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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: Choroid Diseases (D015862)
Parent Node: Eye Diseases, Hereditary (D015785)
..Starting node ..Gyrate Atrophy (D015799)
Child Nodes:
........Moloney syndrome (C535810)
Sister Nodes:
..Achromatopsia 4 (C564206)
..Achromatopsia 5 (C567759)
..Acrootoocular Syndrome (C564866)
..Aicardi Syndrome (D058540) 1
..Alacrima (C562827)
..Alacrima, Congenital (C566307)
..Albinism (D000417) 30
..Aniridia (D015783) 10
..Ataxia-Microcephaly-Cataract Syndrome (C563086)
..Basal Laminar Drusen (C563034)
..Bestrophinopathy (C567518)
..Bothnia Retinal Dystrophy (C564392)
..Cataract, Congenital Nuclear, Autosomal Recessive 1 (C563728)
..Cataract, Congenital Nuclear, Autosomal Recessive 2 (C565725)
..Cataract, Congenital Nuclear, Autosomal Recessive 3 (C566923)
..Cataract, Floriform (C566160)
..Cataract, Pulverulent (C563426)
..Cavitary Optic Disc Anomalies (C566924)
..Cholestasis with Gallstone, Ataxia, and Visual Disturbance (C565856)
..Choroideremia (D015794) 2
..Congenital Fibrosis of the Extraocular Muscles (C580012)
..Cornea Plana 1 (C565158)
..Cornea Plana 2 (C565677)
..Corneal Dystrophies, Hereditary (D003317) 61
..CSNB1C (C567704)
..Drusen, Radial, Autosomal Dominant (C565088)
..Duane Retraction Syndrome (D004370) 2
..Enhanced S-Cone Syndrome (C564835)
..Fibrosis Of Extraocular Muscles, Congenital, 2 (C566587)
..Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement (C567572)
..Fibrosis of Extraocular Muscles, Congenital, 3B (C567739)
..Fibrosis of Extraocular Muscles, Congenital, 3C (C567666)
..Fleck Retina, Familial Benign (C565564)
..Foveal Hypoplasia with Anterior Segment Anomalies (C565006)
..Foveal Hypoplasia, Isolated (C565005)
..Graves Ophthalmopathy (D049970)
..Grouped Pigmentation of the Macula (C565530)
..Gyrate Atrophy (D015799) 1
..Histiocytic Dermatoarthritis (C564183)
..Hyperopia, High (C565497)
..Hypomagnesemia 5, Renal, with Ocular Involvement (C565423)
..Iris Pigment Epithelium Anomalies (C566651)
..Joubert Syndrome 8 (C567358)
..Leber Congenital Amaurosis (D057130) 20
..Macular Dystrophy, X-Linked (C564110)
..Megalocornea (C562829)
..Microcephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..Mydriasis, Congenital (C563221)
..Night blindness, congenital stationary (C536122) 4
..Night Blindness, Congenital Stationary, Autosomal Dominant 1 (C566474)
..Night Blindness, Congenital Stationary, Autosomal Dominant 2 (C566869)
..Night Blindness, Congenital Stationary, Autosomal Dominant 3 (C566475)
..Omphalocele, Diaphragmatic Hernia, And Radial Ray Defects (C563701)
..Ophthalmomandibulomelic Dysplasia (C563501)
..Optic Atrophies, Hereditary (D015418) 30
..Peripapillary Atrophy, Beta Type (C566898)
..Persistent Hyperplastic Primary Vitreous, Autosomal Recessive (C566966)
..Pigmented Paravenous Chorioretinal Atrophy (C566801)
..Prolonged Electroretinal Response Suppression (C564243)
..Pseudoglaucoma (C566748)
..Pseudopapilledema (C562401)
..Retinal Aplasia (C566720)
..Retinal Dysplasia (D015792) 2
..Retinal Dystrophy, Early Onset Severe (C565741)
..Retinitis Pigmentosa (D012174) 132
..Retinohepatoendocrinologic Syndrome (C564839)
..Rhegmatogenous Retinal Detachment, Autosomal Dominant (C563710)
..Spondyloocular Syndrome, Autosomal Recessive (C565285)
..Stickler Syndrome, Type I, Nonsyndromic Ocular (C563709)
..Vascular Hyalinosis (C564750)
..Vitelliform Macular Dystrophy (D057826) 2
..Vitreoretinochoroidopathy (C536352)
..Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
..Walker-Warburg Syndrome (D058494) 7
..Weill-Marchesani Syndrome (D056846)
..Weill-Marchesani-Like Syndrome (C567710)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4851

