| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Likely benign; Benign |
rs117255969, rs61644407, rs79657649 |
RCV005914959 RCV005896506 RCV005900041 |
| Cervical cancer |
Likely benign |
rs117255969 |
RCV005914961 |
| Cholangiocarcinoma |
Likely benign; Benign |
rs117255969, rs61644407, rs56807006, rs11657527 |
RCV005914964 RCV005896511 RCV005896504 RCV005902329 |
| Colon adenocarcinoma |
Uncertain significance; Benign |
rs750886235, rs61644407, rs79657649 |
RCV005932560 RCV005896505 RCV005900040 |
| Colorectal cancer |
Benign |
rs61644407, rs56807006 |
RCV005896509 RCV005896502 |
| Familial cancer of breast |
Benign |
rs4968100, rs56807006, rs79657649 |
RCV005896495 RCV005896498 RCV005900039 |
| Gastric cancer |
Benign |
rs79657649, rs11657527 |
RCV005900047 RCV005902327 |
| Hepatocellular carcinoma |
Benign |
rs11651340, rs56807006, rs79657649 |
RCV005925194 RCV005896499 RCV005900042 |
| Lung cancer |
Likely benign; Benign |
rs117255969, rs79657649 |
RCV005914965 RCV005900051 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs4968100, rs61644407, rs56807006, rs79657649 |
RCV005896496 RCV005896508 RCV005896501 RCV005900045 |
| Malignant tumor of esophagus |
Likely benign; Benign |
rs117255969, rs79657649 |
RCV005914960 RCV005900043 |
| Malignant tumor of urinary bladder |
Likely benign |
rs201431069 |
RCV005905655 |
| Melanoma |
Benign |
rs79657649 |
RCV005900050 |
| Microcephaly |
Benign; Likely benign |
rs140376049 |
RCV001252817 |
| Neurodevelopmental abnormality |
Uncertain significance |
rs766555766 |
RCV001264688 |
| Nonpapillary renal cell carcinoma |
Benign |
rs79657649 |
RCV005900044 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs11651340, rs79657649 |
RCV005925195 RCV005900048 |
| Sarcoma |
Likely benign; Benign |
rs117255969, rs79657649 |
RCV005914962 RCV005900046 |
| Thymoma |
Likely benign; Benign |
rs117255969, rs61644407 |
RCV005914963 RCV005896510 |
| Thyroid cancer, nonmedullary, 1 |
Benign |
rs79657649 |
RCV005900049 |
| Uterine carcinosarcoma |
Benign |
rs4968100, rs56807006, rs11657527 |
RCV005896497 RCV005896503 RCV005902328 |
| Uterine corpus endometrial carcinoma |
Likely benign; Benign |
rs117255969, rs79657649, rs11657527 |
RCV005914966 RCV005900052 RCV005902330 |
| Uveal melanoma |
Benign |
rs61644407, rs56807006 |
RCV005896507 RCV005896500 |
| VPS53-related disorder |
Benign; Likely benign |
rs377274469, rs368549321, rs370664941, rs377280066, rs199603380, rs1435586330, rs368182133, rs753126096, rs1337769894, rs61099969, rs16953156, rs145601260, rs376440772, rs573812629, rs374400243 |
RCV003956288 RCV003954236 RCV003966492 RCV003946738 RCV003901814 RCV003952126 RCV003957131 RCV003983742 RCV003969591 RCV003922781 RCV003912658 RCV003922787 RCV003950511 RCV003968246 RCV003942950 |