NIGMS Collection - Samples with Characterized Mutations

Disease	View Samples
5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR	View
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA	View
ACHONDROGENESIS, TYPE II; ACG2	View
ACHONDROPLASIA; ACH	View
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD	View
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF	View
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF	View
ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD	View
ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	View
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	View
ADRENAL HYPOPLASIA, CONGENITAL; AHC	View
ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM	View
ADRENOLEUKODYSTROPHY; ALD	View
ALAGILLE SYNDROME 1; ALGS1	View
ALBINISM, OCULOCUTANEOUS, TYPE 1A; OCA1A	View
ALEXANDER DISEASE	View
ALZHEIMER DISEASE; AD	View
AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1	View
ANGELMAN SYNDROME; AS	View
ARGININEMIA	View
ARGININOSUCCINIC ACIDURIA	View
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY	View
ASPARTYLGLUCOSAMINURIA	View
ATAXIA-PANCYTOPENIA SYNDROME; ATXPC	View
ATAXIA-TELANGIECTASIA; AT	View
ATR-X SYNDROME	View
ATRANSFERRINEMIA	View
BARTH SYNDROME; BTHS	View
BETHLEM MYOPATHY	View
BLAU SYNDROME; BLAUS	View
BLOOM SYNDROME; BLM	View
BREAST CANCER 2, EARLY-ONSET; BRCA2	View
BREAST CANCER, TYPE 1; BRCA1	View
BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK	View
CANAVAN DISEASE	View
CANCER OF THE BREAST, FAMILIAL; BCS	View
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY	View
CARBOXYPEPTIDASE N DEFICIENCY	View
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1	View
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4	View
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP	View
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET	View
CENTRAL CORE DISEASE OF MUSCLE	View
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1; CADASIL1	View
CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4	View
CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1	View
CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2	View
CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3	View
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D	View
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B	View
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A	View
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C	View
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED; CMTX1	View
CHEDIAK-HIGASHI SYNDROME; CHS1 LYSOSOMAL TRAFFICKING REGULATOR, INCLUDED; LYST, INCLUDED	View
CHERUBISM	View
CHOROIDEREMIA; CHM	View
CHROMOSOME 2Q37 DELETION SYNDROME	View
CITRULLINEMIA, CLASSIC	View
CLEFT LIP/PALATE - ECTODERMAL DYSPLASIA SYNDROME; CLPED1	View
COAGULATION FACTOR II; F2	View
COCKAYNE SYNDROME, TYPE A; CSA	View
COCKAYNE SYNDROME, TYPE B; CSB	View
CODAS SYNDROME	View
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	View
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic	View
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id	View
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie	View
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If	View
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig	View
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij	View
CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA	View
CORNELIA DE LANGE SYNDROME 1; CDLS1	View
COWDEN DISEASE; CD	View
CRIGLER-NAJJAR SYNDROME	View
CYSTATHIONINURIA	View
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR	View
CYSTIC FIBROSIS; CF	View
CYSTINOSIS, ADULT NONNEPHROPATHIC	View
CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE	View
CYSTINOSIS, NEPHROPATHIC; CTNS	View
CYSTINURIA; CSNU	View
DE SANCTIS-CACCHIONE SYNDROME	View
DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A	View
DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28	View
DEAFNESS, AUTOSOMAL RECESSIVE 39; DFNB39	View
DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49	View
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA	View
DENYS-DRASH SYNDROME; DDS	View
DYGGVE-MELCHIOR-CLAUSEN DISEASE	View
DYSKERATOSIS CONGENITA, X-LINKED; DKC	View
DYSTROPHIA MYOTONICA 1; DM1	View
EHLERS-DANLOS SYNDROME, TYPE I; EDS1	View
EHLERS-DANLOS SYNDROME, TYPE II; EDS2	View
EHLERS-DANLOS SYNDROME, TYPE VI	View
EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPE	View
EMERY-DREIFUSS MUSCULAR DYSTROPHY, 1; EDMD1	View
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2	View
ENCEPHALOPATHY OF CHILDHOOD (LENNOX-GASTAUT SYNDROME)	View
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS	View
