| 401908275 | CV2815124 | single nucleotide variant | NM_017797.4(BTBD2):c.408-8C>T | not provided [RCV003423177] | likely benign | 19 | 1997471 | 1997471 | Human | | name |
| 596947231 | CV3548781 | single nucleotide variant | NM_017797.4(BTBD2):c.93C>T (p.Asn31=) | not provided [RCV004811105] | likely benign | 19 | 2015611 | 2015611 | Human | | name |
| 597784678 | CV3647060 | single nucleotide variant | NM_017797.4(BTBD2):c.7G>A (p.Ala3Thr) | not specified [RCV004900544] | uncertain significance | 19 | 2015697 | 2015697 | Human | | name |
| 401908203 | CV2815125 | single nucleotide variant | NM_017797.4(BTBD2):c.195C>T (p.Pro65=) | not provided [RCV003423178] | likely benign | 19 | 2015509 | 2015509 | Human | | name |
| 405259722 | CV3195143 | single nucleotide variant | NM_017797.4(BTBD2):c.25C>T (p.Arg9Cys) | BTBD2-related disorder [RCV003894340] | likely benign | 19 | 2015679 | 2015679 | Human | | name , trait , alternate_id |
| 598175582 | CV3949759 | single nucleotide variant | NM_017797.4(BTBD2):c.23G>C (p.Gly8Ala) | not specified [RCV005309874] | uncertain significance | 19 | 2015681 | 2015681 | Human | | name |
| 156291170 | CV2236385 | single nucleotide variant | NM_017797.4(BTBD2):c.64A>T (p.Thr22Ser) | not specified [RCV004108064] | uncertain significance | 19 | 2015640 | 2015640 | Human | | name |
| 401906816 | CV2815121 | single nucleotide variant | NM_017797.4(BTBD2):c.753C>T (p.Asp251=) | not provided [RCV003421719] | likely benign | 19 | 1990754 | 1990754 | Human | | name |
| 401908200 | CV2815122 | single nucleotide variant | NM_017797.4(BTBD2):c.507T>A (p.Ala169=) | not provided [RCV003423176] | likely benign | 19 | 1997364 | 1997364 | Human | | name |
| 401936073 | CV2815123 | single nucleotide variant | NM_017797.4(BTBD2):c.432C>T (p.Ala144=) | not provided [RCV003413516] | likely benign | 19 | 1997439 | 1997439 | Human | | name |
| 155970147 | CV2241310 | single nucleotide variant | NM_017797.4(BTBD2):c.242C>T (p.Ala81Val) | not specified [RCV004102452] | uncertain significance | 19 | 2015462 | 2015462 | Human | | name |
| 156347541 | CV2315333 | single nucleotide variant | NM_017797.4(BTBD2):c.273G>C (p.Glu91Asp) | not specified [RCV004167312] | uncertain significance | 19 | 2015431 | 2015431 | Human | | name |
| 156328314 | CV2332234 | single nucleotide variant | NM_017797.4(BTBD2):c.110C>T (p.Ala37Val) | not specified [RCV004189267] | uncertain significance | 19 | 2015594 | 2015594 | Human | | name |
| 156102413 | CV2400129 | single nucleotide variant | NM_017797.4(BTBD2):c.172A>C (p.Thr58Pro) | not specified [RCV004242933] | uncertain significance | 19 | 2015532 | 2015532 | Human | | name |
| 329400151 | CV2440679 | single nucleotide variant | NM_017797.4(BTBD2):c.268C>T (p.Arg90Cys) | not specified [RCV004256587] | uncertain significance | 19 | 2015436 | 2015436 | Human | | name |
| 329356509 | CV2460374 | single nucleotide variant | NM_017797.4(BTBD2):c.236A>C (p.Glu79Ala) | not specified [RCV004268690] | uncertain significance | 19 | 2015468 | 2015468 | Human | | name |
| 401744039 | CV2684837 | single nucleotide variant | NM_017797.4(BTBD2):c.160G>T (p.Ala54Ser) | not specified [RCV004293909] | uncertain significance | 19 | 2015544 | 2015544 | Human | | name |
| 401738091 | CV2700959 | single nucleotide variant | NM_017797.4(BTBD2):c.253G>A (p.Ala85Thr) | not specified [RCV004307220] | uncertain significance | 19 | 2015451 | 2015451 | Human | | name |
| 401751876 | CV2702934 | single nucleotide variant | NM_017797.4(BTBD2):c.272A>T (p.Glu91Val) | not specified [RCV004321262] | uncertain significance | 19 | 2015432 | 2015432 | Human | | name |
| 405710497 | CV3298566 | single nucleotide variant | NM_017797.4(BTBD2):c.1509C>T (p.Tyr503=) | not specified [RCV004426736] | likely benign | 19 | 1986557 | 1986557 | Human | | name |
| 405710504 | CV3298567 | single nucleotide variant | NM_017797.4(BTBD2):c.251G>C (p.Gly84Ala) | not specified [RCV004426737] | uncertain significance | 19 | 2015453 | 2015453 | Human | | name |
| 407489058 | CV3421664 | single nucleotide variant | NM_017797.4(BTBD2):c.185C>A (p.Pro62Gln) | not specified [RCV004604083] | uncertain significance | 19 | 2015519 | 2015519 | Human | | name |
| 597784656 | CV3647052 | single nucleotide variant | NM_017797.4(BTBD2):c.145G>T (p.Ala49Ser) | not specified [RCV004900538] | uncertain significance | 19 | 2015559 | 2015559 | Human | | name |
| 597784661 | CV3647055 | single nucleotide variant | NM_017797.4(BTBD2):c.286T>C (p.Trp96Arg) | not specified [RCV004900540] | uncertain significance | 19 | 2015418 | 2015418 | Human | | name |
| 597784669 | CV3647058 | single nucleotide variant | NM_017797.4(BTBD2):c.122C>A (p.Ala41Glu) | not specified [RCV004900542] | uncertain significance | 19 | 2015582 | 2015582 | Human | | name |
| 597784674 | CV3647059 | single nucleotide variant | NM_017797.4(BTBD2):c.115G>A (p.Gly39Ser) | not specified [RCV004900543] | uncertain significance | 19 | 2015589 | 2015589 | Human | | name |
| 598175589 | CV3949761 | single nucleotide variant | NM_017797.4(BTBD2):c.179C>G (p.Pro60Arg) | not specified [RCV005309875] | uncertain significance | 19 | 2015525 | 2015525 | Human | | name |
| 8628244 | CV83388 | single nucleotide variant | NM_017797.3(BTBD2):c.1077C>T (p.Phe359=) | Malignant melanoma [RCV000063468] | not provided | 19 | 1987604 | 1987604 | Human | | name |
| 156134744 | CV2213220 | single nucleotide variant | NM_017797.4(BTBD2):c.670A>G (p.Met224Val) | not specified [RCV004085444] | uncertain significance | 19 | 1993034 | 1993034 | Human | | name |
| 156271660 | CV2280775 | single nucleotide variant | NM_017797.4(BTBD2):c.422T>C (p.Val141Ala) | not specified [RCV004145039] | uncertain significance | 19 | 1997449 | 1997449 | Human | | name |
| 156108625 | CV2355417 | single nucleotide variant | NM_017797.4(BTBD2):c.602C>T (p.Ala201Val) | not specified [RCV004205272] | uncertain significance | 19 | 1993102 | 1993102 | Human | | name |
| 155929029 | CV2356612 | single nucleotide variant | NM_017797.4(BTBD2):c.817G>A (p.Asp273Asn) | not specified [RCV004201977] | uncertain significance | 19 | 1990175 | 1990175 | Human | | name |
| 155996826 | CV2398611 | single nucleotide variant | NM_017797.4(BTBD2):c.841C>T (p.Arg281Trp) | not specified [RCV004237920] | uncertain significance | 19 | 1990151 | 1990151 | Human | | name |
| 329394138 | CV2472345 | single nucleotide variant | NM_017797.4(BTBD2):c.863G>A (p.Arg288His) | not specified [RCV004285230] | uncertain significance | 19 | 1990129 | 1990129 | Human | | name |
| 401721272 | CV2673659 | single nucleotide variant | NM_017797.4(BTBD2):c.343G>A (p.Val115Met) | not specified [RCV004282391] | uncertain significance | 19 | 2015361 | 2015361 | Human | | name |
| 401728688 | CV2729741 | single nucleotide variant | NM_017797.4(BTBD2):c.301C>T (p.Pro101Ser) | not specified [RCV004331994] | uncertain significance | 19 | 2015403 | 2015403 | Human | | name |
| 405710509 | CV3298568 | single nucleotide variant | NM_017797.4(BTBD2):c.578C>A (p.Thr193Lys) | not specified [RCV004426738] | uncertain significance | 19 | 1993126 | 1993126 | Human | | name |
| 405710516 | CV3298569 | single nucleotide variant | NM_017797.4(BTBD2):c.737A>G (p.Asp246Gly) | not specified [RCV004426739] | uncertain significance | 19 | 1990770 | 1990770 | Human | | name |
| 405710521 | CV3298570 | single nucleotide variant | NM_017797.4(BTBD2):c.738C>G (p.Asp246Glu) | not specified [RCV004426740] | uncertain significance | 19 | 1990769 | 1990769 | Human | | name |
| 405710527 | CV3298571 | single nucleotide variant | NM_017797.4(BTBD2):c.833G>A (p.Arg278His) | not specified [RCV004426741] | uncertain significance | 19 | 1990159 | 1990159 | Human | | name |
| 407489047 | CV3421662 | single nucleotide variant | NM_017797.4(BTBD2):c.391C>T (p.Arg131Cys) | not specified [RCV004604081] | uncertain significance | 19 | 2015313 | 2015313 | Human | | name |
| 407489053 | CV3421663 | single nucleotide variant | NM_017797.4(BTBD2):c.923A>C (p.Lys308Thr) | not specified [RCV004604082] | uncertain significance | 19 | 1990069 | 1990069 | Human | | name |
| 597749726 | CV3647053 | single nucleotide variant | NM_017797.4(BTBD2):c.830T>C (p.Ile277Thr) | not specified [RCV004892415] | uncertain significance | 19 | 1990162 | 1990162 | Human | | name |
| 597749735 | CV3647062 | single nucleotide variant | NM_017797.4(BTBD2):c.367G>A (p.Val123Met) | not specified [RCV004892417] | uncertain significance | 19 | 2015337 | 2015337 | Human | | name |
| 598175539 | CV3949750 | single nucleotide variant | NM_017797.4(BTBD2):c.905C>T (p.Thr302Met) | not specified [RCV005309867] | uncertain significance | 19 | 1990087 | 1990087 | Human | | name |
| 598175546 | CV3949751 | single nucleotide variant | NM_017797.4(BTBD2):c.856G>A (p.Val286Ile) | not specified [RCV005309868] | uncertain significance | 19 | 1990136 | 1990136 | Human | | name |
| 598175571 | CV3949755 | single nucleotide variant | NM_017797.4(BTBD2):c.857T>C (p.Val286Ala) | not specified [RCV005309872] | uncertain significance | 19 | 1990135 | 1990135 | Human | | name |
| 598175575 | CV3949756 | single nucleotide variant | NM_017797.4(BTBD2):c.412G>A (p.Val138Met) | not specified [RCV005309873] | uncertain significance | 19 | 1997459 | 1997459 | Human | | name |
| 598211211 | CV3949760 | single nucleotide variant | NM_017797.4(BTBD2):c.877G>A (p.Glu293Lys) | not specified [RCV005315977] | uncertain significance | 19 | 1990115 | 1990115 | Human | | name |
| 155986493 | CV2247983 | single nucleotide variant | NM_017797.4(BTBD2):c.1387G>A (p.Val463Ile) | not specified [RCV004121410] | uncertain significance | 19 | 1986859 | 1986859 | Human | | name |
| 155984118 | CV2275327 | single nucleotide variant | NM_017797.4(BTBD2):c.1337C>T (p.Ala446Val) | not specified [RCV004137096] | uncertain significance | 19 | 1986909 | 1986909 | Human | | name |
| 156342576 | CV2344011 | single nucleotide variant | NM_017797.4(BTBD2):c.1001C>T (p.Ser334Leu) | not specified [RCV004195627] | uncertain significance | 19 | 1987680 | 1987680 | Human | | name |
| 401740515 | CV2679743 | single nucleotide variant | NM_017797.4(BTBD2):c.1420C>T (p.Pro474Ser) | not specified [RCV004282209] | uncertain significance | 19 | 1986646 | 1986646 | Human | | name |
| 405710455 | CV3298560 | single nucleotide variant | NM_017797.4(BTBD2):c.1085G>A (p.Arg362Gln) | not specified [RCV004426730] | uncertain significance | 19 | 1987596 | 1987596 | Human | | name |
| 405710464 | CV3298561 | single nucleotide variant | NM_017797.4(BTBD2):c.1088C>G (p.Pro363Arg) | not specified [RCV004426731] | uncertain significance | 19 | 1987593 | 1987593 | Human | | name |
| 405710473 | CV3298562 | single nucleotide variant | NM_017797.4(BTBD2):c.1327G>A (p.Asp443Asn) | not specified [RCV004426732] | uncertain significance | 19 | 1986919 | 1986919 | Human | | name |
| 405710480 | CV3298563 | single nucleotide variant | NM_017797.4(BTBD2):c.1348C>T (p.Arg450Cys) | not specified [RCV004426733] | uncertain significance | 19 | 1986898 | 1986898 | Human | | name |
| 405710487 | CV3298564 | single nucleotide variant | NM_017797.4(BTBD2):c.1351G>A (p.Val451Ile) | not specified [RCV004426734] | uncertain significance | 19 | 1986895 | 1986895 | Human | | name |
| 405710492 | CV3298565 | single nucleotide variant | NM_017797.4(BTBD2):c.1375G>A (p.Val459Met) | not specified [RCV004426735] | uncertain significance | 19 | 1986871 | 1986871 | Human | | name |
| 407489036 | CV3421660 | single nucleotide variant | NM_017797.4(BTBD2):c.1313C>T (p.Thr438Met) | not specified [RCV004604079] | uncertain significance | 19 | 1986933 | 1986933 | Human | | name |
| 407489042 | CV3421661 | single nucleotide variant | NM_017797.4(BTBD2):c.1207G>A (p.Val403Met) | not specified [RCV004604080] | uncertain significance | 19 | 1987228 | 1987228 | Human | | name |
| 597784652 | CV3647051 | single nucleotide variant | NM_017797.4(BTBD2):c.1295T>C (p.Val432Ala) | not specified [RCV004900537] | uncertain significance | 19 | 1986951 | 1986951 | Human | | name |
| 597749730 | CV3647056 | single nucleotide variant | NM_017797.4(BTBD2):c.1103G>T (p.Arg368Leu) | not specified [RCV004892416] | uncertain significance | 19 | 1987578 | 1987578 | Human | | name |
| 597784665 | CV3647057 | single nucleotide variant | NM_017797.4(BTBD2):c.1243C>T (p.Pro415Ser) | not specified [RCV004900541] | uncertain significance | 19 | 1987192 | 1987192 | Human | | name |
| 597784682 | CV3647061 | single nucleotide variant | NM_017797.4(BTBD2):c.1045T>G (p.Phe349Val) | not specified [RCV004900545] | uncertain significance | 19 | 1987636 | 1987636 | Human | | name |
| 597784687 | CV3647063 | single nucleotide variant | NM_017797.4(BTBD2):c.1274T>G (p.Ile425Ser) | not specified [RCV004900546] | uncertain significance | 19 | 1986972 | 1986972 | Human | | name |
| 597749745 | CV3647066 | single nucleotide variant | NM_017797.4(BTBD2):c.1546G>T (p.Gly516Cys) | not specified [RCV004892419] | uncertain significance | 19 | 1986520 | 1986520 | Human | | name |
| 598175552 | CV3949752 | single nucleotide variant | NM_017797.4(BTBD2):c.1463A>G (p.His488Arg) | not specified [RCV005309869] | uncertain significance | 19 | 1986603 | 1986603 | Human | | name |
| 598175557 | CV3949753 | single nucleotide variant | NM_017797.4(BTBD2):c.1300G>A (p.Gly434Ser) | not specified [RCV005309870] | uncertain significance | 19 | 1986946 | 1986946 | Human | | name |
| 598211196 | CV3949757 | single nucleotide variant | NM_017797.4(BTBD2):c.1097G>C (p.Cys366Ser) | not specified [RCV005315975] | uncertain significance | 19 | 1987584 | 1987584 | Human | | name |
| 598211204 | CV3949758 | single nucleotide variant | NM_017797.4(BTBD2):c.1309G>A (p.Asp437Asn) | not specified [RCV005315976] | uncertain significance | 19 | 1986937 | 1986937 | Human | | name |
| 405264188 | CV3189895 | microsatellite | NM_017797.4(BTBD2):c.124GCC[6] (p.Ala48_Ala54del) | BTBD2-related disorder [RCV003896943]|not provided [RCV004810563] | likely benign | 19 | 2015542 | 2015562 | Human | | name , trait , alternate_id |