| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Adrenocortical carcinoma, hereditary |
Benign |
rs2295997 |
RCV005909586 |
| Basal cell nevus syndrome 1 |
Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity |
rs761307519, rs765876309, rs121434397, rs144193647, rs111471526, rs11573588, rs11573586, rs35851686, rs11573579, rs147627670, rs45573433, rs561781541, rs779438541, rs11573587, rs11573590, rs187485698, rs149379394, rs145066065, rs11573576, rs202184038, rs755775675, rs369481564, rs376337405, rs56024410, rs375651844, rs200873074, rs375844056, rs200862802 View all (13 more) |
RCV005601844 RCV005055204 RCV005055058 RCV005601980 RCV005235163 RCV005235162 RCV005235161 RCV005235160 RCV005235159 RCV005235165 RCV005235166 RCV005235164 RCV004786956 RCV005235330 RCV005235328 RCV005235332 RCV005235331 RCV005235329 RCV005235333 RCV004787836 RCV005235374 RCV005860118 RCV005438367 RCV004788123 RCV005601617 RCV004773206 RCV005055153 RCV005055163 |
| Breast carcinoma |
Uncertain significance |
rs757205202, rs145536878 |
RCV003233038 RCV003233042 |
| Cholangiocarcinoma |
Benign |
rs3795719 |
RCV005916989 |
| Colorectal cancer |
Benign |
rs2295997 |
RCV005909588 |
| Diffuse midline glioma, H3 K27-altered |
Uncertain significance |
rs1052051090 |
RCV003313767 |
| Gastric cancer |
Likely benign; Uncertain significance |
rs11573583, rs760548568 |
RCV005920879 RCV005891092 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs2295997 |
RCV005909587 |
| Medulloblastoma |
Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign |
rs376282577, rs201345708, rs752886480, rs765975927, rs779024571, rs2148874807, rs745653597, rs748846701, rs769826884, rs745450202, rs1557646078, rs56126236, rs200862802, rs34245589, rs45573433, rs1653274378, rs1471334921, rs149133805, rs760056267, rs11573598, rs539161089, rs111283762, rs1030456781, rs747885797, rs149815763, rs80168454, rs900911841, rs56024410, rs777389212, rs768246990, rs778199787, rs758108389, rs369745249, rs144561012, rs1573645770, rs748318921, rs755069524, rs781204167, rs529700882, rs138588008, rs147669300, rs146570996, rs764488358, rs138220875, rs751579508, rs140845138, rs373859654, rs1488300164, rs77102909, rs746898559, rs1652957871, rs777212373 View all (37 more) |
RCV005014459 RCV005023159 RCV005016754 RCV005025622 RCV005016987 RCV005017018 RCV005016844 RCV002484628 RCV005019619 RCV005028297 RCV005021807 RCV000006520 RCV005019549 RCV002494644 RCV005396794 RCV005014751 RCV005014811 RCV005014896 RCV005030244 RCV002475914 RCV000765169 RCV005027621 RCV000765172 RCV000765170 RCV002507055 RCV005392190 RCV005021096 RCV005027852 RCV005027865 RCV000765171 RCV005021137 RCV005021238 RCV005029513 RCV005021227 RCV005029471 RCV005392428 RCV005029458 RCV002487739 RCV005392473 RCV002487887 RCV002495280 RCV005021368 RCV005021342 RCV005021521 RCV005021539 RCV005394827 RCV005029784 RCV005029752 RCV005029816 RCV005014301 RCV005394914 RCV005029877 |
| Oromandibular-limb hypogenesis spectrum |
Uncertain significance; Likely benign |
rs760548568, rs775127172 |
RCV000239932 RCV000240145 |
| Ovarian serous cystadenocarcinoma |
Uncertain significance; Likely benign |
rs369587910, rs200437527 |
RCV005924229 RCV005900104 |
| PTCH2-related disorder |
Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity |
rs200049774, rs973768191, rs746328425, rs569864866, rs188437092, rs141511043, rs138668059, rs151287275, rs370819522, rs58079936, rs757205202, rs756770955, rs143348731, rs771080740, rs372723227, rs1454339215, rs140228016, rs1652979831, rs200862802, rs34245589, rs111471526, rs11573586, rs35851686, rs11573579, rs373737063, rs528473003, rs1441105568, rs754017399, rs758146648, rs1226931959, rs749131299, rs937934029, rs2148874065, rs149133805, rs376657988, rs140921885, rs147284320, rs149379394, rs199655603, rs199998309, rs11573596, rs576830052, rs765764028, rs539161089, rs138324984, rs369083877, rs11573585, rs747885797, rs142187073, rs200366479, rs143534131, rs757344433, rs200329309, rs200293188, rs757012124, rs1573648782, rs112563011, rs138588008, rs772982125, rs11573582, rs11573581, rs200855030, rs55651071, rs147669300, rs368278021, rs61757785, rs781010476, rs11573578, rs138220875 View all (54 more) |
RCV004738259 RCV004548188 RCV004550091 RCV004550111 RCV004550198 RCV004738305 RCV004550255 RCV004738488 RCV004552111 RCV004738430 RCV004738458 RCV004553689 RCV004553655 RCV004550384 RCV004548315 RCV004548340 RCV004550339 RCV004550343 RCV004550342 RCV004547606 RCV004547605 RCV004547604 RCV004547603 RCV004547602 RCV004547621 RCV004548591 RCV004552628 RCV004552587 RCV004554112 RCV004554268 RCV004738768 RCV004550993 RCV004552738 RCV004552722 RCV004552835 RCV004554404 RCV004551559 RCV004737529 RCV004551558 RCV004551557 RCV004551556 RCV004551560 RCV004553169 RCV004737602 RCV004737603 RCV004553168 RCV004553167 RCV004553166 RCV004737906 RCV004547771 RCV004737902 RCV004547767 RCV004547766 RCV004547772 RCV004547769 RCV001824867 RCV004549883 RCV004549917 RCV004549924 RCV004549934 RCV004549921 RCV004549932 RCV004738034 RCV004549949 RCV004549954 RCV004549948 RCV004549953 RCV004549959 RCV004547975 RCV004726983 |
| See cases |
Uncertain significance |
rs900911841 |
RCV002252220 |
| Uterine carcinosarcoma |
Benign |
rs2295997, rs3795719 |
RCV005909589 RCV005916988 |
|