Name:

Gyrate Atrophy

Definition:

Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood.

Alternative IDs:

OMIM:258870

ParentIDs:

MESH:D015785|MESH:D015862

TreeNumbers:

C11.270.468 |C11.941.160.578 |C16.320.290.468

Synonyms:

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: D015799
MeSH: D015799
OMIM: 258870;

Genes: OAT;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001939	Abnormality of metabolism/homeostasis
3	HP:0000618	Blindness
4	HP:0000533	Chorioretinal atrophy
5	HP:0003457	EMG abnormality
6	HP:0000545	Myopia
7	HP:0000662	Nyctalopia
8	HP:0007787	Posterior subcapsular cataract
9	HP:0003701	Proximal muscle weakness

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_000274.3(OAT):c.1311G>T (p.Leu437Phe)	4942	OAT	Likely pathogenic	1800456	RCV000049525;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126086520	126086520	NM_000274.3:c.1311G>T	NP_000265.1:p.Leu437Phe	NC_000010.10:g.126086520C>A,NC_000010.10:g.126086520C>G	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.1307T>A (p.Ile436Asn)	4942	OAT	Likely pathogenic	386833598	RCV000049524;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126086524	126086524	NM_000274.3:c.1307T>A	NP_000265.1:p.Ile436Asn	NC_000010.10:g.126086524A>T	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.1276C>T (p.Arg426Ter)	4942	OAT	Pathogenic	121965058	RCV000000200;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126086555	126086555	NM_000274.3:c.1276C>T	NP_000265.1:p.Arg426Ter	NC_000010.10:g.126086555G>A	OMIM Allelic Variant:613349.0034	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.1250C>T (p.Pro417Leu)	4942	OAT	Likely pathogenic;Pathogenic	121965044	RCV000000180;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126086581	126086581	NM_000274.3:c.1250C>T	NP_000265.1:p.Pro417Leu	NC_000010.10:g.126086581G>A	OMIM Allelic Variant:613349.0012	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.1205T>C (p.Leu402Pro)	4942	OAT	Pathogenic	121965043	RCV000000179;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126086626	126086626	NM_000274.3:c.1205T>C	NP_000265.1:p.Leu402Pro	NC_000010.10:g.126086626A>G	OMIM Allelic Variant:613349.0011	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.1201G>T (p.Gly401Ter)	4942	OAT	Pathogenic	121965055	RCV000000196;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126086630	126086630	NM_000274.3:c.1201G>T	NP_000265.1:p.Gly401Ter	NC_000010.10:g.126086630C>A	OMIM Allelic Variant:613349.0030	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.1186C>T (p.Arg396Ter)	4942	OAT	Pathogenic	121965036	RCV000000172;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126086645	126086645	NM_000274.3:c.1186C>T	NP_000265.1:p.Arg396Ter	NC_000010.10:g.126086645G>A	OMIM Allelic Variant:613349.0004	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.1181G>A (p.Cys394Tyr)	4942	OAT	Likely pathogenic	386833597	RCV000049523;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126086650	126086650	NM_000274.3:c.1181G>A	NP_000265.1:p.Cys394Tyr	NC_000010.10:g.126086650C>T	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.1180T>C (p.Cys394Arg)	4942	OAT	Pathogenic	121965054	RCV000000195;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126086651	126086651	NM_000274.3:c.1180T>C	NP_000265.1:p.Cys394Arg	NC_000010.10:g.126086651A>G	OMIM Allelic Variant:613349.0029	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.1172G>A (p.Trp391Ter)	4942	OAT	Likely pathogenic;Pathogenic	386833596	RCV000000194;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126086659	126086659	NM_000274.3:c.1172G>A	NP_000265.1:p.Trp391Ter	NC_000010.10:g.126086659C>T	OMIM Allelic Variant:613349.0028	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.1124G>C (p.Gly375Ala)	4942	OAT	Pathogenic	121965045	RCV000000182;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126089444	126089444	NM_000274.3:c.1124G>C	NP_000265.1:p.Gly375Ala	NC_000010.10:g.126089444C>G	OMIM Allelic Variant:613349.0014	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.1118G>A (p.Gly373Glu)	4942	OAT	Likely pathogenic	386833595	RCV000049521;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126089450	126089450	NM_000274.3:c.1118G>A	NP_000265.1:p.Gly373Glu	NC_000010.10:g.126089450C>T	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.1058G>A (p.Gly353Asp)	4942	OAT	Pathogenic	121965053	RCV000000193;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126089510	126089510	NM_000274.3:c.1058G>A	NP_000265.1:p.Gly353Asp	NC_000010.10:g.126089510C>T	OMIM Allelic Variant:613349.0027	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.1031delA (p.Asn344Thrfs)	4942	OAT	Likely pathogenic	386833594	RCV000049520;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126089537	126089537	NM_000274.3:c.1031delA	NP_000265.1:p.Asn344Thrfs	NC_000010.10:g.126089537delT	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.994G>A (p.Val332Met)	4942	OAT	Likely pathogenic;Pathogenic	121965047	RCV000049551; RCV000000185;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004; MedGen:CN068398	10	126090315	126090315	NM_000274.3:c.994G>A	NP_000265.1:p.Val332Met	NC_000010.10:g.126090315C>T	OMIM Allelic Variant:613349.0018	CN068398 Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia; C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.991C>T (p.Arg331Ter)	4942	OAT	Likely pathogenic	386833623	RCV000049550;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126090318	126090318	NM_000274.3:c.991C>T	NP_000265.1:p.Arg331Ter	NC_000010.10:g.126090318G>A	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.978T>A (p.Asn326Lys)	4942	OAT	Likely pathogenic	386833622	RCV000049549;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126090331	126090331	NM_000274.3:c.978T>A	NP_000265.1:p.Asn326Lys	NC_000010.10:g.126090331A>T	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.955C>T (p.His319Tyr)	4942	OAT	Pathogenic	121965049	RCV000000187;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126090354	126090354	NM_000274.3:c.955C>T	NP_000265.1:p.His319Tyr	NC_000010.10:g.126090354G>A	OMIM Allelic Variant:613349.0020	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.952G>A (p.Glu318Lys)	4942	OAT	Likely pathogenic	386833621	RCV000049547;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126090357	126090357	NM_000274.3:c.952G>A	NP_000265.1:p.Glu318Lys	NC_000010.10:g.126090357C>T	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.952delG (p.Glu318Serfs)	4942	OAT	Likely pathogenic	386833620	RCV000049548;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126090357	126090357	NM_000274.3:c.952delG	NP_000265.1:p.Glu318Serfs	NC_000010.10:g.126090357delC	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.901-2A>G	4942	OAT	Likely pathogenic	386833619	RCV000049546;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126090410	126090410	NM_000274.3:c.901-2A>G		NC_000010.10:g.126090410T>C	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.897C>G (p.Tyr299Ter)	4942	OAT	Pathogenic	121965057	RCV000000199;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126091499	126091499	NM_000274.3:c.897C>G	NP_000265.1:p.Tyr299Ter	NC_000010.10:g.126091499G>C	OMIM Allelic Variant:613349.0033	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.824G>A (p.Trp275Ter)	4942	OAT	Pathogenic	267606924	RCV000000203;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126091572	126091572	NM_000274.3:c.824G>A	NP_000265.1:p.Trp275Ter	NC_000010.10:g.126091572C>T	OMIM Allelic Variant:613349.0037	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.812G>A (p.Arg271Lys)	4942	OAT	Pathogenic	121965042	RCV000000178;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126091584	126091584	NM_000274.3:c.812G>A	NP_000265.1:p.Arg271Lys	NC_000010.10:g.126091584C>T	OMIM Allelic Variant:613349.0010	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.808G>C (p.Ala270Pro)	4942	OAT	Pathogenic	121965041	RCV000000177;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126091588	126091588	NM_000274.3:c.808G>C	NP_000265.1:p.Ala270Pro	NC_000010.10:g.126091588C>G	OMIM Allelic Variant:613349.0009	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.800C>T (p.Thr267Ile)	4942	OAT	Likely pathogenic	386833618	RCV000049545;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126091596	126091596	NM_000274.3:c.800C>T	NP_000265.1:p.Thr267Ile	NC_000010.10:g.126091596G>A	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.749G>C (p.Arg250Pro)	4942	OAT	Pathogenic	121965052	RCV000000192;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126092389	126092389	NM_000274.3:c.749G>C	NP_000265.1:p.Arg250Pro	NC_000010.10:g.126092389C>G	OMIM Allelic Variant:613349.0026	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.748C>T (p.Arg250Ter)	4942	OAT	Likely pathogenic	386833617	RCV000049544;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126092390	126092390	NM_000274.3:c.748C>T	NP_000265.1:p.Arg250Ter	NC_000010.10:g.126092390G>A	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.734A>G (p.Tyr245Cys)	4942	OAT	Pathogenic	121965046	RCV000000183;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126092404	126092404	NM_000274.3:c.734A>G	NP_000265.1:p.Tyr245Cys	NC_000010.10:g.126092404T>C	OMIM Allelic Variant:613349.0016	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.722C>T (p.Pro241Leu)	4942	OAT	Pathogenic	121965051	RCV000000191;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126092416	126092416	NM_000274.3:c.722C>T	NP_000265.1:p.Pro241Leu	NC_000010.10:g.126092416G>A	OMIM Allelic Variant:613349.0025	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.710G>A (p.Gly237Asp)	4942	OAT	Likely pathogenic	386833616	RCV000049543;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126092428	126092428	NM_000274.3:c.710G>A	NP_000265.1:p.Gly237Asp	NC_000010.10:g.126092428C>T	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.698A>G (p.Gln233Arg)	4942	OAT	Likely pathogenic	386833615	RCV000049542;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126092440	126092440	NM_000274.3:c.698A>G	NP_000265.1:p.Gln233Arg	NC_000010.10:g.126092440T>C	-	C0599035 258870 Ornithine aminotransferase deficiency
NG_008861.1:g.(18210_19215)_(19282_19287)del	4942	OAT	Pathogenic	-1	RCV000000197;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126093233	126094310	-	-		OMIM Allelic Variant:613349.0021,OMIM Allelic Variant:613349.0031,dbVar:nssv7487163,dbVar:nsv1197582	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.627T>A (p.Tyr209Ter)	4942	OAT	Pathogenic	121965056	RCV000000198;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126094026	126094026	NM_000274.3:c.627T>A	NP_000265.1:p.Tyr209Ter	NC_000010.10:g.126094026A>T	OMIM Allelic Variant:613349.0032	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.596C>A (p.Pro199Gln)	4942	OAT	Pathogenic	267606925	RCV000000206;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126094057	126094057	NM_000274.3:c.596C>A	NP_000265.1:p.Pro199Gln	NC_000010.10:g.126094057G>T	OMIM Allelic Variant:613349.0040	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.583G>T (p.Asp195Tyr)	4942	OAT	Likely pathogenic	386833614	RCV000049541;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126094070	126094070	NM_000274.3:c.583G>T	NP_000265.1:p.Asp195Tyr	NC_000010.10:g.126094070C>A	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.550_552delGCT (p.Ala184del)	4942	OAT	Pathogenic	121965035	RCV000000171;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126094101	126094103	NM_000274.3:c.550_552delGCT	NP_000265.1:p.Ala184del	NC_000010.10:g.126094101_126094103delAGC	OMIM Allelic Variant:613349.0003	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.550G>A (p.Ala184Thr)	4942	OAT	Pathogenic	121965050	RCV000000190;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126094103	126094103	NM_000274.3:c.550G>A	NP_000265.1:p.Ala184Thr	NC_000010.10:g.126094103C>T	OMIM Allelic Variant:613349.0024	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.542C>T (p.Thr181Met)	4942	OAT	Likely pathogenic	386833613	RCV000049540;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126094111	126094111	NM_000274.3:c.542C>T	NP_000265.1:p.Thr181Met	NC_000010.10:g.126094111G>A	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.539G>C (p.Arg180Thr)	4942	OAT	Pathogenic	121965040	RCV000000176;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126094114	126094114	NM_000274.3:c.539G>C	NP_000265.1:p.Arg180Thr	NC_000010.10:g.126094114C>G	OMIM Allelic Variant:613349.0008	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.532_536delTGGGG (p.Trp178Terfs)	4942	OAT	Likely pathogenic	386833612	RCV000049539;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126094117	126094121	NM_000274.3:c.532_536delTGGGG	NP_000265.1:p.Trp178Terfs	NC_000010.10:g.126094117_126094121delCCCCA	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.533G>A (p.Trp178Ter)	4942	OAT	Pathogenic	267606923	RCV000000202;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126094120	126094120	NM_000274.3:c.533G>A	NP_000265.1:p.Trp178Ter	NC_000010.10:g.126094120C>T	OMIM Allelic Variant:613349.0036	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.472_486delTATACCGTGAAGGGC (p.Tyr158_Gly162del)	4942	OAT	Likely pathogenic	386833611	RCV000049538;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126097145	126097159	NM_000274.3:c.472_486delTATACCGTGAAGGGC	NP_000265.1:p.Tyr158_Gly162del	NC_000010.10:g.126097145_126097159delGCCCTTCACGGTATA	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.461G>T (p.Arg154Leu)	4942	OAT	Pathogenic	121965039	RCV000000175;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126097170	126097170	NM_000274.3:c.461G>T	NP_000265.1:p.Arg154Leu	NC_000010.10:g.126097170C>A	OMIM Allelic Variant:613349.0007	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.425_520del (p.Gly142_Ala173del)	4942	OAT	Likely pathogenic;Pathogenic	386833609	RCV000000188;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126097203	126097211	NM_000274.3:c.425_520del	NP_000265.1:p.Gly142_Ala173del	NC_000010.10:g.126097203_126097211delACTCCTATC	OMIM Allelic Variant:613349.0022	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.425G>A (p.Gly142Glu)	4942	OAT	Likely pathogenic	386833610	RCV000049537;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126097206	126097206	NM_000274.3:c.425G>A	NP_000265.1:p.Gly142Glu	NC_000010.10:g.126097206C>T	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.425-2A>G	4942	OAT	Likely pathogenic	386833608	RCV000049535;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126097208	126097208	NM_000274.3:c.425-2A>G		NC_000010.10:g.126097208T>C	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.381dupT (p.Thr128Tyrfs)	4942	OAT	Likely pathogenic	386833607	RCV000049534;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126097353	126097353	NM_000274.3:c.381dupT	NP_000265.1:p.Thr128Tyrfs	NC_000010.10:g.126097353dupA	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.373_375delGAG (p.Glu125del)	4942	OAT	Likely pathogenic	386833606	