EPISODIC ATAXIA, TYPE 2; EA2	View
FABRY DISEASE	View
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1	View
FACTOR V DEFICIENCY	View
FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1	View
FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC	View
FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2	View
FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF	View
FARBER LIPOGRANULOMATOSIS	View
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP	View
FRAGILE X MENTAL RETARDATION SYNDROME	View
FRIEDREICH ATAXIA 1; FRDA	View
FRONTOTEMPORAL DEGENERATION	View
FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	View
FUCOSIDOSIS	View
GALACTOKINASE DEFICIENCY	View
GALACTOSEMIA	View
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II, OR JUVENILE TYPE	View
GAUCHER DISEASE, TYPE I	View
GAUCHER DISEASE, TYPE II	View
GAUCHER DISEASE, TYPE III	View
GELEOPHYSIC DYSPLASIA 1; GPHYSD1	View
GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD	View
GLUTARICACIDEMIA I	View
GLYCOGEN STORAGE DISEASE I	View
GLYCOGEN STORAGE DISEASE II	View
GLYCOGEN STORAGE DISEASE V	View
GROWTH HORMONE INSENSITIVITY SYNDROME	View
GYRATE ATROPHY OF CHOROID AND RETINA; GACR	View
HARTNUP DISORDER	View
HEMOCHROMATOSIS, NEONATAL	View
HEMOCHROMATOSIS; HFE	View
HEMOGLOBIN--ALPHA LOCUS 1; HBA1	View
HEMOGLOBIN--BETA LOCUS; HBB	View
HEMOPHILIA B; HEMB	View
HERMANSKY-PUDLAK SYNDROME 2; HPS2	View
HERMANSKY-PUDLAK SYNDROME; HPS	View
HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 142880	View
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY	View
HOMOCYSTINURIA	View
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY	View
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE; HMAG	View
HUNTINGTON DISEASE; HD	View
HURLER SYNDROME	View
HURLER-SCHEIE SYNDROME	View
HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS	View
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH	View
HYPERCHOLESTEROLEMIA, FAMILIAL; FHC	View
HYPERGLYCEROLEMIA	View
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS	View
HYPOCHONDROPLASIA; HCH	View
HYPOPHOSPHATASIA, INFANTILE	View
HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT	View
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	View
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD	View
ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY	View
KEARNS-SAYRE SYNDROME; KSS	View
KRABBE DISEASE	View
LANGER MESOMELIC DYSPLASIA	View
LEBER OPTIC ATROPHY	View
LEIGH SYNDROME; LS	View
LEPRECHAUNISM	View
LESCH-NYHAN SYNDROME; LNS	View
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM (OVARIOLEUKODYSTROPHY, INCLUDED)	View
LIG4 SYNDROME	View
LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY	View
LOWE OCULOCEREBRORENAL SYNDROME; OCRL	View
MACHADO-JOSEPH DISEASE; MJD	View
MANNOSIDOSIS, ALPHA B, LYSOSOMAL	View
MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB	View
MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA	View
MAPLE SYRUP URINE DISEASE (MSUD), TYPE II	View
MARFAN SYNDROME; MFS	View
MARSHALL SYNDROME	View
MATURITY ONSET DIABETES OF THE YOUNG, TYPE II; MODY2	View
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1	View
MEDITERRANEAN FEVER, FAMILIAL; MEFV	View
MELANOMA, CUTANEOUS MALIGNANT, 2; CMM2	View
MENKES SYNDROME	View
MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1	View
METHIONINE ADENOSYLTRANSFERASE DEFICIENCY	View
METHYLMALONICACIDURIA DUE TO METHYLMALONIC COA MUTASE DEFICIENCY	View
MICROCEPHALY WITH CHORIORETINOPATHY	View
MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH ATAXIA	View
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A	View
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME; MVA	View
MUCOLIPIDOSIS II; ML2; ML II	View
MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C	View
MUCOLIPIDOSIS IIIA	View
MUCOLIPIDOSIS IV	View
MUCOPOLYSACCHARIDOSIS TYPE II	View
MUCOPOLYSACCHARIDOSIS TYPE IIIA	View
MUCOPOLYSACCHARIDOSIS TYPE IIIB	View
MUCOPOLYSACCHARIDOSIS TYPE IIID	View
MUCOPOLYSACCHARIDOSIS TYPE IVB	View
MUCOPOLYSACCHARIDOSIS TYPE VII	View
MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9	View
MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO	View
MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1	View
MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2	View
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B	View
MUSCULAR DYSTROPHY, BECKER TYPE; BMD	View
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A	View
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	View
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A	View
