| RS2071395559 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071401309 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071401524 |
SETBP1
|
Health Risk |
Likely pathogenic |
— |
| RS2071410989 |
SETBP1
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2071413180 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071413817 |
ATRX
|
Health Risk |
Conflicting classifications of pathogenicity |
Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS2071414050 |
ACADVL
|
Health Risk |
Conflicting classifications of pathogenicity |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071415045 |
ATRX
|
Health Risk |
Conflicting classifications of pathogenicity |
Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome |
| RS2071439399 |
ATRX
|
Health Risk |
Likely pathogenic |
Intellectual disability-hypotonic facies syndrome, X-linked |
| RS2071441898 |
ATRX
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability-hypotonic facies syndrome, X-linked |
| RS2071449158 |
TRAPPC9
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal recessive 13 |
| RS2071449894 |
TRAPPC9
|
Health Risk |
Pathogenic |
— |
| RS2071512726 |
FANCC
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2071539166 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2071566709 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant Alport syndrome, Hematuria |
| RS2071568063 |
COL4A3
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant Alport syndrome, Hematuria |
| RS2071570215 |
SLC9A6
|
Health Risk |
Conflicting classifications of pathogenicity |
Christianson syndrome, Christianson syndrome |
| RS2071591086 |
ILDR1
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 42 |
| RS2071592 |
NFKBIL1
|
Health Risk |
risk factor |
Rheumatoid arthritis, Rheumatoid arthritis |
| RS2071637185 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2071647433 |
MYL2
|
Health Risk |
Likely pathogenic |
Congenital myopathy with fiber type disproportion, Congenital myopathy with fiber type disproportion |
| RS2071677 |
LAMB2
|
Health Risk |
Conflicting classifications of pathogenicity |
LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome |
| RS2071694353 |
GPC3
|
Health Risk |
Likely pathogenic |
— |
| RS2071695360 |
GPC3
|
Health Risk |
Pathogenic |
— |
| RS2071700126 |
GPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1 |
| RS2071700502 |
GPC3
|
Health Risk |
Likely pathogenic |
Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 1 |
| RS2071701505 |
GPC3
|
Health Risk |
Pathogenic |
Wilms tumor 1, Wilms tumor 1 |
| RS2071733846 |
DKC1
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, X-linked |
| RS2071739379 |
DKC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Dyskeratosis congenita, Dyskeratosis congenita |
| RS2071779127 |
DSG1
|
Health Risk |
Conflicting classifications of pathogenicity |
Palmoplantar keratoderma i, striate |
| RS2071814101 |
DKC1
|
Health Risk |
Likely risk allele |
Pulmonary fibrosis, Pulmonary fibrosis |
| RS2071831565 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2071832975 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Alport syndrome |
| RS2071835414 |
DNM2
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B |
| RS2071838155 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant Alport syndrome, Hematuria |
| RS2071839316 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2071865513 |
ILDR1
|
Health Risk |
Pathogenic |
Childhood onset hearing loss, Childhood onset hearing loss |
| RS2071871731 |
DKC1
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, X-linked |
| RS2071886531 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS2071889322 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS2071892705 |
COL4A3
|
Health Risk |
Pathogenic |
— |
| RS2071916145 |
COL4A3
|
Health Risk |
Likely pathogenic |
Alport syndrome, Alport syndrome |
| RS2071928804 |
FANCC
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2071939263 |
FANCC
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group C, Fanconi anemia complementation group C |
| RS2072039168 |
COL4A3
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Alport syndrome 3b |
| RS2072040353 |
COL4A3
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant Alport syndrome, Hematuria |
| RS2072043249 |
COL4A3
|
Health Risk |
Pathogenic |
— |
| RS2072046147 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2072046668 |
COL4A3
|
Health Risk |
Pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS2072047738 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2072136807 |
COL4A3
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2072151207 |
SPOP
|
Health Risk |
Conflicting classifications of pathogenicity |
Prostate cancer, Neurodevelopmental disorder with microcephaly and dysmorphic facies |
| RS2072153488 |
SPOP
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodevelopmental disorder with microcephaly and dysmorphic facies, Neurodevelopmental disorder with microcephaly and dysmorphic facies |
| RS2072155694 |
SPOP
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies, Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies |
| RS2072157379 |
SPOP
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodevelopmental disorder with microcephaly and dysmorphic facies, Inborn genetic diseases |
| RS2072168176 |
SPOP
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies, Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies |
| RS2072184526 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2072188268 |
AFF2
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2072226563 |
ZNF418
|
Health Risk |
Likely pathogenic |
Moyamoya angiopathy, Moyamoya angiopathy |
| RS2072240134 |
FANCC
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group C, Fanconi anemia complementation group C |
| RS2072242904 |
ZAR1L;BRCA2;LOC106721785;LOC130009523
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS2072244773 |
SPOP
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies, SPOP-related disorder |
| RS2072245226 |
FANCC
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group C, Fanconi anemia complementation group C |
| RS2072249096 |
BRCA2
|
Health Risk |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2072253922 |
ATRX
|
Health Risk |
Conflicting classifications of pathogenicity |
Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome |
| RS2072261141 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2072283684 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS2072284097 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2072284385 |
BRCA2
|
Health Risk |
Pathogenic |
— |
| RS2072284495 |
BRCA2
|
Health Risk |
Pathogenic |
— |
| RS2072285588 |
BRCA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2072285986 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2072286254 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2072290145 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2072310236 |
SDCCAG8
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome 16, Bardet-Biedl syndrome 16 |
| RS2072318097 |
DNAH9
|
Health Risk |
Pathogenic |
— |
| RS2072334992 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2072335234 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2072343411 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2072343917 |
BRCA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2072344881 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2072346061 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS2072348853 |
BRCA2
|
Health Risk |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2072350917 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2072372599 |
BRWD3
|
Health Risk |
Pathogenic |
— |
| RS2072372672 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2072373015 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2072373199 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS2072384506 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2072384735 |
BRCA2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2072384782 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS2072385245 |
BRCA2
|
Health Risk |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2072386794 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Familial cancer of breast |
| RS2072386817 |
BRCA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Breast-ovarian cancer |
| RS2072387067 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2072387354 |
BRCA2
|
Health Risk |
Pathogenic |
— |
| RS2072397533 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2072398689 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2072398884 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2072398949 |
BRCA2
|
Health Risk |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |