| RS1575285509 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Primary dilated cardiomyopathy |
| RS1575286728 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1575289366 |
LARS2
|
Health Risk |
Likely pathogenic |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome |
| RS1575292827 |
LARS2
|
Health Risk |
Likely pathogenic |
Perrault syndrome 4, Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome |
| RS1575292873 |
TREX1
|
Health Risk |
Likely pathogenic |
Chilblain lupus, Systemic lupus erythematosus |
| RS1575293252 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1575293518 |
TREX1
|
Health Risk |
Pathogenic |
Aicardi-Goutieres syndrome 1, Aicardi-Goutieres syndrome 1 |
| RS1575294269 |
TREX1
|
Health Risk |
Likely pathogenic |
— |
| RS1575295176 |
TREX1
|
Health Risk |
Likely pathogenic |
Aicardi-Goutieres syndrome 1, Aicardi-Goutieres syndrome 1 |
| RS1575295628 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1575297292 |
GMPPB
|
Health Risk |
Conflicting classifications of pathogenicity |
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 |
| RS1575300582 |
NEB
|
Health Risk |
Pathogenic |
— |
| RS1575303218 |
AMT
|
Health Risk |
Pathogenic |
Glycine encephalopathy, Glycine encephalopathy |
| RS1575305566 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1575305901 |
AMT
|
Health Risk |
Pathogenic |
Glycine encephalopathy, Glycine encephalopathy |
| RS1575308129 |
AMT
|
Health Risk |
Likely pathogenic |
Glycine encephalopathy, Glycine encephalopathy |
| RS1575308774 |
LARS2
|
Health Risk |
Likely pathogenic |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome |
| RS1575308833 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS1575308888 |
AMT
|
Health Risk |
Pathogenic |
Glycine encephalopathy, Glycine encephalopathy |
| RS1575309867 |
AMT
|
Health Risk |
Pathogenic |
Glycine encephalopathy, Glycine encephalopathy |
| RS1575311499 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1575315766 |
CTNNB1
|
Health Risk |
Pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS1575316657 |
CTNNB1
|
Health Risk |
Pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS1575317915 |
CTNNB1
|
Health Risk |
Pathogenic |
— |
| RS1575320216 |
CTNNB1
|
Health Risk |
Pathogenic |
Hepatocellular carcinoma, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS1575324979 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1575325335 |
LOC126806420;TTN;TTN-AS1
|
Health Risk |
Likely pathogenic |
— |
| RS1575328856 |
CTNNB1
|
Health Risk |
Pathogenic |
— |
| RS1575329479 |
CTNNB1
|
Health Risk |
Pathogenic |
— |
| RS1575330336 |
CTNNB1
|
Health Risk |
Likely pathogenic |
Hepatocellular carcinoma, Hepatocellular carcinoma |
| RS1575333081 |
CTNNB1
|
Health Risk |
Pathogenic |
Intellectual disability, Intellectual disability |
| RS1575334103 |
CTNNB1
|
Health Risk |
Pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS1575334396 |
CTNNB1
|
Health Risk |
Pathogenic |
— |
| RS1575334525 |
LCT
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital lactase deficiency, Congenital lactase deficiency |
| RS1575337368 |
CTNNB1
|
Health Risk |
Pathogenic |
— |
| RS1575339920 |
CTNNB1
|
Health Risk |
Likely pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS1575352566 |
D2HGDH
|
Health Risk |
Likely pathogenic |
D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS1575358650 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1575362216 |
TRIM71
|
Health Risk |
Pathogenic |
Hydrocephalus, congenital communicating |
| RS1575362239 |
TRIM71
|
Health Risk |
Likely pathogenic |
Congenital hydrocephalus, Congenital hydrocephalus |
| RS1575362492 |
TRIM71
|
Health Risk |
Pathogenic |
Hydrocephalus, congenital communicating |
| RS1575369255 |
FYCO1
|
Health Risk |
Pathogenic |
Cataract 18, Cataract 18 |
| RS1575372587 |
FYCO1
|
Health Risk |
Pathogenic |
— |
| RS1575373920 |
QRICH1
|
Health Risk |
Pathogenic |
Ververi-Brady syndrome, Ververi-Brady syndrome |
| RS1575376414 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1575376458 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1575376830 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1575377175 |
MLH1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1575386270 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS1575395286 |
