| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign |
rs41275500, rs7555034 |
RCV005927930 RCV005902753 |
| Adrenocortical carcinoma, hereditary |
Benign |
rs41275500 |
RCV005927931 |
| Cholangiocarcinoma |
Benign |
rs41275500 |
RCV005927937 |
| CLCN6-related disorder |
Likely benign; Uncertain significance |
rs991608250, rs573846885, rs556741884 |
RCV003893088 RCV003956435 RCV003402130 |
| Clear cell carcinoma of kidney |
Benign |
rs7555034 |
RCV005902754 |
| Colon adenocarcinoma |
Benign |
rs41275500 |
RCV005927929 |
| Familial pancreatic carcinoma |
Benign |
rs7555034 |
RCV005902755 |
| Gastric cancer |
Likely benign |
rs200899004 |
RCV005920938 |
| Lung cancer |
Benign |
rs199523807 |
RCV005926004 |
| Lymphoma |
Benign |
rs7555034 |
RCV005902757 |
| Malignant lymphoma, large B-cell, diffuse |
Likely benign; Benign |
rs770083031, rs41275500 |
RCV005925962 RCV005927933 |
| Melanoma |
Benign |
rs41275500 |
RCV005927936 |
| Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities |
Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity |
rs1644980766, rs198400, rs754881055, rs1427375048, rs2100652714, rs2523117082, rs2523157665, rs770682558, rs2523129241, rs2523084510, rs200061168, rs2523084178, rs1644918844 |
RCV005631004 RCV003348809 RCV002273121 RCV002288398 RCV002471636 RCV003992685 RCV003225824 RCV003145036 RCV003145037 RCV005631219 RCV005860399 RCV003990708 RCV001291033 |
| Nonpapillary renal cell carcinoma |
Benign |
rs199523807 |
RCV005926000 |
| Ovarian cancer |
Benign |
rs199523807 |
RCV005926001 |
| Ovarian serous cystadenocarcinoma |
Likely benign; Benign |
rs200899004, rs199523807, rs7555034 |
RCV005920939 RCV005926002 RCV005902758 |
| Papillary renal cell carcinoma type 1 |
Uncertain significance |
rs762797912 |
RCV005931546 |
| Sarcoma |
Benign |
rs41275500, rs7555034 |
RCV005927934 RCV005902756 |
| See cases |
Uncertain significance |
rs761387681, rs1163943370 |
RCV002252746 RCV002287726 |
| Thymoma |
Benign |
rs199523807, rs41275500 |
RCV005926003 RCV005927935 |
| Uterine corpus endometrial carcinoma |
Benign |
rs7555034 |
RCV005902759 |
| Uveal melanoma |
Benign |
rs41275500 |
RCV005927932 |