| 15196806 | CV777617 | single nucleotide variant | NM_018046.5(AGGF1):c.313+6T>C | not provided [RCV000956288] | benign | 5 | 77034526 | 77034526 | Human | | name |
| 15107251 | CV779175 | single nucleotide variant | NM_018046.5(AGGF1):c.1845-4A>G | not provided [RCV000960253] | benign | 5 | 77061699 | 77061699 | Human | | name |
| 407453630 | CV3416366 | single nucleotide variant | NM_018046.5(AGGF1):c.84G>A (p.Lys28=) | not provided [RCV004597624] | likely benign | 5 | 77030850 | 77030850 | Human | | name |
| 597644289 | CV3667464 | single nucleotide variant | NM_018046.5(AGGF1):c.14C>G (p.Ala5Gly) | not specified [RCV004909647] | uncertain significance | 5 | 77030780 | 77030780 | Human | | name |
| 156094903 | CV2398888 | single nucleotide variant | NM_018046.5(AGGF1):c.256A>G (p.Asn86Asp) | not specified [RCV004245205] | uncertain significance | 5 | 77034463 | 77034463 | Human | | name |
| 401925326 | CV2827845 | single nucleotide variant | NM_018046.5(AGGF1):c.1470G>A (p.Pro490=) | not provided [RCV003436433] | likely benign | 5 | 77053967 | 77053967 | Human | | name |
| 407491420 | CV3431638 | single nucleotide variant | NM_018046.5(AGGF1):c.209A>G (p.Gln70Arg) | not specified [RCV004620508] | uncertain significance | 5 | 77030975 | 77030975 | Human | | name |
| 598176446 | CV3960741 | single nucleotide variant | NM_018046.5(AGGF1):c.164G>C (p.Arg55Pro) | not specified [RCV005332012] | uncertain significance | 5 | 77030930 | 77030930 | Human | | name |
| 15201339 | CV699171 | single nucleotide variant | NM_018046.5(AGGF1):c.1146T>C (p.Tyr382=) | not provided [RCV000957593] | benign|likely benign | 5 | 77046622 | 77046622 | Human | | name |
| 8631705 | CV86911 | single nucleotide variant | NM_018046.4(AGGF1):c.1296C>T (p.Asn432=) | Malignant melanoma [RCV000067002] | not provided | 5 | 77048255 | 77048255 | Human | | name |
| 156042919 | CV2311011 | single nucleotide variant | NM_018046.5(AGGF1):c.985A>G (p.Ser329Gly) | not specified [RCV004164033] | uncertain significance | 5 | 77046461 | 77046461 | Human | | name |
| 156051555 | CV2391252 | single nucleotide variant | NM_018046.5(AGGF1):c.878A>G (p.Asn293Ser) | not specified [RCV004237263] | uncertain significance | 5 | 77046354 | 77046354 | Human | | name |
| 329383976 | CV2434932 | single nucleotide variant | NM_018046.5(AGGF1):c.329C>T (p.Thr110Met) | not specified [RCV004250802] | uncertain significance | 5 | 77035556 | 77035556 | Human | | name |
| 329362727 | CV2439162 | single nucleotide variant | NM_018046.5(AGGF1):c.418A>G (p.Lys140Glu) | not specified [RCV004266441] | likely benign | 5 | 77035645 | 77035645 | Human | | name |
| 401780077 | CV2676807 | single nucleotide variant | NM_018046.5(AGGF1):c.509A>G (p.Asn170Ser) | not specified [RCV004290976] | uncertain significance | 5 | 77035736 | 77035736 | Human | | name |
| 401741608 | CV2697586 | single nucleotide variant | NM_018046.5(AGGF1):c.848C>T (p.Ser283Phe) | not specified [RCV004298339] | uncertain significance | 5 | 77039697 | 77039697 | Human | | name |
| 401869244 | CV2776070 | single nucleotide variant | NM_018046.5(AGGF1):c.554T>C (p.Leu185Ser) | not specified [RCV004353175] | uncertain significance | 5 | 77036593 | 77036593 | Human | | name |
| 405726030 | CV3260970 | single nucleotide variant | NM_018046.5(AGGF1):c.343G>A (p.Val115Ile) | not specified [RCV004389385] | uncertain significance | 5 | 77035570 | 77035570 | Human | | name |
| 405726077 | CV3260976 | single nucleotide variant | NM_018046.5(AGGF1):c.482A>G (p.Tyr161Cys) | not specified [RCV004389391] | likely benign | 5 | 77035709 | 77035709 | Human | | name |
| 405726166 | CV3260986 | single nucleotide variant | NM_018046.5(AGGF1):c.745C>T (p.Arg249Cys) | not specified [RCV004389401] | uncertain significance | 5 | 77039594 | 77039594 | Human | | name |
| 405726208 | CV3260991 | single nucleotide variant | NM_018046.5(AGGF1):c.813T>A (p.Asp271Glu) | not specified [RCV004389406] | uncertain significance | 5 | 77039662 | 77039662 | Human | | name |
| 405726266 | CV3260998 | single nucleotide variant | NM_018046.5(AGGF1):c.901A>G (p.Ser301Gly) | not specified [RCV004389413] | uncertain significance | 5 | 77046377 | 77046377 | Human | | name |
| 407491349 | CV3431620 | single nucleotide variant | NM_018046.5(AGGF1):c.512C>T (p.Ser171Leu) | not specified [RCV004620490] | uncertain significance | 5 | 77035739 | 77035739 | Human | | name |
| 407491559 | CV3431669 | single nucleotide variant | NM_018046.5(AGGF1):c.785C>T (p.Pro262Leu) | not specified [RCV004620539] | uncertain significance | 5 | 77039634 | 77039634 | Human | | name |
| 597644353 | CV3667485 | single nucleotide variant | NM_018046.5(AGGF1):c.940G>A (p.Ala314Thr) | not specified [RCV004909656] | uncertain significance | 5 | 77046416 | 77046416 | Human | | name |
| 597644439 | CV3667506 | single nucleotide variant | NM_018046.5(AGGF1):c.982A>G (p.Asn328Asp) | not specified [RCV004909668] | uncertain significance | 5 | 77046458 | 77046458 | Human | | name |
| 12896199 | CV389687 | single nucleotide variant | NM_018046.5(AGGF1):c.397G>A (p.Glu133Lys) | not provided [RCV001672749]|not specified [RCV000455025] | benign|likely benign | 5 | 77035624 | 77035624 | Human | | name |
| 598176534 | CV3960758 | single nucleotide variant | NM_018046.5(AGGF1):c.784C>T (p.Pro262Ser) | not specified [RCV005332029] | uncertain significance | 5 | 77039633 | 77039633 | Human | | name |
| 598176617 | CV3960775 | single nucleotide variant | NM_018046.5(AGGF1):c.764G>A (p.Arg255Gln) | not specified [RCV005332046] | uncertain significance | 5 | 77039613 | 77039613 | Human | | name |
| 15168573 | CV699170 | single nucleotide variant | NM_018046.5(AGGF1):c.367G>A (p.Glu123Lys) | not provided [RCV000949284] | benign | 5 | 77035594 | 77035594 | Human | | name |
| 15145173 | CV710015 | single nucleotide variant | NM_018046.5(AGGF1):c.335A>G (p.Tyr112Cys) | not provided [RCV000966950] | likely benign | 5 | 77035562 | 77035562 | Human | | name |
| 8626046 | CV81190 | single nucleotide variant | NM_018046.4(AGGF1):c.496C>T (p.His166Tyr) | Malignant melanoma [RCV000061268] | not provided | 5 | 77035723 | 77035723 | Human | | name |
| 156379537 | CV2217902 | single nucleotide variant | NM_018046.5(AGGF1):c.1694T>C (p.Ile565Thr) | not specified [RCV004086362] | uncertain significance | 5 | 77055574 | 77055574 | Human | | name |
