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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Cataract (D002386)
..Starting node ..CATARACT 15, MULTIPLE TYPES (OMIM:615274)
Child Nodes:
Sister Nodes:
..3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA (OMIM:616271)
..Absent corpus callosum cataract immunodeficiency (C535566)
..Adams Nance syndrome (C538224)
..Adult i Blood Group with Congenital Cataract (C566214)
..Alpha-B Crystallinopathy (C563848)
..Alpha-B Crystallinopathy with Cataract (C563849)
..Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract (C566280)
..Anterior polar cataract 2 (C537774)
..Arachnodactyly ataxia cataract aminoaciduria mental retardation (C537424)
..Ataxia-Microcephaly-Cataract Syndrome (C563086)
..Autosomal recessive nonsyndromic congenital nuclear cataract (C537298)
..Bassoe syndrome (C537661)
..Bhaskar Jagannathan syndrome (C535437)
..CAHMR syndrome (C537959)
..CAMFAK syndrome (C537965)
..Capsule Opacification (D058442)
..CATARACT 13 WITH ADULT i PHENOTYPE (OMIM:116700)
..CATARACT 15, MULTIPLE TYPES (OMIM:615274)
..CATARACT 16, MULTIPLE TYPES (OMIM:613763)
..CATARACT 19, MULTIPLE TYPES (OMIM:615277)
..CATARACT 20, MULTIPLE TYPES (OMIM:116100)
..CATARACT 23, MULTIPLE TYPES (OMIM:610425)
..CATARACT 3, MULTIPLE TYPES (OMIM:601547)
..CATARACT 32, MULTIPLE TYPES (OMIM:115650)
..CATARACT 36 (OMIM:613887)
..CATARACT 38 (OMIM:614691)
..CATARACT 39, MULTIPLE TYPES (OMIM:615188)
..CATARACT 4, MULTIPLE TYPES (OMIM:115700)
..CATARACT 41 (OMIM:116400)
..CATARACT 42 (OMIM:115900)
..CATARACT 43 (OMIM:616279)
..CATARACT 44 (OMIM:616509)
..CATARACT 45 (OMIM:616851)
..CATARACT 46, JUVENILE-ONSET (OMIM:212500)
..CATARACT 6, MULTIPLE TYPES (OMIM:116600)
..Cataract and cardiomyopathy (C538280) L: 00403;
..Cataract and congenital ichthyosis (C538281)
..Cataract anterior polar dominant (C538282)
..Cataract ataxia deafness (C538283)
..Cataract congenital dominant non nuclear (C538284)
..Cataract congenital Volkmann type (C538285)
..Cataract Hutterite type (C538286)
..Cataract microcornea syndrome (C538287)
..Cataract, Age-Related Cortical, 1 (C563812)
..Cataract, Age-Related Nuclear (C563333)
..Cataract, alopecia, sclerodactyly (C535336)
..Cataract, Autosomal Dominant (C565815)
..Cataract, Autosomal Dominant Nuclear (C565137)
..Cataract, Autosomal Dominant, Multiple Types 1 (C566909)
..Cataract, Autosomal Recessive Congenital 1 (C565136)
..Cataract, autosomal recessive congenital 2 (C535337)
..Cataract, Autosomal Recessive Congenital 3 (C567835)
..Cataract, Autosomal Recessive, Early-Onset, Pulverulent (C565298)
..Cataract, Central Saccular, With Sutural Opacities (C565301)
..Cataract, Congenital Nuclear, Autosomal Recessive 1 (C563728)
..Cataract, Congenital Nuclear, Autosomal Recessive 2 (C565725)
..Cataract, Congenital Nuclear, Autosomal Recessive 3 (C566923)
..Cataract, Congenital Zonular, with Sutural Opacities (C563435)
..Cataract, Congenital, Cerulean Type, 2 (C563294)
..Cataract, Congenital, Cerulean Type, 3 (C563819)
..Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy (C564353)
..Cataract, congenital, with microcornea or slight microphthalmia (C535338)
..Cataract, Coppock-Like (C565133)
..Cataract, Cortical Pulverulent, Late-Onset (C563604)
..Cataract, Cortical, Juvenile-Onset (C566955)
..Cataract, Crystalline Aculeiform (C566162)
..Cataract, Crystalline Coralliform (C566161)
..Cataract, Floriform (C566160)
..Cataract, Juvenile, With Microcornea And Glucosuria (C567434)
..Cataract, Lamellar 2 (C566481)
..Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
..Cataract, Nuclear Diffuse Nonprogressive (C566157)
..Cataract, Nuclear Progressive (C564596)
..Cataract, Nuclear Total (C566156)
..Cataract, Polymorphic and Lamellar (C563603)
..Cataract, posterior polar, 1 (C535339)
..Cataract, Posterior Polar, 2 (C565134)
..Cataract, posterior polar, 3 (C535343)
..Cataract, posterior polar, 4 (C535344)
..Cataract, posterior polar, 5 (C535340)
..Cataract, Progressive Polymorphic Cortical (C565130)
..Cataract, Pulverulent (C563426)
..Cataract, Pulverulent, Juvenile-Onset (C565703)
..Cataract, Punctate, Progressive Juvenile-Onset (C565131)
..Cataract, Sutural, with Punctate and Cerulean Opacities (C564619)
..Cataract, Variable Zonular Pulverulent (C565132)
..Cataract, zonular (C535342)
..Cataract, Zonular Central Nuclear (C565135)
..Cataract, Zonular Pulverulent 1 (C566158)
..Cataract, Zonular Pulverulent 3 (C566608)
..Cataracts, ataxia, short stature, and mental retardation (C535345)
..Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation (C563390)
..CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
..Cerebrooculofacioskeletal Syndrome 2 (C565185)
..Cerebrooculofacioskeletal Syndrome 4 (C565184)
..Cerulean cataract (C537955)
..Cochleosaccular degeneration of the inner ear and progressive cataracts (C536432)
..Congenital Cataracts, Facial Dysmorphism, And Neuropathy (C565822)
..CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
..Cornea guttata with anterior polar cataract (C535471)
..Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..Crome syndrome (C536216)
..Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
..Dementia, familial Danish (C538209)
..Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..EDICT SYNDROME (OMIM:614303)
..Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis (C563430)
..Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
..Fine-Lubinsky syndrome (C537933)
..Flynn Aird syndrome (C537066)
..Goldstein Hutt syndrome (C537282)
..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
..Hydrocephalus, endocardial fibroelastosis, and cataracts (C535855)
..Hyperferritinemia, hereditary, with congenital cataracts (C538137)
..Hypertrophic Neuropathy And Cataract (C565490)
..Kahrizi Syndrome (C567196)
..Karandikar Maria Kamble syndrome (C537009)
..Kozlowski Rafinski Klicharska syndrome (C537509)
..Krasnow Qazi syndrome (C537616)
..Leg, Absence Deformity of, with Congenital Cataract (C565442)
..Leukodystrophy, Hypomyelinating, 5 (C567166)
..Lipodystrophy with Congenital Cataracts and Neurodegeneration (C564669)
..Lubinsky syndrome (C543092)
..Marinesco-Sjogren-like syndrome (MSLS) (C535913)
..Marshall syndrome (C536025)
..Martsolf syndrome (C536028)
..Microcephalic primordial dwarfism Toriello type (C537321)
..MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
..Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
..Microcephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..Microphthalmia, Cataracts, and Iris Abnormalities (C566448)
..Microphthalmia, Isolated, with Cataract 1 (C563582)
..Microphthalmia, Isolated, with Cataract 2 (C565876)
..Microphthalmia, Isolated, with Cataract 3 (C564452)
..Microphthalmia, Isolated, with Cataract 4 (C566480)
..Microphthalmia, syndromic 2 (C537465)
..Mousa Al din Al Nassar syndrome (C536989)
..Muscular dystrophy, congenital, infantile with cataract and hypogonadism (C537385)
..MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769) L: 00045;
..MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION (OMIM:614292)
..Nance-Horan syndrome (C538336)
..Nathalie syndrome (C538342)
..NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (OMIM:617393)
..O'Donnell Pappas syndrome (C537858)
..Optic atrophy and cataract, autosomal dominant (C537128)
..Osteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
..PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME (OMIM:606721)
..Pavone Fiumara Rizzo syndrome (C536313)
..Peters anomaly with cataract (C537885)
..Polycystic Kidney, Cataract, and Congenital Blindness (C564882)
..Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..Premature aging, Okamoto type (C535270)
..RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT (OMIM:616722)
..RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
..Schaap Taylor Baraitser syndrome (C536626)
..Seemanova Lesny syndrome (C537536)
..Seow Najjar syndrome (C537584)
..Singh Chhaparwal Dhanda syndrome (C537341)
..Slavotinek Pike Mills Hurst syndrome (C536672)
..Spastic paraplegia 9, autosomal dominant (C536868)
..Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation (C566515)
..Spondyloocular Syndrome, Autosomal Recessive (C565285)
..Warburg Sjo Fledelius syndrome (C536681)
..Wellesley Carmen French syndrome (C536691)
..Zonular cataract and nystagmus (C536727)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

1948

Name:

CATARACT 15, MULTIPLE TYPES

Definition:

Alternative IDs:

DO:DOID:0110251

ParentIDs:

MESH:D002386

TreeNumbers:

C11.510.245/615274

Synonyms:

CTRCT15

Slim Mappings:

Eye disease

Reference:

MedGen: 615274
MeSH: 615274
OMIM: 615274;
MSeqDR :
Genes: MIP;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000518	Cataract NAMDC: Cataracts

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_012064.4(MIP):c.*1495T>C	4284	MIP	Uncertain significance	769951572	RCV001108969;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56843569	56843569	12:g.56843569A>G	-
NM_012064.4(MIP):c.*1373A>G	4284	MIP	Benign	181959264	RCV000334171;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56843691	56843691	12:g.56843691T>C	ClinGen:CA10642906	C0086543 Cataract;
NM_012064.4(MIP):c.*1262C>G	4284	MIP	Uncertain significance	1868534260	RCV001108970;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56843802	56843802	12:g.56843802G>C	-
NM_012064.4(MIP):c.*1171C>A	4284	MIP	Benign	2371455	RCV000375803;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56843893	56843893	NC_000012.11:g.56843893G>T	ClinGen:CA10638145	C0086543 Cataract;
NM_012064.4(MIP):c.*1104T>A	4284	MIP	Benign	72478921	RCV001108971;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56843960	56843960	12:g.56843960A>T	-
NM_012064.4(MIP):c.*1103C>T	4284	MIP	Uncertain significance	886049689	RCV000283491;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56843961	56843961	NC_000012.11:g.56843961G>A	ClinGen:CA10642909	C0086543 Cataract;
NM_012064.4(MIP):c.*969G>A	4284	MIP	Uncertain significance	543075454	RCV001108972;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56844095	56844095	12:g.56844095C>T	-
NM_012064.4(MIP):c.*957G>A	4284	MIP	Uncertain significance	924408819	RCV001108973;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56844107	56844107	12:g.56844107C>T	-
NM_012064.4(MIP):c.*955G>A	4284	MIP	Uncertain significance	1043213686	RCV001111327;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56844109	56844109	12:g.56844109C>T	-
NM_012064.4(MIP):c.*799A>G	4284	MIP	Benign	140453442	RCV000340815;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56844265	56844265	NC_000012.11:g.56844265T>C	ClinGen:CA10638146	C0086543 Cataract;
NM_012064.4(MIP):c.*793C>A	4284	MIP	Uncertain significance	891386760	RCV001111328;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56844271	56844271	12:g.56844271G>T	-
NM_012064.4(MIP):c.*774G>C	4284	MIP	Likely benign	66826398	RCV000379197;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56844290	56844290	NC_000012.11:g.56844290C>G	ClinGen:CA10633315	C0086543 Cataract;
NM_012064.4(MIP):c.*715G>A	4284	MIP	Benign	3809125	RCV000344173;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56844349	56844349	NC_000012.11:g.56844349C>T	ClinGen:CA10633317	C0086543 Cataract;
NM_012064.4(MIP):c.*674G>A	4284	MIP	Uncertain significance	150155933	RCV000391998;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56844390	56844390	NC_000012.11:g.56844390C>T	ClinGen:CA10633320	C0086543 Cataract;
NM_012064.4(MIP):c.*661C>T	4284	MIP	Uncertain significance	1470004718	RCV001111329;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56844403	56844403	12:g.56844403G>A	-
