| RS2517010029 |
RTEL1
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517012381 |
WDR4
|
Health Risk |
Likely pathogenic |
Galloway-Mowat syndrome 6, Galloway-Mowat syndrome 6 |
| RS2517014824 |
COL6A2
|
Health Risk |
Likely pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2517016417 |
ITSN1
|
Health Risk |
Pathogenic |
Autistic behavior, Autistic behavior |
| RS2517017153 |
RTEL1
|
Health Risk |
Likely pathogenic |
Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome |
| RS2517017188 |
RTEL1
|
Health Risk |
Pathogenic |
Pulmonary fibrosis, Pulmonary fibrosis |
| RS2517018190 |
COL6A2
|
Health Risk |
Likely pathogenic |
— |
| RS2517018229 |
COL6A2
|
Health Risk |
Likely pathogenic |
— |
| RS2517018355 |
COL6A2
|
Health Risk |
Likely pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2517018537 |
COL6A2
|
Health Risk |
Pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2517018842 |
COL6A2
|
Health Risk |
Pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2517029289 |
COL6A2
|
Health Risk |
Likely pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2517029574 |
COL6A2
|
Health Risk |
Likely pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2517030056 |
COL6A2
|
Health Risk |
Pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2517030078 |
COL6A2
|
Health Risk |
Likely pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2517030401 |
COL6A2
|
Health Risk |
Likely pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2517037655 |
RUNX1
|
Health Risk |
Likely pathogenic |
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome |
| RS2517037669 |
RUNX1
|
Health Risk |
Likely pathogenic |
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome |
| RS2517037994 |
RUNX1
|
Health Risk |
Likely pathogenic |
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome |
| RS2517038098 |
RUNX1
|
Health Risk |
Pathogenic |
Acute myeloid leukemia, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome |
| RS2517039436 |
RUNX1
|
Health Risk |
Pathogenic |
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome |
| RS2517039725 |
RTEL1
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517039957 |
RTEL1
|
Health Risk |
Pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517040310 |
RUNX1
|
Health Risk |
Pathogenic |
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome |
| RS2517040329 |
RTEL1
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517040332 |
RTEL1
|
Health Risk |
Likely pathogenic |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related |
| RS2517040371 |
RUNX1
|
Health Risk |
Pathogenic |
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome |
| RS2517040421 |
RUNX1
|
Health Risk |
Pathogenic |
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome |
| RS2517040449 |
RUNX1
|
Health Risk |
Pathogenic |
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome |
| RS2517040954 |
RUNX1
|
Health Risk |
Pathogenic |
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome |
| RS2517041339 |
ERG
|
Health Risk |
Pathogenic |
Lymphatic malformation 14, Lymphatic malformation 14 |
| RS2517041902 |
RUNX1
|
Health Risk |
Pathogenic |
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome |
| RS2517046858 |
CLDN14
|
Health Risk |
Likely pathogenic |
— |
| RS2517047371 |
FTCD
|
Health Risk |
Likely pathogenic |
Glutamate formiminotransferase deficiency, Glutamate formiminotransferase deficiency |
| RS2517058695 |
RTEL1
|
Health Risk |
Conflicting classifications of pathogenicity |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related |
| RS2517068279 |
RTEL1
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517068544 |
RTEL1
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517068790 |
RTEL1
|
Health Risk |
Pathogenic |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related |
| RS2517081753 |
GNAS
|
Health Risk |
Likely pathogenic |
— |
| RS2517082005 |
GNAS
|
Health Risk |
Pathogenic/Likely pathogenic |
GNAS-associated disease, GNAS-associated disease |
| RS2517085308 |
GNAS
|
Health Risk |
Pathogenic |
— |
| RS2517085502 |
GNAS
|
Health Risk |
Likely pathogenic |
Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A |
| RS2517085749 |
GNAS
|
Health Risk |
Likely pathogenic |
GNAS-related disorder, GNAS-related disorder |
| RS2517088205 |
ITGB2
|
Health Risk |
Pathogenic |
Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS2517088469 |
SYNJ1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 53 |
| RS2517090850 |
PDXK
|
Health Risk |
Pathogenic |
— |
| RS2517094156 |
ITGB2
|
Health Risk |
Pathogenic |
Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS2517096730 |
TMPRSS3
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS2517096837 |
RTEL1
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517096911 |
RTEL1
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517096977 |
RTEL1
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517098842 |
TMPRSS3
|
Health Risk |
Likely pathogenic |
— |
| RS2517099578 |
AVP
|
Health Risk |
Likely pathogenic |
Neurohypophyseal diabetes insipidus, Neurohypophyseal diabetes insipidus |
| RS2517100221 |
AVP
|
Health Risk |
Likely pathogenic |
Neurohypophyseal diabetes insipidus, Neurohypophyseal diabetes insipidus |
| RS2517100494 |
AVP
|
Health Risk |
Pathogenic |
AVP-related disorder, AVP-related disorder |
| RS2517107344 |
TMPRSS3
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS2517107435 |
TMPRSS3
|
Health Risk |
Pathogenic |
— |
| RS2517107846 |
TMPRSS3
|
Health Risk |
Pathogenic |
— |
| RS2517111998 |
RTEL1
|
Health Risk |
Pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517112417 |
RTEL1
|
Health Risk |
Pathogenic |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related |
| RS2517112430 |
TMPRSS3
|
Health Risk |
Pathogenic |
— |
| RS2517115331 |
ITGB2
|
Health Risk |
Pathogenic |
Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS2517115712 |
TMPRSS3
|
Health Risk |
Pathogenic |
— |
| RS2517116311 |
TMPRSS3
|
Health Risk |
Pathogenic |
— |
| RS2517116632 |
RTEL1
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517117939 |
RTEL1
|
Health Risk |
Pathogenic |
Pulmonary fibrosis, Pulmonary fibrosis |
| RS2517119057 |
RTEL1
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517119770 |
RTEL1
|
Health Risk |
Pathogenic |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related |
| RS2517119949 |
RTEL1
|
Health Risk |
Pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517121897 |
ITGB2
|
Health Risk |
Pathogenic |
Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS2517122415 |
RTEL1
|
Health Risk |
Pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517122868 |
ITGB2
|
Health Risk |
Likely pathogenic |
Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS2517129036 |
ITGB2
|
Health Risk |
Pathogenic |
Leukocyte adhesion deficiency 1, Thyroid cancer |
| RS2517132560 |
GNAS
|
Health Risk |
Pathogenic |
— |
| RS2517132595 |
RTEL1
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517132727 |
RTEL1
|
Health Risk |
Likely pathogenic |
— |
| RS2517134050 |
GNAS
|
Health Risk |
Pathogenic |
Pseudohypoparathyroidism type 1C, Pseudohypoparathyroidism type 1C |
| RS2517134334 |
TMPRSS3
|
Health Risk |
Pathogenic |
— |
| RS2517134527 |
RTEL1
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517134736 |
RTEL1
|
Health Risk |
Pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517134750 |
RTEL1
|
Health Risk |
Pathogenic |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related |
| RS2517134841 |
RTEL1
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517135025 |
RTEL1
|
Health Risk |
Pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517135415 |
GNAS
|
Health Risk |
Pathogenic |
— |
| RS2517136697 |
TMPRSS3
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS2517137449 |
TMPRSS3
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS2517138279 |
ITGB2
|
Health Risk |
Pathogenic |
Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS2517138391 |
ITGB2
|
Health Risk |
Pathogenic |
Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS2517138611 |
RTEL1
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517138758 |
RTEL1
|
Health Risk |
Pathogenic/Likely pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517138765 |
RTEL1
|
Health Risk |
Pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517139063 |
RTEL1
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517140063 |
RTEL1
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517140345 |
RTEL1
|
Health Risk |
Pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517140415 |
RTEL1
|
Health Risk |
Pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517140972 |
RTEL1
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517141332 |
RTEL1
|
Health Risk |
Pathogenic/Likely pathogenic |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related |
| RS2517148169 |
RTEL1
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, autosomal recessive 5 |
| RS2517150648 |
TMPRSS3
|
Health Risk |
Likely pathogenic |
— |
| RS2517152384 |
ITGB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |