| 156398591 | CV2194667 | single nucleotide variant | NM_198276.3(TMEM17):c.15T>A (p.Asp5Glu) | not specified [RCV004082067] | uncertain significance | 2 | 62506115 | 62506115 | Human | | name |
| 329375436 | CV2440922 | single nucleotide variant | NM_198276.3(TMEM17):c.68A>T (p.Asn23Ile) | not specified [RCV004261312] | uncertain significance | 2 | 62506062 | 62506062 | Human | | name |
| 156166890 | CV2315266 | single nucleotide variant | NM_198276.3(TMEM17):c.163C>A (p.Pro55Thr) | not specified [RCV004167255] | uncertain significance | 2 | 62502732 | 62502732 | Human | | name |
| 401862914 | CV2779074 | single nucleotide variant | NM_198276.3(TMEM17):c.116C>T (p.Ser39Phe) | not specified [RCV004348709] | uncertain significance | 2 | 62502779 | 62502779 | Human | | name |
| 405794772 | CV3336077 | single nucleotide variant | NM_198276.3(TMEM17):c.280C>T (p.Arg94Trp) | Meckel-Gruber syndrome [RCV005255514]|not specified [RCV004475322] | likely pathogenic|uncertain significance | 2 | 62502475 | 62502475 | Human | 1 | name |
| 156281010 | CV2206463 | single nucleotide variant | NM_198276.3(TMEM17):c.340T>C (p.Trp114Arg) | not specified [RCV004078777] | uncertain significance | 2 | 62501466 | 62501466 | Human | | name |
| 156182230 | CV2255197 | single nucleotide variant | NM_198276.3(TMEM17):c.370T>A (p.Leu124Ile) | not specified [RCV004115807] | uncertain significance | 2 | 62501436 | 62501436 | Human | | name |
| 155982717 | CV2337197 | single nucleotide variant | NM_198276.3(TMEM17):c.514C>T (p.Arg172Cys) | not specified [RCV004192952] | uncertain significance | 2 | 62501292 | 62501292 | Human | | name |
| 156265844 | CV2372318 | single nucleotide variant | NM_198276.3(TMEM17):c.530A>G (p.Asp177Gly) | not specified [RCV004217091] | uncertain significance | 2 | 62501276 | 62501276 | Human | | name |
| 155903131 | CV2386436 | single nucleotide variant | NM_198276.3(TMEM17):c.514C>A (p.Arg172Ser) | not specified [RCV004228761] | uncertain significance | 2 | 62501292 | 62501292 | Human | | name |
| 156199047 | CV2392225 | single nucleotide variant | NM_198276.3(TMEM17):c.538C>T (p.Arg180Trp) | not specified [RCV004243836] | uncertain significance | 2 | 62501268 | 62501268 | Human | | name |
| 401885570 | CV2778150 | single nucleotide variant | NM_198276.3(TMEM17):c.539G>A (p.Arg180Gln) | not specified [RCV004348087] | uncertain significance | 2 | 62501267 | 62501267 | Human | | name |
| 405794775 | CV3336078 | single nucleotide variant | NM_198276.3(TMEM17):c.515G>A (p.Arg172His) | not specified [RCV004475323] | uncertain significance | 2 | 62501291 | 62501291 | Human | | name |
| 597795215 | CV3613507 | single nucleotide variant | NM_198276.3(TMEM17):c.326A>C (p.Glu109Ala) | not specified [RCV004878140] | uncertain significance | 2 | 62501480 | 62501480 | Human | | name |
| 598213334 | CV3917471 | single nucleotide variant | NM_198276.3(TMEM17):c.298G>A (p.Val100Met) | not specified [RCV005292297] | likely benign | 2 | 62502457 | 62502457 | Human | | name |
| 598213338 | CV3917472 | single nucleotide variant | NM_198276.3(TMEM17):c.352C>T (p.Leu118Phe) | not specified [RCV005292298] | uncertain significance | 2 | 62501454 | 62501454 | Human | | name |
| 13704995 | CV539966 | single nucleotide variant | NM_198276.3(TMEM17):c.306C>A (p.Asn102Lys) | Orofaciodigital syndrome I [RCV000664048] | uncertain significance | 2 | 62502449 | 62502449 | Human | 1 | name |
| 34891665 | CV906233 | single nucleotide variant | NM_198276.3(TMEM17):c.302G>T (p.Gly101Val) | Joubert syndrome [RCV001175227] | uncertain significance | 2 | 62502453 | 62502453 | Human | 1 | name |
| 8590472 | CV125164 | single nucleotide variant | NM_001195278.1(TMEM178B):c.634+391A>T | Lung cancer [RCV000105683] | uncertain significance | 7 | 141438136 | 141438136 | Human | | name |
| 8590470 | CV125162 | single nucleotide variant | NM_001195278.1(TMEM178B):c.383-1547T>A | Lung cancer [RCV000105681] | uncertain significance | 7 | 141211044 | 141211044 | Human | | name |
| 8590469 | CV125161 | single nucleotide variant | NM_001195278.1(TMEM178B):c.383-35225A>G | Lung cancer [RCV000105680] | uncertain significance | 7 | 141177366 | 141177366 | Human | | name |
| 8577172 | CV111543 | single nucleotide variant | NM_001167959.1(TMEM178A):c.-147+10774G>T | Lung cancer [RCV000092066] | uncertain significance | 2 | 39676414 | 39676414 | Human | | name |
| 405290849 | CV3197187 | single nucleotide variant | NM_032326.4(TMEM175):c.450T>C (p.Ile150=) | TMEM175-related disorder [RCV003984750] | benign | 4 | 952438 | 952438 | Human | | name , trait , alternate_id |
| 405281579 | CV3213554 | single nucleotide variant | NM_032326.4(TMEM175):c.1240C>T (p.Arg414Trp) | TMEM175-related disorder [RCV003907362] | likely benign | 4 | 958221 | 958221 | Human | | name , trait , alternate_id |
| 15182173 | CV734775 | single nucleotide variant | NM_032326.4(TMEM175):c.864C>T (p.Pro288=) | TMEM175-related disorder [RCV003977942]|not provided [RCV000907758] | benign|likely benign | 4 | 957845 | 957845 | Human | | name , trait , alternate_id |
| 401857133 | CV2758545 | single nucleotide variant | NM_032326.4(TMEM175):c.5C>G (p.Ser2Cys) | not specified [RCV004337635] | uncertain significance | 4 | 947744 | 947744 | Human | | name |
| 329385755 | CV2462288 | single nucleotide variant | NM_145254.3(TMEM170A):c.7C>T (p.Arg3Cys) | not specified [RCV004266280] | uncertain significance | 16 | 75464594 | 75464594 | Human | | name |
| 329391955 | CV2470220 | single nucleotide variant | NM_153217.3(TMEM174):c.16G>A (p.Gly6Ser) | not specified [RCV004279632] | likely benign | 5 | 73173259 | 73173259 | Human | | name |
| 401751798 | CV2727147 | single nucleotide variant | NM_030577.3(TMEM177):c.19C>T (p.Arg7Trp) | not specified [RCV004325505] | uncertain significance | 2 | 119680872 | 119680872 | Human | | name |
| 405794782 | CV3336080 | single nucleotide variant | NM_145254.3(TMEM170A):c.4G>A (p.Glu2Lys) | not specified [RCV004475325] | uncertain significance | 16 | 75464597 | 75464597 | Human | | name |
| 405794840 | CV3336098 | single nucleotide variant | NM_032326.4(TMEM175):c.14G>A (p.Arg5Gln) | not specified [RCV004475343] | likely benign | 4 | 947753 | 947753 | Human | | name |
| 597753333 | CV3613531 | single nucleotide variant | NM_032326.4(TMEM175):c.16A>G (p.Thr6Ala) | not specified [RCV004867344] | uncertain significance | 4 | 947755 | 947755 | Human | | name |
| 597753391 | CV3613543 | single nucleotide variant | NM_030577.3(TMEM177):c.20G>A (p.Arg7Gln) | not specified [RCV004867356] | uncertain significance | 2 | 119680873 | 119680873 | Human | | name |
| 598213385 | CV3917484 | single nucleotide variant | NM_032326.4(TMEM175):c.10C>T (p.Pro4Ser) | not specified [RCV005292307] | uncertain significance | 4 | 947749 | 947749 | Human | | name |
| 598178490 | CV3917505 | single nucleotide variant | NM_199337.3(TMEM179B):c.4G>C (p.Ala2Pro) | not specified [RCV005285984] | uncertain significance | 11 | 62787435 | 62787435 | Human | | name |
| 156015731 | CV2360317 | single nucleotide variant | NM_032326.4(TMEM175):c.63G>C (p.Arg21Ser) | not specified [RCV004208655] | uncertain significance | 4 | 947802 | 947802 | Human | | name |
| 156386929 | CV2364890 | single nucleotide variant | NM_032326.4(TMEM175):c.76G>A (p.Ala26Thr) | not specified [RCV004221792] | uncertain significance | 4 | 947815 | 947815 | Human | | name |
| 329361800 | CV2468325 | single nucleotide variant | NM_173490.8(TMEM171):c.96G>T (p.Leu32Phe) | not specified [RCV004275874] | uncertain significance | 5 | 73123469 | 73123469 | Human | | name |
| 401758379 | CV2704471 | single nucleotide variant | NM_032326.4(TMEM175):c.49T>G (p.Cys17Gly) | not specified [RCV004313216] | uncertain significance | 4 | 947788 | 947788 | Human | | name |
| 401776061 | CV2706867 | single nucleotide variant | NM_030577.3(TMEM177):c.92C>T (p.Pro31Leu) | not provided [RCV004696462]|not specified [RCV004321493] | uncertain significance | 2 | 119680945 | 119680945 | Human | | name |
| 401782744 | CV2715957 | single nucleotide variant | NM_199337.3(TMEM179B):c.22C>A (p.Arg8Ser) | not specified [RCV004329353] | uncertain significance | 11 | 62787453 | 62787453 | Human | | name |
| 407453397 | CV3486436 | single nucleotide variant | NM_145254.3(TMEM170A):c.19G>A (p.Gly7Ser) | not specified [RCV004684530] | uncertain significance | 16 | 75464582 | 75464582 | Human | | name |
| 407453406 | CV3486440 | single nucleotide variant | NM_173490.8(TMEM171):c.77T>G (p.Phe26Cys) | not specified [RCV004684533] | uncertain significance | 5 | 73123450 | 73123450 | Human | | name |
| 407453409 | CV3486441 | single nucleotide variant | NM_153217.3(TMEM174):c.67C>T (p.Pro23Ser) | not specified [RCV004684534] | uncertain significance | 5 | 73173310 | 73173310 | Human | | name |
| 15176432 | CV709993 | single nucleotide variant | NM_173490.8(TMEM171):c.459A>G (p.Ser153=) | not provided [RCV000973185] | benign | 5 | 73123832 | 73123832 | Human | | name |
| 150339931 | CV1168022 | single nucleotide variant | NM_032326.4(TMEM175):c.194A>C (p.Gln65Pro) | not provided [RCV001534761] | benign | 4 | 950422 | 950422 | Human | 2 | name |
| 156267730 | CV2198844 | single nucleotide variant | NM_173490.8(TMEM171):c.257G>T (p.Arg86Leu) | not specified [RCV004077881] | uncertain significance | 5 | 73123630 | 73123630 | Human | | name |
| 156377819 | CV2207560 | single nucleotide variant | NM_032326.4(TMEM175):c.173C>T (p.Thr58Met) | not specified [RCV004090351] | uncertain significance | 4 | 948135 | 948135 | Human | | name |
| 156152075 | CV2245267 | single nucleotide variant | NM_153217.3(TMEM174):c.107C>T (p.Ala36Val) | not specified [RCV004107033] | uncertain significance | 5 | 73173350 | 73173350 | Human | | name |
| 155979774 | CV2263577 | single nucleotide variant | NM_173490.8(TMEM171):c.130T>C (p.Phe44Leu) | not specified [RCV004133800] | uncertain significance | 5 | 73123503 | 73123503 | Human | | name |
| 155918715 | CV2279276 | single nucleotide variant | NM_030577.3(TMEM177):c.292C>A (p.Leu98Ile) | not specified [RCV004139797] | uncertain significance | 2 | 119681145 | 119681145 | Human | | name |
| 156283910 | CV2288940 | single nucleotide variant | NM_153217.3(TMEM174):c.229G>A (p.Val77Ile) | not specified [RCV004149907] | likely benign | 5 | 73173472 | 73173472 | Human | | name |
| 156188203 | CV2302843 | single nucleotide variant | NM_173490.8(TMEM171):c.296G>T (p.Arg99Leu) | not specified [RCV004162743] | uncertain significance | 5 | 73123669 | 73123669 | Human | | name |
| 156357755 | CV2318358 | single nucleotide variant | NM_199337.3(TMEM179B):c.37C>G (p.Leu13Val) | not specified [RCV004179520] | uncertain significance | 11 | 62787468 | 62787468 | Human | | name |
| 156289183 | CV2333078 | single nucleotide variant | NM_173490.8(TMEM171):c.266T>C (p.Leu89Pro) | not specified [RCV004194373] | uncertain significance | 5 | 73123639 | 73123639 | Human | | name |
| 156185457 | CV2335853 | single nucleotide variant | NM_145254.3(TMEM170A):c.97C>G (p.Leu33Val) | not specified [RCV004196078] | uncertain significance | 16 | 75464504 | 75464504 | Human | | name |
| 155968492 | CV2339319 | single nucleotide variant | NM_032326.4(TMEM175):c.259A>C (p.Ile87Leu) | not specified [RCV004191551] | uncertain significance | 4 | 950487 | 950487 | Human | | name |
| 156135280 | CV2347216 | single nucleotide variant | NM_032326.4(TMEM175):c.238G>A (p.Val80Ile) | not specified [RCV004204686] | uncertain significance | 4 | 950466 | 950466 | Human | | name |
| 156192554 | CV2356985 | single nucleotide variant | NM_173490.8(TMEM171):c.179A>G (p.Lys60Arg) | not specified [RCV004204350] | uncertain significance | 5 | 73123552 | 73123552 | Human | | name |
| 156384684 | CV2371553 | single nucleotide variant | NM_145254.3(TMEM170A):c.91G>A (p.Gly31Arg) | not specified [RCV004216802] | uncertain significance | 16 | 75464510 | 75464510 | Human | | name |
| 156064156 | CV2375945 | single nucleotide variant | NM_199337.3(TMEM179B):c.31C>G (p.Leu11Val) | not specified [RCV004218153] | uncertain significance | 11 | 62787462 | 62787462 | Human | | name |
| 156106985 | CV2387111 | single nucleotide variant | NM_032326.4(TMEM175):c.268G>A (p.Val90Met) | not specified [RCV004226846] | uncertain significance | 4 | 950496 | 950496 | Human | | name |
| 329399275 | CV2436532 | single nucleotide variant | NM_030577.3(TMEM177):c.105C>A (p.His35Gln) | not specified [RCV004253693] | uncertain significance | 2 | 119680958 | 119680958 | Human | | name |
| 329386457 | CV2456021 | single nucleotide variant | NM_153217.3(TMEM174):c.283A>G (p.Met95Val) | not specified [RCV004272926] | uncertain significance | 5 | 73173526 | 73173526 | Human | | name |
| 401779643 | CV2676640 | single nucleotide variant | NM_173490.8(TMEM171):c.121A>T (p.Ile41Phe) | not specified [RCV004282599] | uncertain significance | 5 | 73123494 | 73123494 | Human | | name |
| 401862613 | CV2762269 | single nucleotide variant | NM_030577.3(TMEM177):c.286C>T (p.Pro96Ser) | not specified [RCV004335391] | uncertain significance | 2 | 119681139 | 119681139 | Human | | name |
| 401892695 | CV2791674 | single nucleotide variant | NM_018487.3(TMEM176A):c.92A>G (p.Lys31Arg) | not specified [RCV004353016] | uncertain significance | 7 | 150801642 | 150801642 | Human | | name |
| 401928037 | CV2822297 | single nucleotide variant | NM_032326.4(TMEM175):c.1362C>G (p.Ala454=) | not provided [RCV003439190] | likely benign | 4 | 958343 | 958343 | Human | | name |
| 405794789 | CV3336082 | single nucleotide variant | NM_173490.8(TMEM171):c.119C>T (p.Ser40Phe) | not specified [RCV004475327] | uncertain significance | 5 | 73123492 | 73123492 | Human | | name |
| 405794792 | CV3336083 | single nucleotide variant | NM_173490.8(TMEM171):c.184G>T (p.Ala62Ser) | not specified [RCV004475328] | uncertain significance | 5 | 73123557 | 73123557 | Human | | name |
| 405794795 | CV3336084 | single nucleotide variant | NM_173490.8(TMEM171):c.269A>T (p.Gln90Leu) | not specified [RCV004475329] | likely benign | 5 | 73123642 | 73123642 | Human | | name |
| 405794893 | CV3336114 | single nucleotide variant | NM_030577.3(TMEM177):c.262T>C (p.Phe88Leu) | not specified [RCV004475359] | uncertain significance | 2 | 119681115 | 119681115 | Human | | name |
| 405794948 | CV3336131 | single nucleotide variant | NM_199337.3(TMEM179B):c.34G>C (p.Ala12Pro) | not specified [RCV004475376] | uncertain significance | 11 | 62787465 | 62787465 | Human | | name |
| 407453399 | CV3486437 | single nucleotide variant | NM_145254.3(TMEM170A):c.50A>G (p.Gln17Arg) | not specified [RCV004684531] | uncertain significance | 16 | 75464551 | 75464551 | Human | | name |
| 407453412 | CV3486442 | single nucleotide variant | NM_153217.3(TMEM174):c.199C>T (p.His67Tyr) | not specified [RCV004684535] | uncertain significance | 5 | 73173442 | 73173442 | Human | | name |
| 407453421 | CV3486445 | single nucleotide variant | NM_032326.4(TMEM175):c.229C>T (p.Arg77Trp) | not specified [RCV004684538] | uncertain significance | 4 | 950457 | 950457 | Human | | name |
| 407453481 | CV3486465 | single nucleotide variant | NM_199337.3(TMEM179B):c.70G>A (p.Ala24Thr) | not specified [RCV004684558] | uncertain significance | 11 | 62787501 | 62787501 | Human | | name |
| 407453491 | CV3486467 | single nucleotide variant | NM_199337.3(TMEM179B):c.56T>C (p.Leu19Pro) | not specified [RCV004684560] | uncertain significance | 11 | 62787487 | 62787487 | Human | | name |
| 597753229 | CV3613510 | single nucleotide variant | NM_145254.3(TMEM170A):c.95C>T (p.Thr32Ile) | not specified [RCV004867325] | uncertain significance | 16 | 75464506 | 75464506 | Human | | name |
| 597753234 | CV3613511 | single nucleotide variant | NM_145254.3(TMEM170A):c.89A>G (p.Asn30Ser) | not specified [RCV004867326] | uncertain significance | 16 | 75464512 | 75464512 | Human | | name |
| 597753257 | CV3613515 | single nucleotide variant | NM_173490.8(TMEM171):c.139T>A (p.Cys47Ser) | not specified [RCV004867330] | uncertain significance | 5 | 73123512 | 73123512 | Human | | name |
| 597753283 | CV3613521 | single nucleotide variant | NM_153217.3(TMEM174):c.130G>A (p.Gly44Ser) | not specified [RCV004867335] | uncertain significance | 5 | 73173373 | 73173373 | Human | | name |
| 597753311 | CV3613527 | single nucleotide variant | NM_032326.4(TMEM175):c.104G>A (p.Arg35His) | not specified [RCV004867340] | uncertain significance | 4 | 947843 | 947843 | Human | | name |
| 597753413 | CV3613548 | single nucleotide variant | NM_152390.3(TMEM178A):c.98A>C (p.Glu33Ala) | not specified [RCV004867361] | uncertain significance | 2 | 39666072 | 39666072 | Human | | name |
| 598178436 | CV3917485 | single nucleotide variant | NM_032326.4(TMEM175):c.113G>A (p.Ser38Asn) | not specified [RCV005285976] | likely benign | 4 | 947852 | 947852 | Human | | name |
| 598213396 | CV3917487 | single nucleotide variant | NM_032326.4(TMEM175):c.223G>A (p.Ala75Thr) | not specified [RCV005292309] | uncertain significance | 4 | 950451 | 950451 | Human | | name |
| 598178443 | CV3917488 | single nucleotide variant | NM_018487.3(TMEM176A):c.73C>A (p.Gln25Lys) | not specified [RCV005285977] | uncertain significance | 7 | 150801623 | 150801623 | Human | | name |
| 598178465 | CV3917492 | single nucleotide variant | NM_018487.3(TMEM176A):c.77A>G (p.Glu26Gly) | not specified [RCV005285980] | uncertain significance | 7 | 150801627 | 150801627 | Human | | name |
| 8631692 | CV86896 | single nucleotide variant | NM_153217.2(TMEM174):c.176G>A (p.Trp59Ter) | Malignant melanoma [RCV000066987] | not provided | 5 | 73173419 | 73173419 | Human | | name |
| 155965362 | CV2206432 | single nucleotide variant | NM_152390.3(TMEM178A):c.256G>A (p.Asp86Asn) | not specified [RCV004078752] | uncertain significance | 2 | 39666230 | 39666230 | Human | | name |
| 156401296 | CV2210855 | single nucleotide variant | NM_030577.3(TMEM177):c.928C>T (p.Arg310Cys) | not specified [RCV004085942] | uncertain significance | 2 | 119681781 | 119681781 | Human | | name |
| 156255923 | CV2219707 | single nucleotide variant | NM_145254.3(TMEM170A):c.103C>G (p.Pro35Ala) | not specified [RCV004095414] | uncertain significance | 16 | 75464498 | 75464498 | Human | | name |
| 156120054 | CV2233596 | single nucleotide variant | NM_173490.8(TMEM171):c.466C>G (p.Arg156Gly) | not specified [RCV004100066] | uncertain significance | 5 | 73123839 | 73123839 | Human | | name |
| 156034050 | CV2236455 | single nucleotide variant | NM_173490.8(TMEM171):c.314A>C (p.Glu105Ala) | not specified [RCV004108124] | uncertain significance | 5 | 73123687 | 73123687 | Human | | name |
| 156064199 | CV2240209 | single nucleotide variant | NM_030577.3(TMEM177):c.722C>T (p.Ala241Val) | not specified [RCV004112786] | uncertain significance | 2 | 119681575 | 119681575 | Human | | name |
| 156234118 | CV2245319 | single nucleotide variant | NM_173490.8(TMEM171):c.647C>T (p.Ser216Leu) | not specified [RCV004107073] | uncertain significance | 5 | 73128396 | 73128396 | Human | | name |
| 155976589 | CV2246012 | single nucleotide variant | NM_032326.4(TMEM175):c.844G>A (p.Glu282Lys) | not specified [RCV004113930] | uncertain significance | 4 | 957825 | 957825 | Human | | name |
| 155961061 | CV2249583 | single nucleotide variant | NM_030577.3(TMEM177):c.886G>A (p.Asp296Asn) | not specified [RCV004120602] | uncertain significance | 2 | 119681739 | 119681739 | Human | | name |
| 155964001 | CV2261558 | single nucleotide variant | NM_173490.8(TMEM171):c.416A>T (p.Asn139Ile) | not specified [RCV004125893] | uncertain significance | 5 | 73123789 | 73123789 | Human | | name |
| 156361118 | CV2269172 | single nucleotide variant | NM_032326.4(TMEM175):c.823C>T (p.Leu275Phe) | not specified [RCV004130337] | uncertain significance | 4 | 955871 | 955871 | Human | | name |
| 156097343 | CV2294450 | single nucleotide variant | NM_199337.3(TMEM179B):c.169C>T (p.Pro57Ser) | not specified [RCV004159952] | uncertain significance | 11 | 62789095 | 62789095 | Human | | name |
| 156281292 | CV2295104 | single nucleotide variant | NM_173490.8(TMEM171):c.449C>T (p.Thr150Ile) | not specified [RCV004156208] | uncertain significance | 5 | 73123822 | 73123822 | Human | | name |
| 156288929 | CV2299265 | single nucleotide variant | NM_173490.8(TMEM171):c.382G>A (p.Val128Ile) | not specified [RCV004152593] | likely benign | 5 | 73123755 | 73123755 | Human | | name |
| 156006702 | CV2299605 | single nucleotide variant | NM_032326.4(TMEM175):c.853G>A (p.Val285Ile) | not specified [RCV004154925] | uncertain significance | 4 | 957834 | 957834 | Human | | name |
| 156164011 | CV2305547 | single nucleotide variant | NM_032326.4(TMEM175):c.925C>T (p.Arg309Cys) | not specified [RCV004165247] | uncertain significance | 4 | 957906 | 957906 | Human | | name |
| 156276181 | CV2318474 | single nucleotide variant | NM_145254.3(TMEM170A):c.230A>G (p.Lys77Arg) | not specified [RCV004173120] | uncertain significance | 16 | 75451743 | 75451743 | Human | | name |
| 156035162 | CV2338869 | single nucleotide variant | NM_032326.4(TMEM175):c.943G>A (p.Gly315Ser) | not specified [RCV004184464] | uncertain significance | 4 | 957924 | 957924 | Human | | name |
| 155979756 | CV2339196 | single nucleotide variant | NM_018487.3(TMEM176A):c.122G>A (p.Arg41Gln) | not specified [RCV004191441] | likely benign | 7 | 150801672 | 150801672 | Human | | name |
| 156330156 | CV2339435 | single nucleotide variant | NM_153217.3(TMEM174):c.305A>G (p.Lys102Arg) | not specified [RCV004194105] | uncertain significance | 5 | 73173548 | 73173548 | Human | | name |
| 156182242 | CV2353140 | single nucleotide variant | NM_032326.4(TMEM175):c.649G>A (p.Val217Ile) | not specified [RCV004203618] | uncertain significance | 4 | 955426 | 955426 | Human | | name |
| 156182637 | CV2353169 | single nucleotide variant | NM_199337.3(TMEM179B):c.286G>C (p.Gly96Arg) | not specified [RCV004203641] | uncertain significance | 11 | 62789293 | 62789293 | Human | | name |
| 156142184 | CV2358470 | single nucleotide variant | NM_032326.4(TMEM175):c.313A>G (p.Thr105Ala) | not specified [RCV004207361] | uncertain significance | 4 | 951229 | 951229 | Human | | name |
| 156199126 | CV2362841 | single nucleotide variant | NM_030577.3(TMEM177):c.488G>C (p.Ser163Thr) | not specified [RCV004208953] | uncertain significance | 2 | 119681341 | 119681341 | Human | | name |
| 155935502 | CV2371812 | single nucleotide variant | NM_153217.3(TMEM174):c.701C>A (p.Pro234His) | not specified [RCV004219468] | uncertain significance | 5 | 73174134 | 73174134 | Human | | name |
| 156130447 | CV2372626 | single nucleotide variant | NM_153217.3(TMEM174):c.638A>T (p.Asp213Val) | not specified [RCV004221829] | uncertain significance | 5 | 73174071 | 73174071 | Human | | name |
| 156073184 | CV2376887 | single nucleotide variant | NM_153217.3(TMEM174):c.571T>C (p.Ser191Pro) | not specified [RCV004229584] | uncertain significance | 5 | 73173814 | 73173814 | Human | | name |
| 156388111 | CV2380104 | single nucleotide variant | NM_030577.3(TMEM177):c.553G>A (p.Val185Met) | not specified [RCV004224484] | uncertain significance | 2 | 119681406 | 119681406 | Human | | name |
| 156098373 | CV2392781 | single nucleotide variant | NM_032326.4(TMEM175):c.733G>C (p.Val245Leu) | not specified [RCV004247146] | uncertain significance | 4 | 955781 | 955781 | Human | | name |
| 156100515 | CV2392951 | single nucleotide variant | NM_032326.4(TMEM175):c.935C>A (p.Ala312Glu) | not specified [RCV004242806] | uncertain significance | 4 | 957916 | 957916 | Human | | name |
| 329400216 | CV2440759 | single nucleotide variant | NM_032326.4(TMEM175):c.913G>A (p.Ala305Thr) | not specified [RCV004258703] | uncertain significance | 4 | 957894 | 957894 | Human | | name |
| 329389163 | CV2448636 | single nucleotide variant | NM_032326.4(TMEM175):c.718C>T (p.Pro240Ser) | not specified [RCV004259306] | uncertain significance | 4 | 955766 | 955766 | Human | | name |
| 401779929 | CV2676738 | single nucleotide variant | NM_173490.8(TMEM171):c.535G>C (p.Val179Leu) | not specified [RCV004290912] | uncertain significance | 5 | 73123908 | 73123908 | Human | | name |
| 401733616 | CV2682587 | single nucleotide variant | NM_030577.3(TMEM177):c.364G>A (p.Val122Met) | not specified [RCV004292640] | uncertain significance | 2 | 119681217 | 119681217 | Human | | name |
| 401735488 | CV2687596 | single nucleotide variant | NM_153217.3(TMEM174):c.341C>T (p.Thr114Ile) | not specified [RCV004300818] | uncertain significance | 5 | 73173584 | 73173584 | Human | | name |
| 401761265 | CV2689087 | single nucleotide variant | NM_145254.3(TMEM170A):c.175C>G (p.Leu59Val) | not specified [RCV004305854] | uncertain significance | 16 | 75451798 | 75451798 | Human | | name |
| 401735771 | CV2695396 | single nucleotide variant | NM_030577.3(TMEM177):c.916C>G (p.Leu306Val) | not specified [RCV004305601] | uncertain significance | 2 | 119681769 | 119681769 | Human | | name |
| 401773201 | CV2698130 | single nucleotide variant | NM_018487.3(TMEM176A):c.127C>T (p.Arg43Trp) | not specified [RCV004302914] | uncertain significance | 7 | 150801677 | 150801677 | Human | | name |
| 401721609 | CV2710059 | single nucleotide variant | NM_152390.3(TMEM178A):c.153C>G (p.Asp51Glu) | not specified [RCV004315120] | uncertain significance | 2 | 39666127 | 39666127 | Human | | name |
| 401738787 | CV2721975 | single nucleotide variant | NM_153217.3(TMEM174):c.586G>A (p.Asp196Asn) | not specified [RCV004326469] | uncertain significance | 5 | 73173829 | 73173829 | Human | | name |
| 401881400 | CV2759402 | single nucleotide variant | NM_153217.3(TMEM174):c.632A>G (p.Asn211Ser) | not specified [RCV004338403] | likely benign | 5 | 73174065 | 73174065 | Human | | name |
| 401870452 | CV2762739 | single nucleotide variant | NM_030577.3(TMEM177):c.601C>T (p.Arg201Trp) | not specified [RCV004340296] | uncertain significance | 2 | 119681454 | 119681454 | Human | | name |
| 401889931 | CV2765089 | single nucleotide variant | NM_032326.4(TMEM175):c.578C>T (p.Pro193Leu) | not specified [RCV004337586] | uncertain significance | 4 | 953305 | 953305 | Human | | name |
| 401890820 | CV2772203 | single nucleotide variant | NM_032326.4(TMEM175):c.383C>T (p.Ser128Leu) | not specified [RCV004346848] | uncertain significance | 4 | 952371 | 952371 | Human | | name |
| 405694885 | CV3226533 | single nucleotide variant | NM_032326.4(TMEM175):c.850A>G (p.Asn284Asp) | not provided [RCV003992926] | likely benign | 4 | 957831 | 957831 | Human | | name |
| 405697680 | CV3226885 | single nucleotide variant | NM_032326.4(TMEM175):c.359T>A (p.Ile120Asn) | not provided [RCV003993279] | uncertain significance | 4 | 951698 | 951698 | Human | | name |
| 405794778 | CV3336079 | single nucleotide variant | NM_145254.3(TMEM170A):c.248C>A (p.Ser83Tyr) | not specified [RCV004475324] | uncertain significance | 16 | 75451725 | 75451725 | Human | | name |
| 405794798 | CV3336085 | single nucleotide variant | NM_173490.8(TMEM171):c.413C>G (p.Ser138Cys) | not specified [RCV004475330] | uncertain significance | 5 | 73123786 | 73123786 | Human | | name |
| 405794801 | CV3336086 | single nucleotide variant | NM_173490.8(TMEM171):c.786G>C (p.Arg262Ser) | not specified [RCV004475331] | uncertain significance | 5 | 73131541 | 73131541 | Human | | name |
| 405794804 | CV3336087 | single nucleotide variant | NM_173490.8(TMEM171):c.851C>T (p.Thr284Met) | not specified [RCV004475332] | uncertain significance | 5 | 73131606 | 73131606 | Human | | name |
| 405794808 | CV3336088 | single nucleotide variant | NM_173490.8(TMEM171):c.890C>T (p.Pro297Leu) | not specified [RCV004475333] | uncertain significance | 5 | 73131645 | 73131645 | Human | | name |
| 405794814 | CV3336090 | single nucleotide variant | NM_153217.3(TMEM174):c.428C>T (p.Pro143Leu) | not specified [RCV004475335] | uncertain significance | 5 | 73173671 | 73173671 | Human | | name |
| 405794817 | CV3336091 | single nucleotide variant | NM_153217.3(TMEM174):c.493G>A (p.Gly165Ser) | not specified [RCV004475336] | uncertain significance | 5 | 73173736 | 73173736 | Human | | name |
| 405794820 | CV3336092 | single nucleotide variant | NM_153217.3(TMEM174):c.553A>T (p.Ile185Phe) | not specified [RCV004475337] | uncertain significance | 5 | 73173796 | 73173796 | Human | | name |
| 405794843 | CV3336099 | single nucleotide variant | NM_032326.4(TMEM175):c.319G>A (p.Asp107Asn) | not specified [RCV004475344] | uncertain significance | 4 | 951235 | 951235 | Human | | name |
| 405794846 | CV3336100 | single nucleotide variant | NM_032326.4(TMEM175):c.452G>C (p.Gly151Ala) | not specified [RCV004475345] | uncertain significance | 4 | 952440 | 952440 | Human | | name |
| 405794849 | CV3336101 | single nucleotide variant | NM_032326.4(TMEM175):c.467T>C (p.Leu156Pro) | not specified [RCV004475346] | uncertain significance | 4 | 953194 | 953194 | Human | | name |
| 405794857 | CV3336103 | single nucleotide variant | NM_032326.4(TMEM175):c.976G>A (p.Ala326Thr) | not specified [RCV004475348] | uncertain significance | 4 | 957957 | 957957 | Human | | name |
| 405794860 | CV3336104 | single nucleotide variant | NM_018487.3(TMEM176A):c.232C>T (p.Arg78Cys) | not specified [RCV004475349] | uncertain significance | 7 | 150802272 | 150802272 | Human | | name |
| 405794863 | CV3336105 | single nucleotide variant | NM_018487.3(TMEM176A):c.257C>G (p.Ser86Trp) | not specified [RCV004475350] | uncertain significance | 7 | 150802297 | 150802297 | Human | | name |
| 405794899 | CV3336116 | single nucleotide variant | NM_030577.3(TMEM177):c.439C>T (p.Arg147Cys) | not specified [RCV004475361] | uncertain significance | 2 | 119681292 | 119681292 | Human | | name |
| 405794902 | CV3336117 | single nucleotide variant | NM_030577.3(TMEM177):c.674A>G (p.His225Arg) | not specified [RCV004475362] | uncertain significance | 2 | 119681527 | 119681527 | Human | | name |
| 405794904 | CV3336118 | single nucleotide variant | NM_030577.3(TMEM177):c.883C>T (p.Arg295Trp) | not specified [RCV004475363] | uncertain significance | 2 | 119681736 | 119681736 | Human | | name |
| 405794913 | CV3336120 | single nucleotide variant | NM_152390.3(TMEM178A):c.173G>T (p.Arg58Leu) | not specified [RCV004475365] | uncertain significance | 2 | 39666147 | 39666147 | Human | | name |
| 405794941 | CV3336129 | single nucleotide variant | NM_001195278.2(TMEM178B):c.8C>T (p.Ala3Val) | not specified [RCV004475374] | uncertain significance | 7 | 141074318 | 141074318 | Human | | name |
| 405794944 | CV3336130 | single nucleotide variant | NM_199337.3(TMEM179B):c.269T>C (p.Ile90Thr) | not specified [RCV004475375] | uncertain significance | 11 | 62789195 | 62789195 | Human | | name |
| 407453402 | CV3486439 | single nucleotide variant | NM_173490.8(TMEM171):c.834A>G (p.Ile278Met) | not specified [RCV004684532] | uncertain significance | 5 | 73131589 | 73131589 | Human | | name |
| 407453425 | CV3486446 | single nucleotide variant | NM_032326.4(TMEM175):c.952G>A (p.Ala318Thr) | not specified [RCV004684539] | uncertain significance | 4 | 957933 | 957933 | Human | | name |
| 407453429 | CV3486448 | single nucleotide variant | NM_032326.4(TMEM175):c.925C>G (p.Arg309Gly) | not specified [RCV004684541] | uncertain significance | 4 | 957906 | 957906 | Human | | name |
| 407453432 | CV3486449 | single nucleotide variant | NM_032326.4(TMEM175):c.464C>T (p.Ala155Val) | not specified [RCV004684542] | uncertain significance | 4 | 953191 | 953191 | Human | | name |
| 407453448 | CV3486454 | single nucleotide variant | NM_030577.3(TMEM177):c.587G>A (p.Gly196Asp) | not specified [RCV004684547] | uncertain significance | 2 | 119681440 | 119681440 | Human | | name |
