| 152086645 | CV1589819 | duplication | NM_016824.5(ADD3):c.487-5dup | not provided [RCV002193719] | benign | 10 | 110117328 | 110117329 | Human | | name |
| 155993193 | CV2095596 | single nucleotide variant | NM_016824.5(ADD3):c.718-3T>C | not provided [RCV002908260] | uncertain significance | 10 | 110119208 | 110119208 | Human | | name |
| 402492414 | CV3008309 | single nucleotide variant | NM_016824.5(ADD3):c.961-7A>T | not provided [RCV003687663] | likely benign | 10 | 110122103 | 110122103 | Human | | name |
| 127294036 | CV1156352 | single nucleotide variant | NM_016824.5(ADD3):c.717+16T>G | not provided [RCV001511589] | benign | 10 | 110118752 | 110118752 | Human | | name |
| 151852504 | CV1378909 | single nucleotide variant | NM_016824.5(ADD3):c.1828+4C>T | not provided [RCV001882931] | uncertain significance | 10 | 110132404 | 110132404 | Human | | name |
| 152100958 | CV1546890 | single nucleotide variant | NM_016824.5(ADD3):c.1828+8A>G | not provided [RCV002151805] | likely benign | 10 | 110132408 | 110132408 | Human | | name |
| 152081374 | CV1554657 | single nucleotide variant | NM_016824.5(ADD3):c.1829-5C>T | not provided [RCV002193061] | likely benign | 10 | 110133321 | 110133321 | Human | | name |
| 152046705 | CV1556298 | single nucleotide variant | NM_016824.5(ADD3):c.960+18C>G | not provided [RCV002207006] | likely benign | 10 | 110119582 | 110119582 | Human | | name |
| 152155888 | CV1585881 | single nucleotide variant | NM_016824.5(ADD3):c.196-17A>G | not provided [RCV002140162] | likely benign | 10 | 110112760 | 110112760 | Human | | name |
| 152146355 | CV1599983 | single nucleotide variant | NM_016824.5(ADD3):c.487-11T>G | not provided [RCV002138857] | likely benign | 10 | 110117331 | 110117331 | Human | | name |
| 156440237 | CV1946600 | single nucleotide variant | NM_016824.5(ADD3):c.1733-1G>A | not provided [RCV003110268]|not specified [RCV003388168] | uncertain significance | 10 | 110132304 | 110132304 | Human | | name |
| 156201123 | CV1978245 | single nucleotide variant | NM_016824.5(ADD3):c.961-13C>A | not provided [RCV002625730] | likely benign | 10 | 110122097 | 110122097 | Human | | name |
| 156111776 | CV2008673 | deletion | NM_016824.5(ADD3):c.335-11del | not provided [RCV002695698] | benign | 10 | 110116243 | 110116243 | Human | | name |
| 156333732 | CV2112919 | single nucleotide variant | NM_016824.5(ADD3):c.1829-4G>A | ADD3-related disorder [RCV003916638]|not provided [RCV002938509] | likely benign | 10 | 110133322 | 110133322 | Human | 1 | name , trait , alternate_id |
| 155910170 | CV2156932 | single nucleotide variant | NM_016824.5(ADD3):c.195+18G>A | not provided [RCV003012194] | likely benign | 10 | 110100866 | 110100866 | Human | | name |
| 405110766 | CV2942090 | single nucleotide variant | NM_016824.5(ADD3):c.487-14G>A | not provided [RCV003666277] | likely benign | 10 | 110117328 | 110117328 | Human | | name |
| 405191732 | CV3118060 | single nucleotide variant | NM_016824.5(ADD3):c.1829-6T>C | not provided [RCV003820970] | likely benign | 10 | 110133320 | 110133320 | Human | | name |
| 597913517 | CV3817431 | single nucleotide variant | NM_016824.5(ADD3):c.862-14G>T | not provided [RCV005154633] | likely benign | 10 | 110119452 | 110119452 | Human | | name |
| 15147845 | CV759865 | single nucleotide variant | NM_016824.5(ADD3):c.1401+8A>G | not provided [RCV000922987] | likely benign | 10 | 110124282 | 110124282 | Human | | name |
| 15197690 | CV759870 | single nucleotide variant | NM_016824.5(ADD3):c.1828+6C>T | not provided [RCV000912044] | likely benign | 10 | 110132406 | 110132406 | Human | | name |
| 152165016 | CV1543672 | deletion | NM_016824.5(ADD3):c.1733-12del | not provided [RCV002123926] | likely benign | 10 | 110132293 | 110132293 | Human | | name |
| 152030583 | CV1632224 | single nucleotide variant | NM_016824.5(ADD3):c.1829-17A>C | not provided [RCV002124363] | likely benign | 10 | 110133309 | 110133309 | Human | | name |
| 152075842 | CV1653061 | single nucleotide variant | NM_016824.5(ADD3):c.1144-17G>T | not provided [RCV002148683] | likely benign | 10 | 110124000 | 110124000 | Human | | name |
| 405085825 | CV2862151 | single nucleotide variant | NM_016824.5(ADD3):c.1401+17T>C | not provided [RCV003549558] | likely benign | 10 | 110124291 | 110124291 | Human | | name |
| 405149592 | CV3123261 | single nucleotide variant | NM_016824.5(ADD3):c.1608+14G>C | not provided [RCV003817494] | likely benign | 10 | 110126517 | 110126517 | Human | | name |
| 405030507 | CV3129981 | single nucleotide variant | NM_016824.5(ADD3):c.1609-14T>G | not provided [RCV003830580] | likely benign | 10 | 110130349 | 110130349 | Human | | name |
| 597951949 | CV3756553 | single nucleotide variant | NM_016824.5(ADD3):c.1521+12T>C | not provided [RCV005079610] | likely benign | 10 | 110125957 | 110125957 | Human | | name |
| 152072808 | CV1556452 | single nucleotide variant | NM_016824.5(ADD3):c.24C>T (p.Gly8=) | not provided [RCV002111688] | likely benign | 10 | 110100677 | 110100677 | Human | | name |
| 402470229 | CV3171096 | single nucleotide variant | NM_016824.5(ADD3):c.15C>T (p.Ala5=) | not provided [RCV003874059] | likely benign | 10 | 110100668 | 110100668 | Human | | name |
