Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)

General information

Laboratory for Molecular Medicine
Partners HealthCare Personalized Medicine
Cambridge, Massachusetts
United States - 02139-4232
http://www.partners.org/personalizedmedicine/lmm

Total submissions: 6996

Summary of submissions to ClinVar

Gene

GeneSubmissionsLast Updated
ABCC952Jun 23, 2014
ACTA25Jun 23, 2014
ACTC130Jun 23, 2014
ACTG16Jun 23, 2014
ACTN265Jun 23, 2014
ANKRD114Jun 23, 2014
APC21Jul 3, 2014
ATP6V1B112Jun 23, 2014
ATP6V1B1-AS11Jun 23, 2014
BAG319Jun 23, 2014
BRAF67Jun 23, 2014
BSND10Jun 23, 2014
C10orf10528Jun 23, 2014
CASQ219Jun 23, 2014
CAV313Jun 23, 2014
CBL22Jul 3, 2014
CCDC5012Jun 23, 2014
CDH23244Jun 23, 2014
CEP85L6Jun 23, 2014
CFTR7Jun 23, 2014
CLCC11Jun 23, 2014
CLDN147Jun 23, 2014
CLRN111Jun 23, 2014
COCH2Jun 23, 2014
COL11A217Jun 23, 2014
CRYAB8Jun 23, 2014
CRYM3Jun 23, 2014
CSRP318Jun 23, 2014
CTF112Jun 23, 2014
DES38Jun 23, 2014
DFNA512Jun 23, 2014
DFNB3145Jun 23, 2014
DFNB596Jun 23, 2014
DIAPH15Jun 23, 2014
DNASE1L13Jun 23, 2014
DSC252Jun 23, 2014
DSCAS2Jun 23, 2014
DSG261Jun 23, 2014
DSP141Jun 23, 2014
DTNA27Jun 23, 2014
EDA35Jun 23, 2014
EGFR82Jun 23, 2014
EGFR-AS129Jun 23, 2014
ELN7Jun 23, 2014
EMD9Jun 23, 2014
ERBB212Aug 4, 2014
ESRRB8Jun 23, 2014
EYA113Jun 23, 2014
EYA46Jun 23, 2014
EYA4-AS11Jun 23, 2014
FBN1191Jul 3, 2014
FHL214Jun 23, 2014
GATA44Jun 23, 2014
GATAD15Jun 23, 2014
GIPC32Jun 23, 2014
GJB273Jul 3, 2014
GJB36Jun 23, 2014
GJB67Jun 23, 2014
GLA21Jun 23, 2014
GPR98166Jul 3, 2014
GPSM210Jun 23, 2014
GRHL29Jun 23, 2014
GRXCR14Jun 23, 2014
HGF6Jun 23, 2014
HOPX2Jun 23, 2014
HRAS21Jun 23, 2014
ILDR110Jun 23, 2014
JAG111Jun 23, 2014
JUP33Jun 23, 2014
KCNE13Jun 30, 2014
KCNQ111Jun 23, 2014
KCNQ1OT12Jun 23, 2014
KCNQ49Jun 23, 2014
KRAS32Jun 23, 2014
LAMA478Jun 23, 2014
LAMP238Jun 23, 2014
LDB377Jun 23, 2014
LMNA83Jun 23, 2014
LOC1005060712Jun 23, 2014
LOC10065277022Jun 23, 2014
LOC10192705517Jun 23, 2014
LOC1019276402Jun 23, 2014
LOC10192817430Jun 23, 2014
LOC1027233777Jun 23, 2014
LOXHD136Jun 23, 2014
LRTOMT5Jun 23, 2014
MAP2K122Jun 23, 2014
MAP2K239Jun 23, 2014
MARVELD25Jun 23, 2014
MIR208A1Jun 23, 2014
MLH14Jun 23, 2014
MSH26Jun 23, 2014
MSH611Jun 23, 2014
MSRB32Jun 23, 2014
MT-RNR132May 20, 2014
MT-TS17May 20, 2014
MYBPC3332Jun 23, 2014
MYH1440Jun 23, 2014
MYH6109Jun 23, 2014
MYH7326Jul 3, 2014
MYH928Jun 23, 2014
MYL233Jun 23, 2014
MYL320Jun 23, 2014
MYLK221Jun 23, 2014
MYO15A38Jun 23, 2014
MYO1A10Jun 23, 2014
MYO3A33Jun 23, 2014
MYO639Jun 23, 2014
MYO7A219Jul 3, 2014
MYOZ216Jun 23, 2014
NEBL31Jun 23, 2014
NEXN32Jun 23, 2014
NKX2-54Jun 23, 2014
NRAS5Jun 23, 2014
OTOA4Jun 23, 2014
OTOF143Jun 23, 2014
PCDH1589Jun 23, 2014
PDZD719Jun 23, 2014
PIK3CA7Jun 23, 2014
PKP294Jun 23, 2014
PLN6Jun 23, 2014
POU3F49Jun 23, 2014
POU4F32Jun 23, 2014
PRKAG262Jun 23, 2014
PTPN1166Jun 23, 2014
RAF142Jun 23, 2014
RBM2072Jun 23, 2014
RDX5Jun 23, 2014
RET2Jun 23, 2014
RPL36A-HNRNPH221Jun 23, 2014
RYR2164Jul 3, 2014
SCN5A49Jun 23, 2014
SDHB7Jun 23, 2014
SDHC1May 20, 2014
SDHD3Jun 23, 2014
SERPINB65Jun 23, 2014
SGCD22Jun 23, 2014
SHOC23Jun 23, 2014
SLC17A84Jun 23, 2014
SLC26A4103Jun 23, 2014
SLC26A4-AS111Jun 23, 2014
SLC26A58Jun 23, 2014
SNAPC51Jun 23, 2014
SOS169Jun 23, 2014
SPRED110Jun 23, 2014
SSUH23Jun 23, 2014
TAZ19Jun 23, 2014
TCAP14Jun 23, 2014
TECTA29Jun 23, 2014
TGFBR18Jun 23, 2014
TGFBR216Jun 23, 2014
TIMM8A1Jun 23, 2014
TJP223Jun 23, 2014
TMC127Jun 23, 2014
TMEM1271Jun 23, 2014
TMEM4325Jun 23, 2014
TMIE8Jun 23, 2014
TMPO25Jun 23, 2014
TMPO-AS12Jun 23, 2014
TMPRSS347Jun 23, 2014
TNNC19Jun 23, 2014
TNNI345Jun 23, 2014
TNNT274Jun 23, 2014
TP539Jul 3, 2014
TPM168Jul 3, 2014
TPRN2Jun 23, 2014
TRIOBP21Jun 23, 2014
TTN1279Jul 3, 2014
TTN-AS1649Jul 3, 2014
TTR11Jun 23, 2014
USH1C61Jun 23, 2014
USH1G15Jun 23, 2014
USH2A301Jun 23, 2014
VCL53Jun 23, 2014
VHL12Jun 23, 2014
WFS137Jun 23, 2014

Testing in GTR

Disease nameNumber of tests
3-Methylglutaconic aciduria type 24 tests
Alagille syndrome 12 tests
Alpha-1-antitrypsin deficiency2 tests
Alpha-B crystallinopathy1 test
Amyloidogenic transthyretin amyloidosis3 tests
Aortic aneurysm, familial thoracic 61 test
Arrhythmogenic right ventricular cardiomyopathy, type 102 tests
Arrhythmogenic right ventricular cardiomyopathy, type 112 tests
Arrhythmogenic right ventricular cardiomyopathy, type 122 tests
Arrhythmogenic right ventricular cardiomyopathy, type 22 tests
Arrhythmogenic right ventricular cardiomyopathy, type 52 tests
Arrhythmogenic right ventricular cardiomyopathy, type 83 tests
Arrhythmogenic right ventricular cardiomyopathy, type 92 tests
Arts syndrome1 test
Atrial septal defect 22 tests
Atrial septal defect 7 with or without atrioventricular conduction defects2 tests
Atrioventricular septal defect 42 tests
Autosomal recessive centronuclear myopathy3 tests
Autosomal recessive cutis laxa type 1B2 tests
Autosomal recessive cutis laxa type IA2 tests
Baraitser-Winter Syndrome 21 test
Bartter syndrome type 41 test
Benign scapuloperoneal muscular dystrophy with cardiomyopathy4 tests
Branchiootic syndrome3 tests
Bronchiectasis2 tests
Bronchiectasis with or without elevated sweat chloride 22 tests
Bronchiectasis with or without elevated sweat chloride 32 tests
Cardio-facio-cutaneous syndrome1 test
Cardiofaciocutaneous syndrome 21 test
Cardiofaciocutaneous syndrome 31 test
Cardiofaciocutaneous syndrome 41 test
Cardiomyopathy dilated with woolly hair and keratoderma3 tests
Cardiomyopathy, dilated, 2b2 tests
Catecholaminergic polymorphic ventricular tachycardia2 tests
Charcot-Marie-Tooth disease, X-linked recessive, type 51 test
Chronic obstructive pulmonary disease2 tests
Chudley-McCullough syndrome1 test
Ciliary dyskinesia, primary, 102 tests
Ciliary dyskinesia, primary, 112 tests
Ciliary dyskinesia, primary, 122 tests
Ciliary dyskinesia, primary, 132 tests
Ciliary dyskinesia, primary, 142 tests
Ciliary dyskinesia, primary, 152 tests
Ciliary dyskinesia, primary, 162 tests
Ciliary dyskinesia, primary, 32 tests
Ciliary dyskinesia, primary, 62 tests
Ciliary dyskinesia, primary, 72 tests
Ciliary dyskinesia, primary, 92 tests
Congenital central hypoventilation2 tests
Congenital muscular dystrophy, LMNA-related4 tests
Conotruncal heart malformations2 tests
Costello syndrome2 tests
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities2 tests
Cutis laxa, autosomal dominant3 tests
Cutis laxa, autosomal dominant 22 tests
Cystic fibrosis2 tests
DFNA 2 Nonsyndromic Hearing Loss1 test
Danon disease5 tests
Deafness, X-linked 22 tests
Deafness, autosomal dominant 11 test
Deafness, autosomal dominant 101 test
Deafness, autosomal dominant 113 tests
Deafness, autosomal dominant 121 test
Deafness, autosomal dominant 131 test
Deafness, autosomal dominant 151 test
Deafness, autosomal dominant 201 test
Deafness, autosomal dominant 222 tests
Deafness, autosomal dominant 251 test
Deafness, autosomal dominant 281 test
Deafness, autosomal dominant 2b1 test
Deafness, autosomal dominant 362 tests
Deafness, autosomal dominant 3a4 tests
Deafness, autosomal dominant 41 test
Deafness, autosomal dominant 441 test
Deafness, autosomal dominant 481 test
Deafness, autosomal dominant 51 test
Deafness, autosomal dominant 501 test
Deafness, autosomal dominant 92 tests
Deafness, autosomal dominant nonsyndromic sensorineural 171 test
Deafness, autosomal recessive 123 tests
Deafness, autosomal recessive 151 test
Deafness, autosomal recessive 161 test
Deafness, autosomal recessive 184 tests
Deafness, autosomal recessive 1A6 tests
Deafness, autosomal recessive 1b2 tests
Deafness, autosomal recessive 23 tests
Deafness, autosomal recessive 221 test
Deafness, autosomal recessive 234 tests
Deafness, autosomal recessive 241 test
Deafness, autosomal recessive 251 test
Deafness, autosomal recessive 281 test
Deafness, autosomal recessive 291 test
Deafness, autosomal recessive 31 test
Deafness, autosomal recessive 301 test
Deafness, autosomal recessive 313 tests
Deafness, autosomal recessive 351 test
Deafness, autosomal recessive 36, with or without vestibular involvement1 test
Deafness, autosomal recessive 372 tests
Deafness, autosomal recessive 391 test
Deafness, autosomal recessive 421 test
Deafness, autosomal recessive 491 test
Deafness, autosomal recessive 531 test
Deafness, autosomal recessive 593 tests
Deafness, autosomal recessive 62 tests
Deafness, autosomal recessive 631 test
Deafness, autosomal recessive 671 test
Deafness, autosomal recessive 72 tests
Deafness, autosomal recessive 741 test
Deafness, autosomal recessive 771 test
Deafness, autosomal recessive 791 test
Deafness, autosomal recessive 82 tests
Deafness, autosomal recessive 93 tests
Deafness, autosomal recessive 911 test
Deafness, high-frequency sensorineural, X-linked1 test
Deafness, nonsyndromic sensorineural, mitochondrial2 tests
Diabetes mellitus AND insipidus with optic atrophy AND deafness2 tests
Diabetes mellitus type 22 tests
Dilated cardiomyopathy 1A4 tests
Dilated cardiomyopathy 1AA3 tests
Dilated cardiomyopathy 1BB2 tests
Dilated cardiomyopathy 1C3 tests
Dilated cardiomyopathy 1CC3 tests
Dilated cardiomyopathy 1DD2 tests
Dilated cardiomyopathy 1E3 tests
Dilated cardiomyopathy 1EE1 test
Dilated cardiomyopathy 1FF3 tests
Dilated cardiomyopathy 1G3 tests
Dilated cardiomyopathy 1HH2 tests
Dilated cardiomyopathy 1I3 tests
Dilated cardiomyopathy 1II1 test
Dilated cardiomyopathy 1JJ1 test
Dilated cardiomyopathy 1L2 tests
Dilated cardiomyopathy 1M3 tests
Dilated cardiomyopathy 1N2 tests
Dilated cardiomyopathy 1O2 tests
Dilated cardiomyopathy 1P3 tests
Dilated cardiomyopathy 1R4 tests
Dilated cardiomyopathy 1S5 tests
Dilated cardiomyopathy 1T1 test
Dilated cardiomyopathy 1W3 tests
Dilated cardiomyopathy 1Y3 tests
Dilated cardiomyopathy 1Z3 tests
Dilated cardiomyopathy 2A3 tests
Distal myopathy Markesbery-Griggs type3 tests
Dyskeratosis congenita autosomal dominant3 tests
Dyskeratosis congenita, autosomal dominant, 23 tests
Ectopia lentis, isolated, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 1, X-linked3 tests
Enlarged vestibular aqueduct syndrome2 tests
Epidermolysis bullosa, lethal acantholytic1 test
Fabry's disease2 tests
Familial hypertrophic cardiomyopathy 15 tests
Familial hypertrophic cardiomyopathy 102 tests
Familial hypertrophic cardiomyopathy 114 tests
Familial hypertrophic cardiomyopathy 123 tests
Familial hypertrophic cardiomyopathy 133 tests
Familial hypertrophic cardiomyopathy 141 test
Familial hypertrophic cardiomyopathy 153 tests
Familial hypertrophic cardiomyopathy 162 tests
Familial hypertrophic cardiomyopathy 183 tests
Familial hypertrophic cardiomyopathy 24 tests
Familial hypertrophic cardiomyopathy 203 tests
Familial hypertrophic cardiomyopathy 33 tests
Familial hypertrophic cardiomyopathy 44 tests
Familial hypertrophic cardiomyopathy 64 tests
Familial hypertrophic cardiomyopathy 73 tests
Familial hypertrophic cardiomyopathy 82 tests
Familial hypertrophic cardiomyopathy 93 tests
Familial medullary thyroid carcinoma2 tests
Familial restrictive cardiomyopathy 13 tests
Familial restrictive cardiomyopathy 34 tests
Focal segmental glomerulosclerosis 4, susceptibility to1 test
Glycogen storage disease of heart, lethal congenital4 tests
Hereditary hemorrhagic telangiectasia type 22 tests
Hereditary myopathy with early respiratory failure3 tests
Hermansky Pudlak syndrome 23 tests
Hermansky-Pudlak syndrome 13 tests
Hermansky-Pudlak syndrome 33 tests
Hermansky-Pudlak syndrome 43 tests
Hermansky-Pudlak syndrome 53 tests
Hermansky-Pudlak syndrome 63 tests
Hermansky-Pudlak syndrome 73 tests
Hermansky-Pudlak syndrome 83 tests
Hermansky-Pudlak syndrome 93 tests
Hidrotic ectodermal dysplasia syndrome1 test
Hypercholanemia, familial1 test
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive1 test
Hyperimmunoglobulin E syndrome1 test
Hypohidrotic X-linked ectodermal dysplasia2 tests
Hypoplastic left heart syndrome 22 tests
Hypothyroidism, congenital, nongoitrous, 52 tests
Idiopathic fibrosing alveolitis, chronic form3 tests
Idiopathic hypereosinophilic syndrome1 test
Jensen syndrome1 test
Jervell and Lange-Nielsen syndrome1 test
Jervell and Lange-Nielsen syndrome 21 test
KERATOSIS PALMOPLANTARIS STRIATA II1 test
Kartagener syndrome2 tests
Keratitis-ichthyosis-deafness syndrome, autosomal dominant4 tests
Keratoderma palmoplantar deafness4 tests
LEOPARD syndrome 11 test
LEOPARD syndrome 21 test
LEOPARD syndrome 31 test
Left ventricular noncompaction 12 tests
Left ventricular noncompaction 104 tests
Left ventricular noncompaction 64 tests
Legius syndrome1 test
Limb-girdle muscular dystrophy, type 1B4 tests
Limb-girdle muscular dystrophy, type 1C1 test
Limb-girdle muscular dystrophy, type 2F2 tests