| 407453450 | CV3486455 | single nucleotide variant | NM_030577.3(TMEM177):c.781C>T (p.Arg261Cys) | not specified [RCV004684548] | uncertain significance | 2 | 119681634 | 119681634 | Human | | name |
| 407453453 | CV3486456 | single nucleotide variant | NM_030577.3(TMEM177):c.677C>T (p.Ala226Val) | not specified [RCV004684549] | uncertain significance | 2 | 119681530 | 119681530 | Human | | name |
| 407453456 | CV3486457 | single nucleotide variant | NM_152390.3(TMEM178A):c.121G>C (p.Glu41Gln) | not specified [RCV004684550] | uncertain significance | 2 | 39666095 | 39666095 | Human | | name |
| 407453459 | CV3486458 | single nucleotide variant | NM_152390.3(TMEM178A):c.211C>T (p.Pro71Ser) | not specified [RCV004684551] | uncertain significance | 2 | 39666185 | 39666185 | Human | | name |
| 407453477 | CV3486464 | single nucleotide variant | NM_199337.3(TMEM179B):c.271G>A (p.Glu91Lys) | not specified [RCV004684557] | uncertain significance | 11 | 62789197 | 62789197 | Human | | name |
| 597753239 | CV3613512 | single nucleotide variant | NM_145254.3(TMEM170A):c.269G>C (p.Gly90Ala) | not specified [RCV004867327] | uncertain significance | 16 | 75451704 | 75451704 | Human | | name |
| 597753262 | CV3613516 | single nucleotide variant | NM_173490.8(TMEM171):c.340A>C (p.Ile114Leu) | not specified [RCV004867331] | uncertain significance | 5 | 73123713 | 73123713 | Human | | name |
| 597753268 | CV3613517 | single nucleotide variant | NM_153217.3(TMEM174):c.620A>G (p.Asn207Ser) | not specified [RCV004867332] | uncertain significance | 5 | 73173863 | 73173863 | Human | | name |
| 597795218 | CV3613519 | single nucleotide variant | NM_153217.3(TMEM174):c.728G>A (p.Arg243His) | not specified [RCV004878141] | uncertain significance | 5 | 73174161 | 73174161 | Human | | name |
| 597753278 | CV3613520 | single nucleotide variant | NM_153217.3(TMEM174):c.721C>T (p.Leu241Phe) | not specified [RCV004867334] | uncertain significance | 5 | 73174154 | 73174154 | Human | | name |
| 597753290 | CV3613522 | single nucleotide variant | NM_153217.3(TMEM174):c.527T>C (p.Met176Thr) | not specified [RCV004867336] | likely benign | 5 | 73173770 | 73173770 | Human | | name |
| 597753295 | CV3613523 | single nucleotide variant | NM_153217.3(TMEM174):c.602C>T (p.Ser201Phe) | not specified [RCV004867337] | uncertain significance | 5 | 73173845 | 73173845 | Human | | name |
| 597753323 | CV3613529 | single nucleotide variant | NM_032326.4(TMEM175):c.620T>C (p.Val207Ala) | not specified [RCV004867342] | uncertain significance | 4 | 953347 | 953347 | Human | | name |
| 597753340 | CV3613532 | single nucleotide variant | NM_032326.4(TMEM175):c.862C>T (p.Pro288Ser) | not specified [RCV004867345] | uncertain significance | 4 | 957843 | 957843 | Human | | name |
| 597753356 | CV3613535 | single nucleotide variant | NM_032326.4(TMEM175):c.610C>T (p.Leu204Phe) | not specified [RCV004867348] | uncertain significance | 4 | 953337 | 953337 | Human | | name |
| 597753361 | CV3613536 | single nucleotide variant | NM_032326.4(TMEM175):c.568C>A (p.Leu190Ile) | not specified [RCV004867349] | uncertain significance | 4 | 953295 | 953295 | Human | | name |
| 597753379 | CV3613540 | single nucleotide variant | NM_030577.3(TMEM177):c.656C>T (p.Ser219Phe) | not specified [RCV004867353] | uncertain significance | 2 | 119681509 | 119681509 | Human | | name |
| 597753383 | CV3613541 | single nucleotide variant | NM_030577.3(TMEM177):c.881G>A (p.Arg294His) | not specified [RCV004867354] | uncertain significance | 2 | 119681734 | 119681734 | Human | | name |
| 597753387 | CV3613542 | single nucleotide variant | NM_030577.3(TMEM177):c.434T>C (p.Leu145Ser) | not specified [RCV004867355] | uncertain significance | 2 | 119681287 | 119681287 | Human | | name |
| 597753401 | CV3613545 | single nucleotide variant | NM_152390.3(TMEM178A):c.110G>T (p.Arg37Leu) | not specified [RCV004867358] | uncertain significance | 2 | 39666084 | 39666084 | Human | | name |
| 597753409 | CV3613547 | single nucleotide variant | NM_152390.3(TMEM178A):c.101C>T (p.Thr34Ile) | not specified [RCV004867360] | uncertain significance | 2 | 39666075 | 39666075 | Human | | name |
| 597753431 | CV3613553 | single nucleotide variant | NM_199337.3(TMEM179B):c.270C>G (p.Ile90Met) | not specified [RCV004867365] | uncertain significance | 11 | 62789196 | 62789196 | Human | | name |
| 597753451 | CV3613558 | single nucleotide variant | NM_199337.3(TMEM179B):c.166C>T (p.Arg56Cys) | not specified [RCV004867370] | uncertain significance | 11 | 62789092 | 62789092 | Human | | name |
| 597753455 | CV3613559 | single nucleotide variant | NM_199337.3(TMEM179B):c.122T>A (p.Leu41Gln) | not specified [RCV004867371] | uncertain significance | 11 | 62789048 | 62789048 | Human | | name |
| 598213344 | CV3917473 | single nucleotide variant | NM_145254.3(TMEM170A):c.244A>G (p.Met82Val) | not specified [RCV005292299] | uncertain significance | 16 | 75451729 | 75451729 | Human | | name |
| 598213349 | CV3917474 | single nucleotide variant | NM_173490.8(TMEM171):c.688G>A (p.Glu230Lys) | not specified [RCV005292300] | uncertain significance | 5 | 73128437 | 73128437 | Human | | name |
| 598213354 | CV3917475 | single nucleotide variant | NM_173490.8(TMEM171):c.749A>C (p.Asn250Thr) | not specified [RCV005292301] | uncertain significance | 5 | 73128498 | 73128498 | Human | | name |
| 598213360 | CV3917476 | single nucleotide variant | NM_173490.8(TMEM171):c.646T>C (p.Ser216Pro) | not specified [RCV005292302] | uncertain significance | 5 | 73128395 | 73128395 | Human | | name |
| 598178413 | CV3917477 | single nucleotide variant | NM_173490.8(TMEM171):c.847G>C (p.Gly283Arg) | not specified [RCV005285973] | likely benign | 5 | 73131602 | 73131602 | Human | | name |
| 598178421 | CV3917478 | single nucleotide variant | NM_153217.3(TMEM174):c.523G>A (p.Ala175Thr) | not specified [RCV005285974] | uncertain significance | 5 | 73173766 | 73173766 | Human | | name |
| 598178451 | CV3917489 | single nucleotide variant | NM_018487.3(TMEM176A):c.106T>C (p.Cys36Arg) | not specified [RCV005285978] | uncertain significance | 7 | 150801656 | 150801656 | Human | | name |
| 598178458 | CV3917490 | single nucleotide variant | NM_018487.3(TMEM176A):c.281C>T (p.Ala94Val) | not specified [RCV005285979] | uncertain significance | 7 | 150802321 | 150802321 | Human | | name |
| 598213417 | CV3917495 | single nucleotide variant | NM_001101312.2(TMEM176B):c.5C>T (p.Thr2Met) | not specified [RCV005292313] | uncertain significance | 7 | 150796565 | 150796565 | Human | | name |
| 598213422 | CV3917496 | single nucleotide variant | NM_030577.3(TMEM177):c.463G>A (p.Ala155Thr) | not specified [RCV005292314] | uncertain significance | 2 | 119681316 | 119681316 | Human | | name |
| 598178472 | CV3917497 | single nucleotide variant | NM_152390.3(TMEM178A):c.268T>C (p.Trp90Arg) | not specified [RCV005285981] | uncertain significance | 2 | 39666242 | 39666242 | Human | | name |
| 598213445 | CV3917503 | single nucleotide variant | NM_199337.3(TMEM179B):c.149C>T (p.Ser50Phe) | not specified [RCV005292318] | uncertain significance | 11 | 62789075 | 62789075 | Human | | name |
| 598213452 | CV3917504 | single nucleotide variant | NM_199337.3(TMEM179B):c.281A>C (p.His94Pro) | not specified [RCV005292319] | uncertain significance | 11 | 62789207 | 62789207 | Human | | name |
| 150497522 | CV1236375 | single nucleotide variant | NM_032326.4(TMEM175):c.1178T>C (p.Met393Thr) | not provided [RCV001656100] | benign | 4 | 958159 | 958159 | Human | 37 | name |
| 156166059 | CV2243558 | single nucleotide variant | NM_032326.4(TMEM175):c.1109G>A (p.Arg370His) | not specified [RCV004112510] | likely benign | 4 | 958090 | 958090 | Human | | name |
| 156201257 | CV2256141 | single nucleotide variant | NM_032326.4(TMEM175):c.1220C>T (p.Pro407Leu) | not specified [RCV004116420] | uncertain significance | 4 | 958201 | 958201 | Human | | name |
| 156057988 | CV2262853 | single nucleotide variant | NM_199337.3(TMEM179B):c.304A>G (p.Ile102Val) | not specified [RCV004125003] | uncertain significance | 11 | 62789311 | 62789311 | Human | | name |
| 156367771 | CV2266875 | single nucleotide variant | NM_199337.3(TMEM179B):c.452C>T (p.Pro151Leu) | not specified [RCV004131542] | uncertain significance | 11 | 62789633 | 62789633 | Human | | name |
| 156176788 | CV2278309 | single nucleotide variant | NM_145254.3(TMEM170A):c.416G>C (p.Arg139Pro) | not specified [RCV004147612] | uncertain significance | 16 | 75447577 | 75447577 | Human | | name |
| 155993533 | CV2281331 | single nucleotide variant | NM_152390.3(TMEM178A):c.316C>T (p.Pro106Ser) | not specified [RCV004147558] | uncertain significance | 2 | 39666290 | 39666290 | Human | | name |
| 155903728 | CV2298669 | single nucleotide variant | NM_152390.3(TMEM178A):c.458G>A (p.Arg153Gln) | not specified [RCV004156247] | uncertain significance | 2 | 39704138 | 39704138 | Human | | name |
| 156289798 | CV2299397 | single nucleotide variant | NM_152390.3(TMEM178A):c.320T>C (p.Leu107Pro) | not specified [RCV004154483] | uncertain significance | 2 | 39666294 | 39666294 | Human | | name |
| 156241006 | CV2310098 | single nucleotide variant | NM_199337.3(TMEM179B):c.461C>G (p.Thr154Ser) | not specified [RCV004163223] | uncertain significance | 11 | 62789642 | 62789642 | Human | | name |
| 156161947 | CV2323492 | single nucleotide variant | NM_032326.4(TMEM175):c.1499T>C (p.Leu500Pro) | not specified [RCV004165700] | uncertain significance | 4 | 958480 | 958480 | Human | | name |
| 156329323 | CV2342389 | single nucleotide variant | NM_032326.4(TMEM175):c.1123C>T (p.Arg375Cys) | not specified [RCV004194002] | uncertain significance | 4 | 958104 | 958104 | Human | | name |
| 156247195 | CV2357039 | single nucleotide variant | NM_032326.4(TMEM175):c.1421G>A (p.Arg474Gln) | not specified [RCV004206843] | uncertain significance | 4 | 958402 | 958402 | Human | | name |
| 155931296 | CV2362523 | single nucleotide variant | NM_032326.4(TMEM175):c.1205C>T (p.Ala402Val) | not specified [RCV004213142] | uncertain significance | 4 | 958186 | 958186 | Human | | name |
| 156265158 | CV2364464 | single nucleotide variant | NM_032326.4(TMEM175):c.1130G>A (p.Arg377His) | not specified [RCV004216942] | uncertain significance | 4 | 958111 | 958111 | Human | | name |
| 156221186 | CV2392405 | single nucleotide variant | NM_032326.4(TMEM175):c.1429C>T (p.Arg477Trp) | not specified [RCV004243988] | uncertain significance | 4 | 958410 | 958410 | Human | | name |
| 155995956 | CV2398481 | single nucleotide variant | NM_199337.3(TMEM179B):c.644G>A (p.Arg215His) | not specified [RCV004237804] | uncertain significance | 11 | 62790031 | 62790031 | Human | | name |
| 329370421 | CV2435576 | single nucleotide variant | NM_199337.3(TMEM179B):c.517T>A (p.Leu173Met) | not specified [RCV004254830] | uncertain significance | 11 | 62789904 | 62789904 | Human | | name |
| 329359795 | CV2446415 | single nucleotide variant | NM_152390.3(TMEM178A):c.452G>A (p.Arg151His) | not specified [RCV004249534] | uncertain significance | 2 | 39704132 | 39704132 | Human | | name |
| 329395245 | CV2458236 | single nucleotide variant | NM_018487.3(TMEM176A):c.319G>A (p.Glu107Lys) | not specified [RCV004265895] | uncertain significance | 7 | 150803433 | 150803433 | Human | | name |
| 329361069 | CV2463255 | single nucleotide variant | NM_199337.3(TMEM179B):c.549G>C (p.Gln183His) | not specified [RCV004275020] | uncertain significance | 11 | 62789936 | 62789936 | Human | | name |
| 401741311 | CV2680593 | single nucleotide variant | NM_018487.3(TMEM176A):c.617C>T (p.Ser206Phe) | not specified [RCV004291218] | uncertain significance | 7 | 150804423 | 150804423 | Human | | name |
| 401747902 | CV2698876 | single nucleotide variant | NM_152390.3(TMEM178A):c.848G>A (p.Arg283Gln) | not specified [RCV004301640] | uncertain significance | 2 | 39717205 | 39717205 | Human | | name |
| 401738712 | CV2708118 | single nucleotide variant | NM_032326.4(TMEM175):c.1391T>C (p.Leu464Pro) | not specified [RCV004311493] | uncertain significance | 4 | 958372 | 958372 | Human | | name |
| 401768777 | CV2735426 | single nucleotide variant | NM_032326.4(TMEM175):c.1190C>T (p.Ala397Val) | not specified [RCV004330988] | uncertain significance | 4 | 958171 | 958171 | Human | | name |
| 401861780 | CV2756682 | single nucleotide variant | NM_018487.3(TMEM176A):c.551T>C (p.Leu184Pro) | not specified [RCV004345193] | uncertain significance | 7 | 150803828 | 150803828 | Human | | name |
| 401880780 | CV2763136 | single nucleotide variant | NM_032326.4(TMEM175):c.1372G>A (p.Ala458Thr) | not specified [RCV004336182] | uncertain significance | 4 | 958353 | 958353 | Human | | name |
| 401887439 | CV2773459 | single nucleotide variant | NM_199337.3(TMEM179B):c.481A>G (p.Asn161Asp) | not specified [RCV004354093] | uncertain significance | 11 | 62789662 | 62789662 | Human | | name |
| 405794824 | CV3336093 | single nucleotide variant | NM_032326.4(TMEM175):c.1202A>G (p.Gln401Arg) | not specified [RCV004475338] | uncertain significance | 4 | 958183 | 958183 | Human | | name |
| 405794827 | CV3336094 | single nucleotide variant | NM_032326.4(TMEM175):c.1326G>T (p.Arg442Ser) | not specified [RCV004475339] | uncertain significance | 4 | 958307 | 958307 | Human | | name |
| 405794830 | CV3336095 | single nucleotide variant | NM_032326.4(TMEM175):c.1396G>A (p.Val466Met) | not specified [RCV004475340] | uncertain significance | 4 | 958377 | 958377 | Human | | name |
| 405794833 | CV3336096 | single nucleotide variant | NM_032326.4(TMEM175):c.1460C>T (p.Pro487Leu) | not specified [RCV004475341] | uncertain significance | 4 | 958441 | 958441 | Human | | name |
| 405794837 | CV3336097 | single nucleotide variant | NM_032326.4(TMEM175):c.1480G>A (p.Asp494Asn) | not specified [RCV004475342] | uncertain significance | 4 | 958461 | 958461 | Human | | name |
| 405794870 | CV3336107 | single nucleotide variant | NM_018487.3(TMEM176A):c.443A>G (p.Asn148Ser) | not specified [RCV004475352] | uncertain significance | 7 | 150803720 | 150803720 | Human | | name |
| 405794873 | CV3336108 | single nucleotide variant | NM_018487.3(TMEM176A):c.477G>C (p.Trp159Cys) | not specified [RCV004475353] | uncertain significance | 7 | 150803754 | 150803754 | Human | | name |
| 405794877 | CV3336109 | single nucleotide variant | NM_018487.3(TMEM176A):c.625C>G (p.Pro209Ala) | not specified [RCV004475354] | uncertain significance | 7 | 150804431 | 150804431 | Human | | name |
| 405794880 | CV3336110 | single nucleotide variant | NM_018487.3(TMEM176A):c.691G>A (p.Glu231Lys) | not specified [RCV004475355] | uncertain significance | 7 | 150804851 | 150804851 | Human | | name |
| 405794916 | CV3336121 | single nucleotide variant | NM_152390.3(TMEM178A):c.427A>C (p.Lys143Gln) | not specified [RCV004475366] | uncertain significance | 2 | 39704107 | 39704107 | Human | | name |
| 405794922 | CV3336122 | single nucleotide variant | NM_152390.3(TMEM178A):c.478A>T (p.Thr160Ser) | not specified [RCV004475367] | uncertain significance | 2 | 39704158 | 39704158 | Human | | name |
| 405794924 | CV3336123 | single nucleotide variant | NM_152390.3(TMEM178A):c.842T>C (p.Ile281Thr) | not specified [RCV004475368] | uncertain significance | 2 | 39717199 | 39717199 | Human | | name |
| 405794951 | CV3336132 | single nucleotide variant | NM_199337.3(TMEM179B):c.509G>C (p.Trp170Ser) | not specified [RCV004475377] | uncertain significance | 11 | 62789896 | 62789896 | Human | | name |
| 407453415 | CV3486443 | single nucleotide variant | NM_032326.4(TMEM175):c.1261G>A (p.Ala421Thr) | not specified [RCV004684536] | uncertain significance | 4 | 958242 | 958242 | Human | | name |
| 407453418 | CV3486444 | single nucleotide variant | NM_032326.4(TMEM175):c.1054G>A (p.Val352Met) | not specified [RCV004684537] | uncertain significance | 4 | 958035 | 958035 | Human | | name |
| 407453427 | CV3486447 | single nucleotide variant | NM_032326.4(TMEM175):c.1499T>A (p.Leu500His) | not specified [RCV004684540] | uncertain significance | 4 | 958480 | 958480 | Human | | name |
| 407453435 | CV3486450 | single nucleotide variant | NM_018487.3(TMEM176A):c.548T>C (p.Met183Thr) | not specified [RCV004684543] | uncertain significance | 7 | 150803825 | 150803825 | Human | | name |
| 407453438 | CV3486451 | single nucleotide variant | NM_018487.3(TMEM176A):c.598A>G (p.Ile200Val) | not specified [RCV004684544] | likely benign | 7 | 150804404 | 150804404 | Human | | name |
| 407453441 | CV3486452 | single nucleotide variant | NM_018487.3(TMEM176A):c.305C>T (p.Ala102Val) | not specified [RCV004684545] | likely benign | 7 | 150803419 | 150803419 | Human | | name |
| 407453462 | CV3486459 | single nucleotide variant | NM_152390.3(TMEM178A):c.463A>G (p.Ile155Val) | not specified [RCV004684552] | uncertain significance | 2 | 39704143 | 39704143 | Human | | name |
| 407453465 | CV3486460 | single nucleotide variant | NM_152390.3(TMEM178A):c.839T>C (p.Phe280Ser) | not specified [RCV004684553] | uncertain significance | 2 | 39717196 | 39717196 | Human | | name |
| 407453486 | CV3486466 | single nucleotide variant | NM_199337.3(TMEM179B):c.332T>C (p.Val111Ala) | not specified [RCV004684559] | uncertain significance | 11 | 62789339 | 62789339 | Human | | name |
| 597753215 | CV3613508 | single nucleotide variant | NM_145254.3(TMEM170A):c.415C>T (p.Arg139Trp) | not specified [RCV004867323] | uncertain significance | 16 | 75447578 | 75447578 | Human | | name |
| 597753249 | CV3613514 | single nucleotide variant | NM_001100829.3(TMEM170B):c.13G>C (p.Gly5Arg) | not specified [RCV004867329] | uncertain significance | 6 | 11538290 | 11538290 | Human | | name |
| 597795221 | CV3613524 | single nucleotide variant | NM_032326.4(TMEM175):c.1329C>G (p.Phe443Leu) | not specified [RCV004878142] | uncertain significance | 4 | 958310 | 958310 | Human | | name |
| 597753300 | CV3613525 | single nucleotide variant | NM_032326.4(TMEM175):c.1457C>T (p.Pro486Leu) | not specified [RCV004867338] | uncertain significance | 4 | 958438 | 958438 | Human | | name |
| 597753318 | CV3613528 | single nucleotide variant | NM_032326.4(TMEM175):c.1037C>T (p.Thr346Met) | not specified [RCV004867341] | uncertain significance | 4 | 958018 | 958018 | Human | | name |
| 597753328 | CV3613530 | single nucleotide variant | NM_032326.4(TMEM175):c.1108C>T (p.Arg370Cys) | not specified [RCV004867343] | uncertain significance | 4 | 958089 | 958089 | Human | | name |
| 597753346 | CV3613533 | single nucleotide variant | NM_032326.4(TMEM175):c.1456C>T (p.Pro486Ser) | not specified [RCV004867346] | uncertain significance | 4 | 958437 | 958437 | Human | | name |
| 597753351 | CV3613534 | single nucleotide variant | NM_032326.4(TMEM175):c.1344C>A (p.Phe448Leu) | not specified [RCV004867347] | uncertain significance | 4 | 958325 | 958325 | Human | | name |
| 597753365 | CV3613537 | single nucleotide variant | NM_018487.3(TMEM176A):c.506A>T (p.Glu169Val) | not specified [RCV004867350] | uncertain significance | 7 | 150803783 | 150803783 | Human | | name |
| 597753371 | CV3613538 | single nucleotide variant | NM_018487.3(TMEM176A):c.631T>C (p.Trp211Arg) | not specified [RCV004867351] | uncertain significance | 7 | 150804437 | 150804437 | Human | | name |
| 597753395 | CV3613544 | single nucleotide variant | NM_152390.3(TMEM178A):c.410A>G (p.Gln137Arg) | not specified [RCV004867357] | uncertain significance | 2 | 39704090 | 39704090 | Human | | name |
| 597753405 | CV3613546 | single nucleotide variant | NM_152390.3(TMEM178A):c.721A>G (p.Lys241Glu) | not specified [RCV004867359] | uncertain significance | 2 | 39717078 | 39717078 | Human | | name |
| 597753435 | CV3613554 | single nucleotide variant | NM_199337.3(TMEM179B):c.652C>T (p.His218Tyr) | not specified [RCV004867366] | uncertain significance | 11 | 62790039 | 62790039 | Human | | name |
| 597753443 | CV3613556 | single nucleotide variant | NM_199337.3(TMEM179B):c.365G>A (p.Arg122Gln) | not specified [RCV004867368] | uncertain significance | 11 | 62789372 | 62789372 | Human | | name |
| 597753447 | CV3613557 | single nucleotide variant | NM_199337.3(TMEM179B):c.605C>T (p.Pro202Leu) | not specified [RCV004867369] | uncertain significance | 11 | 62789992 | 62789992 | Human | | name |
| 598213365 | CV3917479 | single nucleotide variant | NM_032326.4(TMEM175):c.1111G>T (p.Asp371Tyr) | not specified [RCV005292303] | uncertain significance | 4 | 958092 | 958092 | Human | | name |
| 598213371 | CV3917480 | single nucleotide variant | NM_032326.4(TMEM175):c.1111G>A (p.Asp371Asn) | not specified [RCV005292304] | uncertain significance | 4 | 958092 | 958092 | Human | | name |
| 598213376 | CV3917481 | single nucleotide variant | NM_032326.4(TMEM175):c.1283G>A (p.Cys428Tyr) | not specified [RCV005292305] | uncertain significance | 4 | 958264 | 958264 | Human | | name |
| 598213380 | CV3917483 | single nucleotide variant | NM_032326.4(TMEM175):c.1490C>G (p.Ser497Cys) | not specified [RCV005292306] | uncertain significance | 4 | 958471 | 958471 | Human | | name |
| 598213390 | CV3917486 | single nucleotide variant | NM_032326.4(TMEM175):c.1126G>A (p.Val376Met) | not specified [RCV005292308] | uncertain significance | 4 | 958107 | 958107 | Human | | name |
| 598213428 | CV3917498 | single nucleotide variant | NM_152390.3(TMEM178A):c.696C>G (p.Ile232Met) | not specified [RCV005292315] | uncertain significance | 2 | 39717053 | 39717053 | Human | | name |
| 598213435 | CV3917499 | single nucleotide variant | NM_152390.3(TMEM178A):c.472A>G (p.Asn158Asp) | not specified [RCV005292316] | uncertain significance | 2 | 39704152 | 39704152 | Human | | name |
| 156098141 | CV2306437 | single nucleotide variant | NM_001101312.2(TMEM176B):c.28G>A (p.Gly10Arg) | not specified [RCV004157063] | uncertain significance | 7 | 150796542 | 150796542 | Human | | name |
| 156148348 | CV2307338 | single nucleotide variant | NM_001195278.2(TMEM178B):c.88C>T (p.His30Tyr) | not specified [RCV004166026] | uncertain significance | 7 | 141074398 | 141074398 | Human | | name |
| 156159151 | CV2322716 | single nucleotide variant | NM_001195278.2(TMEM178B):c.87C>A (p.Asp29Glu) | not specified [RCV004182836] | uncertain significance | 7 | 141074397 | 141074397 | Human | | name |
| 156276920 | CV2330795 | single nucleotide variant | NM_001100829.3(TMEM170B):c.43G>C (p.Val15Leu) | not specified [RCV004185855] | uncertain significance | 6 | 11538320 | 11538320 | Human | | name |
| 156109273 | CV2355468 | single nucleotide variant | NM_001101312.2(TMEM176B):c.35C>T (p.Ala12Val) | not specified [RCV004205319] | uncertain significance | 7 | 150796535 | 150796535 | Human | | name |
| 401738381 | CV2676265 | single nucleotide variant | NM_001100829.3(TMEM170B):c.95C>T (p.Thr32Met) | not specified [RCV004286304] | uncertain significance | 6 | 11538372 | 11538372 | Human | | name |
| 401762067 | CV2722626 | single nucleotide variant | NM_001101312.2(TMEM176B):c.71A>C (p.Asn24Thr) | not specified [RCV004325083] | uncertain significance | 7 | 150796499 | 150796499 | Human | | name |
| 405794930 | CV3336125 | single nucleotide variant | NM_001195278.2(TMEM178B):c.534G>A (p.Ala178=) | not specified [RCV004475370] | likely benign | 7 | 141437645 | 141437645 | Human | | name |
| 407453468 | CV3486461 | single nucleotide variant | NM_001195278.2(TMEM178B):c.80G>A (p.Cys27Tyr) | not specified [RCV004684554] | uncertain significance | 7 | 141074390 | 141074390 | Human | | name |
| 8630351 | CV85506 | single nucleotide variant | NM_001167959.1(TMEM178A):c.94T>C (p.Phe32Leu) | Malignant melanoma [RCV000065589] | not provided | 2 | 39707174 | 39707174 | Human | | name |
| 156182674 | CV2255257 | single nucleotide variant | NM_001101312.2(TMEM176B):c.134A>G (p.Lys45Arg) | not specified [RCV004117648] | uncertain significance | 7 | 150796436 | 150796436 | Human | | name |
| 156167753 | CV2270507 | single nucleotide variant | NM_001101312.2(TMEM176B):c.224G>A (p.Gly75Glu) | not specified [RCV004137465] | uncertain significance | 7 | 150794052 | 150794052 | Human | | name |
| 156094485 | CV2310015 | single nucleotide variant | NM_001101312.2(TMEM176B):c.152G>A (p.Gly51Glu) | not specified [RCV004163156] | uncertain significance | 7 | 150796418 | 150796418 | Human | | name |
| 156297628 | CV2328959 | single nucleotide variant | NM_001101312.2(TMEM176B):c.281G>A (p.Ser94Asn) | not specified [RCV004180256] | uncertain significance | 7 | 150793995 | 150793995 | Human | | name |
| 156142318 | CV2358486 | single nucleotide variant | NM_001101312.2(TMEM176B):c.155A>T (p.Asp52Val) | not specified [RCV004207374] | uncertain significance | 7 | 150796415 | 150796415 | Human | | name |
| 156090676 | CV2384517 | single nucleotide variant | NM_001101312.2(TMEM176B):c.157A>G (p.Thr53Ala) | not specified [RCV004232317] | uncertain significance | 7 | 150796413 | 150796413 | Human | | name |
| 405794927 | CV3336124 | single nucleotide variant | NM_001195278.2(TMEM178B):c.242G>C (p.Arg81Pro) | not specified [RCV004475369] | uncertain significance | 7 | 141074552 | 141074552 | Human | | name |
| 407458690 | CV3486438 | single nucleotide variant | NM_001100829.3(TMEM170B):c.143T>G (p.Phe48Cys) | not specified [RCV004686905] | uncertain significance | 6 | 11565711 | 11565711 | Human | | name |
| 407453474 | CV3486463 | single nucleotide variant | NM_001195278.2(TMEM178B):c.271A>C (p.Met91Leu) | not specified [RCV004684556] | uncertain significance | 7 | 141074581 | 141074581 | Human | | name |
| 597753375 | CV3613539 | single nucleotide variant | NM_001101312.2(TMEM176B):c.167C>T (p.Ser56Phe) | not specified [RCV004867352] | uncertain significance | 7 | 150796403 | 150796403 | Human | | name |
| 598213406 | CV3917493 | single nucleotide variant | NM_001101312.2(TMEM176B):c.209C>G (p.Thr70Ser) | not specified [RCV005292311] | uncertain significance | 7 | 150794067 | 150794067 | Human | | name |
| 156239956 | CV2217407 | single nucleotide variant | NM_001101312.2(TMEM176B):c.431T>C (p.Val144Ala) | not specified [RCV004087839] | uncertain significance | 7 | 150793257 | 150793257 | Human | | name |
| 155978717 | CV2247110 | single nucleotide variant | NM_001101312.2(TMEM176B):c.617T>C (p.Ile206Thr) | not specified [RCV004114646] | uncertain significance | 7 | 150792159 | 150792159 | Human | | name |
| 156367302 | CV2266767 | single nucleotide variant | NM_001101312.2(TMEM176B):c.619C>A (p.Arg207Ser) | not specified [RCV004137593] | uncertain significance | 7 | 150792157 | 150792157 | Human | | name |
| 156366120 | CV2272240 | single nucleotide variant | NM_001101312.2(TMEM176B):c.586A>T (p.Met196Leu) | not specified [RCV004126914] | uncertain significance | 7 | 150793102 | 150793102 | Human | | name |
| 155962690 | CV2285685 | single nucleotide variant | NM_001195278.2(TMEM178B):c.483G>C (p.Glu161Asp) | not specified [RCV004141535] | uncertain significance | 7 | 141212691 | 141212691 | Human | | name |
| 329352204 | CV2452219 | single nucleotide variant | NM_001101312.2(TMEM176B):c.542G>A (p.Arg181Gln) | not specified [RCV004278920] | likely benign | 7 | 150793146 | 150793146 | Human | | name |
| 329352651 | CV2470274 | single nucleotide variant | NM_001101312.2(TMEM176B):c.593T>C (p.Met198Thr) | not specified [RCV004279680] | uncertain significance | 7 | 150793095 | 150793095 | Human | | name |
| 401720018 | CV2675750 | single nucleotide variant | NM_001195278.2(TMEM178B):c.368C>T (p.Ala123Val) | not specified [RCV004287995] | uncertain significance | 7 | 141074678 | 141074678 | Human | | name |
| 401754315 | CV2685232 | single nucleotide variant | NM_001195278.2(TMEM178B):c.473G>A (p.Arg158His) | not specified [RCV004289783] | uncertain significance | 7 | 141212681 | 141212681 | Human | | name |
| 401735492 | CV2687597 | single nucleotide variant | NM_001101312.2(TMEM176B):c.650A>G (p.Lys217Arg) | not specified [RCV004300819] | uncertain significance | 7 | 150792126 | 150792126 | Human | | name |
| 401721260 | CV2709890 | single nucleotide variant | NM_001101312.2(TMEM176B):c.620G>T (p.Arg207Leu) | not specified [RCV004321181] | uncertain significance | 7 | 150792156 | 150792156 | Human | | name |
| 405794785 | CV3336081 | single nucleotide variant | NM_001100829.3(TMEM170B):c.340G>A (p.Val114Ile) | not specified [RCV004475326] | uncertain significance | 6 | 11575502 | 11575502 | Human | | name |
| 405794883 | CV3336111 | single nucleotide variant | NM_001101312.2(TMEM176B):c.520A>G (p.Thr174Ala) | not specified [RCV004475356] | uncertain significance | 7 | 150793168 | 150793168 | Human | | name |
| 405794886 | CV3336112 | single nucleotide variant | NM_001101312.2(TMEM176B):c.563A>C (p.Gln188Pro) | not specified [RCV004475357] | uncertain significance | 7 | 150793125 | 150793125 | Human | | name |
| 405794889 | CV3336113 | single nucleotide variant | NM_001101312.2(TMEM176B):c.619C>T (p.Arg207Cys) | not specified [RCV004475358] | likely benign | 7 | 150792157 | 150792157 | Human | | name |
| 405794933 | CV3336126 | single nucleotide variant | NM_001195278.2(TMEM178B):c.580T>C (p.Cys194Arg) | not specified [RCV004475371] | uncertain significance | 7 | 141437691 | 141437691 | Human | | name |
| 405794937 | CV3336127 | single nucleotide variant | NM_001195278.2(TMEM178B):c.772G>A (p.Gly258Ser) | not specified [RCV004475372] | uncertain significance | 7 | 141470673 | 141470673 | Human | | name |
| 405794938 | CV3336128 | single nucleotide variant | NM_001195278.2(TMEM178B):c.836C>T (p.Pro279Leu) | not specified [RCV004475373] | uncertain significance | 7 | 141470737 | 141470737 | Human | | name |
| 407453445 | CV3486453 | single nucleotide variant | NM_001101312.2(TMEM176B):c.699T>G (p.Cys233Trp) | not specified [RCV004684546] | uncertain significance | 7 | 150792077 | 150792077 | Human | | name |
| 407453471 | CV3486462 | single nucleotide variant | NM_001195278.2(TMEM178B):c.767G>T (p.Trp256Leu) | not specified [RCV004684555] | uncertain significance | 7 | 141470668 | 141470668 | Human | | name |
| 597753244 | CV3613513 | single nucleotide variant | NM_001100829.3(TMEM170B):c.391A>G (p.Thr131Ala) | not specified [RCV004867328] | uncertain significance | 6 | 11575553 | 11575553 | Human | | name |
| 597795224 | CV3613549 | single nucleotide variant | NM_001195278.2(TMEM178B):c.568G>A (p.Val190Met) | not specified [RCV004878143] | uncertain significance | 7 | 141437679 | 141437679 | Human | | name |
| 597753417 | CV3613550 | single nucleotide variant | NM_001195278.2(TMEM178B):c.865G>A (p.Glu289Lys) | not specified [RCV004867362] | uncertain significance | 7 | 141470766 | 141470766 | Human | | name |
| 597753421 | CV3613551 | single nucleotide variant | NM_001195278.2(TMEM178B):c.389T>C (p.Ile130Thr) | not specified [RCV004867363] | uncertain significance | 7 | 141212597 | 141212597 | Human | | name |
| 597753425 | CV3613552 | single nucleotide variant | NM_001195278.2(TMEM178B):c.488A>G (p.His163Arg) | not specified [RCV004867364] | uncertain significance | 7 | 141212696 | 141212696 | Human | | name |
| 598213412 | CV3917494 | single nucleotide variant | NM_001101312.2(TMEM176B):c.776C>A (p.Pro259His) | not specified [RCV005292312] | uncertain significance | 7 | 150791568 | 150791568 | Human | | name |
| 598178480 | CV3917500 | single nucleotide variant | NM_001195278.2(TMEM178B):c.547C>G (p.Leu183Val) | not specified [RCV005285982] | uncertain significance | 7 | 141437658 | 141437658 | Human | | name |
| 598178485 | CV3917502 | single nucleotide variant | NM_001195278.2(TMEM178B):c.568G>T (p.Val190Leu) | not specified [RCV005285983] | uncertain significance | 7 | 141437679 | 141437679 | Human | | name |