| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Catecholaminergic polymorphic ventricular tachycardia 1 |
Uncertain significance |
rs766818029 |
RCV000208175 |
| DMPK-related disorder |
Benign; Likely benign |
rs527221, rs147014815, rs182565629, rs143006643, rs771536499, rs147815859, rs1349414063, rs1969449509, rs113426968, rs140685882, rs140030942, rs766547162, rs201332435, rs142936719, rs78771765 |
RCV003975018 RCV003929788 RCV003904047 RCV003914109 RCV003944135 RCV003961805 RCV003963917 RCV003949678 RCV003947141 RCV003949434 RCV003936871 RCV003946851 RCV003934649 RCV003971804 RCV003915686 |
| Familial cancer of breast |
Benign |
rs1799894 |
RCV005888053 |
| Gastric cancer |
Likely benign; Uncertain significance |
rs143006643, rs199731275 |
RCV005936906 RCV005937444 |
| Hepatocellular carcinoma |
Benign |
rs1799894 |
RCV005888054 |
| Myotonic dystrophy |
Likely benign; Uncertain significance |
rs78771765, rs747348407, rs536277584 |
RCV000590940 RCV000590931 RCV000662180 |
| Noonan syndrome |
Uncertain significance |
rs752437441 |
RCV000208532 |
| Steinert myotonic dystrophy syndrome |
Benign; Uncertain significance; Likely benign |
rs1799894, rs1403210034, rs192671827, rs200491028, rs530588467, rs149990515, rs750614096, rs200760629, rs780659624, rs1003871860, rs762280354, rs1310210930, rs1600444823 |
RCV000610817 RCV003146180 RCV003146181 RCV003146182 RCV003146183 RCV003146184 RCV003146185 RCV003146186 RCV000415714 RCV000626249 RCV000714720 RCV000785076 RCV000791205 |
|
| Disease Name |
Relationship Type |
References |
| Adrenal Insufficiency |
Associate |
16376058 |
| Arrhythmias Cardiac |
Associate |
27182706 |
| Autistic Disorder |
Associate |
32717741 |
| CANVAS syndrome |
Associate |
40113266 |
| Cardiomyopathies |
Associate |
27182706 |
| Cardiomyopathy Dilated |
Associate |
23349452 |
| Cataract |
Associate |
10434869 |
| Disease |
Associate |
34372915 |
| Dystonia |
Associate |
21868014 |
| Fasciculation |
Associate |
12598332 |
| Hearing Loss |
Associate |
19321466 |
| Heart Diseases |
Associate |
25958258 |
| Heart Septal Defects Atrial |
Associate |
17652903 |
| Insulinoma |
Associate |
10411358 |
| Muscle Hypotonia |
Associate |
27353517 |
| Muscular Atrophy |
Associate |
21949239 |
| Muscular Dystrophies |
Associate |
21949239 |
| Muscular Dystrophies Limb Girdle |
Associate |
39232665 |
| Myalgia |
Associate |
21868014 |
| Myocardial Infarction |
Associate |
19321466 |
| Myotonia |
Associate |
33682722 |
| Myotonic Dystrophy |
Associate |
10434869, 11433021, 12150906, 12718910, 12970845, 14627806, 14730559, 15114529, 15185171, 15489504, 15546872, 15576360, 15722335, 15750273, 16027111, 16376058, 16487687, 17825047, 19321466, 19546810, 20171614, 20228473, 21868014, 21949239, 22218462, 22643181, 23025897, 23159592, 23166594, 23680132, 23853500, 24440524, 24781112, 24824895, 25684273, 25702800, 26036855, 26190529, 26708183, 26756355, 26919350, 27222292, 27253733, 27346000, 27346009, 27733504, 27854230, 27876818, 28257691, 28363916, 28435090, 28886202, 29114849, 29274549, 29334465, 29651162, 29947794, 29955039, 29967337, 30216892, 30274788, 30700578, 30760283, 31010208, 31027145, 31048891, 31116797, 31164682, 31220271, 31227653, 31395669, 31608518, 31759551, 31766224, 31965181, 32074227, 32155193, 32203199, 32287265, 32407311, 32607474, 32645888, 32823742, 33472919, 33530452, 33624941, 33682722, 34114984, 34776509, 34915310, 35741732, 35767654, 36011377, 36099027, 36222125, 36352383, 36767649, 36883684, 37373276, 37638448, 37871474, 38050269, 38270551, 39326259, 39373365, 39383229, 39710066, 40004498, 40113266, 40296143, 7726160, 7896884, 8659513, 8948631, 9094985, 9207101, 9207102, 9463318, 9950368 View all (104 more) |
| Myotonic Dystrophy |
Inhibit |
12598332 |
| Neoplastic Syndromes Hereditary |
Associate |
39232665 |
| Neuromuscular Diseases |
Associate |
24269018, 32717741, 9207101 |
| Oncogene Addiction |
Associate |
33077317 |
| Pulmonary Disease Chronic Obstructive |
Associate |
29547942 |
| Sensorimotor neuropathy with ataxia autosomal dominant |
Associate |
19321466 |
| Sick Sinus Syndrome |
Associate |
27182706 |
|