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B	View
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 (WALKER-WARBURG SYNDROME INCLUDED)	View
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3	View
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 (WALKER-WARBURG SYNDROME INCLUDED)	View
MYHRE SYNDROME; MYHRS	View
MYOCLONIC EPILEPSY OF LAFORA	View
MYOCLONUS EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERFF	View
MYOPATHY, CENTRONUCLEAR, 1; CNM1	View
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD	View
MYOTUBULAR MYOPATHY 1; MTM1	View
N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NAGS DEFICIENCY	View
NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2	View
NEMALINE MYOPATHY 3; NEM3	View
NEMALINE MYOPATHY, AMISH TYPE; ANM	View
NEURAMINIDASE DEFICIENCY	View
NEUROFIBROMATOSIS, TYPE I; NF1	View
NEUROFIBROMATOSIS, TYPE II; NF2	View
NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS	View
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3	View
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP	View
NIEMANN-PICK DISEASE, TYPE A	View
NIEMANN-PICK DISEASE, TYPE B	View
NIEMANN-PICK DISEASE, TYPE C1; NPC1	View
NIEMANN-PICK DISEASE, TYPE C2	View
NIJMEGEN BREAKAGE SYNDROME	View
NORRIE DISEASE; NDP - 310600	View
OCULOPHARARYNGEAL MUSCULAR DYSTROPHY; OPMD	View
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC	View
OSTEOGENESIS IMPERFECTA, TYPE I; OI1	View
OSTEOGENESIS IMPERFECTA, TYPE II; OI2	View
OSTEOGENESIS IMPERFECTA, TYPE IV; OI4	View
PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN; HALLERVORDEN-SPATZ DISEASE INCLUDED	View
PARKINSON DISEASE,FAMILIAL, TYPE 1; PARK1	View
PAROXYSMAL EXTREME PAIN DISORDER; PEPD	View
PELIZAEUS-MERZBACHER DISEASE; PMD	View
PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY	View
PHENYLKETONURIA	View
PIEBALD TRAIT; PBT	View
PORPHYRIA, ACUTE INTERMITTENT	View
POTOCKI-LUPSKI SYNDROME; PTLS	View
PRADER-WILLI SYNDROME; PWS	View
PROPIONIC ACIDEMIA	View
PROTOPORPHYRIA, ERYTHROPOIETIC	View
PSEUDONEONATAL ADRENOLEUKODYSTROPHY	View
PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL RECESSIVE; PXE	View
PYROGLUTAMICACIDURIA	View
PYRUVATE DECARBOXYLASE DEFICIENCY	View
REFSUM DISEASE, INFANTILE FORM	View
RETINITIS PIGMENTOSA 1; RP1	View
RETINITIS PIGMENTOSA; RP	View
RETT SYNDROME; RTT	View
ROBERTS SYNDROME; RBS	View
SALLA DISEASE	View
SANDHOFF DISEASE	View
SCHEIE SYNDROME	View
SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME	View
SECKEL SYNDROME	View
SELENON-RELATED MYOPATHY; RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1	View
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	View
SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME	View
SHWACHMAN-DIAMOND SYNDROME 1; SDS1	View
SICKLE CELL ANEMIA	View
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1	View
SJOGREN-LARSSON SYNDROME	View
SMITH-LEMLI-OPITZ SYNDROME; SLOS	View
SMITH-MAGENIS SYNDROME; SMS	View
SOTOS SYNDROME	View
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4	View
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1	View
SPINAL MUSCULAR ATROPHY I; SMA1	View
SPINAL MUSCULAR ATROPHY, TYPE II; SMA2	View
SPINOCEREBELLAR ATAXIA 1; SCA1	View
SPONDYLOPERIPHERAL DYSPLASIA	View
STICKLER SYNDROME, TYPE I; STL1	View
TAY-SACHS DISEASE, AB VARIANT	View
TAY-SACHS DISEASE; TSD	View
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT	View
THANATOPHORIC DYSPLASIA; TD	View
THROMBOCYTHEMIA, ESSENTIAL	View
TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1	View
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1	View
TRICHOTHIODYSTROPHY; TTD ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDED	View
TRIFUNCTIONAL PROTEIN DEFICIENCY	View
TUBEROUS SCLEROSIS 1; TSC1	View
TURCOT SYNDROME	View
TYROSINEMIA, TYPE I	View
ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1	View
USHER SYNDROME, TYPE IC; USH1C	View
VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD	View
VICI SYNDROME; VICIS	View
VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED	View
VON HIPPEL-LINDAU SYNDROME; VHL	View
WILSON DISEASE	View
WINCHESTER SYNDROME; WNCHRS	View
WISKOTT-ALDRICH SYNDROME; WAS	View
WOLFRAM SYNDROME	View
WOLMAN DISEASE	View
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA	View
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC	View
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD	View
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E	View
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF	View
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG	View
XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV	View
ZELLWEGER SYNDROME; ZS	View