|
TPM2
(HGNC:12011)
|
arthrogryposis, distal, type 1A
(MONDO_0007157)
|
Moderate
|
|
|
TPM1
(HGNC:12010)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Limited
|
|
|
TPM1
(HGNC:12010)
|
left ventricular noncompaction
(MONDO_0018901)
|
Moderate
|
|
|
TPI1
(HGNC:12009)
|
triosephosphate isomerase deficiency
(MONDO_0014221)
|
Strong
|
|
|
ACOX1
(HGNC:119)
|
Mitchell syndrome
(MONDO_0030073)
|
Moderate
|
|
|
ACOX1
(HGNC:119)
|
peroxisomal acyl-CoA oxidase deficiency
(MONDO_0009919)
|
Strong
|
|
|
TP53
(HGNC:11998)
|
Li-Fraumeni syndrome
(MONDO_0018875)
|
Definitive
|
|
|
MED12
(HGNC:11957)
|
cholestasis-pigmentary retinopathy-cleft palate syndrome
(MONDO_0012997)
|
Strong
|
|
|
TP53
(HGNC:11998)
|
choroid plexus carcinoma
(MONDO_0016718)
|
Strong
|
|
|
TP53
(HGNC:11998)
|
breast cancer
(MONDO_0007254)
|
Definitive
|
|
|
TP53
(HGNC:11998)
|
colorectal cancer
(MONDO_0005575)
|
Strong
|
|
|
TP53
(HGNC:11998)
|
sarcoma
(MONDO_0005089)
|
Definitive
|
|
|
TOP2B
(HGNC:11990)
|
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
(MONDO_0012243)
|
Limited
|
|
|
TOP2B
(HGNC:11990)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
CNPY3
(HGNC:11968)
|
West syndrome
(MONDO_0018097)
|
Moderate
|
|
|
MED12
(HGNC:11957)
|
X-linked intellectual disability with marfanoid habitus
(MONDO_0010655)
|
Moderate
|
|
|
EP400
(HGNC:11958)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|
|
MED12
(HGNC:11957)
|
blepharophimosis - intellectual disability syndrome, MKB type
(MONDO_0010477)
|
Moderate
|
|
|
TNNT3
(HGNC:11950)
|
nemaline myopathy
(MONDO_0018958)
|
Moderate
|
|
|
TNNT2
(HGNC:11949)
|
left ventricular noncompaction
(MONDO_0018901)
|
Limited
|
|