| 8587050 | CV121676 | single nucleotide variant | NM_133265.2(AMOT):c.-600C>T | Lung cancer [RCV000102196] | uncertain significance | X | 112840619 | 112840619 | Human | | name |
| 617150575 | CV4013502 | single nucleotide variant | NM_001113490.2(AMOT):c.2T>C (p.Met1Thr) | See cases [RCV005417364] | uncertain significance | X | 112823125 | 112823125 | Human | | name |
| 405817022 | CV3272762 | single nucleotide variant | NM_001113490.2(AMOT):c.20A>T (p.Gln7Leu) | not specified [RCV004412007] | uncertain significance | X | 112823107 | 112823107 | Human | | name |
| 156234260 | CV2245327 | single nucleotide variant | NM_001113490.2(AMOT):c.38C>T (p.Thr13Met) | not specified [RCV004107079] | uncertain significance | X | 112823089 | 112823089 | Human | | name |
| 156244868 | CV2267420 | single nucleotide variant | NM_001113490.2(AMOT):c.70C>T (p.Arg24Cys) | not specified [RCV004135855] | uncertain significance | X | 112823057 | 112823057 | Human | | name |
| 597624575 | CV3695621 | single nucleotide variant | NM_001113490.2(AMOT):c.29G>T (p.Gly10Val) | not specified [RCV004937622] | uncertain significance | X | 112823098 | 112823098 | Human | | name |
| 15110992 | CV729373 | single nucleotide variant | NM_001113490.2(AMOT):c.948T>C (p.Ser316=) | not provided [RCV000894180] | benign | X | 112815802 | 112815802 | Human | | name |
| 329351802 | CV2455327 | single nucleotide variant | NM_001113490.2(AMOT):c.199C>G (p.His67Asp) | not specified [RCV004274834] | uncertain significance | X | 112822928 | 112822928 | Human | | name |
| 401921389 | CV2826813 | single nucleotide variant | NM_001113490.2(AMOT):c.2751T>C (p.Ala917=) | not provided [RCV003432400] | likely benign | X | 112779403 | 112779403 | Human | | name |
| 401921393 | CV2826816 | single nucleotide variant | NM_001113490.2(AMOT):c.1329C>T (p.Asp443=) | not provided [RCV003432403] | likely benign | X | 112815421 | 112815421 | Human | | name |
| 405816989 | CV3272729 | single nucleotide variant | NM_001113490.2(AMOT):c.116A>T (p.Gln39Leu) | not specified [RCV004411974] | uncertain significance | X | 112823011 | 112823011 | Human | | name |
| 405817008 | CV3272748 | single nucleotide variant | NM_001113490.2(AMOT):c.148A>T (p.Ser50Cys) | not specified [RCV004411993] | uncertain significance | X | 112822979 | 112822979 | Human | | name |
| 405817030 | CV3272794 | single nucleotide variant | NM_001113490.2(AMOT):c.289T>C (p.Ser97Pro) | not specified [RCV004412039] | uncertain significance | X | 112822838 | 112822838 | Human | | name |
| 407494082 | CV3446566 | single nucleotide variant | NM_001113490.2(AMOT):c.117G>C (p.Gln39His) | not specified [RCV004642901] | uncertain significance | X | 112823010 | 112823010 | Human | | name |
| 597624628 | CV3695655 | single nucleotide variant | NM_001113490.2(AMOT):c.292C>T (p.Pro98Ser) | not specified [RCV004937650] | uncertain significance | X | 112822835 | 112822835 | Human | | name |
| 597794972 | CV3698621 | single nucleotide variant | NM_001113490.2(AMOT):c.152G>T (p.Gly51Val) | not specified [RCV004934690] | uncertain significance | X | 112822975 | 112822975 | Human | | name |
| 15097597 | CV706083 | single nucleotide variant | NM_001113490.2(AMOT):c.2340G>A (p.Ser780=) | not provided [RCV000958351] | benign | X | 112781019 | 112781019 | Human | | name |
| 15129527 | CV717604 | single nucleotide variant | NM_001113490.2(AMOT):c.1614G>A (p.Ser538=) | not provided [RCV000964272] | benign | X | 112809910 | 112809910 | Human | | name |
| 15189724 | CV743108 | single nucleotide variant | NM_001113490.2(AMOT):c.2946G>A (p.Pro982=) | not provided [RCV000909738] | benign | X | 112779208 | 112779208 | Human | | name |
| 15125216 | CV743110 | single nucleotide variant | NM_001113490.2(AMOT):c.1401A>G (p.Thr467=) | not provided [RCV000896723] | benign | X | 112811385 | 112811385 | Human | | name |
| 156210330 | CV2309688 | single nucleotide variant | NM_001113490.2(AMOT):c.947C>T (p.Ser316Phe) | not specified [RCV004160824] | uncertain significance | X | 112815803 | 112815803 | Human | | name |
| 401762199 | CV2723354 | single nucleotide variant | NM_001113490.2(AMOT):c.788A>G (p.Tyr263Cys) | not specified [RCV004329567] | uncertain significance | X | 112822339 | 112822339 | Human | | name |
| 401876761 | CV2783011 | single nucleotide variant | NM_001113490.2(AMOT):c.395A>G (p.Tyr132Cys) | not specified [RCV004361799] | uncertain significance | X | 112822732 | 112822732 | Human | | name |
| 405817050 | CV3272814 | single nucleotide variant | NM_001113490.2(AMOT):c.458A>G (p.Asn153Ser) | not specified [RCV004412059] | uncertain significance | X | 112822669 | 112822669 | Human | | name |
| 405817054 | CV3272818 | single nucleotide variant | NM_001113490.2(AMOT):c.694G>A (p.Gly232Ser) | not specified [RCV004412063] | uncertain significance | X | 112822433 | 112822433 | Human | | name |
| 405817062 | CV3272826 | single nucleotide variant | NM_001113490.2(AMOT):c.719C>A (p.Pro240Gln) | not specified [RCV004412071] | uncertain significance | X | 112822408 | 112822408 | Human | | name |
| 405817067 | CV3272831 | single nucleotide variant | NM_001113490.2(AMOT):c.961C>T (p.Pro321Ser) | not specified [RCV004412076] | uncertain significance | X | 112815789 | 112815789 | Human | | name |
| 407494102 | CV3446577 | single nucleotide variant | NM_001113490.2(AMOT):c.820A>C (p.Thr274Pro) | not specified [RCV004642908] | uncertain significance | X | 112822307 | 112822307 | Human | | name |
| 597624564 | CV3695602 | single nucleotide variant | NM_001113490.2(AMOT):c.797A>T (p.His266Leu) | not specified [RCV004937611] | uncertain significance | X | 112822330 | 112822330 | Human | | name |
| 597624619 | CV3695645 | single nucleotide variant | NM_001113490.2(AMOT):c.941T>C (p.Leu314Pro) | not specified [RCV004937641] | uncertain significance | X | 112815809 | 112815809 | Human | | name |
| 597624635 | CV3695665 | single nucleotide variant | NM_001113490.2(AMOT):c.359G>A (p.Arg120Gln) | not specified [RCV004937657] | uncertain significance | X | 112822768 | 112822768 | Human | | name |
| 598211231 | CV3972582 | single nucleotide variant | NM_001113490.2(AMOT):c.800G>A (p.Arg267His) | not specified [RCV005358648] | uncertain significance | X | 112822327 | 112822327 | Human | | name |
| 150410897 | CV1196287 | single nucleotide variant | NM_001113490.2(AMOT):c.1103G>A (p.Arg368His) | not provided [RCV001573368] | likely benign | X | 112815647 | 112815647 | Human | | name |
| 156136848 | CV2210316 | single nucleotide variant | NM_001113490.2(AMOT):c.1414G>C (p.Val472Leu) | not specified [RCV004089475] | uncertain significance | X | 112811372 | 112811372 | Human | | name |
| 156240348 | CV2245970 | single nucleotide variant | NM_001113490.2(AMOT):c.2884T>G (p.Ser962Ala) | not specified [RCV004113897] | likely benign | X | 112779270 | 112779270 | Human | | name |
| 156017473 | CV2262870 | single nucleotide variant | NM_001113490.2(AMOT):c.1531C>A (p.Leu511Met) | not specified [RCV004125016] | uncertain significance | X | 112811255 | 112811255 | Human | | name |
| 11051522 | CV226656 | single nucleotide variant | NM_001113490.2(AMOT):c.1926G>C (p.Gln642His) | Cerebral visual impairment and intellectual disability [RCV000210410] | likely pathogenic | X | 112791832 | 112791832 | Human | 1 | name |
| 156277984 | CV2300334 | single nucleotide variant | NM_001113490.2(AMOT):c.1505G>A (p.Arg502Gln) | not specified [RCV004153279] | uncertain significance | X | 112811281 | 112811281 | Human | | name |
| 155942029 | CV2301031 | single nucleotide variant | NM_001113490.2(AMOT):c.1228A>G (p.Met410Val) | not specified [RCV004158184] | uncertain significance | X | 112815522 | 112815522 | Human | | name |
| 155971325 | CV2309285 | single nucleotide variant | NM_001113490.2(AMOT):c.1438G>C (p.Val480Leu) | not specified [RCV004165447] | uncertain significance | X | 112811348 | 112811348 | Human | | name |
| 155974025 | CV2317805 | single nucleotide variant | NM_001113490.2(AMOT):c.1601G>A (p.Arg534Lys) | not specified [RCV004175051] | uncertain significance | X | 112809923 | 112809923 | Human | | name |
| 155910457 | CV2369943 | single nucleotide variant | NM_001113490.2(AMOT):c.1295C>G (p.Ser432Cys) | not specified [RCV004208408] | uncertain significance | X | 112815455 | 112815455 | Human | | name |
| 155936532 | CV2379846 | single nucleotide variant | NM_001113490.2(AMOT):c.1784A>G (p.Lys595Arg) | not specified [RCV004219956] | uncertain significance | X | 112791974 | 112791974 | Human | | name |
| 329392698 | CV2471511 | single nucleotide variant | NM_001113490.2(AMOT):c.1084C>T (p.His362Tyr) | not specified [RCV004280503] | uncertain significance | X | 112815666 | 112815666 | Human | | name |
| 401767644 | CV2681730 | single nucleotide variant | NM_001113490.2(AMOT):c.1327G>A (p.Asp443Asn) | not specified [RCV004294274] | uncertain significance | X | 112815423 | 112815423 | Human | | name |
| 401773059 | CV2709099 | single nucleotide variant | NM_001113490.2(AMOT):c.1525A>G (p.Arg509Gly) | not specified [RCV004314434] | uncertain significance | X | 112811261 | 112811261 | Human | | name |
| 401856408 | CV2754683 | single nucleotide variant | NM_001113490.2(AMOT):c.2339C>T (p.Ser780Leu) | not specified [RCV004339354] | uncertain significance | X | 112781020 | 112781020 | Human | | name |
| 401877277 | CV2764571 | single nucleotide variant | NM_001113490.2(AMOT):c.1379C>G (p.Ala460Gly) | not specified [RCV004339126] | uncertain significance | X | 112815371 | 112815371 | Human | | name |
| 401868139 | CV2767155 | single nucleotide variant | NM_001113490.2(AMOT):c.2338T>A (p.Ser780Thr) | not specified [RCV004347552] | uncertain significance | X | 112781021 | 112781021 | Human | | name |
| 401921391 | CV2826814 | single nucleotide variant | NM_001113490.2(AMOT):c.2738T>C (p.Val913Ala) | not provided [RCV003432401] | likely benign | X | 112779416 | 112779416 | Human | | name |
| 401921392 | CV2826815 | single nucleotide variant | NM_001113490.2(AMOT):c.2683G>A (p.Ala895Thr) | not provided [RCV003432402] | likely benign | X | 112779471 | 112779471 | Human | | name |
| 405816986 | CV3272726 | single nucleotide variant | NM_001113490.2(AMOT):c.1112A>T (p.Gln371Leu) | not specified [RCV004411971] | uncertain significance | X | 112815638 | 112815638 | Human | | name |
| 405816998 | CV3272738 | single nucleotide variant | NM_001113490.2(AMOT):c.1334A>G (p.Asn445Ser) | not specified [RCV004411983] | uncertain significance | X | 112815416 | 112815416 | Human | | name |
| 405817014 | CV3272754 | single nucleotide variant | NM_001113490.2(AMOT):c.1678A>T (p.Thr560Ser) | not specified [RCV004411999] | uncertain significance | X | 112805045 | 112805045 | Human | | name |
| 405817142 | CV3272765 | single nucleotide variant | NM_001113490.2(AMOT):c.2107G>A (p.Ala703Thr) | not specified [RCV004412010] | uncertain significance | X | 112790602 | 112790602 | Human | | name |
| 405817136 | CV3272771 | single nucleotide variant | NM_001113490.2(AMOT):c.2348G>A (p.Arg783Gln) | not specified [RCV004412016] | uncertain significance | X | 112781011 | 112781011 | Human | | name |
| 405817133 | CV3272774 | single nucleotide variant | NM_001113490.2(AMOT):c.2378A>G (p.Asn793Ser) | not specified [RCV004412019] | uncertain significance | X | 112780981 | 112780981 | Human | | name |
| 405817130 | CV3272777 | single nucleotide variant | NM_001113490.2(AMOT):c.2479C>T (p.Leu827Phe) | not specified [RCV004412022] | uncertain significance | X | 112779675 | 112779675 | Human | | name |
| 405817127 | CV3272780 | single nucleotide variant | NM_001113490.2(AMOT):c.2488G>A (p.Gly830Arg) | not specified [RCV004412025] | uncertain significance | X | 112779666 | 112779666 | Human | | name |
| 407469092 | CV3446588 | single nucleotide variant | NM_001113490.2(AMOT):c.1646G>A (p.Arg549His) | not specified [RCV004636509] | uncertain significance | X | 112805077 | 112805077 | Human | | name |
| 407469105 | CV3446598 | single nucleotide variant | NM_001113490.2(AMOT):c.1952A>G (p.Asn651Ser) | not specified [RCV004636513] | likely benign | X | 112790757 | 112790757 | Human | | name |
| 407469111 | CV3446609 | single nucleotide variant | NM_001113490.2(AMOT):c.1541G>A (p.Arg514His) | not specified [RCV004636515] | uncertain significance | X | 112809983 | 112809983 | Human | | name |
| 597624562 | CV3695583 | single nucleotide variant | NM_001113490.2(AMOT):c.2797G>A (p.Ala933Thr) | not specified [RCV004937609] | uncertain significance | X | 112779357 | 112779357 | Human | | name |
| 597624569 | CV3695612 | single nucleotide variant | NM_001113490.2(AMOT):c.1337G>A (p.Arg446Gln) | not specified [RCV004937616] | uncertain significance | X | 112815413 | 112815413 | Human | | name |
| 597624582 | CV3695629 | single nucleotide variant | NM_001113490.2(AMOT):c.2384G>T (p.Gly795Val) | not specified [RCV004937629] | uncertain significance | X | 112780975 | 112780975 | Human | | name |
| 597624612 | CV3695637 | single nucleotide variant | NM_001113490.2(AMOT):c.1220A>T (p.Tyr407Phe) | not specified [RCV004937635] | uncertain significance | X | 112815530 | 112815530 | Human | | name |
| 597794952 | CV3698593 | single nucleotide variant | NM_001113490.2(AMOT):c.2367G>A (p.Met789Ile) | not specified [RCV004934683] | uncertain significance | X | 112780992 | 112780992 | Human | | name |
| 597794961 | CV3698602 | single nucleotide variant | NM_001113490.2(AMOT):c.1234C>T (p.Arg412Trp) | not specified [RCV004934686] | uncertain significance | X | 112815516 | 112815516 | Human | | name |
| 597798382 | CV3698612 | single nucleotide variant | NM_001113490.2(AMOT):c.1622T>G (p.Phe541Cys) | not specified [RCV004936116] | uncertain significance | X | 112809902 | 112809902 | Human | | name |
| 598211216 | CV3972571 | single nucleotide variant | NM_001113490.2(AMOT):c.1986G>C (p.Glu662Asp) | not specified [RCV005358646] | uncertain significance | X | 112790723 | 112790723 | Human | | name |
| 15168918 | CV717603 | single nucleotide variant | NM_001113490.2(AMOT):c.2957C>T (p.Pro986Leu) | not provided [RCV000971710]|not specified [RCV004029961] | likely benign|uncertain significance | X | 112779197 | 112779197 | Human | | name |
| 15188806 | CV729372 | single nucleotide variant | NM_001113490.2(AMOT):c.2501C>A (p.Ala834Asp) | not provided [RCV000887645]|not specified [RCV004028364] | likely benign|uncertain significance | X | 112779653 | 112779653 | Human | | name |
| 15144067 | CV743109 | single nucleotide variant | NM_001113490.2(AMOT):c.2695A>G (p.Thr899Ala) | not provided [RCV000899942] | benign | X | 112779459 | 112779459 | Human | | name |
| 155960871 | CV2285450 | single nucleotide variant | NM_001113490.2(AMOT):c.3067G>C (p.Ala1023Pro) | not specified [RCV004139304] | uncertain significance | X | 112779087 | 112779087 | Human | | name |
| 329392907 | CV2469062 | single nucleotide variant | NM_001113490.2(AMOT):c.3160G>C (p.Gly1054Arg) | not specified [RCV004274306] | uncertain significance | X | 112778662 | 112778662 | Human | | name |
| 401759829 | CV2707161 | single nucleotide variant | NM_001113490.2(AMOT):c.3064G>C (p.Val1022Leu) | not specified [RCV004315525] | likely benign | X | 112779090 | 112779090 | Human | | name |
| 401863103 | CV2755857 | single nucleotide variant | NM_001113490.2(AMOT):c.3172C>T (p.His1058Tyr) | not specified [RCV004342225] | uncertain significance | X | 112778650 | 112778650 | Human | | name |
| 401897144 | CV2789864 | single nucleotide variant | NM_001113490.2(AMOT):c.3192A>C (p.Arg1064Ser) | not specified [RCV004362251] | uncertain significance | X | 112778630 | 112778630 | Human | | name |
| 401921388 | CV2826812 | single nucleotide variant | NM_001113490.2(AMOT):c.3023C>T (p.Pro1008Leu) | not provided [RCV003432399] | likely benign | X | 112779131 | 112779131 | Human | | name |
| 597624563 | CV3695594 | single nucleotide variant | NM_001113490.2(AMOT):c.3112C>T (p.His1038Tyr) | not specified [RCV004937610] | uncertain significance | X | 112779042 | 112779042 | Human | | name |
| 597624561 | CV3698630 | single nucleotide variant | NM_001113490.2(AMOT):c.3237G>A (p.Met1079Ile) | not specified [RCV004937608] | uncertain significance | X | 112778585 | 112778585 | Human | | name |
| 598195409 | CV3972560 | single nucleotide variant | NM_001113490.2(AMOT):c.3190A>G (p.Arg1064Gly) | not specified [RCV005354988] | uncertain significance | X | 112778632 | 112778632 | Human | | name |
| 15120940 | CV717602 | single nucleotide variant | NM_001113490.2(AMOT):c.3095C>T (p.Ala1032Val) | not provided [RCV000962803] | benign | X | 112779059 | 112779059 | Human | | name |
| 401857278 | CV2752161 | indel | NM_001113490.2(AMOT):c.3043_3044delinsT (p.Ala1015fs) | not provided [RCV003336038] | uncertain significance | X | 112779110 | 112779111 | Human | | name |
| 15175122 | CV706082 | deletion | NM_001113490.2(AMOT):c.2738_2764del (p.Val913_Pro921del) | not provided [RCV000950503] | benign | X | 112779390 | 112779416 | Human | | name |
| 15190212 | CV729371 | deletion | NM_001113490.2(AMOT):c.2683_2703del (p.Ala895_Ala901del) | not provided [RCV000888038] | likely benign | X | 112779451 | 112779471 | Human | | name |
| 597715667 | CV3733207 | single nucleotide variant | NM_130847.3(AMOTL1):c.199+2T>C | not provided [RCV005052396] | uncertain significance | 11 | 94795162 | 94795162 | Human | | name |
| 156031574 | CV2376379 | single nucleotide variant | NM_016201.4(AMOTL2):c.23C>T (p.Ser8Leu) | not specified [RCV004220570] | uncertain significance | 3 | 134371411 | 134371411 | Human | | name |
| 598195647 | CV3972659 | single nucleotide variant | NM_130847.3(AMOTL1):c.20G>A (p.Arg7His) | not specified [RCV005355032] | uncertain significance | 11 | 94768531 | 94768531 | Human | | name |
| 401770044 | CV2710841 | single nucleotide variant | NM_016201.4(AMOTL2):c.82A>T (p.Thr28Ser) | not specified [RCV004308762] | uncertain significance | 3 | 134371352 | 134371352 | Human | | name |
| 405817410 | CV3269316 | single nucleotide variant | NM_016201.4(AMOTL2):c.85C>T (p.Arg29Cys) | not specified [RCV004412396] | uncertain significance | 3 | 134371349 | 134371349 | Human | | name |
| 405852846 | CV3393272 | single nucleotide variant | NM_130847.3(AMOTL1):c.519G>A (p.Glu173=) | not provided [RCV004546002] | likely benign | 11 | 94799709 | 94799709 | Human | | name |
| 407425376 | CV3409476 | single nucleotide variant | NM_130847.3(AMOTL1):c.768C>T (p.Gly256=) | not provided [RCV004585408] | likely benign | 11 | 94799958 | 94799958 | Human | | name |
| 407494624 | CV3456833 | single nucleotide variant | NM_016201.4(AMOTL2):c.86G>A (p.Arg29His) | not specified [RCV004643036] | uncertain significance | 3 | 134371348 | 134371348 | Human | | name |
| 597795074 | CV3695821 | single nucleotide variant | NM_130847.3(AMOTL1):c.38C>T (p.Pro13Leu) | not specified [RCV004934726] | uncertain significance | 11 | 94768549 | 94768549 | Human | | name |
| 597624833 | CV3695926 | single nucleotide variant | NM_016201.4(AMOTL2):c.29C>T (p.Thr10Ile) | not specified [RCV004937854] | uncertain significance | 3 | 134371405 | 134371405 | Human | | name |
| 598171053 | CV3972690 | single nucleotide variant | NM_016201.4(AMOTL2):c.40C>T (p.Arg14Cys) | not specified [RCV005370495] | uncertain significance | 3 | 134371394 | 134371394 | Human | | name |
| 598171124 | CV3972717 | single nucleotide variant | NM_016201.4(AMOTL2):c.88A>G (p.Thr30Ala) | not specified [RCV005370513] | uncertain significance | 3 | 134371346 | 134371346 | Human | | name |
| 15150447 | CV738368 | single nucleotide variant | NM_130847.3(AMOTL1):c.714T>C (p.Arg238=) | not provided [RCV000901155] | benign | 11 | 94799904 | 94799904 | Human | | name |
| 15150453 | CV738369 | single nucleotide variant | NM_130847.3(AMOTL1):c.840C>T (p.Pro280=) | not provided [RCV000901156] | benign | 11 | 94800030 | 94800030 | Human | | name |
| 156274379 | CV2202606 | single nucleotide variant | NM_130847.3(AMOTL1):c.278C>G (p.Ala93Gly) | not specified [RCV004082864] | uncertain significance | 11 | 94799468 | 94799468 | Human | | name |
| 156005520 | CV2290354 | single nucleotide variant | NM_130847.3(AMOTL1):c.265G>A (p.Gly89Ser) | not specified [RCV004154782] | uncertain significance | 11 | 94799455 | 94799455 | Human | | name |
| 156224435 | CV2395164 | single nucleotide variant | NM_130847.3(AMOTL1):c.164C>A (p.Thr55Lys) | not specified [RCV004236837] | uncertain significance | 11 | 94795125 | 94795125 | Human | | name |
| 401743143 | CV2677778 | single nucleotide variant | NM_016201.4(AMOTL2):c.242G>T (p.Gly81Val) | not specified [RCV004291850] | uncertain significance | 3 | 134371192 | 134371192 | Human | | name |
| 401759812 | CV2701732 | single nucleotide variant | NM_130847.3(AMOTL1):c.290C>T (p.Thr97Ile) | not specified [RCV004314137] | uncertain significance | 11 | 94799480 | 94799480 | Human | | name |
| 405817110 | CV3272874 | single nucleotide variant | NM_130847.3(AMOTL1):c.164C>T (p.Thr55Met) | not specified [RCV004412119] | uncertain significance | 11 | 94795125 | 94795125 | Human | | name |
| 597624889 | CV3692518 | single nucleotide variant | NM_016201.4(AMOTL2):c.231G>C (p.Gln77His) | not specified [RCV004937934] | uncertain significance | 3 | 134371203 | 134371203 | Human | | name |
| 597795031 | CV3695714 | single nucleotide variant | NM_130847.3(AMOTL1):c.277G>T (p.Ala93Ser) | not specified [RCV004934711] | uncertain significance | 11 | 94799467 | 94799467 | Human | | name |
| 597624811 | CV3695899 | single nucleotide variant | NM_016201.4(AMOTL2):c.205G>A (p.Ala69Thr) | not specified [RCV004937832] | uncertain significance | 3 | 134371229 | 134371229 | Human | | name |
| 15102021 | CV702039 | single nucleotide variant | NM_130847.3(AMOTL1):c.1956T>C (p.Asn652=) | not provided [RCV000959210] | benign | 11 | 94859536 | 94859536 | Human | | name |
| 15102112 | CV702040 | single nucleotide variant | NM_130847.3(AMOTL1):c.2811C>G (p.Val937=) | not provided [RCV000959227] | benign | 11 | 94870735 | 94870735 | Human | | name |
| 15172381 | CV708595 | single nucleotide variant | NM_016201.4(AMOTL2):c.1362T>C (p.Arg454=) | not provided [RCV000972392] | benign | 3 | 134361725 | 134361725 | Human | | name |
| 15109056 | CV724813 | single nucleotide variant | NM_130847.3(AMOTL1):c.2583G>A (p.Thr861=) | not provided [RCV000893791] | benign | 11 | 94869292 | 94869292 | Human | | name |
| 15150458 | CV738370 | single nucleotide variant | NM_130847.3(AMOTL1):c.1755G>A (p.Leu585=) | not provided [RCV000901157] | benign | 11 | 94850220 | 94850220 | Human | | name |
| 156378670 | CV2207778 | single nucleotide variant | NM_016201.4(AMOTL2):c.851C>T (p.Pro284Leu) | not specified [RCV004084215] | uncertain significance | 3 | 134367687 | 134367687 | Human | | name |
| 156094619 | CV2213423 | single nucleotide variant | NM_016201.4(AMOTL2):c.625C>A (p.Pro209Thr) | not specified [RCV004087402] | uncertain significance | 3 | 134370809 | 134370809 | Human | | name |
| 156045786 | CV2216033 | single nucleotide variant | NM_130847.3(AMOTL1):c.640G>A (p.Val214Met) | not specified [RCV004097075] | uncertain significance | 11 | 94799830 | 94799830 | Human | | name |
| 156064757 | CV2229034 | single nucleotide variant | NM_016201.4(AMOTL2):c.353C>G (p.Ala118Gly) | not specified [RCV004098817] | uncertain significance | 3 | 134371081 | 134371081 | Human | | name |
| 155943718 | CV2241727 | single nucleotide variant | NM_016201.4(AMOTL2):c.859T>A (p.Ser287Thr) | not specified [RCV004106670] | uncertain significance | 3 | 134367679 | 134367679 | Human | | name |
| 156302183 | CV2241728 | single nucleotide variant | NM_016201.4(AMOTL2):c.860C>A (p.Ser287Tyr) | not specified [RCV004106671] | uncertain significance | 3 | 134367678 | 134367678 | Human | | name |
| 156233645 | CV2245276 | single nucleotide variant | NM_130847.3(AMOTL1):c.323G>A (p.Arg108Gln) | not specified [RCV004107040] | uncertain significance | 11 | 94799513 | 94799513 | Human | | name |
| 156083138 | CV2249180 | single nucleotide variant | NM_016201.4(AMOTL2):c.988C>T (p.Arg330Trp) | not specified [RCV004118227] | uncertain significance | 3 | 134367550 | 134367550 | Human | | name |
| 156084918 | CV2249293 | single nucleotide variant | NM_130847.3(AMOTL1):c.383G>A (p.Ser128Asn) | not specified [RCV004118319] | uncertain significance | 11 | 94799573 | 94799573 | Human | | name |
| 156177322 | CV2301229 | single nucleotide variant | NM_016201.4(AMOTL2):c.482G>A (p.Arg161Gln) | not specified [RCV004160133] | uncertain significance | 3 | 134370952 | 134370952 | Human | | name |
| 156018049 | CV2302717 | single nucleotide variant | NM_130847.3(AMOTL1):c.340G>A (p.Glu114Lys) | not specified [RCV004162648] | uncertain significance | 11 | 94799530 | 94799530 | Human | | name |
| 156107845 | CV2304062 | single nucleotide variant | NM_016201.4(AMOTL2):c.374G>A (p.Arg125Gln) | not specified [RCV004170108] | uncertain significance | 3 | 134371060 | 134371060 | Human | | name |
| 156209828 | CV2304589 | single nucleotide variant | NM_130847.3(AMOTL1):c.337A>G (p.Thr113Ala) | not specified [RCV004166484] | uncertain significance | 11 | 94799527 | 94799527 | Human | | name |
| 156177197 | CV2317226 | single nucleotide variant | NM_130847.3(AMOTL1):c.731C>A (p.Ala244Glu) | not specified [RCV004178725] | uncertain significance | 11 | 94799921 | 94799921 | Human | | name |
| 156062322 | CV2323237 | single nucleotide variant | NM_016201.4(AMOTL2):c.521C>T (p.Ala174Val) | not specified [RCV004187626] | uncertain significance | 3 | 134370913 | 134370913 | Human | | name |
| 155900784 | CV2345674 | single nucleotide variant | NM_016201.4(AMOTL2):c.388G>T (p.Asp130Tyr) | not specified [RCV004205617] | uncertain significance | 3 | 134371046 | 134371046 | Human | | name |
| 156247593 | CV2357070 | single nucleotide variant | NM_016201.4(AMOTL2):c.949G>A (p.Val317Met) | not specified [RCV004206871] | uncertain significance | 3 | 134367589 | 134367589 | Human | | name |
| 156132036 | CV2365680 | single nucleotide variant | NM_016201.4(AMOTL2):c.841G>A (p.Gly281Ser) | not specified [RCV004214232] | likely benign | 3 | 134367697 | 134367697 | Human | | name |
| 156341572 | CV2368424 | single nucleotide variant | NM_016201.4(AMOTL2):c.565C>T (p.Arg189Cys) | not specified [RCV004219190] | uncertain significance | 3 | 134370869 | 134370869 | Human | | name |
| 156097029 | CV2375516 | single nucleotide variant | NM_016201.4(AMOTL2):c.688C>T (p.Arg230Trp) | not specified [RCV004226025] | uncertain significance | 3 | 134370746 | 134370746 | Human | | name |
| 156255000 | CV2397600 | single nucleotide variant | NM_016201.4(AMOTL2):c.983A>G (p.Asn328Ser) | not specified [RCV004237057] | uncertain significance | 3 | 134367555 | 134367555 | Human | | name |
| 243053837 | CV2416415 | single nucleotide variant | NM_130847.3(AMOTL1):c.470G>T (p.Arg157Leu) | not provided [RCV003149476] | uncertain significance | 11 | 94799660 | 94799660 | Human | | name |
| 329375275 | CV2468467 | single nucleotide variant | NM_016201.4(AMOTL2):c.559C>A (p.Leu187Met) | not specified [RCV004278051] | uncertain significance | 3 | 134370875 | 134370875 | Human | | name |
| 401746465 | CV2694862 | single nucleotide variant | NM_130847.3(AMOTL1):c.601T>C (p.Phe201Leu) | not specified [RCV004300936] | uncertain significance | 11 | 94799791 | 94799791 | Human | | name |
| 405175760 | CV2915615 | single nucleotide variant | NM_130847.3(AMOTL1):c.469C>T (p.Arg157Cys) | CRANIOFACIOCARDIOHEPATIC SYNDROME [RCV005409944]|not provided [RCV003563521] | pathogenic | 11 | 94799659 | 94799659 | Human | 1 | name |
| 405817382 | CV3269288 | single nucleotide variant | NM_016201.4(AMOTL2):c.611C>T (p.Pro204Leu) | not specified [RCV004412368] | uncertain significance | 3 | 134370823 | 134370823 | Human | | name |
| 405817392 | CV3269298 | single nucleotide variant | NM_016201.4(AMOTL2):c.638A>G (p.Tyr213Cys) | not specified [RCV004412378] | uncertain significance | 3 | 134370796 | 134370796 | Human | | name |
| 405817221 | CV3272985 | single nucleotide variant | NM_130847.3(AMOTL1):c.617A>G (p.Gln206Arg) | not specified [RCV004412230] | uncertain significance | 11 | 94799807 | 94799807 | Human | | name |
| 405817235 | CV3272999 | single nucleotide variant | NM_130847.3(AMOTL1):c.845C>T (p.Ser282Leu) | not specified [RCV004412244] | uncertain significance | 11 | 94800035 | 94800035 | Human | | name |
| 405817241 | CV3273005 | single nucleotide variant | NM_130847.3(AMOTL1):c.991G>A (p.Gly331Arg) | not specified [RCV004412250] | uncertain significance | 11 | 94800181 | 94800181 | Human | | name |
| 407494318 | CV3446653 | single nucleotide variant | NM_130847.3(AMOTL1):c.713G>A (p.Arg238His) | not specified [RCV004642964] | uncertain significance | 11 | 94799903 | 94799903 | Human | | name |
| 407494534 | CV3456806 | single nucleotide variant | NM_016201.4(AMOTL2):c.373C>T (p.Arg125Trp) | not specified [RCV004643013] | uncertain significance | 3 | 134371061 | 134371061 | Human | | name |
| 407469211 | CV3456843 | single nucleotide variant | NM_016201.4(AMOTL2):c.700C>A (p.Arg234Ser) | not specified [RCV004636548] | uncertain significance | 3 | 134370734 | 134370734 | Human | | name |
| 407494709 | CV3456853 | single nucleotide variant | NM_016201.4(AMOTL2):c.502G>A (p.Glu168Lys) | not specified [RCV004643053] | uncertain significance | 3 | 134370932 | 134370932 | Human | | name |
| 597624696 | CV3695735 | single nucleotide variant | NM_130847.3(AMOTL1):c.926C>T (p.Pro309Leu) | not specified [RCV004937717] | uncertain significance | 11 | 94800116 | 94800116 | Human | | name |
| 597624825 | CV3695915 | single nucleotide variant | NM_016201.4(AMOTL2):c.617C>T (p.Ser206Phe) | not specified [RCV004937846] | uncertain significance | 3 | 134370817 | 134370817 | Human | | name |
| 597624877 | CV3695990 | single nucleotide variant | NM_016201.4(AMOTL2):c.828T>G (p.His276Gln) | not specified [RCV004937904] | uncertain significance | 3 | 134367710 | 134367710 | Human | | name |
| 597795104 | CV3696000 | single nucleotide variant | NM_016201.4(AMOTL2):c.367G>A (p.Gly123Arg) | not specified [RCV004934760] | uncertain significance | 3 | 134371067 | 134371067 | Human | | name |
| 597624873 | CV3696009 | single nucleotide variant | NM_016201.4(AMOTL2):c.811C>T (p.His271Tyr) | not specified [RCV004937918] | uncertain significance | 3 | 134367727 | 134367727 | Human | | name |
| 598195673 | CV3972670 | single nucleotide variant | NM_016201.4(AMOTL2):c.599C>T (p.Pro200Leu) | not specified [RCV005355038] | uncertain significance | 3 | 134370835 | 134370835 | Human | | name |
| 598171092 | CV3972707 | single nucleotide variant | NM_016201.4(AMOTL2):c.724G>A (p.Ala242Thr) | not specified [RCV005370505] | uncertain significance | 3 | 134370710 | 134370710 | Human | | name |
| 598211327 | CV3972733 | single nucleotide variant | NM_016201.4(AMOTL2):c.463G>A (p.Val155Met) | not specified [RCV005358663] | uncertain significance | 3 | 134370971 | 134370971 | Human | | name |
| 598171217 | CV3972759 | single nucleotide variant | NM_016201.4(AMOTL2):c.364G>A (p.Ala122Thr) | not specified [RCV005370536] | uncertain significance | 3 | 134371070 | 134371070 | Human | | name |
| 598171229 | CV3972769 | single nucleotide variant | NM_016201.4(AMOTL2):c.701G>A (p.Arg234His) | not specified [RCV005370539] | uncertain significance | 3 | 134370733 | 134370733 | Human | | name |
| 616938693 | CV4013395 | single nucleotide variant | NM_130847.3(AMOTL1):c.470G>A (p.Arg157His) | CRANIOFACIOCARDIOHEPATIC SYNDROME [RCV005410859] | pathogenic | 11 | 94799660 | 94799660 | Human | 1 | name |
| 616938130 | CV4013396 | single nucleotide variant | NM_130847.3(AMOTL1):c.428A>G (p.Asn143Ser) | CRANIOFACIOCARDIOHEPATIC SYNDROME [RCV005410860] | pathogenic | 11 | 94799618 | 94799618 | Human | 1 | name |
| 15186174 | CV697852 | single nucleotide variant | NM_016201.4(AMOTL2):c.518G>A (p.Arg173Gln) | not provided [RCV000953204] | benign | 3 | 134370916 | 134370916 | Human | | name |
| 39457041 | CV917804 | single nucleotide variant | NM_130847.3(AMOTL1):c.479C>T (p.Pro160Leu) | CRANIOFACIOCARDIOHEPATIC SYNDROME [RCV005409783]|Hypertelorism [RCV001254927]|not provided [RCV001863069]|not specified [RCV004935189] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 11 | 94799669 | 94799669 | Human | 7 | name |
| 156081391 | CV2195410 | single nucleotide variant | NM_130847.3(AMOTL1):c.1262C>T (p.Pro421Leu) | not specified [RCV004080321] | uncertain significance | 11 | 94821670 | 94821670 | Human | | name |
| 155962964 | CV2197696 | single nucleotide variant | NM_016201.4(AMOTL2):c.1640G>A (p.Arg547Gln) | not specified [RCV004074902] | uncertain significance | 3 | 134360349 | 134360349 | Human | | name |
| 156225238 | CV2203032 | single nucleotide variant | NM_016201.4(AMOTL2):c.1658G>A (p.Arg553Gln) | not specified [RCV004069284] | uncertain significance | 3 | 134360331 | 134360331 | Human | | name |
| 156370879 | CV2204359 | single nucleotide variant | NM_016201.4(AMOTL2):c.1633G>T (p.Ala545Ser) | not specified [RCV004079180] | uncertain significance | 3 | 134360356 | 134360356 | Human | | name |
| 155918726 | CV2206070 | single nucleotide variant | NM_130847.3(AMOTL1):c.1703G>A (p.Arg568Gln) | not specified [RCV004078481] | uncertain significance | 11 | 94850168 | 94850168 | Human | | name |
| 156328411 | CV2213609 | single nucleotide variant | NM_130847.3(AMOTL1):c.2411A>G (p.His804Arg) | not specified [RCV004089695] | uncertain significance | 11 | 94866091 | 94866091 | Human | | name |
| 156380500 | CV2218783 | single nucleotide variant | NM_016201.4(AMOTL2):c.1301A>T (p.Gln434Leu) | not specified [RCV004085031] | uncertain significance | 3 | 134361786 | 134361786 | Human | | name |
| 156336825 | CV2228596 | single nucleotide variant | NM_130847.3(AMOTL1):c.2825A>G (p.His942Arg) | not specified [RCV004092825] | uncertain significance | 11 | 94870749 | 94870749 | Human | | name |
| 156126608 | CV2234420 | single nucleotide variant | NM_130847.3(AMOTL1):c.1780A>C (p.Lys594Gln) | not specified [RCV004100634] | uncertain significance | 11 | 94850245 | 94850245 | Human | | name |
| 156236772 | CV2235603 | single nucleotide variant | NM_016201.4(AMOTL2):c.1061G>A (p.Arg354Gln) | not specified [RCV004111758] | uncertain significance | 3 | 134366408 | 134366408 | Human | | name |
| 156270494 | CV2236982 | single nucleotide variant | NM_130847.3(AMOTL1):c.2125G>A (p.Ala709Thr) | not specified [RCV004112975] | uncertain significance | 11 | 94859705 | 94859705 | Human | | name |
| 155942957 | CV2244849 | single nucleotide variant | NM_016201.4(AMOTL2):c.1303G>A (p.Glu435Lys) | not specified [RCV004104609] | uncertain significance | 3 | 134361784 | 134361784 | Human | | name |
| 156162219 | CV2246496 | single nucleotide variant | NM_016201.4(AMOTL2):c.1316G>A (p.Arg439Gln) | not specified [RCV004110254] | uncertain significance | 3 | 134361771 | 134361771 | Human | | name |
| 156213599 | CV2257389 | single nucleotide variant | NM_130847.3(AMOTL1):c.1118C>T (p.Thr373Met) | not specified [RCV004125476] | uncertain significance | 11 | 94800308 | 94800308 | Human | | name |
| 156111973 | CV2261820 | single nucleotide variant | NM_016201.4(AMOTL2):c.1106G>A (p.Arg369His) | not provided [RCV004695460]|not specified [RCV004126093] | uncertain significance | 3 | 134366363 | 134366363 | Human | | name |
| 156256075 | CV2277557 | single nucleotide variant | NM_016201.4(AMOTL2):c.2204C>A (p.Pro735Gln) | not specified [RCV004145243] | uncertain significance | 3 | 134358620 | 134358620 | Human | | name |
| 156041224 | CV2279182 | single nucleotide variant | NM_130847.3(AMOTL1):c.2392G>A (p.Ala798Thr) | not specified [RCV004139416] | uncertain significance | 11 | 94866072 | 94866072 | Human | | name |
| 156074008 | CV2281410 | single nucleotide variant | NM_016201.4(AMOTL2):c.1765A>G (p.Thr589Ala) | not specified [RCV004153746] | uncertain significance | 3 | 134360224 | 134360224 | Human | | name |
| 156075797 | CV2281544 | single nucleotide variant | NM_016201.4(AMOTL2):c.1412G>A (p.Arg471Gln) | not specified [RCV004153854] | uncertain significance | 3 | 134361675 | 134361675 | Human | | name |
| 156239673 | CV2285986 | single nucleotide variant | NM_016201.4(AMOTL2):c.2110A>G (p.Arg704Gly) | not specified [RCV004143898] | uncertain significance | 3 | 134358714 | 134358714 | Human | | name |
| 156283730 | CV2288926 | single nucleotide variant | NM_016201.4(AMOTL2):c.1417G>C (p.Glu473Gln) | not specified [RCV004149895] | uncertain significance | 3 | 134361670 | 134361670 | Human | | name |
| 156089312 | CV2290784 | single nucleotide variant | NM_130847.3(AMOTL1):c.2391A>G (p.Ile797Met) | not specified [RCV004149291] | uncertain significance | 11 | 94866071 | 94866071 | Human | | name |
| 156290863 | CV2296562 | single nucleotide variant | NM_130847.3(AMOTL1):c.1478G>A (p.Arg493Gln) | not specified [RCV004154632] | uncertain significance | 11 | 94830114 | 94830114 | Human | | name |
| 156154029 | CV2303873 | single nucleotide variant | NM_016201.4(AMOTL2):c.1414G>T (p.Ala472Ser) | not specified [RCV004168161] | uncertain significance | 3 | 134361673 | 134361673 | Human | | name |
| 156248107 | CV2307108 | single nucleotide variant | NM_130847.3(AMOTL1):c.1190C>G (p.Ser397Cys) | not specified [RCV004159590] | uncertain significance | 11 | 94821598 | 94821598 | Human | | name |
| 156150142 | CV2307459 | single nucleotide variant | NM_016201.4(AMOTL2):c.1835A>G (p.Asn612Ser) | not specified [RCV004166122] | uncertain significance | 3 | 134360154 | 134360154 | Human | | name |
| 156064452 | CV2316137 | single nucleotide variant | NM_016201.4(AMOTL2):c.1122G>T (p.Lys374Asn) | not specified [RCV004174188] | uncertain significance | 3 | 134366347 | 134366347 | Human | | name |
| 155975807 | CV2341598 | single nucleotide variant | NM_016201.4(AMOTL2):c.2213C>T (p.Thr738Ile) | not specified [RCV004188982] | uncertain significance | 3 | 134358611 | 134358611 | Human | | name |
| 156241771 | CV2346947 | single nucleotide variant | NM_130847.3(AMOTL1):c.2713C>T (p.His905Tyr) | not specified [RCV004202394] | uncertain significance | 11 | 94869422 | 94869422 | Human | | name |
| 156068949 | CV2356954 | single nucleotide variant | NM_016201.4(AMOTL2):c.1403G>A (p.Arg468Gln) | not specified [RCV004204324] | uncertain significance | 3 | 134361684 | 134361684 | Human | | name |
| 155918348 | CV2362582 | single nucleotide variant | NM_130847.3(AMOTL1):c.1943A>G (p.Gln648Arg) | not specified [RCV004215237] | uncertain significance | 11 | 94854081 | 94854081 | Human | | name |
| 155925675 | CV2365625 | single nucleotide variant | NM_016201.4(AMOTL2):c.1803T>G (p.His601Gln) | not specified [RCV004214189] | uncertain significance | 3 | 134360186 | 134360186 | Human | | name |
| 156287305 | CV2370481 | single nucleotide variant | NM_016201.4(AMOTL2):c.1780C>T (p.Arg594Cys) | not specified [RCV004215829] | uncertain significance | 3 | 134360209 | 134360209 | Human | | name |
| 156288456 | CV2370657 | single nucleotide variant | NM_016201.4(AMOTL2):c.1366G>A (p.Glu456Lys) | not specified [RCV004209065] | uncertain significance | 3 | 134361721 | 134361721 | Human | | name |
| 155935508 | CV2371814 | single nucleotide variant | NM_130847.3(AMOTL1):c.1018G>A (p.Gly340Arg) | not specified [RCV004219469] | uncertain significance | 11 | 94800208 | 94800208 | Human | | name |
| 156266149 | CV2389138 | single nucleotide variant | NM_130847.3(AMOTL1):c.2417G>A (p.Arg806His) | not specified [RCV004235469] | uncertain significance | 11 | 94866097 | 94866097 | Human | | name |
| 156220383 | CV2393722 | single nucleotide variant | NM_016201.4(AMOTL2):c.1475C>T (p.Ala492Val) | not specified [RCV004231522] | uncertain significance | 3 | 134361612 | 134361612 | Human | | name |
| 156113212 | CV2397022 | single nucleotide variant | NM_016201.4(AMOTL2):c.1031G>A (p.Arg344His) | not specified [RCV004236539] | uncertain significance | 3 | 134367507 | 134367507 | Human | | name |
| 243051927 | CV2404218 | single nucleotide variant | NM_130847.3(AMOTL1):c.1523T>C (p.Ile508Thr) | not provided [RCV003129244] | uncertain significance | 11 | 94830159 | 94830159 | Human | | name |
| 329367336 | CV2427362 | single nucleotide variant | NM_016201.4(AMOTL2):c.1812G>C (p.Gln604His) | not specified [RCV004248218] | uncertain significance | 3 | 134360177 | 134360177 | Human | | name |
| 329366690 | CV2441816 | single nucleotide variant | NM_016201.4(AMOTL2):c.1951A>G (p.Arg651Gly) | not specified [RCV004262018] | uncertain significance | 3 | 134359436 | 134359436 | Human | | name |
| 329398230 | CV2464319 | single nucleotide variant | NM_130847.3(AMOTL1):c.2106G>T (p.Met702Ile) | not specified [RCV004276274] | uncertain significance | 11 | 94859686 | 94859686 | Human | | name |
| 401721313 | CV2673674 | single nucleotide variant | NM_130847.3(AMOTL1):c.1223C>T (p.Pro408Leu) | not specified [RCV004282405] | uncertain significance | 11 | 94821631 | 94821631 | Human | | name |
| 401730988 | CV2674222 | single nucleotide variant | NM_016201.4(AMOTL2):c.1730G>A (p.Arg577His) | not specified [RCV004289113] | uncertain significance | 3 | 134360259 | 134360259 | Human | | name |
| 401740868 | CV2680496 | single nucleotide variant | NM_016201.4(AMOTL2):c.1345G>A (p.Glu449Lys) | not specified [RCV004291137] | uncertain significance | 3 | 134361742 | 134361742 | Human | | name |
| 401727243 | CV2684529 | single nucleotide variant | NM_016201.4(AMOTL2):c.1637T>C (p.Leu546Pro) | not specified [RCV004291597] | uncertain significance | 3 | 134360352 | 134360352 | Human | | name |
| 401747554 | CV2688945 | single nucleotide variant | NM_130847.3(AMOTL1):c.2243G>T (p.Cys748Phe) | not specified [RCV004303946] | uncertain significance | 11 | 94864842 | 94864842 | Human | | name |
| 401769744 | CV2689917 | single nucleotide variant | NM_016201.4(AMOTL2):c.2141C>G (p.Ala714Gly) | not specified [RCV004297808] | uncertain significance | 3 | 134358683 | 134358683 | Human | | name |
| 401745043 | CV2693167 | single nucleotide variant | NM_130847.3(AMOTL1):c.1592G>T (p.Ser531Ile) | not specified [RCV004293100] | uncertain significance | 11 | 94831485 | 94831485 | Human | | name |
| 401749878 | CV2695861 | single nucleotide variant | NM_130847.3(AMOTL1):c.1208A>G (p.His403Arg) | not specified [RCV004308142] | uncertain significance | 11 | 94821616 | 94821616 | Human | | name |
| 401756859 | CV2696534 | single nucleotide variant | NM_130847.3(AMOTL1):c.1556G>A (p.Arg519Gln) | not specified [RCV004312600] | uncertain significance | 11 | 94830192 | 94830192 | Human | | name |
| 401725992 | CV2699011 | single nucleotide variant | NM_130847.3(AMOTL1):c.2096A>T (p.His699Leu) | not specified [RCV004303536] | uncertain significance | 11 | 94859676 | 94859676 | Human | | name |
| 401738135 | CV2700998 | single nucleotide variant | NM_130847.3(AMOTL1):c.1581G>C (p.Arg527Ser) | not specified [RCV004307252] | uncertain significance | 11 | 94831474 | 94831474 | Human | | name |
| 401717631 | CV2703937 | single nucleotide variant | NM_016201.4(AMOTL2):c.1133A>C (p.Asn378Thr) | not specified [RCV004308835] | uncertain significance | 3 | 134366336 | 134366336 | Human | | name |
| 401739383 | CV2708432 | single nucleotide variant | NM_130847.3(AMOTL1):c.2432C>T (p.Thr811Ile) | not specified [RCV004313534] | uncertain significance | 11 | 94866112 | 94866112 | Human | | name |
| 401762595 | CV2719990 | single nucleotide variant | NM_130847.3(AMOTL1):c.1162C>T (p.His388Tyr) | not specified [RCV004323573] | uncertain significance | 11 | 94821570 | 94821570 | Human | | name |
| 401725102 | CV2725702 | single nucleotide variant | NM_130847.3(AMOTL1):c.1029C>A (p.His343Gln) | not specified [RCV004322399] | uncertain significance | 11 | 94800219 | 94800219 | Human | | name |
| 401779158 | CV2733176 | single nucleotide variant | NM_016201.4(AMOTL2):c.1185A>C (p.Arg395Ser) | not specified [RCV004332101] | uncertain significance | 3 | 134366284 | 134366284 | Human | | name |
| 401899071 | CV2786002 | single nucleotide variant | NM_130847.3(AMOTL1):c.2336A>T (p.Asp779Val) | not specified [RCV004359839] | uncertain significance | 11 | 94866016 | 94866016 | Human | | name |
| 401888119 | CV2791259 | single nucleotide variant | NM_016201.4(AMOTL2):c.1258G>A (p.Val420Met) | not specified [RCV004356891] | uncertain significance | 3 | 134365838 | 134365838 | Human | | name |
| 405817313 | CV3269219 | single nucleotide variant | NM_016201.4(AMOTL2):c.1429C>T (p.Arg477Cys) | not specified [RCV004412298] | uncertain significance | 3 | 134361658 | 134361658 | Human | | name |
| 405817325 | CV3269231 | single nucleotide variant | NM_016201.4(AMOTL2):c.1657C>G (p.Arg553Gly) | not specified [RCV004412310] | uncertain significance | 3 | 134360332 | 134360332 | Human | | name |
| 405817338 | CV3269244 | single nucleotide variant | NM_016201.4(AMOTL2):c.1820C>T (p.Pro607Leu) | not specified [RCV004412323] | uncertain significance | 3 | 134360169 | 134360169 | Human | | name |
| 405817344 | CV3269250 | single nucleotide variant | NM_016201.4(AMOTL2):c.1969G>T (p.Ala657Ser) | not specified [RCV004412329] | uncertain significance | 3 | 134359418 | 134359418 | Human | | name |
| 405817353 | CV3269259 | single nucleotide variant | NM_016201.4(AMOTL2):c.2192C>T (p.Thr731Ile) | not specified [RCV004412338] | uncertain significance | 3 | 134358632 | 134358632 | Human | | name |
| 405817076 | CV3272840 | single nucleotide variant | NM_130847.3(AMOTL1):c.1150A>G (p.Thr384Ala) | not specified [RCV004412085] | uncertain significance | 11 | 94821558 | 94821558 | Human | | name |
| 405817116 | CV3272880 | single nucleotide variant | NM_130847.3(AMOTL1):c.1777A>T (p.Ile593Phe) | not specified [RCV004412125] | uncertain significance | 11 | 94850242 | 94850242 | Human | | name |
| 405817121 | CV3272885 | single nucleotide variant | NM_130847.3(AMOTL1):c.1861T>G (p.Ser621Ala) | not specified [RCV004412130] | uncertain significance | 11 | 94853999 | 94853999 | Human | | name |
| 405817153 | CV3272893 | single nucleotide variant | NM_130847.3(AMOTL1):c.1963C>G (p.Pro655Ala) | not specified [RCV004412138] | uncertain significance | 11 | 94859543 | 94859543 | Human | | name |
| 405817158 | CV3272898 | single nucleotide variant | NM_130847.3(AMOTL1):c.1973T>C (p.Met658Thr) | not specified [RCV004412143] | uncertain significance | 11 | 94859553 | 94859553 | Human | | name |
| 405817162 | CV3272902 | single nucleotide variant | NM_130847.3(AMOTL1):c.2011C>T (p.Arg671Trp) | not specified [RCV004412147] | uncertain significance | 11 | 94859591 | 94859591 | Human | | name |
| 405817173 | CV3272913 | single nucleotide variant | NM_130847.3(AMOTL1):c.2257T>C (p.Tyr753His) | not specified [RCV004412158] | uncertain significance | 11 | 94864856 | 94864856 | Human | | name |
| 405817176 | CV3272916 | single nucleotide variant | NM_130847.3(AMOTL1):c.2285T>A (p.Ile762Asn) | not specified [RCV004412161] | uncertain significance | 11 | 94865965 | 94865965 | Human | | name |
| 405817203 | CV3272943 | single nucleotide variant | NM_130847.3(AMOTL1):c.2542C>T (p.Pro848Ser) | not specified [RCV004412188] | uncertain significance | 11 | 94869251 | 94869251 | Human | | name |
| 405817207 | CV3272947 | single nucleotide variant | NM_130847.3(AMOTL1):c.2671G>T (p.Ala891Ser) | not specified [RCV004412192] | uncertain significance | 11 | 94869380 | 94869380 | Human | | name |
| 405817273 | CV3272949 | single nucleotide variant | NM_130847.3(AMOTL1):c.2672C>T (p.Ala891Val) | not specified [RCV004412194] | uncertain significance | 11 | 94869381 | 94869381 | Human | | name |
| 405817272 | CV3272950 | single nucleotide variant | NM_130847.3(AMOTL1):c.2692C>T (p.Arg898Trp) | not specified [RCV004412195] | uncertain significance | 11 | 94869401 | 94869401 | Human | | name |
| 405817268 | CV3272954 | single nucleotide variant | NM_130847.3(AMOTL1):c.2738C>T (p.Ala913Val) | not specified [RCV004412199] | uncertain significance | 11 | 94869447 | 94869447 | Human | | name |
| 405817261 | CV3272961 | single nucleotide variant | NM_130847.3(AMOTL1):c.2833G>A (p.Glu945Lys) | not specified [RCV004412206] | uncertain significance | 11 | 94870757 | 94870757 | Human | | name |
| 405817258 | CV3272964 | single nucleotide variant | NM_130847.3(AMOTL1):c.2839C>T (p.Pro947Ser) | not specified [RCV004412209] | uncertain significance | 11 | 94870763 | 94870763 | Human | | name |
| 405817291 | CV3273031 | single nucleotide variant | NM_016201.4(AMOTL2):c.1333C>G (p.Arg445Gly) | not specified [RCV004412276] | uncertain significance | 3 | 134361754 | 134361754 | Human | | name |
| 407494204 | CV3446620 | single nucleotide variant | NM_130847.3(AMOTL1):c.2686C>T (p.Arg896Cys) | not specified [RCV004642937] | uncertain significance | 11 | 94869395 | 94869395 | Human | | name |
| 407494241 | CV3446631 | single nucleotide variant | NM_130847.3(AMOTL1):c.1484C>T (p.Ser495Leu) | not specified [RCV004642946] | uncertain significance | 11 | 94830120 | 94830120 | Human | | name |
| 407494278 | CV3446642 | single nucleotide variant | NM_130847.3(AMOTL1):c.2161C>T (p.Arg721Trp) | not specified [RCV004642955] | uncertain significance | 11 | 94864760 | 94864760 | Human | | name |
| 407469151 | CV3446664 | single nucleotide variant | NM_130847.3(AMOTL1):c.1042C>A (p.Pro348Thr) | not specified [RCV004636528] | uncertain significance | 11 | 94800232 | 94800232 | Human | | name |
| 407494392 | CV3456762 | single nucleotide variant | NM_130847.3(AMOTL1):c.1301C>G (p.Ala434Gly) | not specified [RCV004642982] | uncertain significance | 11 | 94821709 | 94821709 | Human | | name |
| 407469172 | CV3456774 | single nucleotide variant | NM_130847.3(AMOTL1):c.2361C>A (p.Ser787Arg) | not specified [RCV004636535] | uncertain significance | 11 | 94866041 | 94866041 | Human | | name |
| 407494473 | CV3456784 | single nucleotide variant | NM_130847.3(AMOTL1):c.2392G>T (p.Ala798Ser) | not specified [RCV004642999] | uncertain significance | 11 | 94866072 | 94866072 | Human | | name |
| 407469190 | CV3456795 | single nucleotide variant | NM_130847.3(AMOTL1):c.2738C>A (p.Ala913Glu) | not specified [RCV004636541] | uncertain significance | 11 | 94869447 | 94869447 | Human | | name |
| 407494561 | CV3456816 | single nucleotide variant | NM_016201.4(AMOTL2):c.1130G>A (p.Arg377Gln) | not specified [RCV004643020] | uncertain significance | 3 | 134366339 | 134366339 | Human | | name |
| 407494591 | CV3456825 | single nucleotide variant | NM_016201.4(AMOTL2):c.1207C>A (p.Arg403Ser) | not specified [RCV004643028] | uncertain significance | 3 | 134365889 | 134365889 | Human | | name |
| 596931100 | CV3529943 | single nucleotide variant | NM_130847.3(AMOTL1):c.1561C>T (p.Arg521Ter) | not provided [RCV004780993] | uncertain significance | 11 | 94831454 | 94831454 | Human | | name |
| 596926696 | CV3530873 | single nucleotide variant | NM_130847.3(AMOTL1):c.1570A>G (p.Thr524Ala) | not provided [RCV004778458] | uncertain significance | 11 | 94831463 | 94831463 | Human | | name |
| 596930027 | CV3531310 | single nucleotide variant | NM_130847.3(AMOTL1):c.2863C>T (p.Leu955Phe) | not provided [RCV004779884] | uncertain significance | 11 | 94870787 | 94870787 | Human | | name |
| 597624879 | CV3692506 | single nucleotide variant | NM_016201.4(AMOTL2):c.2002G>T (p.Val668Leu) | not specified [RCV004937924] | uncertain significance | 3 | 134359385 | 134359385 | Human | | name |
| 597795014 | CV3695674 | single nucleotide variant | NM_130847.3(AMOTL1):c.1774G>A (p.Val592Ile) | not specified [RCV004934705] | uncertain significance | 11 | 94850239 | 94850239 | Human | | name |
| 597624661 | CV3695693 | single nucleotide variant | NM_130847.3(AMOTL1):c.1422A>C (p.Lys474Asn) | not specified [RCV004937682] | uncertain significance | 11 | 94830058 | 94830058 | Human | | name |
| 597624670 | CV3695704 | single nucleotide variant | NM_130847.3(AMOTL1):c.1399G>A (p.Asp467Asn) | not specified [RCV004937691] | uncertain significance | 11 | 94821807 | 94821807 | Human | | name |
| 597624687 | CV3695724 | single nucleotide variant | NM_130847.3(AMOTL1):c.2563T>C (p.Ser855Pro) | not specified [RCV004937708] | uncertain significance | 11 | 94869272 | 94869272 | Human | | name |
| 597624706 | CV3695746 | single nucleotide variant | NM_130847.3(AMOTL1):c.2310G>T (p.Lys770Asn) | not specified [RCV004937727] | uncertain significance | 11 | 94865990 | 94865990 | Human | | name |
| 597624711 | CV3695753 | single nucleotide variant | NM_130847.3(AMOTL1):c.1034T>C (p.Met345Thr) | not specified [RCV004937732] | uncertain significance | 11 | 94800224 | 94800224 | Human | | name |
| 597795046 | CV3695762 | single nucleotide variant | NM_130847.3(AMOTL1):c.1088G>C (p.Arg363Pro) | not specified [RCV004934716] | uncertain significance | 11 | 94800278 | 94800278 | Human | | name |
| 597795054 | CV3695771 | single nucleotide variant | NM_130847.3(AMOTL1):c.2416C>T (p.Arg806Cys) | not specified [RCV004934719] | uncertain significance | 11 | 94866096 | 94866096 | Human | | name |
| 597624732 | CV3695781 | single nucleotide variant | NM_130847.3(AMOTL1):c.2560C>G (p.Leu854Val) | not specified [RCV004937753] | uncertain significance | 11 | 94869269 | 94869269 | Human | | name |
| 597624733 | CV3695791 | single nucleotide variant | NM_130847.3(AMOTL1):c.1184C>T (p.Thr395Ile) | not specified [RCV004937754] | uncertain significance | 11 | 94821592 | 94821592 | Human | | name |
| 597624734 | CV3695800 | single nucleotide variant | NM_130847.3(AMOTL1):c.1459G>A (p.Val487Ile) | not specified [RCV004937755] | uncertain significance | 11 | 94830095 | 94830095 | Human | | name |
| 597624795 | CV3695810 | single nucleotide variant | NM_130847.3(AMOTL1):c.1787A>C (p.Glu596Ala) | not specified [RCV004937762] | uncertain significance | 11 | 94850252 | 94850252 | Human | | name |
| 597624781 | CV3695831 | single nucleotide variant | NM_016201.4(AMOTL2):c.1799G>A (p.Arg600Gln) | not specified [RCV004937776] | uncertain significance | 3 | 134360190 | 134360190 | Human | | name |
| 597624743 | CV3695850 | single nucleotide variant | NM_016201.4(AMOTL2):c.1357C>G (p.Arg453Gly) | not specified [RCV004937788] | uncertain significance | 3 | 134361730 | 134361730 | Human | | name |
| 597624801 | CV3695889 | single nucleotide variant | NM_016201.4(AMOTL2):c.1839G>C (p.Glu613Asp) | not specified [RCV004937822] | uncertain significance | 3 | 134360150 | 134360150 | Human | | name |
| 597624840 | CV3695936 | single nucleotide variant | NM_016201.4(AMOTL2):c.2128C>T (p.Pro710Ser) | not specified [RCV004937861] | uncertain significance | 3 | 134358696 | 134358696 | Human | | name |
| 597624848 | CV3695944 | single nucleotide variant | NM_016201.4(AMOTL2):c.1016C>T (p.Ala339Val) | not specified [RCV004937869] | uncertain significance | 3 | 134367522 | 134367522 | Human | | name |
| 597624948 | CV3695980 | single nucleotide variant | NM_016201.4(AMOTL2):c.1358G>A (p.Arg453Gln) | not specified [RCV004937895] | uncertain significance | 3 | 134361729 | 134361729 | Human | | name |
| 598233301 | CV3893352 | single nucleotide variant | NM_130847.3(AMOTL1):c.1913A>G (p.Glu638Gly) | not provided [RCV005256085] | uncertain significance | 11 | 94854051 | 94854051 | Human | | name |
| 598211243 | CV3972592 | single nucleotide variant | NM_130847.3(AMOTL1):c.2483G>A (p.Ser828Asn) | not specified [RCV005358650] | uncertain significance | 11 | 94866163 | 94866163 | Human | | name |
| 598195548 | CV3972604 | single nucleotide variant | NM_130847.3(AMOTL1):c.2807G>A (p.Arg936Gln) | not specified [RCV005355011] | uncertain significance | 11 | 94870731 | 94870731 | Human | | name |
| 598195573 | CV3972614 | single nucleotide variant | NM_130847.3(AMOTL1):c.2816G>A (p.Ser939Asn) | not specified [RCV005355016] | uncertain significance | 11 | 94870740 | 94870740 | Human | | name |
| 598170929 | CV3972624 | single nucleotide variant | NM_130847.3(AMOTL1):c.2120C>T (p.Thr707Ile) | not specified [RCV005370463] | uncertain significance | 11 | 94859700 | 94859700 | Human | | name |
| 598170949 | CV3972634 | single nucleotide variant | NM_130847.3(AMOTL1):c.2075T>C (p.Leu692Pro) | not specified [RCV005370469] | uncertain significance | 11 | 94859655 | 94859655 | Human | | name |
| 598170968 | CV3972643 | single nucleotide variant | NM_130847.3(AMOTL1):c.2311G>T (p.Val771Phe) | not specified [RCV005370474] | uncertain significance | 11 | 94865991 | 94865991 | Human | | name |
| 598195638 | CV3972652 | single nucleotide variant | NM_130847.3(AMOTL1):c.1496C>G (p.Ala499Gly) | not specified [RCV005355030] | uncertain significance | 11 | 94830132 | 94830132 | Human | | name |
| 598171015 | CV3972663 | single nucleotide variant | NM_016201.4(AMOTL2):c.1336G>A (p.Gly446Ser) | not specified [RCV005370485] | uncertain significance | 3 | 134361751 | 134361751 | Human | | name |
| 598195705 | CV3972680 | single nucleotide variant | NM_016201.4(AMOTL2):c.1174C>T (p.Arg392Trp) | not specified [RCV005355046] | uncertain significance | 3 | 134366295 | 134366295 | Human | | name |
| 598195743 | CV3972697 | single nucleotide variant | NM_016201.4(AMOTL2):c.1943A>G (p.Gln648Arg) | not specified [RCV005355053] | uncertain significance | 3 | 134359444 | 134359444 | Human | | name |
| 598195776 | CV3972728 | single nucleotide variant | NM_016201.4(AMOTL2):c.1538G>A (p.Arg513His) | not specified [RCV005355060] | uncertain significance | 3 | 134361549 | 134361549 | Human | | name |
| 598171180 | CV3972742 | single nucleotide variant | NM_016201.4(AMOTL2):c.1559C>A (p.Ala520Asp) | not specified [RCV005370527] | uncertain significance | 3 | 134361528 | 134361528 | Human | | name |
| 598195824 | CV3972751 | single nucleotide variant | NM_016201.4(AMOTL2):c.1303G>C (p.Glu435Gln) | not specified [RCV005355069] | uncertain significance | 3 | 134361784 | 134361784 | Human | | name |
| 616938132 | CV4013397 | single nucleotide variant | NM_130847.3(AMOTL1):c.1735G>A (p.Glu579Lys) | CRANIOFACIOCARDIOHEPATIC SYNDROME [RCV005410861] | pathogenic | 11 | 94850200 | 94850200 | Human | 1 | name |
| 15156803 | CV697851 | single nucleotide variant | NM_016201.4(AMOTL2):c.1559C>T (p.Ala520Val) | not provided [RCV000946767] | benign | 3 | 134361528 | 134361528 | Human | | name |
| 401912600 | CV2824947 | deletion | NM_016201.4(AMOTL2):c.1663_1665del (p.Lys555del) | not provided [RCV003427396] | uncertain significance | 3 | 134360324 | 134360326 | Human | | name |