| 156245078 | CV2218941 | single nucleotide variant | NM_018046.5(AGGF1):c.1048A>G (p.Ile350Val) | not specified [RCV004087125] | uncertain significance | 5 | 77046524 | 77046524 | Human | | name |
| 155975991 | CV2235973 | single nucleotide variant | NM_018046.5(AGGF1):c.1202A>G (p.Asp401Gly) | not specified [RCV004113851] | uncertain significance | 5 | 77048161 | 77048161 | Human | | name |
| 156015584 | CV2298898 | single nucleotide variant | NM_018046.5(AGGF1):c.1156A>G (p.Ile386Val) | not specified [RCV004156437] | uncertain significance | 5 | 77046632 | 77046632 | Human | | name |
| 155985583 | CV2368135 | single nucleotide variant | NM_018046.5(AGGF1):c.1800T>A (p.Ser600Arg) | not specified [RCV004216482] | uncertain significance | 5 | 77059699 | 77059699 | Human | | name |
| 156223201 | CV2394862 | single nucleotide variant | NM_018046.5(AGGF1):c.1958T>G (p.Leu653Arg) | not specified [RCV004234520] | uncertain significance | 5 | 77063065 | 77063065 | Human | | name |
| 329384665 | CV2435165 | single nucleotide variant | NM_018046.5(AGGF1):c.1492G>A (p.Val498Ile) | not specified [RCV004252804] | uncertain significance | 5 | 77053989 | 77053989 | Human | | name |
| 329377239 | CV2442666 | single nucleotide variant | NM_018046.5(AGGF1):c.1909G>T (p.Gly637Cys) | not specified [RCV004265018] | uncertain significance | 5 | 77061767 | 77061767 | Human | | name |
| 329373675 | CV2447325 | single nucleotide variant | NM_018046.5(AGGF1):c.1389C>G (p.Asp463Glu) | not specified [RCV004262609] | uncertain significance | 5 | 77052729 | 77052729 | Human | | name |
| 329364510 | CV2447544 | single nucleotide variant | NM_018046.5(AGGF1):c.2086A>G (p.Thr696Ala) | not specified [RCV004255901] | uncertain significance | 5 | 77063193 | 77063193 | Human | | name |
| 329363634 | CV2471863 | single nucleotide variant | NM_018046.5(AGGF1):c.1781G>A (p.Arg594His) | not specified [RCV004280895] | uncertain significance | 5 | 77059680 | 77059680 | Human | | name |
| 401741786 | CV2676525 | single nucleotide variant | NM_018046.5(AGGF1):c.1940C>T (p.Thr647Met) | not specified [RCV004288719] | uncertain significance | 5 | 77061798 | 77061798 | Human | | name |
| 401773684 | CV2727600 | single nucleotide variant | NM_018046.5(AGGF1):c.1720A>G (p.Thr574Ala) | not specified [RCV004329785] | uncertain significance | 5 | 77059619 | 77059619 | Human | | name |
| 401880444 | CV2780094 | single nucleotide variant | NM_018046.5(AGGF1):c.1868G>A (p.Gly623Asp) | not specified [RCV004355755] | uncertain significance | 5 | 77061726 | 77061726 | Human | | name |
| 401881570 | CV2783881 | single nucleotide variant | NM_018046.5(AGGF1):c.1309G>C (p.Gly437Arg) | not specified [RCV004360777] | uncertain significance | 5 | 77048268 | 77048268 | Human | | name |
| 405725662 | CV3260929 | single nucleotide variant | NM_018046.5(AGGF1):c.1525G>A (p.Glu509Lys) | not specified [RCV004389344] | uncertain significance | 5 | 77054022 | 77054022 | Human | | name |
| 405725879 | CV3260952 | single nucleotide variant | NM_018046.5(AGGF1):c.1976G>A (p.Gly659Asp) | not specified [RCV004389367] | uncertain significance | 5 | 77063083 | 77063083 | Human | | name |
| 405725904 | CV3260955 | single nucleotide variant | NM_018046.5(AGGF1):c.2053G>A (p.Ala685Thr) | not specified [RCV004389370] | uncertain significance | 5 | 77063160 | 77063160 | Human | | name |
| 405725947 | CV3260960 | single nucleotide variant | NM_018046.5(AGGF1):c.2110G>A (p.Gly704Arg) | not specified [RCV004389375] | uncertain significance | 5 | 77063217 | 77063217 | Human | | name |
| 407491393 | CV3431630 | single nucleotide variant | NM_018046.5(AGGF1):c.1856A>G (p.Asp619Gly) | not specified [RCV004620500] | uncertain significance | 5 | 77061714 | 77061714 | Human | | name |
| 407491463 | CV3431649 | single nucleotide variant | NM_018046.5(AGGF1):c.1553C>T (p.Pro518Leu) | not specified [RCV004620519] | uncertain significance | 5 | 77054050 | 77054050 | Human | | name |
| 407491511 | CV3431659 | single nucleotide variant | NM_018046.5(AGGF1):c.1090A>C (p.Thr364Pro) | not specified [RCV004620529] | uncertain significance | 5 | 77046566 | 77046566 | Human | | name |
| 407491609 | CV3431679 | single nucleotide variant | NM_018046.5(AGGF1):c.1027G>C (p.Glu343Gln) | not specified [RCV004620549] | uncertain significance | 5 | 77046503 | 77046503 | Human | | name |
| 597644339 | CV3667474 | single nucleotide variant | NM_018046.5(AGGF1):c.1024A>G (p.Ile342Val) | not specified [RCV004909654] | likely benign | 5 | 77046500 | 77046500 | Human | | name |
| 597644445 | CV3667515 | single nucleotide variant | NM_018046.5(AGGF1):c.1621G>A (p.Asp541Asn) | not specified [RCV004909669] | uncertain significance | 5 | 77054118 | 77054118 | Human | | name |
| 597644654 | CV3667525 | single nucleotide variant | NM_018046.5(AGGF1):c.1890G>C (p.Met630Ile) | not specified [RCV004909676] | uncertain significance | 5 | 77061748 | 77061748 | Human | | name |
| 597644697 | CV3667534 | single nucleotide variant | NM_018046.5(AGGF1):c.1334C>T (p.Thr445Ile) | not specified [RCV004909682] | uncertain significance | 5 | 77048956 | 77048956 | Human | | name |
| 598176397 | CV3960730 | single nucleotide variant | NM_018046.5(AGGF1):c.2096A>C (p.Gln699Pro) | not specified [RCV005332001] | uncertain significance | 5 | 77063203 | 77063203 | Human | | name |
| 598176570 | CV3960766 | single nucleotide variant | NM_018046.5(AGGF1):c.1741A>G (p.Thr581Ala) | not specified [RCV005332037] | likely benign | 5 | 77059640 | 77059640 | Human | | name |
| 598176664 | CV3960784 | single nucleotide variant | NM_018046.5(AGGF1):c.1321G>A (p.Asp441Asn) | not specified [RCV005332055] | uncertain significance | 5 | 77048943 | 77048943 | Human | | name |
| 598176735 | CV3960795 | single nucleotide variant | NM_018046.5(AGGF1):c.1051T>C (p.Ser351Pro) | not specified [RCV005332066] | uncertain significance | 5 | 77046527 | 77046527 | Human | | name |
| 15185166 | CV699172 | single nucleotide variant | NM_018046.5(AGGF1):c.1744T>G (p.Leu582Val) | not provided [RCV000952900] | likely benign | 5 | 77059643 | 77059643 | Human | | name |
| 15157237 | CV699173 | single nucleotide variant | NM_018046.5(AGGF1):c.2116A>T (p.Met706Leu) | not provided [RCV000946849] | benign | 5 | 77063223 | 77063223 | Human | | name |
| 155741841 | CV1770629 | duplication | NM_018046.5(AGGF1):c.112_132dup (p.Arg44_Glu45insSerCysLysArgGlnValArg) | Non-syndromic syndactyly [RCV002302837] | likely pathogenic | 5 | 77030872 | 77030873 | Human | 1 | name |
