| RS121913013 |
DSG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB |
| RS121913015 |
PCBD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency |
| RS121913016 |
ERCC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Xeroderma pigmentosum, group D |
| RS121913017 |
ERCC2
|
Health Risk |
Pathogenic |
Xeroderma pigmentosum, group D |
| RS121913018 |
ERCC2
|
Health Risk |
Likely pathogenic |
Trichothiodystrophy 1, photosensitive |
| RS121913019 |
ERCC2
|
Health Risk |
Pathogenic |
Xeroderma pigmentosum, group D |
| RS121913020 |
ERCC2
|
Health Risk |
Pathogenic |
Trichothiodystrophy 1, photosensitive |
| RS121913021 |
ERCC2
|
Health Risk |
Likely pathogenic |
Trichothiodystrophy 1, photosensitive |
| RS121913023 |
ERCC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cerebrooculofacioskeletal syndrome 2, Inborn genetic diseases |
| RS121913024 |
ERCC2
|
Health Risk |
Pathogenic/Likely pathogenic |
Xeroderma pigmentosum, group D |
| RS121913025 |
ERCC2
|
Health Risk |
Pathogenic |
Xeroderma pigmentosum, group D |
| RS121913026 |
ERCC2
|
Health Risk |
Pathogenic |
Trichothiodystrophy 1, photosensitive |
| RS121913027 |
ERCC1
|
Health Risk |
Pathogenic |
Cerebrooculofacioskeletal syndrome 4, Cerebrooculofacioskeletal syndrome 4 |
| RS121913028 |
ERCC1
|
Health Risk |
Pathogenic |
Cerebrooculofacioskeletal syndrome 4, Cockayne syndrome |
| RS121913030 |
SLC26A3
|
Health Risk |
Pathogenic |
Congenital secretory diarrhea, chloride type |
| RS121913031 |
SLC26A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital secretory diarrhea, chloride type |
| RS121913032 |
SLC26A3
|
Health Risk |
Pathogenic |
Congenital secretory diarrhea, chloride type |
| RS121913033 |
SLC26A3
|
Health Risk |
Pathogenic |
Congenital secretory diarrhea, chloride type |
| RS121913034 |
MEN1
|
Health Risk |
Pathogenic |
Angiofibroma, somatic |
| RS121913035 |
MEN1
|
Health Risk |
Pathogenic |
Adrenocortical adenoma, Adrenocortical adenoma |
| RS121913036 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial neurogastrointestinal encephalomyopathy |
| RS121913037 |
TYMP
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial neurogastrointestinal encephalomyopathy |
| RS121913038 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial neurogastrointestinal encephalomyopathy |
| RS121913039 |
TYMP
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS121913040 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS121913041 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS121913042 |
TYMP
|
Health Risk |
Conflicting classifications of pathogenicity |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS121913043 |
ESR1
|
Health Risk |
Pathogenic |
Estrogen receptor mutant, temperature-sensitive |
| RS121913045 |
ERCC3
|
Health Risk |
Pathogenic |
Xeroderma pigmentosum group B, Trichothiodystrophy 2 |
| RS121913046 |
ERCC3
|
Health Risk |
Pathogenic |
Trichothiodystrophy 2, photosensitive |
| RS121913047 |
ERCC3
|
Health Risk |
Pathogenic |
Xeroderma pigmentosum group B, Inborn genetic diseases |
| RS121913048 |
ERCC3
|
Health Risk |
Pathogenic |
Xeroderma pigmentosum group B, Xeroderma pigmentosum group B |
| RS121913049 |
ERCC4
|
Health Risk |
Conflicting classifications of pathogenicity |
Xeroderma pigmentosum, group F |
| RS121913050 |
ERCC4
|
Health Risk |
Pathogenic |
XFE progeroid syndrome, XFE progeroid syndrome |
| RS121913051 |
CFH
|
Health Risk |
Pathogenic/Likely pathogenic |
Hemolytic uremic syndrome, atypical |
