| 401905799 | CV2810048 | single nucleotide variant | NM_178040.4(ERC1):c.3214-1G>A | not provided [RCV003396107] | uncertain significance | 12 | 1490092 | 1490092 | Human | | name |
| 405279064 | CV3206826 | single nucleotide variant | NM_178040.4(ERC1):c.2158-4G>A | ERC1-related disorder [RCV003919389] | benign | 12 | 1189855 | 1189855 | Human | | name , trait , alternate_id |
| 405293130 | CV3221232 | single nucleotide variant | NM_178040.4(ERC1):c.1738-6A>C | ERC1-related disorder [RCV003966767] | likely benign | 12 | 1180534 | 1180534 | Human | | name , trait , alternate_id |
| 8653612 | CV130187 | single nucleotide variant | NM_178039.3(ERC1):c.1653+2762A>T | Lung cancer [RCV000110674] | uncertain significance | 12 | 1144549 | 1144549 | Human | | name |
| 405275824 | CV3199453 | single nucleotide variant | NM_178040.4(ERC1):c.3214-9201G>T | ERC1-related disorder [RCV003916857] | likely benign | 12 | 1480892 | 1480892 | Human | | name , trait , alternate_id |
| 405287833 | CV3217944 | single nucleotide variant | NM_178040.4(ERC1):c.3214-9246C>T | ERC1-related disorder [RCV003982067] | benign | 12 | 1480847 | 1480847 | Human | | name , trait , alternate_id |
| 151352801 | CV1326065 | single nucleotide variant | NM_178040.4(ERC1):c.297T>G (p.Pro99=) | ERC1-related disorder [RCV003968566]|not provided [RCV001815735] | likely benign | 12 | 1028200 | 1028200 | Human | | name , trait , alternate_id |
| 401771349 | CV2675560 | single nucleotide variant | NM_178040.4(ERC1):c.17G>A (p.Arg6His) | not specified [RCV004295174] | uncertain significance | 12 | 1027920 | 1027920 | Human | | name |
| 405266301 | CV3201881 | single nucleotide variant | NM_178040.4(ERC1):c.48G>C (p.Gln16His) | ERC1-related disorder [RCV003911371] | benign | 12 | 1027951 | 1027951 | Human | | name , trait , alternate_id |
| 405284062 | CV3213560 | single nucleotide variant | NM_178040.4(ERC1):c.300C>T (p.Tyr100=) | ERC1-related disorder [RCV003922134] | likely benign | 12 | 1028203 | 1028203 | Human | | name , trait , alternate_id |
| 405740550 | CV3259372 | single nucleotide variant | NM_178040.4(ERC1):c.64C>T (p.Pro22Ser) | not specified [RCV004380510] | uncertain significance | 12 | 1027967 | 1027967 | Human | | name |
| 405740557 | CV3259373 | single nucleotide variant | NM_178040.4(ERC1):c.85C>T (p.Arg29Cys) | not specified [RCV004380511] | uncertain significance | 12 | 1027988 | 1027988 | Human | | name |
| 597804180 | CV3671456 | single nucleotide variant | NM_178040.4(ERC1):c.58C>T (p.Arg20Cys) | not specified [RCV004907564] | uncertain significance | 12 | 1027961 | 1027961 | Human | | name |
| 597804189 | CV3671464 | single nucleotide variant | NM_178040.4(ERC1):c.38C>T (p.Pro13Leu) | not specified [RCV004907568] | uncertain significance | 12 | 1027941 | 1027941 | Human | | name |
| 155991489 | CV2256453 | single nucleotide variant | NM_178040.4(ERC1):c.125C>T (p.Ser42Leu) | not specified [RCV004118668] | uncertain significance | 12 | 1028028 | 1028028 | Human | | name |
| 405275306 | CV3196248 | single nucleotide variant | NM_178040.4(ERC1):c.2820C>T (p.Ala940=) | ERC1-related disorder [RCV003974119] | benign | 12 | 1371872 | 1371872 | Human | | name , trait , alternate_id |
| 405275581 | CV3199385 | single nucleotide variant | NM_178040.4(ERC1):c.148A>G (p.Ser50Gly) | ERC1-related disorder [RCV003916797] | benign | 12 | 1028051 | 1028051 | Human | | name , trait , alternate_id |
| 405266804 | CV3211976 | single nucleotide variant | NM_178040.4(ERC1):c.1026C>T (p.His342=) | ERC1-related disorder [RCV003947239] | likely benign | 12 | 1083520 | 1083520 | Human | | name , trait , alternate_id |
| 405266889 | CV3218443 | single nucleotide variant | NM_178040.4(ERC1):c.1527C>T (p.Ser509=) | ERC1-related disorder [RCV003947262] | benign | 12 | 1115991 | 1115991 | Human | | name , trait , alternate_id |
| 405740529 | CV3259369 | single nucleotide variant | NM_178040.4(ERC1):c.260G>T (p.Ser87Ile) | not specified [RCV004380507] | uncertain significance | 12 | 1028163 | 1028163 | Human | | name |
| 597804182 | CV3671457 | single nucleotide variant | NM_178040.4(ERC1):c.197A>C (p.Tyr66Ser) | not specified [RCV004907565] | uncertain significance | 12 | 1028100 | 1028100 | Human | | name |
| 598170059 | CV3961665 | single nucleotide variant | NM_178040.4(ERC1):c.284G>A (p.Gly95Glu) | not specified [RCV005330621] | uncertain significance | 12 | 1028187 | 1028187 | Human | | name |
| 598170062 | CV3961666 | single nucleotide variant | NM_178040.4(ERC1):c.158C>A (p.Thr53Asn) | not specified [RCV005330622] | uncertain significance | 12 | 1028061 | 1028061 | Human | | name |
| 15199434 | CV702124 | single nucleotide variant | NM_178040.4(ERC1):c.1179T>A (p.Ser393=) | ERC1-related disorder [RCV003915928]|not provided [RCV000957037] | benign | 12 | 1110209 | 1110209 | Human | | name , trait , alternate_id |
| 156316934 | CV2250978 | single nucleotide variant | NM_178040.4(ERC1):c.323G>A (p.Gly108Asp) | not specified [RCV004123548] | uncertain significance | 12 | 1028226 | 1028226 | Human | | name |
| 156335795 | CV2333578 | single nucleotide variant | NM_178040.4(ERC1):c.547A>G (p.Met183Val) | not specified [RCV004190261] | uncertain significance | 12 | 1028450 | 1028450 | Human | | name |
| 156103933 | CV2352415 | single nucleotide variant | NM_178040.4(ERC1):c.364A>G (p.Thr122Ala) | not specified [RCV004200881] | uncertain significance | 12 | 1028267 | 1028267 | Human | | name |
| 329394906 | CV2457720 | single nucleotide variant | NM_178040.4(ERC1):c.520G>A (p.Val174Ile) | not specified [RCV004269562] | uncertain significance | 12 | 1028423 | 1028423 | Human | | name |
| 401750096 | CV2704980 | single nucleotide variant | NM_178040.4(ERC1):c.809T>A (p.Leu270His) | not specified [RCV004309587] | uncertain significance | 12 | 1083303 | 1083303 | Human | | name |
| 405261365 | CV3221502 | single nucleotide variant | NM_178040.4(ERC1):c.308G>C (p.Arg103Pro) | ERC1-related disorder [RCV003966976] | likely benign | 12 | 1028211 | 1028211 | Human | | name , trait , alternate_id |
| 407479653 | CV3441954 | single nucleotide variant | NM_178040.4(ERC1):c.953G>A (p.Ser318Asn) | not specified [RCV004617830] | uncertain significance | 12 | 1083447 | 1083447 | Human | | name |
| 407479674 | CV3441959 | single nucleotide variant | NM_178040.4(ERC1):c.308G>A (p.Arg103Gln) | not specified [RCV004617835] | uncertain significance | 12 | 1028211 | 1028211 | Human | | name |
| 407479678 | CV3441960 | single nucleotide variant | NM_178040.4(ERC1):c.595G>A (p.Ala199Thr) | not specified [RCV004617836] | uncertain significance | 12 | 1028498 | 1028498 | Human | | name |
| 597804176 | CV3671453 | single nucleotide variant | NM_178040.4(ERC1):c.659A>C (p.Glu220Ala) | not specified [RCV004907562] | uncertain significance | 12 | 1028562 | 1028562 | Human | | name |
| 598170047 | CV3961661 | single nucleotide variant | NM_178040.4(ERC1):c.652G>T (p.Val218Leu) | not specified [RCV005330617] | uncertain significance | 12 | 1028555 | 1028555 | Human | | name |
| 598170065 | CV3961667 | single nucleotide variant | NM_178040.4(ERC1):c.820C>T (p.His274Tyr) | not specified [RCV005330623] | uncertain significance | 12 | 1083314 | 1083314 | Human | | name |
| 598170069 | CV3961668 | single nucleotide variant | NM_178040.4(ERC1):c.362A>G (p.Asp121Gly) | not specified [RCV005330624] | uncertain significance | 12 | 1028265 | 1028265 | Human | | name |
| 598170075 | CV3961670 | single nucleotide variant | NM_178040.4(ERC1):c.863T>G (p.Leu288Trp) | not specified [RCV005330626] | uncertain significance | 12 | 1083357 | 1083357 | Human | | name |
| 155916378 | CV2197388 | single nucleotide variant | NM_178040.4(ERC1):c.2278C>G (p.Arg760Gly) | not specified [RCV004081127] | uncertain significance | 12 | 1189979 | 1189979 | Human | | name |
| 156320905 | CV2197440 | single nucleotide variant | NM_178040.4(ERC1):c.1244G>A (p.Ser415Asn) | not specified [RCV004081176] | uncertain significance | 12 | 1110274 | 1110274 | Human | | name |
| 156399639 | CV2202122 | single nucleotide variant | NM_178040.4(ERC1):c.1880G>A (p.Arg627Gln) | not specified [RCV004078076] | uncertain significance | 12 | 1181929 | 1181929 | Human | | name |
| 156069599 | CV2232232 | single nucleotide variant | NM_178040.4(ERC1):c.1295A>G (p.His432Arg) | not specified [RCV004105020] | uncertain significance | 12 | 1110325 | 1110325 | Human | | name |
| 155977986 | CV2246968 | single nucleotide variant | NM_178040.4(ERC1):c.1175C>G (p.Ser392Cys) | not specified [RCV004112757] | uncertain significance | 12 | 1110205 | 1110205 | Human | | name |
| 155994938 | CV2250291 | single nucleotide variant | NM_178040.4(ERC1):c.1959T>A (p.Asp653Glu) | not specified [RCV004127190] | uncertain significance | 12 | 1182008 | 1182008 | Human | | name |
| 156339586 | CV2271439 | single nucleotide variant | NM_178040.4(ERC1):c.1784G>A (p.Ser595Asn) | not specified [RCV004136543] | uncertain significance | 12 | 1180586 | 1180586 | Human | | name |
| 155965971 | CV2284144 | single nucleotide variant | NM_178040.4(ERC1):c.2042A>G (p.His681Arg) | not specified [RCV004144736] | uncertain significance | 12 | 1183306 | 1183306 | Human | | name |
| 156286169 | CV2292057 | single nucleotide variant | NM_178040.4(ERC1):c.2122G>C (p.Glu708Gln) | ERC1-related disorder [RCV003953999]|not specified [RCV004160332] | likely benign|uncertain significance | 12 | 1183386 | 1183386 | Human | | name , trait , alternate_id |
| 156250984 | CV2311262 | single nucleotide variant | NM_178040.4(ERC1):c.2822A>G (p.Asn941Ser) | not specified [RCV004166345] | uncertain significance | 12 | 1371874 | 1371874 | Human | | name |
| 156303746 | CV2341236 | single nucleotide variant | NM_178040.4(ERC1):c.2803A>G (p.Ile935Val) | not specified [RCV004186649] | uncertain significance | 12 | 1371855 | 1371855 | Human | | name |
| 329353884 | CV2439911 | single nucleotide variant | NM_178040.4(ERC1):c.1102T>G (p.Phe368Val) | not specified [RCV004257946] | uncertain significance | 12 | 1104765 | 1104765 | Human | | name |
| 329363593 | CV2442329 | single nucleotide variant | NM_178040.4(ERC1):c.2365C>G (p.Gln789Glu) | not specified [RCV004264802] | uncertain significance | 12 | 1236782 | 1236782 | Human | | name |
| 329392880 | CV2449355 | single nucleotide variant | NM_178040.4(ERC1):c.2417A>G (p.Lys806Arg) | not specified [RCV004266519] | uncertain significance | 12 | 1236834 | 1236834 | Human | | name |
| 329401877 | CV2457967 | single nucleotide variant | NM_178040.4(ERC1):c.1767C>A (p.Asp589Glu) | not specified [RCV004271545] | uncertain significance | 12 | 1180569 | 1180569 | Human | | name |
| 329397672 | CV2463900 | single nucleotide variant | NM_178040.4(ERC1):c.2864A>T (p.Gln955Leu) | not specified [RCV004279970] | uncertain significance | 12 | 1371916 | 1371916 | Human | | name |
| 401750548 | CV2689449 | single nucleotide variant | NM_178040.4(ERC1):c.1957G>A (p.Asp653Asn) | not specified [RCV004306251] | uncertain significance | 12 | 1182006 | 1182006 | Human | | name |
| 401763592 | CV2720379 | single nucleotide variant | NM_178040.4(ERC1):c.1027G>A (p.Val343Ile) | not specified [RCV004325689] | uncertain significance | 12 | 1083521 | 1083521 | Human | | name |
| 401765822 | CV2724497 | single nucleotide variant | NM_178040.4(ERC1):c.1542G>T (p.Glu514Asp) | not specified [RCV004331336] | uncertain significance | 12 | 1116006 | 1116006 | Human | | name |
| 401880856 | CV2789404 | single nucleotide variant | NM_178040.4(ERC1):c.1997G>A (p.Gly666Asp) | not specified [RCV004360046] | uncertain significance | 12 | 1182046 | 1182046 | Human | | name |
| 405289968 | CV3205909 | single nucleotide variant | NM_178040.4(ERC1):c.1885A>G (p.Ile629Val) | ERC1-related disorder [RCV003962111] | benign | 12 | 1181934 | 1181934 | Human | | name , trait , alternate_id |
| 405270482 | CV3211469 | single nucleotide variant | NM_178040.4(ERC1):c.2207G>A (p.Arg736Gln) | ERC1-related disorder [RCV003949353] | likely benign | 12 | 1189908 | 1189908 | Human | | name , trait , alternate_id |
| 405294322 | CV3214842 | single nucleotide variant | NM_178040.4(ERC1):c.1372A>G (p.Lys458Glu) | ERC1-related disorder [RCV003934253] | benign | 12 | 1112269 | 1112269 | Human | | name , trait , alternate_id |
| 405740483 | CV3259362 | single nucleotide variant | NM_178040.4(ERC1):c.1097G>A (p.Arg366Gln) | not specified [RCV004380500] | uncertain significance | 12 | 1104760 | 1104760 | Human | | name |
| 405740490 | CV3259363 | single nucleotide variant | NM_178040.4(ERC1):c.1712G>A (p.Arg571Gln) | not specified [RCV004380501] | uncertain significance | 12 | 1141762 | 1141762 | Human | | name |
| 405740497 | CV3259364 | single nucleotide variant | NM_178040.4(ERC1):c.2158G>A (p.Ala720Thr) | not specified [RCV004380502] | uncertain significance | 12 | 1189859 | 1189859 | Human | | name |
| 405740501 | CV3259365 | single nucleotide variant | NM_178040.4(ERC1):c.2302G>A (p.Val768Met) | not specified [RCV004380503] | uncertain significance | 12 | 1190003 | 1190003 | Human | | name |
| 405740507 | CV3259366 | single nucleotide variant | NM_178040.4(ERC1):c.2441C>T (p.Ala814Val) | not specified [RCV004380504] | uncertain significance | 12 | 1236858 | 1236858 | Human | | name |
| 405740513 | CV3259367 | single nucleotide variant | NM_178040.4(ERC1):c.2447G>A (p.Arg816Gln) | not specified [RCV004380505] | uncertain significance | 12 | 1236864 | 1236864 | Human | | name |
| 405740922 | CV3259368 | single nucleotide variant | NM_178040.4(ERC1):c.2485C>A (p.Gln829Lys) | not specified [RCV004380506] | uncertain significance | 12 | 1236902 | 1236902 | Human | | name |
| 405740536 | CV3259370 | single nucleotide variant | NM_178040.4(ERC1):c.2675A>C (p.Lys892Thr) | not specified [RCV004380508] | uncertain significance | 12 | 1289907 | 1289907 | Human | | name |
| 405740545 | CV3259371 | single nucleotide variant | NM_178040.4(ERC1):c.2914C>T (p.Leu972Phe) | not specified [RCV004380509] | uncertain significance | 12 | 1371966 | 1371966 | Human | | name |
| 407479649 | CV3441953 | single nucleotide variant | NM_178040.4(ERC1):c.2459A>G (p.Asn820Ser) | not specified [RCV004617829] | uncertain significance | 12 | 1236876 | 1236876 | Human | | name |
| 407479660 | CV3441956 | single nucleotide variant | NM_178040.4(ERC1):c.2603C>T (p.Thr868Ile) | not specified [RCV004617832] | uncertain significance | 12 | 1263149 | 1263149 | Human | | name |
| 407479664 | CV3441957 | single nucleotide variant | NM_178040.4(ERC1):c.2044G>T (p.Ala682Ser) | not specified [RCV004617833] | uncertain significance | 12 | 1183308 | 1183308 | Human | | name |
| 407479688 | CV3441962 | single nucleotide variant | NM_178040.4(ERC1):c.2731A>C (p.Asn911His) | not specified [RCV004617838] | uncertain significance | 12 | 1289963 | 1289963 | Human | | name |
| 407479697 | CV3441964 | single nucleotide variant | NM_178040.4(ERC1):c.1861G>A (p.Ala621Thr) | not specified [RCV004617840] | uncertain significance | 12 | 1180663 | 1180663 | Human | | name |
| 407479701 | CV3441965 | single nucleotide variant | NM_178040.4(ERC1):c.2140G>A (p.Glu714Lys) | not specified [RCV004617841] | uncertain significance | 12 | 1183404 | 1183404 | Human | | name |
| 597804174 | CV3671451 | single nucleotide variant | NM_178040.4(ERC1):c.1879C>T (p.Arg627Trp) | not specified [RCV004907561] | uncertain significance | 12 | 1181928 | 1181928 | Human | | name |
| 597748262 | CV3671454 | single nucleotide variant | NM_178040.4(ERC1):c.1892G>A (p.Arg631His) | not specified [RCV004923064] | uncertain significance | 12 | 1181941 | 1181941 | Human | | name |
| 597804178 | CV3671455 | single nucleotide variant | NM_178040.4(ERC1):c.2141A>C (p.Glu714Ala) | not specified [RCV004907563] | uncertain significance | 12 | 1183405 | 1183405 | Human | | name |
| 597804184 | CV3671458 | single nucleotide variant | NM_178040.4(ERC1):c.1180A>C (p.Met394Leu) | not specified [RCV004907566] | uncertain significance | 12 | 1110210 | 1110210 | Human | | name |
| 597748267 | CV3671459 | single nucleotide variant | NM_178040.4(ERC1):c.2984C>A (p.Ser995Tyr) | not specified [RCV004923065] | uncertain significance | 12 | 1408207 | 1408207 | Human | | name |
| 597748272 | CV3671460 | single nucleotide variant | NM_178040.4(ERC1):c.2974T>C (p.Phe992Leu) | not specified [RCV004923066] | uncertain significance | 12 | 1408197 | 1408197 | Human | | name |
| 597748280 | CV3671462 | single nucleotide variant | NM_178040.4(ERC1):c.1907G>A (p.Arg636Lys) | not specified [RCV004923068] | uncertain significance | 12 | 1181956 | 1181956 | Human | | name |
| 597804191 | CV3671465 | single nucleotide variant | NM_178040.4(ERC1):c.1999G>A (p.Asp667Asn) | not specified [RCV004907569] | uncertain significance | 12 | 1182048 | 1182048 | Human | | name |
| 597804193 | CV3671466 | single nucleotide variant | NM_178040.4(ERC1):c.1565C>G (p.Thr522Ser) | not specified [RCV004907570] | uncertain significance | 12 | 1116029 | 1116029 | Human | | name |
| 597804195 | CV3671467 | single nucleotide variant | NM_178040.4(ERC1):c.1007T>C (p.Leu336Pro) | not specified [RCV004907571] | uncertain significance | 12 | 1083501 | 1083501 | Human | | name |
| 598170043 | CV3961660 | single nucleotide variant | NM_178040.4(ERC1):c.1346C>T (p.Ser449Leu) | not specified [RCV005330616] | uncertain significance | 12 | 1112243 | 1112243 | Human | | name |
| 598170053 | CV3961663 | single nucleotide variant | NM_178040.4(ERC1):c.1147G>C (p.Val383Leu) | not specified [RCV005330619] | uncertain significance | 12 | 1104810 | 1104810 | Human | | name |
| 21072426 | CV792787 | duplication | NM_178040.4(ERC1):c.3037dup (p.Leu1013fs) | Macrocephaly, dysmorphic facies, and psychomotor retardation [RCV000991444] | likely pathogenic | 12 | 1444570 | 1444571 | Human | 1 | name |
| 156232814 | CV2273795 | single nucleotide variant | NM_178040.4(ERC1):c.3218A>C (p.Gln1073Pro) | not specified [RCV004132433] | uncertain significance | 12 | 1490097 | 1490097 | Human | | name |
| 156255270 | CV2280953 | single nucleotide variant | NM_178040.4(ERC1):c.3080T>G (p.Ile1027Ser) | not specified [RCV004145191] | uncertain significance | 12 | 1444617 | 1444617 | Human | | name |
| 401744048 | CV2684839 | single nucleotide variant | NM_178040.4(ERC1):c.3163G>A (p.Asp1055Asn) | not specified [RCV004295959] | uncertain significance | 12 | 1444700 | 1444700 | Human | | name |
| 405278230 | CV3221745 | single nucleotide variant | NM_178040.4(ERC1):c.3094A>G (p.Thr1032Ala) | ERC1-related disorder [RCV003976331] | benign | 12 | 1444631 | 1444631 | Human | | name , trait , alternate_id |
| 407479656 | CV3441955 | single nucleotide variant | NM_178040.4(ERC1):c.3127C>T (p.Arg1043Cys) | not specified [RCV004617831] | uncertain significance | 12 | 1444664 | 1444664 | Human | | name |
| 407479669 | CV3441958 | single nucleotide variant | NM_178040.4(ERC1):c.3035C>G (p.Pro1012Arg) | not specified [RCV004617834] | uncertain significance | 12 | 1444572 | 1444572 | Human | | name |
| 407479683 | CV3441961 | single nucleotide variant | NM_178040.4(ERC1):c.3206G>C (p.Arg1069Pro) | not specified [RCV004617837] | uncertain significance | 12 | 1444743 | 1444743 | Human | | name |
| 597748275 | CV3671461 | single nucleotide variant | NM_178040.4(ERC1):c.3006C>G (p.His1002Gln) | not specified [RCV004923067] | uncertain significance | 12 | 1408229 | 1408229 | Human | | name |
| 598170050 | CV3961662 | single nucleotide variant | NM_178040.4(ERC1):c.3108C>G (p.Asp1036Glu) | not specified [RCV005330618] | uncertain significance | 12 | 1444645 | 1444645 | Human | | name |
| 598170056 | CV3961664 | single nucleotide variant | NM_178040.4(ERC1):c.3205C>T (p.Arg1069Trp) | not specified [RCV005330620] | uncertain significance | 12 | 1444742 | 1444742 | Human | | name |
| 617150944 | CV4021961 | single nucleotide variant | NM_178040.4(ERC1):c.3142C>G (p.Pro1048Ala) | not provided [RCV005426922] | uncertain significance | 12 | 1444679 | 1444679 | Human | | name |