.1:p.Thr584Pro	NC_000019.9:g.36577696A>C	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.2084_2090dupAAAGCAT (p.Ser698Lysfs)	284403	WDR62	Pathogenic	587784546	RCV000147928;	N	MedGen:C1858535,OMIM:604317	19	36582151	36582157	NM_001083961.1:c.2084_2090dupAAAGCAT	NP_001077430.1:p.Ser698Lysfs	NC_000019.9:g.36582151_36582157dupAAAGCAT	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_173636.4(WDR62):c.2086delA (p.Ser696Alafs)	284403	WDR62	Pathogenic	863223322	RCV000024035;	N	MedGen:C1858535,OMIM:604317	19	36582153	36582153	NM_173636.4:c.2086delA	NP_775907.4:p.Ser696Alafs	NC_000019.9:g.36582153delA	OMIM Allelic Variant:613583.0012	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.2490C>T (p.Asn830=)	284403	WDR62	Uncertain significance	587784547	RCV000147936;	N	MedGen:C1858535,OMIM:604317	19	36587951	36587951	NM_001083961.1:c.2490C>T	NP_001077430.1:p.Asn830=	NC_000019.9:g.36587951C>T	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.2529C>T (p.Asp843=)	284403	WDR62	Uncertain significance	144697999	RCV000147937;	N	MedGen:C1858535,OMIM:604317	19	36590309	36590309	NM_001083961.1:c.2529C>T	NP_001077430.1:p.Asp843=	NC_000019.9:g.36590309C>T	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.2566C>T (p.Arg856Cys)	284403	WDR62	Uncertain significance	370558837	RCV000147939;	N	MedGen:C1858535,OMIM:604317	19	36590346	36590346	NM_001083961.1:c.2566C>T	NP_001077430.1:p.Arg856Cys	NC_000019.9:g.36590346C>T	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.2584G>T (p.Gly862Cys)	284403	WDR62	Uncertain significance	587784548	RCV000147940;	N	MedGen:C1858535,OMIM:604317	19	36590364	36590364	NM_001083961.1:c.2584G>T	NP_001077430.1:p.Gly862Cys	NC_000019.9:g.36590364G>T	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.2655C>G (p.Tyr885Ter)	284403	WDR62	Pathogenic	587784549	RCV000147941;	N	MedGen:C1858535,OMIM:604317	19	36590435	36590435	NM_001083961.1:c.2655C>G	NP_001077430.1:p.Tyr885Ter	NC_000019.9:g.36590435C>G	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_173636.4(WDR62):c.2746_2747delAG (p.Gln918Glyfs)	284403	WDR62	Pathogenic	863223323	RCV000024036;	N	MedGen:C1858535,OMIM:604317	19	36591656	36591657	NM_173636.4:c.2746_2747delAG	NP_775907.4:p.Gln918Glyfs	NC_000019.9:g.36591656_36591657delAG	OMIM Allelic Variant:613583.0013	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.2782C>T (p.Leu928=)	284403	WDR62	Uncertain significance	12610991	RCV000147942;	N	MedGen:C1858535,OMIM:604317	19	36591692	36591692	NM_001083961.1:c.2782C>T	NP_001077430.1:p.Leu928=	NC_000019.9:g.36591692C>T	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.2896G>A (p.Gly966Arg)	284403	WDR62	Uncertain significance	587784550	RCV000147943;	N	MedGen:C1858535,OMIM:604317	19	36592144	36592144	NM_001083961.1:c.2896G>A	NP_001077430.1:p.Gly966Arg	NC_000019.9:g.36592144G>A	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.2945G>A (p.Ser982Asn)	284403	WDR62	Uncertain significance	11540047	RCV000147944;	N	MedGen:C1858535,OMIM:604317	19	36592193	36592193	NM_001083961.1:c.2945G>A	NP_001077430.1:p.Ser982Asn	NC_000019.9:g.36592193G>A	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.3066G>A (p.Ser1022=)	284403	WDR62	Uncertain significance	3746269	RCV000147949;	N	MedGen:C1858535,OMIM:604317	19	36592660	36592660	NM_001083961.1:c.3066G>A	NP_001077430.1:p.Ser1022=	NC_000019.9:g.36592660G>A	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.3335+3A>G	284403	WDR62	Likely pathogenic	587784554	RCV000147953;	N	MedGen:C1858535,OMIM:604317	19	36593756	36593756	NM_001083961.1:c.3335+3A>G		NC_000019.9:g.36593756A>G	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.3336-5C>G	284403	WDR62	Uncertain significance	587784555	RCV000147954;	N	MedGen:C1858535,OMIM:604317	19	36593845	36593845	NM_001083961.1:c.3336-5C>G		NC_000019.9:g.36593845C>G	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.3348delC (p.Phe1117Serfs)	284403	WDR62	Likely pathogenic	797046109	RCV000194814;	N	MedGen:C1858535,OMIM:604317	19	36593862	36593862	NM_001083961.1:c.3348delC	NP_001077430.1:p.Phe1117Serfs	NC_000019.9:g.36593862delC	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.3406C>G (p.Arg1136Gly)	284403	WDR62	Uncertain significance	587784556	RCV000147956;	N	MedGen:C1858535,OMIM:604317	19	36593920	36593920	NM_001083961.1:c.3406C>G	NP_001077430.1:p.Arg1136Gly	NC_000019.9:g.36593920C>G	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.3515-7G>A	284403	WDR62	Uncertain significance	368668756	RCV000147959;	N	MedGen:C1858535,OMIM:604317	19	36594238	36594238	NM_001083961.1:c.3515-7G>A		NC_000019.9:g.36594238G>A	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.3559G>A (p.Val1187Met)	284403	WDR62	Uncertain significance	587784557	RCV000147960;	N	MedGen:C1858535,OMIM:604317	19	36594289	36594289	NM_001083961.1:c.3559G>A	NP_001077430.1:p.Val1187Met	NC_000019.9:g.36594289G>A	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.3573C>T (p.Asp1191=)	284403	WDR62	Uncertain significance	1054040	RCV000147961;	N	MedGen:C1858535,OMIM:604317	19	36594303	36594303	NM_001083961.1:c.3573C>T	NP_001077430.1:p.Asp1191=	NC_000019.9:g.36594303C>T	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.3611G>T (p.Gly1204Val)	284403	WDR62	Uncertain significance	587784559	RCV000147963;	N	MedGen:C1858535,OMIM:604317	19	36594341	36594341	NM_001083961.1:c.3611G>T	NP_001077430.1:p.Gly1204Val	NC_000019.9:g.36594341G>T	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.3698C>G (p.Ser1233Cys)	284403	WDR62	Uncertain significance	587784560	RCV000147966;	N	MedGen:C1858535,OMIM:604317	19	36594428	36594428	NM_001083961.1:c.3698C>G	NP_001077430.1:p.Ser1233Cys	NC_000019.9:g.36594428C>G	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.3839_3855del17 (p.Gly1280Alafs)	284403	WDR62	Pathogenic	397704725	RCV000000061;	N	MedGen:C1858535,OMIM:604317	19	36594569	36594585	NM_001083961.1:c.3839_3855del17	NP_001077430.1:p.Gly1280Alafs	NC_000019.9:g.36594569_36594585del17	OMIM Allelic Variant:613583.0005	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.3936dupC (p.Val1313Argfs)	284403	WDR62	Pathogenic	587776900	RCV000024032;	N	MedGen:C1858535,OMIM:604317	19	36594666	36594666	NM_001083961.1:c.3936dupC	NP_001077430.1:p.Val1313Argfs		OMIM Allelic Variant:613583.0009	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.3948G>A (p.Gln1316=)	284403	WDR62	Uncertain significance	4375791	RCV000147968;	N	MedGen:C1858535,OMIM:604317	19	36594678	36594678	NM_001083961.1:c.3948G>A	NP_001077430.1:p.Gln1316=	NC_000019.9:g.36594678G>A	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.4159C>A (p.Leu1387Ile)	284403	WDR62	Uncertain significance	147652186	RCV000147971; RCV000177523;	N	MedGen:C1858535,OMIM:604317; MedGen:CN221809	19	36595425	36595425	NM_001083961.1:c.4159C>A	NP_001077430.1:p.Leu1387Ile	NC_000019.9:g.36595425C>A	-	CN221809 not provided; C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.4205_4208delTGCC (p.Val1402Glyfs)	284403	WDR62	Pathogenic	397704721	RCV000000057;	N	MedGen:C1858535,OMIM:604317	19	36595471	36595474	NM_001083961.1:c.4205_4208delTGCC	NP_001077430.1:p.Val1402Glyfs	NC_000019.9:g.36595471_36595474delTGCC	OMIM Allelic Variant:613583.0001	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.4241dupT (p.Ser1415Glufs)	284403	WDR62	Pathogenic	587776899	RCV000024030;	N	MedGen:C1858535,OMIM:604317	19	36595507	36595507	NM_001083961.1:c.4241dupT	NP_001077430.1:p.Ser1415Glufs		OMIM Allelic Variant:613583.0007	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.4381T>G (p.Trp1461Gly)	284403	WDR62	Uncertain significance	61734910	RCV000147974;	N	MedGen:C1858535,OMIM:604317	19	36595739	36595739	NM_001083961.1:c.4381T>G	NP_001077430.1:p.Trp1461Gly	NC_000019.9:g.36595739T>G	-	C1858535 604317 Primary autosomal recessive microcephaly 2
NM_001083961.1(WDR62):c.*5G>A	284403	WDR62	Benign;Uncertain significance	61740165	RCV000147908; RCV000154148;	N	MedGen:C1858535,OMIM:604317; MedGen:CN169374	19	36595935	36595935	NM_001083961.1:c.*5G>A		NC_000019.9:g.36595935G>A	-	CN169374 not specified; C1858535 604317 Primary autosomal recessive microcephaly 2