| Adenocarcinoma of large intestine |
C1319315 |
APC
|
Causal
Pathogenic evidence from ClinVar
|
30510241 |
ClinVar |
|
ATM
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
AXIN2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
BRCA2
|
Causal
Pathogenic evidence from ClinVar
|
27197191 |
ClinVar |
|
CHEK2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MLH1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MLH3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MSH2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MSH6
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MUTYH
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PALB2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
POLE
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Colorectal Carcinoma |
C0009402 |
APC
|
Causal
Pathogenic evidence from ClinVar
|
9288102, 9724771, 9731533, 11159880, 12907644, 17116713, 18716850, 19309276, 21291235, 21531761, 21967605, 23896379, 30510241 |
ClinVar |
|
AXIN2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
BRCA2
|
Causal
Pathogenic evidence from ClinVar
|
27165003, 27197191 |
ClinVar |
|
BUB1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CHEK2
|
Causal
Pathogenic evidence from ClinVar
|
12690581 |
ClinVar |
|
MLH1
|
Causal
Pathogenic evidence from ClinVar
|
8872463, 9032648, 9087566, 9611074, 10598809, 10882759, 12132870, 12655564, 14504054, 15184898, 18033691, 18205192, 18497967, 18718023, 18949393, 20020535, 22753075 |
ClinVar |
|
MLH3
|
Causal
Pathogenic evidence from ClinVar
|
17656264 |
ClinVar |
|
MSH2
|
Causal
Pathogenic evidence from ClinVar
|
9559627, 12792735, 14504054, 15996210, 18949393 |
ClinVar |
|
MSH6
|
Causal
Pathogenic evidence from ClinVar
|
10413423, 10537275, 10699937, 11153917, 11470537, 11709755, 11807791, 12522549, 14520694, 14961575, 15483016, 22102614 |
ClinVar |
|
MUTYH
|
Causal
Pathogenic evidence from ClinVar
|
11818965, 15236166, 15366000, 15635083, 15931596, 16140997, 16557584, 17122612, 17368238, 18534194, 19032956, 19245865, 19394335, 19531215, 19732775, 19836313, 20725929, 20848659, 21443744, 22703879, 22744763, 23605219 |
ClinVar |
|
NFE2L2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PLA2G2A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
POLD1
|
Causal
Pathogenic evidence from ClinVar
|
23263490 |
ClinVar |
|
POLE
|
Causal
Pathogenic evidence from ClinVar
|
23263490, 26053496 |
ClinVar |
| Hereditary Nonpolyposis Colorectal Cancer |
C1333990 |
APC
|
Causal
Pathogenic evidence from ClinVar
|
7661930 |
ClinVar |
|
ATM
|
Causal
Pathogenic evidence from ClinVar
|
23154512, 24512911, 25368522, 27978560, 28093285, 28135145 |
ClinVar |
|
CHEK2
|
Causal
Pathogenic evidence from ClinVar
|
12690581, 15818573, 15829956, 16478982, 18676774, 18679694, 18996005, 19876921, 21807500, 24976383, 27900359, 28135145 |
ClinVar |
|
MLH1
|
Causal
Pathogenic evidence from ClinVar
|
16, 1522200, 7704024, 8521398, 8566964, 8571956, 8574961, 8776590, 8797773, 8872463, 8880570, 8993976, 9032648, 9218993, 9298827, 9311737, 9377556, 9697702, 9718327, 9777949, 9833759, 10037723, 10082584, 10323887, 10422993, 10448273, 10480359, 10495924, 10713887, 10732761, 10777691, 10874307, 10882759, 10995807, 11093816, 11112663, 11306449, 11385712, 11427529, 11429708, 11507050, 11524701, 11555625, 11585727, 11601928, 11606497, 11781295, 11920458, 11920650, 11948175, 12183410, 12362047, 12373605, 12377806, 12419761, 12513688, 12522551, 12537657, 12547705, 12618391, 12624141, 12655568, 12658575, 12810663, 12919137, 12919140, 14526391, 14574010, 14635101, 14756672, 14762794, 14871975, 14961575, 15253764, 15300854, 15345113, 15365995, 15475387, 15555211, 15563510, 15613555, 15713769, 15731775, 15786548, 15845562, 15849733, 15849752, 15855432, 15864295, 15872200, 15955785, 15996210, 16034045, 16083711, 16181381, 16206289, 16216036, 16341550, 16341804, 16395668, 16451135, 16636019, 16736289, 16810763, 16830052 |
