| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
Evidence Score |
| Acute myeloid leukemia |
Pathogenic; Likely pathogenic |
rs112445441, rs121913529, rs606231202, rs104894366, rs730880471 |
RCV005887479 RCV000433573 RCV000013415 RCV000850569 RCV000850568 |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Adenocarcinoma of the large intestine |
Likely pathogenic; Pathogenic |
rs121913530, rs112445441, rs121913529 |
RCV006253513 RCV006253517 RCV006253525 RCV006253529 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Adenoid cystic carcinoma |
Likely pathogenic; Pathogenic |
rs121913530 |
RCV004813033 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Alveolar rhabdomyosarcoma |
Likely pathogenic; Pathogenic |
rs121913529 |
RCV006253520 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Atypical endometrial hyperplasia |
Likely pathogenic; Pathogenic |
rs121913529 |
RCV003327361 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Autoimmune lymphoproliferative syndrome type 4 |
Pathogenic; Likely pathogenic |
rs112445441, rs121913529, rs104894366, rs121913527, rs730880471, rs121913535 |
RCV000144968 RCV000144970 RCV000850569 RCV002259922 RCV000850568 RCV000144972 View all (1 more) |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Bladder cancer, transitional cell, somatic |
Pathogenic |
rs121913528 |
RCV000013410 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Breast adenocarcinoma |
Pathogenic |
rs112445441 |
RCV000013409 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Capillary malformation-arteriovenous malformation 1 |
Likely pathogenic; Pathogenic |
rs121913529 |
RCV001799604 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Capillary Telangiectasia, Brain |
Pathogenic |
rs2141509932 |
RCV001526874 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Carcinoma of pancreas |
Likely pathogenic; Pathogenic |
rs121913529 |
RCV000013411 RCV000013413 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Cardio-facio-cutaneous syndrome |
Pathogenic; Likely pathogenic |
rs397517042, rs727503109, rs727503108, rs387907205, rs104894359, rs104894360, rs104894365, rs104894366 |
RCV000150884 RCV000844636 RCV000157936 RCV000221667 RCV000521390 RCV000844634 RCV000844637 RCV000211723 View all (3 more) |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Cardiofaciocutaneous syndrome 1 |
Likely pathogenic; Pathogenic |
rs727503109 |
RCV000856729 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Cardiofaciocutaneous syndrome 2 |
Likely pathogenic; Pathogenic |
rs2548920539, rs121913530, rs104894359, rs104894360, rs104894366, rs104894361, rs104894362, rs387907205, rs387907206, rs727503110, rs730880471 |
RCV003140510 RCV004795403 RCV000013416 RCV000013417 RCV000043674 RCV000013425 RCV000013426 RCV002470709 RCV000024617 RCV000024618 RCV000576784 RCV000850568 View all (7 more) |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Cardiovascular phenotype |
Likely pathogenic; Pathogenic |
rs727503109, rs121913529, rs104894360, rs104894365, rs2141506236 |
RCV002444616 RCV004018620 RCV004018621 RCV005647456 RCV004519282 |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Cerebral arteriovenous malformation |
Likely pathogenic; Pathogenic |
rs121913529, rs17851045 |
RCV000585796 RCV000585801 RCV003445113 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Cervical cancer |
Pathogenic |
rs112445441 |
RCV005887481 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Chronic myelogenous leukemia, BCR-ABL1 positive |
Pathogenic |
rs121913529 |
RCV002291496 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Colon adenocarcinoma |
Pathogenic |
rs121913238 |
RCV005888473 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Colorectal cancer |
Pathogenic; Likely pathogenic |
rs112445441, rs121913529, rs104894365, rs770248150 |
RCV005887482 RCV006250158 RCV006250159 RCV006250160 RCV005603620 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Congenital Pulmonary Airway Malformations |
Likely pathogenic; Pathogenic |
rs121913529 |
RCV004554600 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Diffuse midline glioma, H3 K27M-mutant |
Pathogenic; Likely pathogenic |
rs112445441, rs121913529 |
RCV006253516 RCV006253524 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
Likely pathogenic; Pathogenic |
rs121913530, rs121913529 |
RCV006253512 RCV006253523 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Embryonal rhabdomyosarcoma |
Likely pathogenic; Pathogenic |
rs121913530, rs112445441, rs121913529, rs770248150, rs121913236 |
RCV006253511 RCV006253515 RCV006253522 RCV006253962 RCV006253998 |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Encephalocraniocutaneous lipomatosis |
Pathogenic; Likely pathogenic |
rs121913538, rs112445441, rs121913529, rs1057519725, rs770248150 |
RCV001839449 RCV001839444 RCV001839445 RCV001839452 RCV001731671 |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Endometrial carcinoma |
Likely pathogenic; Pathogenic |
rs121913530, rs104894365 |
RCV000119791 RCV000119792 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Endometrial hyperplasia without atypia |
Likely pathogenic; Pathogenic |
rs121913529 |
RCV003327361 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Epidermal nevus |
Likely pathogenic; Pathogenic |
rs121913529 |
RCV000022799 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Familial pancreatic carcinoma |
Pathogenic; Likely pathogenic |
rs112445441, rs1057519725 |
RCV004813034 RCV004760489 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Gallbladder cancer |
Likely pathogenic; Pathogenic |
rs121913530, rs121913529 |
RCV001292543 RCV001374446 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Gastric cancer |
Likely pathogenic; Pathogenic |
rs121913529, rs121913530 |
RCV002508117 RCV000013414 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Germinoma |
Pathogenic |
rs121913529, rs121913240 |
RCV006253528 RCV006253742 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Glioma |
Likely pathogenic; Pathogenic |
rs121913529 |
RCV006253521 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Hereditary breast ovarian cancer syndrome |
Likely pathogenic |
rs2141481712 |
RCV001374475 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| High-grade astrocytoma with piloid features |
Likely pathogenic; Pathogenic |
rs121913236, rs121913529 |
RCV006254000 RCV006253744 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Juvenile myelomonocytic leukemia |
Pathogenic; Likely pathogenic |
rs112445441, rs121913529, rs121913530 |
RCV000144967 RCV000144969 RCV000150895 RCV000144971 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| KRAS-related disorder |
Likely pathogenic; Pathogenic |
rs727503109, rs112445441, rs104894360, rs104894362, rs193929331, rs104894366, rs121913529, rs121913535, rs1592798693 |
RCV004551310 RCV004549358 RCV006261936 RCV004549359 RCV004549360 RCV004550646 RCV004739314 RCV004549454 RCV003335071 RCV005225146 View all (5 more) |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| KRAS-related RASopathy |
Likely pathogenic |
rs730880471 |
RCV001269478 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Linear nevus sebaceous syndrome |
Likely pathogenic; Pathogenic |
rs121913529, rs121913236 |
RCV000029215 RCV003455987 RCV001078206 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Low grade glioma |
Likely pathogenic; Pathogenic |
rs121913236 |
RCV006253999 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Lung adenocarcinoma |
Likely pathogenic |
rs121913530 |
RCV000431049 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Lung cancer |
Likely pathogenic; Pathogenic |
rs121913530, rs121913529 |
RCV003996092 RCV003996396 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Lung carcinoma |
Likely pathogenic |
rs121913530 |
RCV000013406 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Lung sarcomatoid carcinoma |
Pathogenic |
rs121913529 |
RCV003322589 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Malignant tumor of urinary bladder |
Likely pathogenic; Pathogenic |
rs121913530, rs112445441, rs1057519725 |
RCV000013408 RCV005887480 RCV003332167 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Medullary thyroid carcinoma |
Pathogenic |
rs121913240 |
RCV004813050 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Medulloblastoma non-WNT/non-SHH |
Likely pathogenic; Pathogenic |
rs121913529 |
RCV006253526 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Melanoma |
Pathogenic |
rs112445441 |
RCV005887483 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Multiple myeloma |
Likely pathogenic; Pathogenic |
rs121913527, rs121913240, rs121913529 |
RCV000984134 RCV000984128 RCV000984117 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Neoplasm |
Likely pathogenic; Pathogenic |
rs121913530, rs112445441, rs121913529, rs121913538, rs121913236, rs121913240 |
RCV004668721 RCV004668722 RCV004668723 RCV004668724 RCV004668725 RCV004668726 RCV004668928 RCV005230296 RCV004668757 RCV004668758 View all (5 more) |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Neuroblastoma |
Pathogenic |
rs121913530 |
RCV006253531 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Nevus sebaceous |
Pathogenic; Likely pathogenic |
rs112445441, rs121913529 |
RCV001526657 RCV000029214 RCV000029216 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Non-small cell lung carcinoma |
Likely pathogenic; Pathogenic |
rs727503106, rs121913238, rs727503108, rs397517040, rs121913530, rs112445441, rs121913529, rs121913535, rs121913240, rs17851045 |
RCV000150887 RCV000154402 RCV000150889 RCV000150894 RCV000038265 RCV000154401 RCV000038269 RCV000150896 RCV000154262 RCV000038264 RCV000038267 RCV000038258 RCV000038259 RCV000038266 RCV000038268 RCV000038270 View all (11 more) |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Noonan syndrome |
