ClinVar Miner

Variants from Phosphorus, Inc.

Location: United States — Primary collection method: clinical testing
Minimum submission review status: Collection method:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
8 6 60 7 40 121

Gene and significance breakdown #

Total genes and gene combinations: 53
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TTN 0 0 10 1 2 13
GAA 0 0 0 0 11 11
MYH7 5 3 3 0 0 11
DMD 0 0 0 0 6 6
AGL 0 0 0 1 4 5
ALMS1 0 1 3 0 1 5
MYBPC3 2 1 2 0 0 5
APOB 0 0 3 1 0 4
FKRP 0 0 1 0 2 3
FLNC 0 0 1 2 0 3
PTPN11 0 0 3 0 0 3
SLC22A5 0 0 0 0 3 3
ANK2 0 0 1 0 1 2
CPT2 0 0 0 0 2 2
DSC2 0 0 2 0 0 2
DSP 0 0 1 0 1 2
MTO1 0 0 2 0 0 2
RYR2 0 0 2 0 0 2
SOS1 0 0 2 0 0 2
TMPO 0 0 2 0 0 2
ABCC9 0 0 0 1 0 1
ACADVL 0 0 0 0 1 1
AKAP9 0 0 1 0 0 1
CBL 0 0 1 0 0 1
CCDC40, GAA 0 0 0 0 1 1
CTNNA3 0 0 1 0 0 1
DES 0 0 1 0 0 1
DSG2 0 0 1 0 0 1
ELAC2 0 0 1 0 0 1
GATA4 0 0 1 0 0 1
GATAD1 0 0 0 0 1 1
HCN4 0 0 0 0 1 1
JPH2 0 0 0 0 1 1
JUP 0 0 0 1 0 1
LAMA4 0 0 1 0 0 1
LDLR 0 0 1 0 0 1
LDLRAP1 0 0 1 0 0 1
MYH6 0 0 0 0 1 1
MYL3 0 1 0 0 0 1
MYPN 0 0 1 0 0 1
NF1 0 0 1 0 0 1
PKP2 0 0 1 0 0 1
SCN10A 0 0 1 0 0 1
SCN1B 0 0 1 0 0 1
SLMAP 0 0 0 0 1 1
SNTA1 0 0 1 0 0 1
SOS2 0 0 1 0 0 1
TNNC1 0 0 1 0 0 1
TNNT2 0 0 1 0 0 1
TPM1 1 0 0 0 0 1
TRPM4 0 0 1 0 0 1
TXNRD2 0 0 1 0 0 1
VCL 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 90
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Distal myopathy Markesbery-Griggs type 0 0 10 1 2 13
Dilated cardiomyopathy 1G 0 0 10 0 2 12
Glycogen storage disease, type II 0 0 0 0 12 12
Limb-girdle muscular dystrophy, type 2J 0 0 10 0 2 12
Familial hypertrophic cardiomyopathy 1 5 3 3 0 0 11
Primary dilated cardiomyopathy 0 0 8 1 0 9
Duchenne muscular dystrophy 0 0 2 0 6 8
Alstrom syndrome 0 1 3 0 1 5
Brugada syndrome 0 0 3 1 1 5
Familial hypertrophic cardiomyopathy 4 2 1 2 0 0 5
Glycogen storage disease type III 0 0 0 1 4 5
Hypobetalipoproteinemia, familial, 1 0 0 3 1 0 4
Cardiomyopathy, familial hypertrophic, 26 0 0 1 2 0 3
Dilated cardiomyopathy 1S 0 0 3 0 0 3
Hypercholesterolemia, autosomal dominant, type B 0 0 3 0 0 3
LEOPARD syndrome 1 0 0 3 0 0 3
Left ventricular noncompaction 0 0 2 0 1 3
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 0 0 1 0 2 3
Metachondromatosis 0 0 3 0 0 3
Myofibrillar myopathy, filamin C-related 0 0 1 2 0 3
Myopathy, distal, 1 0 0 3 0 0 3
Myopathy, distal, 4 0 0 1 2 0 3
Myopathy, myosin storage, autosomal recessive 0 0 3 0 0 3
Myosin storage myopathy 0 0 3 0 0 3
Noonan syndrome 1 0 0 3 0 0 3
Renal carnitine transport defect 0 0 0 0 3 3
Arrhythmogenic right ventricular cardiomyopathy, type 11 0 0 2 0 0 2
Arrhythmogenic right ventricular cardiomyopathy, type 8 0 0 1 0 1 2
Arrhythmogenic right ventricular dysplasia, familial, 2 0 0 2 0 0 2
Becker muscular dystrophy 0 0 2 0 0 2
Cardiac arrhythmia, ankyrin B-related 0 0 1 0 1 2
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 0 0 1 0 1 2
Carnitine palmitoyltransferase II deficiency, infantile; Carnitine palmitoyltransferase II deficiency, lethal neonatal 0 0 0 0 2 2
Catecholaminergic polymorphic ventricular tachycardia type 1 0 0 2 0 0 2
Combined oxidative phosphorylation deficiency 10 0 0 2 0 0 2
Dilated cardiomyopathy 3B 0 0 2 0 0 2
Dilated cardiomyopathy with woolly hair and keratoderma 0 0 1 0 1 2
Hypertrophic cardiomyopathy 0 0 1 1 0 2
Left ventricular noncompaction 10 0 0 2 0 0 2
Noonan syndrome 4 0 0 2 0 0 2
Arrhythmogenic right ventricular cardiomyopathy, type 10 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 12 0 0 0 1 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia, familial, 13 0 0 1 0 0 1
Atrial fibrillation, familial, 13 0 0 1 0 0 1
Atrial septal defect 2 0 0 1 0 0 1
Atrial septal defect 3 0 0 0 0 1 1
Atrioventricular septal defect 4 0 0 1 0 0 1
Brugada syndrome 5 0 0 1 0 0 1
Brugada syndrome 8 0 0 0 0 1 1
Brugada syndrome 9 0 0 1 0 0 1
Cardiomyopathy, dilated, 2b 0 0 0 0 1 1
Combined oxidative phosphorylation deficiency 17 0 0 1 0 0 1
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 0 0 1 0 0 1
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 0 0 1 0 0 1
Dilated cardiomyopathy 1BB 0 0 1 0 0 1
Dilated cardiomyopathy 1EE 0 0 0 0 1 1
Dilated cardiomyopathy 1I 0 0 1 0 0 1
Dilated cardiomyopathy 1JJ 0 0 1 0 0 1
Dilated cardiomyopathy 1KK 0 0 1 0 0 1
Dilated cardiomyopathy 1W 0 0 1 0 0 1
Dilated cardiomyopathy 1Z 0 0 1 0 0 1
Epileptic encephalopathy, early infantile, 52 0 0 1 0 0 1
Familial atrial fibrillation 0 0 1 0 0 1
Familial hypercholesterolemia 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 13 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 14 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 15 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 17 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 2 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 3 1 0 0 0 0 1
Familial hypertrophic cardiomyopathy 8 0 1 0 0 0 1
Familial restrictive cardiomyopathy 3 0 0 1 0 0 1
Generalized epilepsy with febrile seizures plus, type 1 0 0 1 0 0 1
Hypercholesterolemia, autosomal recessive 0 0 1 0 0 1
Hypertrichotic osteochondrodysplasia 0 0 0 1 0 1
Left ventricular noncompaction 6 0 0 1 0 0 1
Long QT syndrome 11 0 0 1 0 0 1
Long QT syndrome 12 0 0 1 0 0 1
Muscular dystrophy, limb-girdle, type 2R 0 0 1 0 0 1
Myofibrillar myopathy 1 0 0 1 0 0 1
Neurofibromatosis, type 1 0 0 1 0 0 1
Noonan syndrome 9 0 0 1 0 0 1
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 0 0 1 0 0 1
Sick sinus syndrome 2, autosomal dominant 0 0 0 0 1 1
Sodium channelopathy-related small fiber neuropathy 0 0 1 0 0 1
Spinocerebellar ataxia 19 0 0 1 0 0 1
Tetralogy of Fallot 0 0 1 0 0 1
Ventricular septal defect 1 0 0 1 0 0 1
Very long chain acyl-CoA dehydrogenase deficiency 0 0 0 0 1 1

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