ClinVar |
|
MLH3
|
Causal
Pathogenic evidence from ClinVar
|
12702580, 16204034, 16322221, 17203173, 18521850, 19156873, 19483466 |
ClinVar |
|
MSH2
|
Causal
Pathogenic evidence from ClinVar
|
7726159, 8062247, 8261515, 8521394, 8566964, 8581513, 8589682, 8706033, 8776590, 8872463, 8880570, 9036882, 9052445, 9087566, 9311737, 9559627, 9718327, 9739019, 9774676, 10080150, 10196371, 10413423, 10422993, 10432927, 10469597, 10523644, 10564582, 10874318, 10995807, 11074494, 11179758, 11208710, 11291077, 11304573, 11306449, 11524701, 11601928, 11772966, 11809679, 11879922, 11920650, 12067992, 12112654, 12124176, 12173039, 12362047, 12373605, 12386821, 12414824, 12547705, 12624141, 12658575, 12702580, 12875840, 14574162, 14635101, 14729822, 14756672, 14961575, 15042510, 15235030, 15235034, 15235038, 15365995, 15571801, 15655560, 15680406, 15713769, 15845562, 15849733, 15855432, 15872200, 15926618, 15929773, 15942939, 15955785, 16034045, 16143124, 16175654, 16181381, 16203774, 16216036, 16327991, 16395668, 16451135, 16500024, 16639607, 16807412, 16810763, 16995940, 17101317, 17250661, 17250671, 17312306, 17348456, 17440950, 17453009, 17473388, 17569143, 17594722, 17720936, 17939062, 18033691, 18270343, 182 |
ClinVar |
|
MSH6
|
Causal
Pathogenic evidence from ClinVar
|
7604264, 7604265, 9307272, 9354786, 9390556, 9774676, 9819445, 9929971, 10508506, 10521294, 10537275, 10545954, 10699937, 10938287, 11245474, 11470537, 11479205, 11586295, 11641390, 11709755, 11807791, 11900875, 12732731, 14520694, 14961575, 14974087, 15098177, 15236168, 15483016, 15805151, 15837969, 15872200, 16010685, 16034045, 16203774, 16283884, 16418736, 16525781, 16807412, 16885385, 17117178, 17453009, 17557300, 18176851, 18269114, 18301448, 18307539, 18409202, 18415027, 18417481, 18550572, 18566915, 18625694, 18790734, 18809606, 19072991, 19459153, 19526325, 19659577, 19698169, 19851887, 19931546, 20007843, 20028993, 20045164, 20379851, 20487569, 20587412, 20591884, 20924129, 20937110, 21056691, 21081928, 21155762, 21247423, 21642682, 21671081, 21674763, 21836479, 21868491, 22006311, 22081473, 22102614, 22219001, 22250089, 22480969, 22658618, 22691310, 22810696, 22949379, 23047549, 23263490, 23621914, 23700467, 23733757, 23990280, 24068316, 24100870, 24278394, 24323032, 24362816, 24434690, 24440087, 24 |
ClinVar |
|
PALB2
|
Causal
Pathogenic evidence from ClinVar
|
23715323, 25980754, 26681312, 27329137, 27978560, 28818916, 29478780 |
ClinVar |
| Colorectal cancer, hereditary nonpolyposis, type 1 |
C2936783 |
ATM
|
Causal
Pathogenic evidence from ClinVar
|
23154512, 24512911, 25368522, 27978560, 28093285, 28135145 |
ClinVar |
|
CHEK2
|
Causal
Pathogenic evidence from ClinVar
|
12690581, 15818573, 15829956, 16478982, 18676774, 18679694, 18996005, 19876921, 21807500, 24976383, 27900359, 28135145 |
ClinVar |
|
MLH1
|
Causal
Pathogenic evidence from ClinVar
|
14517962 |
ClinVar |
|
MLH3
|
Causal
Pathogenic evidence from ClinVar
|
16204034, 16322221, 17203173, 18521850, 19156873, 19483466 |
ClinVar |
|
MSH2
|
Causal
Pathogenic evidence from ClinVar
|