Limb-girdle muscular dystrophy, type 2G2 tests
Limb-girdle muscular dystrophy, type 2J3 tests
Loeys-Dietz syndrome 11 test
Loeys-Dietz syndrome type 1B1 test
Loeys-Dietz syndrome type 2A1 test
Loeys-Dietz syndrome type 2B1 test
Lymphangiomyomatosis2 tests
MASS syndrome2 tests
Macrothrombocytopenia and progressive sensorineural deafness1 test
Marfan's syndrome3 tests
Mohr-Tranebjaerg syndrome1 test
Multiple endocrine neoplasia, type 2a2 tests
Multiple endocrine neoplasia, type 2b2 tests
Multiple fibrofolliculomas2 tests
Muscular dystrophy, limb-girdle, type 2r3 tests
Mutilating keratoderma4 tests
Myofibrillar myopathy 13 tests
Myofibrillar myopathy, BAG3-related2 tests
Myofibrillar myopathy, ZASP-related3 tests
Myopathy, distal, 15 tests
Myopathy, early-onset, with fatal cardiomyopathy3 tests
Myopathy, myosin storage5 tests
Naxos disease2 tests
Nonsyndromic hearing loss and deafness1 test
Noonan syndrome 11 test
Noonan syndrome 31 test
Noonan syndrome 41 test
Noonan syndrome 51 test
Noonan syndrome 61 test
Noonan syndrome 71 test
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1 test
Noonan-like syndrome with loose anagen hair1 test
Osler hemorrhagic telangiectasia syndrome2 tests
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 13 tests
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 23 tests
Paragangliomas 14 tests
Paragangliomas 23 tests
Paragangliomas 34 tests
Paragangliomas 44 tests
Pendred's syndrome2 tests
Pheochromocytoma3 tests
Phosphoribosylpyrophosphate synthetase superactivity1 test
Primary dilated cardiomyopathy2 tests
Primary familial hypertrophic cardiomyopathy1 test
Primary pulmonary hypertension2 tests
Primary pulmonary hypertension 22 tests
Pulmonary Surfactant Metabolism Dysfunction3 tests
Pulmonary veno-occlusive disease2 tests
Renal tubular acidosis with progressive nerve deafness1 test
Rippling muscle disease1 test
Scapuloperoneal myopathy, MYH7-related5 tests
Shprintzen-Goldberg syndrome1 test
Skin fragility woolly hair syndrome1 test
Stickler syndrome, type 31 test
Supravalvar aortic stenosis1 test
Surfactant metabolism dysfunction, pulmonary, 13 tests
Surfactant metabolism dysfunction, pulmonary, 23 tests
Surfactant metabolism dysfunction, pulmonary, 33 tests
Surfactant metabolism dysfunction, pulmonary, 43 tests
Tetralogy of Fallot3 tests
Thoracic aortic aneurysms and aortic dissections2 tests
Tooth agenesis, selective, X-linked, 11 test
Tuberous sclerosis 12 tests
Tuberous sclerosis 22 tests
Usher syndrome, type 13 tests
Usher syndrome, type 1C4 tests
Usher syndrome, type 1D3 tests
Usher syndrome, type 1F4 tests
Usher syndrome, type 1G3 tests
Usher syndrome, type 2A4 tests
Usher syndrome, type 2C3 tests
Usher syndrome, type 2D3 tests
Usher syndrome, type 35 tests
Ventricular septal defect 12 tests
Ventricular septal defect 32 tests
Ventricular tachycardia, catecholaminergic polymorphic, 23 tests
Von Hippel-Lindau syndrome2 tests
WFS1-Related Disorders2 tests
Weill-Marchesani syndrome 21 test
Wolff-Parkinson-White pattern4 tests
Wolfram-like syndrome, autosomal dominant2 tests
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