| 150501845 | CV1224306 | single nucleotide variant | NM_004557.4(NOTCH4):c.74-8A>T | not provided [RCV001620947] | benign | 6 | 32223094 | 32223094 | Human | | name |
| 150497680 | CV1271382 | single nucleotide variant | NM_004557.4(NOTCH4):c.-117C>T | not provided [RCV001689072] | benign | 6 | 32224045 | 32224045 | Human | 3 | name |
| 150515028 | CV1217355 | single nucleotide variant | NM_004557.4(NOTCH4):c.73+13G>A | not provided [RCV001608259] | benign | 6 | 32223843 | 32223843 | Human | | name |
| 150457904 | CV1237140 | single nucleotide variant | NM_004557.4(NOTCH4):c.73+89G>A | not provided [RCV001648819] | benign | 6 | 32223767 | 32223767 | Human | | name |
| 150469648 | CV1247856 | single nucleotide variant | NM_004557.4(NOTCH4):c.73+52A>T | not provided [RCV001670892] | benign | 6 | 32223804 | 32223804 | Human | 5 | name |
| 150469648 | CV1247856 | single nucleotide variant | NM_004557.4(NOTCH4):c.73+52A>T | not provided [RCV001670892] | benign | 6 | 32223804 | 32223805 | Human | 5 | name |
| 150441921 | CV1264351 | single nucleotide variant | NM_004557.4(NOTCH4):c.73+26G>A | not provided [RCV001679334] | benign | 6 | 32223830 | 32223830 | Human | | name |
| 150331821 | CV1169176 | single nucleotide variant | NM_004557.4(NOTCH4):c.73+176C>T | not provided [RCV001536640] | benign | 6 | 32223680 | 32223680 | Human | 3 | name |
| 150331821 | CV1169176 | single nucleotide variant | NM_004557.4(NOTCH4):c.73+176C>T | not provided [RCV001536640] | benign | 6 | 32223680 | 32223681 | Human | 3 | name |
| 150495817 | CV1225169 | single nucleotide variant | NM_004557.4(NOTCH4):c.74-178C>T | not provided [RCV001619647] | benign | 6 | 32223264 | 32223264 | Human | | name |
| 150469319 | CV1249075 | single nucleotide variant | NM_004557.4(NOTCH4):c.451+71A>G | not provided [RCV001670837] | benign | 6 | 32222440 | 32222440 | Human | | name |
| 150509836 | CV1284671 | single nucleotide variant | NM_004557.4(NOTCH4):c.156-37A>G | not provided [RCV001720779] | benign | 6 | 32222843 | 32222843 | Human | | name |
| 15149082 | CV730419 | single nucleotide variant | NM_004557.4(NOTCH4):c.1511-7T>A | not provided [RCV000879089] | benign | 6 | 32218115 | 32218115 | Human | | name |
| 15179420 | CV744265 | single nucleotide variant | NM_004557.4(NOTCH4):c.5299-3C>G | not provided [RCV000907106] | likely benign | 6 | 32196153 | 32196153 | Human | | name |
| 15148442 | CV759459 | single nucleotide variant | NM_004557.4(NOTCH4):c.2527-8C>T | not provided [RCV000923097] | likely benign | 6 | 32212635 | 32212635 | Human | | name |
| 15168631 | CV777618 | single nucleotide variant | NM_004557.4(NOTCH4):c.2865+9G>T | not provided [RCV000949297] | benign | 6 | 32210743 | 32210743 | Human | | name |
| 150330866 | CV1169175 | single nucleotide variant | NM_004557.4(NOTCH4):c.4757-73T>C | not provided [RCV001536181] | benign | 6 | 32197667 | 32197667 | Human | 2 | name |
| 150330866 | CV1169175 | single nucleotide variant | NM_004557.4(NOTCH4):c.4757-73T>C | not provided [RCV001536181] | benign | 6 | 32197667 | 32197668 | Human | 2 | name |
| 150507275 | CV1211135 | single nucleotide variant | NM_004557.4(NOTCH4):c.1861+17C>T | not provided [RCV001596253] | benign | 6 | 32216928 | 32216928 | Human | | name |
| 150497711 | CV1219451 | single nucleotide variant | NM_004557.4(NOTCH4):c.2680+10G>A | not provided [RCV001620120] | benign | 6 | 32212464 | 32212464 | Human | | name |
| 150502074 | CV1224384 | single nucleotide variant | NM_004557.4(NOTCH4):c.4617+42G>C | not provided [RCV001621025] | benign | 6 | 32198607 | 32198607 | Human | | name |
| 150513508 | CV1229032 | single nucleotide variant | NM_004557.4(NOTCH4):c.1160-38G>A | not provided [RCV001637874] | benign | 6 | 32220322 | 32220323 | Human | 6 | name |
| 150513508 | CV1229032 | single nucleotide variant | NM_004557.4(NOTCH4):c.1160-38G>A | not provided [RCV001637874] | benign | 6 | 32220322 | 32220322 | Human | 6 | name |
| 150497268 | CV1236994 | deletion | NM_004557.4(NOTCH4):c.4756+37del | not provided [RCV001656058] | benign | 6 | 32198384 | 32198384 | Human | | name |
| 150486914 | CV1237247 | single nucleotide variant | NM_004557.4(NOTCH4):c.2527-27T>A | not provided [RCV001654095] | benign | 6 | 32212654 | 32212654 | Human | | name |
| 150511197 | CV1242637 | single nucleotide variant | NM_004557.4(NOTCH4):c.1316-42T>C | not provided [RCV001660989] | benign | 6 | 32219828 | 32219828 | Human | | name |
| 150430631 | CV1243403 | single nucleotide variant | NM_004557.4(NOTCH4):c.1862-13C>T | not provided [RCV001663021] | benign | 6 | 32215398 | 32215398 | Human | | name |
| 150508819 | CV1244926 | single nucleotide variant | NM_004557.4(NOTCH4):c.5053-20C>G | not provided [RCV001659177] | benign | 6 | 32197092 | 32197092 | Human | 1 | name |
| 150508819 | CV1244926 | single nucleotide variant | NM_004557.4(NOTCH4):c.5053-20C>G | not provided [RCV001659177] | benign | 6 | 32197092 | 32197093 | Human | 1 | name |
| 150483592 | CV1248257 | deletion | NM_004557.4(NOTCH4):c.5200+36del | not provided [RCV001673472] | benign | 6 | 32196889 | 32196889 | Human | | name |
| 150460496 | CV1253116 | single nucleotide variant | NM_004557.4(NOTCH4):c.3232-57G>A | not provided [RCV001669445] | benign | 6 | 32202656 | 32202656 | Human | | name |
| 150499102 | CV1254304 | single nucleotide variant | NM_004557.4(NOTCH4):c.1316-74C>A | not provided [RCV001676478] | benign | 6 | 32219860 | 32219860 | Human | | name |
| 150467491 | CV1269239 | single nucleotide variant | NM_004557.4(NOTCH4):c.4316-87C>A | not provided [RCV001694647] | benign | 6 | 32199232 | 32199232 | Human | | name |
| 150471816 | CV1270151 | single nucleotide variant | NM_004557.4(NOTCH4):c.4618-44G>C | not provided [RCV001695439] | benign | 6 | 32198603 | 32198603 | Human | | name |
| 150454098 | CV1276942 | single nucleotide variant | NM_004557.4(NOTCH4):c.3232-31G>C | not provided [RCV001708733] | benign | 6 | 32202630 | 32202630 | Human | | name |
| 150465264 | CV1277210 | single nucleotide variant | NM_004557.4(NOTCH4):c.3119-24A>G | not provided [RCV001710504] | benign | 6 | 32203906 | 32203906 | Human | 4 | name |
| 150465561 | CV1277259 | single nucleotide variant | NM_004557.4(NOTCH4):c.5053-25G>T | not provided [RCV001710553] | benign | 6 | 32197097 | 32197097 | Human | | name |
| 150509839 | CV1284672 | deletion | NM_004557.4(NOTCH4):c.3232-89del | not provided [RCV001720780] | benign | 6 | 32202688 | 32202688 | Human | | name |
| 150509857 | CV1284678 | single nucleotide variant | NM_004557.4(NOTCH4):c.2681-60A>G | not provided [RCV001720786] | benign | 6 | 32210996 | 32210996 | Human | | name |
| 150510448 | CV1211690 | single nucleotide variant | NM_004557.4(NOTCH4):c.4757-212C>T | not provided [RCV001597584] | benign | 6 | 32197806 | 32197806 | Human | | name |
| 150502587 | CV1212270 | single nucleotide variant | NM_004557.4(NOTCH4):c.2681-189A>G | not provided [RCV001595143] | benign | 6 | 32211125 | 32211125 | Human | | name |
| 150480287 | CV1221940 | single nucleotide variant | NM_004557.4(NOTCH4):c.2022-229A>G | not provided [RCV001616736] | benign | 6 | 32214484 | 32214484 | Human | | name |
| 150460717 | CV1234679 | single nucleotide variant | NM_004557.4(NOTCH4):c.1510+167A>G | not provided [RCV001649261] | benign | 6 | 32219425 | 32219425 | Human | | name |
| 150458122 | CV1237171 | single nucleotide variant | NM_004557.4(NOTCH4):c.2021+128A>G | not provided [RCV001648850] | benign | 6 | 32215098 | 32215098 | Human | | name |
| 150438171 | CV1237985 | single nucleotide variant | NM_004557.4(NOTCH4):c.1861+148C>T | not provided [RCV001644483] | benign | 6 | 32216797 | 32216797 | Human | | name |
| 150478680 | CV1240538 | single nucleotide variant | NM_004557.4(NOTCH4):c.2680+105T>C | not provided [RCV001652413] | benign | 6 | 32212369 | 32212369 | Human | | name |
| 150470921 | CV1248107 | single nucleotide variant | NM_004557.4(NOTCH4):c.3231+179A>G | not provided [RCV001671143] | benign | 6 | 32203591 | 32203591 | Human | | name |
| 150450039 | CV1254060 | single nucleotide variant | NM_004557.4(NOTCH4):c.1316-158T>A | not provided [RCV001667697] | benign | 6 | 32219944 | 32219944 | Human | | name |
| 150450177 | CV1260924 | single nucleotide variant | NM_004557.4(NOTCH4):c.2321-153C>T | not provided [RCV001680593] | benign | 6 | 32213405 | 32213405 | Human | | name |
| 150474365 | CV1263350 | single nucleotide variant | NM_004557.4(NOTCH4):c.1624+167C>T | not provided [RCV001684872] | benign | 6 | 32217828 | 32217828 | Human | | name |
| 150460282 | CV1268473 | single nucleotide variant | NM_004557.4(NOTCH4):c.1316-159G>A | not provided [RCV001693470] | benign | 6 | 32219945 | 32219945 | Human | | name |
| 150446182 | CV1278276 | single nucleotide variant | NM_004557.4(NOTCH4):c.1625-203A>C | not provided [RCV001707419] | benign | 6 | 32217469 | 32217469 | Human | | name |
| 150509848 | CV1284675 | single nucleotide variant | NM_004557.4(NOTCH4):c.1511-165C>T | not provided [RCV001720783] | benign | 6 | 32218273 | 32218273 | Human | | name |
| 150477533 | CV1218639 | single nucleotide variant | NM_004557.4(NOTCH4):c.255C>T (p.Pro85=) | not provided [RCV001616266] | benign | 6 | 32222707 | 32222707 | Human | | name |
| 150457051 | CV1260090 | duplication | NM_004557.4(NOTCH4):c.1315+67_1315+68dup | not provided [RCV001681570] | benign | 6 | 32220059 | 32220060 | Human | | name |
| 150444527 | CV1266543 | single nucleotide variant | NM_004557.4(NOTCH4):c.852G>A (p.Gln284=) | not provided [RCV001690980] | benign | 6 | 32220826 | 32220826 | Human | | name |
| 150447263 | CV1270287 | single nucleotide variant | NM_004557.4(NOTCH4):c.522A>G (p.Thr174=) | not provided [RCV001691422] | benign | 6 | 32221255 | 32221255 | Human | | name |
| 150450796 | CV1272425 | deletion | NM_004557.4(NOTCH4):c.1511-39_1511-38del | not provided [RCV001691906] | benign | 6 | 32218146 | 32218147 | Human | | name |
| 150475877 | CV1279147 | single nucleotide variant | NM_004557.4(NOTCH4):c.813A>G (p.Pro271=) | not provided [RCV001713904] | benign | 6 | 32220865 | 32220865 | Human | | name |
| 150495673 | CV1283025 | single nucleotide variant | NM_004557.4(NOTCH4):c.333T>C (p.Gly111=) | not provided [RCV001717435] | benign | 6 | 32222629 | 32222629 | Human | | name |
| 597675132 | CV3559571 | single nucleotide variant | NM_004557.4(NOTCH4):c.552G>A (p.Pro184=) | not specified [RCV004830144] | likely benign | 6 | 32221225 | 32221225 | Human | | name |
| 15149086 | CV721967 | single nucleotide variant | NM_004557.4(NOTCH4):c.645G>A (p.Leu215=) | not provided [RCV000879090] | benign | 6 | 32221132 | 32221132 | Human | | name |
| 15151865 | CV721969 | single nucleotide variant | NM_004557.4(NOTCH4):c.570C>T (p.Ala190=) | not provided [RCV000879688] | benign | 6 | 32221207 | 32221207 | Human | | name |
| 15149097 | CV721970 | single nucleotide variant | NM_004557.4(NOTCH4):c.558C>T (p.Phe186=) | not provided [RCV000879092] | benign | 6 | 32221219 | 32221219 | Human | | name |
| 15117343 | CV765631 | single nucleotide variant | NM_004557.4(NOTCH4):c.801T>A (p.Gly267=) | not provided [RCV000939817] | likely benign | 6 | 32220877 | 32220877 | Human | | name |
| 8626175 | CV81319 | single nucleotide variant | NM_004557.3(NOTCH4):c.555C>T (p.Gly185=) | Malignant melanoma [RCV000061397] | not provided | 6 | 32221222 | 32221222 | Human | | name |
| 127330865 | CV1137487 | single nucleotide variant | NM_004557.4(NOTCH4):c.190T>A (p.Phe64Ile) | not provided [RCV001488420] | likely benign | 6 | 32222772 | 32222772 | Human | | name |
| 150514347 | CV1211961 | single nucleotide variant | NM_004557.4(NOTCH4):c.1044C>G (p.Gly348=) | not provided [RCV001599030] | benign | 6 | 32220520 | 32220520 | Human | 7 | name |
| 150514347 | CV1211961 | single nucleotide variant | NM_004557.4(NOTCH4):c.1044C>G (p.Gly348=) | not provided [RCV001599030] | benign | 6 | 32220520 | 32220521 | Human | 7 | name |
| 150440923 | CV1266993 | single nucleotide variant | NM_004557.4(NOTCH4):c.2967A>C (p.Gly989=) | not provided [RCV001690429] | benign | 6 | 32204288 | 32204288 | Human | | name |
| 155934186 | CV2229102 | single nucleotide variant | NM_004557.4(NOTCH4):c.256G>C (p.Ala86Pro) | not specified [RCV004098871] | uncertain significance | 6 | 32222706 | 32222706 | Human | | name |
| 156108802 | CV2313824 | single nucleotide variant | NM_004557.4(NOTCH4):c.244G>A (p.Ala82Thr) | not specified [RCV004164149] | uncertain significance | 6 | 32222718 | 32222718 | Human | | name |
| 155931166 | CV2362480 | single nucleotide variant | NM_004557.4(NOTCH4):c.211G>A (p.Ala71Thr) | not specified [RCV004213101] | uncertain significance | 6 | 32222751 | 32222751 | Human | | name |
| 329400275 | CV2437550 | single nucleotide variant | NM_004557.4(NOTCH4):c.182C>T (p.Thr61Met) | not specified [RCV004258833] | uncertain significance | 6 | 32222780 | 32222780 | Human | | name |
| 401915615 | CV2822921 | single nucleotide variant | NM_004557.4(NOTCH4):c.1488C>T (p.Thr496=) | not provided [RCV003428815] | likely benign | 6 | 32219614 | 32219614 | Human | | name |
| 405678844 | CV3351956 | single nucleotide variant | NM_004557.4(NOTCH4):c.131T>C (p.Leu44Pro) | not specified [RCV004488257] | uncertain significance | 6 | 32223029 | 32223029 | Human | | name |
| 407453899 | CV3416414 | single nucleotide variant | NM_004557.4(NOTCH4):c.2400G>A (p.Pro800=) | not provided [RCV004597672] | likely benign | 6 | 32213173 | 32213173 | Human | | name |
| 597674039 | CV3559553 | single nucleotide variant | NM_004557.4(NOTCH4):c.134C>T (p.Ser45Phe) | not specified [RCV004830126] | uncertain significance | 6 | 32223026 | 32223026 | Human | | name |
| 598207728 | CV4000859 | single nucleotide variant | NM_004557.4(NOTCH4):c.295C>T (p.Pro99Ser) | not specified [RCV005377169] | uncertain significance | 6 | 32222667 | 32222667 | Human | | name |
| 617153313 | CV4021198 | single nucleotide variant | NM_004557.4(NOTCH4):c.1044C>T (p.Gly348=) | not provided [RCV005428951] | likely benign | 6 | 32220520 | 32220520 | Human | | name |
| 15184411 | CV710429 | single nucleotide variant | NM_004557.4(NOTCH4):c.1578G>A (p.Ala526=) | not provided [RCV000975106] | benign | 6 | 32218041 | 32218041 | Human | | name |
| 15198439 | CV721964 | single nucleotide variant | NM_004557.4(NOTCH4):c.2388C>A (p.Gly796=) | not provided [RCV000890357] | likely benign | 6 | 32213185 | 32213185 | Human | | name |
| 15149072 | CV721965 | single nucleotide variant | NM_004557.4(NOTCH4):c.2052G>A (p.Thr684=) | not provided [RCV000879087] | benign | 6 | 32214225 | 32214225 | Human | | name |
| 15149077 | CV721966 | single nucleotide variant | NM_004557.4(NOTCH4):c.1866G>A (p.Gln622=) | not provided [RCV000879088] | benign | 6 | 32215381 | 32215381 | Human | | name |
| 150501571 | CV1224219 | single nucleotide variant | NM_004557.4(NOTCH4):c.731C>T (p.Ser244Leu) | not provided [RCV001620860] | benign | 6 | 32221046 | 32221046 | Human | 2 | name |
| 150502042 | CV1224373 | single nucleotide variant | NM_004557.4(NOTCH4):c.5952C>T (p.Asp1984=) | not provided [RCV001621014] | benign | 6 | 32195497 | 32195497 | Human | | name |
| 150450432 | CV1232680 | single nucleotide variant | NM_004557.4(NOTCH4):c.5685T>G (p.Ser1895=) | not provided [RCV001647755] | benign | 6 | 32195764 | 32195764 | Human | | name |
| 150509221 | CV1247253 | single nucleotide variant | NM_004557.4(NOTCH4):c.4152C>A (p.Val1384=) | not provided [RCV001659280] | benign | 6 | 32200994 | 32200994 | Human | 7 | name |
| 150440959 | CV1266999 | single nucleotide variant | NM_004557.4(NOTCH4):c.5562G>A (p.Gly1854=) | not provided [RCV001690435] | benign | 6 | 32195887 | 32195887 | Human | | name |
| 150454868 | CV1277082 | single nucleotide variant | NM_004557.4(NOTCH4):c.815A>G (p.Asp272Gly) | not provided [RCV001708874] | benign | 6 | 32220863 | 32220863 | Human | | name |
| 150491688 | CV1280544 | single nucleotide variant | NM_004557.4(NOTCH4):c.5427A>G (p.Gln1809=) | not provided [RCV001716682] | benign | 6 | 32196022 | 32196022 | Human | | name |
| 150509851 | CV1284676 | single nucleotide variant | NM_004557.4(NOTCH4):c.349A>C (p.Lys117Gln) | not provided [RCV001720784] | benign | 6 | 32222613 | 32222613 | Human | | name |
| 150439036 | CV1286986 | single nucleotide variant | NM_004557.4(NOTCH4):c.958A>G (p.Thr320Ala) | not provided [RCV001724901] | benign | 6 | 32220606 | 32220606 | Human | | name |
| 156113818 | CV2263886 | single nucleotide variant | NM_004557.4(NOTCH4):c.773C>G (p.Thr258Ser) | not specified [RCV004137937] | uncertain significance | 6 | 32221004 | 32221004 | Human | | name |
| 156053429 | CV2269497 | single nucleotide variant | NM_004557.4(NOTCH4):c.551C>T (p.Pro184Leu) | not specified [RCV004124609] | uncertain significance | 6 | 32221226 | 32221226 | Human | | name |
| 156048591 | CV2271736 | single nucleotide variant | NM_004557.4(NOTCH4):c.640A>G (p.Thr214Ala) | not specified [RCV004130582] | uncertain significance | 6 | 32221137 | 32221137 | Human | | name |
| 156196883 | CV2293507 | single nucleotide variant | NM_004557.4(NOTCH4):c.431C>T (p.Ser144Phe) | not specified [RCV004153043] | uncertain significance | 6 | 32222531 | 32222531 | Human | | name |
| 156257747 | CV2368987 | single nucleotide variant | NM_004557.4(NOTCH4):c.413C>T (p.Ser138Leu) | not specified [RCV004207929] | uncertain significance | 6 | 32222549 | 32222549 | Human | | name |
| 156083223 | CV2381864 | single nucleotide variant | NM_004557.4(NOTCH4):c.589G>A (p.Glu197Lys) | not specified [RCV004225809] | uncertain significance | 6 | 32221188 | 32221188 | Human | | name |
| 401729564 | CV2683723 | single nucleotide variant | NM_004557.4(NOTCH4):c.566A>G (p.His189Arg) | not specified [RCV004284465] | uncertain significance | 6 | 32221211 | 32221211 | Human | | name |
| 401860846 | CV2758659 | single nucleotide variant | NM_004557.4(NOTCH4):c.937G>A (p.Glu313Lys) | not specified [RCV004337728] | uncertain significance | 6 | 32220627 | 32220627 | Human | | name |
| 401867682 | CV2780776 | single nucleotide variant | NM_004557.4(NOTCH4):c.523T>C (p.Tyr175His) | not specified [RCV004352099] | uncertain significance | 6 | 32221254 | 32221254 | Human | | name |
| 401920558 | CV2822920 | single nucleotide variant | NM_004557.4(NOTCH4):c.3927C>T (p.Asp1309=) | not provided [RCV003431786] | likely benign | 6 | 32201329 | 32201329 | Human | | name |
| 405264167 | CV3185062 | single nucleotide variant | NM_004557.4(NOTCH4):c.4101G>A (p.Thr1367=) | not provided [RCV003885626] | benign | 6 | 32201155 | 32201155 | Human | | name |
| 405678937 | CV3351975 | single nucleotide variant | NM_004557.4(NOTCH4):c.719C>G (p.Pro240Arg) | not specified [RCV004488276] | uncertain significance | 6 | 32221058 | 32221058 | Human | | name |
| 405678943 | CV3351976 | single nucleotide variant | NM_004557.4(NOTCH4):c.769T>G (p.Ser257Ala) | not specified [RCV004488277] | uncertain significance | 6 | 32221008 | 32221008 | Human | | name |
| 405852876 | CV3393304 | single nucleotide variant | NM_004557.4(NOTCH4):c.299G>A (p.Ser100Asn) | not provided [RCV004546034] | benign | 6 | 32222663 | 32222663 | Human | | name |
| 407515981 | CV3469305 | single nucleotide variant | NM_004557.4(NOTCH4):c.622G>A (p.Gly208Ser) | not specified [RCV004650116] | uncertain significance | 6 | 32221155 | 32221155 | Human | | name |
| 407498341 | CV3469307 | single nucleotide variant | NM_004557.4(NOTCH4):c.967C>T (p.Pro323Ser) | not specified [RCV004643987] | uncertain significance | 6 | 32220597 | 32220597 | Human | | name |
| 597674059 | CV3559555 | single nucleotide variant | NM_004557.4(NOTCH4):c.314G>A (p.Cys105Tyr) | not specified [RCV004830128] | uncertain significance | 6 | 32222648 | 32222648 | Human | | name |
| 598240402 | CV4000848 | single nucleotide variant | NM_004557.4(NOTCH4):c.905G>A (p.Cys302Tyr) | not specified [RCV005383127] | uncertain significance | 6 | 32220773 | 32220773 | Human | | name |
| 598207690 | CV4000851 | single nucleotide variant | NM_004557.4(NOTCH4):c.482C>T (p.Ser161Leu) | not specified [RCV005377163] | uncertain significance | 6 | 32221295 | 32221295 | Human | | name |
| 15166010 | CV699537 | single nucleotide variant | NM_004557.4(NOTCH4):c.4828T>C (p.Leu1610=) | not provided [RCV000948731] | benign | 6 | 32197523 | 32197523 | Human | | name |
| 15149090 | CV721968 | single nucleotide variant | NM_004557.4(NOTCH4):c.611C>T (p.Pro204Leu) | not provided [RCV000879091] | benign | 6 | 32221166 | 32221166 | Human | | name |
| 15181558 | CV735601 | single nucleotide variant | NM_004557.4(NOTCH4):c.4407G>A (p.Gln1469=) | not provided [RCV000907607] | benign|likely benign | 6 | 32199054 | 32199054 | Human | | name |
| 15194676 | CV750021 | single nucleotide variant | NM_004557.4(NOTCH4):c.5103G>A (p.Gly1701=) | not provided [RCV000911192] | benign | 6 | 32197022 | 32197022 | Human | | name |
| 15166836 | CV750022 | single nucleotide variant | NM_004557.4(NOTCH4):c.3957G>A (p.Leu1319=) | not provided [RCV000926959] | likely benign | 6 | 32201299 | 32201299 | Human | | name |
| 150502474 | CV1212242 | single nucleotide variant | NM_004557.4(NOTCH4):c.1600G>A (p.Gly534Ser) | not provided [RCV001595115] | benign | 6 | 32218019 | 32218019 | Human | | name |
| 150483516 | CV1263003 | single nucleotide variant | NM_004557.4(NOTCH4):c.2824G>A (p.Gly942Arg) | not provided [RCV001686403] | benign | 6 | 32210793 | 32210793 | Human | | name |
| 10449776 | CV215339 | microsatellite | NM_004557.4(NOTCH4):c.18GCT[9] (p.Leu16del) | not provided [RCV001711609]|not specified [RCV000202881] | benign | 6 | 32223882 | 32223884 | Human | | name |
| 156075194 | CV2198076 | single nucleotide variant | NM_004557.4(NOTCH4):c.1867C>G (p.Leu623Val) | not specified [RCV004079678] | uncertain significance | 6 | 32215380 | 32215380 | Human | | name |
| 156380680 | CV2208347 | single nucleotide variant | NM_004557.4(NOTCH4):c.2689G>A (p.Val897Ile) | not specified [RCV004088780] | uncertain significance | 6 | 32210928 | 32210928 | Human | | name |
| 156389954 | CV2222881 | single nucleotide variant | NM_004557.4(NOTCH4):c.1451G>A (p.Cys484Tyr) | not specified [RCV004101703] | uncertain significance | 6 | 32219651 | 32219651 | Human | | name |
| 155925831 | CV2230512 | single nucleotide variant | NM_004557.4(NOTCH4):c.2727C>G (p.Asp909Glu) | not specified [RCV004097487] | uncertain significance | 6 | 32210890 | 32210890 | Human | | name |
| 11040254 | CV223623 | single nucleotide variant | NM_004557.4(NOTCH4):c.2443T>G (p.Cys815Gly) | Anophthalmia-microphthalmia syndrome [RCV000207397]|not provided [RCV000886825] | benign|likely benign | 6 | 32212907 | 32212907 | Human | 2 | name |
| 11040254 | CV223623 | single nucleotide variant | NM_004557.4(NOTCH4):c.2443T>G (p.Cys815Gly) | Anophthalmia-microphthalmia syndrome [RCV000207397]|not provided [RCV000886825] | benign|likely benign | 6 | 32212907 | 32212908 | Human | 2 | name |
| 156096558 | CV2253127 | single nucleotide variant | NM_004557.4(NOTCH4):c.1412G>A (p.Arg471His) | not specified [RCV004120907] | uncertain significance | 6 | 32219690 | 32219690 | Human | | name |
| 156218983 | CV2254006 | single nucleotide variant | NM_004557.4(NOTCH4):c.2363C>T (p.Thr788Ile) | not specified [RCV004129462] | uncertain significance | 6 | 32213210 | 32213210 | Human | | name |
| 155969177 | CV2262082 | single nucleotide variant | NM_004557.4(NOTCH4):c.2218A>T (p.Asn740Tyr) | not specified [RCV004126550] | uncertain significance | 6 | 32213790 | 32213790 | Human | | name |
| 156259633 | CV2322246 | single nucleotide variant | NM_004557.4(NOTCH4):c.1100G>A (p.Gly367Glu) | not specified [RCV004176017] | uncertain significance | 6 | 32220464 | 32220464 | Human | | name |
| 156354078 | CV2324204 | single nucleotide variant | NM_004557.4(NOTCH4):c.1022G>A (p.Cys341Tyr) | not specified [RCV004176945] | uncertain significance | 6 | 32220542 | 32220542 | Human | | name |
| 156288943 | CV2327457 | single nucleotide variant | NM_004557.4(NOTCH4):c.1538A>G (p.Glu513Gly) | not specified [RCV004174871] | uncertain significance | 6 | 32218081 | 32218081 | Human | | name |
| 156053172 | CV2333274 | single nucleotide variant | NM_004557.4(NOTCH4):c.1097C>T (p.Pro366Leu) | not specified [RCV004197023] | uncertain significance | 6 | 32220467 | 32220467 | Human | | name |
| 156168917 | CV2345489 | single nucleotide variant | NM_004557.4(NOTCH4):c.1024G>A (p.Val342Met) | not specified [RCV004198255] | uncertain significance | 6 | 32220540 | 32220540 | Human | | name |
| 156252465 | CV2369068 | single nucleotide variant | NM_004557.4(NOTCH4):c.2419C>T (p.Arg807Cys) | not specified [RCV004207995] | uncertain significance | 6 | 32213154 | 32213154 | Human | | name |
| 155998661 | CV2373322 | single nucleotide variant | NM_004557.4(NOTCH4):c.1267G>A (p.Gly423Ser) | not specified [RCV004220032] | uncertain significance | 6 | 32220177 | 32220177 | Human | | name |
| 329401589 | CV2457182 | single nucleotide variant | NM_004557.4(NOTCH4):c.1548G>T (p.Glu516Asp) | not specified [RCV004265266] | uncertain significance | 6 | 32218071 | 32218071 | Human | | name |
| 329357073 | CV2457528 | single nucleotide variant | NM_004557.4(NOTCH4):c.2836A>G (p.Met946Val) | not specified [RCV004267337] | likely benign | 6 | 32210781 | 32210781 | Human | | name |
| 329396530 | CV2462717 | single nucleotide variant | NM_004557.4(NOTCH4):c.2828C>T (p.Ala943Val) | not specified [RCV004278648] | uncertain significance | 6 | 32210789 | 32210789 | Human | | name |
| 329352849 | CV2470527 | single nucleotide variant | NM_004557.4(NOTCH4):c.1684A>G (p.Asn562Asp) | not specified [RCV004273540] | uncertain significance | 6 | 32217207 | 32217207 | Human | | name |
| 401767935 | CV2678107 | single nucleotide variant | NM_004557.4(NOTCH4):c.1247C>T (p.Thr416Ile) | not specified [RCV004296621] | uncertain significance | 6 | 32220197 | 32220197 | Human | | name |
| 401732292 | CV2698273 | single nucleotide variant | NM_004557.4(NOTCH4):c.1907C>T (p.Pro636Leu) | not specified [RCV004304824] | uncertain significance | 6 | 32215340 | 32215340 | Human | | name |
| 401738022 | CV2700904 | single nucleotide variant | NM_004557.4(NOTCH4):c.1954C>T (p.Pro652Ser) | not specified [RCV004307170] | uncertain significance | 6 | 32215293 | 32215293 | Human | | name |
| 401717847 | CV2703452 | single nucleotide variant | NM_004557.4(NOTCH4):c.1120G>A (p.Val374Met) | not specified [RCV004317643] | uncertain significance | 6 | 32220444 | 32220444 | Human | | name |
| 401717850 | CV2703453 | single nucleotide variant | NM_004557.4(NOTCH4):c.2677C>A (p.Gln893Lys) | not specified [RCV004317644] | uncertain significance | 6 | 32212477 | 32212477 | Human | | name |
| 401739092 | CV2708314 | single nucleotide variant | NM_004557.4(NOTCH4):c.2969T>A (p.Phe990Tyr) | not specified [RCV004311648] | uncertain significance | 6 | 32204286 | 32204286 | Human | | name |
| 401742972 | CV2715364 | single nucleotide variant | NM_004557.4(NOTCH4):c.2758C>G (p.Pro920Ala) | not specified [RCV004324693] | uncertain significance | 6 | 32210859 | 32210859 | Human | | name |
| 401766493 | CV2725579 | single nucleotide variant | NM_004557.4(NOTCH4):c.2342C>T (p.Thr781Ile) | not specified [RCV004321967] | uncertain significance | 6 | 32213231 | 32213231 | Human | | name |
| 401880523 | CV2780217 | single nucleotide variant | NM_004557.4(NOTCH4):c.1244C>T (p.Ser415Phe) | not specified [RCV004355859] | uncertain significance | 6 | 32220200 | 32220200 | Human | | name |
| 401882004 | CV2784927 | single nucleotide variant | NM_004557.4(NOTCH4):c.1387T>C (p.Cys463Arg) | not specified [RCV004354666] | uncertain significance | 6 | 32219715 | 32219715 | Human | | name |
| 405678833 | CV3351953 | single nucleotide variant | NM_004557.4(NOTCH4):c.1045G>T (p.Gly349Cys) | not specified [RCV004488254] | uncertain significance | 6 | 32220519 | 32220519 | Human | | name |
| 405678838 | CV3351954 | single nucleotide variant | NM_004557.4(NOTCH4):c.1061A>T (p.Glu354Val) | not specified [RCV004488255] | uncertain significance | 6 | 32220503 | 32220503 | Human | | name |
| 405678841 | CV3351955 | single nucleotide variant | NM_004557.4(NOTCH4):c.1208G>C (p.Gly403Ala) | not specified [RCV004488256] | uncertain significance | 6 | 32220236 | 32220236 | Human | | name |
| 405678850 | CV3351957 | single nucleotide variant | NM_004557.4(NOTCH4):c.1905G>C (p.Gln635His) | not specified [RCV004488258] | uncertain significance | 6 | 32215342 | 32215342 | Human | | name |
| 405678855 | CV3351958 | single nucleotide variant | NM_004557.4(NOTCH4):c.1911G>T (p.Lys637Asn) | not specified [RCV004488259] | uncertain significance | 6 | 32215336 | 32215336 | Human | | name |
| 405678860 | CV3351959 | single nucleotide variant | NM_004557.4(NOTCH4):c.2713G>A (p.Gly905Ser) | not specified [RCV004488260] | uncertain significance | 6 | 32210904 | 32210904 | Human | | name |
| 405678864 | CV3351960 | single nucleotide variant | NM_004557.4(NOTCH4):c.2791G>A (p.Val931Met) | not specified [RCV004488261] | uncertain significance | 6 | 32210826 | 32210826 | Human | | name |
| 405678870 | CV3351961 | single nucleotide variant | NM_004557.4(NOTCH4):c.2840C>G (p.Ala947Gly) | not specified [RCV004488262] | uncertain significance | 6 | 32210777 | 32210777 | Human | | name |
| 407498323 | CV3469298 | single nucleotide variant | NM_004557.4(NOTCH4):c.1657G>A (p.Asp553Asn) | not specified [RCV004643982] | likely benign | 6 | 32217234 | 32217234 | Human | | name |
| 407515984 | CV3469306 | single nucleotide variant | NM_004557.4(NOTCH4):c.2129C>T (p.Pro710Leu) | not specified [RCV004650117] | uncertain significance | 6 | 32214148 | 32214148 | Human | | name |
| 597674011 | CV3559550 | single nucleotide variant | NM_004557.4(NOTCH4):c.1274C>T (p.Ser425Leu) | not specified [RCV004830123] | uncertain significance | 6 | 32220170 | 32220170 | Human | | name |
| 597674022 | CV3559551 | single nucleotide variant | NM_004557.4(NOTCH4):c.2485C>T (p.Arg829Cys) | not specified [RCV004830124] | uncertain significance | 6 | 32212865 | 32212865 | Human | | name |
| 597675295 | CV3559557 | single nucleotide variant | NM_004557.4(NOTCH4):c.1976C>T (p.Ala659Val) | not specified [RCV004830130] | uncertain significance | 6 | 32215271 | 32215271 | Human | | name |
| 597675226 | CV3559563 | single nucleotide variant | NM_004557.4(NOTCH4):c.1594C>T (p.Leu532Phe) | not specified [RCV004830136] | uncertain significance | 6 | 32218025 | 32218025 | Human | | name |
| 597675181 | CV3559567 | single nucleotide variant | NM_004557.4(NOTCH4):c.2665G>A (p.Ala889Thr) | not specified [RCV004830140] | uncertain significance | 6 | 32212489 | 32212489 | Human | | name |
| 597675158 | CV3559569 | single nucleotide variant | NM_004557.4(NOTCH4):c.2240G>T (p.Ser747Ile) | not specified [RCV004830142] | uncertain significance | 6 | 32213768 | 32213768 | Human | | name |
| 598207684 | CV4000850 | single nucleotide variant | NM_004557.4(NOTCH4):c.2008G>A (p.Gly670Arg) | not specified [RCV005377162] | uncertain significance | 6 | 32215239 | 32215239 | Human | | name |
| 598207696 | CV4000852 | single nucleotide variant | NM_004557.4(NOTCH4):c.2147C>T (p.Thr716Ile) | not specified [RCV005377164] | uncertain significance | 6 | 32214130 | 32214130 | Human | | name |
| 598240408 | CV4000853 | single nucleotide variant | NM_004557.4(NOTCH4):c.1911G>C (p.Lys637Asn) | not specified [RCV005383128] | uncertain significance | 6 | 32215336 | 32215336 | Human | | name |
| 598207710 | CV4000856 | single nucleotide variant | NM_004557.4(NOTCH4):c.2840C>T (p.Ala947Val) | not specified [RCV005377166] | uncertain significance | 6 | 32210777 | 32210777 | Human | | name |
| 598207722 | CV4000858 | single nucleotide variant | NM_004557.4(NOTCH4):c.2775C>G (p.Ser925Arg) | not specified [RCV005377168] | uncertain significance | 6 | 32210842 | 32210842 | Human | | name |
| 598207733 | CV4000861 | single nucleotide variant | NM_004557.4(NOTCH4):c.1534G>A (p.Val512Met) | not specified [RCV005377170] | uncertain significance | 6 | 32218085 | 32218085 | Human | | name |
| 598207744 | CV4000864 | single nucleotide variant | NM_004557.4(NOTCH4):c.2549A>G (p.Gln850Arg) | not specified [RCV005377172] | uncertain significance | 6 | 32212605 | 32212605 | Human | | name |
| 598207749 | CV4000867 | single nucleotide variant | NM_004557.4(NOTCH4):c.1094C>G (p.Ala365Gly) | not specified [RCV005377173] | uncertain significance | 6 | 32220470 | 32220470 | Human | | name |
| 598207753 | CV4000869 | single nucleotide variant | NM_004557.4(NOTCH4):c.2530C>G (p.Leu844Val) | not specified [RCV005377174] | uncertain significance | 6 | 32212624 | 32212624 | Human | | name |
| 15174145 | CV679071 | single nucleotide variant | NM_004557.4(NOTCH4):c.1118G>A (p.Arg373Gln) | Aganglionic megacolon [RCV000984699] | uncertain significance | 6 | 32220446 | 32220446 | Human | 2 | name |
| 15181563 | CV735602 | single nucleotide variant | NM_004557.4(NOTCH4):c.1798G>C (p.Val600Leu) | not provided [RCV000907608] | likely benign | 6 | 32217008 | 32217008 | Human | | name |
| 127305968 | CV1116548 | single nucleotide variant | NM_004557.4(NOTCH4):c.3581C>T (p.Pro1194Leu) | not provided [RCV001462634]|not specified [RCV004038614] | likely benign|uncertain significance | 6 | 32202250 | 32202250 | Human | | name |
| 150439008 | CV1247661 | microsatellite | NM_004557.4(NOTCH4):c.18GCT[11] (p.Leu16dup) | not provided [RCV001666028] | benign | 6 | 32223881 | 32223882 | Human | | name |
| 156132114 | CV2192836 | single nucleotide variant | NM_004557.4(NOTCH4):c.4855C>A (p.Leu1619Met) | Cerebral arteriovenous malformation [RCV002640755] | uncertain significance | 6 | 32197496 | 32197496 | Human | 2 | name |
| 156254091 | CV2193199 | single nucleotide variant | NM_004557.4(NOTCH4):c.4748G>A (p.Arg1583His) | not specified [RCV004071189] | uncertain significance | 6 | 32198429 | 32198429 | Human | | name |
| 156252386 | CV2196724 | single nucleotide variant | NM_004557.4(NOTCH4):c.5920C>T (p.Pro1974Ser) | not specified [RCV004069408] | uncertain significance | 6 | 32195529 | 32195529 | Human | | name |
| 156267556 | CV2198829 | single nucleotide variant | NM_004557.4(NOTCH4):c.3320A>G (p.Lys1107Arg) | not specified [RCV004077869] | uncertain significance | 6 | 32202511 | 32202511 | Human | | name |
| 156290747 | CV2226223 | single nucleotide variant | NM_004557.4(NOTCH4):c.5738G>C (p.Gly1913Ala) | not specified [RCV004099481] | uncertain significance | 6 | 32195711 | 32195711 | Human | | name |
| 155915408 | CV2243766 | single nucleotide variant | NM_004557.4(NOTCH4):c.4766C>T (p.Thr1589Ile) | not specified [RCV004114459] | uncertain significance | 6 | 32197585 | 32197585 | Human | | name |
| 155962457 | CV2254401 | single nucleotide variant | NM_004557.4(NOTCH4):c.5062C>T (p.Arg1688Cys) | not specified [RCV004123786] | uncertain significance | 6 | 32197063 | 32197063 | Human | | name |
| 156150273 | CV2268870 | single nucleotide variant | NM_004557.4(NOTCH4):c.5750C>T (p.Ser1917Phe) | not specified [RCV004128288] | uncertain significance | 6 | 32195699 | 32195699 | Human | | name |
| 155967598 | CV2280460 | single nucleotide variant | NM_004557.4(NOTCH4):c.3140T>C (p.Ile1047Thr) | not specified [RCV004140629] | uncertain significance | 6 | 32203861 | 32203861 | Human | | name |
| 156283473 | CV2288902 | single nucleotide variant | NM_004557.4(NOTCH4):c.5464G>A (p.Ala1822Thr) | not specified [RCV004149875] | uncertain significance | 6 | 32195985 | 32195985 | Human | | name |
| 156088220 | CV2290667 | single nucleotide variant | NM_004557.4(NOTCH4):c.5693G>A (p.Arg1898Gln) | not specified [RCV004149198] | uncertain significance | 6 | 32195756 | 32195756 | Human | | name |
| 156088116 | CV2295482 | single nucleotide variant | NM_004557.4(NOTCH4):c.4427G>A (p.Arg1476Gln) | not specified [RCV004160596] | uncertain significance | 6 | 32199034 | 32199034 | Human | | name |
| 155942575 | CV2301238 | single nucleotide variant | NM_004557.4(NOTCH4):c.3505C>T (p.Arg1169Trp) | not specified [RCV004160141] | uncertain significance | 6 | 32202326 | 32202326 | Human | | name |
| 156014518 | CV2301486 | single nucleotide variant | NM_004557.4(NOTCH4):c.5059C>T (p.Leu1687Phe) | not specified [RCV004162408] | uncertain significance | 6 | 32197066 | 32197066 | Human | | name |
| 156292553 | CV2306237 | single nucleotide variant | NM_004557.4(NOTCH4):c.4198C>T (p.Arg1400Cys) | not specified [RCV004162970] | uncertain significance | 6 | 32200948 | 32200948 | Human | | name |
| 156100327 | CV2306612 | single nucleotide variant | NM_004557.4(NOTCH4):c.3034G>C (p.Asp1012His) | not specified [RCV004157212] | uncertain significance | 6 | 32204221 | 32204221 | Human | | name |
| 155919597 | CV2333225 | single nucleotide variant | NM_004557.4(NOTCH4):c.5143G>A (p.Asp1715Asn) | not specified [RCV004196558] | uncertain significance | 6 | 32196982 | 32196982 | Human | | name |
| 155987226 | CV2363785 | single nucleotide variant | NM_004557.4(NOTCH4):c.4774A>T (p.Met1592Leu) | not specified [RCV004218769] | uncertain significance | 6 | 32197577 | 32197577 | Human | | name |
| 155932142 | CV2364343 | single nucleotide variant | NM_004557.4(NOTCH4):c.4768C>A (p.Pro1590Thr) | not specified [RCV004223563] | uncertain significance | 6 | 32197583 | 32197583 | Human | | name |
| 156386915 | CV2364886 | single nucleotide variant | NM_004557.4(NOTCH4):c.3601G>A (p.Gly1201Arg) | not specified [RCV004221790] | uncertain significance | 6 | 32202230 | 32202230 | Human | | name |
| 156154477 | CV2369509 | single nucleotide variant | NM_004557.4(NOTCH4):c.5612G>A (p.Arg1871His) | not specified [RCV004210444] | uncertain significance | 6 | 32195837 | 32195837 | Human | | name |
| 156001216 | CV2378789 | single nucleotide variant | NM_004557.4(NOTCH4):c.5497C>A (p.Pro1833Thr) | not specified [RCV004231238] | uncertain significance | 6 | 32195952 | 32195952 | Human | | name |
| 156190278 | CV2391060 | single nucleotide variant | NM_004557.4(NOTCH4):c.4283C>T (p.Pro1428Leu) | not specified [RCV004235052] | uncertain significance | 6 | 32200863 | 32200863 | Human | | name |
| 329396445 | CV2462677 | single nucleotide variant | NM_004557.4(NOTCH4):c.3748G>A (p.Ala1250Thr) | not specified [RCV004278612] | likely benign | 6 | 32202083 | 32202083 | Human | | name |
| 401736327 | CV2682992 | single nucleotide variant | NM_004557.4(NOTCH4):c.3202C>T (p.Pro1068Ser) | not specified [RCV004283779] | uncertain significance | 6 | 32203799 | 32203799 | Human | | name |
| 11639746 | CV269862 | single nucleotide variant | NM_004557.4(NOTCH4):c.4927C>T (p.Arg1643Ter) | not provided [RCV000326235] | uncertain significance | 6 | 32197424 | 32197424 | Human | | name |
| 401769953 | CV2718965 | single nucleotide variant | NM_004557.4(NOTCH4):c.5696G>C (p.Ser1899Thr) | not specified [RCV004322556] | uncertain significance | 6 | 32195753 | 32195753 | Human | | name |
| 401893347 | CV2756615 | single nucleotide variant | NM_004557.4(NOTCH4):c.5917A>T (p.Thr1973Ser) | not specified [RCV004345137] | uncertain significance | 6 | 32195532 | 32195532 | Human | | name |
| 405678875 | CV3351962 | single nucleotide variant | NM_004557.4(NOTCH4):c.3161C>T (p.Pro1054Leu) | not specified [RCV004488263] | uncertain significance | 6 | 32203840 | 32203840 | Human | | name |
| 405678878 | CV3351963 | single nucleotide variant | NM_004557.4(NOTCH4):c.3200C>T (p.Ser1067Leu) | not specified [RCV004488264] | uncertain significance | 6 | 32203801 | 32203801 | Human | | name |
| 405678884 | CV3351964 | single nucleotide variant | NM_004557.4(NOTCH4):c.3392C>T (p.Pro1131Leu) | not specified [RCV004488265] | uncertain significance | 6 | 32202439 | 32202439 | Human | | name |
| 405678889 | CV3351965 | single nucleotide variant | NM_004557.4(NOTCH4):c.3793A>G (p.Asn1265Asp) | not specified [RCV004488266] | uncertain significance | 6 | 32201463 | 32201463 | Human | | name |
| 405678894 | CV3351966 | single nucleotide variant | NM_004557.4(NOTCH4):c.3796G>A (p.Gly1266Arg) | not specified [RCV004488267] | uncertain significance | 6 | 32201460 | 32201460 | Human | | name |
| 405678899 | CV3351967 | single nucleotide variant | NM_004557.4(NOTCH4):c.4024T>C (p.Tyr1342His) | not specified [RCV004488268] | uncertain significance | 6 | 32201232 | 32201232 | Human | | name |
| 405678904 | CV3351968 | single nucleotide variant | NM_004557.4(NOTCH4):c.4063C>T (p.Arg1355Trp) | not specified [RCV004488269] | uncertain significance | 6 | 32201193 | 32201193 | Human | | name |
| 405678909 | CV3351969 | single nucleotide variant | NM_004557.4(NOTCH4):c.4064G>A (p.Arg1355Gln) | not specified [RCV004488270] | uncertain significance | 6 | 32201192 | 32201192 | Human | | name |
| 405678914 | CV3351970 | single nucleotide variant | NM_004557.4(NOTCH4):c.4070C>T (p.Pro1357Leu) | not specified [RCV004488271] | uncertain significance | 6 | 32201186 | 32201186 | Human | | name |
| 405678918 | CV3351971 | single nucleotide variant | NM_004557.4(NOTCH4):c.4196C>T (p.Ser1399Phe) | not specified [RCV004488272] | uncertain significance | 6 | 32200950 | 32200950 | Human | | name |
| 405678924 | CV3351972 | single nucleotide variant | NM_004557.4(NOTCH4):c.4475G>A (p.Arg1492Gln) | not specified [RCV004488273] | uncertain significance | 6 | 32198986 | 32198986 | Human | | name |
| 405678927 | CV3351973 | single nucleotide variant | NM_004557.4(NOTCH4):c.5548G>T (p.Val1850Leu) | not specified [RCV004488274] | uncertain significance | 6 | 32195901 | 32195901 | Human | | name |
| 405678933 | CV3351974 | single nucleotide variant | NM_004557.4(NOTCH4):c.5818C>T (p.Arg1940Cys) | not specified [RCV004488275] | uncertain significance | 6 | 32195631 | 32195631 | Human | | name |
| 407515966 | CV3469294 | single nucleotide variant | NM_004557.4(NOTCH4):c.5651T>C (p.Val1884Ala) | not specified [RCV004650111] | uncertain significance | 6 | 32195798 | 32195798 | Human | | name |
| 407498319 | CV3469295 | single nucleotide variant | NM_004557.4(NOTCH4):c.5405C>A (p.Ala1802Glu) | not specified [RCV004643981] | uncertain significance | 6 | 32196044 | 32196044 | Human | | name |
| 407515968 | CV3469296 | single nucleotide variant | NM_004557.4(NOTCH4):c.3274G>A (p.Gly1092Ser) | not specified [RCV004650112] | uncertain significance | 6 | 32202557 | 32202557 | Human | | name |
| 407515971 | CV3469297 | single nucleotide variant | NM_004557.4(NOTCH4):c.3656G>T (p.Arg1219Leu) | not specified [RCV004650113] | uncertain significance | 6 | 32202175 | 32202175 | Human | | name |
| 407498327 | CV3469299 | single nucleotide variant | NM_004557.4(NOTCH4):c.3998G>C (p.Arg1333Pro) | not specified [RCV004643983] | uncertain significance | 6 | 32201258 | 32201258 | Human | | name |
| 407498330 | CV3469300 | single nucleotide variant | NM_004557.4(NOTCH4):c.5915T>C (p.Leu1972Pro) | not specified [RCV004643984] | uncertain significance | 6 | 32195534 | 32195534 | Human | | name |
| 407515974 | CV3469301 | single nucleotide variant | NM_004557.4(NOTCH4):c.4415G>A (p.Arg1472Gln) | not specified [RCV004650114] | uncertain significance | 6 | 32199046 | 32199046 | Human | | name |
| 407498334 | CV3469302 | single nucleotide variant | NM_004557.4(NOTCH4):c.4051C>G (p.Leu1351Val) | not specified [RCV004643985] | uncertain significance | 6 | 32201205 | 32201205 | Human | | name |
| 407515978 | CV3469304 | single nucleotide variant | NM_004557.4(NOTCH4):c.5269G>C (p.Gly1757Arg) | not specified [RCV004650115] | uncertain significance | 6 | 32196353 | 32196353 | Human | | name |
| 407498345 | CV3469308 | single nucleotide variant | NM_004557.4(NOTCH4):c.4345G>A (p.Val1449Met) | not specified [RCV004643988] | uncertain significance | 6 | 32199116 | 32199116 | Human | | name |
| 597674000 | CV3559549 | single nucleotide variant | NM_004557.4(NOTCH4):c.3338G>A (p.Arg1113His) | not specified [RCV004830122] | uncertain significance | 6 | 32202493 | 32202493 | Human | | name |
| 597674030 | CV3559552 | single nucleotide variant | NM_004557.4(NOTCH4):c.5509G>A (p.Ala1837Thr) | not specified [RCV004830125] | uncertain significance | 6 | 32195940 | 32195940 | Human | | name |
| 597674048 | CV3559554 | single nucleotide variant | NM_004557.4(NOTCH4):c.5843A>G (p.Asp1948Gly) | not specified [RCV004830127] | uncertain significance | 6 | 32195606 | 32195606 | Human | | name |
| 597674067 | CV3559556 | single nucleotide variant | NM_004557.4(NOTCH4):c.3116C>T (p.Thr1039Ile) | not specified [RCV004830129] | uncertain significance | 6 | 32204139 | 32204139 | Human | | name |
| 597675283 | CV3559558 | single nucleotide variant | NM_004557.4(NOTCH4):c.3064G>A (p.Ala1022Thr) | not specified [RCV004830131] | uncertain significance | 6 | 32204191 | 32204191 | Human | | name |
| 597675270 | CV3559559 | single nucleotide variant | NM_004557.4(NOTCH4):c.5671G>T (p.Gly1891Cys) | not specified [RCV004830132] | uncertain significance | 6 | 32195778 | 32195778 | Human | | name |
| 597675257 | CV3559560 | single nucleotide variant | NM_004557.4(NOTCH4):c.4123G>A (p.Asp1375Asn) | not specified [RCV004830133] | uncertain significance | 6 | 32201133 | 32201133 | Human | | name |
| 597675245 | CV3559561 | single nucleotide variant | NM_004557.4(NOTCH4):c.3758C>T (p.Pro1253Leu) | not specified [RCV004830134] | uncertain significance | 6 | 32201498 | 32201498 | Human | | name |
| 597675234 | CV3559562 | single nucleotide variant | NM_004557.4(NOTCH4):c.4079A>G (p.Gln1360Arg) | not specified [RCV004830135] | uncertain significance | 6 | 32201177 | 32201177 | Human | | name |
| 597675215 | CV3559564 | single nucleotide variant | NM_004557.4(NOTCH4):c.5510C>T (p.Ala1837Val) | not specified [RCV004830137] | uncertain significance | 6 | 32195939 | 32195939 | Human | | name |
| 597675207 | CV3559565 | single nucleotide variant | NM_004557.4(NOTCH4):c.5728A>T (p.Thr1910Ser) | not specified [RCV004830138] | uncertain significance | 6 | 32195721 | 32195721 | Human | | name |
| 597675193 | CV3559566 | single nucleotide variant | NM_004557.4(NOTCH4):c.3338G>T (p.Arg1113Leu) | not specified [RCV004830139] | uncertain significance | 6 | 32202493 | 32202493 | Human | | name |
| 597675170 | CV3559568 | single nucleotide variant | NM_004557.4(NOTCH4):c.4039G>A (p.Ala1347Thr) | not specified [RCV004830141] | uncertain significance | 6 | 32201217 | 32201217 | Human | | name |
| 597675146 | CV3559570 | single nucleotide variant | NM_004557.4(NOTCH4):c.4789T>C (p.Cys1597Arg) | not specified [RCV004830143] | uncertain significance | 6 | 32197562 | 32197562 | Human | | name |
| 597675121 | CV3559572 | single nucleotide variant | NM_004557.4(NOTCH4):c.3650A>G (p.His1217Arg) | not specified [RCV004830145] | uncertain significance | 6 | 32202181 | 32202181 | Human | | name |
| 598207677 | CV4000849 | single nucleotide variant | NM_004557.4(NOTCH4):c.5792G>A (p.Arg1931Gln) | not specified [RCV005377161] | uncertain significance | 6 | 32195657 | 32195657 | Human | | name |
| 598240415 | CV4000854 | single nucleotide variant | NM_004557.4(NOTCH4):c.3499G>A (p.Gly1167Arg) | not specified [RCV005383129] | uncertain significance | 6 | 32202332 | 32202332 | Human | | name |
| 598207704 | CV4000855 | single nucleotide variant | NM_004557.4(NOTCH4):c.4496G>A (p.Arg1499Gln) | not specified [RCV005377165] | uncertain significance | 6 | 32198965 | 32198965 | Human | | name |
| 598207716 | CV4000857 | single nucleotide variant | NM_004557.4(NOTCH4):c.4142T>C (p.Phe1381Ser) | not specified [RCV005377167] | uncertain significance | 6 | 32201004 | 32201004 | Human | | name |
| 598240421 | CV4000860 | single nucleotide variant | NM_004557.4(NOTCH4):c.5210C>T (p.Ala1737Val) | not specified [RCV005383130] | uncertain significance | 6 | 32196412 | 32196412 | Human | | name |
| 598240604 | CV4000862 | single nucleotide variant | NM_004557.4(NOTCH4):c.3528G>C (p.Lys1176Asn) | not specified [RCV005383131] | uncertain significance | 6 | 32202303 | 32202303 | Human | | name |
| 598207737 | CV4000863 | single nucleotide variant | NM_004557.4(NOTCH4):c.4516G>A (p.Glu1506Lys) | not specified [RCV005377171] | uncertain significance | 6 | 32198945 | 32198945 | Human | | name |
| 598240610 | CV4000865 | single nucleotide variant | NM_004557.4(NOTCH4):c.5588C>T (p.Thr1863Met) | not specified [RCV005383132] | uncertain significance | 6 | 32195861 | 32195861 | Human | | name |
| 598240616 | CV4000866 | single nucleotide variant | NM_004557.4(NOTCH4):c.5419G>A (p.Ala1807Thr) | not specified [RCV005383133] | uncertain significance | 6 | 32196030 | 32196030 | Human | | name |
| 598240622 | CV4000868 | single nucleotide variant | NM_004557.4(NOTCH4):c.5081T>C (p.Val1694Ala) | not specified [RCV005383134] | uncertain significance | 6 | 32197044 | 32197044 | Human | | name |
| 15145405 | CV710428 | single nucleotide variant | NM_004557.4(NOTCH4):c.3637G>C (p.Gly1213Arg) | not provided [RCV000966991] | benign | 6 | 32202194 | 32202194 | Human | | name |
| 15155332 | CV721963 | single nucleotide variant | NM_004557.4(NOTCH4):c.5083G>A (p.Asp1695Asn) | not provided [RCV000880396] | likely benign | 6 | 32197042 | 32197042 | Human | | name |
| 15128946 | CV750023 | single nucleotide variant | NM_004557.4(NOTCH4):c.3295G>A (p.Gly1099Arg) | not provided [RCV000919741] | benign | 6 | 32202536 | 32202536 | Human | | name |
| 10449667 | CV215340 | microsatellite | NM_004557.4(NOTCH4):c.18GCT[6] (p.Leu13_Leu16del) | not specified [RCV000202715] | benign | 6 | 32223882 | 32223893 | Human | | name |
| 401920560 | CV2822922 | microsatellite | NM_004557.4(NOTCH4):c.18GCT[5] (p.Leu12_Leu16del) | not provided [RCV003431787] | likely benign | 6 | 32223882 | 32223896 | Human | | name |
| 150494070 | CV1267278 | microsatellite | NM_004557.4(NOTCH4):c.18GCT[12] (p.Leu15_Leu16dup) | not provided [RCV001688306] | benign | 6 | 32223881 | 32223882 | Human | | name |