| Diagnosis | Omim Number | Sample Count |
| ABETALIPOPROTEINEMIA; ABL | 200100 | 3 |
| ACHONDROGENESIS, TYPE II; ACG2 | 200610 | 1 |
| ACHONDROPLASIA; ACH | 100800 | 7 |
| ACHROMATOPSIA 2; ACHM2 | 216900 | 1 |
| ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ | 201100 | 2 |
| ACUTE LYMPHOCYTIC LEUKEMIA | 187040 | 7 |
| ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | 201450 | 18 |
| ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF | 201470 | 4 |
| ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF | 201475 | 6 |
| ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD | 201475 | 1 |
| ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD | | 11 |
| ADENOCARCINOMA OF THE ENDOMETRIUM | | 1 |
| ADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY | | 7 |
| ADENOSINE DEAMINASE DEFICIENCY, PARTIAL | 102700 | 1 |
| ADENYLATE KINASE 1; AK1 | 103000 | 1 |
| ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | 201910 | 8 |
| ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY | 201810 | 2 |
| ADRENAL HYPOPLASIA, CONGENITAL; AHC | 300200 | 12 |
| ADRENAL HYPOPLASIA, CONGENITAL; AHC | 300200 | 5 |
| ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM | 202370 | 8 |
| ADRENOLEUKODYSTROPHY; ALD | 300100 | 16 |
| AGAMMAGLOBULINEMIA, X-LINKED; XLA | | 2 |
| ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; AAMR | | 5 |
| ALAGILLE SYNDROME 1; ALGS1 | 118450 | 15 |
| ALBINISM, OCULOCUTANEOUS, TYPE 1A; OCA1A | 203100 | 4 |
| ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2 | 203200 | 2 |
| ALBINISM: TYPE UNKNOWN | | 2 |
| ALEXANDER DISEASE | 203450 | 3 |
| ALKAPTONURIA | 203500 | 1 |
| ALLERGIC ASTHMATIC | | 1 |
| ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD | | 10 |
| ALPHA-THALASSEMIA | | 5 |
| ALZHEIMER DISEASE, FAMILIAL, TYPE 3 | 607822 | 171 |
| ALZHEIMER DISEASE, FAMILIAL, TYPE 4 | 606889 | 7 |
| ALZHEIMER DISEASE; AD | 104300 | 360 |
| AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | 105210 | 2 |
| AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 | 105400 | 2123 |
| ANDROGEN INSENSITIVITY SYNDROME; AIS | 300068 | 10 |
| ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY | | 12 |
| ANENCEPHALY | 206500 | 2 |
| ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC | | 43 |
| ANEUPLOID CHROMOSOME NUMBER - TRISOMY | | 21 |
| ANEUPLOID CHROMOSOME NUMBER - TRISOMY 13 | | 6 |
| ANEUPLOID CHROMOSOME NUMBER - TRISOMY 18 | | 13 |
| ANEUPLOID CHROMOSOME NUMBER - TRISOMY 8 | | 5 |
| ANEUPLOID CHROMOSOME NUMBER - TRISOMY 9 | | 11 |
| ANGELMAN SYNDROME; AS | 105830 | 14 |
| ANIRIDIA 1; AN1 | 106210 | 5 |
| ANIRIDIA, GENITOURINARY ABNORMALITIES, & VASCULITIS | | 1 |
| ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE | 106260 | 1 |
| APERT SYNDROME | 101200 | 2 |
| APOLIPOPROTEIN C-II DEFICIENCY | 207750 | 1 |
| ARGININEMIA | 207800 | 9 |
| ARGININOSUCCINIC ACIDURIA | 207900 | 30 |
| ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY | 208000 | 6 |
| ARTERIOVENOUS FISTULAS | 108010 | 12 |
| ASPARTYLGLUCOSAMINURIA | 208400 | 7 |
| ASPHYXIATING THORACIC DYSTROPHY; ATD | 208500 | 2 |
| ATAXIA-PANCYTOPENIA SYNDROME; ATXPC | 159550 | 1 |
| ATAXIA-TELANGIECTASIA; AT | 208900 | 201 |
| ATP SYNTHASE 6; MTATP6 | 516060 | 1 |
| ATR-X SYNDROME | 301040 | 2 |
| ATRANSFERRINEMIA | 209300 | 5 |
| ATRIOVENTRICULAR SEPTAL DEFECT; AVSD | 600309 | 5 |
| AUTISTIC DISORDER | 209850 | 183 |
| AVM-RUPTURED | 108010 | 236 |
| AVM-UNRUPTURED | 108010 | 257 |