| RS2471021109 |
SLC25A20
|
Health Risk |
Likely pathogenic |
Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2471021115 |
SLC25A20
|
Health Risk |
Pathogenic |
Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |
| RS2471021164 |
TRIM71
|
Health Risk |
Likely pathogenic |
TRIM71-related disorder, TRIM71-related disorder |
| RS2471021176 |
SLC25A20
|
Health Risk |
Likely pathogenic |
Carnitine acylcarnitine translocase deficiency, SLC25A20-related disorder |
| RS2471023807 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2471024175 |
ATP2B2
|
Health Risk |
Pathogenic |
— |
| RS2471025366 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2471027512 |
CACNA2D2
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS2471027650 |
CACNA2D2
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS2471028503 |
CACNA2D2
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS2471029525 |
CACNA2D2
|
Health Risk |
Pathogenic |
Cerebellar atrophy with seizures and variable developmental delay, Cerebellar atrophy with seizures and variable developmental delay |
| RS2471029911 |
CACNA2D2
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS2471032992 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2471034166 |
TRIP12
|
Health Risk |
Likely pathogenic |
Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS2471035397 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2471036803 |
TTN
|
Health Risk |
Likely pathogenic |
TTN-related disorder, Dilated cardiomyopathy 1G |
| RS2471038111 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2471038184 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2471039440 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2471039916 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2471041398 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2471041870 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2471047057 |
MLH1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2471048062 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2471048182 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2471048212 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2471049007 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2471049378 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colon cancer |
| RS2471049473 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2471049630 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2471050452 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS2471050696 |
FLNB
|
Health Risk |
Pathogenic |
— |
| RS2471051807 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS2471052270 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2471052394 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS2471052718 |
MLH1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2471053107 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2471053837 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2471053951 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2471054040 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2471054136 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2471054265 |
MLH1
|
Health Risk |
Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2471054354 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2471056141 |
UNC80
|
Health Risk |
Pathogenic |
— |
| RS2471056367 |
MLH1
|
Health Risk |
Likely pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2471056444 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2471060288 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2471063371 |
FLNB
|
Health Risk |
Likely pathogenic |
— |
| RS2471063377 |
UNC80
|
Health Risk |
Pathogenic |
— |
| RS2471063394 |
CACNA2D2
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS2471063455 |
UNC80
|
Health Risk |
Pathogenic |
— |
| RS2471064085 |
FLNB
|
Health Risk |
Pathogenic |
— |
| RS2471064241 |
FLNB
|
Health Risk |
Pathogenic |
— |
| RS2471069909 |
FLNB
|
Health Risk |
Likely pathogenic |
— |
| RS2471072801 |
FLNB
|
Health Risk |
Pathogenic |
— |
| RS2471078472 |
UNC80
|
Health Risk |
Likely pathogenic |
— |
| RS2471081688 |
FLNB
|
Health Risk |
Likely pathogenic |
— |
| RS2471084696 |
GLYCTK
|
Health Risk |
Pathogenic |
— |
| RS2471092923 |
FLNB
|
Health Risk |
Likely pathogenic |
— |
| RS2471093119 |
FLNB
|
Health Risk |
Pathogenic |
— |
| RS2471094850 |
PRKCD
|
Health Risk |
Likely pathogenic |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD |
| RS2471098846 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2471099139 |
PRKCD
|
Health Risk |
Pathogenic |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD |
| RS2471101226 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2471101614 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2471105635 |
UNC80
|
Health Risk |
Pathogenic |
— |
| RS2471106746 |
PRKCD
|
Health Risk |
Likely pathogenic |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD |
| RS2471110676 |
FLNB
|
Health Risk |
Likely pathogenic |
Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome |
| RS2471110969 |
FLNB
|
Health Risk |
Likely pathogenic |
— |
| RS2471114728 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2471115296 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2471115496 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2471115561 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2471115787 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2471116589 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2471116702 |
FLNB
|
Health Risk |
Pathogenic |
— |
| RS2471116726 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2471116958 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2471117951 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2471118144 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2471118338 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2471118448 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2471118602 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2471118677 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2471118927 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2471119004 |
UNC80
|
Health Risk |
Likely pathogenic |
— |
| RS2471119084 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2471119196 |
UNC80
|
Health Risk |
Pathogenic |
— |
| RS2471119271 |
UNC80
|
Health Risk |
Likely pathogenic |
— |
| RS2471119792 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2471120383 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2471120878 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2471120957 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2471121537 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2471121904 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS2471121964 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2471122096 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2471122267 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2471122926 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2471123248 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |