| RS1575466699 |
COL7A1
|
Health Risk |
Pathogenic |
Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica |
| RS1575466995 |
SETD5
|
Health Risk |
Pathogenic |
— |
| RS1575467199 |
COL7A1
|
Health Risk |
Pathogenic |
Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa |
| RS1575467723 |
SETD5
|
Health Risk |
Likely pathogenic |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| RS1575467870 |
SETD5
|
Health Risk |
Pathogenic |
— |
| RS1575469070 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer |
| RS1575469505 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1575470363 |
COL7A1
|
Health Risk |
Pathogenic |
Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa |
| RS1575471281 |
GLB1
|
Health Risk |
Likely pathogenic |
Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis |
| RS1575472038 |
GLB1
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-IV-B |
| RS1575472601 |
SETD5
|
Health Risk |
Pathogenic |
— |
| RS1575472646 |
SETD5
|
Health Risk |
Pathogenic |
— |
| RS1575472776 |
COL7A1
|
Health Risk |
Pathogenic |
— |
| RS1575475545 |
SETD5
|
Health Risk |
Pathogenic |
— |
| RS1575475703 |
GLB1
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-IV-B |
| RS1575475764 |
SETD5
|
Health Risk |
Pathogenic |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| RS1575476280 |
COL7A1
|
Health Risk |
Pathogenic |
Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica |
| RS1575480253 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1575481094 |
MLH1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1575481212 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1575482936 |
COLQ
|
Health Risk |
Pathogenic |
Abnormality of the musculature, Abnormality of the musculature |
| RS1575490093 |
COL7A1
|
Health Risk |
Likely pathogenic |
— |
| RS1575492483 |
COL7A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica |
| RS1575494051 |
COL7A1
|
Health Risk |
Pathogenic |
Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa |
| RS1575494302 |
RFT1
|
Health Risk |
Pathogenic |
RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation |
| RS1575495784 |
COL7A1
|
Health Risk |
Pathogenic |
Epidermolysis bullosa, pretibial |
| RS1575496158 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, hereditary nonpolyposis |
| RS1575496354 |
DNASE1L3
|
Health Risk |
Pathogenic |
Autosomal systemic lupus erythematosus type 16, Autosomal systemic lupus erythematosus type 16 |
| RS1575497576 |
DNASE1L3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal systemic lupus erythematosus type 16, Autosomal systemic lupus erythematosus type 16 |
| RS1575508554 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1575508937 |
SETD5
|
Health Risk |
Likely pathogenic |
Polymicrogyria, Polymicrogyria |
| RS1575509263 |
RFT1
|
Health Risk |
Likely pathogenic |
— |
| RS1575512482 |
TTN
|
Health Risk |
Pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS1575514028 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS1575514086 |
KIF1A
|
Health Risk |
Pathogenic |
Neuropathy, hereditary sensory |
| RS1575517577 |
HYAL1
|
Health Risk |
Pathogenic |
Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS1575518825 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS1575519034 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS1575522892 |
PTH1R
|
Health Risk |
Likely pathogenic |
Primary failure of tooth eruption, Primary failure of tooth eruption |
| RS1575524795 |
PTH1R
|
Health Risk |
Pathogenic |
Primary failure of tooth eruption, Primary failure of tooth eruption |
| RS1575526216 |
LAMB2
|
Health Risk |
Conflicting classifications of pathogenicity |
LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome |
| RS1575527152 |
LAMB2
|
Health Risk |
Likely pathogenic |
Ovarian serous cystadenocarcinoma, LAMB2-related infantile-onset nephrotic syndrome |
| RS1575529262 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1575534208 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Dilated cardiomyopathy 1G |
| RS1575534947 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1575535878 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1575535938 |
MLH1
|
Health Risk |
Pathogenic |
— |
| RS1575536219 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS1575536254 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1575536698 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1575536889 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1575536935 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1575537843 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer |
| RS1575537933 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1575540533 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1575544917 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS1575547155 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1575551371 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS1575552157 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch-like syndrome |
| RS1575552976 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1575553528 |
RARB
|
Health Risk |
Likely pathogenic |
Microphthalmia, syndromic 12 |
| RS1575553547 |
RARB
|
Health Risk |
Pathogenic/Likely pathogenic |
Microphthalmia, syndromic 12 |
| RS1575554246 |
MLH1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1575562076 |
NPRL2
|
Health Risk |
Likely pathogenic |
Epilepsy, familial focal |
| RS1575573204 |
RAF1
|
Health Risk |
Conflicting classifications of pathogenicity |
RASopathy, Cardiovascular phenotype |
| RS1575573330 |
RAF1
|
Health Risk |
Likely pathogenic |
LEOPARD syndrome 2, LEOPARD syndrome 2 |
| RS1575576927 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1575578837 |
CACNA2D2
|
Health Risk |
Pathogenic |
Cerebellar atrophy with seizures and variable developmental delay, Cerebellar atrophy with seizures and variable developmental delay |
| RS1575580823 |
CACNA2D2
|
Health Risk |
Pathogenic |
Cerebellar atrophy with seizures and variable developmental delay, Cerebellar atrophy with seizures and variable developmental delay |
| RS1575583160 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1575584918 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1575587120 |
KIF1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 30, Intellectual disability |
| RS1575588483 |
NEK10
|
Health Risk |
Pathogenic |
Ciliary dyskinesia, primary |
| RS1575592157 |
NBEAL2
|
Health Risk |
Pathogenic |
Gray platelet syndrome, Gray platelet syndrome |
| RS1575592653 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1575594377 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1575600733 |
KIF1A
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30 |
| RS1575600969 |
ABHD5
|
Health Risk |
Pathogenic |
Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS1575601202 |
CACNA2D2
|
Health Risk |
Likely pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS1575603394 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS1575603683 |
CACNA2D2
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS1575604997 |
CACNA2D2
|
Health Risk |
Likely pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS1575607298 |
ABHD5
|
Health Risk |
Pathogenic |
Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS1575608312 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS1575610911 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS1575611108 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1575612023 |
NGLY1
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital disorder of deglycosylation, Congenital disorder of deglycosylation |
| RS1575612435 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1575614351 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1575614945 |
NGLY1
|
Health Risk |
Pathogenic |
Congenital disorder of deglycosylation, Congenital disorder of deglycosylation |
| RS1575616394 |
NGLY1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Congenital disorder of deglycosylation |
| RS1575616801 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS1575619957 |
NBEAL2
|
Health Risk |
Likely pathogenic |
Gray platelet syndrome, Gray platelet syndrome |
| RS1575620443 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer |
| RS1575621386 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1575621506 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer |
| RS1575622147 |
NGLY1
|
Health Risk |
Likely pathogenic |
— |
| RS1575622163 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1575623114 |
NBEAL2
|
Health Risk |
Pathogenic |
Gray platelet syndrome, Gray platelet syndrome |
| RS1575623612 |
TTN
|
Health Risk |
Likely pathogenic |
— |