NM_012064.4(MIP):c.*615A>G	4284	MIP	Benign	17118657	RCV000309342;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56844449	56844449	NC_000012.11:g.56844449T>C	ClinGen:CA10633323	C0086543 Cataract;
NM_012064.4(MIP):c.*601G>A	4284	MIP	Uncertain significance	565229690	RCV000347812;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56844463	56844463	NC_000012.11:g.56844463C>T	ClinGen:CA10638147	C0086543 Cataract;
NM_012064.4(MIP):c.*542C>T	4284	MIP	Uncertain significance	1400800798	RCV001113331;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56844522	56844522	12:g.56844522G>A	-
NM_012064.4(MIP):c.*505T>C	4284	MIP	Benign	774053	RCV000391996;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56844559	56844559	NC_000012.11:g.56844559A>G	ClinGen:CA10638149	C0086543 Cataract;
NM_012064.4(MIP):c.*491A>C	4284	MIP	Benign	137926387	RCV000312503;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56844573	56844573	NC_000012.11:g.56844573T>G	ClinGen:CA10633325	C0086543 Cataract;
NM_012064.4(MIP):c.*407A>G	4284	MIP	Benign	72478920	RCV000369397;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56844657	56844657	NC_000012.11:g.56844657T>C	ClinGen:CA10638150	C0086543 Cataract;
NM_012064.4(MIP):c.*342C>T	4284	MIP	Uncertain significance	886049690	RCV000277262;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56844722	56844722	NC_000012.11:g.56844722G>A	ClinGen:CA10642911	C0086543 Cataract;
NM_012064.4(MIP):c.*284T>C	4284	MIP	Likely benign	148601602	RCV000297323\|RCV001582949;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492\|MedGen:C3661900	12	56844780	56844780	NC_000012.11:g.56844780A>G	ClinGen:CA10638151	C0086543 Cataract;
NM_012064.4(MIP):c.*136T>G	4284	MIP	Uncertain significance	1481521864	RCV001114702;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56844928	56844928	12:g.56844928A>C	-
NM_012064.4(MIP):c.*94T>G	4284	MIP	Benign	2935008	RCV000376067\|RCV001672478;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492\|MedGen:CN517202	12	56844970	56844970	NC_000012.11:g.56844970A>C	ClinGen:CA10642913	C0086543 Cataract;
NM_012064.4(MIP):c.*49G>A	4284	MIP	Likely benign	746044208	RCV001114703;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56845015	56845015	12:g.56845015C>T	-
NM_012064.4(MIP):c.*32T>C	4284	MIP	Benign	185699444	RCV001114704;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56845032	56845032	12:g.56845032A>G	-
NM_012064.4(MIP):c.714G>A (p.Lys238=)	4284	MIP	Likely benign	-1	RCV002624419;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56845142	56845142		-
NM_012064.4(MIP):c.713A>C (p.Lys238Thr)	4284	MIP	Uncertain significance	755752015	RCV000695582\|RCV002532310;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492\|MeSH:D030342,MedGen:C0950123	12	56845143	56845143	NC_000012.11:g.56845143T>G	-	C3809001 615274 Cataract 15, multiple types;
NM_012064.4(MIP):c.694G>C (p.Glu232Gln)	4284	MIP	Uncertain significance	773085032	RCV002266116\|RCV003289488;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492\|MeSH:D030342,MedGen:C0950123	12	56845162	56845162	56845162	-
NM_012064.4(MIP):c.638del (p.Gly213fs)	4284	MIP	Pathogenic	398122378	RCV000043661\|RCV002281048\|RCV003407418;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492\|MedGen:C3661900\|	12	56845218	56845218	12:g.56845218_56845218del	ClinGen:CA214993,OMIM:154050.0003	C3809001 615274 Cataract 15, multiple types;
NM_012064.4(MIP):c.616_632del (p.Val206fs)	4284	MIP	Pathogenic	-1	RCV002470473;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56845224	56845240	NC_000012.11:g.56845227_56845243del	-
NM_012064.4(MIP):c.623del (p.Pro208fs)	4284	MIP	Pathogenic	1555179713	RCV000557792;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56845233	56845233	12:g.56845233_56845233del	ClinGen:CA658658161	C3809001 615274 Cataract 15, multiple types;
NM_012064.4(MIP):c.606+1G>C	4284	MIP	Pathogenic	1220143491	RCV001381265;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56846855	56846855	56846855	-
NM_012064.4(MIP):c.560G>T (p.Arg187Leu)	4284	MIP	Uncertain significance	759746926	RCV000545249;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56846902	56846902	NC_000012.11:g.56846902C>A	ClinGen:CA385270599	C3809001 615274 Cataract 15, multiple types;
NM_012064.4(MIP):c.559del (p.Arg187fs)	4284	MIP	Likely pathogenic	-1	RCV002280025;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56846903	56846903	56846902	-
NM_012064.4(MIP):c.525+1G>A	4284	MIP	Likely pathogenic	1868687508	RCV001214688;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56847374	56847374	12:g.56847374C>T	-
NM_012064.4(MIP):c.516C>T (p.His172=)	4284	MIP	Benign	36032520	RCV000537178;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56847384	56847384	NC_000012.11:g.56847384G>A	ClinGen:CA6632560	C3809001 615274 Cataract 15, multiple types;
NM_012064.4(MIP):c.508dup (p.Leu170fs)	4284	MIP	Pathogenic	1057519616	RCV000420543;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56847391	56847392	12:g.56847391_56847392insG	ClinGen:CA16603363	C3809001 615274 Cataract 15, multiple types;
NM_012064.4(MIP):c.506C>A (p.Ala169Asp)	4284	MIP	Uncertain significance	1868688639	RCV001253174;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56847394	56847394	12:g.56847394G>T	-
NM_012064.4(MIP):c.493G>A (p.Gly165Ser)	4284	MIP	Uncertain significance	886049692	RCV000265664;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56847407	56847407	NC_000012.11:g.56847407C>T	ClinGen:CA10638154	C0086543 Cataract;
NM_012064.4(MIP):c.490G>A (p.Val164Ile)	4284	MIP	Likely benign	149279854	RCV001114705\|RCV001775009;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492\|Human Phenotype Ontology:HP:0000519,Human Phenotype Ontology:HP:0001108,Human Phenotype Ontology:HP:0007679,Human Phenotype Ontology:HP:0007726,Human Phenotype Ontology:HP:0007788,MedGen:C00	12	56847410	56847410	12:g.56847410C>T	-
NM_012064.4(MIP):c.433A>C (p.Ile145Leu)	4284	MIP	Uncertain significance	1868692984	RCV001309898;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56847467	56847467	56847467	-
NM_012064.4(MIP):c.424G>A (p.Val142Met)	4284	MIP	Uncertain significance	966166555	RCV001109082\|RCV002556132;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492\|MeSH:D030342,MedGen:C0950123	12	56847476	56847476	12:g.56847476C>T	-
NM_012064.4(MIP):c.413C>G (p.Thr138Arg)	4284	MIP	Pathogenic	121917867	RCV000015428;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56847487	56847487	12:g.56847487G>C	ClinGen:CA214940,UniProtKB:P30301#VAR_011498,OMIM:154050.0001	C3809001 615274 Cataract 15, multiple types;