Pathogenic; Likely pathogenic |
rs397517042, rs727504662, rs727503109, rs727503108, rs104894359, rs104894360, rs104894364, rs104894365, rs104894366, rs193929331, rs727503110, rs397517041, rs1951405479, rs1592798693 |
RCV000150884 RCV000155926 RCV000844636 RCV000157936 RCV000844635 RCV000844634 RCV000211785 RCV000844637 RCV000211723 RCV000605141 RCV000150893 RCV000150892 RCV000038274 RCV000038273 RCV000038275 RCV001261057 RCV001261058 View all (12 more) |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Noonan syndrome 1 |
Likely pathogenic; Pathogenic |
rs202247812, rs104894360, rs104894366 |
RCV000144422 RCV003450634 RCV003450654 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Noonan syndrome 3 |
Likely pathogenic; Pathogenic |
rs2141509652, rs2135806030, rs2141509973, rs397517042, rs1135401776, rs104894359, rs104894360, rs104894364, rs104894365, rs104894366, rs104894367, rs193929331, rs2141509883, rs1555194026, rs727503110, rs730880471, rs1592798693, rs1951405809 View all (3 more) |
RCV002221879 RCV002264903 RCV002264904 RCV001813760 RCV002468736 RCV003313917 RCV000013418 RCV000013419 RCV000013420 RCV000850569 RCV000013422 RCV000013427 RCV000013428 RCV004566627 RCV000496202 RCV000505640 RCV000576784 RCV003152670 RCV000850568 RCV000789016 RCV001264745 View all (16 more) |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Noonan syndrome and Noonan-related syndrome |
Pathogenic |
rs112445441, rs104894365 |
RCV001813183 RCV001813184 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| OCULOECTODERMAL SYNDROME, SOMATIC |
Pathogenic; Likely pathogenic |
rs121913538, rs112445441, rs1057519725 |
RCV000201922 RCV000791297 RCV000791299 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Ovarian mucinous adenocarcinoma |
Likely pathogenic; Pathogenic |
rs121913530, rs121913529 |
RCV006253514 RCV006253527 RCV006253530 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Ovarian neoplasm |
Likely pathogenic; Pathogenic |
rs121913529, rs121913530 |
RCV000150897 RCV000119790 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Papillary thyroid carcinoma |
Likely pathogenic; Pathogenic |
rs121913529 |
RCV006253519 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Pilocytic astrocytoma |
Pathogenic; Likely pathogenic |
rs121913535, rs121913236, rs121913529 |
RCV000013424 RCV006253997 RCV006253743 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Precursor B-cell acute lymphoblastic leukemia |
Likely pathogenic; Pathogenic |
rs121913529 |
RCV006253518 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Primary intracranial sarcoma, DICER1-mutant |
Pathogenic |
rs770248150 |
RCV006253963 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Primary low grade serous adenocarcinoma of ovary |
Likely pathogenic; Pathogenic |
rs121913529 |
RCV000856666 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Prostate cancer, hereditary, 1 |
Likely pathogenic; Pathogenic |
rs193929331 |
RCV002291547 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| RASopathy |
Likely pathogenic; Pathogenic |
rs727504662, rs727503109, rs727503108, rs193929331, rs121913538, rs2135806346, rs121913530, rs112445441, rs121913529, rs104894359, rs104894360, rs104894364, rs104894365, rs104894366, rs104894361, rs104894362, rs2548909825, rs2141505570, rs2141509883, rs1057519725, rs121913527, rs121913236, rs1555194026, rs727503110 View all (9 more) |
RCV001315183 RCV001857536 RCV000150891 RCV001850055 RCV002833819 RCV003654222 RCV003230833 RCV003654176 RCV002513010 RCV001857340 RCV000548006 RCV003539760 RCV001851824 RCV000157935 RCV000157940 RCV000704828 RCV000157945 RCV001851825 RCV005252032 RCV001205658 RCV000149836 RCV000689097 RCV003539689 RCV003540291 RCV003655814 RCV002524688 RCV001861474 RCV005090693 RCV000680027 RCV000654936 RCV000157946 RCV000232330 RCV000526276 View all (28 more) |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Rhabdomyosarcoma |
Pathogenic |
rs121913530 |
RCV006253532 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Squamous cell lung carcinoma |
Likely pathogenic; Pathogenic |
rs121913530 |
RCV000013407 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Thyroid cancer, nonmedullary, 1 |
Likely pathogenic; Pathogenic |
rs2141505552, rs121913238 |
RCV001789706 RCV005888474 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Vascular malformation |
Pathogenic; Likely pathogenic |
rs121913530, rs2548920482, rs121913236, rs17851045 |
RCV004562205 RCV003458962 RCV005251123 RCV005251049 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Vascular Tumors Including Pyogenic Granuloma |
Likely pathogenic; Pathogenic |
rs121913529 |
RCV000662266 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Venous malformation |
Likely pathogenic |
rs2141509708 |
RCV001533002 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |