| 8583603 | CV118166 | single nucleotide variant | NM_015473.3(HEATR5A):c.4966+151A>T | Lung cancer [RCV000098686] | uncertain significance | 14 | 31306581 | 31306581 | Human | | name |
| 8583604 | CV118167 | single nucleotide variant | NM_015473.3(HEATR5A):c.1708+260T>C | Lung cancer [RCV000098687] | uncertain significance | 14 | 31380207 | 31380207 | Human | | name |
| 156352778 | CV2324045 | single nucleotide variant | NM_015473.4(HEATR5A):c.35A>C (p.Glu12Ala) | not specified [RCV004178345] | uncertain significance | 14 | 31402941 | 31402941 | Human | | name |
| 597781921 | CV3679323 | single nucleotide variant | NM_015473.4(HEATR5A):c.76A>G (p.Ile26Val) | not specified [RCV004931022] | uncertain significance | 14 | 31402900 | 31402900 | Human | | name |
| 156150773 | CV2377503 | single nucleotide variant | NM_015473.4(HEATR5A):c.224A>G (p.Asn75Ser) | not specified [RCV004225668] | uncertain significance | 14 | 31400415 | 31400415 | Human | | name |
| 155997130 | CV2398667 | single nucleotide variant | NM_015473.4(HEATR5A):c.111G>C (p.Leu37Phe) | not specified [RCV004240015] | uncertain significance | 14 | 31402865 | 31402865 | Human | | name |
| 401740878 | CV2681577 | single nucleotide variant | NM_015473.4(HEATR5A):c.118A>G (p.Thr40Ala) | not specified [RCV004292100] | uncertain significance | 14 | 31402858 | 31402858 | Human | | name |
| 401719830 | CV2729409 | single nucleotide variant | NM_015473.4(HEATR5A):c.277G>A (p.Asp93Asn) | not specified [RCV004332723] | uncertain significance | 14 | 31400362 | 31400362 | Human | | name |
| 405796786 | CV3262844 | single nucleotide variant | NM_015473.4(HEATR5A):c.137G>A (p.Arg46Lys) | not specified [RCV004401671] | likely benign | 14 | 31400502 | 31400502 | Human | | name |
| 405796796 | CV3262847 | single nucleotide variant | NM_015473.4(HEATR5A):c.205C>T (p.Arg69Cys) | not specified [RCV004401674] | uncertain significance | 14 | 31400434 | 31400434 | Human | | name |
| 405796811 | CV3262851 | single nucleotide variant | NM_015473.4(HEATR5A):c.241A>G (p.Ser81Gly) | not specified [RCV004401678] | uncertain significance | 14 | 31400398 | 31400398 | Human | | name |
| 407520852 | CV3440337 | single nucleotide variant | NM_015473.4(HEATR5A):c.107T>G (p.Leu36Arg) | not specified [RCV004630183] | uncertain significance | 14 | 31402869 | 31402869 | Human | | name |
| 407520858 | CV3440339 | single nucleotide variant | NM_015473.4(HEATR5A):c.146A>G (p.Gln49Arg) | not specified [RCV004630185] | uncertain significance | 14 | 31400493 | 31400493 | Human | | name |
| 598266791 | CV3967857 | single nucleotide variant | NM_015473.4(HEATR5A):c.262G>T (p.Val88Phe) | not specified [RCV005349358] | uncertain significance | 14 | 31400377 | 31400377 | Human | | name |
| 598266835 | CV3967872 | single nucleotide variant | NM_015473.4(HEATR5A):c.176T>C (p.Leu59Ser) | not specified [RCV005349368] | uncertain significance | 14 | 31400463 | 31400463 | Human | | name |
| 156182089 | CV2201862 | single nucleotide variant | NM_015473.4(HEATR5A):c.866G>A (p.Arg289Gln) | not specified [RCV004082289] | uncertain significance | 14 | 31388912 | 31388912 | Human | | name |
| 155922102 | CV2207405 | single nucleotide variant | NM_015473.4(HEATR5A):c.949G>A (p.Val317Ile) | not specified [RCV004088103] | likely benign | 14 | 31387360 | 31387360 | Human | | name |
| 155919071 | CV2254798 | single nucleotide variant | NM_015473.4(HEATR5A):c.881T>C (p.Met294Thr) | not specified [RCV004115265] | uncertain significance | 14 | 31388897 | 31388897 | Human | | name |
| 156184094 | CV2255408 | single nucleotide variant | NM_015473.4(HEATR5A):c.890G>A (p.Gly297Glu) | not specified [RCV004117770] | uncertain significance | 14 | 31388888 | 31388888 | Human | | name |
| 156112948 | CV2263712 | single nucleotide variant | NM_015473.4(HEATR5A):c.875G>A (p.Gly292Glu) | not specified [RCV004136003] | uncertain significance | 14 | 31388903 | 31388903 | Human | | name |
| 155950662 | CV2267889 | single nucleotide variant | NM_015473.4(HEATR5A):c.865C>G (p.Arg289Gly) | not specified [RCV004136183] | uncertain significance | 14 | 31388913 | 31388913 | Human | | name |
| 156259541 | CV2322238 | single nucleotide variant | NM_015473.4(HEATR5A):c.547A>G (p.Arg183Gly) | not specified [RCV004176010] | uncertain significance | 14 | 31395249 | 31395249 | Human | | name |
| 156050545 | CV2336601 | single nucleotide variant | NM_015473.4(HEATR5A):c.794G>A (p.Arg265His) | not specified [RCV004196848] | uncertain significance | 14 | 31388984 | 31388984 | Human | | name |
| 156284828 | CV2360704 | single nucleotide variant | NM_015473.4(HEATR5A):c.593C>T (p.Ala198Val) | not specified [RCV004213495] | uncertain significance | 14 | 31395203 | 31395203 | Human | | name |
| 329376698 | CV2428512 | single nucleotide variant | NM_015473.4(HEATR5A):c.629T>C (p.Phe210Ser) | not specified [RCV004253298] | uncertain significance | 14 | 31394195 | 31394195 | Human | | name |
| 401720088 | CV2705648 | single nucleotide variant | NM_015473.4(HEATR5A):c.998T>C (p.Phe333Ser) | not specified [RCV004318506] | uncertain significance | 14 | 31387311 | 31387311 | Human | | name |
| 401885732 | CV2774489 | single nucleotide variant | NM_015473.4(HEATR5A):c.387A>G (p.Ile129Met) | not specified [RCV004349980] | uncertain significance | 14 | 31398733 | 31398733 | Human | | name |
| 405796871 | CV3262869 | single nucleotide variant | NM_015473.4(HEATR5A):c.581G>A (p.Arg194His) | not specified [RCV004401696] | uncertain significance | 14 | 31395215 | 31395215 | Human | | name |
| 405796879 | CV3262872 | single nucleotide variant | NM_015473.4(HEATR5A):c.633G>A (p.Met211Ile) | not specified [RCV004401699] | uncertain significance | 14 | 31394191 | 31394191 | Human | | name |
| 407520841 | CV3440334 | single nucleotide variant | NM_015473.4(HEATR5A):c.332C>T (p.Thr111Ile) | not specified [RCV004630180] | uncertain significance | 14 | 31400307 | 31400307 | Human | | name |
| 407520845 | CV3440335 | single nucleotide variant | NM_015473.4(HEATR5A):c.299G>A (p.Arg100His) | not specified [RCV004630181] | uncertain significance | 14 | 31400340 | 31400340 | Human | | name |
| 407520887 | CV3440349 | single nucleotide variant | NM_015473.4(HEATR5A):c.613C>A (p.Gln205Lys) | not specified [RCV004630194] | uncertain significance | 14 | 31394211 | 31394211 | Human | | name |
| 597711601 | CV3679307 | single nucleotide variant | NM_015473.4(HEATR5A):c.584G>A (p.Cys195Tyr) | not specified [RCV004917571] | uncertain significance | 14 | 31395212 | 31395212 | Human | | name |
| 597781892 | CV3679309 | single nucleotide variant | NM_015473.4(HEATR5A):c.781C>T (p.Arg261Cys) | not specified [RCV004931015] | uncertain significance | 14 | 31388997 | 31388997 | Human | | name |
| 597711610 | CV3679312 | single nucleotide variant | NM_015473.4(HEATR5A):c.785A>G (p.Gln262Arg) | not specified [RCV004917572] | uncertain significance | 14 | 31388993 | 31388993 | Human | | name |
| 597781904 | CV3679313 | single nucleotide variant | NM_015473.4(HEATR5A):c.298C>T (p.Arg100Cys) | not specified [RCV004931018] | uncertain significance | 14 | 31400341 | 31400341 | Human | | name |
| 597711729 | CV3679332 | single nucleotide variant | NM_015473.4(HEATR5A):c.748G>A (p.Val250Ile) | not specified [RCV004917584] | likely benign | 14 | 31394076 | 31394076 | Human | | name |
| 598266798 | CV3967859 | single nucleotide variant | NM_015473.4(HEATR5A):c.458G>A (p.Arg153Gln) | not specified [RCV005349360] | uncertain significance | 14 | 31395338 | 31395338 | Human | | name |
| 598247049 | CV3967861 | single nucleotide variant | NM_015473.4(HEATR5A):c.641C>T (p.Thr214Met) | not specified [RCV005345242] | uncertain significance | 14 | 31394183 | 31394183 | Human | | name |
| 155914964 | CV2203894 | single nucleotide variant | NM_015473.4(HEATR5A):c.2208G>C (p.Glu736Asp) | not specified [RCV004069945] | uncertain significance | 14 | 31358921 | 31358921 | Human | | name |
| 156250416 | CV2232168 | single nucleotide variant | NM_015473.4(HEATR5A):c.2310G>T (p.Glu770Asp) | not specified [RCV004104971] | uncertain significance | 14 | 31358738 | 31358738 | Human | | name |
| 155941358 | CV2232555 | single nucleotide variant | NM_015473.4(HEATR5A):c.1666A>C (p.Thr556Pro) | not specified [RCV004099152] | uncertain significance | 14 | 31380509 | 31380509 | Human | | name |
| 156360379 | CV2269028 | single nucleotide variant | NM_015473.4(HEATR5A):c.2771A>G (p.His924Arg) | not specified [RCV004128424] | uncertain significance | 14 | 31347845 | 31347845 | Human | | name |
| 156361565 | CV2269271 | single nucleotide variant | NM_015473.4(HEATR5A):c.1603A>G (p.Met535Val) | not specified [RCV004130419] | uncertain significance | 14 | 31380572 | 31380572 | Human | | name |
| 156009101 | CV2294303 | single nucleotide variant | NM_015473.4(HEATR5A):c.1097G>A (p.Arg366Gln) | not specified [RCV004151431] | uncertain significance | 14 | 31387212 | 31387212 | Human | | name |
| 155952162 | CV2306036 | single nucleotide variant | NM_015473.4(HEATR5A):c.2609C>G (p.Pro870Arg) | not specified [RCV004161017] | uncertain significance | 14 | 31349888 | 31349888 | Human | | name |
| 156255002 | CV2325707 | single nucleotide variant | NM_015473.4(HEATR5A):c.2803C>T (p.His935Tyr) | not specified [RCV004180110] | uncertain significance | 14 | 31347813 | 31347813 | Human | | name |
| 156265060 | CV2364454 | single nucleotide variant | NM_015473.4(HEATR5A):c.1919G>A (p.Arg640His) | not specified [RCV004216932] | likely benign | 14 | 31371852 | 31371852 | Human | | name |
| 156087628 | CV2366410 | single nucleotide variant | NM_015473.4(HEATR5A):c.2366C>G (p.Ser789Cys) | not specified [RCV004212455] | uncertain significance | 14 | 31358682 | 31358682 | Human | | name |
| 156346106 | CV2377892 | single nucleotide variant | NM_015473.4(HEATR5A):c.1916A>G (p.Gln639Arg) | not specified [RCV004230463] | uncertain significance | 14 | 31371855 | 31371855 | Human | | name |
| 156008031 | CV2392682 | single nucleotide variant | NM_015473.4(HEATR5A):c.1072C>T (p.Arg358Cys) | not specified [RCV004247060] | uncertain significance | 14 | 31387237 | 31387237 | Human | | name |
| 329357290 | CV2431322 | single nucleotide variant | NM_015473.4(HEATR5A):c.1298A>G (p.His433Arg) | not specified [RCV004252444] | uncertain significance | 14 | 31386467 | 31386467 | Human | | name |
| 329400349 | CV2441551 | single nucleotide variant | NM_015473.4(HEATR5A):c.1106T>C (p.Ile369Thr) | not specified [RCV004257335] | uncertain significance | 14 | 31387203 | 31387203 | Human | | name |
| 329373717 | CV2447348 | single nucleotide variant | NM_015473.4(HEATR5A):c.1898T>C (p.Leu633Pro) | not specified [RCV004262627] | uncertain significance | 14 | 31371873 | 31371873 | Human | | name |
| 329388968 | CV2448545 | single nucleotide variant | NM_015473.4(HEATR5A):c.1495A>C (p.Lys499Gln) | not specified [RCV004259226] | uncertain significance | 14 | 31383622 | 31383622 | Human | | name |
| 329352186 | CV2452184 | single nucleotide variant | NM_015473.4(HEATR5A):c.2966T>C (p.Leu989Ser) | not specified [RCV004278893] | uncertain significance | 14 | 31345179 | 31345179 | Human | | name |
| 401740676 | CV2681493 | single nucleotide variant | NM_015473.4(HEATR5A):c.1585G>A (p.Gly529Arg) | not specified [RCV004292027] | uncertain significance | 14 | 31383532 | 31383532 | Human | | name |
| 401780878 | CV2681802 | single nucleotide variant | NM_015473.4(HEATR5A):c.1625T>C (p.Leu542Pro) | not specified [RCV004296804] | uncertain significance | 14 | 31380550 | 31380550 | Human | | name |
| 401781566 | CV2682041 | single nucleotide variant | NM_015473.4(HEATR5A):c.2090T>C (p.Leu697Pro) | not specified [RCV004290108] | uncertain significance | 14 | 31359039 | 31359039 | Human | | name |
| 401725752 | CV2687236 | single nucleotide variant | NM_015473.4(HEATR5A):c.1432G>A (p.Val478Met) | not specified [RCV004298180] | uncertain significance | 14 | 31383685 | 31383685 | Human | | name |
| 401771910 | CV2689638 | single nucleotide variant | NM_015473.4(HEATR5A):c.1724G>A (p.Ser575Asn) | not specified [RCV004297567] | uncertain significance | 14 | 31374953 | 31374953 | Human | | name |
| 401775685 | CV2692461 | single nucleotide variant | NM_015473.4(HEATR5A):c.2425G>C (p.Glu809Gln) | not specified [RCV004312218] | uncertain significance | 14 | 31350704 | 31350704 | Human | | name |
| 401773503 | CV2698236 | single nucleotide variant | NM_015473.4(HEATR5A):c.1721T>C (p.Val574Ala) | not specified [RCV004304797] | uncertain significance | 14 | 31374956 | 31374956 | Human | | name |
| 401783561 | CV2723709 | single nucleotide variant | NM_015473.4(HEATR5A):c.2003C>T (p.Thr668Ile) | not specified [RCV004325876] | uncertain significance | 14 | 31364257 | 31364257 | Human | | name |
| 401779034 | CV2733076 | single nucleotide variant | NM_015473.4(HEATR5A):c.1126A>G (p.Lys376Glu) | not specified [RCV004332010] | uncertain significance | 14 | 31387183 | 31387183 | Human | | name |
| 401861252 | CV2755502 | single nucleotide variant | NM_015473.4(HEATR5A):c.1628G>C (p.Cys543Ser) | not specified [RCV004340086] | uncertain significance | 14 | 31380547 | 31380547 | Human | | name |
| 401893519 | CV2765255 | single nucleotide variant | NM_015473.4(HEATR5A):c.1076G>A (p.Arg359His) | not specified [RCV004339778] | uncertain significance | 14 | 31387233 | 31387233 | Human | | name |
| 405796783 | CV3262843 | single nucleotide variant | NM_015473.4(HEATR5A):c.1117C>T (p.Leu373Phe) | not specified [RCV004401670] | uncertain significance | 14 | 31387192 | 31387192 | Human | | name |
| 405796789 | CV3262845 | single nucleotide variant | NM_015473.4(HEATR5A):c.1864A>G (p.Ile622Val) | not specified [RCV004401672] | uncertain significance | 14 | 31371907 | 31371907 | Human | | name |
| 405796791 | CV3262846 | single nucleotide variant | NM_015473.4(HEATR5A):c.1992T>G (p.Ser664Arg) | not specified [RCV004401673] | uncertain significance | 14 | 31364268 | 31364268 | Human | | name |
| 405796799 | CV3262848 | single nucleotide variant | NM_015473.4(HEATR5A):c.2158C>T (p.Pro720Ser) | not specified [RCV004401675] | uncertain significance | 14 | 31358971 | 31358971 | Human | | name |
| 405796803 | CV3262849 | single nucleotide variant | NM_015473.4(HEATR5A):c.2263G>A (p.Gly755Arg) | not specified [RCV004401676] | uncertain significance | 14 | 31358785 | 31358785 | Human | | name |
| 405796807 | CV3262850 | single nucleotide variant | NM_015473.4(HEATR5A):c.2309A>G (p.Glu770Gly) | not specified [RCV004401677] | uncertain significance | 14 | 31358739 | 31358739 | Human | | name |
| 407520830 | CV3440329 | single nucleotide variant | NM_015473.4(HEATR5A):c.1871G>A (p.Ser624Asn) | not specified [RCV004630177] | uncertain significance | 14 | 31371900 | 31371900 | Human | | name |
| 407520862 | CV3440341 | single nucleotide variant | NM_015473.4(HEATR5A):c.2980C>T (p.Pro994Ser) | not specified [RCV004630186] | uncertain significance | 14 | 31345165 | 31345165 | Human | | name |
| 407520877 | CV3440346 | single nucleotide variant | NM_015473.4(HEATR5A):c.2129A>G (p.Gln710Arg) | not specified [RCV004630191] | uncertain significance | 14 | 31359000 | 31359000 | Human | | name |
| 407520884 | CV3440348 | single nucleotide variant | NM_015473.4(HEATR5A):c.1891G>A (p.Asp631Asn) | not specified [RCV004630193] | uncertain significance | 14 | 31371880 | 31371880 | Human | | name |
| 407520891 | CV3440350 | single nucleotide variant | NM_015473.4(HEATR5A):c.2875G>A (p.Ala959Thr) | not specified [RCV004630195] | uncertain significance | 14 | 31345270 | 31345270 | Human | | name |
| 597781896 | CV3679310 | single nucleotide variant | NM_015473.4(HEATR5A):c.2728G>A (p.Val910Met) | not specified [RCV004931016] | uncertain significance | 14 | 31347888 | 31347888 | Human | | name |
| 597711637 | CV3679316 | single nucleotide variant | NM_015473.4(HEATR5A):c.2546G>A (p.Gly849Asp) | not specified [RCV004917575] | uncertain significance | 14 | 31349951 | 31349951 | Human | | name |
| 597781917 | CV3679322 | single nucleotide variant | NM_015473.4(HEATR5A):c.2623G>A (p.Ala875Thr) | not specified [RCV004931021] | uncertain significance | 14 | 31349874 | 31349874 | Human | | name |
| 597711667 | CV3679324 | single nucleotide variant | NM_015473.4(HEATR5A):c.1277A>G (p.Gln426Arg) | not specified [RCV004917578] | uncertain significance | 14 | 31386488 | 31386488 | Human | | name |
| 597781925 | CV3679325 | single nucleotide variant | NM_015473.4(HEATR5A):c.1712C>T (p.Pro571Leu) | not specified [RCV004931023] | uncertain significance | 14 | 31374965 | 31374965 | Human | | name |
| 597781929 | CV3679326 | single nucleotide variant | NM_015473.4(HEATR5A):c.1888G>A (p.Gly630Ser) | not specified [RCV004931024] | uncertain significance | 14 | 31371883 | 31371883 | Human | | name |
| 597711686 | CV3679328 | single nucleotide variant | NM_015473.4(HEATR5A):c.2336C>G (p.Pro779Arg) | not specified [RCV004917580] | uncertain significance | 14 | 31358712 | 31358712 | Human | | name |
| 597711719 | CV3679331 | single nucleotide variant | NM_015473.4(HEATR5A):c.1456C>T (p.Pro486Ser) | not specified [RCV004917583] | uncertain significance | 14 | 31383661 | 31383661 | Human | | name |
| 598266786 | CV3967855 | single nucleotide variant | NM_015473.4(HEATR5A):c.1648C>T (p.Arg550Cys) | not specified [RCV005349357] | uncertain significance | 14 | 31380527 | 31380527 | Human | | name |
| 598247042 | CV3967856 | single nucleotide variant | NM_015473.4(HEATR5A):c.2464C>A (p.Arg822Ser) | not specified [RCV005345241] | uncertain significance | 14 | 31350665 | 31350665 | Human | | name |
| 598266808 | CV3967862 | single nucleotide variant | NM_015473.4(HEATR5A):c.1073G>A (p.Arg358His) | not specified [RCV005349362] | uncertain significance | 14 | 31387236 | 31387236 | Human | | name |
| 598247062 | CV3967864 | single nucleotide variant | NM_015473.4(HEATR5A):c.2635T>A (p.Ser879Thr) | not specified [RCV005345244] | uncertain significance | 14 | 31349862 | 31349862 | Human | | name |
| 598266816 | CV3967866 | single nucleotide variant | NM_015473.4(HEATR5A):c.1927C>T (p.Pro643Ser) | not specified [RCV005349364] | uncertain significance | 14 | 31371844 | 31371844 | Human | | name |
| 598247070 | CV3967868 | single nucleotide variant | NM_015473.4(HEATR5A):c.1223G>A (p.Arg408Gln) | not specified [RCV005345246] | uncertain significance | 14 | 31386542 | 31386542 | Human | | name |
| 598266839 | CV3967873 | single nucleotide variant | NM_015473.4(HEATR5A):c.1499C>G (p.Ser500Cys) | not specified [RCV005349369] | uncertain significance | 14 | 31383618 | 31383618 | Human | | name |
| 598247083 | CV3967877 | single nucleotide variant | NM_015473.4(HEATR5A):c.2012T>G (p.Val671Gly) | not specified [RCV005345248] | uncertain significance | 14 | 31364248 | 31364248 | Human | | name |
| 598266856 | CV3967879 | single nucleotide variant | NM_015473.4(HEATR5A):c.2027G>A (p.Arg676Lys) | not specified [RCV005349373] | uncertain significance | 14 | 31364233 | 31364233 | Human | | name |
| 598266861 | CV3967880 | single nucleotide variant | NM_015473.4(HEATR5A):c.1760G>A (p.Cys587Tyr) | not specified [RCV005349374] | uncertain significance | 14 | 31374917 | 31374917 | Human | | name |
| 598266865 | CV3967881 | single nucleotide variant | NM_015473.4(HEATR5A):c.1972A>G (p.Ile658Val) | not specified [RCV005349375] | uncertain significance | 14 | 31364288 | 31364288 | Human | | name |
| 598266869 | CV3967882 | single nucleotide variant | NM_015473.4(HEATR5A):c.2438A>G (p.Asp813Gly) | not specified [RCV005349376] | uncertain significance | 14 | 31350691 | 31350691 | Human | | name |
| 156074996 | CV2198061 | single nucleotide variant | NM_015473.4(HEATR5A):c.5330C>T (p.Ser1777Leu) | not specified [RCV004079664] | uncertain significance | 14 | 31302429 | 31302429 | Human | | name |
| 156079096 | CV2198357 | single nucleotide variant | NM_015473.4(HEATR5A):c.3454A>G (p.Lys1152Glu) | not specified [RCV004081900] | uncertain significance | 14 | 31326256 | 31326256 | Human | | name |
| 156317040 | CV2203895 | single nucleotide variant | NM_015473.4(HEATR5A):c.5993T>C (p.Leu1998Ser) | not specified [RCV004069946] | uncertain significance | 14 | 31293453 | 31293453 | Human | | name |
| 156253176 | CV2212522 | single nucleotide variant | NM_015473.4(HEATR5A):c.3400G>A (p.Ala1134Thr) | not specified [RCV004091406] | uncertain significance | 14 | 31326310 | 31326310 | Human | | name |
| 155930259 | CV2224694 | single nucleotide variant | NM_015473.4(HEATR5A):c.3800T>C (p.Val1267Ala) | not specified [RCV004092530] | uncertain significance | 14 | 31321668 | 31321668 | Human | | name |
| 155977819 | CV2226474 | single nucleotide variant | NM_015473.4(HEATR5A):c.3578T>C (p.Met1193Thr) | not specified [RCV004099676] | uncertain significance | 14 | 31323774 | 31323774 | Human | | name |
| 156062496 | CV2231995 | single nucleotide variant | NM_015473.4(HEATR5A):c.3130G>A (p.Asp1044Asn) | not specified [RCV004093053] | uncertain significance | 14 | 31343994 | 31343994 | Human | | name |
| 156138465 | CV2236686 | single nucleotide variant | NM_015473.4(HEATR5A):c.5405C>T (p.Thr1802Ile) | not specified [RCV004110644] | uncertain significance | 14 | 31302354 | 31302354 | Human | | name |
| 156255686 | CV2264749 | single nucleotide variant | NM_015473.4(HEATR5A):c.4057G>A (p.Ala1353Thr) | not specified [RCV004132728] | uncertain significance | 14 | 31315931 | 31315931 | Human | | name |
| 156046293 | CV2268674 | single nucleotide variant | NM_015473.4(HEATR5A):c.4667C>G (p.Thr1556Ser) | not specified [RCV004124078] | uncertain significance | 14 | 31308957 | 31308957 | Human | | name |
| 156167025 | CV2270458 | single nucleotide variant | NM_015473.4(HEATR5A):c.4172G>T (p.Ser1391Ile) | not specified [RCV004137425] | uncertain significance | 14 | 31315816 | 31315816 | Human | | name |
| 156121623 | CV2276024 | single nucleotide variant | NM_015473.4(HEATR5A):c.5938G>C (p.Ala1980Pro) | not specified [RCV004141701] | uncertain significance | 14 | 31293508 | 31293508 | Human | | name |
| 156259080 | CV2277799 | single nucleotide variant | NM_015473.4(HEATR5A):c.3680T>C (p.Val1227Ala) | not specified [RCV004147223] | uncertain significance | 14 | 31323672 | 31323672 | Human | | name |
| 155992724 | CV2281239 | single nucleotide variant | NM_015473.4(HEATR5A):c.6109T>C (p.Ser2037Pro) | not specified [RCV004147487] | uncertain significance | 14 | 31293337 | 31293337 | Human | | name |
| 156129165 | CV2283969 | single nucleotide variant | NM_015473.4(HEATR5A):c.6023G>A (p.Arg2008His) | not specified [RCV004144278] | uncertain significance | 14 | 31293423 | 31293423 | Human | | name |
| 156154329 | CV2303899 | single nucleotide variant | NM_015473.4(HEATR5A):c.3826A>G (p.Met1276Val) | not specified [RCV004168181] | uncertain significance | 14 | 31321642 | 31321642 | Human | | name |
| 156098915 | CV2306500 | single nucleotide variant | NM_015473.4(HEATR5A):c.5012A>C (p.Glu1671Ala) | not specified [RCV004157116] | uncertain significance | 14 | 31305132 | 31305132 | Human | | name |
| 156274327 | CV2316367 | single nucleotide variant | NM_015473.4(HEATR5A):c.3151G>A (p.Ala1051Thr) | not specified [RCV004169870] | uncertain significance | 14 | 31343973 | 31343973 | Human | | name |
| 156049853 | CV2319339 | single nucleotide variant | NM_015473.4(HEATR5A):c.4397T>C (p.Leu1466Pro) | not specified [RCV004180164] | uncertain significance | 14 | 31313012 | 31313012 | Human | | name |
| 156290929 | CV2324955 | single nucleotide variant | NM_015473.4(HEATR5A):c.4882A>C (p.Ile1628Leu) | not specified [RCV004175210] | uncertain significance | 14 | 31306816 | 31306816 | Human | | name |
| 156177767 | CV2327247 | single nucleotide variant | NM_015473.4(HEATR5A):c.3092C>T (p.Ser1031Phe) | not specified [RCV004174699] | uncertain significance | 14 | 31344032 | 31344032 | Human | | name |
| 156072220 | CV2328739 | single nucleotide variant | NM_015473.4(HEATR5A):c.5102C>G (p.Pro1701Arg) | not specified [RCV004177969] | uncertain significance | 14 | 31305042 | 31305042 | Human | | name |
| 155919307 | CV2333170 | single nucleotide variant | NM_015473.4(HEATR5A):c.3904C>G (p.Arg1302Gly) | not specified [RCV004194459] | uncertain significance | 14 | 31321564 | 31321564 | Human | | name |
| 156285599 | CV2334861 | single nucleotide variant | NM_015473.4(HEATR5A):c.4438G>A (p.Glu1480Lys) | not specified [RCV004181969] | uncertain significance | 14 | 31312971 | 31312971 | Human | | name |
| 156050438 | CV2336593 | single nucleotide variant | NM_015473.4(HEATR5A):c.4634G>A (p.Gly1545Glu) | not specified [RCV004196841] | uncertain significance | 14 | 31308990 | 31308990 | Human | | name |
| 156172479 | CV2337601 | single nucleotide variant | NM_015473.4(HEATR5A):c.4007C>T (p.Thr1336Ile) | not specified [RCV004181165] | uncertain significance | 14 | 31318255 | 31318255 | Human | | name |
| 156291890 | CV2339955 | single nucleotide variant | NM_015473.4(HEATR5A):c.3980C>T (p.Ala1327Val) | not specified [RCV004192217] | uncertain significance | 14 | 31318282 | 31318282 | Human | | name |
| 155927804 | CV2365989 | single nucleotide variant | NM_015473.4(HEATR5A):c.3523A>G (p.Lys1175Glu) | not specified [RCV004207592] | uncertain significance | 14 | 31326187 | 31326187 | Human | | name |
| 156390404 | CV2373364 | single nucleotide variant | NM_015473.4(HEATR5A):c.5794G>A (p.Val1932Ile) | not specified [RCV004220071] | uncertain significance | 14 | 31293930 | 31293930 | Human | | name |
| 156169062 | CV2373855 | single nucleotide variant | NM_015473.4(HEATR5A):c.5819C>G (p.Ala1940Gly) | not specified [RCV004224789] | uncertain significance | 14 | 31293905 | 31293905 | Human | | name |
| 156077344 | CV2375098 | single nucleotide variant | NM_015473.4(HEATR5A):c.5265A>G (p.Ile1755Met) | not specified [RCV004230143] | uncertain significance | 14 | 31302494 | 31302494 | Human | | name |
| 156059957 | CV2391819 | single nucleotide variant | NM_015473.4(HEATR5A):c.4721G>A (p.Arg1574His) | not specified [RCV004235698] | uncertain significance | 14 | 31307990 | 31307990 | Human | | name |
| 156201276 | CV2392479 | single nucleotide variant | NM_015473.4(HEATR5A):c.5500C>A (p.Leu1834Ile) | not specified [RCV004244051] | uncertain significance | 14 | 31296028 | 31296028 | Human | | name |
| 155965703 | CV2395989 | single nucleotide variant | NM_015473.4(HEATR5A):c.3874G>T (p.Gly1292Cys) | not specified [RCV004237537] | uncertain significance | 14 | 31321594 | 31321594 | Human | | name |
| 155957878 | CV2396600 | single nucleotide variant | NM_015473.4(HEATR5A):c.5165T>C (p.Leu1722Ser) | not specified [RCV004240428] | likely benign | 14 | 31304979 | 31304979 | Human | | name |
| 329361295 | CV2436865 | single nucleotide variant | NM_015473.4(HEATR5A):c.4763C>G (p.Ala1588Gly) | not specified [RCV004260254] | uncertain significance | 14 | 31307948 | 31307948 | Human | | name |
| 329354201 | CV2437663 | single nucleotide variant | NM_015473.4(HEATR5A):c.6022C>T (p.Arg2008Cys) | not specified [RCV004260979] | uncertain significance | 14 | 31293424 | 31293424 | Human | | name |
| 329399780 | CV2444178 | single nucleotide variant | NM_015473.4(HEATR5A):c.3194A>G (p.His1065Arg) | not specified [RCV004260912] | uncertain significance | 14 | 31343930 | 31343930 | Human | | name |
| 329391837 | CV2453181 | single nucleotide variant | NM_015473.4(HEATR5A):c.5147C>T (p.Thr1716Met) | not specified [RCV004279557] | uncertain significance | 14 | 31304997 | 31304997 | Human | | name |
| 329396712 | CV2458964 | single nucleotide variant | NM_015473.4(HEATR5A):c.5672C>T (p.Pro1891Leu) | not specified [RCV004272452] | uncertain significance | 14 | 31294052 | 31294052 | Human | | name |
| 329370762 | CV2461853 | single nucleotide variant | NM_015473.4(HEATR5A):c.3112G>A (p.Val1038Ile) | not specified [RCV004271766] | uncertain significance | 14 | 31344012 | 31344012 | Human | | name |
| 329359653 | CV2462159 | single nucleotide variant | NM_015473.4(HEATR5A):c.4273A>G (p.Thr1425Ala) | not specified [RCV004266180] | uncertain significance | 14 | 31313136 | 31313136 | Human | | name |
| 401722441 | CV2676987 | single nucleotide variant | NM_015473.4(HEATR5A):c.5813C>A (p.Thr1938Asn) | not specified [RCV004293588] | uncertain significance | 14 | 31293911 | 31293911 | Human | | name |
| 401730039 | CV2683917 | single nucleotide variant | NM_015473.4(HEATR5A):c.3308C>T (p.Ala1103Val) | not specified [RCV004284637] | uncertain significance | 14 | 31337535 | 31337535 | Human | | name |
| 401772315 | CV2687484 | single nucleotide variant | NM_015473.4(HEATR5A):c.3065G>A (p.Ser1022Asn) | not specified [RCV004300722] | uncertain significance | 14 | 31344059 | 31344059 | Human | | name |
| 401749748 | CV2694735 | single nucleotide variant | NM_015473.4(HEATR5A):c.3455A>G (p.Lys1152Arg) | not specified [RCV004298822] | uncertain significance | 14 | 31326255 | 31326255 | Human | | name |
| 401747743 | CV2696780 | single nucleotide variant | NM_015473.4(HEATR5A):c.5201T>C (p.Val1734Ala) | not specified [RCV004290752] | uncertain significance | 14 | 31304943 | 31304943 | Human | | name |
| 401730160 | CV2700469 | single nucleotide variant | NM_015473.4(HEATR5A):c.4466C>T (p.Thr1489Ile) | not specified [RCV004311104] | uncertain significance | 14 | 31309158 | 31309158 | Human | | name |
| 401718341 | CV2708231 | single nucleotide variant | NM_015473.4(HEATR5A):c.5281G>C (p.Gly1761Arg) | not specified [RCV004311582] | uncertain significance | 14 | 31302478 | 31302478 | Human | | name |
| 401770124 | CV2719047 | single nucleotide variant | NM_015473.4(HEATR5A):c.4540A>C (p.Ser1514Arg) | not specified [RCV004322626] | uncertain significance | 14 | 31309084 | 31309084 | Human | | name |
| 401783477 | CV2723611 | single nucleotide variant | NM_015473.4(HEATR5A):c.3593G>T (p.Gly1198Val) | not specified [RCV004325793] | uncertain significance | 14 | 31323759 | 31323759 | Human | | name |
| 401889429 | CV2756513 | single nucleotide variant | NM_015473.4(HEATR5A):c.3344A>G (p.Asp1115Gly) | not specified [RCV004345044] | uncertain significance | 14 | 31337499 | 31337499 | Human | | name |
| 401889777 | CV2763385 | single nucleotide variant | NM_015473.4(HEATR5A):c.6069G>T (p.Lys2023Asn) | not specified [RCV004349275] | uncertain significance | 14 | 31293377 | 31293377 | Human | | name |
| 401878681 | CV2776922 | single nucleotide variant | NM_015473.4(HEATR5A):c.4680T>A (p.His1560Gln) | not specified [RCV004351739] | uncertain significance | 14 | 31308944 | 31308944 | Human | | name |
| 401910382 | CV2810340 | single nucleotide variant | NM_015473.4(HEATR5A):c.5026G>A (p.Gly1676Arg) | not provided [RCV003425014] | likely benign | 14 | 31305118 | 31305118 | Human | 7 | name |
| 405796820 | CV3262853 | single nucleotide variant | NM_015473.4(HEATR5A):c.3286C>A (p.Gln1096Lys) | not specified [RCV004401680] | uncertain significance | 14 | 31337557 | 31337557 | Human | | name |
| 405796825 | CV3262854 | single nucleotide variant | NM_015473.4(HEATR5A):c.3731A>G (p.Asn1244Ser) | not specified [RCV004401681] | uncertain significance | 14 | 31323621 | 31323621 | Human | | name |
| 405796827 | CV3262855 | single nucleotide variant | NM_015473.4(HEATR5A):c.3754T>G (p.Leu1252Val) | not specified [RCV004401682] | uncertain significance | 14 | 31323598 | 31323598 | Human | | name |
| 405796831 | CV3262856 | single nucleotide variant | NM_015473.4(HEATR5A):c.3823C>T (p.Arg1275Cys) | not specified [RCV004401683] | uncertain significance | 14 | 31321645 | 31321645 | Human | | name |
| 405796835 | CV3262857 | single nucleotide variant | NM_015473.4(HEATR5A):c.3905G>A (p.Arg1302Gln) | not specified [RCV004401684] | uncertain significance | 14 | 31321563 | 31321563 | Human | | name |
| 405796839 | CV3262858 | single nucleotide variant | NM_015473.4(HEATR5A):c.3938G>C (p.Gly1313Ala) | not specified [RCV004401685] | uncertain significance | 14 | 31321530 | 31321530 | Human | | name |
| 405796842 | CV3262859 | single nucleotide variant | NM_015473.4(HEATR5A):c.4091G>A (p.Arg1364Gln) | not specified [RCV004401686] | uncertain significance | 14 | 31315897 | 31315897 | Human | | name |
| 405796846 | CV3262860 | single nucleotide variant | NM_015473.4(HEATR5A):c.4400T>C (p.Leu1467Ser) | not specified [RCV004401687] | uncertain significance | 14 | 31313009 | 31313009 | Human | | name |
| 405796849 | CV3262861 | single nucleotide variant | NM_015473.4(HEATR5A):c.4679A>G (p.His1560Arg) | not specified [RCV004401688] | uncertain significance | 14 | 31308945 | 31308945 | Human | | name |
| 405796855 | CV3262863 | single nucleotide variant | NM_015473.4(HEATR5A):c.4775T>C (p.Leu1592Pro) | not specified [RCV004401690] | uncertain significance | 14 | 31307936 | 31307936 | Human | | name |
| 405796858 | CV3262864 | single nucleotide variant | NM_015473.4(HEATR5A):c.4868G>T (p.Arg1623Ile) | not specified [RCV004401691] | uncertain significance | 14 | 31306830 | 31306830 | Human | | name |
| 405796860 | CV3262865 | single nucleotide variant | NM_015473.4(HEATR5A):c.5312C>T (p.Pro1771Leu) | not specified [RCV004401692] | uncertain significance | 14 | 31302447 | 31302447 | Human | | name |
| 405796862 | CV3262866 | single nucleotide variant | NM_015473.4(HEATR5A):c.5362G>A (p.Gly1788Arg) | not specified [RCV004401693] | uncertain significance | 14 | 31302397 | 31302397 | Human | | name |
| 405796865 | CV3262867 | single nucleotide variant | NM_015473.4(HEATR5A):c.5386C>T (p.Arg1796Trp) | not specified [RCV004401694] | uncertain significance | 14 | 31302373 | 31302373 | Human | | name |
| 405796868 | CV3262868 | single nucleotide variant | NM_015473.4(HEATR5A):c.5699C>G (p.Ser1900Cys) | not specified [RCV004401695] | uncertain significance | 14 | 31294025 | 31294025 | Human | | name |
| 405796874 | CV3262870 | single nucleotide variant | NM_015473.4(HEATR5A):c.5929C>T (p.His1977Tyr) | not specified [RCV004401697] | uncertain significance | 14 | 31293517 | 31293517 | Human | | name |
| 405796877 | CV3262871 | single nucleotide variant | NM_015473.4(HEATR5A):c.6017A>T (p.Lys2006Ile) | not specified [RCV004401698] | uncertain significance | 14 | 31293429 | 31293429 | Human | | name |
| 407520827 | CV3440328 | single nucleotide variant | NM_015473.4(HEATR5A):c.5572C>T (p.Arg1858Cys) | not specified [RCV004630176] | uncertain significance | 14 | 31295956 | 31295956 | Human | | name |
| 407504845 | CV3440330 | single nucleotide variant | NM_015473.4(HEATR5A):c.5387G>A (p.Arg1796Gln) | not specified [RCV004624168] | uncertain significance | 14 | 31302372 | 31302372 | Human | | name |
| 407520835 | CV3440331 | single nucleotide variant | NM_015473.4(HEATR5A):c.5573G>A (p.Arg1858His) | not specified [RCV004630178] | uncertain significance | 14 | 31295955 | 31295955 | Human | | name |
| 407504848 | CV3440332 | single nucleotide variant | NM_015473.4(HEATR5A):c.3242G>T (p.Ser1081Ile) | not specified [RCV004624169] | uncertain significance | 14 | 31337601 | 31337601 | Human | | name |
| 407520849 | CV3440336 | single nucleotide variant | NM_015473.4(HEATR5A):c.3013C>T (p.Arg1005Cys) | not specified [RCV004630182] | uncertain significance | 14 | 31345132 | 31345132 | Human | | name |
| 407520855 | CV3440338 | single nucleotide variant | NM_015473.4(HEATR5A):c.4553T>C (p.Val1518Ala) | not specified [RCV004630184] | uncertain significance | 14 | 31309071 | 31309071 | Human | | name |
| 407504849 | CV3440340 | single nucleotide variant | NM_015473.4(HEATR5A):c.5714T>G (p.Ile1905Ser) | not specified [RCV004624170] | uncertain significance | 14 | 31294010 | 31294010 | Human | | name |
| 407520865 | CV3440342 | single nucleotide variant | NM_015473.4(HEATR5A):c.5950C>G (p.Leu1984Val) | not specified [RCV004630187] | uncertain significance | 14 | 31293496 | 31293496 | Human | | name |
| 407520868 | CV3440343 | single nucleotide variant | NM_015473.4(HEATR5A):c.5019G>T (p.Lys1673Asn) | not specified [RCV004630188] | uncertain significance | 14 | 31305125 | 31305125 | Human | | name |
| 407520874 | CV3440345 | single nucleotide variant | NM_015473.4(HEATR5A):c.6043G>A (p.Gly2015Ser) | not specified [RCV004630190] | uncertain significance | 14 | 31293403 | 31293403 | Human | | name |
| 407520881 | CV3440347 | single nucleotide variant | NM_015473.4(HEATR5A):c.4103A>C (p.Gln1368Pro) | not specified [RCV004630192] | uncertain significance | 14 | 31315885 | 31315885 | Human | | name |
| 407520894 | CV3440351 | single nucleotide variant | NM_015473.4(HEATR5A):c.3242G>C (p.Ser1081Thr) | not specified [RCV004630196] | uncertain significance | 14 | 31337601 | 31337601 | Human | | name |
| 597781887 | CV3679301 | single nucleotide variant | NM_015473.4(HEATR5A):c.5873C>T (p.Ser1958Phe) | not specified [RCV004931014] | uncertain significance | 14 | 31293573 | 31293573 | Human | | name |
| 597711561 | CV3679303 | single nucleotide variant | NM_015473.4(HEATR5A):c.5872T>A (p.Ser1958Thr) | not specified [RCV004917566] | uncertain significance | 14 | 31293574 | 31293574 | Human | | name |
| 597711569 | CV3679304 | single nucleotide variant | NM_015473.4(HEATR5A):c.3766A>G (p.Met1256Val) | not specified [RCV004917567] | uncertain significance | 14 | 31323586 | 31323586 | Human | | name |
| 597711580 | CV3679305 | single nucleotide variant | NM_015473.4(HEATR5A):c.4622G>T (p.Gly1541Val) | not specified [RCV004917568] | uncertain significance | 14 | 31309002 | 31309002 | Human | | name |
| 597711591 | CV3679306 | single nucleotide variant | NM_015473.4(HEATR5A):c.4920C>G (p.Ile1640Met) | not specified [RCV004917570] | uncertain significance | 14 | 31306778 | 31306778 | Human | | name |
| 597781900 | CV3679311 | single nucleotide variant | NM_015473.4(HEATR5A):c.3484A>G (p.Met1162Val) | not specified [RCV004931017] | uncertain significance | 14 | 31326226 | 31326226 | Human | | name |
| 597711620 | CV3679314 | single nucleotide variant | NM_015473.4(HEATR5A):c.5444T>G (p.Ile1815Ser) | not specified [RCV004917573] | uncertain significance | 14 | 31302315 | 31302315 | Human | | name |
| 597711627 | CV3679315 | single nucleotide variant | NM_015473.4(HEATR5A):c.3286C>G (p.Gln1096Glu) | not specified [RCV004917574] | uncertain significance | 14 | 31337557 | 31337557 | Human | | name |
| 597781908 | CV3679317 | single nucleotide variant | NM_015473.4(HEATR5A):c.3988C>T (p.Pro1330Ser) | not specified [RCV004931019] | uncertain significance | 14 | 31318274 | 31318274 | Human | | name |
| 597711646 | CV3679318 | single nucleotide variant | NM_015473.4(HEATR5A):c.4212G>T (p.Trp1404Cys) | not specified [RCV004917576] | uncertain significance | 14 | 31315776 | 31315776 | Human | | name |
| 597781913 | CV3679320 | single nucleotide variant | NM_015473.4(HEATR5A):c.3866G>A (p.Arg1289His) | not specified [RCV004931020] | uncertain significance | 14 | 31321602 | 31321602 | Human | | name |
| 597711655 | CV3679321 | single nucleotide variant | NM_015473.4(HEATR5A):c.3121G>A (p.Asp1041Asn) | not specified [RCV004917577] | uncertain significance | 14 | 31344003 | 31344003 | Human | | name |
| 597711677 | CV3679327 | single nucleotide variant | NM_015473.4(HEATR5A):c.4949A>C (p.Lys1650Thr) | not specified [RCV004917579] | uncertain significance | 14 | 31306749 | 31306749 | Human | | name |
| 597711698 | CV3679329 | single nucleotide variant | NM_015473.4(HEATR5A):c.3047C>T (p.Pro1016Leu) | not specified [RCV004917581] | uncertain significance | 14 | 31345098 | 31345098 | Human | | name |
| 597711709 | CV3679330 | single nucleotide variant | NM_015473.4(HEATR5A):c.4697G>C (p.Ser1566Thr) | not specified [RCV004917582] | uncertain significance | 14 | 31308014 | 31308014 | Human | | name |
| 597781933 | CV3679333 | single nucleotide variant | NM_015473.4(HEATR5A):c.3914C>G (p.Thr1305Ser) | not specified [RCV004931025] | uncertain significance | 14 | 31321554 | 31321554 | Human | | name |
| 597711742 | CV3679334 | single nucleotide variant | NM_015473.4(HEATR5A):c.5251A>T (p.Ile1751Phe) | not specified [RCV004917585] | uncertain significance | 14 | 31302508 | 31302508 | Human | | name |
| 598266779 | CV3967853 | single nucleotide variant | NM_015473.4(HEATR5A):c.3170A>G (p.Gln1057Arg) | not specified [RCV005349355] | uncertain significance | 14 | 31343954 | 31343954 | Human | | name |
| 598266783 | CV3967854 | single nucleotide variant | NM_015473.4(HEATR5A):c.4291G>A (p.Gly1431Ser) | not specified [RCV005349356] | likely benign | 14 | 31313118 | 31313118 | Human | | name |
| 598266804 | CV3967860 | single nucleotide variant | NM_015473.4(HEATR5A):c.5602G>A (p.Glu1868Lys) | not specified [RCV005349361] | uncertain significance | 14 | 31295926 | 31295926 | Human | | name |
| 598247055 | CV3967863 | single nucleotide variant | NM_015473.4(HEATR5A):c.3631C>T (p.Arg1211Cys) | not specified [RCV005345243] | uncertain significance | 14 | 31323721 | 31323721 | Human | | name |
| 598266812 | CV3967865 | single nucleotide variant | NM_015473.4(HEATR5A):c.4654G>A (p.Glu1552Lys) | not specified [RCV005349363] | uncertain significance | 14 | 31308970 | 31308970 | Human | | name |
| 598266821 | CV3967869 | single nucleotide variant | NM_015473.4(HEATR5A):c.5258C>G (p.Pro1753Arg) | not specified [RCV005349365] | uncertain significance | 14 | 31302501 | 31302501 | Human | | name |
| 598266825 | CV3967870 | single nucleotide variant | NM_015473.4(HEATR5A):c.4669G>A (p.Asp1557Asn) | not specified [RCV005349366] | uncertain significance | 14 | 31308955 | 31308955 | Human | | name |
| 598266830 | CV3967871 | single nucleotide variant | NM_015473.4(HEATR5A):c.4543A>G (p.Thr1515Ala) | not specified [RCV005349367] | uncertain significance | 14 | 31309081 | 31309081 | Human | | name |
| 598266843 | CV3967874 | single nucleotide variant | NM_015473.4(HEATR5A):c.4987A>G (p.Lys1663Glu) | not specified [RCV005349370] | uncertain significance | 14 | 31305157 | 31305157 | Human | | name |
| 598247077 | CV3967875 | single nucleotide variant | NM_015473.4(HEATR5A):c.3332T>G (p.Met1111Arg) | not specified [RCV005345247] | uncertain significance | 14 | 31337511 | 31337511 | Human | | name |
| 598266847 | CV3967876 | single nucleotide variant | NM_015473.4(HEATR5A):c.4325T>A (p.Leu1442Gln) | not specified [RCV005349371] | uncertain significance | 14 | 31313084 | 31313084 | Human | | name |
| 598266852 | CV3967878 | single nucleotide variant | NM_015473.4(HEATR5A):c.4696A>G (p.Ser1566Gly) | not specified [RCV005349372] | uncertain significance | 14 | 31308015 | 31308015 | Human | | name |
| 8635206 | CV90428 | single nucleotide variant | NM_015473.4(HEATR5A):c.4955G>A (p.Arg1652Gln) | not specified [RCV004917569] | uncertain significance|not provided | 14 | 31306743 | 31306743 | Human | | name |