7585065, 7874129, 8261515, 8592341, 8700523, 8797773, 8872463, 9048925, 9240418, 9298827, 9311737, 9419403, 9559627, 9621522, 9718327, 9889267, 10375096, 10386556, 10528862, 10573010, 10612836, 10777691, 10829038, 10874318, 11726306, 11870161, 11920458, 11920650, 12112654, 12124176, 12132870, 12200596, 12352241, 12362047, 12373605, 12537652, 12624141, 12626904, 12655564, 12655568, 12658575, 14574162, 14594944, 14635101, 15046096, 15235030, 15235034, 15300854, 15342696, 15365995, 15613555, 15655560, 15680406, 15713769, 15849733, 15870828, 15872200, 15896463, 15955785, 15991314, 15991316, 15996210, 16175654, 16395668, 16451135, 17101317, 17128465, 17312306, 17453009, 17720936, 18383312, 18559331, 18561205, 18566915, 18625694, 18781619, 18822302, 18951462, 19267393, 19459153, 19659756, 19669161, 19731080, 19760518, 20587412, 20591884, 21120944, 21239990, 21642682, 21681552, 22102614, 22371642, 22883484, 22949379, 22949387, 23047549, 23248292, 23329266, 23604856, 23990280, 24278394, 24344984, 24362816, 25117503 |
ClinVar |
|
MSH6
|
Causal
Pathogenic evidence from ClinVar
|
1548301, 10348829, 10508506, 14974087, 15483016, 18301448, 20028993, 20487569, 24362816 |
ClinVar |
|
PALB2
|
Causal
Pathogenic evidence from ClinVar
|
23715323, 25980754, 26681312, 27329137, 27978560, 28818916, 29478780 |
ClinVar |
| Hereditary Non-Polyposis Colon Cancer Type 2 |
C1333991 |
ATM
|
Causal
Pathogenic evidence from ClinVar
|
23154512, 24512911, 25368522, 27978560, 28093285, 28135145 |
ClinVar |
|
CHEK2
|
Causal
Pathogenic evidence from ClinVar
|
12690581, 15818573, 15829956, 16478982, 18676774, 18679694, 18996005, 19876921, 21807500, 24976383, 27900359, 28135145 |
ClinVar |
|
MLH1
|
Causal
Pathogenic evidence from ClinVar
|
7557107, 7757073, 7892206, 8145827, 8566964, 8571956, 8581513, 8797773, 8872463, 8880570, 8993976, 9048925, 9067757, 9218993, 9272156, 9298827, 9311737, 9326924, 9399661, 9490293, 9500552, 9559627, 9718327, 9833759, 9927033, 9927034, 10037723, 10323887, 10375096, 10386556, 10413423, 10480359, 10598809, 10627141, 10660333, 10671064, 10713887, 10777691, 10882759, 11139242, 11208710, 11427529, 11555625, 11726306, 11748856, 11754112, 11781295, 11793442, 11839723, 11870161, 12070261, 12095971, 12132870, 12183410, 12200596, 12362047, 12373605, 12386821, 12547705, 12655562, 12658575, 12891553, 14512394, 14635101, 14961575, 15064764, 15139004, 15300854, 15345113, 15365995, 15365996, 15563510, 15713769, 15765394, 15849733, 15864295, 15872200, 15926618, 16083711, 16288214, 16341550, 16451135, 16873062, 16995940, 17135187, 17199584, 17210669, 17301300, 17453009, 17510385, 17569143, 17594722, 18033691, 18337503, 18383312, 18561205, 18566915, 18931482, 19419416, 19459153, 19690142, 19698169, 20020535, 20034658, 20533529 |
ClinVar |
|
MLH3
|
Causal
Pathogenic evidence from ClinVar
|
16204034, 16322221, 17203173, 18521850, 19156873, 19483466 |
ClinVar |
|
MSH2
|
Causal
Pathogenic evidence from ClinVar
|
9774676, 15943554, 16451135, 17531815, 18559331, 18822302, 19659756, 21642682, 23604856, 24362816 |
ClinVar |
|
PALB2
|
Causal
Pathogenic evidence from ClinVar
|
23715323, 25980754, 26681312, 27329137, 27978560, 28818916, 29478780 |
ClinVar |
| COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7 (disorder) |
C1858380 |
MLH3
|
Causal
Pathogenic evidence from ClinVar
|
11586295 |
ClinVar |
| Lynch syndrome I (site-specific colonic cancer) |
C2931459 |
MSH2
|
Causal
Pathogenic evidence from ClinVar
|
19098912 |
ClinVar |
| COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 |
C1833477 |
MSH6
|
Causal
Pathogenic evidence from ClinVar
|
8063241, 9354786, 9929971, 10480359, 10508506, 10521294, 10537275, 11586295, 12658575, 12732731, 14520694, 14961575, 14974087, 15236168, 15365995, 16283884, 16418736, 16807412, 17453009, 18269114, 18301448, 18389388, 18566915, 18625694, 18809606, 19851887, 20028993, 20487569, 20587412, 21056691, 21120944, 21155762, 21642682, 21836479, 22006311, 22102614, 22495361, 22949379, 23047549, 23621914, 23733757, 24362816, 24440087, 24728189, 24763289, 25307252, 25318681, 25559809, 25980754, 26440929, 26552419, 26681312, 26720728, 27273229, 27443514, 27601186, 28944238 |
ClinVar |