NM_012064.4(MIP):c.401A>G (p.Glu134Gly)	4284	MIP	Pathogenic	121917869	RCV000015429;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56847499	56847499	12:g.56847499T>C	ClinGen:CA214941,UniProtKB:P30301#VAR_011497,OMIM:154050.0002	C3809001 615274 Cataract 15, multiple types;
NM_012064.4(MIP):c.378C>T (p.Ser126=)	4284	MIP	Likely benign	35033450	RCV000323057;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56847522	56847522	NC_000012.11:g.56847522G>A	ClinGen:CA6632585	C0086543 Cataract;
NM_012064.4(MIP):c.361-10C>T	4284	MIP	Uncertain significance	886049693	RCV000379982;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56847549	56847549	NC_000012.11:g.56847549G>A	ClinGen:CA10638162	C0086543 Cataract;
NM_012064.4(MIP):c.323C>T (p.Thr108Ile)	4284	MIP	Uncertain significance	760722691	RCV000556443;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56848075	56848075	12:g.56848075G>A	ClinGen:CA6632631	C3809001 615274 Cataract 15, multiple types;
NM_012064.4(MIP):c.319G>A (p.Val107Ile)	4284	MIP	Benign/Likely benign	74641138	RCV000241787\|RCV000556222\|RCV001723852;	N	MedGen:CN169374\|MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492\|MedGen:C3661900	12	56848079	56848079	NC_000012.11:g.56848079C>T	ClinGen:CA6632632,UniProtKB:P30301#VAR_071602	C0086543 Cataract;
NM_012064.4(MIP):c.199G>A (p.Val67Ile)	4284	MIP	Benign	77163805	RCV000871663\|RCV001692306;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492\|MedGen:C3661900	12	56848199	56848199	12:g.56848199C>T	-
NM_012064.4(MIP):c.172T>G (p.Ser58Ala)	4284	MIP	Uncertain significance	-1	RCV002796066;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56848226	56848226	NC_000012.11:g.56848226A>C	-
NM_012064.4(MIP):c.119A>G (p.His40Arg)	4284	MIP	Uncertain significance	1436119727	RCV001973039;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56848279	56848279	56848279	-
NM_012064.4(MIP):c.98G>A (p.Arg33His)	4284	MIP	Likely benign	139963297	RCV000345155;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56848300	56848300	NC_000012.11:g.56848300C>T	ClinGen:CA6632659	C0086543 Cataract;
NM_012064.4(MIP):c.97C>T (p.Arg33Cys)	4284	MIP	Pathogenic	864309693	RCV000203320\|RCV001390816\|RCV002512064;	N	Human Phenotype Ontology:HP:0000519,Human Phenotype Ontology:HP:0001108,Human Phenotype Ontology:HP:0007679,Human Phenotype Ontology:HP:0007726,Human Phenotype Ontology:HP:0007788,MedGen:C0009691\|MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:	12	56848301	56848301	NC_000012.11:g.56848301G>A	ClinGen:CA278813,UniProtKB:P30301#VAR_071601	C0009691 Congenital cataract;
NM_012064.4(MIP):c.-4T>C	4284	MIP	Likely benign	117788190	RCV000383283;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56848401	56848401	NC_000012.11:g.56848401A>G	ClinGen:CA6632675	C0086543 Cataract;
NM_012064.4(MIP):c.-10C>A	4284	MIP	Benign/Likely benign	61759527	RCV000291340\|RCV001565058;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492\|MedGen:C3661900	12	56848407	56848407	NC_000012.11:g.56848407G>T	ClinGen:CA6632679	C0086543 Cataract;
NM_012064.4(MIP):c.-26C>A	4284	MIP	Uncertain significance	1172594016	RCV001111422;	N	MONDO:MONDO:0014110,MedGen:C3809001,OMIM:615274, Orphanet:91492	12	56848423	56848423	12:g.56848423G>T	-

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