| RS121913054 |
CFH
|
Health Risk |
Pathogenic |
Factor H deficiency, Factor H deficiency |
| RS121913056 |
CFH
|
Health Risk |
Likely pathogenic, low penetrance |
Factor H deficiency, Atypical hemolytic-uremic syndrome |
| RS121913057 |
CFH
|
Health Risk |
Pathogenic |
Hemolytic uremic syndrome, atypical |
| RS121913058 |
CFH
|
Health Risk |
Likely pathogenic |
Factor H deficiency, Factor H deficiency |
| RS121913059 |
CFH
|
Health Risk |
Conflicting classifications of pathogenicity |
Factor H deficiency, Hemolytic uremic syndrome |
| RS121913060 |
CFH
|
Health Risk |
Pathogenic |
Hemolytic uremic syndrome, atypical |
| RS121913061 |
CFH
|
Health Risk |
Pathogenic |
Basal laminar drusen, Age related macular degeneration 4 |
| RS121913063 |
CFH
|
Health Risk |
Pathogenic, low penetrance |
Hemolytic uremic syndrome, atypical |
| RS121913064 |
F13A1
|
Health Risk |
Pathogenic |
Factor XIII, A subunit |
| RS121913065 |
F13A1
|
Health Risk |
Pathogenic |
Factor XIII, A subunit |
| RS121913066 |
F13A1
|
Health Risk |
Pathogenic |
Factor XIII, A subunit |
| RS121913067 |
F13A1
|
Health Risk |
Pathogenic |
Factor XIII, A subunit |
| RS121913069 |
F13A1
|
Health Risk |
Pathogenic |
Factor XIII, A subunit |
| RS121913070 |
F13A1
|
Health Risk |
Pathogenic |
Factor XIII, A subunit |
| RS121913071 |
F13A1
|
Health Risk |
Pathogenic |
Factor XIII, A subunit |
| RS121913072 |
F13A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Factor XIII, A subunit |
| RS121913073 |
F13A1
|
Health Risk |
Pathogenic |
Factor XIII, A subunit |
| RS121913074 |
F13A1
|
Health Risk |
Pathogenic |
Factor XIII, A subunit |
| RS121913075 |
F13B
|
Health Risk |
Pathogenic |
Factor XIII, b subunit |
| RS121913076 |
FAS
|
Health Risk |
Pathogenic |
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA |
| RS121913077 |
FAS
|
Health Risk |
Pathogenic |
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA |
| RS121913080 |
FAS
|
Health Risk |
Pathogenic/Likely pathogenic |
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA |
| RS121913082 |
FAS
|
Health Risk |
Pathogenic |
SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED |
| RS121913083 |
FAS
|
Health Risk |
Pathogenic |
SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED |
| RS121913084 |
FAS
|
Health Risk |
Pathogenic |
SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED |
| RS121913085 |
FAS
|
Health Risk |
Pathogenic |
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA |
| RS121913086 |
FAS
|
Health Risk |
Pathogenic |
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA |
| RS121913087 |
FGG
|
Health Risk |
Pathogenic |
FIBRINOGEN TOKYO 2, Hypofibrinogenemia |
| RS121913088 |
FGG
|
Health Risk |
Pathogenic/Likely pathogenic |
FIBRINOGEN HAIFA 1, Hypofibrinogenemia |
| RS121913091 |
FGG
|
Health Risk |
Pathogenic/Likely pathogenic |
FIBRINOGEN ASAHI, Familial dysfibrinogenemia |
| RS121913094 |
FGG
|
Health Risk |
Likely pathogenic |
Familial dysfibrinogenemia, Familial dysfibrinogenemia |
| RS121913101 |
FGFR3
|
Health Risk |
Likely pathogenic |
Thanatophoric dysplasia type 1, See cases |
| RS121913103 |
FGFR3
|
Health Risk |
Pathogenic/Likely pathogenic |
Thanatophoric dysplasia type 1, See cases |
| RS121913105 |
FGFR3
|
Health Risk |
Pathogenic |
Thanatophoric dysplasia type 1, 14 conditions |
| RS121913111 |
FGFR3
|
Health Risk |
Pathogenic |
Carcinoma of colon, Carcinoma of colon |
| RS121913113 |
FGFR3
|
Health Risk |
Pathogenic |
Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Camptodactyly-tall stature-scoliosis-hearing loss syndrome |
| RS121913114 |
FGFR3
|
Health Risk |
Pathogenic |
Achondroplasia, Hypochondroplasia |
| RS121913115 |
FGFR3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypochondroplasia, Short stature |
| RS121913116 |
FGFR3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypochondroplasia, 9 conditions |
| RS121913118 |
FH
|
Health Risk |
Pathogenic |
— |
| RS121913119 |
FH
|
Health Risk |
Pathogenic/Likely pathogenic |
Fumarase deficiency, Hereditary cancer-predisposing syndrome |
| RS121913120 |
FH
|
Health Risk |
Pathogenic |
Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome |
| RS121913121 |
FH
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome |
| RS121913122 |
FH
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome |
| RS121913123 |
FH
|
Health Risk |
Pathogenic |
Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency |
| RS121913125 |
GABRB3
|
Health Risk |
Conflicting classifications of pathogenicity |
Insomnia, Epilepsy |
| RS121913126 |
GABRB3
|
Health Risk |
Conflicting classifications of pathogenicity |
Epilepsy, childhood absence |
| RS121913129 |
MSX1
|
Health Risk |
Pathogenic/Likely pathogenic |
Tooth agenesis, selective |
| RS121913130 |
MSX1
|
Health Risk |
Pathogenic |
Tooth agenesis, selective |
| RS121913131 |
HADHB
|
Health Risk |
Pathogenic |
Mitochondrial trifunctional protein deficiency 2, Mitochondrial trifunctional protein deficiency 2 |
| RS121913132 |
HADHB
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 2 |
| RS121913133 |
HADHB
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 2 |
| RS121913134 |
HADHB
|
Health Risk |
Pathogenic |
Mitochondrial trifunctional protein deficiency 2, Mitochondrial trifunctional protein deficiency 2 |
| RS121913135 |
INSR
|
Health Risk |
Pathogenic |
Insulin-resistant diabetes mellitus AND acanthosis nigricans, Insulin-resistant diabetes mellitus AND acanthosis nigricans |
| RS121913136 |
INSR
|
Health Risk |
Conflicting classifications of pathogenicity |
Leprechaunism syndrome, INSR-related disorder |
| RS121913137 |
INSR
|
Health Risk |
Pathogenic |
Leprechaunism syndrome, Leprechaunism syndrome |
| RS121913138 |
INSR
|
Health Risk |
Pathogenic |
Insulin-resistant diabetes mellitus AND acanthosis nigricans, Insulin-resistant diabetes mellitus AND acanthosis nigricans |
| RS121913139 |
INSR
|
Health Risk |
Pathogenic |
Insulin resistance, Insulin-resistant diabetes mellitus AND acanthosis nigricans |
| RS121913140 |
INSR
|
Health Risk |
Pathogenic |
Insulin-resistant diabetes mellitus AND acanthosis nigricans, Insulin-resistant diabetes mellitus AND acanthosis nigricans |
| RS121913141 |
INSR
|
Health Risk |
Pathogenic |
Leprechaunism syndrome, Leprechaunism syndrome |
| RS121913142 |
INSR
|
Health Risk |
Pathogenic |
Insulin-resistant diabetes mellitus, Insulin-resistant diabetes mellitus |
| RS121913143 |
INSR
|
Health Risk |
Pathogenic |
Rabson-Mendenhall syndrome, Rabson-Mendenhall syndrome |
| RS121913144 |
INSR
|
Health Risk |
Pathogenic |
Rabson-Mendenhall syndrome, Insulin-resistant diabetes mellitus AND acanthosis nigricans |
| RS121913145 |
INSR
|
Health Risk |
Pathogenic |
Leprechaunism syndrome, Leprechaunism syndrome |
| RS121913146 |
INSR
|
Health Risk |
Pathogenic |
Insulin-resistant diabetes mellitus AND acanthosis nigricans, Insulin-resistant diabetes mellitus AND acanthosis nigricans |