| 151775569 | CV1463627 | single nucleotide variant | NM_016824.5(ADD3):c.8C>T (p.Ser3Leu) | not provided [RCV001896760]|not specified [RCV004041764] | uncertain significance | 10 | 110100661 | 110100661 | Human | | name |
| 405246154 | CV2965724 | single nucleotide variant | NM_016824.5(ADD3):c.42T>G (p.Pro14=) | not provided [RCV003685357] | likely benign | 10 | 110100695 | 110100695 | Human | | name |
| 151863354 | CV1365240 | single nucleotide variant | NM_016824.5(ADD3):c.22G>A (p.Gly8Ser) | not provided [RCV002018042] | uncertain significance | 10 | 110100675 | 110100675 | Human | | name |
| 151771500 | CV1410905 | single nucleotide variant | NM_016824.5(ADD3):c.25G>A (p.Val9Met) | not provided [RCV001971226] | uncertain significance | 10 | 110100678 | 110100678 | Human | | name |
| 152069027 | CV1562210 | single nucleotide variant | NM_016824.5(ADD3):c.162G>A (p.Gln54=) | not provided [RCV002169050] | likely benign | 10 | 110100815 | 110100815 | Human | | name |
| 152035100 | CV1584803 | single nucleotide variant | NM_016824.5(ADD3):c.294C>T (p.Ile98=) | not provided [RCV002125201] | likely benign | 10 | 110112875 | 110112875 | Human | | name |
| 152157483 | CV1629887 | single nucleotide variant | NM_016824.5(ADD3):c.213G>A (p.Leu71=) | not provided [RCV002202844] | likely benign | 10 | 110112794 | 110112794 | Human | | name |
| 155945161 | CV2130171 | single nucleotide variant | NM_016824.5(ADD3):c.207A>G (p.Glu69=) | not provided [RCV002971538] | likely benign | 10 | 110112788 | 110112788 | Human | | name |
| 155939350 | CV2142800 | single nucleotide variant | NM_016824.5(ADD3):c.21A>C (p.Gln7His) | not provided [RCV002993948] | uncertain significance | 10 | 110100674 | 110100674 | Human | | name |
| 401894354 | CV2780784 | single nucleotide variant | NM_016824.5(ADD3):c.17G>T (p.Ser6Ile) | not specified [RCV004352107] | uncertain significance | 10 | 110100670 | 110100670 | Human | | name |
| 405200993 | CV3041326 | single nucleotide variant | NM_016824.5(ADD3):c.132T>C (p.Asp44=) | not provided [RCV003707439] | likely benign | 10 | 110100785 | 110100785 | Human | | name |
| 598245917 | CV3941018 | single nucleotide variant | NM_016824.5(ADD3):c.20A>G (p.Gln7Arg) | not specified [RCV005322247] | uncertain significance | 10 | 110100673 | 110100673 | Human | | name |
| 15199164 | CV751952 | single nucleotide variant | NM_016824.5(ADD3):c.147C>T (p.Phe49=) | not provided [RCV000912468] | likely benign | 10 | 110100800 | 110100800 | Human | | name |
| 127312744 | CV1156353 | microsatellite | NM_016824.5(ADD3):c.1521+15_1521+17del | not provided [RCV001519047] | benign | 10 | 110125957 | 110125959 | Human | | name |
| 151893111 | CV1337788 | single nucleotide variant | NM_016824.5(ADD3):c.79C>T (p.Arg27Cys) | not provided [RCV001944769]|not specified [RCV004040361] | uncertain significance | 10 | 110100732 | 110100732 | Human | | name |
| 151801227 | CV1354173 | single nucleotide variant | NM_016824.5(ADD3):c.86A>G (p.Asn29Ser) | not provided [RCV001867145] | uncertain significance | 10 | 110100739 | 110100739 | Human | | name |
| 152112169 | CV1558913 | single nucleotide variant | NM_016824.5(ADD3):c.453T>C (p.Phe151=) | not provided [RCV002134623] | likely benign | 10 | 110116377 | 110116377 | Human | | name |
| 152029747 | CV1568641 | single nucleotide variant | NM_016824.5(ADD3):c.633A>G (p.Thr211=) | not provided [RCV002186264] | likely benign | 10 | 110118652 | 110118652 | Human | | name |
| 152144562 | CV1582537 | single nucleotide variant | NM_016824.5(ADD3):c.468G>A (p.Leu156=) | not provided [RCV002201038] | likely benign | 10 | 110116392 | 110116392 | Human | | name |
| 152046158 | CV1591191 | single nucleotide variant | NM_016824.5(ADD3):c.537A>G (p.Leu179=) | not provided [RCV002188848] | likely benign | 10 | 110117392 | 110117392 | Human | | name |
| 152036767 | CV1609900 | single nucleotide variant | NM_016824.5(ADD3):c.672T>G (p.Pro224=) | not provided [RCV002165076] | likely benign | 10 | 110118691 | 110118691 | Human | | name |
| 152100631 | CV1645621 | single nucleotide variant | NM_016824.5(ADD3):c.609T>C (p.Ser203=) | not provided [RCV002173051] | likely benign | 10 | 110118628 | 110118628 | Human | | name |
| 152160010 | CV1649983 | single nucleotide variant | NM_016824.5(ADD3):c.747A>C (p.Pro249=) | not provided [RCV002159473] | likely benign | 10 | 110119240 | 110119240 | Human | | name |
| 155910625 | CV2141566 | single nucleotide variant | NM_016824.5(ADD3):c.312G>A (p.Ser104=) | not provided [RCV002968021] | likely benign | 10 | 110112893 | 110112893 | Human | | name |
| 156170147 | CV2197871 | single nucleotide variant | NM_016824.5(ADD3):c.70T>G (p.Tyr24Asp) | not specified [RCV004077103] | uncertain significance | 10 | 110100723 | 110100723 | Human | | name |
| 597871926 | CV3849406 | single nucleotide variant | NM_016824.5(ADD3):c.441T>C (p.Leu147=) | not provided [RCV005197587] | likely benign | 10 | 110116365 | 110116365 | Human | | name |
| 15197239 | CV723760 | single nucleotide variant | NM_016824.5(ADD3):c.489A>G (p.Val163=) | not provided [RCV000890002] | benign|likely benign | 10 | 110117344 | 110117344 | Human | | name |