RCV000049533;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126097359	126097361	NM_000274.3:c.373_375delGAG	NP_000265.1:p.Glu125del	NC_000010.10:g.126097359_126097361delCTC	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.362G>A (p.Gly121Asp)	4942	OAT	Likely pathogenic	386833605	RCV000049532;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126097372	126097372	NM_000274.3:c.362G>A	NP_000265.1:p.Gly121Asp	NC_000010.10:g.126097372C>T	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.311A>G (p.Gln104Arg)	4942	OAT	Likely pathogenic	386833604	RCV000049531;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126097423	126097423	NM_000274.3:c.311A>G	NP_000265.1:p.Gln104Arg	NC_000010.10:g.126097423T>C	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.278G>T (p.Cys93Phe)	4942	OAT	Pathogenic	121965038	RCV000000174;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126097456	126097456	NM_000274.3:c.278G>T	NP_000265.1:p.Cys93Phe	NC_000010.10:g.126097456C>A	OMIM Allelic Variant:613349.0006	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.272G>A (p.Gly91Glu)	4942	OAT	Likely pathogenic	386833603	RCV000049530;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126097462	126097462	NM_000274.3:c.272G>A	NP_000265.1:p.Gly91Glu	NC_000010.10:g.126097462C>T	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.268C>G (p.Gln90Glu)	4942	OAT	Pathogenic	121965060	RCV000000205;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126097466	126097466	NM_000274.3:c.268C>G	NP_000265.1:p.Gln90Glu	NC_000010.10:g.126097466G>C	OMIM Allelic Variant:613349.0039	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.267C>A (p.Asn89Lys)	4942	OAT	Likely pathogenic	386833602	RCV000049529;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126097467	126097467	NM_000274.3:c.267C>A	NP_000265.1:p.Asn89Lys	NC_000010.10:g.126097467G>T	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.199+303C>G	4942	OAT	Likely pathogenic	386833601	RCV000049528;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126100239	126100239	NM_000274.3:c.199+303C>G		NC_000010.10:g.126100239G>C	-	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.192_193delAG (p.Gly65Lysfs)	4942	OAT	Likely pathogenic;Pathogenic	386833600	RCV000000201;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126100548	126100549	NM_000274.3:c.192_193delAG	NP_000265.1:p.Gly65Lysfs	NC_000010.10:g.126100548_126100549delCT	OMIM Allelic Variant:613349.0035	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.163T>C (p.Tyr55His)	4942	OAT	Pathogenic	121965037	RCV000000173;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126100578	126100578	NM_000274.3:c.163T>C	NP_000265.1:p.Tyr55His	NC_000010.10:g.126100578A>G	OMIM Allelic Variant:613349.0005	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.162C>A (p.Asn54Lys)	4942	OAT	Pathogenic	121965048	RCV000000186;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126100579	126100579	NM_000274.3:c.162C>A	NP_000265.1:p.Asn54Lys	NC_000010.10:g.126100579G>T	OMIM Allelic Variant:613349.0019	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.159delC (p.His53Glnfs)	4942	OAT	Likely pathogenic;Pathogenic	386833599	RCV000000170;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126100582	126100582	NM_000274.3:c.159delC	NP_000265.1:p.His53Glnfs	NC_000010.10:g.126100582delG	OMIM Allelic Variant:613349.0002	C0599035 258870 Ornithine aminotransferase deficiency
NM_000274.3(OAT):c.3G>A (p.Met1Ile)	4942	OAT	Pathogenic	121965034	RCV000000169;	N	MedGen:C0599035,OMIM:258870,ORPHA:414,SNOMED CT:276426004	10	126100738	126100738	NM_000274.3:c.3G>A	NP_000265.1:p.Met1Ile	NC_000010.10:g.126100738C>T	OMIM Allelic Variant:613349.0001	C0599035 258870 Ornithine aminotransferase deficiency