| RS121964883 |
AVP
|
Health Risk |
Pathogenic |
Neurohypophyseal diabetes insipidus, Neurohypophyseal diabetes insipidus |
| RS121964884 |
AVP
|
Health Risk |
Pathogenic |
Neurohypophyseal diabetes insipidus, Neurohypophyseal diabetes insipidus |
| RS121964885 |
AVP
|
Health Risk |
Pathogenic |
Neurohypophyseal diabetes insipidus, Neurohypophyseal diabetes insipidus |
| RS121964886 |
AVP
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurohypophyseal diabetes insipidus, Neurohypophyseal diabetes insipidus |
| RS121964887 |
AVP
|
Health Risk |
Likely pathogenic |
Neurohypophyseal diabetes insipidus, Neurohypophyseal diabetes insipidus |
| RS121964888 |
AVP
|
Health Risk |
Pathogenic |
Neurohypophyseal diabetes insipidus, Neurohypophyseal diabetes insipidus |
| RS121964889 |
AVP
|
Health Risk |
Pathogenic |
Neurohypophyseal diabetes insipidus, Neurohypophyseal diabetes insipidus |
| RS121964890 |
AVP
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurohypophyseal diabetes insipidus, Neurohypophyseal diabetes insipidus |
| RS121964891 |
AVP
|
Health Risk |
Likely pathogenic |
Neurohypophyseal diabetes insipidus, AVP-related disorder |
| RS121964892 |
AVP
|
Health Risk |
Pathogenic |
Diabetes insipidus, neurohypophyseal |
| RS121964893 |
AVP
|
Health Risk |
Pathogenic |
Neurohypophyseal diabetes insipidus, Neurohypophyseal diabetes insipidus |
| RS121964894 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 2N, Hereditary von Willebrand disease |
| RS121964895 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 1, von Willebrand factor Vicenza |
| RS121964897 |
HSD3B2
|
Health Risk |
Pathogenic |
3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency |
| RS121964904 |
AGA
|
Health Risk |
Pathogenic |
ASPARTYLGLUCOSAMINURIA, FINNISH TYPE |
| RS121964905 |
AGA
|
Health Risk |
Likely pathogenic |
Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS121964906 |
AGA
|
Health Risk |
Likely pathogenic |
Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS121964907 |
AGA
|
Health Risk |
Likely pathogenic |
Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS121964908 |
AGA
|
Health Risk |
Pathogenic/Likely pathogenic |
Aspartylglucosaminuria, Autism |
| RS121964909 |
AGA
|
Health Risk |
Pathogenic |
Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS121964912 |
CFI
|
Health Risk |
Conflicting classifications of pathogenicity |
Factor I deficiency, CFI-related disorder |
| RS121964913 |
CFI
|
Health Risk |
Pathogenic/Likely pathogenic |
Atypical hemolytic-uremic syndrome with I factor anomaly, CFI-related disorder |
| RS121964914 |
CFI
|
Health Risk |
Conflicting classifications of pathogenicity |
Atypical hemolytic-uremic syndrome with I factor anomaly, CFI-related disorder |
| RS121964915 |
CFI
|
Health Risk |
Pathogenic |
Atypical hemolytic-uremic syndrome with I factor anomaly, CFI-related disorder |
| RS121964916 |
CFI
|
Health Risk |
Pathogenic |
Factor I deficiency, Factor I deficiency |
| RS121964918 |
CFI
|
Health Risk |
Conflicting classifications of pathogenicity |
Atypical hemolytic-uremic syndrome with I factor anomaly, CFI-related disorder |
| RS121964920 |
C7
|
Health Risk |
Conflicting classifications of pathogenicity |
Complement component 7 deficiency, C7 and C6 deficiency |
| RS121964921 |
C7
|
Health Risk |
Conflicting classifications of pathogenicity |
Complement component 7 deficiency, C7-related disorder |
| RS121964922 |
C7
|
Health Risk |
Pathogenic |
Complement component 7 deficiency, Complement component 7 deficiency |
| RS121964923 |
DPYS
|
Health Risk |
Pathogenic |
Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency |
| RS121964924 |
DPYS
|
Health Risk |
Pathogenic/Likely pathogenic |
Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency |
| RS121964925 |
BPGM
|
Health Risk |
Pathogenic |
Deficiency of bisphosphoglycerate mutase, Deficiency of bisphosphoglycerate mutase |
| RS121964926 |
F7
|
Health Risk |
Pathogenic/Likely pathogenic; other |
Factor VII deficiency, Congenital factor VII deficiency |
| RS121964927 |
F7
|
Health Risk |
Pathogenic/Likely pathogenic |
Factor VII deficiency, See cases |
| RS121964928 |
F7
|
Health Risk |
Pathogenic |
Factor VII deficiency, Factor VII deficiency |
| RS121964929 |
F7
|
Health Risk |
Pathogenic/Likely pathogenic |
F7-related disorder, Factor VII deficiency |
| RS121964930 |
F7
|
Health Risk |
Pathogenic |
Factor VII deficiency, Factor VII deficiency |
| RS121964931 |
F7
|
Health Risk |
Pathogenic/Likely pathogenic |
Factor VII deficiency, Congenital factor VII deficiency |
| RS121964932 |
F7
|
Health Risk |
Pathogenic |
Factor VII deficiency, Factor VII deficiency |
| RS121964933 |
F7
|
Health Risk |
Pathogenic |
Factor VII deficiency, Factor VII deficiency |
| RS121964934 |
F7
|
Health Risk |
Pathogenic/Likely pathogenic |
Factor VII deficiency, Congenital factor VII deficiency |
| RS121964935 |
F7
|
Health Risk |
Pathogenic |
Factor VII deficiency, Factor VII deficiency |
| RS121964936 |
F7
|
Health Risk |
Likely pathogenic |
Factor VII deficiency, Factor VII deficiency |
| RS121964937 |
F7
|
Health Risk |
Pathogenic |
Factor VII deficiency, Factor VII deficiency |
| RS121964939 |
F10
|
Health Risk |
Conflicting classifications of pathogenicity |
Factor X deficiency, Hereditary factor X deficiency disease |
| RS121964940 |
F10
|
Health Risk |
Pathogenic |
Factor X deficiency, Factor X deficiency |
| RS121964941 |
F10
|
Health Risk |
Pathogenic |
Factor X deficiency, Factor X deficiency |
| RS121964942 |
F10
|
Health Risk |
Pathogenic |
Factor X deficiency, Factor X deficiency |
| RS121964943 |
F10
|
Health Risk |
Pathogenic |
Factor X deficiency, Factor X deficiency |
| RS121964944 |
F10
|
Health Risk |
Likely pathogenic |
Hereditary factor X deficiency disease, Factor X deficiency |
| RS121964945 |
F10
|
Health Risk |
Pathogenic |
Factor X deficiency, Factor X deficiency |
| RS121964946 |
F10
|
Health Risk |
Pathogenic |
Factor x deficiency, autosomal dominant |
| RS121964947 |
F10
|
Health Risk |
Pathogenic |
Factor X deficiency, Factor X deficiency |
| RS121964948 |
F10
|
Health Risk |
Pathogenic |
Factor X deficiency, Factor X deficiency |
| RS121964949 |
KLKB1
|
Health Risk |
Pathogenic |
Prekallikrein deficiency, Prekallikrein deficiency |
| RS121964950 |
KLKB1
|
Health Risk |
Pathogenic |
Prekallikrein deficiency, Prekallikrein deficiency |
| RS121964951 |
KLKB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Prekallikrein deficiency, Inherited prekallikrein deficiency |
| RS121964952 |
KLKB1
|
Health Risk |
Pathogenic |
Prekallikrein deficiency, Prekallikrein deficiency |
| RS121964953 |
ETFDH
|
Health Risk |
Pathogenic |
Glutaric acidemia IIc, Multiple acyl-CoA dehydrogenase deficiency |
| RS121964954 |
ETFDH
|
Health Risk |
Pathogenic |
Glutaric acidemia IIc, Multiple acyl-CoA dehydrogenase deficiency |
| RS121964955 |
ETFDH
|
Health Risk |
Conflicting classifications of pathogenicity |
Glutaric acidemia IIc, Multiple acyl-CoA dehydrogenase deficiency |
| RS121964956 |
ETFDH
|
Health Risk |
Pathogenic |
Glutaric acidemia IIc, Multiple acyl-CoA dehydrogenase deficiency |
| RS121964957 |
PCCA
|
Health Risk |
Pathogenic/Likely pathogenic |
Propionic acidemia, Propionic acidemia |
| RS121964958 |
PCCA
|
Health Risk |
Pathogenic/Likely pathogenic |
Propionic acidemia, Propionic acidemia |
| RS121964959 |
PCCB
|
Health Risk |
Pathogenic/Likely pathogenic |
Propionic acidemia, Propionic acidemia |
| RS121964960 |
PCCB
|
Health Risk |
Pathogenic |
Propionic acidemia, Propionic acidemia |
| RS121964961 |
PCCB
|
Health Risk |
Pathogenic/Likely pathogenic |
Propionic acidemia, Propionic acidemia |
| RS121964962 |
CBS
|
Health Risk |
Pathogenic |
Homocystinuria, pyridoxine-nonresponsive |
| RS121964963 |
CBS
|
Health Risk |
Likely pathogenic |
Homocystinuria, pyridoxine-responsive |
| RS121964964 |
CBS
|
Health Risk |
Pathogenic/Likely pathogenic |
Homocystinuria, pyridoxine-responsive |
| RS121964965 |
CBS
|
Health Risk |
Conflicting classifications of pathogenicity |
Homocystinuria, pyridoxine-responsive |
| RS121964966 |
CBS
|
Health Risk |
Likely pathogenic |
Homocystinuria, pyridoxine-responsive |
| RS121964967 |
CBS
|
Health Risk |
Likely pathogenic |
Homocystinuria, pyridoxine-responsive |
| RS121964968 |
CBS
|
Health Risk |
Likely pathogenic |
Homocystinuria, pyridoxine-responsive |
| RS121964969 |
CBS
|
Health Risk |
Pathogenic/Likely pathogenic |
Homocystinuria, pyridoxine-responsive |
| RS121964970 |
CBS
|
Health Risk |
Conflicting classifications of pathogenicity |
Homocystinuria, pyridoxine-responsive |
| RS121964971 |
CBS
|
Health Risk |
Pathogenic |
HYPERHOMOCYSTEINEMIA, THROMBOTIC |
| RS121964972 |
CBS
|
Health Risk |
Pathogenic |
Homocystinuria, pyridoxine-nonresponsive |
| RS121964973 |
CBS
|
Health Risk |
Conflicting classifications of pathogenicity |
Homocystinuria, pyridoxine-nonresponsive |
| RS121964974 |
GLDC
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycine encephalopathy, Glycine encephalopathy 1 |
| RS121964975 |
GLDC
|
Health Risk |
Likely pathogenic |
Glycine encephalopathy, Glycine encephalopathy 1 |
| RS121964976 |
GLDC
|
Health Risk |
Pathogenic |
Glycine encephalopathy, Global developmental delay |
| RS121964977 |
GLDC
|
Health Risk |
Pathogenic |
Glycine encephalopathy, Glycine encephalopathy 1 |
| RS121964978 |
GLDC
|
Health Risk |
Pathogenic |
Glycine encephalopathy, Glycine encephalopathy 1 |
| RS121964979 |
GLDC
|
Health Risk |
Pathogenic |
Glycine encephalopathy, Glycine encephalopathy 1 |
| RS121964980 |
GLDC
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycine encephalopathy, Glycine encephalopathy 1 |
| RS121964981 |
AMT
|
Health Risk |
Conflicting classifications of pathogenicity |
Glycine encephalopathy, Glycine encephalopathy 2 |
| RS121964982 |
AMT
|
Health Risk |
Likely pathogenic |
Glycine encephalopathy, Inborn genetic diseases |
| RS121964983 |
AMT
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycine encephalopathy, Glycine encephalopathy 2 |
| RS121964984 |
AMT
|
Health Risk |
Conflicting classifications of pathogenicity |
Glycine encephalopathy, Glycine encephalopathy 2 |
| RS121964985 |
AMT
|
Health Risk |
Pathogenic |
Glycine encephalopathy, Glycine encephalopathy 2 |
| RS121964986 |
AMT
|
Health Risk |
Pathogenic |
Glycine encephalopathy, Glycine encephalopathy 2 |
| RS121964987 |
DLD
|
Health Risk |
Pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS121964988 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS121964989 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS121964990 |
DLD
|
Health Risk |
Pathogenic |
Pyruvate dehydrogenase E3 deficiency, Inborn genetic diseases |
| RS121964991 |
DLD
|
Health Risk |
Pathogenic/Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS121964992 |
DLD
|
Health Risk |
Pathogenic/Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Inborn genetic diseases |
| RS121964993 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS121964994 |
INVS
|
Health Risk |
Pathogenic/Likely pathogenic |
Infantile nephronophthisis, Nephronophthisis |