| 597750169 | CV3665671 | single nucleotide variant | NM_001174070.3(FAM53A):c.45C>T (p.Asp15=) | not specified [RCV004923422] | likely benign | 4 | 1668697 | 1668697 | Human | | name |
| 156098236 | CV2392769 | single nucleotide variant | NM_001174070.3(FAM53A):c.81G>T (p.Gln27His) | not specified [RCV004247135] | uncertain significance | 4 | 1657463 | 1657463 | Human | | name |
| 15099256 | CV698421 | single nucleotide variant | NM_001174070.3(FAM53A):c.765G>C (p.Leu255=) | not provided [RCV000958733] | benign | 4 | 1655095 | 1655095 | Human | | name |
| 15191887 | CV698425 | single nucleotide variant | NM_001174070.3(FAM53A):c.699C>A (p.Gly233=) | not provided [RCV000954906] | benign|likely benign | 4 | 1655161 | 1655161 | Human | | name |
| 15164902 | CV709224 | single nucleotide variant | NM_001174070.3(FAM53A):c.630C>T (p.Ser210=) | not provided [RCV000970832] | benign | 4 | 1655230 | 1655230 | Human | | name |
| 15164906 | CV709225 | single nucleotide variant | NM_001174070.3(FAM53A):c.384G>A (p.Glu128=) | not provided [RCV000970833] | benign | 4 | 1655476 | 1655476 | Human | | name |
| 15193530 | CV720828 | single nucleotide variant | NM_001174070.3(FAM53A):c.763C>T (p.Leu255=) | not provided [RCV000888972] | benign | 4 | 1655097 | 1655097 | Human | | name |
| 329360961 | CV2439701 | single nucleotide variant | NM_001174070.3(FAM53A):c.112C>T (p.Arg38Cys) | not specified [RCV004255713] | uncertain significance | 4 | 1657432 | 1657432 | Human | | name |
| 401874374 | CV2759187 | single nucleotide variant | NM_001174070.3(FAM53A):c.200C>T (p.Pro67Leu) | not specified [RCV004342477] | uncertain significance | 4 | 1655660 | 1655660 | Human | | name |
| 405760932 | CV3256521 | single nucleotide variant | NM_001174070.3(FAM53A):c.199C>T (p.Pro67Ser) | not specified [RCV004383403] | uncertain significance | 4 | 1655661 | 1655661 | Human | | name |
| 405760926 | CV3256522 | single nucleotide variant | NM_001174070.3(FAM53A):c.206T>G (p.Phe69Cys) | not specified [RCV004383404] | uncertain significance | 4 | 1655654 | 1655654 | Human | | name |
| 405760922 | CV3256523 | single nucleotide variant | NM_001174070.3(FAM53A):c.230C>T (p.Ala77Val) | not specified [RCV004383405] | uncertain significance | 4 | 1655630 | 1655630 | Human | | name |
| 597750174 | CV3665670 | single nucleotide variant | NM_001174070.3(FAM53A):c.146C>T (p.Pro49Leu) | not specified [RCV004923421] | uncertain significance | 4 | 1655714 | 1655714 | Human | | name |
| 598237918 | CV3962380 | single nucleotide variant | NM_001174070.3(FAM53A):c.266A>G (p.Gln89Arg) | not specified [RCV005343725] | uncertain significance | 4 | 1655594 | 1655594 | Human | | name |
| 598237926 | CV3962381 | single nucleotide variant | NM_001174070.3(FAM53A):c.170C>T (p.Pro57Leu) | not specified [RCV005343726] | uncertain significance | 4 | 1655690 | 1655690 | Human | | name |
| 598195233 | CV3962384 | single nucleotide variant | NM_001174070.3(FAM53A):c.284C>G (p.Ala95Gly) | not specified [RCV005335536] | uncertain significance | 4 | 1655576 | 1655576 | Human | | name |
| 598237946 | CV3962385 | single nucleotide variant | NM_001174070.3(FAM53A):c.268T>C (p.Ser90Pro) | not specified [RCV005343729] | uncertain significance | 4 | 1655592 | 1655592 | Human | | name |
| 15196360 | CV698426 | single nucleotide variant | NM_001174070.3(FAM53A):c.134A>G (p.Asn45Ser) | not provided [RCV000956171] | benign | 4 | 1657410 | 1657410 | Human | | name |
| 8631074 | CV86230 | single nucleotide variant | NM_001013622.3(FAM53A):c.1098G>A (p.Arg366=) | Malignant melanoma [RCV000066321] | not provided | 4 | 1641392 | 1641392 | Human | | name |
| 156118256 | CV2209241 | single nucleotide variant | NM_001174070.3(FAM53A):c.401G>C (p.Arg134Pro) | not specified [RCV004093429] | uncertain significance | 4 | 1655459 | 1655459 | Human | | name |
| 156077878 | CV2248204 | single nucleotide variant | NM_001174070.3(FAM53A):c.790G>T (p.Val264Leu) | not specified [RCV004117595] | uncertain significance | 4 | 1655070 | 1655070 | Human | | name |
| 155996320 | CV2277392 | single nucleotide variant | NM_001174070.3(FAM53A):c.889A>C (p.Lys297Gln) | not specified [RCV004144810] | uncertain significance | 4 | 1641601 | 1641601 | Human | | name |
| 156283335 | CV2288888 | single nucleotide variant | NM_001174070.3(FAM53A):c.751G>T (p.Gly251Trp) | not specified [RCV004148077] | uncertain significance | 4 | 1655109 | 1655109 | Human | | name |
| 156088549 | CV2290707 | single nucleotide variant | NM_001174070.3(FAM53A):c.379C>T (p.Pro127Ser) | not specified [RCV004149230] | uncertain significance | 4 | 1655481 | 1655481 | Human | | name |
| 156055977 | CV2308843 | single nucleotide variant | NM_001174070.3(FAM53A):c.332C>T (p.Ser111Leu) | not specified [RCV004169145] | uncertain significance | 4 | 1655528 | 1655528 | Human | | name |
| 156358068 | CV2318418 | single nucleotide variant | NM_001174070.3(FAM53A):c.806G>A (p.Arg269Lys) | not specified [RCV004179573] | likely benign | 4 | 1655054 | 1655054 | Human | | name |
| 156051038 | CV2323319 | single nucleotide variant | NM_001174070.3(FAM53A):c.946C>T (p.Pro316Ser) | not specified [RCV004171731] | uncertain significance | 4 | 1641544 | 1641544 | Human | | name |
| 156069764 | CV2354045 | single nucleotide variant | NM_001174070.3(FAM53A):c.395G>A (p.Arg132His) | not specified [RCV004204472] | uncertain significance | 4 | 1655465 | 1655465 | Human | | name |
| 156163010 | CV2368364 | single nucleotide variant | NM_001174070.3(FAM53A):c.460G>A (p.Asp154Asn) | not specified [RCV004219139] | likely benign | 4 | 1655400 | 1655400 | Human | | name |
| 156057616 | CV2383223 | single nucleotide variant | NM_001174070.3(FAM53A):c.839C>T (p.Ala280Val) | not specified [RCV004220232] | uncertain significance | 4 | 1655021 | 1655021 | Human | | name |
| 156265107 | CV2389022 | single nucleotide variant | NM_001174070.3(FAM53A):c.499G>A (p.Ala167Thr) | not specified [RCV004242014] | uncertain significance | 4 | 1655361 | 1655361 | Human | | name |
| 156226025 | CV2390726 | single nucleotide variant | NM_001174070.3(FAM53A):c.364C>T (p.Arg122Trp) | not specified [RCV004241022] | uncertain significance | 4 | 1655496 | 1655496 | Human | | name |
| 329399522 | CV2443187 | single nucleotide variant | NM_001174070.3(FAM53A):c.814C>T (p.Arg272Cys) | not specified [RCV004260005] | uncertain significance | 4 | 1655046 | 1655046 | Human | | name |
| 401773115 | CV2698098 | single nucleotide variant | NM_001174070.3(FAM53A):c.595G>A (p.Glu199Lys) | not specified [RCV004302890] | uncertain significance | 4 | 1655265 | 1655265 | Human | | name |
| 401757992 | CV2731608 | single nucleotide variant | NM_001174070.3(FAM53A):c.496G>A (p.Gly166Ser) | not specified [RCV004330952] | uncertain significance | 4 | 1655364 | 1655364 | Human | | name |
| 401879947 | CV2755338 | single nucleotide variant | NM_001174070.3(FAM53A):c.547G>A (p.Ala183Thr) | not specified [RCV004337509] | uncertain significance | 4 | 1655313 | 1655313 | Human | | name |
| 405760916 | CV3256524 | single nucleotide variant | NM_001174070.3(FAM53A):c.463A>G (p.Ser155Gly) | not specified [RCV004383406] | uncertain significance | 4 | 1655397 | 1655397 | Human | | name |
| 405760909 | CV3256525 | single nucleotide variant | NM_001174070.3(FAM53A):c.662G>A (p.Arg221His) | not specified [RCV004383407] | uncertain significance | 4 | 1655198 | 1655198 | Human | | name |
| 405760720 | CV3256526 | single nucleotide variant | NM_001174070.3(FAM53A):c.826C>T (p.Arg276Cys) | not specified [RCV004383408] | uncertain significance | 4 | 1655034 | 1655034 | Human | | name |
| 405760566 | CV3256527 | single nucleotide variant | NM_001174070.3(FAM53A):c.850C>T (p.Arg284Cys) | not specified [RCV004383409] | uncertain significance | 4 | 1655010 | 1655010 | Human | | name |
| 407508969 | CV3431874 | single nucleotide variant | NM_001174070.3(FAM53A):c.653C>T (p.Thr218Met) | not specified [RCV004625573] | uncertain significance | 4 | 1655207 | 1655207 | Human | | name |
| 407508972 | CV3431875 | single nucleotide variant | NM_001174070.3(FAM53A):c.374C>T (p.Ser125Leu) | not specified [RCV004625574] | uncertain significance | 4 | 1655486 | 1655486 | Human | | name |
| 407508976 | CV3431876 | single nucleotide variant | NM_001174070.3(FAM53A):c.743C>T (p.Ala248Val) | not specified [RCV004625575] | uncertain significance | 4 | 1655117 | 1655117 | Human | | name |
| 407508979 | CV3431877 | single nucleotide variant | NM_001174070.3(FAM53A):c.659G>T (p.Arg220Leu) | not specified [RCV004625576] | uncertain significance | 4 | 1655201 | 1655201 | Human | | name |
| 407508986 | CV3431879 | single nucleotide variant | NM_001174070.3(FAM53A):c.568G>T (p.Ala190Ser) | not specified [RCV004625578] | uncertain significance | 4 | 1655292 | 1655292 | Human | | name |
| 407508989 | CV3431880 | single nucleotide variant | NM_001174070.3(FAM53A):c.986G>T (p.Gly329Val) | not specified [RCV004625579] | uncertain significance | 4 | 1641504 | 1641504 | Human | | name |
| 597750202 | CV3665664 | single nucleotide variant | NM_001174070.3(FAM53A):c.982C>T (p.Arg328Trp) | not specified [RCV004923415] | uncertain significance | 4 | 1641508 | 1641508 | Human | | name |
| 597750193 | CV3665666 | single nucleotide variant | NM_001174070.3(FAM53A):c.758G>C (p.Arg253Pro) | not specified [RCV004923417] | uncertain significance | 4 | 1655102 | 1655102 | Human | | name |
| 597750188 | CV3665667 | single nucleotide variant | NM_001174070.3(FAM53A):c.617C>T (p.Pro206Leu) | not specified [RCV004923418] | likely benign | 4 | 1655243 | 1655243 | Human | | name |
| 597750163 | CV3665673 | single nucleotide variant | NM_001174070.3(FAM53A):c.862G>C (p.Asp288His) | not specified [RCV004923424] | uncertain significance | 4 | 1654998 | 1654998 | Human | | name |
| 597749834 | CV3665677 | single nucleotide variant | NM_001174070.3(FAM53A):c.592A>G (p.Ser198Gly) | not specified [RCV004923428] | uncertain significance | 4 | 1655268 | 1655268 | Human | | name |
| 597749839 | CV3665678 | single nucleotide variant | NM_001174070.3(FAM53A):c.317G>A (p.Ser106Asn) | not specified [RCV004923429] | uncertain significance | 4 | 1655543 | 1655543 | Human | | name |
| 597749843 | CV3665679 | single nucleotide variant | NM_001174070.3(FAM53A):c.631G>T (p.Ala211Ser) | not specified [RCV004923430] | uncertain significance | 4 | 1655229 | 1655229 | Human | | name |
| 597749847 | CV3665680 | single nucleotide variant | NM_001174070.3(FAM53A):c.307G>A (p.Val103Met) | not specified [RCV004923431] | uncertain significance | 4 | 1655553 | 1655553 | Human | | name |
| 598237911 | CV3962379 | single nucleotide variant | NM_001174070.3(FAM53A):c.851G>A (p.Arg284His) | not specified [RCV005343724] | uncertain significance | 4 | 1655009 | 1655009 | Human | | name |
| 598237932 | CV3962382 | single nucleotide variant | NM_001174070.3(FAM53A):c.553C>T (p.Pro185Ser) | not specified [RCV005343727] | uncertain significance | 4 | 1655307 | 1655307 | Human | | name |
| 598237938 | CV3962383 | single nucleotide variant | NM_001174070.3(FAM53A):c.412C>T (p.Arg138Cys) | not specified [RCV005343728] | uncertain significance | 4 | 1655448 | 1655448 | Human | | name |
| 15099251 | CV698420 | single nucleotide variant | NM_001174070.3(FAM53A):c.811C>G (p.Arg271Gly) | not provided [RCV000958732] | benign | 4 | 1655049 | 1655049 | Human | | name |
| 15196349 | CV698422 | single nucleotide variant | NM_001174070.3(FAM53A):c.751G>A (p.Gly251Arg) | not provided [RCV000956168] | benign | 4 | 1655109 | 1655109 | Human | | name |
| 15196353 | CV698423 | single nucleotide variant | NM_001174070.3(FAM53A):c.731C>T (p.Thr244Met) | not provided [RCV000956169] | benign | 4 | 1655129 | 1655129 | Human | | name |
| 15196356 | CV698424 | single nucleotide variant | NM_001174070.3(FAM53A):c.704C>G (p.Pro235Arg) | not provided [RCV000956170] | benign | 4 | 1655156 | 1655156 | Human | | name |
| 15164897 | CV709223 | single nucleotide variant | NM_001174070.3(FAM53A):c.827G>A (p.Arg276His) | not provided [RCV000970831] | benign | 4 | 1655033 | 1655033 | Human | | name |
| 156319190 | CV2260797 | single nucleotide variant | NM_001174070.3(FAM53A):c.1144G>A (p.Val382Ile) | not specified [RCV004125712] | likely benign | 4 | 1641346 | 1641346 | Human | | name |
| 156086264 | CV2289932 | single nucleotide variant | NM_001174070.3(FAM53A):c.1027C>T (p.Leu343Phe) | not specified [RCV004150583] | uncertain significance | 4 | 1641463 | 1641463 | Human | | name |
| 156137682 | CV2354432 | single nucleotide variant | NM_001174070.3(FAM53A):c.1094G>A (p.Arg365His) | not specified [RCV004200380] | uncertain significance | 4 | 1641396 | 1641396 | Human | | name |
| 329388853 | CV2447934 | single nucleotide variant | NM_001174070.3(FAM53A):c.1171G>A (p.Asp391Asn) | not specified [RCV004260740] | uncertain significance | 4 | 1641319 | 1641319 | Human | | name |
| 401883984 | CV2764762 | single nucleotide variant | NM_001174070.3(FAM53A):c.1132G>A (p.Gly378Arg) | not specified [RCV004334869] | uncertain significance | 4 | 1641358 | 1641358 | Human | | name |
| 405747147 | CV3256515 | single nucleotide variant | NM_001174070.3(FAM53A):c.1004T>C (p.Met335Thr) | not specified [RCV004381413] | likely benign | 4 | 1641486 | 1641486 | Human | | name |
| 405747152 | CV3256516 | single nucleotide variant | NM_001174070.3(FAM53A):c.1025G>T (p.Gly342Val) | not specified [RCV004381414] | uncertain significance | 4 | 1641465 | 1641465 | Human | | name |
| 405760957 | CV3256517 | single nucleotide variant | NM_001174070.3(FAM53A):c.1051A>C (p.Asn351His) | not specified [RCV004383399] | uncertain significance | 4 | 1641439 | 1641439 | Human | | name |
| 405760950 | CV3256518 | single nucleotide variant | NM_001174070.3(FAM53A):c.1093C>T (p.Arg365Cys) | not specified [RCV004383400] | uncertain significance | 4 | 1641397 | 1641397 | Human | | name |
| 405760945 | CV3256519 | single nucleotide variant | NM_001174070.3(FAM53A):c.1102A>G (p.Ser368Gly) | not specified [RCV004383401] | uncertain significance | 4 | 1641388 | 1641388 | Human | | name |
| 405760938 | CV3256520 | single nucleotide variant | NM_001174070.3(FAM53A):c.1159C>T (p.Arg387Cys) | not specified [RCV004383402] | uncertain significance | 4 | 1641331 | 1641331 | Human | | name |
| 407508983 | CV3431878 | single nucleotide variant | NM_001174070.3(FAM53A):c.1073C>T (p.Ser358Leu) | not specified [RCV004625577] | uncertain significance | 4 | 1641417 | 1641417 | Human | | name |
| 597750184 | CV3665668 | single nucleotide variant | NM_001174070.3(FAM53A):c.1105G>A (p.Gly369Arg) | not specified [RCV004923419] | uncertain significance | 4 | 1641385 | 1641385 | Human | | name |
| 597750179 | CV3665669 | single nucleotide variant | NM_001174070.3(FAM53A):c.1060G>A (p.Ala354Thr) | not specified [RCV004923420] | uncertain significance | 4 | 1641430 | 1641430 | Human | | name |
| 597750166 | CV3665672 | single nucleotide variant | NM_001174070.3(FAM53A):c.1045C>T (p.His349Tyr) | not specified [RCV004923423] | uncertain significance | 4 | 1641445 | 1641445 | Human | | name |
| 597749871 | CV3665676 | single nucleotide variant | NM_001174070.3(FAM53A):c.1185C>G (p.Ile395Met) | not specified [RCV004923427] | uncertain significance | 4 | 1641305 | 1641305 | Human | | name |
