| RS1553654190 |
BTD
|
Health Risk |
Conflicting classifications of pathogenicity |
BTD-related disorder, Biotinidase deficiency |
| RS1553654220 |
BTD
|
Health Risk |
Pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS1553654413 |
ITPR1
|
Health Risk |
Pathogenic |
Gillespie syndrome, Gillespie syndrome |
| RS1553655558 |
TRIP12
|
Health Risk |
Pathogenic |
TRIP12 associated autism with facial dysmorphology, TRIP12 associated autism with facial dysmorphology |
| RS1553656383 |
FOXP1
|
Health Risk |
Likely pathogenic |
— |
| RS1553656387 |
FOXP1
|
Health Risk |
Pathogenic |
— |
| RS1553656447 |
NRXN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS1553657378 |
CTLA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Inborn genetic diseases |
| RS1553657387 |
CTLA4
|
Health Risk |
Pathogenic |
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS1553657429 |
CTLA4
|
Health Risk |
Likely pathogenic |
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Celiac disease |
| RS1553657430 |
CTLA4
|
Health Risk |
Pathogenic |
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS1553657971 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1553658009 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1553658104 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS1553658246 |
MLH1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1553658892 |
COL4A4
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome |
| RS1553658926 |
FN1
|
Health Risk |
Likely pathogenic |
Spondylometaphyseal dysplasia, Spondylometaphyseal dysplasia - Sutcliffe type |
| RS1553659131 |
FN1
|
Health Risk |
Likely pathogenic |
Spondylometaphyseal dysplasia, Spondylometaphyseal dysplasia - Sutcliffe type |
| RS1553659334 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1553659377 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, hereditary nonpolyposis |
| RS1553659500 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1553659628 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553659758 |
NBEAL2
|
Health Risk |
Pathogenic |
Gray platelet syndrome, Gray platelet syndrome |
| RS1553659902 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Cardiovascular phenotype |
| RS1553660344 |
TMEM237
|
Health Risk |
Likely pathogenic |
— |
| RS1553660890 |
FOXP1
|
Health Risk |
Pathogenic |
— |
| RS1553660900 |
FOXP1
|
Health Risk |
Likely pathogenic |
— |
| RS1553661994 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553662326 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553662457 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553662622 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553662753 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553662800 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1553663084 |
FOXP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS1553663140 |
FOXP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS1553663159 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1553663498 |
NBEAL2
|
Health Risk |
Pathogenic |
Gray platelet syndrome, NBEAL2-related disorder |
| RS1553663750 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer |
| RS1553663834 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Carcinoma of colon |
| RS1553663867 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553663884 |
MLH1
|
Health Risk |
Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553663981 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1553663997 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS1553664119 |
MLH1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS1553664287 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1553664353 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS1553664436 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1553664506 |
MLH1
|
Health Risk |
Likely pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS1553664617 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1553664644 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553664702 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch-like syndrome |
| RS1553665467 |
MLH1
|
Health Risk |
Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1553665514 |
MLH1
|
Health Risk |
Pathogenic |
— |
| RS1553665556 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS1553665630 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553665683 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer |
| RS1553665866 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer |
| RS1553665880 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1553665977 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1553666033 |
NGLY1
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Congenital disorder of deglycosylation |
| RS1553666051 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS1553666143 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome 1 |
| RS1553666546 |
ITPR1
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Spinocerebellar ataxia type 29 |
| RS1553667072 |
FN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Spondylometaphyseal dysplasia, Spondylometaphyseal dysplasia - Sutcliffe type |
| RS1553667322 |
FOXP1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1553668196 |
FOXP1
|
Health Risk |
Pathogenic |
Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS1553668386 |
FOXP1
|
Health Risk |
Pathogenic |
— |
| RS1553668839 |
FOXP1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1553669486 |
PRKCD
|
Health Risk |
Pathogenic |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD |
| RS1553669674 |
COL4A4
|
Health Risk |
Pathogenic |
— |
| RS1553669703 |
FN1
|
Health Risk |
Likely pathogenic |
Spondylometaphyseal dysplasia, Spondylometaphyseal dysplasia - Sutcliffe type |
| RS1553669704 |
COL4A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive Alport syndrome, Hematuria |
| RS1553670762 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS1553674975 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553676221 |
COL4A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome |
| RS1553676230 |
COL4A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive Alport syndrome, Alport syndrome |
| RS1553676901 |
CACNA1D
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1553677967 |
WNT5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1 |
| RS1553677971 |
WNT5A
|
Health Risk |
Likely pathogenic |
Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1 |
| RS1553678368 |
FOXP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS1553678501 |
FOXP1
|
Health Risk |
Pathogenic |
— |
| RS1553678967 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1553679072 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1553679273 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1553681348 |
IMPG2
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa, Retinitis pigmentosa |
| RS1553681433 |
IMPG2
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 56, Retinitis pigmentosa 56 |
| RS1553681434 |
IMPG2
|
Health Risk |
Pathogenic |
— |
| RS1553681700 |
COL4A4
|
Health Risk |
Likely pathogenic |
— |
| RS1553681714 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Alport syndrome |
| RS1553681758 |
ITPR1
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1553682168 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553682326 |
TTN
|
Health Risk |
Pathogenic |
— |
| RS1553682760 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553682895 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Hematuria |
| RS1553683192 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS1553683560 |
GBE1
|
Health Risk |
Pathogenic |
— |
| RS1553683757 |
COL4A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive Alport syndrome, Alport syndrome |
| RS1553683825 |
ITPR1
|
Health Risk |
Likely pathogenic |
— |
| RS1553684545 |
GBE1
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Glycogen storage disease |
| RS1553684897 |
SLC25A20
|
Health Risk |
Pathogenic |
Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency |