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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, 3 (C565746)
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:

7188

Name:

Microcephaly, Primary Autosomal Recessive, 3

Definition:

Alternative IDs:

OMIM:604804

ParentIDs:

MESH:D008831

TreeNumbers:

C05.660.207.620/C565746 |C10.500.507.400.500/C565746 |C16.131.621.207.620/C565746 |C16.131.666.507.400.500/C565746

Synonyms:

MCPH3 |MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE

Slim Mappings:

Congenital abnormality|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C565746
MeSH: C565746
OMIM: 604804;

Genes: CDK5RAP2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001263	Global developmental delay
3	HP:0002342	Intellectual disability, moderate
4	HP:0000252	Microcephaly
5	HP:0000520	Proptosis	HP:0040283
6	HP:0000407	Sensorineural hearing impairment	HP:0040283
7	HP:0009879	Simplified gyral pattern	HP:0040283
8	HP:0000340	Sloping forehead
9	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
NM_018249.5(CDK5RAP2):c.5448G>A (p.Glu1816=)	55755	CDK5RAP2	Uncertain significance	587783396	RCV000145499;	N	MedGen:C1858108,OMIM:604804	9	123163023	123163023	NM_018249.5:c.5448G>A	NP_060719.4:p.Glu1816=	NC_000009.11:g.123163023C>T	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.5413C>T (p.Leu1805Phe)	55755	CDK5RAP2	Uncertain significance	545543130	RCV000145497;	N	MedGen:C1858108,OMIM:604804	9	123163058	123163058	NM_018249.5:c.5413C>T	NP_060719.4:p.Leu1805Phe	NC_000009.11:g.123163058G>A	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.5359A>C (p.Lys1787Gln)	55755	CDK5RAP2	Uncertain significance	587783395	RCV000145496;	N	MedGen:C1858108,OMIM:604804	9	123163112	123163112	NM_018249.5:c.5359A>C	NP_060719.4:p.Lys1787Gln	NC_000009.11:g.123163112T>G	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.5227C>T (p.Gln1743Ter)	55755	CDK5RAP2	Pathogenic	587783392	RCV000145493;	N	MedGen:C1858108,OMIM:604804	9	123165164	123165164	NM_018249.5:c.5227C>T	NP_060719.4:p.Gln1743Ter	NC_000009.11:g.123165164G>A	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.5152C>G (p.Leu1718Val)	55755	CDK5RAP2	Uncertain significance	141004029	RCV000145492;	N	MedGen:C1858108,OMIM:604804	9	123165239	123165239	NM_018249.5:c.5152C>G	NP_060719.4:p.Leu1718Val	NC_000009.11:g.123165239G>C	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.4822A>G (p.Ser1608Gly)	55755	CDK5RAP2	Uncertain significance	372057183	RCV000145491;	N	MedGen:C1858108,OMIM:604804	9	123169431	123169431	NM_018249.5:c.4822A>G	NP_060719.4:p.Ser1608Gly	NC_000009.11:g.123169431T>C	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.4672C>T (p.Arg1558Ter)	55755	CDK5RAP2	Pathogenic	373278668	RCV000076924;	N	MedGen:C1858108,OMIM:604804	9	123170679	123170679	NM_018249.5:c.4672C>T	NP_060719.4:p.Arg1558Ter	NC_000009.11:g.123170679G>A	OMIM Allelic Variant:608201.0005	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.4665G>T (p.Gln1555His)	55755	CDK5RAP2	Benign;Uncertain significance	35909061	RCV000020842;	N	MedGen:C1858108,OMIM:604804	9	123170686	123170686	NM_018249.5:c.4665G>T	NP_060719.4:p.Gln1555His	NC_000009.11:g.123170686C>A	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.4618G>C (p.Val1540Leu)	55755	CDK5RAP2	Benign;Likely benign	4837768	RCV000020841; RCV000145488;	N	MedGen:C1858108,OMIM:604804; MedGen:CN169374	9	123170733	123170733	NM_018249.5:c.4618G>C	NP_060719.4:p.Val1540Leu	NC_000009.11:g.123170733C>G	-	CN169374 not specified; C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.4604+1G>C	55755	CDK5RAP2	Pathogenic	869025200	RCV000207398;	N	MedGen:C1858108,OMIM:604804	9	123171404	123171404	NM_018249.5:c.4604+1G>C		NC_000009.11:g.123171404C>G	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.4547A>G (p.Glu1516Gly)	55755	CDK5RAP2	Benign	3210500	RCV000020840;	N	MedGen:C1858108,OMIM:604804	9	123171462	123171462	NM_018249.5:c.4547A>G	NP_060719.4:p.Glu1516Gly	NC_000009.11:g.123171462T>C	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.4546G>T (p.Glu1516Ter)	55755	CDK5RAP2	Pathogenic	374351172	RCV000076923;	N	MedGen:C1858108,OMIM:604804	9	123171463	123171463	NM_018249.5:c.4546G>T	NP_060719.4:p.Glu1516Ter	NC_000009.11:g.123171463C>A	OMIM Allelic Variant:608201.0004	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.4441C>T (p.Arg1481Ter)	55755	CDK5RAP2	Likely pathogenic;Pathogenic	587783390	RCV000145486;	N	MedGen:C1858108,OMIM:604804	9	123171568	123171568	NM_018249.5:c.4441C>T	NP_060719.4:p.Arg1481Ter	NC_000009.11:g.123171568G>A	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.4425G>T (p.Lys1475Asn)	55755	CDK5RAP2	Uncertain significance	587783389	RCV000145485;	N	MedGen:C1858108,OMIM:604804	9	123171584	123171584	NM_018249.5:c.4425G>T	NP_060719.4:p.Lys1475Asn	NC_000009.11:g.123171584C>A	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.4393A>G (p.Met1465Val)	55755	CDK5RAP2	Uncertain significance	201864352	RCV000145484;	N	MedGen:C1858108,OMIM:604804	9	123173657	123173657	NM_018249.5:c.4393A>G	NP_060719.4:p.Met1465Val	NC_000009.11:g.123173657T>C	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.4338T>A (p.Ser1446Arg)	55755	CDK5RAP2	Uncertain significance	143341041	RCV000145483;	N	MedGen:C1858108,OMIM:604804	9	123173712	123173712	NM_018249.5:c.4338T>A	NP_060719.4:p.Ser1446Arg	NC_000009.11:g.123173712A>T	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.4325C>T (p.Ser1442Leu)	55755	CDK5RAP2	Uncertain significance	376138280	RCV000145482;	N	MedGen:C1858108,OMIM:604804	9	123173725	123173725	NM_018249.5:c.4325C>T	NP_060719.4:p.Ser1442Leu	NC_000009.11:g.123173725G>A	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.4207C>T (p.Arg1403Ter)	55755	CDK5RAP2	Pathogenic	754282058	RCV000194268;	N	MedGen:C1858108,OMIM:604804	9	123177408	123177408	NM_018249.5:c.4207C>T	NP_060719.4:p.Arg1403Ter	NC_000009.11:g.123177408G>A	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.4103C>T (p.Ser1368Phe)	55755	CDK5RAP2	Benign	41309342	RCV000020839;	N	MedGen:C1858108,OMIM:604804	9	123182140	123182140	NM_018249.5:c.4103C>T	NP_060719.4:p.Ser1368Phe	NC_000009.11:g.123182140G>A	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.4055A>G (p.Glu1352Gly)	55755	CDK5RAP2	Uncertain significance	587783388	RCV000145481;	N	MedGen:C1858108,OMIM:604804	9	123182188	123182188	NM_018249.5:c.4055A>G	NP_060719.4:p.Glu1352Gly	NC_000009.11:g.123182188T>C	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.4005-1G>A	55755	CDK5RAP2	Pathogenic	587783387	RCV000145479;	N	MedGen:C1858108,OMIM:604804	9	123182239	123182239	NM_018249.5:c.4005-1G>A		NC_000009.11:g.123182239C>T	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.4005-15A>G	55755	CDK5RAP2	Pathogenic	387906274	RCV000002595;	N	MedGen:C1858108,OMIM:604804	9	123182253	123182253	NM_018249.5:c.4005-15A>G		NC_000009.11:g.123182253T>C	OMIM Allelic Variant:608201.0002	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.3989A>T (p.Asn1330Ile)	55755	CDK5RAP2	Benign	7875294	RCV000020837;	N	MedGen:C1858108,OMIM:604804	9	123184986	123184986	NM_018249.5:c.3989A>T	NP_060719.4:p.Asn1330Ile	NC_000009.11:g.123184986T>A	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.3859G>T (p.Ala1287Ser)	55755	CDK5RAP2	Uncertain significance	587783386	RCV000145478;	N	MedGen:C1858108,OMIM:604804	9	123199669	123199669	NM_018249.5:c.3859G>T	NP_060719.4:p.Ala1287Ser	NC_000009.11:g.123199669C>A	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.3686A>G (p.Asn1229Ser)	55755	CDK5RAP2	Uncertain significance	148403620	RCV000145477;	N	MedGen:C1858108,OMIM:604804	9	123201713	123201713	NM_018249.5:c.3686A>G	NP_060719.4:p.Asn1229Ser	NC_000009.11:g.123201713T>C	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.3679A>T (p.Ile1227Phe)	55755	CDK5RAP2	Uncertain significance	139203975	RCV000145476;	N	MedGen:C1858108,OMIM:604804	9	123201720	123201720	NM_018249.5:c.3679A>T	NP_060719.4:p.Ile1227Phe	NC_000009.11:g.123201720T>A	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.3285G>C (p.Met1095Ile)	55755	CDK5RAP2	Uncertain significance	587783385	RCV000145473;	N	MedGen:C1858108,OMIM:604804	9	123202114	123202114	NM_018249.5:c.3285G>C	NP_060719.4:p.Met1095Ile	NC_000009.11:g.123202114C>G	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.3258T>C (p.Ser1086=)	55755	CDK5RAP2	Uncertain significance	587783384	RCV000145472;	N	MedGen:C1858108,OMIM:604804	9	123202141	123202141	NM_018249.5:c.3258T>C	NP_060719.4:p.Ser1086=	NC_000009.11:g.123202141A>G	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.3134G>C (p.Arg1045Thr)	55755	CDK5RAP2	Benign	3780679	RCV000020836; RCV000145471;	N	MedGen:C1858108,OMIM:604804; MedGen:CN169374	9	123205912	123205912	NM_018249.5:c.3134G>C	NP_060719.4:p.Arg1045Thr	NC_000009.11:g.123205912C>G	-	CN169374 not specified; C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.3097delG (p.Val1033Serfs)	55755	CDK5RAP2	Pathogenic	747831095	RCV000207363;	N	MedGen:C1858108,OMIM:604804	9	123205949	123205949	NM_018249.5:c.3097delG	NP_060719.4:p.Val1033Serfs	NC_000009.11:g.123205949delC	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.3065G>A (p.Gly1022Glu)	55755	CDK5RAP2	Benign	34523498	RCV000020835; RCV000145469;	N	MedGen:C1858108,OMIM:604804; MedGen:CN169374	9	123205981	123205981	NM_018249.5:c.3065G>A	NP_060719.4:p.Gly1022Glu	NC_000009.11:g.123205981C>T	-	CN169374 not specified; C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.3034C>G (p.Pro1012Ala)	55755	CDK5RAP2	Uncertain significance	141496431	RCV000145468;	N	MedGen:C1858108,OMIM:604804	9	123206012	123206012	NM_018249.5:c.3034C>G	NP_060719.4:p.Pro1012Ala	NC_000009.11:g.123206012G>C	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.2644C>G (p.Leu882Val)	55755	CDK5RAP2	Uncertain significance	587783383	RCV000145466;	N	MedGen:C1858108,OMIM:604804	9	123215883	123215883	NM_018249.5:c.2644C>G	NP_060719.4:p.Leu882Val	NC_000009.11:g.123215883G>C	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.2599G>A (p.Gly867Arg)	55755	CDK5RAP2	Benign	10984919	RCV000020834;	N	MedGen:C1858108,OMIM:604804	9	123215928	123215928	NM_018249.5:c.2599G>A	NP_060719.4:p.Gly867Arg	NC_000009.11:g.123215928C>T	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.1712T>C (p.Leu571Pro)	55755	CDK5RAP2	Benign	41296081	RCV000020832; RCV000145462;	N	MedGen:C1858108,OMIM:604804; MedGen:CN169374	9	123239643	123239643	NM_018249.5:c.1712T>C	NP_060719.4:p.Leu571Pro	NC_000009.11:g.123239643A>G	-	CN169374 not specified; C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.1433T>C (p.Val478Ala)	55755	CDK5RAP2	Uncertain significance	587783382	RCV000145460;	N	MedGen:C1858108,OMIM:604804	9	123253634	123253634	NM_018249.5:c.1433T>C	NP_060719.4:p.Val478Ala	NC_000009.11:g.123253634A>G	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.1183C>T (p.His395Tyr)	55755	CDK5RAP2	Uncertain significance	587783380	RCV000145458;	N	MedGen:C1858108,OMIM:604804	9	123280833	123280833	NM_018249.5:c.1183C>T	NP_060719.4:p.His395Tyr	NC_000009.11:g.123280833G>A	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.1018delG (p.Glu340Lysfs)	55755	CDK5RAP2	Pathogenic	797045441	RCV000194025;	N	MedGen:C1858108,OMIM:604804	9	123287338	123287338	NM_018249.5:c.1018delG	NP_060719.4:p.Glu340Lysfs	NC_000009.11:g.123287338delC	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.923C>T (p.Thr308Ile)	55755	CDK5RAP2	Uncertain significance	145272328	RCV000145510;	N	MedGen:C1858108,OMIM:604804	9	123290160	123290160	NM_018249.5:c.923C>T	NP_060719.4:p.Thr308Ile	NC_000009.11:g.123290160G>A	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.865G>C (p.Glu289Gln)	55755	CDK5RAP2	Benign;Likely benign	4836822	RCV000020847; RCV000145507;	N	MedGen:C1858108,OMIM:604804; MedGen:CN169374	9	123291036	123291036	NM_018249.5:c.865G>C	NP_060719.4:p.Glu289Gln	NC_000009.11:g.123291036C>G	-	CN169374 not specified; C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.764C>T (p.Ser255Leu)	55755	CDK5RAP2	Benign;Uncertain significance	35199933	RCV000020846;	N	MedGen:C1858108,OMIM:604804	9	123292317	123292317	NM_018249.5:c.764C>T	NP_060719.4:p.Ser255Leu	NC_000009.11:g.123292317G>A	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.749C>T (p.Pro250Leu)	55755	CDK5RAP2	Uncertain significance	568558844	RCV000145506;	N	MedGen:C1858108,OMIM:604804	9	123292332	123292332	NM_018249.5:c.749C>T	NP_060719.4:p.Pro250Leu	NC_000009.11:g.123292332G>A	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.700G>T (p.Glu234Ter)	55755	CDK5RAP2	Pathogenic	398122971	RCV000076922;	N	MedGen:C1858108,OMIM:604804	9	123292381	123292381	NM_018249.5:c.700G>T	NP_060719.4:p.Glu234Ter	NC_000009.11:g.123292381C>A	OMIM Allelic Variant:608201.0003	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.574C>T (p.Arg192Trp)	55755	CDK5RAP2	Uncertain significance	369568564	RCV000145505;	N	MedGen:C1858108,OMIM:604804	9	123298738	123298738	NM_018249.5:c.574C>T	NP_060719.4:p.Arg192Trp	NC_000009.11:g.123298738G>A	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.569C>T (p.Ala190Val)	55755	CDK5RAP2	Benign	13287876	RCV000020845;	N	MedGen:C1858108,OMIM:604804	9	123298743	123298743	NM_018249.5:c.569C>T	NP_060719.4:p.Ala190Val	NC_000009.11:g.123298743G>A	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.547G>C (p.Ala183Pro)	55755	CDK5RAP2	Benign;Uncertain significance	13287734	RCV000020844;	N	MedGen:C1858108,OMIM:604804	9	123298765	123298765	NM_018249.5:c.547G>C	NP_060719.4:p.Ala183Pro	NC_000009.11:g.123298765C>G	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.546T>G (p.Phe182Leu)	55755	CDK5RAP2	Benign	13287599	RCV000020843;	N	MedGen:C1858108,OMIM:604804	9	123298766	123298766	NM_018249.5:c.546T>G	NP_060719.4:p.Phe182Leu	NC_000009.11:g.123298766A>C	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.533T>C (p.Leu178Pro)	55755	CDK5RAP2	Uncertain significance	587783394	RCV000145495;	N	MedGen:C1858108,OMIM:604804	9	123298779	123298779	NM_018249.5:c.533T>C	NP_060719.4:p.Leu178Pro	NC_000009.11:g.123298779A>G	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.524_528delAGGCA (p.Gln175Argfs)	55755	CDK5RAP2	Pathogenic	587783393	RCV000145494;	N	MedGen:C1858108,OMIM:604804	9	123298784	123298788	NM_018249.5:c.524_528delAGGCA	NP_060719.4:p.Gln175Argfs	NC_000009.11:g.123298784_123298788delTGCCT	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.409G>T (p.Ala137Ser)	55755	CDK5RAP2	Benign	41302645	RCV000020838;	N	MedGen:C1858108,OMIM:604804	9	123301417	123301417	NM_018249.5:c.409G>T	NP_060719.4:p.Ala137Ser	NC_000009.11:g.123301417C>A	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.246T>A (p.Tyr82Ter)	55755	CDK5RAP2	Pathogenic	199422126	RCV000020833;	N	MedGen:C1858108,OMIM:604804	9	123313130	123313130	NM_018249.5:c.246T>A	NP_060719.4:p.Tyr82Ter	NC_000009.11:g.123313130A>T	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.91G>A (p.Asp31Asn)	55755	CDK5RAP2	Benign	58961732	RCV000020848;	N	MedGen:C1858108,OMIM:604804	9	123334288	123334288	NM_018249.5:c.91G>A	NP_060719.4:p.Asp31Asn	NC_000009.11:g.123334288C>T	-	C1858108 604804 Primary autosomal recessive microcephaly 3
NM_018249.5(CDK5RAP2):c.34G>C (p.Val12Leu)	55755	CDK5RAP2	Uncertain significance	146839668	RCV000145474;	N	MedGen:C1858108,OMIM:604804	9	123342223	123342223	NM_018249.5:c.34G>C	NP_060719.4:p.Val12Leu	NC_000009.11:g.123342223C>G	-	C1858108 604804 Primary autosomal recessive microcephaly 3