| 15104665 | CV751953 | single nucleotide variant | NM_016824.5(ADD3):c.303T>C (p.Asn101=) | not provided [RCV000915394] | likely benign | 10 | 110112884 | 110112884 | Human | | name |
| 151825911 | CV1418412 | single nucleotide variant | NM_016824.5(ADD3):c.282T>G (p.Ile94Met) | not provided [RCV001920016] | uncertain significance | 10 | 110112863 | 110112863 | Human | | name |
| 151826779 | CV1426071 | single nucleotide variant | NM_016824.5(ADD3):c.1050G>A (p.Ala350=) | not provided [RCV001993309] | likely benign | 10 | 110122199 | 110122199 | Human | | name |
| 151815332 | CV1485911 | single nucleotide variant | NM_016824.5(ADD3):c.245G>A (p.Gly82Asp) | not provided [RCV002049251]|not specified [RCV004038902] | uncertain significance | 10 | 110112826 | 110112826 | Human | | name |
| 151879912 | CV1506376 | single nucleotide variant | NM_016824.5(ADD3):c.191G>T (p.Ser64Ile) | not provided [RCV001886319] | uncertain significance | 10 | 110100844 | 110100844 | Human | | name |
| 152117579 | CV1522130 | single nucleotide variant | NM_016824.5(ADD3):c.1257A>G (p.Thr419=) | not provided [RCV002081102] | likely benign | 10 | 110124130 | 110124130 | Human | | name |
| 152092612 | CV1545103 | single nucleotide variant | NM_016824.5(ADD3):c.1449C>A (p.Ile483=) | not provided [RCV002172028] | likely benign | 10 | 110125873 | 110125873 | Human | | name |
| 152083667 | CV1565327 | single nucleotide variant | NM_016824.5(ADD3):c.1332T>C (p.Asn444=) | not provided [RCV002093183] | likely benign | 10 | 110124205 | 110124205 | Human | | name |
| 152137216 | CV1580380 | single nucleotide variant | NM_016824.5(ADD3):c.1023T>C (p.Tyr341=) | not provided [RCV002156292] | likely benign | 10 | 110122172 | 110122172 | Human | | name |
| 152125289 | CV1630157 | single nucleotide variant | NM_016824.5(ADD3):c.1392C>T (p.Thr464=) | not provided [RCV002154785] | likely benign | 10 | 110124265 | 110124265 | Human | | name |
| 156408935 | CV1922118 | single nucleotide variant | NM_016824.5(ADD3):c.2004C>A (p.Ile668=) | not provided [RCV002607402] | benign|likely benign | 10 | 110133501 | 110133501 | Human | | name |
| 156440514 | CV1943562 | single nucleotide variant | NM_016824.5(ADD3):c.121A>G (p.Met41Val) | not provided [RCV003110549] | uncertain significance | 10 | 110100774 | 110100774 | Human | | name |
| 156300886 | CV1955561 | single nucleotide variant | NM_016824.5(ADD3):c.189A>C (p.Gln63His) | not provided [RCV002578222]|not specified [RCV004064531] | uncertain significance | 10 | 110100842 | 110100842 | Human | | name |
| 156260259 | CV1977509 | single nucleotide variant | NM_016824.5(ADD3):c.1929T>C (p.Ala643=) | not provided [RCV002597757] | likely benign | 10 | 110133426 | 110133426 | Human | | name |
| 156246437 | CV1991945 | single nucleotide variant | NM_016824.5(ADD3):c.1542T>C (p.Tyr514=) | not provided [RCV002645753] | likely benign | 10 | 110126437 | 110126437 | Human | | name |
| 156040494 | CV2143423 | single nucleotide variant | NM_016824.5(ADD3):c.1401G>A (p.Thr467=) | not provided [RCV002999500] | uncertain significance | 10 | 110124274 | 110124274 | Human | | name |
| 329397969 | CV2467121 | single nucleotide variant | NM_016824.5(ADD3):c.170G>A (p.Arg57Gln) | not specified [RCV004282851] | uncertain significance | 10 | 110100823 | 110100823 | Human | | name |
| 402480795 | CV2864090 | single nucleotide variant | NM_016824.5(ADD3):c.2004C>T (p.Ile668=) | not provided [RCV003544003] | likely benign | 10 | 110133501 | 110133501 | Human | | name |
| 402496246 | CV2942814 | single nucleotide variant | NM_016824.5(ADD3):c.1884A>G (p.Val628=) | not provided [RCV003661159] | likely benign | 10 | 110133381 | 110133381 | Human | | name |
| 405245550 | CV3051603 | single nucleotide variant | NM_016824.5(ADD3):c.1809T>C (p.Asn603=) | not provided [RCV003720337] | likely benign | 10 | 110132381 | 110132381 | Human | | name |
| 405116156 | CV3134199 | single nucleotide variant | NM_016824.5(ADD3):c.1761C>T (p.Asp587=) | not provided [RCV003836801] | likely benign | 10 | 110132333 | 110132333 | Human | | name |
| 405190569 | CV3156752 | single nucleotide variant | NM_016824.5(ADD3):c.256A>G (p.Thr86Ala) | not provided [RCV003859630]|not specified [RCV004369501] | uncertain significance | 10 | 110112837 | 110112837 | Human | | name |
| 402487037 | CV3171382 | single nucleotide variant | NM_016824.5(ADD3):c.1974C>T (p.Ile658=) | ADD3-related disorder [RCV003956626]|not provided [RCV003876409] | likely benign | 10 | 110133471 | 110133471 | Human | 1 | name , trait , alternate_id |
| 405283088 | CV3218483 | single nucleotide variant | NM_016824.5(ADD3):c.1560A>G (p.Gly520=) | ADD3-related disorder [RCV003957277] | likely benign | 10 | 110126455 | 110126455 | Human | | name , trait , alternate_id |
| 407471930 | CV3426217 | single nucleotide variant | NM_016824.5(ADD3):c.268G>A (p.Ala90Thr) | not specified [RCV004615825] | uncertain significance | 10 | 110112849 | 110112849 | Human | | name |
| 407460022 | CV3496900 | single nucleotide variant | NM_016824.5(ADD3):c.133C>A (p.Leu45Ile) | Cerebral palsy, spastic quadriplegic, 3 [RCV004698715] | benign | 10 | 110100786 | 110100786 | Human | 1 | name |
| 408373015 | CV3502174 | single nucleotide variant | NM_016824.5(ADD3):c.253C>A (p.Pro85Thr) | not provided [RCV004725761] | uncertain significance | 10 | 110112834 | 110112834 | Human | | name |
| 597804428 | CV3657253 | single nucleotide variant | NM_016824.5(ADD3):c.137G>A (p.Arg46Gln) | not provided [RCV005110144]|not specified [RCV004907974] | uncertain significance | 10 | 110100790 | 110100790 | Human | | name |
| 597957187 | CV3814284 | single nucleotide variant | NM_016824.5(ADD3):c.1122T>C (p.Leu374=) | not provided [RCV005162615] | likely benign | 10 | 110122271 | 110122271 | Human | | name |
| 597842934 | CV3831116 | single nucleotide variant | NM_016824.5(ADD3):c.1950C>T (p.Ser650=) | not provided [RCV005172497] | likely benign | 10 | 110133447 | 110133447 | Human | | name |
| 15148657 | CV737338 | single nucleotide variant | NM_016824.5(ADD3):c.1878C>T (p.Val626=) | not provided [RCV000900766] | likely benign | 10 | 110133375 | 110133375 | Human | | name |
| 15137054 | CV751955 | single nucleotide variant | NM_016824.5(ADD3):c.1419C>T (p.Asp473=) | not provided [RCV000921106] | likely benign | 10 | 110125843 | 110125843 | Human | | name |
| 15156912 | CV751956 | single nucleotide variant | NM_016824.5(ADD3):c.1707C>T (p.Ile569=) | not provided [RCV000924758] | likely benign | 10 | 110130461 | 110130461 | Human | | name |
| 15100675 | CV751957 | single nucleotide variant | NM_016824.5(ADD3):c.1848C>T (p.Ser616=) | ADD3-related disorder [RCV003950808]|not provided [RCV000914647] | likely benign | 10 | 110133345 | 110133345 | Human | 1 | name , trait , alternate_id |
| 15195070 | CV751958 | single nucleotide variant | NM_016824.5(ADD3):c.2118C>A (p.Ala706=) | not provided [RCV000911308] | likely benign | 10 | 110133615 | 110133615 | Human | | name |
| 15110579 | CV767624 | single nucleotide variant | NM_016824.5(ADD3):c.1842G>A (p.Leu614=) | not provided [RCV000938580] | likely benign | 10 | 110133339 | 110133339 | Human | | name |
| 15138879 | CV783533 | single nucleotide variant | NM_016824.5(ADD3):c.1386C>T (p.Pro462=) | not provided [RCV000982543] | likely benign | 10 | 110124259 | 110124259 | Human | | name |
| 15115271 | CV783534 | single nucleotide variant | NM_016824.5(ADD3):c.1803G>A (p.Pro601=) | not provided [RCV000978371] | likely benign | 10 | 110132375 | 110132375 | Human | | name |
| 8626770 | CV81914 | single nucleotide variant | NM_001121.2(ADD3):c.1995G>A (p.Lys665=) | Malignant melanoma [RCV000061993] | not provided | 10 | 110133588 | 110133588 | Human | | name |
| 126738490 | CV1017255 | single nucleotide variant | NM_016824.5(ADD3):c.995A>G (p.Asn332Ser) | Cerebral palsy, spastic quadriplegic, 3 [RCV001328970]|not provided [RCV001863195] | uncertain significance | 10 | 110122144 | 110122144 | Human | 1 | name |
| 151863622 | CV1339024 | single nucleotide variant | NM_016824.5(ADD3):c.340G>T (p.Gly114Cys) | not provided [RCV001997459]|not specified [RCV004043912] | uncertain significance | 10 | 110116264 | 110116264 | Human | | name |
| 151780531 | CV1341772 | single nucleotide variant | NM_016824.5(ADD3):c.500A>G (p.Lys167Arg) | not provided [RCV001897196] | uncertain significance | 10 | 110117355 | 110117355 | Human | | name |
| 151710738 | CV1377093 | single nucleotide variant | NM_016824.5(ADD3):c.608G>A (p.Ser203Asn) | not provided [RCV001889328] | uncertain significance | 10 | 110118627 | 110118627 | Human | | name |
| 151859521 | CV1389641 | single nucleotide variant | NM_016824.5(ADD3):c.664A>G (p.Thr222Ala) | not provided [RCV001905101] | uncertain significance | 10 | 110118683 | 110118683 | Human | | name |
| 151871553 | CV1436946 | single nucleotide variant | NM_016824.5(ADD3):c.413G>T (p.Arg138Leu) | not provided [RCV002035734] | uncertain significance | 10 | 110116337 | 110116337 | Human | | name |
| 151781419 | CV1439078 | single nucleotide variant | NM_016824.5(ADD3):c.776A>G (p.Asp259Gly) | not provided [RCV002009779]|not specified [RCV004042394] | uncertain significance | 10 | 110119269 | 110119269 | Human | | name |
| 151781724 | CV1446405 | single nucleotide variant | NM_016824.5(ADD3):c.410C>T (p.Thr137Ile) | not provided [RCV001989199]|not specified [RCV004045362] | uncertain significance | 10 | 110116334 | 110116334 | Human | | name |
| 151740268 | CV1474895 | single nucleotide variant | NM_016824.5(ADD3):c.419A>T (p.Lys140Ile) | not provided [RCV001968076] | uncertain significance | 10 | 110116343 | 110116343 | Human | | name |
| 151713637 | CV1476636 | single nucleotide variant | NM_016824.5(ADD3):c.635G>A (p.Gly212Glu) | not provided [RCV001908516] | uncertain significance | 10 | 110118654 | 110118654 | Human | | name |
| 151767240 | CV1492932 | single nucleotide variant | NM_016824.5(ADD3):c.311C>T (p.Ser104Leu) | not provided [RCV001914629]|not specified [RCV004041133] | uncertain significance | 10 | 110112892 | 110112892 | Human | | name |
| 151858064 | CV1503444 | single nucleotide variant | NM_016824.5(ADD3):c.637T>G (p.Phe213Val) | not provided [RCV001996779] | uncertain significance | 10 | 110118656 | 110118656 | Human | | name |
| 155721639 | CV1773492 | single nucleotide variant | NM_016824.5(ADD3):c.331C>T (p.Leu111Phe) | not provided [RCV002301317] | uncertain significance | 10 | 110112912 | 110112912 | Human | | name |
| 155723531 | CV1774349 | single nucleotide variant | NM_016824.5(ADD3):c.553A>G (p.Thr185Ala) | not provided [RCV002296792] | uncertain significance | 10 | 110117408 | 110117408 | Human | | name |
| 156449690 | CV1942021 | single nucleotide variant | NM_016824.5(ADD3):c.655A>G (p.Ile219Val) | not provided [RCV003121816] | uncertain significance | 10 | 110118674 | 110118674 | Human | | name |
| 156255029 | CV1981767 | single nucleotide variant | NM_016824.5(ADD3):c.377A>G (p.Asp126Gly) | not provided [RCV002646023] | uncertain significance | 10 | 110116301 | 110116301 | Human | | name |
| 156389706 | CV1996122 | single nucleotide variant | NM_016824.5(ADD3):c.934A>G (p.Asn312Asp) | not provided [RCV002654259]|not specified [RCV004612229] | uncertain significance | 10 | 110119538 | 110119538 | Human | | name |
| 156021257 | CV2043174 | single nucleotide variant | NM_016824.5(ADD3):c.406C>T (p.Leu136Phe) | not provided [RCV002780660]|not specified [RCV004612251] | uncertain significance | 10 | 110116330 | 110116330 | Human | | name |
| 156340270 | CV2055332 | single nucleotide variant | NM_016824.5(ADD3):c.854G>A (p.Ser285Asn) | not provided [RCV002811160] | uncertain significance | 10 | 110119347 | 110119347 | Human | | name |
| 156262933 | CV2059474 | single nucleotide variant | NM_016824.5(ADD3):c.416G>C (p.Cys139Ser) | not provided [RCV002806389] | uncertain significance | 10 | 110116340 | 110116340 | Human | | name |
| 156300759 | CV2129482 | single nucleotide variant | NM_016824.5(ADD3):c.791A>T (p.Asp264Val) | not provided [RCV002962133] | uncertain significance | 10 | 110119284 | 110119284 | Human | | name |
| 156103919 | CV2132421 | single nucleotide variant | NM_016824.5(ADD3):c.572A>C (p.Lys191Thr) | not provided [RCV003002320] | uncertain significance | 10 | 110118591 | 110118591 | Human | | name |
| 156140231 | CV2137777 | single nucleotide variant | NM_016824.5(ADD3):c.514A>T (p.Ile172Phe) | not provided [RCV002982286] | uncertain significance | 10 | 110117369 | 110117369 | Human | | name |
| 156333418 | CV2186600 | single nucleotide variant | NM_016824.5(ADD3):c.592G>A (p.Val198Met) | not provided [RCV003063827] | uncertain significance | 10 | 110118611 | 110118611 | Human | | name |
| 156351674 | CV2323810 | single nucleotide variant | NM_016824.5(ADD3):c.914A>G (p.Glu305Gly) | not specified [RCV004176351] | uncertain significance | 10 | 110119518 | 110119518 | Human | | name |
| 156287036 | CV2370450 | single nucleotide variant | NM_016824.5(ADD3):c.781G>T (p.Ala261Ser) | not specified [RCV004215800] | uncertain significance | 10 | 110119274 | 110119274 | Human | | name |
| 401783712 | CV2723870 | single nucleotide variant | NM_016824.5(ADD3):c.416G>A (p.Cys139Tyr) | not specified [RCV004326008] | uncertain significance | 10 | 110116340 | 110116340 | Human | | name |
| 401883815 | CV2764628 | single nucleotide variant | NM_016824.5(ADD3):c.379A>G (p.Thr127Ala) | not specified [RCV004341003] | uncertain significance | 10 | 110116303 | 110116303 | Human | | name |
| 401912751 | CV2829975 | single nucleotide variant | NM_016824.5(ADD3):c.533G>A (p.Gly178Asp) | not provided [RCV003441189] | uncertain significance | 10 | 110117388 | 110117388 | Human | | name |
| 405248147 | CV2984717 | single nucleotide variant | NM_016824.5(ADD3):c.508G>T (p.Asp170Tyr) | not provided [RCV003721024] | uncertain significance | 10 | 110117363 | 110117363 | Human | | name |
| 405708126 | CV3240466 | single nucleotide variant | NM_016824.5(ADD3):c.640A>G (p.Ser214Gly) | not specified [RCV004376222] | uncertain significance | 10 | 110118659 | 110118659 | Human | | name |
| 405708178 | CV3240473 | single nucleotide variant | NM_016824.5(ADD3):c.719T>C (p.Val240Ala) | not specified [RCV004376229] | uncertain significance | 10 | 110119212 | 110119212 | Human | | name |
| 405708218 | CV3240479 | single nucleotide variant | NM_016824.5(ADD3):c.776A>T (p.Asp259Val) | Complex neurodevelopmental disorder with motor features [RCV005358091]|not specified [RCV004376235] | uncertain significance | 10 | 110119269 | 110119269 | Human | 1 | name |
| 405708276 | CV3240488 | single nucleotide variant | NM_016824.5(ADD3):c.851C>G (p.Pro284Arg) | not specified [RCV004376244] | uncertain significance | 10 | 110119344 | 110119344 | Human | | name |
| 407471780 | CV3426177 | single nucleotide variant | NM_016824.5(ADD3):c.688A>C (p.Ile230Leu) | not specified [RCV004615785] | uncertain significance | 10 | 110118707 | 110118707 | Human | | name |
| 407471832 | CV3426188 | single nucleotide variant | NM_016824.5(ADD3):c.482T>C (p.Ile161Thr) | not specified [RCV004615796] | uncertain significance | 10 | 110116406 | 110116406 | Human | | name |
| 407471964 | CV3426225 | single nucleotide variant | NM_016824.5(ADD3):c.505C>A (p.Gln169Lys) | not specified [RCV004615833] | uncertain significance | 10 | 110117360 | 110117360 | Human | | name |
| 12849529 | CV363829 | single nucleotide variant | NM_016824.5(ADD3):c.304T>C (p.Ser102Pro) | not provided [RCV000431423] | benign|likely benign | 10 | 110112885 | 110112885 | Human | | name |
| 597804434 | CV3657287 | single nucleotide variant | NM_016824.5(ADD3):c.352C>T (p.Pro118Ser) | not specified [RCV004907977] | uncertain significance | 10 | 110116276 | 110116276 | Human | | name |
| 597804448 | CV3657300 | single nucleotide variant | NM_016824.5(ADD3):c.686T>C (p.Val229Ala) | not specified [RCV004907984] | uncertain significance | 10 | 110118705 | 110118705 | Human | | name |
| 598245778 | CV3941000 | single nucleotide variant | NM_016824.5(ADD3):c.895C>G (p.Leu299Val) | not specified [RCV005322229] | uncertain significance | 10 | 110119499 | 110119499 | Human | | name |
| 598246002 | CV3941029 | single nucleotide variant | NM_016824.5(ADD3):c.488T>G (p.Val163Gly) | not specified [RCV005322258] | uncertain significance | 10 | 110117343 | 110117343 | Human | | name |
| 598256774 | CV3941071 | single nucleotide variant | NM_016824.5(ADD3):c.325C>T (p.Pro109Ser) | not specified [RCV005324273] | uncertain significance | 10 | 110112906 | 110112906 | Human | | name |
| 21073577 | CV796355 | single nucleotide variant | NM_016824.5(ADD3):c.725C>T (p.Ser242Phe) | not provided [RCV000994499] | uncertain significance | 10 | 110119218 | 110119218 | Human | | name |
| 40888398 | CV971441 | single nucleotide variant | NM_016824.5(ADD3):c.313G>A (p.Gly105Ser) | not provided [RCV001263332] | uncertain significance | 10 | 110112894 | 110112894 | Human | | name |
| 126738484 | CV1017256 | single nucleotide variant | NM_016824.5(ADD3):c.1372G>A (p.Gly458Arg) | Cerebral palsy, spastic quadriplegic, 3 [RCV001328969]|not specified [RCV004035658] | uncertain significance | 10 | 110124245 | 110124245 | Human | 1 | name |
| 151754434 | CV1340083 | single nucleotide variant | NM_016824.5(ADD3):c.1219C>G (p.Pro407Ala) | not provided [RCV001894661] | uncertain significance | 10 | 110124092 | 110124092 | Human | | name |
| 151772234 | CV1357137 | single nucleotide variant | NM_016824.5(ADD3):c.1262C>T (p.Pro421Leu) | not provided [RCV001864184] | uncertain significance | 10 | 110124135 | 110124135 | Human | | name |
| 151851204 | CV1365828 | single nucleotide variant | NM_016824.5(ADD3):c.1975G>C (p.Glu659Gln) | not provided [RCV001922809] | uncertain significance | 10 | 110133472 | 110133472 | Human | | name |
| 151849961 | CV1389684 | single nucleotide variant | NM_016824.5(ADD3):c.1493C>T (p.Pro498Leu) | not provided [RCV001937215] | uncertain significance | 10 | 110125917 | 110125917 | Human | | name |
| 151719111 | CV1421817 | single nucleotide variant | NM_016824.5(ADD3):c.1975G>A (p.Glu659Lys) | not provided [RCV001909443]|not specified [RCV005320956] | uncertain significance | 10 | 110133472 | 110133472 | Human | | name |
| 151804999 | CV1429819 | single nucleotide variant | NM_016824.5(ADD3):c.1001A>G (p.His334Arg) | not provided [RCV001974255] | uncertain significance | 10 | 110122150 | 110122150 | Human | | name |
| 151849043 | CV1431160 | single nucleotide variant | NM_016824.5(ADD3):c.1216A>G (p.Ile406Val) | not provided [RCV001922520]|not specified [RCV004611964] | uncertain significance | 10 | 110124089 | 110124089 | Human | | name |
| 151780249 | CV1442769 | single nucleotide variant | NM_016824.5(ADD3):c.1934G>A (p.Arg645Gln) | not provided [RCV002009671]|not specified [RCV004046238] | uncertain significance | 10 | 110133431 | 110133431 | Human | | name |
| 151765825 | CV1447834 | single nucleotide variant | NM_016824.5(ADD3):c.1024A>G (p.Lys342Glu) | not provided [RCV001895843]|not specified [RCV004041317] | uncertain significance | 10 | 110122173 | 110122173 | Human | | name |
| 151745109 | CV1450296 | single nucleotide variant | NM_016824.5(ADD3):c.1712G>A (p.Arg571His) | not provided [RCV001893682]|not specified [RCV004611966] | uncertain significance | 10 | 110130466 | 110130466 | Human | | name |
| 151808499 | CV1476261 | single nucleotide variant | NM_016824.5(ADD3):c.2010A>C (p.Glu670Asp) | not provided [RCV001899722] | uncertain significance | 10 | 110133507 | 110133507 | Human | | name |
| 151735643 | CV1490922 | single nucleotide variant | NM_016824.5(ADD3):c.1241C>T (p.Ser414Phe) | not provided [RCV001967582] | uncertain significance | 10 | 110124114 | 110124114 | Human | | name |
| 151868402 | CV1492193 | single nucleotide variant | NM_016824.5(ADD3):c.1804C>A (p.Gln602Lys) | not provided [RCV002018628] | uncertain significance | 10 | 110132376 | 110132376 | Human | | name |
| 152106024 | CV1560012 | single nucleotide variant | NM_016824.5(ADD3):c.1771G>T (p.Val591Phe) | not provided [RCV002133861] | likely benign | 10 | 110132343 | 110132343 | Human | | name |
| 152096648 | CV1566021 | single nucleotide variant | NM_016824.5(ADD3):c.1762G>A (p.Ala588Thr) | not provided [RCV002094931] | likely benign | 10 | 110132334 | 110132334 | Human | | name |
| 155665990 | CV1773355 | single nucleotide variant | NM_016824.5(ADD3):c.2071A>G (p.Thr691Ala) | not provided [RCV002297067] | uncertain significance | 10 | 110133568 | 110133568 | Human | | name |
| 155691536 | CV1778023 | single nucleotide variant | NM_016824.5(ADD3):c.2067C>G (p.Phe689Leu) | not provided [RCV002299333] | uncertain significance | 10 | 110133564 | 110133564 | Human | | name |
| 156045075 | CV1914783 | single nucleotide variant | NM_016824.5(ADD3):c.1760A>G (p.Asp587Gly) | not provided [RCV002620406]|not specified [RCV004907828] | uncertain significance | 10 | 110132332 | 110132332 | Human | | name |
| 156187417 | CV1919375 | single nucleotide variant | NM_016824.5(ADD3):c.1802C>T (p.Pro601Leu) | not provided [RCV002595261]|not specified [RCV004907824] | uncertain significance | 10 | 110132374 | 110132374 | Human | | name |
| 156440525 | CV1943575 | single nucleotide variant | NM_016824.5(ADD3):c.1906C>T (p.His636Tyr) | not provided [RCV003110560]|not specified [RCV004614396] | uncertain significance | 10 | 110133403 | 110133403 | Human | | name |
| 156447030 | CV1944662 | single nucleotide variant | NM_016824.5(ADD3):c.1300C>T (p.Arg434Cys) | not provided [RCV003118556] | uncertain significance | 10 | 110124173 | 110124173 | Human | | name |
| 156397267 | CV1965686 | single nucleotide variant | NM_016824.5(ADD3):c.1064G>T (p.Gly355Val) | not provided [RCV002584501] | uncertain significance | 10 | 110122213 | 110122213 | Human | | name |
| 155903688 | CV1975834 | single nucleotide variant | NM_016824.5(ADD3):c.1724G>A (p.Gly575Asp) | not provided [RCV002613544] | uncertain significance | 10 | 110130478 | 110130478 | Human | | name |
| 155909196 | CV2017514 | single nucleotide variant | NM_016824.5(ADD3):c.1993C>T (p.Pro665Ser) | not provided [RCV002681589] | uncertain significance | 10 | 110133490 | 110133490 | Human | | name |
| 156021906 | CV2019408 | single nucleotide variant | NM_016824.5(ADD3):c.1907A>C (p.His636Pro) | not provided [RCV002691042] | uncertain significance | 10 | 110133404 | 110133404 | Human | | name |
| 155910860 | CV2041333 | single nucleotide variant | NM_016824.5(ADD3):c.2026G>A (p.Gly676Ser) | not provided [RCV002771572] | uncertain significance | 10 | 110133523 | 110133523 | Human | | name |
| 156006365 | CV2041969 | single nucleotide variant | NM_016824.5(ADD3):c.1162G>C (p.Ala388Pro) | not provided [RCV002756449] | uncertain significance | 10 | 110124035 | 110124035 | Human | | name |
| 156118745 | CV2055203 | single nucleotide variant | NM_016824.5(ADD3):c.1309A>G (p.Thr437Ala) | not provided [RCV002825216] | uncertain significance | 10 | 110124182 | 110124182 | Human | | name |
| 155976572 | CV2085230 | single nucleotide variant | NM_016824.5(ADD3):c.1615C>T (p.Gln539Ter) | not provided [RCV002863559] | uncertain significance | 10 | 110130369 | 110130369 | Human | | name |
| 155979180 | CV2093918 | single nucleotide variant | NM_016824.5(ADD3):c.1690G>A (p.Glu564Lys) | not provided [RCV002881846] | uncertain significance | 10 | 110130444 | 110130444 | Human | | name |
| 156057858 | CV2134011 | single nucleotide variant | NM_016824.5(ADD3):c.1225A>C (p.Thr409Pro) | not provided [RCV003000096] | uncertain significance | 10 | 110124098 | 110124098 | Human | | name |
| 155977011 | CV2146614 | single nucleotide variant | NM_016824.5(ADD3):c.1426A>G (p.Lys476Glu) | not provided [RCV003016198] | uncertain significance | 10 | 110125850 | 110125850 | Human | | name |
| 156149878 | CV2175271 | single nucleotide variant | NM_016824.5(ADD3):c.2068C>T (p.Arg690Cys) | not provided [RCV003040335] | uncertain significance | 10 | 110133565 | 110133565 | Human | | name |
| 156105238 | CV2217545 | single nucleotide variant | NM_016824.5(ADD3):c.1634A>G (p.His545Arg) | not specified [RCV004090080] | uncertain significance | 10 | 110130388 | 110130388 | Human | | name |
| 155936899 | CV2379924 | single nucleotide variant | NM_016824.5(ADD3):c.1703C>T (p.Thr568Ile) | not specified [RCV004222071] | uncertain significance | 10 | 110130457 | 110130457 | Human | | name |
| 243053576 | CV2416345 | single nucleotide variant | NM_016824.5(ADD3):c.1741C>G (p.Gln581Glu) | not provided [RCV003149406] | uncertain significance | 10 | 110132313 | 110132313 | Human | | name |
| 11351852 | CV243827 | single nucleotide variant | NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp) | Cerebral palsy [RCV000234930]|Cerebral palsy, spastic quadriplegic, 3 [RCV000231295]|not provided [RCV005230176] | pathogenic|likely pathogenic | 10 | 110122249 | 110122249 | Human | 3 | name |
| 329379917 | CV2444074 | single nucleotide variant | NM_016824.5(ADD3):c.1049C>T (p.Ala350Val) | not specified [RCV004260821] | likely benign | 10 | 110122198 | 110122198 | Human | | name |
| 329390987 | CV2447594 | single nucleotide variant | NM_016824.5(ADD3):c.1160A>G (p.Tyr387Cys) | not specified [RCV004258401] | uncertain significance | 10 | 110124033 | 110124033 | Human | | name |
| 329396364 | CV2462554 | single nucleotide variant | NM_016824.5(ADD3):c.1700G>C (p.Arg567Thr) | not specified [RCV004278506] | uncertain significance | 10 | 110130454 | 110130454 | Human | | name |
| 329384402 | CV2472846 | single nucleotide variant | NM_016824.5(ADD3):c.1142T>C (p.Leu381Ser) | not provided [RCV003214148]|not specified [RCV004907838] | uncertain significance | 10 | 110122291 | 110122291 | Human | | name |
| 329395040 | CV2473010 | single nucleotide variant | NM_016824.5(ADD3):c.1130C>T (p.Thr377Ile) | not provided [RCV003218993] | uncertain significance | 10 | 110122279 | 110122279 | Human | | name |
| 401747741 | CV2688998 | single nucleotide variant | NM_016824.5(ADD3):c.2014C>G (p.Leu672Val) | not specified [RCV004305779] | uncertain significance | 10 | 110133511 | 110133511 | Human | | name |
| 401867767 | CV2767078 | single nucleotide variant | NM_016824.5(ADD3):c.1750C>G (p.Leu584Val) | not specified [RCV004347481] | uncertain significance | 10 | 110132322 | 110132322 | Human | | name |
| 404986818 | CV2879104 | single nucleotide variant | NM_016824.5(ADD3):c.1588G>A (p.Val530Ile) | not provided [RCV003548198] | uncertain significance | 10 | 110126483 | 110126483 | Human | | name |
| 405244608 | CV3050710 | single nucleotide variant | NM_016824.5(ADD3):c.1078T>G (p.Ser360Ala) | not provided [RCV003720035] | uncertain significance | 10 | 110122227 | 110122227 | Human | | name |
| 405707740 | CV3240408 | single nucleotide variant | NM_016824.5(ADD3):c.1175C>G (p.Pro392Arg) | not specified [RCV004376164] | uncertain significance | 10 | 110124048 | 110124048 | Human | | name |
| 405707890 | CV3240430 | single nucleotide variant | NM_016824.5(ADD3):c.1763C>G (p.Ala588Gly) | Complex neurodevelopmental disorder with motor features [RCV005358090]|not specified [RCV004376186] | uncertain significance | 10 | 110132335 | 110132335 | Human | 1 | name |
| 405707985 | CV3240444 | single nucleotide variant | NM_016824.5(ADD3):c.2001A>C (p.Lys667Asn) | not specified [RCV004376200] | uncertain significance | 10 | 110133498 | 110133498 | Human | | name |
| 407427519 | CV3411925 | single nucleotide variant | NM_016824.5(ADD3):c.1421C>T (p.Ser474Leu) | not provided [RCV004592096] | uncertain significance | 10 | 110125845 | 110125845 | Human | | name |
| 597804430 | CV3657259 | single nucleotide variant | NM_016824.5(ADD3):c.1183C>G (p.Arg395Gly) | not specified [RCV004907975] | uncertain significance | 10 | 110124056 | 110124056 | Human | | name |
| 597804432 | CV3657269 | single nucleotide variant | NM_016824.5(ADD3):c.1299G>C (p.Gln433His) | not specified [RCV004907976] | uncertain significance | 10 | 110124172 | 110124172 | Human | | name |
| 597804472 | CV3657311 | single nucleotide variant | NM_016824.5(ADD3):c.1612A>C (p.Met538Leu) | not specified [RCV004907995] | uncertain significance | 10 | 110130366 | 110130366 | Human | | name |
| 598246068 | CV3941040 | single nucleotide variant | NM_016824.5(ADD3):c.1954A>T (p.Ser652Cys) | not specified [RCV005322267] | uncertain significance | 10 | 110133451 | 110133451 | Human | | name |
| 598246140 | CV3941051 | single nucleotide variant | NM_016824.5(ADD3):c.1969A>C (p.Asn657His) | not specified [RCV005322278] | uncertain significance | 10 | 110133466 | 110133466 | Human | | name |
| 598256728 | CV3941061 | single nucleotide variant | NM_016824.5(ADD3):c.1270C>T (p.Pro424Ser) | not specified [RCV005324263] | uncertain significance | 10 | 110124143 | 110124143 | Human | | name |
| 15174844 | CV701167 | single nucleotide variant | NM_016824.5(ADD3):c.1596T>A (p.Asp532Glu) | not provided [RCV000950436] | benign|conflicting interpretations of pathogenicity | 10 | 110126491 | 110126491 | Human | | name |
| 15198797 | CV701168 | single nucleotide variant | NM_016824.5(ADD3):c.1736C>G (p.Ala579Gly) | not provided [RCV000956863] | benign | 10 | 110132308 | 110132308 | Human | | name |
| 15158817 | CV712149 | single nucleotide variant | NM_016824.5(ADD3):c.1905G>C (p.Met635Ile) | not provided [RCV000969595] | benign | 10 | 110133402 | 110133402 | Human | | name |
| 15154753 | CV723761 | single nucleotide variant | NM_016824.5(ADD3):c.1639C>T (p.Pro547Ser) | ADD3-related disorder [RCV003975514]|not provided [RCV000880280] | likely benign | 10 | 110130393 | 110130393 | Human | 1 | name , trait , alternate_id |
| 15105100 | CV751954 | single nucleotide variant | NM_016824.5(ADD3):c.1060G>C (p.Gly354Arg) | not provided [RCV000915481] | likely benign | 10 | 110122209 | 110122209 | Human | | name |
| 38597068 | CV801862 | single nucleotide variant | NM_016824.5(ADD3):c.1607C>T (p.Ser536Phe) | Microcephaly [RCV001252887] | uncertain significance | 10 | 110126502 | 110126502 | Human | 2 | name |
| 8626771 | CV81915 | single nucleotide variant | NM_001121.2(ADD3):c.1998C>A (p.Asn666Lys) | Malignant melanoma [RCV000061994] | not provided | 10 | 110133591 | 110133591 | Human | | name |
| 13462546 | CV438723 | microsatellite | NM_016824.5(ADD3):c.2119TAAA[1] (p.Ter707=) | not provided [RCV000514349] | conflicting interpretations of pathogenicity|uncertain significance | 10 | 110133616 | 110133619 | Human | | name |
| 597648405 | CV3551716 | deletion | NM_016824.5(ADD3):c.1676_1678del (p.Glu559del) | not provided [RCV004820429] | uncertain significance | 10 | 110130428 | 110130430 | Human | | name |
| 12849337 | CV364170 | deletion | NM_016824.5(ADD3):c.2101_2103del (p.Lys701del) | not provided [RCV000428169] | uncertain significance | 10 | 110133598 | 110133600 | Human | | name |
| 405134074 | CV3051865 | inversion | NM_016824.5(ADD3):c.1869_1870inv (p.Glu623_Val624delinsAspLeu) | not provided [RCV003725086] | likely benign | 10 | 110133366 | 110133367 | Human | | name |