MLH1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1575395515 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1575397455 |
ITPR1
|
Health Risk |
Likely pathogenic |
— |
| RS1575409255 |
HECW2
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS1575409311 |
TRIP12
|
Health Risk |
Pathogenic |
— |
| RS1575410340 |
GLB1
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-IV-B |
| RS1575410562 |
DAG1
|
Health Risk |
Likely pathogenic |
— |
| RS1575410881 |
DAG1
|
Health Risk |
Conflicting classifications of pathogenicity |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS1575413885 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1575414321 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1575414387 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1575414831 |
GLB1
|
Health Risk |
Pathogenic |
Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis |
| RS1575414904 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1575415900 |
ANO10
|
Health Risk |
Likely pathogenic |
Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS1575415957 |
GNAT1
|
Health Risk |
Pathogenic |
Retinitis pigmentosa, Retinitis pigmentosa |
| RS1575418015 |
COL7A1
|
Health Risk |
Likely pathogenic |
Pretibial dystrophic epidermolysis bullosa, Epidermolysis bullosa pruriginosa |
| RS1575419803 |
TRIP12
|
Health Risk |
Pathogenic |
Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS1575420160 |
WDPCP
|
Health Risk |
Pathogenic/Likely pathogenic |
Orofaciodigital syndrome, Heart defect - tongue hamartoma - polysyndactyly syndrome |
| RS1575421295 |
SETD5
|
Health Risk |
Likely pathogenic |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| RS1575424399 |
COL7A1
|
Health Risk |
Likely pathogenic |
— |
| RS1575425011 |
COL7A1
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS1575427309 |
SETD5
|
Health Risk |
Pathogenic |
— |
| RS1575427610 |
SETD5
|
Health Risk |
Likely pathogenic |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| RS1575428643 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1575430613 |
SETD5
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| RS1575434262 |
COL7A1
|
Health Risk |
Pathogenic |
Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica |
| RS1575437481 |
COL7A1
|
Health Risk |
Pathogenic |
— |
| RS1575439903 |
COL7A1
|
Health Risk |
Pathogenic |
— |
| RS1575440595 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer |
| RS1575441094 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1575442120 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1575442251 |
COL7A1
|
Health Risk |
Likely pathogenic |
— |
| RS1575442301 |
COL7A1
|
Health Risk |
Pathogenic |
Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa |
| RS1575442816 |
COL7A1
|
Health Risk |
Pathogenic/Likely pathogenic |
7 conditions, 7 conditions |
| RS1575442885 |
COL7A1
|
Health Risk |
Likely pathogenic |
— |
| RS1575446166 |
GAD1
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities |
| RS1575446356 |
MST1R
|
Health Risk |
Likely pathogenic |
Multiple myeloma, Multiple myeloma |
| RS1575448385 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1575449093 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1575449107 |
SETD5
|
Health Risk |
Likely pathogenic |
— |
| RS1575449402 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1575451526 |
GLB1
|
Health Risk |
Likely pathogenic |
Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis |
| RS1575451599 |
GLB1
|
Health Risk |
Conflicting classifications of pathogenicity |
See cases, See cases |
| RS1575453353 |
SETD5
|
Health Risk |
Likely pathogenic |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| RS1575457582 |
FLNB
|
Health Risk |
Pathogenic |
Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome |
| RS1575458625 |
COLQ
|
Health Risk |
Likely pathogenic |
Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS1575459735 |
GLB1
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-IV-B |
| RS1575460231 |
COLQ
|
Health Risk |
Likely pathogenic |
Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS1575461722 |
POMGNT2
|
Health Risk |
Pathogenic/Likely pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a |
| RS1575465207 |
COL7A1
|
Health Risk |
Likely pathogenic |
— |
| RS1575466399 |
SETD5
|
Health Risk |
Pathogenic |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |