| RS587776613 |
ELOVL4
|
Health Risk |
Pathogenic |
Stargardt disease 3, Stargardt disease 3 |
| RS587776614 |
ALX4
|
Health Risk |
Pathogenic |
Parietal foramina 2, Parietal foramina 2 |
| RS587776615 |
ATP6V0A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Renal tubular acidosis, distal |
| RS587776616 |
ATP6V0A4
|
Health Risk |
Pathogenic |
Renal tubular acidosis, distal |
| RS587776617 |
ATP6V0A4
|
Health Risk |
Pathogenic |
Renal tubular acidosis, distal |
| RS587776619 |
EVC
|
Health Risk |
Pathogenic |
Ellis-van Creveld syndrome, Ellis-van Creveld syndrome |
| RS587776620 |
SYCP3
|
Health Risk |
Pathogenic |
Spermatogenic failure 4, Spermatogenic failure 4 |
| RS587776621 |
WRN
|
Health Risk |
Pathogenic |
Werner syndrome, Werner syndrome |
| RS587776622 |
MLH3
|
Health Risk |
Conflicting classifications of pathogenicity |
Carcinoma of colon, Colorectal cancer |
| RS587776623 |
ADGRG1
|
Health Risk |
Likely pathogenic |
Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria |
| RS587776624 |
ADGRG1
|
Health Risk |
Likely pathogenic |
Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria |
| RS587776625 |
ADGRG1
|
Health Risk |
Pathogenic |
Bilateral frontoparietal polymicrogyria, Polymicrogyria |
| RS587776626 |
PHOX2B
|
Health Risk |
Pathogenic |
Congenital central hypoventilation, Haddad syndrome |
| RS587776627 |
AXIN1
|
Health Risk |
Pathogenic |
Hepatocellular carcinoma, Hepatocellular carcinoma |
| RS587776628 |
PTCH2
|
Health Risk |
Pathogenic |
Basal cell carcinoma, somatic |
| RS587776629 |
SCO1
|
Health Risk |
Pathogenic |
Mitochondrial complex IV deficiency, nuclear type 4 |
| RS587776630 |
BCL10
|
Health Risk |
Pathogenic |
Mucosa-associated lymphoma, Mucosa-associated lymphoma |
| RS587776631 |
BCL10
|
Health Risk |
Pathogenic |
Mucosa-associated lymphoma, Mucosa-associated lymphoma |
| RS587776632 |
BCL10
|
Health Risk |
Pathogenic |
Follicular lymphoma, Sezary syndrome |
| RS587776633 |
BCL10
|
Health Risk |
Pathogenic |
Follicular lymphoma, Follicular lymphoma |
| RS587776634 |
BCL10
|
Health Risk |
Pathogenic |
Follicular lymphoma, Follicular lymphoma |
| RS587776635 |
BCL10
|
Health Risk |
Pathogenic |
Follicular lymphoma, Follicular lymphoma |
| RS587776636 |
BCL10
|
Health Risk |
Pathogenic |
Follicular lymphoma, Follicular lymphoma |
| RS587776637 |
BCL10
|
Health Risk |
Pathogenic |
Follicular lymphoma, Follicular lymphoma |
| RS587776640 |
FANCG
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group G, Fanconi anemia |
| RS587776641 |
STXBP1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 4 |
| RS587776642 |
BUB1
|
Health Risk |
Pathogenic |
Carcinoma of colon, Carcinoma of colon |
| RS587776643 |
PRKAG2
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy 6, Hypertrophic cardiomyopathy 6 |
| RS587776644 |
SDHD
|
Health Risk |
Pathogenic |
Pheochromocytoma/paraganglioma syndrome 1, Pheochromocytoma |
| RS587776645 |
SDHD
|
Health Risk |
Pathogenic |
Pheochromocytoma/paraganglioma syndrome 1, Pheochromocytoma/paraganglioma syndrome 1 |
| RS587776646 |
SDHD
|
Health Risk |
Likely pathogenic |
Pheochromocytoma/paraganglioma syndrome 1, Pheochromocytoma/paraganglioma syndrome 1 |
| RS587776648 |
SDHD
|
Health Risk |
Pathogenic |
Pheochromocytoma/paraganglioma syndrome 1, Carney-Stratakis syndrome |
| RS587776649 |
SDHD
|
Health Risk |
Pathogenic |
Carney-Stratakis syndrome, Hereditary cancer-predisposing syndrome |
| RS587776650 |
NBN
|
Health Risk |
Pathogenic |
Microcephaly, normal intelligence and immunodeficiency |
| RS587776651 |
RAB3GAP1
|
Health Risk |
Pathogenic |
Warburg micro syndrome 1, Inborn genetic diseases |
| RS587776652 |
SDHC
|
Health Risk |
Pathogenic |
Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor |
| RS587776653 |
SDHC
|
Health Risk |
Pathogenic |
Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome |
| RS587776654 |
CTSC
|
Health Risk |
Pathogenic |
Papillon-Lefèvre syndrome, Papillon-Lefèvre syndrome |
| RS587776655 |
CTSC
|
Health Risk |
Pathogenic |
Papillon-Lefèvre syndrome, Haim-Munk syndrome |
| RS587776656 |
STK11
|
Health Risk |
Pathogenic |
Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS587776657 |
STK11
|
Health Risk |
Pathogenic |
Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS587776658 |
STK11
|
Health Risk |
Pathogenic/Likely pathogenic |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS587776659 |
STK11
|
Health Risk |
Pathogenic |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS587776660 |
STK11
|
Health Risk |
Pathogenic |
Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS587776661 |
STK11
|
Health Risk |
Pathogenic |
Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS587776662 |
LHX4
|
Health Risk |
Pathogenic |
Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Short stature-pituitary and cerebellar defects-small sella turcica syndrome |
| RS587776663 |
LIG4
|
Health Risk |
Pathogenic |
DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS587776664 |
HESX1
|
Health Risk |
Pathogenic |
PITUITARY HORMONE DEFICIENCY, COMBINED |
| RS587776665 |
CASP8
|
Health Risk |
Pathogenic |
Hepatocellular carcinoma, Hepatocellular carcinoma |
| RS587776666 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, PTEN hamartoma tumor syndrome |
| RS587776667 |
PTEN
|
Health Risk |
Pathogenic |
Endometrial carcinoma, Cowden syndrome 1 |
| RS587776669 |
PTEN
|
Health Risk |
Likely pathogenic |
Cowden syndrome 1, PTEN hamartoma tumor syndrome |
| RS587776670 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, PTEN hamartoma tumor syndrome |
| RS587776671 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, PTEN hamartoma tumor syndrome |
| RS587776672 |
PTEN
|
Health Risk |
Likely pathogenic |
Cowden syndrome 1, PTEN hamartoma tumor syndrome |
| RS587776673 |
PTEN
|
Health Risk |
Pathogenic |
Proteus-like syndrome, PTEN hamartoma tumor syndrome |
| RS587776676 |
HPGD
|
Health Risk |
Pathogenic |
Hypertrophic osteoarthropathy, primary |
| RS587776677 |
SMARCB1
|
Health Risk |
Pathogenic |
Malignant rhabdoid tumor, somatic |
| RS587776678 |
SMARCB1
|
Health Risk |
Pathogenic |
Rhabdoid tumor predisposition syndrome 1, Rhabdoid tumor predisposition syndrome 1 |
| RS587776679 |
SMARCB1
|
Health Risk |
Pathogenic |
SMARCB1-related schwannomatosis, SMARCB1-related schwannomatosis |
| RS587776680 |
IL12RB1
|
Health Risk |
Likely pathogenic |
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| RS587776681 |
PROP1
|
Health Risk |
Pathogenic |
Pituitary hormone deficiency, combined |
| RS587776682 |
PROP1
|
Health Risk |
Pathogenic |
Pituitary hormone deficiency, combined |
| RS587776683 |
PROP1
|
Health Risk |
Pathogenic |
Pituitary hormone deficiency, combined |
| RS587776684 |
ALX1
|
Health Risk |
Pathogenic |
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome, Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome |
| RS587776685 |
FGF14
|
Health Risk |
Pathogenic |
Spinocerebellar ataxia 27A, Spinocerebellar ataxia 27A |
| RS587776686 |
IGFALS
|
Health Risk |
Pathogenic |
Short stature due to primary acid-labile subunit deficiency, Short stature due to primary acid-labile subunit deficiency |
| RS587776687 |
PPARG
|
Health Risk |
Pathogenic |
Carcinoma of colon, Carcinoma of colon |
| RS587776688 |
KARS1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease recessive intermediate B, Charcot-Marie-Tooth disease recessive intermediate B |
| RS587776689 |
PTCH1
|
Health Risk |
Pathogenic |
Basal cell carcinoma, somatic |
| RS587776691 |
PMP22
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease |
| RS587776692 |
CACNA1A
|
Health Risk |
Pathogenic |
Episodic ataxia type 2, Episodic ataxia type 2 |
| RS587776693 |
CACNA1A
|
Health Risk |
Pathogenic |
Episodic ataxia type 2, Episodic ataxia type 2 |
| RS587776694 |
CACNA1A
|
Health Risk |
Pathogenic |
Episodic ataxia type 2, Developmental and epileptic encephalopathy |
| RS587776695 |
CACNA1A
|
Health Risk |
Pathogenic |
Episodic ataxia type 2, Episodic ataxia type 2 |
| RS587776696 |
DMP1
|
Health Risk |
Pathogenic |
Hypophosphatemic rickets, autosomal recessive |
| RS587776697 |
DMP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypophosphatemic rickets, autosomal recessive |
| RS587776698 |
DMP1
|
Health Risk |
Pathogenic |
Hypophosphatemic rickets, autosomal recessive |
| RS587776699 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy |
| RS587776700 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy |
| RS587776701 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Endometrial carcinoma |
| RS587776705 |
MSH6
|
Health Risk |
Pathogenic |
Mismatch repair cancer syndrome 3, Mismatch repair cancer syndrome 3 |
| RS587776706 |
MSH6
|
Health Risk |
Pathogenic |
Mismatch repair cancer syndrome 1, Hereditary cancer-predisposing syndrome |
| RS587776707 |
NKX2-1
|
Health Risk |
Pathogenic |
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS587776708 |
NKX2-1
|
Health Risk |
Pathogenic |
Benign hereditary chorea, Brain-lung-thyroid syndrome |
| RS587776709 |
NKX2-1
|
Health Risk |
Pathogenic/Likely pathogenic |
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS587776710 |
ETV6
|
Health Risk |
Pathogenic |
Acute myeloid leukemia, Acute myeloid leukemia |
| RS587776711 |
LHX3
|
Health Risk |
Pathogenic |
Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS587776712 |
LHX3
|
Health Risk |
Pathogenic |
Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities |
| RS587776713 |
STAT1
|
Health Risk |
Likely pathogenic |
Immunodeficiency 31B, Immunodeficiency 31B |
| RS587776714 |
STAT1
|
Health Risk |
Pathogenic |
Immunodeficiency 31B, Immunodeficiency 31B |
| RS587776715 |
PMS2
|
Health Risk |
Pathogenic |
Mismatch repair cancer syndrome 4, Lynch syndrome |
| RS587776716 |
CDKN2A
|
Health Risk |
Pathogenic; risk factor |
Melanoma, cutaneous malignant |
| RS587776717 |
LRP2
|
Health Risk |
Pathogenic |
Donnai-Barrow syndrome, Donnai-Barrow syndrome |
| RS587776718 |
CNTN1
|
Health Risk |
Pathogenic |
Compton-North congenital myopathy, Compton-North congenital myopathy |
| RS587776719 |
SERPINA7
|
Health Risk |
association |
Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus |
| RS587776720 |
SERPINA7
|
Health Risk |
association |
Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus |
| RS587776721 |
SERPINA7
|
Health Risk |
association |
Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus |
| RS587776722 |
SERPINA7
|
Health Risk |
association |
Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus |
| RS587776723 |
PIGA
|
Health Risk |
Pathogenic |
Paroxysmal nocturnal hemoglobinuria, Paroxysmal nocturnal hemoglobinuria |