AR Results

RYR2

ryanodine receptor 2
07/19/2019

PCSK9

proprotein convertase subtilisin/kexin type 9
11/14/2018

ARG1

arginase 1
06/29/2020

SMARCA4

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
01/07/2019

ARHGEF6

Rac/Cdc42 guanine nucleotide exchange factor 6
10/10/2018

NSD1

nuclear receptor binding SET domain protein 1
08/13/2019

ARID1B

AT-rich interaction domain 1B
12/04/2019

SGCG

sarcoglycan gamma
04/14/2020

FXN

frataxin
10/16/2018

FARS2

phenylalanyl-tRNA synthetase 2, mitochondrial
11/25/2019

AARS

alanyl-tRNA synthetase
11/20/2018

ARHGEF9

Cdc42 guanine nucleotide exchange factor 9
11/21/2019

KARS

lysyl-tRNA synthetase
10/17/2018

CDKN2A

cyclin dependent kinase inhibitor 2A
08/14/2019

ARX

aristaless related homeobox
12/05/2019

EARS2

glutamyl-tRNA synthetase 2, mitochondrial
03/19/2020

BARD1

BRCA1 associated RING domain 1
08/09/2017

BSND

barttin CLCNK type accessory beta subunit
07/12/2018

SMARCB1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
08/22/2019

MARVELD2

MARVEL domain containing 2
10/16/2018

hypertrophic cardiomyopathy

MONDO_0005045 Condition
Obstructive hypertrophic cardiomyopathy
05/01/2020

hereditary breast carcinoma

MONDO_0016419 Condition
Hereditary Breast Carcinoma
01/10/2018

familial ovarian cancer

MONDO_0016248 Condition
Familial ovarian malignant tumor
01/10/2018

09/13/2019

cardiofaciocutaneous syndrome

MONDO_0015280 Condition
CFC syndrome
06/27/2019

hereditary nonpolyposis colon cancer

MONDO_0018630 Condition
Familial nonpolyposis colon cancer
10/12/2018

undetermined early-onset epileptic encephalopathy

MONDO_0018614 Condition
Undetermined EOEE
01/17/2019

early infantile epileptic encephalopathy

MONDO_0016021 Condition
Early Infantile Epileptic Encephalopathy with Burst-Suppression
05/19/2020

autosomal recessive limb-girdle muscular dystrophy

MONDO_0015152 Condition
limb-girdle muscular dystrophy, autosomal recessive
05/01/2020

Bernard-Soulier syndrome

MONDO_0009276 Condition
Giant platelet syndrome
05/27/2020

aneurysm-osteoarthritis syndrome

MONDO_0013426 Condition
Loeys-Dietz Syndrome type 3
08/22/2019

hereditary diffuse gastric adenocarcinoma

MONDO_0007648 Condition
Hereditary Diffuse Gastric Cancer
04/10/2020

nevoid basal cell carcinoma syndrome

MONDO_0007187 Condition
Nevoid basal cell carcinoma syndrome
08/13/2019

Marfan syndrome

MONDO_0007947 Condition
MFS1
12/04/2019

hereditary leiomyomatosis and renal cell cancer

MONDO_0007888 Condition
Familial leiomyomatosis and renal cell cancer
05/14/2020

08/28/2019

ornithine carbamoyltransferase deficiency

MONDO_0010703 Condition
Ornithine carbamoyltransferase deficiency
10/29/2019

hypertrophic cardiomyopathy 10

MONDO_0012112 Condition
Cardiomyopathy, Familial Hypertrophic, type 10
01/11/2018

hyperargininemia

MONDO_0008814 Condition
deficiency of canavanase
06/29/2020

06/01/2017

Ferrous fumarate 189 MG

RXNORM:852774 Drug

Aloe vera preparation 470 MG

RXNORM:577867 Drug