| 150472473 | CV1259301 | single nucleotide variant | NM_018052.5(VAC14):c.-17T>C | not provided [RCV001684547] | benign | 16 | 70800917 | 70800917 | Human | | name |
| 150462013 | CV1214584 | single nucleotide variant | NM_018052.5(VAC14):c.947-3C>T | VAC14-related disorder [RCV003921261]|not provided [RCV001613577] | benign | 16 | 70780942 | 70780942 | Human | 1 | name , trait , alternate_id |
| 151846827 | CV1513016 | single nucleotide variant | NM_018052.5(VAC14):c.423+6C>T | Inborn genetic diseases [RCV002552844]|VAC14-related disorder [RCV003911071]|not provided [RCV001922231] | likely benign|uncertain significance | 16 | 70785696 | 70785696 | Human | 2 | name , trait , alternate_id |
| 152090802 | CV1525674 | single nucleotide variant | NM_018052.5(VAC14):c.705-7T>C | not provided [RCV002150563] | likely benign | 16 | 70783146 | 70783146 | Human | | name |
| 152090122 | CV1535863 | single nucleotide variant | NM_018052.5(VAC14):c.424-9C>T | not provided [RCV002150483] | likely benign | 16 | 70784847 | 70784847 | Human | | name |
| 152044713 | CV1590585 | single nucleotide variant | NM_018052.5(VAC14):c.423+7G>A | not provided [RCV002108203] | likely benign | 16 | 70785695 | 70785695 | Human | | name |
| 155798865 | CV1862205 | single nucleotide variant | NM_018052.5(VAC14):c.104+2T>G | Striatonigral degeneration, childhood-onset [RCV002471609] | likely pathogenic | 16 | 70800795 | 70800795 | Human | 1 | name |
| 156021884 | CV1899313 | single nucleotide variant | NM_018052.5(VAC14):c.947-9T>C | not provided [RCV003100238] | likely benign | 16 | 70780948 | 70780948 | Human | | name |
| 156026570 | CV1917740 | single nucleotide variant | NM_018052.5(VAC14):c.104+7G>T | not provided [RCV002619658] | likely benign | 16 | 70800790 | 70800790 | Human | | name |
| 156087687 | CV1919589 | single nucleotide variant | NM_018052.5(VAC14):c.423+8C>A | not provided [RCV002591797] | likely benign | 16 | 70785694 | 70785694 | Human | | name |
| 156434671 | CV1940154 | single nucleotide variant | NM_018052.5(VAC14):c.423+5C>T | not provided [RCV003104569] | uncertain significance | 16 | 70785697 | 70785697 | Human | | name |
| 156069263 | CV1971721 | single nucleotide variant | NM_018052.5(VAC14):c.595-8C>G | not provided [RCV002591223] | likely benign | 16 | 70783562 | 70783562 | Human | | name |
| 156095897 | CV1980918 | single nucleotide variant | NM_018052.5(VAC14):c.255+4G>A | not provided [RCV002622028] | uncertain significance | 16 | 70786211 | 70786211 | Human | | name |
| 156391271 | CV1990155 | single nucleotide variant | NM_018052.5(VAC14):c.947-2A>G | not provided [RCV002604688]|not specified [RCV003230753] | likely pathogenic|uncertain significance | 16 | 70780941 | 70780941 | Human | | name |
| 156271310 | CV2004136 | deletion | NM_018052.5(VAC14):c.595-7del | not provided [RCV002646540] | likely benign | 16 | 70783561 | 70783561 | Human | | name |
| 156354177 | CV2066224 | single nucleotide variant | NM_018052.5(VAC14):c.487-9G>T | not provided [RCV002812009] | likely benign | 16 | 70784229 | 70784229 | Human | | name |
| 155970653 | CV2079196 | single nucleotide variant | NM_018052.5(VAC14):c.256-7C>G | not provided [RCV002881470] | likely benign | 16 | 70785876 | 70785876 | Human | | name |
| 156307515 | CV2079890 | single nucleotide variant | NM_018052.5(VAC14):c.595-9C>T | not provided [RCV002857481] | likely benign | 16 | 70783563 | 70783563 | Human | | name |
| 156389490 | CV2122319 | single nucleotide variant | NM_018052.5(VAC14):c.811+8T>C | not provided [RCV002943753] | likely benign | 16 | 70783025 | 70783025 | Human | | name |
| 405066344 | CV2879220 | single nucleotide variant | NM_018052.5(VAC14):c.423+8C>G | not provided [RCV003548259] | likely benign | 16 | 70785694 | 70785694 | Human | | name |
| 402518551 | CV3003465 | single nucleotide variant | NM_018052.5(VAC14):c.487-5C>A | not provided [RCV003716256] | likely benign | 16 | 70784225 | 70784225 | Human | | name |
| 405175897 | CV3119257 | single nucleotide variant | NM_018052.5(VAC14):c.104+7G>A | not provided [RCV003819542] | likely benign | 16 | 70800790 | 70800790 | Human | | name |
| 597931807 | CV3789503 | single nucleotide variant | NM_018052.5(VAC14):c.812-8C>T | not provided [RCV005131784] | likely benign | 16 | 70782011 | 70782011 | Human | | name |
| 13509355 | CV482105 | single nucleotide variant | NM_018052.5(VAC14):c.486+3A>G | not provided [RCV000579348] | likely pathogenic | 16 | 70784773 | 70784773 | Human | | name |
| 150335033 | CV1172888 | single nucleotide variant | NM_018052.5(VAC14):c.594+34C>A | not provided [RCV001540368] | benign | 16 | 70784079 | 70784079 | Human | | name |
| 150511019 | CV1210655 | single nucleotide variant | NM_018052.5(VAC14):c.424-18T>C | Striatonigral degeneration, childhood-onset [RCV002243317]|not provided [RCV001597834] | benign | 16 | 70784856 | 70784856 | Human | 3 | name |
| 150511019 | CV1210655 | single nucleotide variant | NM_018052.5(VAC14):c.424-18T>C | Striatonigral degeneration, childhood-onset [RCV002243317]|not provided [RCV001597834] | benign | 16 | 70784856 | 70784857 | Human | 3 | name |
| 150448481 | CV1214981 | single nucleotide variant | NM_018052.5(VAC14):c.255+57C>T | not provided [RCV001611570] | benign | 16 | 70786158 | 70786158 | Human | | name |
| 150434694 | CV1215953 | single nucleotide variant | NM_018052.5(VAC14):c.595-44G>A | not provided [RCV001609142] | benign | 16 | 70783598 | 70783598 | Human | | name |
| 150460938 | CV1253179 | single nucleotide variant | NM_018052.5(VAC14):c.811+43G>A | Striatonigral degeneration, childhood-onset [RCV002243383]|not provided [RCV001669508] | benign | 16 | 70782990 | 70782990 | Human | 1 | name |
| 150453504 | CV1260523 | single nucleotide variant | NM_018052.5(VAC14):c.1306-7C>T | Striatonigral degeneration, childhood-onset [RCV002243406]|not provided [RCV001681015] | benign | 16 | 70762612 | 70762612 | Human | 1 | name |
| 150440738 | CV1266962 | single nucleotide variant | NM_018052.5(VAC14):c.486+50C>A | not provided [RCV001690398] | benign | 16 | 70784726 | 70784726 | Human | | name |
| 150447798 | CV1278371 | single nucleotide variant | NM_018052.5(VAC14):c.704+52G>A | not provided [RCV001707885] | benign | 16 | 70783393 | 70783393 | Human | | name |
| 151734523 | CV1501189 | single nucleotide variant | NM_018052.5(VAC14):c.2187-9T>A | not provided [RCV002005131] | likely benign|uncertain significance | 16 | 70688099 | 70688099 | Human | | name |
| 152107872 | CV1529911 | single nucleotide variant | NM_018052.5(VAC14):c.2187-6T>C | not provided [RCV002196392] | likely benign | 16 | 70688096 | 70688096 | Human | | name |
| 152149055 | CV1545324 | single nucleotide variant | NM_018052.5(VAC14):c.2035+7A>C | not provided [RCV002121488] | likely benign | 16 | 70695537 | 70695537 | Human | | name |
| 152116825 | CV1553543 | single nucleotide variant | NM_018052.5(VAC14):c.1529-9T>C | not provided [RCV002081005] | benign | 16 | 70731636 | 70731636 | Human | | name |
| 152168375 | CV1558657 | single nucleotide variant | NM_018052.5(VAC14):c.812-16C>T | not provided [RCV002142421] | likely benign | 16 | 70782019 | 70782019 | Human | | name |
| 152077907 | CV1561027 | single nucleotide variant | NM_018052.5(VAC14):c.1956-6A>G | not provided [RCV002112356] | likely benign | 16 | 70695629 | 70695629 | Human | | name |
| 152167679 | CV1577510 | single nucleotide variant | NM_018052.5(VAC14):c.105-19C>G | not provided [RCV002204771] | likely benign | 16 | 70786384 | 70786384 | Human | | name |
| 152146015 | CV1582749 | single nucleotide variant | NM_018052.5(VAC14):c.947-18T>G | not provided [RCV002201251] | likely benign | 16 | 70780957 | 70780957 | Human | | name |
| 152096433 | CV1597490 | single nucleotide variant | NM_018052.5(VAC14):c.594+13C>T | not provided [RCV002114759] | likely benign | 16 | 70784100 | 70784100 | Human | | name |
| 152172499 | CV1599153 | single nucleotide variant | NM_018052.5(VAC14):c.487-14C>T | not provided [RCV002143798] | benign | 16 | 70784234 | 70784234 | Human | | name |
| 152105992 | CV1612703 | duplication | NM_018052.5(VAC14):c.105-19dup | not provided [RCV002173723] | benign | 16 | 70786383 | 70786384 | Human | | name |
| 152036722 | CV1617830 | single nucleotide variant | NM_018052.5(VAC14):c.104+20C>T | not provided [RCV002125456] | likely benign | 16 | 70800777 | 70800777 | Human | | name |
| 152149627 | CV1622512 | single nucleotide variant | NM_018052.5(VAC14):c.104+10G>T | not provided [RCV002220598] | benign | 16 | 70800787 | 70800787 | Human | | name |
| 152085725 | CV1645257 | single nucleotide variant | NM_018052.5(VAC14):c.105-18T>G | not provided [RCV002131402] | likely benign | 16 | 70786383 | 70786383 | Human | | name |
| 152174238 | CV1662620 | single nucleotide variant | NM_018052.5(VAC14):c.486+19C>T | not provided [RCV002163086] | likely benign | 16 | 70784757 | 70784757 | Human | | name |
| 156328926 | CV1953230 | single nucleotide variant | NM_018052.5(VAC14):c.947-14A>G | not provided [RCV002579884] | likely benign | 16 | 70780953 | 70780953 | Human | | name |
| 156414758 | CV1954903 | single nucleotide variant | NM_018052.5(VAC14):c.594+20C>T | not provided [RCV002588791] | likely benign | 16 | 70784093 | 70784093 | Human | | name |
| 156408428 | CV1957840 | single nucleotide variant | NM_018052.5(VAC14):c.487-19A>C | not provided [RCV002586515] | likely benign | 16 | 70784239 | 70784239 | Human | | name |
| 156266258 | CV1960880 | single nucleotide variant | NM_018052.5(VAC14):c.705-16C>G | not provided [RCV002577015] | likely benign | 16 | 70783155 | 70783155 | Human | | name |
| 156186598 | CV1964727 | single nucleotide variant | NM_018052.5(VAC14):c.704+12A>G | not provided [RCV002574278] | likely benign | 16 | 70783433 | 70783433 | Human | | name |
| 156248932 | CV1969662 | single nucleotide variant | NM_018052.5(VAC14):c.424-20C>A | not provided [RCV002597404] | likely benign | 16 | 70784858 | 70784858 | Human | | name |
| 156258433 | CV1977437 | single nucleotide variant | NM_018052.5(VAC14):c.594+14G>A | not provided [RCV002597699] | likely benign | 16 | 70784099 | 70784099 | Human | | name |
| 156111279 | CV1988779 | single nucleotide variant | NM_018052.5(VAC14):c.811+12G>C | not provided [RCV002622587] | likely benign | 16 | 70783021 | 70783021 | Human | | name |
| 156331215 | CV2004419 | single nucleotide variant | NM_018052.5(VAC14):c.486+12T>G | not provided [RCV002649828] | likely benign | 16 | 70784764 | 70784764 | Human | | name |
| 156348022 | CV2005328 | single nucleotide variant | NM_018052.5(VAC14):c.704+15G>A | not provided [RCV002650677] | likely benign | 16 | 70783430 | 70783430 | Human | | name |
| 156216811 | CV2081710 | single nucleotide variant | NM_018052.5(VAC14):c.704+10G>A | not provided [RCV002894024] | likely benign | 16 | 70783435 | 70783435 | Human | | name |
| 155903866 | CV2127143 | single nucleotide variant | NM_018052.5(VAC14):c.2186+9C>T | not provided [RCV002967588] | likely benign | 16 | 70692812 | 70692812 | Human | | name |
| 155957824 | CV2159287 | single nucleotide variant | NM_018052.5(VAC14):c.255+14C>T | not provided [RCV003015202] | likely benign | 16 | 70786201 | 70786201 | Human | | name |
| 156009413 | CV2159910 | single nucleotide variant | NM_018052.5(VAC14):c.704+10G>T | not provided [RCV003017661] | likely benign | 16 | 70783435 | 70783435 | Human | | name |
| 11531319 | CV247553 | single nucleotide variant | NM_018052.5(VAC14):c.1528+1G>A | Striatonigral degeneration, childhood-onset [RCV000239487] | pathogenic | 16 | 70744422 | 70744422 | Human | 1 | name |
| 405081345 | CV2864794 | single nucleotide variant | NM_018052.5(VAC14):c.255+11C>T | not provided [RCV003549256] | likely benign | 16 | 70786204 | 70786204 | Human | | name |
| 405029976 | CV2926105 | single nucleotide variant | NM_018052.5(VAC14):c.811+14G>A | not provided [RCV003578287] | likely benign | 16 | 70783019 | 70783019 | Human | | name |
| 402484023 | CV2937523 | deletion | NM_018052.5(VAC14):c.812-15del | not provided [RCV003659810] | likely benign | 16 | 70782018 | 70782018 | Human | | name |
| 402502969 | CV2937707 | single nucleotide variant | NM_018052.5(VAC14):c.104+17C>T | not provided [RCV003661775] | likely benign | 16 | 70800780 | 70800780 | Human | | name |
| 405233656 | CV2965465 | single nucleotide variant | NM_018052.5(VAC14):c.1161-5C>A | not provided [RCV003682602] | likely benign | 16 | 70763030 | 70763030 | Human | | name |
| 402498782 | CV3038273 | single nucleotide variant | NM_018052.5(VAC14):c.487-11C>G | not provided [RCV003714525] | likely benign | 16 | 70784231 | 70784231 | Human | | name |
| 405087555 | CV3047900 | single nucleotide variant | NM_018052.5(VAC14):c.1097-4C>A | not provided [RCV003717581] | likely benign | 16 | 70772176 | 70772176 | Human | | name |
| 405228526 | CV3065846 | single nucleotide variant | NM_018052.5(VAC14):c.1661+7C>T | not provided [RCV003734484] | likely benign | 16 | 70731488 | 70731488 | Human | | name |
| 405216757 | CV3143433 | single nucleotide variant | NM_018052.5(VAC14):c.705-11C>A | not provided [RCV003846597] | likely benign | 16 | 70783150 | 70783150 | Human | | name |
| 405180472 | CV3147465 | single nucleotide variant | NM_018052.5(VAC14):c.424-19C>G | not provided [RCV003842367] | likely benign | 16 | 70784857 | 70784857 | Human | | name |
| 405178273 | CV3151077 | single nucleotide variant | NM_018052.5(VAC14):c.1837-7C>T | not provided [RCV003842161] | likely benign | 16 | 70697264 | 70697264 | Human | | name |
| 405223851 | CV3151220 | single nucleotide variant | NM_018052.5(VAC14):c.423+15C>T | not provided [RCV003847645] | likely benign | 16 | 70785687 | 70785687 | Human | | name |
| 405084263 | CV3167245 | single nucleotide variant | NM_018052.5(VAC14):c.487-13C>T | not provided [RCV003851826] | likely benign | 16 | 70784233 | 70784233 | Human | | name |
| 597843940 | CV3736058 | single nucleotide variant | NM_018052.5(VAC14):c.705-17C>A | not provided [RCV005065406] | likely benign | 16 | 70783156 | 70783156 | Human | | name |
| 597866096 | CV3742412 | single nucleotide variant | NM_018052.5(VAC14):c.1305+5G>A | not provided [RCV005068028] | uncertain significance | 16 | 70762876 | 70762876 | Human | | name |
| 597917250 | CV3811135 | single nucleotide variant | NM_018052.5(VAC14):c.812-20C>T | not provided [RCV005155170] | likely benign | 16 | 70782023 | 70782023 | Human | | name |
| 597953217 | CV3815965 | single nucleotide variant | NM_018052.5(VAC14):c.1160+8G>A | not provided [RCV005161717] | likely benign | 16 | 70772101 | 70772101 | Human | | name |
| 597959686 | CV3843429 | single nucleotide variant | NM_018052.5(VAC14):c.1096+1G>C | not provided [RCV005192464] | pathogenic | 16 | 70780789 | 70780789 | Human | | name |
| 15125951 | CV760469 | single nucleotide variant | NM_018052.5(VAC14):c.1529-4A>G | not provided [RCV000919243] | benign | 16 | 70731631 | 70731631 | Human | | name |
| 15161984 | CV760473 | single nucleotide variant | NM_018052.5(VAC14):c.1372-5C>T | VAC14-related disorder [RCV003925781]|not provided [RCV000925798] | likely benign | 16 | 70744584 | 70744584 | Human | 1 | name , trait , alternate_id |
| 15157422 | CV779900 | single nucleotide variant | NM_018052.5(VAC14):c.1836+9C>T | not provided [RCV000969304] | benign | 16 | 70698628 | 70698628 | Human | | name |
| 15136666 | CV788066 | single nucleotide variant | NM_018052.5(VAC14):c.1097-9C>T | not provided [RCV000982153] | likely benign | 16 | 70772181 | 70772181 | Human | | name |
| 150331914 | CV1163624 | single nucleotide variant | NM_018052.5(VAC14):c.1836+57C>T | not provided [RCV001528001] | benign | 16 | 70698580 | 70698580 | Human | | name |
| 150336486 | CV1172887 | single nucleotide variant | NM_018052.5(VAC14):c.1306-27G>A | Striatonigral degeneration, childhood-onset [RCV002243299]|not provided [RCV001541010] | benign | 16 | 70762632 | 70762632 | Human | 1 | name |
| 150445667 | CV1215533 | single nucleotide variant | NM_018052.5(VAC14):c.2186+29C>T | not provided [RCV001611126] | benign | 16 | 70692792 | 70692792 | Human | | name |
| 150515083 | CV1217374 | single nucleotide variant | NM_018052.5(VAC14):c.946+227C>T | not provided [RCV001608278] | benign | 16 | 70781642 | 70781642 | Human | | name |
| 150515557 | CV1217532 | single nucleotide variant | NM_018052.5(VAC14):c.1161-30C>T | not provided [RCV001608438] | benign | 16 | 70763055 | 70763055 | Human | | name |
| 150498533 | CV1224153 | single nucleotide variant | NM_018052.5(VAC14):c.812-223G>A | not provided [RCV001620266] | benign | 16 | 70782226 | 70782226 | Human | | name |
| 150508637 | CV1229694 | single nucleotide variant | NM_018052.5(VAC14):c.947-185C>T | not provided [RCV001636272] | benign | 16 | 70781124 | 70781124 | Human | | name |
| 150430252 | CV1232083 | single nucleotide variant | NM_018052.5(VAC14):c.705-133A>G | not provided [RCV001641345] | benign | 16 | 70783272 | 70783272 | Human | | name |
| 150507271 | CV1256891 | single nucleotide variant | NM_018052.5(VAC14):c.2036-66C>G | not provided [RCV001678394] | benign | 16 | 70693037 | 70693037 | Human | | name |
| 150470964 | CV1258706 | single nucleotide variant | NM_018052.5(VAC14):c.594+224C>A | not provided [RCV001684252] | benign | 16 | 70783889 | 70783889 | Human | | name |
| 150462840 | CV1263718 | single nucleotide variant | NM_018052.5(VAC14):c.1836+48G>A | not provided [RCV001682419] | benign | 16 | 70698589 | 70698589 | Human | | name |
| 150491357 | CV1267763 | single nucleotide variant | NM_018052.5(VAC14):c.1662-47C>G | Striatonigral degeneration, childhood-onset [RCV002243413]|not provided [RCV001687788] | benign | 16 | 70698858 | 70698858 | Human | 1 | name |
| 150476110 | CV1271287 | single nucleotide variant | NM_018052.5(VAC14):c.1371+27A>T | not provided [RCV001696110] | benign | 16 | 70762513 | 70762513 | Human | | name |
| 150511811 | CV1284789 | single nucleotide variant | NM_018052.5(VAC14):c.946+142A>C | not provided [RCV001721658] | benign | 16 | 70781727 | 70781727 | Human | | name |
| 152102549 | CV1523919 | single nucleotide variant | NM_018052.5(VAC14):c.947-366G>A | not provided [RCV002133448] | benign | 16 | 70781305 | 70781305 | Human | | name |
| 152083954 | CV1525415 | single nucleotide variant | NM_018052.5(VAC14):c.1528+15G>A | not provided [RCV002131188] | likely benign | 16 | 70744408 | 70744408 | Human | | name |
| 152141550 | CV1532944 | single nucleotide variant | NM_018052.5(VAC14):c.1955+18G>A | not provided [RCV002156837] | benign | 16 | 70697121 | 70697121 | Human | | name |
| 152162722 | CV1537330 | single nucleotide variant | NM_018052.5(VAC14):c.1836+13C>T | not provided [RCV002159932] | likely benign | 16 | 70698624 | 70698624 | Human | | name |
| 152164083 | CV1560441 | single nucleotide variant | NM_018052.5(VAC14):c.1529-11T>C | not provided [RCV002160176] | likely benign | 16 | 70731638 | 70731638 | Human | | name |
| 152086655 | CV1571441 | single nucleotide variant | NM_018052.5(VAC14):c.1371+13C>T | not provided [RCV002131512] | likely benign | 16 | 70762527 | 70762527 | Human | | name |
| 152164881 | CV1588784 | single nucleotide variant | NM_018052.5(VAC14):c.1305+13C>G | not provided [RCV002181623] | likely benign | 16 | 70762868 | 70762868 | Human | | name |
| 152168808 | CV1598164 | single nucleotide variant | NM_018052.5(VAC14):c.1837-12G>A | not provided [RCV002142572] | likely benign | 16 | 70697269 | 70697269 | Human | | name |
| 152092846 | CV1603087 | single nucleotide variant | NM_018052.5(VAC14):c.1661+18G>A | not provided [RCV002194518] | likely benign | 16 | 70731477 | 70731477 | Human | | name |
| 152102643 | CV1605960 | single nucleotide variant | NM_018052.5(VAC14):c.2186+10G>A | not provided [RCV002095732] | benign | 16 | 70692811 | 70692811 | Human | | name |
| 152041294 | CV1617861 | single nucleotide variant | NM_018052.5(VAC14):c.1371+12A>T | not provided [RCV002206379] | likely benign | 16 | 70762528 | 70762528 | Human | | name |
| 152163777 | CV1619092 | single nucleotide variant | NM_018052.5(VAC14):c.1661+13G>A | not provided [RCV002123670] | benign | 16 | 70731482 | 70731482 | Human | | name |
| 152031200 | CV1632531 | single nucleotide variant | NM_018052.5(VAC14):c.1528+14T>G | not provided [RCV002124499] | likely benign | 16 | 70744409 | 70744409 | Human | | name |
| 152116046 | CV1653705 | deletion | NM_018052.5(VAC14):c.2035+19del | not provided [RCV002153668] | likely benign | 16 | 70695525 | 70695525 | Human | | name |
| 152147533 | CV1653706 | single nucleotide variant | NM_018052.5(VAC14):c.2035+18C>G | not provided [RCV002139026] | likely benign | 16 | 70695526 | 70695526 | Human | | name |
| 156405732 | CV1953863 | single nucleotide variant | NM_018052.5(VAC14):c.2036-15C>G | not provided [RCV002585713] | likely benign | 16 | 70692986 | 70692986 | Human | | name |
| 156155359 | CV1957665 | single nucleotide variant | NM_018052.5(VAC14):c.1372-14G>A | not provided [RCV002573038] | likely benign | 16 | 70744593 | 70744593 | Human | | name |
| 156344983 | CV1958129 | single nucleotide variant | NM_018052.5(VAC14):c.1097-18T>G | not provided [RCV002580716] | likely benign | 16 | 70772190 | 70772190 | Human | | name |
| 156406116 | CV1963484 | single nucleotide variant | NM_018052.5(VAC14):c.1371+14G>A | not provided [RCV002585798] | likely benign | 16 | 70762526 | 70762526 | Human | | name |
| 156417417 | CV1966937 | single nucleotide variant | NM_018052.5(VAC14):c.1161-15C>G | not provided [RCV002590179] | likely benign | 16 | 70763040 | 70763040 | Human | | name |
| 156270212 | CV1970913 | single nucleotide variant | NM_018052.5(VAC14):c.1956-10G>A | not provided [RCV002598066] | likely benign|uncertain significance | 16 | 70695633 | 70695633 | Human | | name |
| 156338909 | CV1973959 | single nucleotide variant | NM_018052.5(VAC14):c.1661+12C>T | not provided [RCV002601175] | likely benign | 16 | 70731483 | 70731483 | Human | | name |
| 156263251 | CV1977633 | single nucleotide variant | NM_018052.5(VAC14):c.1161-15C>T | not provided [RCV002597852] | likely benign | 16 | 70763040 | 70763040 | Human | | name |
| 156346374 | CV1989126 | single nucleotide variant | NM_018052.5(VAC14):c.1836+14G>A | not provided [RCV002631702] | likely benign | 16 | 70698623 | 70698623 | Human | | name |
| 156205282 | CV2011183 | single nucleotide variant | NM_018052.5(VAC14):c.1837-12G>C | not provided [RCV002700421] | likely benign | 16 | 70697269 | 70697269 | Human | | name |
| 156198623 | CV2024453 | single nucleotide variant | NM_018052.5(VAC14):c.2187-10C>G | not provided [RCV002711324] | likely benign | 16 | 70688100 | 70688100 | Human | | name |
| 156189415 | CV2030201 | single nucleotide variant | NM_018052.5(VAC14):c.1661+16G>A | not provided [RCV002765862] | likely benign | 16 | 70731479 | 70731479 | Human | | name |
| 156131087 | CV2037448 | single nucleotide variant | NM_018052.5(VAC14):c.1836+10G>A | not provided [RCV002800616] | likely benign | 16 | 70698627 | 70698627 | Human | | name |
| 156268911 | CV2136385 | single nucleotide variant | NM_018052.5(VAC14):c.1836+10G>C | not provided [RCV003009194] | likely benign | 16 | 70698627 | 70698627 | Human | | name |
| 155978000 | CV2157038 | single nucleotide variant | NM_018052.5(VAC14):c.1305+16C>T | not provided [RCV003016242] | likely benign | 16 | 70762865 | 70762865 | Human | | name |
| 156099439 | CV2179939 | single nucleotide variant | NM_018052.5(VAC14):c.1305+15C>T | not provided [RCV003054668] | likely benign | 16 | 70762866 | 70762866 | Human | | name |
| 405166638 | CV2857617 | single nucleotide variant | NM_018052.5(VAC14):c.1529-19T>C | not provided [RCV003541839] | likely benign | 16 | 70731646 | 70731646 | Human | | name |
| 405189889 | CV2871200 | single nucleotide variant | NM_018052.5(VAC14):c.1306-14T>G | not provided [RCV003550306] | likely benign | 16 | 70762619 | 70762619 | Human | | name |
| 405094236 | CV2874675 | single nucleotide variant | NM_018052.5(VAC14):c.1529-14C>A | not provided [RCV003550127] | likely benign | 16 | 70731641 | 70731641 | Human | | name |
| 405083817 | CV2946411 | single nucleotide variant | NM_018052.5(VAC14):c.2035+12C>G | not provided [RCV003664809] | likely benign | 16 | 70695532 | 70695532 | Human | | name |
| 405094943 | CV2947382 | single nucleotide variant | NM_018052.5(VAC14):c.2187-10C>T | not provided [RCV003665567] | likely benign | 16 | 70688100 | 70688100 | Human | | name |
| 405119201 | CV2955975 | single nucleotide variant | NM_018052.5(VAC14):c.2186+17G>A | not provided [RCV003671283] | likely benign | 16 | 70692804 | 70692804 | Human | | name |
| 405116838 | CV2961711 | single nucleotide variant | NM_018052.5(VAC14):c.1161-14G>C | not provided [RCV003671039] | likely benign | 16 | 70763039 | 70763039 | Human | | name |
| 404980146 | CV3120966 | single nucleotide variant | NM_018052.5(VAC14):c.1528+13C>T | not provided [RCV003825958] | likely benign | 16 | 70744410 | 70744410 | Human | | name |
| 405164430 | CV3125324 | single nucleotide variant | NM_018052.5(VAC14):c.1371+18C>A | not provided [RCV003818596] | likely benign | 16 | 70762522 | 70762522 | Human | | name |
| 405051184 | CV3150968 | single nucleotide variant | NM_018052.5(VAC14):c.2036-20C>G | not provided [RCV003849572] | likely benign | 16 | 70692991 | 70692991 | Human | | name |
| 405133066 | CV3163862 | single nucleotide variant | NM_018052.5(VAC14):c.1372-19G>T | not provided [RCV003854850] | likely benign | 16 | 70744598 | 70744598 | Human | | name |
| 405243119 | CV3164731 | single nucleotide variant | NM_018052.5(VAC14):c.1372-15C>T | not provided [RCV003867812] | likely benign | 16 | 70744594 | 70744594 | Human | | name |
| 405250327 | CV3180705 | single nucleotide variant | NM_018052.5(VAC14):c.2187-12C>T | not provided [RCV003869982] | likely benign | 16 | 70688102 | 70688102 | Human | | name |
| 597916008 | CV3737334 | single nucleotide variant | NM_018052.5(VAC14):c.1661+15C>T | not provided [RCV005074123] | likely benign | 16 | 70731480 | 70731480 | Human | | name |
| 597841089 | CV3825454 | single nucleotide variant | NM_018052.5(VAC14):c.1529-17T>C | not provided [RCV005172137] | likely benign | 16 | 70731644 | 70731644 | Human | | name |
| 597972109 | CV3829400 | single nucleotide variant | NM_018052.5(VAC14):c.1371+20C>T | not provided [RCV005167187] | likely benign | 16 | 70762520 | 70762520 | Human | | name |
| 597915676 | CV3860896 | single nucleotide variant | NM_018052.5(VAC14):c.1836+18C>T | not provided [RCV005204259] | likely benign | 16 | 70698619 | 70698619 | Human | | name |
| 150335001 | CV1172886 | duplication | NM_018052.5(VAC14):c.2186+143dup | not provided [RCV001540349] | benign | 16 | 70692671 | 70692672 | Human | | name |
| 150446183 | CV1215618 | single nucleotide variant | NM_018052.5(VAC14):c.2186+148C>A | not provided [RCV001611211] | benign | 16 | 70692673 | 70692673 | Human | | name |
| 150475558 | CV1216683 | single nucleotide variant | NM_018052.5(VAC14):c.1837-142C>T | not provided [RCV001615976] | benign | 16 | 70697399 | 70697399 | Human | | name |
| 150463700 | CV1237669 | single nucleotide variant | NM_018052.5(VAC14):c.2187-110C>G | not provided [RCV001649675] | benign | 16 | 70688200 | 70688200 | Human | | name |
| 150500836 | CV1238260 | single nucleotide variant | NM_018052.5(VAC14):c.1837-168T>C | not provided [RCV001656690] | benign | 16 | 70697425 | 70697425 | Human | | name |
| 150475869 | CV1251778 | single nucleotide variant | NM_018052.5(VAC14):c.1837-184A>G | not provided [RCV001671976] | benign | 16 | 70697441 | 70697441 | Human | | name |
| 150465599 | CV1277265 | single nucleotide variant | NM_018052.5(VAC14):c.1662-194G>C | not provided [RCV001710559] | benign | 16 | 70699005 | 70699005 | Human | | name |
| 401934559 | CV2817628 | single nucleotide variant | NM_018052.5(VAC14):c.2186+825G>A | not provided [RCV003411388] | likely benign | 16 | 70691996 | 70691996 | Human | | name |
| 8585096 | CV119676 | single nucleotide variant | NM_018052.3(VAC14):c.1529-3325G>T | Lung cancer [RCV000100196] | uncertain significance | 16 | 70734952 | 70734952 | Human | | name |
| 8649163 | CV119677 | single nucleotide variant | NM_018052.3(VAC14):c.1096+1388A>T | Lung cancer [RCV000100197] | uncertain significance | 16 | 70779402 | 70779402 | Human | | name |
| 151752987 | CV1424530 | deletion | NM_018052.5(VAC14):c.595-10_595del | not provided [RCV001894530] | likely pathogenic|uncertain significance | 16 | 70783554 | 70783564 | Human | | name |
| 156323963 | CV1975402 | single nucleotide variant | NM_018052.5(VAC14):c.9C>G (p.Pro3=) | not provided [RCV002630534] | likely benign | 16 | 70800892 | 70800892 | Human | | name |
| 156075001 | CV1985536 | microsatellite | NM_018052.5(VAC14):c.1161-22TCCC[3] | not provided [RCV002638715] | likely benign | 16 | 70763039 | 70763040 | Human | | name |
| 597879954 | CV3826323 | single nucleotide variant | NM_018052.5(VAC14):c.27G>C (p.Pro9=) | not provided [RCV005178019] | likely benign | 16 | 70800874 | 70800874 | Human | | name |
| 150479447 | CV1239386 | single nucleotide variant | NM_018052.5(VAC14):c.48C>T (p.Arg16=) | VAC14-related disorder [RCV003921302]|not provided [RCV001652549] | benign | 16 | 70800853 | 70800853 | Human | 1 | name , trait , alternate_id |
| 156335614 | CV1954416 | inversion | NM_018052.5(VAC14):c.424-18_424-17inv | not provided [RCV002580232] | uncertain significance | 16 | 70784855 | 70784856 | Human | | name |
| 156242531 | CV1981480 | single nucleotide variant | NM_018052.5(VAC14):c.90G>T (p.Ala30=) | not provided [RCV002645624] | likely benign | 16 | 70800811 | 70800811 | Human | | name |
| 156155308 | CV1987680 | microsatellite | NM_018052.5(VAC14):c.256-15_256-13del | not provided [RCV002642212] | likely benign | 16 | 70785882 | 70785884 | Human | | name |
| 156058366 | CV2102187 | deletion | NM_018052.5(VAC14):c.1161-6_1161-3del | not provided [RCV002886413] | likely benign | 16 | 70763028 | 70763031 | Human | | name |
| 597886311 | CV3787395 | single nucleotide variant | NM_018052.5(VAC14):c.30C>G (p.Leu10=) | not provided [RCV005124961] | likely benign | 16 | 70800871 | 70800871 | Human | | name |
| 15198269 | CV755366 | single nucleotide variant | NM_018052.5(VAC14):c.91C>T (p.Leu31=) | not provided [RCV000912210] | likely benign | 16 | 70800810 | 70800810 | Human | | name |
| 15154002 | CV755367 | single nucleotide variant | NM_018052.5(VAC14):c.63G>A (p.Lys21=) | VAC14-related disorder [RCV003923307]|not provided [RCV000924171] | benign|likely benign | 16 | 70800838 | 70800838 | Human | 1 | name , trait , alternate_id |
| 15102907 | CV755368 | single nucleotide variant | NM_018052.5(VAC14):c.33G>C (p.Thr11=) | not provided [RCV000915059] | likely benign | 16 | 70800868 | 70800868 | Human | | name |
| 151769650 | CV1460264 | single nucleotide variant | NM_018052.5(VAC14):c.264G>T (p.Gly88=) | not provided [RCV001863952] | likely benign|uncertain significance | 16 | 70785861 | 70785861 | Human | | name |
| 152084161 | CV1525442 | single nucleotide variant | NM_018052.5(VAC14):c.184C>T (p.Leu62=) | not provided [RCV002131212] | likely benign | 16 | 70786286 | 70786286 | Human | | name |
| 152139443 | CV1638175 | single nucleotide variant | NM_018052.5(VAC14):c.267C>T (p.Leu89=) | not provided [RCV002177862] | likely benign | 16 | 70785858 | 70785858 | Human | | name |
| 152058141 | CV1651964 | single nucleotide variant | NM_018052.5(VAC14):c.138C>T (p.Thr46=) | not provided [RCV002190213] | likely benign | 16 | 70786332 | 70786332 | Human | | name |
| 152120001 | CV1654873 | single nucleotide variant | NM_018052.5(VAC14):c.219C>T (p.Leu73=) | not provided [RCV002216648] | likely benign | 16 | 70786251 | 70786251 | Human | | name |
| 152088018 | CV1655537 | single nucleotide variant | NM_018052.5(VAC14):c.129G>A (p.Gln43=) | not provided [RCV002193903] | likely benign | 16 | 70786341 | 70786341 | Human | | name |
| 156291275 | CV1886993 | single nucleotide variant | NM_018052.5(VAC14):c.231C>T (p.Ala77=) | not provided [RCV003087495] | likely benign | 16 | 70786239 | 70786239 | Human | | name |
| 156359259 | CV1897986 | single nucleotide variant | NM_018052.5(VAC14):c.120C>T (p.Phe40=) | not provided [RCV002602379] | likely benign | 16 | 70786350 | 70786350 | Human | | name |
| 156317466 | CV1903856 | single nucleotide variant | NM_018052.5(VAC14):c.273G>A (p.Leu91=) | not provided [RCV003088804] | likely benign | 16 | 70785852 | 70785852 | Human | | name |
| 156436755 | CV1940329 | single nucleotide variant | NM_018052.5(VAC14):c.216C>T (p.Gly72=) | not provided [RCV003106279] | likely benign | 16 | 70786254 | 70786254 | Human | | name |
| 156407541 | CV1957524 | single nucleotide variant | NM_018052.5(VAC14):c.285C>T (p.Ile95=) | not provided [RCV002586261] | likely benign | 16 | 70785840 | 70785840 | Human | | name |
| 155946350 | CV1999584 | single nucleotide variant | NM_018052.5(VAC14):c.247C>T (p.Leu83=) | not provided [RCV002685764] | likely benign | 16 | 70786223 | 70786223 | Human | | name |
| 401911752 | CV2817629 | single nucleotide variant | NM_018052.5(VAC14):c.138C>A (p.Thr46=) | not provided [RCV003426760] | likely benign | 16 | 70786332 | 70786332 | Human | | name |
| 402501137 | CV2923213 | deletion | NM_018052.5(VAC14):c.56del (p.Asn19fs) | not provided [RCV003574002] | pathogenic | 16 | 70800845 | 70800845 | Human | | name |
| 405076014 | CV2948606 | single nucleotide variant | NM_018052.5(VAC14):c.111C>G (p.Val37=) | not provided [RCV003664263] | likely benign | 16 | 70786359 | 70786359 | Human | | name |
| 405202799 | CV2989313 | single nucleotide variant | NM_018052.5(VAC14):c.243C>A (p.Ile81=) | not provided [RCV003678356] | likely benign | 16 | 70786227 | 70786227 | Human | | name |
| 407529337 | CV3493288 | single nucleotide variant | NM_018052.5(VAC14):c.22G>A (p.Ala8Thr) | Inborn genetic diseases [RCV004680845] | uncertain significance | 16 | 70800879 | 70800879 | Human | 1 | name |
| 597906103 | CV3853223 | single nucleotide variant | NM_018052.5(VAC14):c.213G>C (p.Gly71=) | not provided [RCV005202880] | likely benign | 16 | 70786257 | 70786257 | Human | | name |
| 126730439 | CV1000947 | single nucleotide variant | NM_018052.5(VAC14):c.894C>T (p.Ser298=) | not provided [RCV001310335] | likely benign | 16 | 70781921 | 70781921 | Human | | name |
| 150513436 | CV1211930 | single nucleotide variant | NM_018052.5(VAC14):c.432C>T (p.Ala144=) | not provided [RCV001598451] | benign | 16 | 70784830 | 70784830 | Human | | name |
| 152175918 | CV1580181 | single nucleotide variant | NM_018052.5(VAC14):c.609G>A (p.Glu203=) | not provided [RCV002164056] | likely benign | 16 | 70783540 | 70783540 | Human | | name |
| 152079759 | CV1632500 | single nucleotide variant | NM_018052.5(VAC14):c.378C>T (p.Gly126=) | not provided [RCV002130679] | likely benign | 16 | 70785747 | 70785747 | Human | | name |
| 156356071 | CV1894904 | single nucleotide variant | NM_018052.5(VAC14):c.456C>T (p.Ser152=) | not provided [RCV003091365] | likely benign | 16 | 70784806 | 70784806 | Human | | name |
| 156027820 | CV1906845 | single nucleotide variant | NM_018052.5(VAC14):c.411C>T (p.Asp137=) | not provided [RCV003100508] | likely benign | 16 | 70785714 | 70785714 | Human | | name |
| 156368459 | CV1922549 | single nucleotide variant | NM_018052.5(VAC14):c.56A>G (p.Asn19Ser) | not provided [RCV002633190] | uncertain significance | 16 | 70800845 | 70800845 | Human | | name |
| 156438741 | CV1947357 | single nucleotide variant | NM_018052.5(VAC14):c.840C>T (p.Cys280=) | VAC14-related disorder [RCV003963800]|not provided [RCV003108687] | likely benign | 16 | 70781975 | 70781975 | Human | 1 | name , trait , alternate_id |
| 156343066 | CV1957984 | single nucleotide variant | NM_018052.5(VAC14):c.756C>T (p.Ser252=) | not provided [RCV002580612] | likely benign | 16 | 70783088 | 70783088 | Human | | name |
| 156412219 | CV1970332 | single nucleotide variant | NM_018052.5(VAC14):c.966C>T (p.Asn322=) | not provided [RCV002608477] | likely benign | 16 | 70780920 | 70780920 | Human | | name |
| 156278175 | CV1971233 | single nucleotide variant | NM_018052.5(VAC14):c.621C>T (p.Asp207=) | not provided [RCV002598308] | likely benign | 16 | 70783528 | 70783528 | Human | | name |
| 156184286 | CV2020609 | single nucleotide variant | NM_018052.5(VAC14):c.631C>T (p.Leu211=) | not provided [RCV002710880] | likely benign | 16 | 70783518 | 70783518 | Human | | name |
| 155935736 | CV2045738 | single nucleotide variant | NM_018052.5(VAC14):c.351C>G (p.Leu117=) | not provided [RCV002751442] | likely benign | 16 | 70785774 | 70785774 | Human | | name |
| 156116150 | CV2058487 | single nucleotide variant | NM_018052.5(VAC14):c.645G>T (p.Pro215=) | not provided [RCV002825114] | likely benign | 16 | 70783504 | 70783504 | Human | | name |
| 156305455 | CV2079758 | single nucleotide variant | NM_018052.5(VAC14):c.498T>A (p.Thr166=) | not provided [RCV002857383] | likely benign | 16 | 70784209 | 70784209 | Human | | name |
| 156089406 | CV2132244 | single nucleotide variant | NM_018052.5(VAC14):c.373C>A (p.Arg125=) | not provided [RCV002979546] | likely benign | 16 | 70785752 | 70785752 | Human | | name |
| 401887465 | CV2771954 | single nucleotide variant | NM_018052.5(VAC14):c.86C>T (p.Ala29Val) | Inborn genetic diseases [RCV003352402] | uncertain significance | 16 | 70800815 | 70800815 | Human | 1 | name |
| 402521340 | CV2867280 | single nucleotide variant | NM_018052.5(VAC14):c.510G>A (p.Lys170=) | not provided [RCV003547716] | likely benign | 16 | 70784197 | 70784197 | Human | | name |
| 405218898 | CV2873685 | single nucleotide variant | NM_018052.5(VAC14):c.660A>T (p.Gly220=) | not provided [RCV003553508] | likely benign | 16 | 70783489 | 70783489 | Human | | name |
| 402467399 | CV2910360 | single nucleotide variant | NM_018052.5(VAC14):c.477C>A (p.Arg159=) | not provided [RCV003569605] | likely benign | 16 | 70784785 | 70784785 | Human | | name |
| 405214409 | CV2981394 | single nucleotide variant | NM_018052.5(VAC14):c.322A>C (p.Arg108=) | not provided [RCV003709124] | likely benign | 16 | 70785803 | 70785803 | Human | | name |
| 405191505 | CV2984836 | single nucleotide variant | NM_018052.5(VAC14):c.603T>A (p.Val201=) | not provided [RCV003706505] | likely benign | 16 | 70783546 | 70783546 | Human | | name |
| 402484421 | CV3036828 | single nucleotide variant | NM_018052.5(VAC14):c.654G>T (p.Leu218=) | not provided [RCV003713159] | likely benign | 16 | 70783495 | 70783495 | Human | | name |
| 402520984 | CV3126846 | single nucleotide variant | NM_018052.5(VAC14):c.873C>A (p.Arg291=) | not provided [RCV003824764] | likely benign | 16 | 70781942 | 70781942 | Human | | name |
| 405017787 | CV3135280 | single nucleotide variant | NM_018052.5(VAC14):c.645G>A (p.Pro215=) | not provided [RCV003829551] | likely benign | 16 | 70783504 | 70783504 | Human | | name |
| 402516142 | CV3135796 | single nucleotide variant | NM_018052.5(VAC14):c.414G>A (p.Gly138=) | not provided [RCV003824422] | likely benign | 16 | 70785711 | 70785711 | Human | | name |
| 405212512 | CV3142679 | single nucleotide variant | NM_018052.5(VAC14):c.417G>A (p.Leu139=) | not provided [RCV003846036] | likely benign | 16 | 70785708 | 70785708 | Human | | name |
| 405201029 | CV3143507 | single nucleotide variant | NM_018052.5(VAC14):c.786C>T (p.Ile262=) | not provided [RCV003844493] | likely benign | 16 | 70783058 | 70783058 | Human | | name |
| 405179326 | CV3147360 | single nucleotide variant | NM_018052.5(VAC14):c.363C>G (p.Val121=) | not provided [RCV003842262] | likely benign | 16 | 70785762 | 70785762 | Human | | name |
| 405062689 | CV3148437 | single nucleotide variant | NM_018052.5(VAC14):c.333C>T (p.Tyr111=) | not provided [RCV003850393] | likely benign | 16 | 70785792 | 70785792 | Human | | name |
| 405169162 | CV3155451 | single nucleotide variant | NM_018052.5(VAC14):c.399C>T (p.Asn133=) | not provided [RCV003857673] | likely benign | 16 | 70785726 | 70785726 | Human | | name |
| 597883800 | CV3745402 | single nucleotide variant | NM_018052.5(VAC14):c.576G>A (p.Arg192=) | not provided [RCV005070238] | likely benign | 16 | 70784131 | 70784131 | Human | | name |
| 597955650 | CV3754450 | single nucleotide variant | NM_018052.5(VAC14):c.714T>G (p.Val238=) | not provided [RCV005080300] | likely benign | 16 | 70783130 | 70783130 | Human | | name |
| 597894669 | CV3810088 | single nucleotide variant | NM_018052.5(VAC14):c.591C>T (p.Ser197=) | not provided [RCV005151809] | likely benign | 16 | 70784116 | 70784116 | Human | | name |
| 597962602 | CV3841034 | single nucleotide variant | NM_018052.5(VAC14):c.825G>A (p.Gln275=) | not provided [RCV005193327] | likely benign | 16 | 70781990 | 70781990 | Human | | name |
| 597954098 | CV3844340 | single nucleotide variant | NM_018052.5(VAC14):c.528C>T (p.Phe176=) | not provided [RCV005191013] | likely benign | 16 | 70784179 | 70784179 | Human | | name |
| 616939620 | CV4014117 | single nucleotide variant | NM_018052.5(VAC14):c.969G>A (p.Val323=) | not provided [RCV005413609] | likely benign | 16 | 70780917 | 70780917 | Human | | name |
| 15177933 | CV715044 | single nucleotide variant | NM_018052.5(VAC14):c.612G>A (p.Ser204=) | not provided [RCV000973545] | benign|likely benign | 16 | 70783537 | 70783537 | Human | | name |
| 15196676 | CV726769 | single nucleotide variant | NM_018052.5(VAC14):c.880C>T (p.Leu294=) | not provided [RCV000889839] | benign|likely benign | 16 | 70781935 | 70781935 | Human | | name |
| 15181793 | CV726770 | single nucleotide variant | NM_018052.5(VAC14):c.873C>T (p.Arg291=) | VAC14-related disorder [RCV003975577]|not provided [RCV000885844] | likely benign | 16 | 70781942 | 70781942 | Human | 1 | name , trait , alternate_id |
| 15124930 | CV755364 | single nucleotide variant | NM_018052.5(VAC14):c.930C>T (p.Tyr310=) | not provided [RCV000919065] | likely benign | 16 | 70781885 | 70781885 | Human | | name |
| 15192889 | CV771049 | single nucleotide variant | NM_018052.5(VAC14):c.492T>C (p.Ile164=) | VAC14-related disorder [RCV003942914]|not provided [RCV000933209] | likely benign | 16 | 70784215 | 70784215 | Human | 1 | name , trait , alternate_id |
| 150485913 | CV1223098 | single nucleotide variant | NM_018052.5(VAC14):c.2115G>T (p.Pro705=) | Striatonigral degeneration, childhood-onset [RCV002243340]|not provided [RCV001617811] | benign | 16 | 70692892 | 70692892 | Human | 1 | name |
| 150493390 | CV1257544 | single nucleotide variant | NM_018052.5(VAC14):c.1002C>T (p.Pro334=) | VAC14-related disorder [RCV003975904]|not provided [RCV001675217] | benign | 16 | 70780884 | 70780884 | Human | 1 | name , trait , alternate_id |
| 151853110 | CV1349202 | single nucleotide variant | NM_018052.5(VAC14):c.1008C>T (p.Asp336=) | not provided [RCV001923060] | likely benign | 16 | 70780878 | 70780878 | Human | | name |
| 151856792 | CV1410326 | single nucleotide variant | NM_018052.5(VAC14):c.169T>A (p.Ser57Thr) | Inborn genetic diseases [RCV004970629]|not provided [RCV001996635] | uncertain significance | 16 | 70786301 | 70786301 | Human | 1 | name |
| 152121328 | CV1521430 | single nucleotide variant | NM_018052.5(VAC14):c.2148G>T (p.Arg716=) | not provided [RCV002135745] | likely benign | 16 | 70692859 | 70692859 | Human | | name |
| 152126490 | CV1533808 | single nucleotide variant | NM_018052.5(VAC14):c.1446C>T (p.Pro482=) | not provided [RCV002136383] | likely benign | 16 | 70744505 | 70744505 | Human | | name |
| 152109244 | CV1556489 | single nucleotide variant | NM_018052.5(VAC14):c.1515A>C (p.Leu505=) | not provided [RCV002096618] | likely benign | 16 | 70744436 | 70744436 | Human | | name |
| 152062142 | CV1558480 | single nucleotide variant | NM_018052.5(VAC14):c.1581T>C (p.Phe527=) | not provided [RCV002128462] | likely benign | 16 | 70731575 | 70731575 | Human | | name |
| 152155400 | CV1572855 | single nucleotide variant | NM_018052.5(VAC14):c.1674C>T (p.Leu558=) | not provided [RCV002180056] | likely benign | 16 | 70698799 | 70698799 | Human | | name |
| 152044349 | CV1584260 | single nucleotide variant | NM_018052.5(VAC14):c.1776C>A (p.Ile592=) | not provided [RCV002071417] | likely benign | 16 | 70698697 | 70698697 | Human | | name |
| 152082633 | CV1589615 | single nucleotide variant | NM_018052.5(VAC14):c.2082C>T (p.Ile694=) | not provided [RCV002112962] | likely benign | 16 | 70692925 | 70692925 | Human | | name |
| 152165764 | CV1612662 | single nucleotide variant | NM_018052.5(VAC14):c.1194C>T (p.Asp398=) | not provided [RCV002160512] | likely benign | 16 | 70762992 | 70762992 | Human | | name |
| 152084935 | CV1622974 | single nucleotide variant | NM_018052.5(VAC14):c.1932C>T (p.His644=) | not provided [RCV002113254] | likely benign | 16 | 70697162 | 70697162 | Human | | name |
| 152151907 | CV1626664 | single nucleotide variant | NM_018052.5(VAC14):c.1704A>G (p.Ser568=) | not provided [RCV002202100] | likely benign | 16 | 70698769 | 70698769 | Human | | name |
| 152135962 | CV1634538 | single nucleotide variant | NM_018052.5(VAC14):c.1224C>T (p.Leu408=) | not provided [RCV002218718] | likely benign | 16 | 70762962 | 70762962 | Human | | name |
| 152108442 | CV1634872 | single nucleotide variant | NM_018052.5(VAC14):c.1749G>A (p.Ser583=) | not provided [RCV002079919] | likely benign | 16 | 70698724 | 70698724 | Human | | name |
| 152100894 | CV1648934 | single nucleotide variant | NM_018052.5(VAC14):c.1761C>T (p.His587=) | not provided [RCV002213989] | likely benign | 16 | 70698712 | 70698712 | Human | | name |
| 152080427 | CV1663639 | single nucleotide variant | NM_018052.5(VAC14):c.1275C>T (p.Leu425=) | not provided [RCV002149237] | benign | 16 | 70762911 | 70762911 | Human | | name |
| 155746806 | CV1778067 | single nucleotide variant | NM_018052.5(VAC14):c.193C>A (p.His65Asn) | not provided [RCV002303452] | uncertain significance | 16 | 70786277 | 70786277 | Human | | name |
| 156318887 | CV1900223 | single nucleotide variant | NM_018052.5(VAC14):c.2254C>T (p.Leu752=) | not provided [RCV003088879] | likely benign | 16 | 70688023 | 70688023 | Human | | name |
| 156295262 | CV1904584 | single nucleotide variant | NM_018052.5(VAC14):c.1896G>T (p.Thr632=) | not provided [RCV002598920] | likely benign | 16 | 70697198 | 70697198 | Human | | name |
| 156267881 | CV1919045 | single nucleotide variant | NM_018052.5(VAC14):c.1356G>A (p.Ser452=) | not provided [RCV002627992] | likely benign | 16 | 70762555 | 70762555 | Human | | name |
| 156299238 | CV1919863 | single nucleotide variant | NM_018052.5(VAC14):c.1062C>T (p.Asp354=) | not provided [RCV002599087] | likely benign | 16 | 70780824 | 70780824 | Human | | name |
| 156202876 | CV1925800 | single nucleotide variant | NM_018052.5(VAC14):c.2184C>T (p.Thr728=) | not provided [RCV002643698] | likely benign | 16 | 70692823 | 70692823 | Human | | name |
| 156310431 | CV1928364 | single nucleotide variant | NM_018052.5(VAC14):c.1431G>A (p.Thr477=) | not provided [RCV002648131] | likely benign | 16 | 70744520 | 70744520 | Human | | name |
| 156332444 | CV1954200 | single nucleotide variant | NM_018052.5(VAC14):c.1566C>T (p.Thr522=) | not provided [RCV002580074] | likely benign | 16 | 70731590 | 70731590 | Human | | name |
| 156155165 | CV1957640 | single nucleotide variant | NM_018052.5(VAC14):c.1011C>T (p.Asp337=) | not provided [RCV002573031] | likely benign | 16 | 70780875 | 70780875 | Human | | name |
| 156379654 | CV1968408 | single nucleotide variant | NM_018052.5(VAC14):c.2058C>T (p.Asp686=) | not provided [RCV002603874] | likely benign | 16 | 70692949 | 70692949 | Human | | name |
| 156349937 | CV1978209 | single nucleotide variant | NM_018052.5(VAC14):c.1365G>A (p.Ser455=) | not provided [RCV002601749] | likely benign | 16 | 70762546 | 70762546 | Human | | name |
| 155988858 | CV1979755 | single nucleotide variant | NM_018052.5(VAC14):c.1977G>T (p.Val659=) | not provided [RCV002617930] | likely benign | 16 | 70695602 | 70695602 | Human | | name |
| 156339150 | CV1984697 | single nucleotide variant | NM_018052.5(VAC14):c.1890C>T (p.Val630=) | not provided [RCV002631338] | likely benign | 16 | 70697204 | 70697204 | Human | | name |
| 156209564 | CV1987067 | single nucleotide variant | NM_018052.5(VAC14):c.1608G>A (p.Lys536=) | not provided [RCV002626028] | likely benign | 16 | 70731548 | 70731548 | Human | | name |
| 155993201 | CV1990606 | single nucleotide variant | NM_018052.5(VAC14):c.1200C>T (p.Ile400=) | not provided [RCV002618111] | likely benign | 16 | 70762986 | 70762986 | Human | | name |
| 156237399 | CV1992403 | single nucleotide variant | NM_018052.5(VAC14):c.1878C>T (p.Cys626=) | not provided [RCV002627017] | likely benign | 16 | 70697216 | 70697216 | Human | | name |
| 156390141 | CV1998609 | single nucleotide variant | NM_018052.5(VAC14):c.215G>A (p.Gly72Asp) | not provided [RCV002680682] | uncertain significance | 16 | 70786255 | 70786255 | Human | | name |
| 156371217 | CV2007772 | single nucleotide variant | NM_018052.5(VAC14):c.2103C>G (p.Leu701=) | not provided [RCV002676917] | likely benign | 16 | 70692904 | 70692904 | Human | | name |
| 156125835 | CV2046752 | single nucleotide variant | NM_018052.5(VAC14):c.2133G>A (p.Gln711=) | not provided [RCV002800414] | likely benign | 16 | 70692874 | 70692874 | Human | | name |
| 156163924 | CV2097012 | single nucleotide variant | NM_018052.5(VAC14):c.2346C>G (p.Leu782=) | not provided [RCV002872763] | likely benign | 16 | 70687931 | 70687931 | Human | | name |
| 156080468 | CV2158429 | single nucleotide variant | NM_018052.5(VAC14):c.1047A>G (p.Ala349=) | not provided [RCV003037864] | likely benign | 16 | 70780839 | 70780839 | Human | | name |
| 156190682 | CV2165976 | single nucleotide variant | NM_018052.5(VAC14):c.1320G>T (p.Thr440=) | not provided [RCV003041641] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 70762591 | 70762591 | Human | | name |
| 156274471 | CV2202620 | single nucleotide variant | NM_018052.5(VAC14):c.193C>T (p.His65Tyr) | Inborn genetic diseases [RCV002669752] | uncertain significance | 16 | 70786277 | 70786277 | Human | 1 | name |
| 155969707 | CV2262145 | single nucleotide variant | NM_018052.5(VAC14):c.137C>T (p.Thr46Ile) | Inborn genetic diseases [RCV002817592] | uncertain significance | 16 | 70786333 | 70786333 | Human | 1 | name |
| 329351655 | CV2459233 | single nucleotide variant | NM_018052.5(VAC14):c.139G>A (p.Val47Met) | Inborn genetic diseases [RCV003199946] | uncertain significance | 16 | 70786331 | 70786331 | Human | 1 | name |
| 402504346 | CV2947454 | single nucleotide variant | NM_018052.5(VAC14):c.2154G>A (p.Gln718=) | not provided [RCV003661920] | likely benign | 16 | 70692853 | 70692853 | Human | | name |
| 405137550 | CV2954451 | single nucleotide variant | NM_018052.5(VAC14):c.2001G>A (p.Lys667=) | not provided [RCV003672944] | likely benign | 16 | 70695578 | 70695578 | Human | | name |
| 402493702 | CV2981285 | single nucleotide variant | NM_018052.5(VAC14):c.1965G>A (p.Leu655=) | not provided [RCV003713927] | likely benign | 16 | 70695614 | 70695614 | Human | | name |
| 402503742 | CV3007221 | single nucleotide variant | NM_018052.5(VAC14):c.2277G>A (p.Gln759=) | not provided [RCV003688766] | likely benign | 16 | 70688000 | 70688000 | Human | | name |
| 405148414 | CV3024235 | single nucleotide variant | NM_018052.5(VAC14):c.1378C>T (p.Leu460=) | not provided [RCV003703111] | likely benign | 16 | 70744573 | 70744573 | Human | | name |
| 405222451 | CV3038765 | single nucleotide variant | NM_018052.5(VAC14):c.1491G>T (p.Val497=) | not provided [RCV003710174] | likely benign | 16 | 70744460 | 70744460 | Human | | name |
| 405180329 | CV3060557 | single nucleotide variant | NM_018052.5(VAC14):c.1803G>A (p.Gln601=) | not provided [RCV003728710] | likely benign | 16 | 70698670 | 70698670 | Human | | name |
| 405150864 | CV3063743 | single nucleotide variant | NM_018052.5(VAC14):c.2094C>T (p.Tyr698=) | not provided [RCV003726409] | likely benign | 16 | 70692913 | 70692913 | Human | | name |
| 405206449 | CV3064326 | single nucleotide variant | NM_018052.5(VAC14):c.2238C>T (p.Ile746=) | not provided [RCV003731371] | likely benign | 16 | 70688039 | 70688039 | Human | | name |
| 405208456 | CV3064716 | single nucleotide variant | NM_018052.5(VAC14):c.2103C>T (p.Leu701=) | not provided [RCV003731562] | likely benign | 16 | 70692904 | 70692904 | Human | | name |
| 405204829 | CV3068021 | single nucleotide variant | NM_018052.5(VAC14):c.1407C>T (p.Ile469=) | not provided [RCV003731200] | likely benign | 16 | 70744544 | 70744544 | Human | | name |
| 405103431 | CV3116253 | single nucleotide variant | NM_018052.5(VAC14):c.1638G>A (p.Glu546=) | not provided [RCV003811969] | likely benign | 16 | 70731518 | 70731518 | Human | | name |
| 405113068 | CV3133593 | single nucleotide variant | NM_018052.5(VAC14):c.2100G>A (p.Leu700=) | not provided [RCV003836386] | likely benign | 16 | 70692907 | 70692907 | Human | | name |
| 405095163 | CV3134753 | single nucleotide variant | NM_018052.5(VAC14):c.1524C>T (p.Thr508=) | not provided [RCV003835099] | likely benign | 16 | 70744427 | 70744427 | Human | | name |
| 405215495 | CV3143191 | single nucleotide variant | NM_018052.5(VAC14):c.1780C>T (p.Leu594=) | not provided [RCV003846354] | likely benign | 16 | 70698693 | 70698693 | Human | | name |
| 405218593 | CV3143868 | single nucleotide variant | NM_018052.5(VAC14):c.2055G>A (p.Leu685=) | not provided [RCV003846838] | likely benign | 16 | 70692952 | 70692952 | Human | | name |
| 405158242 | CV3152644 | single nucleotide variant | NM_018052.5(VAC14):c.1300C>A (p.Arg434=) | not provided [RCV003840571] | likely benign | 16 | 70762886 | 70762886 | Human | | name |
| 405216422 | CV3160839 | single nucleotide variant | NM_018052.5(VAC14):c.1929G>A (p.Arg643=) | not provided [RCV003862901] | likely benign | 16 | 70697165 | 70697165 | Human | | name |
| 405244129 | CV3161199 | single nucleotide variant | NM_018052.5(VAC14):c.1869C>A (p.Arg623=) | not provided [RCV003868108] | likely benign | 16 | 70697225 | 70697225 | Human | | name |
| 597642712 | CV3633086 | single nucleotide variant | NM_018052.5(VAC14):c.159C>G (p.Ile53Met) | Inborn genetic diseases [RCV004972045] | uncertain significance | 16 | 70786311 | 70786311 | Human | 1 | name |
| 597859798 | CV3744687 | single nucleotide variant | NM_018052.5(VAC14):c.1350G>A (p.Thr450=) | not provided [RCV005067232] | likely benign | 16 | 70762561 | 70762561 | Human | | name |
| 597951341 | CV3756438 | single nucleotide variant | NM_018052.5(VAC14):c.1713C>T (p.Asp571=) | not provided [RCV005079495] | likely benign | 16 | 70698760 | 70698760 | Human | | name |
| 597947468 | CV3758970 | single nucleotide variant | NM_018052.5(VAC14):c.2289G>A (p.Leu763=) | not provided [RCV005078766] | likely benign | 16 | 70687988 | 70687988 | Human | | name |
| 597936802 | CV3759848 | single nucleotide variant | NM_018052.5(VAC14):c.1686G>A (p.Ala562=) | not provided [RCV005076770] | likely benign | 16 | 70698787 | 70698787 | Human | | name |
| 597835631 | CV3760994 | single nucleotide variant | NM_018052.5(VAC14):c.1353A>G (p.Leu451=) | not provided [RCV005085545] | likely benign | 16 | 70762558 | 70762558 | Human | | name |
| 597894157 | CV3773264 | single nucleotide variant | NM_018052.5(VAC14):c.2166C>T (p.Asn722=) | not provided [RCV005111171] | likely benign | 16 | 70692841 | 70692841 | Human | | name |
| 597973601 | CV3820603 | single nucleotide variant | NM_018052.5(VAC14):c.1128C>T (p.Phe376=) | not provided [RCV005168120] | likely benign | 16 | 70772141 | 70772141 | Human | | name |
| 597970802 | CV3832602 | single nucleotide variant | NM_018052.5(VAC14):c.1785C>T (p.Thr595=) | not provided [RCV005166681] | likely benign | 16 | 70698688 | 70698688 | Human | | name |
| 597882360 | CV3834057 | single nucleotide variant | NM_018052.5(VAC14):c.1089A>G (p.Thr363=) | not provided [RCV005178376] | likely benign | 16 | 70780797 | 70780797 | Human | | name |
| 597933776 | CV3844720 | single nucleotide variant | NM_018052.5(VAC14):c.1983C>T (p.Phe661=) | not provided [RCV005186226] | likely benign | 16 | 70695596 | 70695596 | Human | | name |
| 597942948 | CV3847372 | single nucleotide variant | NM_018052.5(VAC14):c.2142G>A (p.Ser714=) | not provided [RCV005188291] | likely benign | 16 | 70692865 | 70692865 | Human | | name |
| 597871779 | CV3849379 | single nucleotide variant | NM_018052.5(VAC14):c.1509C>T (p.Ala503=) | not provided [RCV005197560] | likely benign | 16 | 70744442 | 70744442 | Human | | name |
| 597864627 | CV3861087 | deletion | NM_018052.5(VAC14):c.536del (p.Leu179fs) | not provided [RCV005196435] | pathogenic | 16 | 70784171 | 70784171 | Human | | name |
| 15190504 | CV703787 | single nucleotide variant | NM_018052.5(VAC14):c.2034A>G (p.Thr678=) | not provided [RCV000954494] | benign | 16 | 70695545 | 70695545 | Human | | name |
| 15189387 | CV703788 | single nucleotide variant | NM_018052.5(VAC14):c.1896G>A (p.Thr632=) | not provided [RCV000954160] | benign|likely benign | 16 | 70697198 | 70697198 | Human | | name |
| 15152329 | CV715042 | single nucleotide variant | NM_018052.5(VAC14):c.2172G>A (p.Glu724=) | not provided [RCV000968329] | benign | 16 | 70692835 | 70692835 | Human | | name |
| 15141970 | CV715043 | single nucleotide variant | NM_018052.5(VAC14):c.1320G>A (p.Thr440=) | VAC14-related disorder [RCV003936017]|not provided [RCV000966398] | benign | 16 | 70762591 | 70762591 | Human | 1 | name , trait , alternate_id |
| 15141655 | CV740332 | single nucleotide variant | NM_018052.5(VAC14):c.2244C>T (p.Tyr748=) | VAC14-related disorder [RCV003958120]|not provided [RCV000899535] | likely benign | 16 | 70688033 | 70688033 | Human | 1 | name , trait , alternate_id |
| 15188331 | CV740333 | single nucleotide variant | NM_018052.5(VAC14):c.2115G>A (p.Pro705=) | not provided [RCV000909339] | likely benign | 16 | 70692892 | 70692892 | Human | | name |
| 15168229 | CV740334 | single nucleotide variant | NM_018052.5(VAC14):c.1974C>G (p.Thr658=) | not provided [RCV000904810] | likely benign | 16 | 70695605 | 70695605 | Human | | name |
| 15110815 | CV755363 | single nucleotide variant | NM_018052.5(VAC14):c.1797C>T (p.Leu599=) | VAC14-related disorder [RCV003958389]|not provided [RCV000916610] | likely benign | 16 | 70698676 | 70698676 | Human | 1 | name , trait , alternate_id |
| 15200706 | CV755365 | single nucleotide variant | NM_018052.5(VAC14):c.265C>T (p.Leu89Phe) | not provided [RCV000912922] | benign | 16 | 70785860 | 70785860 | Human | | name |
| 15202041 | CV771048 | single nucleotide variant | NM_018052.5(VAC14):c.1320G>C (p.Thr440=) | not provided [RCV000935835] | likely benign | 16 | 70762591 | 70762591 | Human | | name |
| 15131392 | CV785368 | single nucleotide variant | NM_018052.5(VAC14):c.2310C>T (p.Ser770=) | not provided [RCV000981206] | likely benign | 16 | 70687967 | 70687967 | Human | | name |
| 15120507 | CV785369 | single nucleotide variant | NM_018052.5(VAC14):c.2124C>T (p.Ser708=) | not provided [RCV000979302] | likely benign | 16 | 70692883 | 70692883 | Human | | name |
| 15119975 | CV785370 | single nucleotide variant | NM_018052.5(VAC14):c.1902C>T (p.Ser634=) | not provided [RCV000979209] | likely benign | 16 | 70697192 | 70697192 | Human | | name |
| 15107022 | CV785371 | single nucleotide variant | NM_018052.5(VAC14):c.1419C>G (p.Pro473=) | not provided [RCV000976740] | likely benign | 16 | 70744532 | 70744532 | Human | | name |
| 151780323 | CV1341742 | single nucleotide variant | NM_018052.5(VAC14):c.367G>T (p.Val123Leu) | Inborn genetic diseases [RCV002552331]|not provided [RCV001897176] | uncertain significance | 16 | 70785758 | 70785758 | Human | 1 | name |
| 151761258 | CV1343345 | single nucleotide variant | NM_018052.5(VAC14):c.455G>A (p.Ser152Asn) | not provided [RCV002024393] | uncertain significance | 16 | 70784807 | 70784807 | Human | | name |
| 151782767 | CV1347433 | single nucleotide variant | NM_018052.5(VAC14):c.382G>A (p.Val128Met) | not provided [RCV002046324] | uncertain significance | 16 | 70785743 | 70785743 | Human | | name |
| 151745007 | CV1400953 | single nucleotide variant | NM_018052.5(VAC14):c.318C>G (p.Asp106Glu) | Inborn genetic diseases [RCV004970758]|not provided [RCV002022717] | uncertain significance | 16 | 70785807 | 70785807 | Human | 1 | name |
| 151875865 | CV1406020 | single nucleotide variant | NM_018052.5(VAC14):c.361G>A (p.Val121Ile) | Inborn genetic diseases [RCV004042033]|not provided [RCV001981894] | uncertain significance | 16 | 70785764 | 70785764 | Human | 1 | name |
| 151748304 | CV1428850 | single nucleotide variant | NM_018052.5(VAC14):c.625A>C (p.Asn209His) | not provided [RCV001985999] | uncertain significance | 16 | 70783524 | 70783524 | Human | | name |
| 151874789 | CV1466644 | single nucleotide variant | NM_018052.5(VAC14):c.856A>G (p.Ile286Val) | not provided [RCV001885723] | uncertain significance | 16 | 70781959 | 70781959 | Human | | name |
| 151849544 | CV1480510 | single nucleotide variant | NM_018052.5(VAC14):c.758G>A (p.Ser253Asn) | Inborn genetic diseases [RCV004681310]|not provided [RCV001903903] | uncertain significance | 16 | 70783086 | 70783086 | Human | 1 | name |
| 151819182 | CV1490329 | single nucleotide variant | NM_018052.5(VAC14):c.308A>G (p.Asn103Ser) | Inborn genetic diseases [RCV004970622]|not provided [RCV001992603] | benign|likely benign|uncertain significance | 16 | 70785817 | 70785817 | Human | 1 | name |
| 151855153 | CV1506557 | single nucleotide variant | NM_018052.5(VAC14):c.750C>A (p.Asn250Lys) | not provided [RCV001937854] | uncertain significance | 16 | 70783094 | 70783094 | Human | | name |
| 151890420 | CV1511060 | single nucleotide variant | NM_018052.5(VAC14):c.965A>C (p.Asn322Thr) | Inborn genetic diseases [RCV004970658]|not provided [RCV001963649] | uncertain significance | 16 | 70780921 | 70780921 | Human | 1 | name |
| 151888546 | CV1512827 | deletion | NM_018052.5(VAC14):c.2106del (p.Met702fs) | not provided [RCV001887986] | uncertain significance | 16 | 70692901 | 70692901 | Human | | name |
| 152055772 | CV1588051 | single nucleotide variant | NM_018052.5(VAC14):c.755C>A (p.Ser252Tyr) | not provided [RCV002189942] | benign | 16 | 70783089 | 70783089 | Human | | name |
| 155795176 | CV1858971 | single nucleotide variant | NM_018052.5(VAC14):c.934G>C (p.Asp312His) | Myoepithelial tumor [RCV002463936] | uncertain significance | 16 | 70781881 | 70781881 | Human | 1 | name |
| 156143083 | CV1898686 | single nucleotide variant | NM_018052.5(VAC14):c.709G>C (p.Glu237Gln) | not provided [RCV003082277] | uncertain significance | 16 | 70783135 | 70783135 | Human | | name |
| 156365734 | CV1908431 | single nucleotide variant | NM_018052.5(VAC14):c.874G>A (p.Val292Ile) | Inborn genetic diseases [RCV002582049]|not provided [RCV002582050] | uncertain significance | 16 | 70781941 | 70781941 | Human | 1 | name |
| 156202781 | CV1925790 | single nucleotide variant | NM_018052.5(VAC14):c.938G>A (p.Arg313His) | not provided [RCV002643695] | uncertain significance | 16 | 70781877 | 70781877 | Human | | name |
| 156060154 | CV1930957 | single nucleotide variant | NM_018052.5(VAC14):c.967G>A (p.Val323Met) | not provided [RCV002638256] | uncertain significance | 16 | 70780919 | 70780919 | Human | | name |
| 156415813 | CV1966268 | single nucleotide variant | NM_018052.5(VAC14):c.709G>A (p.Glu237Lys) | not provided [RCV002589378] | uncertain significance | 16 | 70783135 | 70783135 | Human | | name |
| 156322801 | CV1978991 | single nucleotide variant | NM_018052.5(VAC14):c.379G>A (p.Ala127Thr) | not provided [RCV002630461] | uncertain significance | 16 | 70785746 | 70785746 | Human | | name |
| 156104599 | CV1992160 | single nucleotide variant | NM_018052.5(VAC14):c.505A>T (p.Asn169Tyr) | not provided [RCV002622339] | uncertain significance | 16 | 70784202 | 70784202 | Human | | name |
| 156184151 | CV1997669 | single nucleotide variant | NM_018052.5(VAC14):c.847C>T (p.Arg283Trp) | not provided [RCV002643119] | uncertain significance | 16 | 70781968 | 70781968 | Human | | name |
| 156377654 | CV2000489 | single nucleotide variant | NM_018052.5(VAC14):c.986T>C (p.Met329Thr) | not provided [RCV002653419] | uncertain significance | 16 | 70780900 | 70780900 | Human | | name |
| 155973520 | CV2021838 | single nucleotide variant | NM_018052.5(VAC14):c.520G>C (p.Val174Leu) | not provided [RCV002755002] | uncertain significance | 16 | 70784187 | 70784187 | Human | | name |
| 156371547 | CV2031157 | deletion | NM_018052.5(VAC14):c.2073del (p.Tyr692fs) | not provided [RCV002721555] | pathogenic|uncertain significance | 16 | 70692934 | 70692934 | Human | | name |
| 155953476 | CV2043865 | single nucleotide variant | NM_018052.5(VAC14):c.962C>T (p.Ala321Val) | not provided [RCV002775898] | uncertain significance | 16 | 70780924 | 70780924 | Human | | name |
| 155909270 | CV2044807 | single nucleotide variant | NM_018052.5(VAC14):c.542G>A (p.Arg181Gln) | not provided [RCV002771461] | uncertain significance | 16 | 70784165 | 70784165 | Human | | name |
| 156030405 | CV2135439 | single nucleotide variant | NM_018052.5(VAC14):c.329G>A (p.Arg110His) | not provided [RCV002999117] | uncertain significance | 16 | 70785796 | 70785796 | Human | | name |
| 156050193 | CV2304561 | single nucleotide variant | NM_018052.5(VAC14):c.764A>G (p.Lys255Arg) | Inborn genetic diseases [RCV002911156] | uncertain significance | 16 | 70783080 | 70783080 | Human | 1 | name |
| 401770333 | CV2711087 | single nucleotide variant | NM_018052.5(VAC14):c.813T>G (p.Asp271Glu) | Inborn genetic diseases [RCV003261043] | uncertain significance | 16 | 70782002 | 70782002 | Human | 1 | name |
| 401948287 | CV2832466 | single nucleotide variant | NM_018052.5(VAC14):c.921C>A (p.Cys307Ter) | Striatonigral degeneration, childhood-onset [RCV003447872] | likely pathogenic | 16 | 70781894 | 70781894 | Human | 1 | name |
| 402516882 | CV2856744 | single nucleotide variant | NM_018052.5(VAC14):c.317A>G (p.Asp106Gly) | not provided [RCV003575509] | uncertain significance | 16 | 70785808 | 70785808 | Human | | name |
| 402489176 | CV2984429 | single nucleotide variant | NM_018052.5(VAC14):c.601G>C (p.Val201Leu) | not provided [RCV003713606] | uncertain significance | 16 | 70783548 | 70783548 | Human | | name |
| 405806091 | CV3348696 | single nucleotide variant | NM_018052.5(VAC14):c.672C>G (p.Ile224Met) | Inborn genetic diseases [RCV004480028] | uncertain significance | 16 | 70783477 | 70783477 | Human | 1 | name |
| 405806094 | CV3348697 | single nucleotide variant | NM_018052.5(VAC14):c.808A>G (p.Thr270Ala) | Inborn genetic diseases [RCV004480029] | uncertain significance | 16 | 70783036 | 70783036 | Human | 1 | name |
| 407464769 | CV3493287 | single nucleotide variant | NM_018052.5(VAC14):c.622A>G (p.Ile208Val) | Inborn genetic diseases [RCV004688592] | uncertain significance | 16 | 70783527 | 70783527 | Human | 1 | name |
| 408394349 | CV3521940 | single nucleotide variant | NM_018052.5(VAC14):c.412G>A (p.Gly138Arg) | Striatonigral degeneration, childhood-onset [RCV004764739] | uncertain significance | 16 | 70785713 | 70785713 | Human | 1 | name |
| 597656425 | CV3552331 | single nucleotide variant | NM_018052.5(VAC14):c.541C>G (p.Arg181Gly) | Striatonigral degeneration, childhood-onset [RCV004821189] | uncertain significance | 16 | 70784166 | 70784166 | Human | 1 | name |
| 597642694 | CV3633082 | single nucleotide variant | NM_018052.5(VAC14):c.567G>T (p.Gln189His) | Inborn genetic diseases [RCV004972041] | uncertain significance | 16 | 70784140 | 70784140 | Human | 1 | name |
| 597642706 | CV3633085 | single nucleotide variant | NM_018052.5(VAC14):c.872G>A (p.Arg291His) | Inborn genetic diseases [RCV004972044] | uncertain significance | 16 | 70781943 | 70781943 | Human | 1 | name |
| 597642719 | CV3633088 | single nucleotide variant | NM_018052.5(VAC14):c.403C>T (p.Leu135Phe) | Inborn genetic diseases [RCV004972047] | uncertain significance | 16 | 70785722 | 70785722 | Human | 1 | name |
| 597966559 | CV3794258 | duplication | NM_018052.5(VAC14):c.1011dup (p.Glu338fs) | not provided [RCV005140434] | pathogenic | 16 | 70780874 | 70780875 | Human | | name |
| 12854359 | CV384431 | single nucleotide variant | NM_018052.5(VAC14):c.923T>A (p.Leu308Ter) | Striatonigral degeneration, childhood-onset [RCV004800412]|Yunis-Varon syndrome [RCV000449608]|not provided [RCV002522739] | pathogenic|uncertain significance | 16 | 70781892 | 70781892 | Human | 2 | name |
| 598130054 | CV3888815 | single nucleotide variant | NM_018052.5(VAC14):c.607G>C (p.Glu203Gln) | Striatonigral degeneration, childhood-onset [RCV005245578] | uncertain significance | 16 | 70783542 | 70783542 | Human | 1 | name |
| 598130055 | CV3888816 | single nucleotide variant | NM_018052.5(VAC14):c.507C>A (p.Asn169Lys) | Striatonigral degeneration, childhood-onset [RCV005245579] | uncertain significance | 16 | 70784200 | 70784200 | Human | 1 | name |
| 598205269 | CV3929334 | single nucleotide variant | NM_018052.5(VAC14):c.879G>C (p.Met293Ile) | Inborn genetic diseases [RCV005290822] | uncertain significance | 16 | 70781936 | 70781936 | Human | 1 | name |
| 15111280 | CV715045 | single nucleotide variant | NM_018052.5(VAC14):c.358A>G (p.Ile120Val) | not provided [RCV000961075] | benign|likely benign | 16 | 70785767 | 70785767 | Human | | name |
| 126746547 | CV1015432 | single nucleotide variant | NM_018052.5(VAC14):c.2033C>A (p.Thr678Lys) | Neurodegeneration [RCV001328495] | uncertain significance | 16 | 70695546 | 70695546 | Human | 2 | name |
| 126726904 | CV1018139 | single nucleotide variant | NM_018052.5(VAC14):c.2015T>C (p.Ile672Thr) | Striatonigral degeneration, childhood-onset [RCV001332221] | uncertain significance | 16 | 70695564 | 70695564 | Human | 1 | name |
| 126732353 | CV1021515 | single nucleotide variant | NM_018052.5(VAC14):c.1723C>T (p.Arg575Trp) | Inborn genetic diseases [RCV002546666]|Striatonigral degeneration, childhood-onset [RCV001333989]|not provided [RCV001865799] | likely benign|uncertain significance | 16 | 70698750 | 70698750 | Human | 2 | name |
| 151351427 | CV1323445 | single nucleotide variant | NM_018052.5(VAC14):c.1927C>T (p.Arg643Trp) | Striatonigral degeneration, childhood-onset [RCV001806301] | uncertain significance | 16 | 70697167 | 70697167 | Human | 1 | name |
| 151662087 | CV1330224 | single nucleotide variant | NM_018052.5(VAC14):c.1867C>T (p.Arg623Cys) | Striatonigral degeneration, childhood-onset [RCV001823636]|not provided [RCV002542740] | uncertain significance | 16 | 70697227 | 70697227 | Human | 1 | name |
| 151881763 | CV1339874 | single nucleotide variant | NM_018052.5(VAC14):c.1420G>A (p.Ala474Thr) | Inborn genetic diseases [RCV003161168]|not provided [RCV001999696] | uncertain significance | 16 | 70744531 | 70744531 | Human | 1 | name |
| 151831415 | CV1343634 | single nucleotide variant | NM_018052.5(VAC14):c.2297G>A (p.Arg766Gln) | Inborn genetic diseases [RCV002556298]|not provided [RCV001920528] | uncertain significance | 16 | 70687980 | 70687980 | Human | 1 | name |
| 151873139 | CV1359478 | single nucleotide variant | NM_018052.5(VAC14):c.2026A>G (p.Ile676Val) | not provided [RCV002019204] | uncertain significance | 16 | 70695553 | 70695553 | Human | | name |
| 151826954 | CV1359828 | single nucleotide variant | NM_018052.5(VAC14):c.1308G>A (p.Met436Ile) | Inborn genetic diseases [RCV003355791]|not provided [RCV002050339] | uncertain significance | 16 | 70762603 | 70762603 | Human | 1 | name |
| 151753982 | CV1360163 | single nucleotide variant | NM_018052.5(VAC14):c.2234G>T (p.Ser745Ile) | not provided [RCV001872537] | uncertain significance | 16 | 70688043 | 70688043 | Human | | name |
| 151804515 | CV1362912 | single nucleotide variant | NM_018052.5(VAC14):c.1312C>T (p.Arg438Trp) | Inborn genetic diseases [RCV002625387]|not provided [RCV002028400] | uncertain significance | 16 | 70762599 | 70762599 | Human | 1 | name |
| 151877183 | CV1368795 | single nucleotide variant | NM_018052.5(VAC14):c.2329G>A (p.Asp777Asn) | not provided [RCV001999079] | uncertain significance | 16 | 70687948 | 70687948 | Human | | name |
| 151792301 | CV1375883 | single nucleotide variant | NM_018052.5(VAC14):c.1549T>C (p.Ser517Pro) | not provided [RCV001973164] | uncertain significance | 16 | 70731607 | 70731607 | Human | | name |
| 151874886 | CV1388239 | single nucleotide variant | NM_018052.5(VAC14):c.2338G>A (p.Val780Ile) | not provided [RCV001981774] | uncertain significance | 16 | 70687939 | 70687939 | Human | | name |
| 151857538 | CV1403383 | single nucleotide variant | NM_018052.5(VAC14):c.1261G>T (p.Val421Phe) | not provided [RCV001923584] | uncertain significance | 16 | 70762925 | 70762925 | Human | | name |
| 151871104 | CV1413578 | single nucleotide variant | NM_018052.5(VAC14):c.2310C>A (p.Ser770Arg) | Inborn genetic diseases [RCV005301052]|not provided [RCV001998348] | uncertain significance | 16 | 70687967 | 70687967 | Human | 1 | name |
| 151756736 | CV1414322 | single nucleotide variant | NM_018052.5(VAC14):c.2266G>T (p.Glu756Ter) | not provided [RCV001894869] | uncertain significance | 16 | 70688011 | 70688011 | Human | | name |
| 151869326 | CV1415881 | single nucleotide variant | NM_018052.5(VAC14):c.1705A>G (p.Met569Val) | not provided [RCV001884936] | uncertain significance | 16 | 70698768 | 70698768 | Human | | name |
| 151718203 | CV1419616 | single nucleotide variant | NM_018052.5(VAC14):c.1561C>T (p.Pro521Ser) | not provided [RCV001965551] | uncertain significance | 16 | 70731595 | 70731595 | Human | | name |
| 151783034 | CV1434540 | single nucleotide variant | NM_018052.5(VAC14):c.1142G>A (p.Ser381Asn) | Inborn genetic diseases [RCV005288589]|not provided [RCV001897419] | uncertain significance | 16 | 70772127 | 70772127 | Human | 1 | name |
| 151774568 | CV1450209 | single nucleotide variant | NM_018052.5(VAC14):c.1324A>G (p.Ser442Gly) | not provided [RCV001915306] | uncertain significance | 16 | 70762587 | 70762587 | Human | | name |
| 151872544 | CV1487894 | single nucleotide variant | NM_018052.5(VAC14):c.1987G>A (p.Ala663Thr) | not provided [RCV001981490] | uncertain significance | 16 | 70695592 | 70695592 | Human | | name |
| 151731564 | CV1489854 | single nucleotide variant | NM_018052.5(VAC14):c.2141C>T (p.Ser714Leu) | Inborn genetic diseases [RCV003289180]|not provided [RCV001910923] | uncertain significance | 16 | 70692866 | 70692866 | Human | 1 | name |
| 151798037 | CV1503887 | single nucleotide variant | NM_018052.5(VAC14):c.1510G>A (p.Gly504Ser) | not provided [RCV001973651] | uncertain significance | 16 | 70744441 | 70744441 | Human | | name |
| 151771044 | CV1506017 | single nucleotide variant | NM_018052.5(VAC14):c.1300C>T (p.Arg434Trp) | Inborn genetic diseases [RCV004970383]|not provided [RCV001914979] | uncertain significance | 16 | 70762886 | 70762886 | Human | 1 | name |
| 156397171 | CV1871023 | single nucleotide variant | NM_018052.5(VAC14):c.2306G>A (p.Arg769Gln) | not provided [RCV003068752] | uncertain significance | 16 | 70687971 | 70687971 | Human | | name |
| 156329574 | CV1881198 | single nucleotide variant | NM_018052.5(VAC14):c.1313G>A (p.Arg438Gln) | Inborn genetic diseases [RCV004071615]|not provided [RCV003063612] | uncertain significance | 16 | 70762598 | 70762598 | Human | 1 | name |
| 156376841 | CV1896169 | single nucleotide variant | NM_018052.5(VAC14):c.2185G>A (p.Glu729Lys) | not provided [RCV003092945] | uncertain significance | 16 | 70692822 | 70692822 | Human | | name |
| 156005074 | CV1906370 | single nucleotide variant | NM_018052.5(VAC14):c.1201G>A (p.Val401Met) | Inborn genetic diseases [RCV003098988]|not provided [RCV003098987] | uncertain significance | 16 | 70762985 | 70762985 | Human | 1 | name |
| 156201087 | CV1916773 | single nucleotide variant | NM_018052.5(VAC14):c.1135G>A (p.Gly379Ser) | Inborn genetic diseases [RCV002595704]|not provided [RCV002595705] | likely benign|uncertain significance | 16 | 70772134 | 70772134 | Human | 1 | name |
| 155937219 | CV1917126 | single nucleotide variant | NM_018052.5(VAC14):c.1498C>T (p.Pro500Ser) | Inborn genetic diseases [RCV002592399]|not provided [RCV002615391] | uncertain significance | 16 | 70744453 | 70744453 | Human | 1 | name |
| 156442269 | CV1938495 | single nucleotide variant | NM_018052.5(VAC14):c.1346A>T (p.Gln449Leu) | Inborn genetic diseases [RCV004963549]|not provided [RCV003112609] | uncertain significance | 16 | 70762565 | 70762565 | Human | 1 | name |
| 156434378 | CV1940022 | single nucleotide variant | NM_018052.5(VAC14):c.1009G>A (p.Asp337Asn) | not provided [RCV003104437] | uncertain significance | 16 | 70780877 | 70780877 | Human | | name |
| 156438581 | CV1947190 | single nucleotide variant | NM_018052.5(VAC14):c.1144G>C (p.Val382Leu) | Inborn genetic diseases [RCV004244533]|not provided [RCV003108525] | uncertain significance | 16 | 70772125 | 70772125 | Human | 1 | name |
| 156345120 | CV1958140 | single nucleotide variant | NM_018052.5(VAC14):c.2311G>A (p.Gly771Arg) | not provided [RCV002580723] | uncertain significance | 16 | 70687966 | 70687966 | Human | | name |
| 156356564 | CV1962452 | single nucleotide variant | NM_018052.5(VAC14):c.1084G>A (p.Gly362Ser) | not provided [RCV002581431] | uncertain significance | 16 | 70780802 | 70780802 | Human | | name |
| 156327436 | CV1982286 | single nucleotide variant | NM_018052.5(VAC14):c.2333G>A (p.Arg778Gln) | not provided [RCV002649636] | uncertain significance | 16 | 70687944 | 70687944 | Human | | name |
| 156115894 | CV1982499 | single nucleotide variant | NM_018052.5(VAC14):c.2146C>T (p.Arg716Trp) | not provided [RCV002622757] | uncertain significance | 16 | 70692861 | 70692861 | Human | | name |
| 156010260 | CV1991776 | single nucleotide variant | NM_018052.5(VAC14):c.1106A>T (p.Asp369Val) | not provided [RCV002618868] | uncertain significance | 16 | 70772163 | 70772163 | Human | | name |
| 156370333 | CV2007680 | single nucleotide variant | NM_018052.5(VAC14):c.1188C>A (p.His396Gln) | not provided [RCV002676849] | uncertain significance | 16 | 70762998 | 70762998 | Human | | name |
| 155911047 | CV2014668 | single nucleotide variant | NM_018052.5(VAC14):c.1621G>A (p.Glu541Lys) | not provided [RCV002681719] | uncertain significance | 16 | 70731535 | 70731535 | Human | | name |
| 156122872 | CV2036023 | single nucleotide variant | NM_018052.5(VAC14):c.1430C>T (p.Thr477Met) | not provided [RCV002800298] | uncertain significance | 16 | 70744521 | 70744521 | Human | | name |
| 156260677 | CV2059386 | single nucleotide variant | NM_018052.5(VAC14):c.1657A>G (p.Ile553Val) | not provided [RCV002806316] | uncertain significance | 16 | 70731499 | 70731499 | Human | | name |
| 156193588 | CV2066488 | single nucleotide variant | NM_018052.5(VAC14):c.2158G>T (p.Val720Leu) | not provided [RCV002828692] | uncertain significance | 16 | 70692849 | 70692849 | Human | | name |
| 156194542 | CV2113579 | single nucleotide variant | NM_018052.5(VAC14):c.2190C>A (p.Asp730Glu) | not provided [RCV002957165] | uncertain significance | 16 | 70688087 | 70688087 | Human | | name |
| 156122195 | CV2128578 | single nucleotide variant | NM_018052.5(VAC14):c.1012G>A (p.Glu338Lys) | Inborn genetic diseases [RCV004068027]|not provided [RCV002953540] | uncertain significance | 16 | 70780874 | 70780874 | Human | 1 | name |
| 156300049 | CV2146064 | single nucleotide variant | NM_018052.5(VAC14):c.1218C>G (p.Cys406Trp) | not provided [RCV003010342] | uncertain significance | 16 | 70762968 | 70762968 | Human | | name |
| 156272872 | CV2168198 | single nucleotide variant | NM_018052.5(VAC14):c.1208T>C (p.Val403Ala) | not provided [RCV003027054] | uncertain significance | 16 | 70762978 | 70762978 | Human | | name |
| 156126483 | CV2176132 | single nucleotide variant | NM_018052.5(VAC14):c.1298C>G (p.Pro433Arg) | not provided [RCV003039523] | uncertain significance | 16 | 70762888 | 70762888 | Human | | name |
| 156141432 | CV2177914 | single nucleotide variant | NM_018052.5(VAC14):c.2209A>G (p.Lys737Glu) | Inborn genetic diseases [RCV004068733]|not provided [RCV003040050] | uncertain significance | 16 | 70688068 | 70688068 | Human | 1 | name |
| 156085920 | CV2184475 | single nucleotide variant | NM_018052.5(VAC14):c.2114C>T (p.Pro705Leu) | not provided [RCV003054188] | uncertain significance | 16 | 70692893 | 70692893 | Human | | name |
| 156374967 | CV2190928 | indel | NM_018052.5(VAC14):c.1306-7_1306-6delinsTT | not provided [RCV003050024] | uncertain significance | 16 | 70762611 | 70762612 | Human | | name |
| 156158825 | CV2191642 | single nucleotide variant | NM_018052.5(VAC14):c.2228C>T (p.Ser743Phe) | not provided [RCV003040630] | uncertain significance | 16 | 70688049 | 70688049 | Human | | name |
| 156352959 | CV2324077 | single nucleotide variant | NM_018052.5(VAC14):c.1058C>T (p.Pro353Leu) | Inborn genetic diseases [RCV002940162] | uncertain significance | 16 | 70780828 | 70780828 | Human | 1 | name |
| 156080107 | CV2337434 | single nucleotide variant | NM_018052.5(VAC14):c.1735C>G (p.Leu579Val) | Inborn genetic diseases [RCV002926118] | uncertain significance | 16 | 70698738 | 70698738 | Human | 1 | name |
| 155929420 | CV2369734 | single nucleotide variant | NM_018052.5(VAC14):c.1450G>A (p.Asp484Asn) | Inborn genetic diseases [RCV002993065] | uncertain significance | 16 | 70744501 | 70744501 | Human | 1 | name |
| 243061986 | CV2407175 | single nucleotide variant | NM_018052.5(VAC14):c.1339C>G (p.Leu447Val) | Inborn genetic diseases [RCV003164847]|Striatonigral degeneration, childhood-onset [RCV003139258] | uncertain significance | 16 | 70762572 | 70762572 | Human | 2 | name |
| 243061987 | CV2407176 | single nucleotide variant | NM_018052.5(VAC14):c.1063G>A (p.Asp355Asn) | Striatonigral degeneration, childhood-onset [RCV003139259] | uncertain significance | 16 | 70780823 | 70780823 | Human | 1 | name |
| 329361804 | CV2468330 | single nucleotide variant | NM_018052.5(VAC14):c.1036C>G (p.Gln346Glu) | Inborn genetic diseases [RCV003205704] | uncertain significance | 16 | 70780850 | 70780850 | Human | 1 | name |
| 329392881 | CV2469033 | single nucleotide variant | NM_018052.5(VAC14):c.1981T>C (p.Phe661Leu) | Inborn genetic diseases [RCV003217998] | uncertain significance | 16 | 70695598 | 70695598 | Human | 1 | name |
| 11531363 | CV247552 | single nucleotide variant | NM_018052.5(VAC14):c.1271G>T (p.Trp424Leu) | Striatonigral degeneration, childhood-onset [RCV000239574] | pathogenic | 16 | 70762915 | 70762915 | Human | 1 | name |
| 11531342 | CV247554 | single nucleotide variant | NM_018052.5(VAC14):c.1744G>T (p.Ala582Ser) | Striatonigral degeneration, childhood-onset [RCV000239537] | pathogenic | 16 | 70698729 | 70698729 | Human | 1 | name |
| 11531369 | CV247555 | single nucleotide variant | NM_018052.5(VAC14):c.1748C>T (p.Ser583Leu) | Striatonigral degeneration, childhood-onset [RCV000239591] | pathogenic | 16 | 70698725 | 70698725 | Human | 1 | name |
| 401890036 | CV2758484 | single nucleotide variant | NM_018052.5(VAC14):c.1625G>A (p.Arg542Gln) | Inborn genetic diseases [RCV003368613] | uncertain significance | 16 | 70731531 | 70731531 | Human | 1 | name |
| 405061213 | CV3030002 | single nucleotide variant | NM_018052.5(VAC14):c.2260C>A (p.His754Asn) | not provided [RCV003697675] | uncertain significance | 16 | 70688017 | 70688017 | Human | | name |
| 405125285 | CV3043563 | single nucleotide variant | NM_018052.5(VAC14):c.1435G>A (p.Asp479Asn) | not provided [RCV003724310] | uncertain significance | 16 | 70744516 | 70744516 | Human | | name |
| 405082629 | CV3137526 | single nucleotide variant | NM_018052.5(VAC14):c.1115G>A (p.Cys372Tyr) | not provided [RCV003834235] | uncertain significance | 16 | 70772154 | 70772154 | Human | | name |
| 405158678 | CV3159823 | single nucleotide variant | NM_018052.5(VAC14):c.2081T>C (p.Ile694Thr) | not provided [RCV003856894] | uncertain significance | 16 | 70692926 | 70692926 | Human | | name |
| 405806082 | CV3348692 | single nucleotide variant | NM_018052.5(VAC14):c.1355C>T (p.Ser452Leu) | Inborn genetic diseases [RCV004480024] | uncertain significance | 16 | 70762556 | 70762556 | Human | 1 | name |
| 405806085 | CV3348693 | single nucleotide variant | NM_018052.5(VAC14):c.1567A>G (p.Met523Val) | Inborn genetic diseases [RCV004480025] | uncertain significance | 16 | 70731589 | 70731589 | Human | 1 | name |
| 405806087 | CV3348694 | single nucleotide variant | NM_018052.5(VAC14):c.1721T>C (p.Leu574Pro) | Inborn genetic diseases [RCV004480026] | uncertain significance | 16 | 70698752 | 70698752 | Human | 1 | name |
| 405806089 | CV3348695 | single nucleotide variant | NM_018052.5(VAC14):c.2057A>G (p.Asp686Gly) | Inborn genetic diseases [RCV004480027] | uncertain significance | 16 | 70692950 | 70692950 | Human | 1 | name |
| 407529332 | CV3493282 | single nucleotide variant | NM_018052.5(VAC14):c.1591A>G (p.Met531Val) | Inborn genetic diseases [RCV004680842] | uncertain significance | 16 | 70731565 | 70731565 | Human | 1 | name |
| 407529334 | CV3493283 | single nucleotide variant | NM_018052.5(VAC14):c.1928G>A (p.Arg643Gln) | Inborn genetic diseases [RCV004680843] | uncertain significance | 16 | 70697166 | 70697166 | Human | 1 | name |
| 407464762 | CV3493284 | single nucleotide variant | NM_018052.5(VAC14):c.2266G>A (p.Glu756Lys) | Inborn genetic diseases [RCV004688590] | uncertain significance | 16 | 70688011 | 70688011 | Human | 1 | name |
| 407529335 | CV3493286 | single nucleotide variant | NM_018052.5(VAC14):c.2245G>A (p.Ala749Thr) | Inborn genetic diseases [RCV004680844] | likely benign | 16 | 70688032 | 70688032 | Human | 1 | name |
| 407529338 | CV3493289 | single nucleotide variant | NM_018052.5(VAC14):c.1587G>C (p.Lys529Asn) | Inborn genetic diseases [RCV004680846] | uncertain significance | 16 | 70731569 | 70731569 | Human | 1 | name |
| 597642697 | CV3633083 | single nucleotide variant | NM_018052.5(VAC14):c.1301G>A (p.Arg434Gln) | Inborn genetic diseases [RCV004972042] | uncertain significance | 16 | 70762885 | 70762885 | Human | 1 | name |
| 597642700 | CV3633084 | single nucleotide variant | NM_018052.5(VAC14):c.1903C>T (p.Leu635Phe) | Inborn genetic diseases [RCV004972043] | uncertain significance | 16 | 70697191 | 70697191 | Human | 1 | name |
| 597642715 | CV3633087 | single nucleotide variant | NM_018052.5(VAC14):c.1942C>A (p.Leu648Ile) | Inborn genetic diseases [RCV004972046] | uncertain significance | 16 | 70697152 | 70697152 | Human | 1 | name |
| 597642722 | CV3633090 | single nucleotide variant | NM_018052.5(VAC14):c.2224G>A (p.Asp742Asn) | Inborn genetic diseases [RCV004972048] | uncertain significance | 16 | 70688053 | 70688053 | Human | 1 | name |
| 597901953 | CV3771443 | single nucleotide variant | NM_018052.5(VAC14):c.1877G>A (p.Cys626Tyr) | not provided [RCV005112408] | uncertain significance | 16 | 70697217 | 70697217 | Human | | name |
| 597972671 | CV3823464 | single nucleotide variant | NM_018052.5(VAC14):c.1868G>A (p.Arg623His) | not provided [RCV005167560] | uncertain significance | 16 | 70697226 | 70697226 | Human | | name |
| 12854350 | CV384430 | single nucleotide variant | NM_018052.5(VAC14):c.1895C>T (p.Thr632Met) | Yunis-Varon syndrome [RCV000449551]|not provided [RCV003441855] | likely pathogenic|uncertain significance | 16 | 70697199 | 70697199 | Human | 1 | name |
| 598239824 | CV3929330 | single nucleotide variant | NM_018052.5(VAC14):c.1100G>A (p.Gly367Asp) | Inborn genetic diseases [RCV005296660] | uncertain significance | 16 | 70772169 | 70772169 | Human | 1 | name |
| 598205265 | CV3929331 | single nucleotide variant | NM_018052.5(VAC14):c.1794G>C (p.Glu598Asp) | Inborn genetic diseases [RCV005290821] | uncertain significance | 16 | 70698679 | 70698679 | Human | 1 | name |
| 598239829 | CV3929332 | single nucleotide variant | NM_018052.5(VAC14):c.1348A>G (p.Thr450Ala) | Inborn genetic diseases [RCV005296661] | uncertain significance | 16 | 70762563 | 70762563 | Human | 1 | name |
| 598239831 | CV3929333 | single nucleotide variant | NM_018052.5(VAC14):c.1362A>C (p.Glu454Asp) | Inborn genetic diseases [RCV005296662] | uncertain significance | 16 | 70762549 | 70762549 | Human | 1 | name |
| 598205275 | CV3929335 | single nucleotide variant | NM_018052.5(VAC14):c.1147T>C (p.Phe383Leu) | Inborn genetic diseases [RCV005290823] | uncertain significance | 16 | 70772122 | 70772122 | Human | 1 | name |
| 598239838 | CV3929337 | single nucleotide variant | NM_018052.5(VAC14):c.1232C>T (p.Thr411Met) | Inborn genetic diseases [RCV005296664] | likely benign | 16 | 70762954 | 70762954 | Human | 1 | name |
| 598239842 | CV3929338 | single nucleotide variant | NM_018052.5(VAC14):c.2315G>T (p.Arg772Leu) | Inborn genetic diseases [RCV005296665] | uncertain significance | 16 | 70687962 | 70687962 | Human | 1 | name |
| 21068720 | CV626013 | single nucleotide variant | NM_018052.5(VAC14):c.2005G>T (p.Val669Leu) | Inborn genetic diseases [RCV001267003]|Striatonigral degeneration, childhood-onset [RCV000984879]|not provided [RCV001662820] | likely pathogenic|uncertain significance | 16 | 70695574 | 70695574 | Human | 2 | name |
| 15147832 | CV715041 | single nucleotide variant | NM_018052.5(VAC14):c.2309G>A (p.Ser770Asn) | not provided [RCV000967420] | benign | 16 | 70687968 | 70687968 | Human | | name |
| 21075418 | CV797369 | single nucleotide variant | NM_018052.5(VAC14):c.2042G>A (p.Arg681His) | not provided [RCV000996300] | uncertain significance | 16 | 70692965 | 70692965 | Human | | name |
| 21075419 | CV797370 | single nucleotide variant | NM_018052.5(VAC14):c.1744G>A (p.Ala582Thr) | not provided [RCV000996301] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 70698729 | 70698729 | Human | | name |
| 21075420 | CV797371 | single nucleotide variant | NM_018052.5(VAC14):c.1357G>T (p.Asp453Tyr) | not provided [RCV000996302] | uncertain significance | 16 | 70762554 | 70762554 | Human | | name |
| 8627860 | CV83004 | single nucleotide variant | NM_018052.3(VAC14):c.1402G>A (p.Glu468Lys) | Malignant melanoma [RCV000063084] | not provided | 16 | 70744549 | 70744549 | Human | | name |
| 151844453 | CV1408901 | duplication | NM_018052.5(VAC14):c.2192_2197dup (p.Ser731_Leu732dup) | not provided [RCV002015729] | uncertain significance | 16 | 70688079 | 70688080 | Human | | name |