Table 1. Number of candidate variants after different review stages.
| Number of Candidate Variants | |||||||
|---|---|---|---|---|---|---|---|
| Diseases | MIM Disorder | Genes | MIM Gene | Extracted from 1000 Genomes | After Filtering | After Literature Screening | After Specialist Review |
| Hereditary breast and ovarian cancer | 604370 | BRCA1 * | 113705 | 879 | 15 | ||
| 612555 | BRCA2 * | 600185 | 1093 | 22 | 1 | 1 | |
| Li-Fraumeni syndrome | 151623 | TP53 * | 191170 | 331 | 4 | 1 | 1 |
| Peutz-Jeghers syndrome | 175200 | STK11 * | 602216 | 485 | . | ||
| Lynch syndrome | 609310 | MLH1 * | 120436 | 923 | 8 | 1 | |
| 120435 | MSH2 * | 609309 | 2649 | 6 | |||
| 614350 | MSH6 * | 600678 | 1673 | 2 | |||
| 614337 | PMS2 * | 600259 | 459 | . | |||
| Familial adenomatous polyposis | 175100 | APC * | 611731 | 2057 | 11 | ||
| MYH-associated polyposis; adenomas, multiple colorectal FAP type 2; colorectal adenomatous polyposis, autosomal recessive with pilomatricomas | 608456, 132600 | MUTYH * | 604933 | 150 | 5 | ||
| Von Hippel-Lindau disease | 193300 | VHL * | 608537 | 189 | 1 | ||
| Multiple endocrine neoplasia, type 1 | 131100 | MEN1 * | 613733 | 76 | 1 | ||
| Multiple endocrine neoplasia, type 2 | 171400, 162300 | RET | 164741 | 734 | 6 | ||
| Familial medullary thyroid cancer | 1552401 | RET | 164761 | (above) | |||
| PTEN hamartoma tumor syndrome | 153480 | PTEN * | 601728 | 1250 | . | ||
| Retinoblastoma | 180200 | RB1 * | 614041 | 2127 | 3 | ||
| Hereditary paraganglioma- pheochromocytoma syndrome | 168000 (PGL1) | SDHD * | 602690 | 402 | . | ||
| 601650 (PGL2) | SDHAF2 | 613019 | 225 | . | |||
| 605373 (PGL3) | SDHC * | 602413 | 753 | . | |||
| 115310 (PGL4) | SDHB * | 185470 | 409 | 6 | 1 | ||
| Tuberous sclerosis complex | 191100 | TSC1 * | 605284 | 680 | 3 | ||
| 613254 | TSC2 * | 191092 | 708 | 3 | |||
| WT1-related Wilms tumor | 194070 | WT1 * | 607102 | 711 | 2 | ||
| Neurofibromatosis type 2 | 101100 | NF2 * | 607379 | 1034 | 2 | ||
| Ehlers–Danlos syndrome, vascular type | 130050 | COL3A1 * | 120180 | 475 | 3 | ||
| Marfan syndrome, Loeys–Dietz syndromes, and familial thoracic aortic aneurysms and dissections | 154700 | FBN1 * | 134797 | 2999 | 11 | ||
| 609192 | TGFBR1 * | 190181 | 629 | . | |||
| 608967 | TGFBR2 * | 190182 | 1282 | 1 | |||
| 610168 | SMAD3 * | 603109 | 1836 | . | |||
| 610380 | ACTA2 * | 102620 | 728 | . | |||
| 613795 | MYLK * | 600922 | 3650 | . | |||
| 611788 | MYH11 * | 160745 | 2521 | 2 | |||
| Hypertrophic cardiomyopathy, dilated cardiomyopathy | 115197 | MYBPC3 * | 600958 | 219 | 7 | ||
| 192600 | MYH7 | 160760 | 343 | 7 | 1 | ||
| 601494 | TNNT2 * | 191045 | 304 | . | |||
| 613690 | TNNI3 | 191044 | 106 | 1 | |||
| 115196 | TPM1 | 191010 | 445 | . | |||
| 608751 | MYL3 | 160790 | 273 | 2 | |||
| 612098 | ACTC1 | 102540 | 128 | . | |||
| 600858 | PRKAG2 | 602743 | 5343 | . | |||
| 301500 | GLA * | 300644 | 94 | . | |||
| 608758 | MYL2 | 160781 | 148 | . | |||
| 115200 | LMNA * | 150330 | 591 | 2 | |||
| Catecholaminergic polymorphic ventricular tachycardia | 604772 | RYR2 | 180902 | 11765 | 6 | 1 | 1 |
| Arrhythmogenic right-ventricular cardiomyopathy | 609040 | PKP2 * | 602861 | 1413 | 7 | 1 | 1 |
| 604400 | DSP * | 125647 | 637 | 8 | |||
| 610476 | DSC2 * | 125645 | 426 | 3 | |||
| 607450 | TMEM43 | 612048 | 278 | 1 | |||
| 610193 | DSG2 * | 125671 | 660 | 3 | |||
| Romano-Ward Long QT Syndromes Types 1,2, and 3, Brugada Syndrome | 192500 | KCNQ1 * | 607542 | 5974 | 3 | ||
| 613688 | KCNH2 * | 152427 | 403 | 4 | 1 | 1 | |
| 603830, 601144 | SCN5A * | 600163 | 1452 | 18 | 2 | ||
| Familial hypercholesterolemia | 143890 | LDLR * | 606945 | 645 | 19 | 5 | 1 |
| 603776 | APOB | 107730 | 653 | 4 | |||
| PCSK9 | 607786 | 446 | 3 | ||||
| Malignant hyperthermia susceptibility | 145600 | RYR1 | 180901 | 2335 | 20 | ||
| CACNA1S | 114208 | 1237 | 2 | ||||
| Total | 70,435 | 237 | 15 | 7 | |||
* Genes for which novel, expected pathogenic variants should be returned.