| 616933723 | CV4011685 | duplication | NM_001394073.1(HS6ST2):c.980+4dup | not specified [RCV005408234] | uncertain significance | X | 132708457 | 132708458 | Human | | name |
| 8587181 | CV121808 | single nucleotide variant | NM_001077188.1(HS6ST2):c.948-50482G>T | Lung cancer [RCV000102328] | uncertain significance | X | 132758976 | 132758976 | Human | | name |
| 8587180 | CV121807 | single nucleotide variant | NM_001077188.1(HS6ST2):c.1067+15305C>T | Lung cancer [RCV000102327] | uncertain significance | X | 132653808 | 132653808 | Human | | name |
| 405287116 | CV3210552 | deletion | NM_001394073.1(HS6ST2):c.23del (p.Val8fs) | HS6ST2-related disorder [RCV003924332] | benign | X | 132958580 | 132958580 | Human | | name , trait , alternate_id |
| 156068524 | CV2237056 | single nucleotide variant | NM_001394073.1(HS6ST2):c.16T>C (p.Cys6Arg) | not specified [RCV004114819] | uncertain significance | X | 132958587 | 132958587 | Human | | name |
| 401929451 | CV2824027 | single nucleotide variant | NM_001394073.1(HS6ST2):c.237G>A (p.Ala79=) | not provided [RCV003439859] | likely benign | X | 132958366 | 132958366 | Human | | name |
| 405288603 | CV3193710 | single nucleotide variant | NM_001394073.1(HS6ST2):c.14C>A (p.Ala5Glu) | HS6ST2-related disorder [RCV003982716] | uncertain significance | X | 132958589 | 132958589 | Human | | name , trait , alternate_id |
| 405866636 | CV3401041 | single nucleotide variant | NM_001394073.1(HS6ST2):c.18T>A (p.Cys6Ter) | Paganini-Miozzo syndrome [RCV004577157] | uncertain significance | X | 132958585 | 132958585 | Human | 1 | name |
| 596921905 | CV3535533 | single nucleotide variant | NM_001394073.1(HS6ST2):c.25C>T (p.Arg9Trp) | Paganini-Miozzo syndrome [RCV004785088] | uncertain significance | X | 132958578 | 132958578 | Human | 1 | name |
| 597773718 | CV3689614 | single nucleotide variant | NM_001394073.1(HS6ST2):c.22G>T (p.Val8Phe) | not specified [RCV004928962] | uncertain significance | X | 132958581 | 132958581 | Human | | name |
| 401777151 | CV2730160 | single nucleotide variant | NM_001394073.1(HS6ST2):c.89G>T (p.Arg30Leu) | not provided [RCV003436016]|not specified [RCV004332444] | likely benign|uncertain significance | X | 132958514 | 132958514 | Human | | name |
| 401929448 | CV2824026 | single nucleotide variant | NM_001394073.1(HS6ST2):c.687C>T (p.Ile229=) | not provided [RCV003439858] | likely benign | X | 132957068 | 132957068 | Human | | name |
| 598255518 | CV3972040 | single nucleotide variant | NM_001394073.1(HS6ST2):c.41C>T (p.Pro14Leu) | not specified [RCV005346574] | uncertain significance | X | 132958562 | 132958562 | Human | | name |
| 598255538 | CV3972044 | single nucleotide variant | NM_001394073.1(HS6ST2):c.50C>A (p.Pro17Gln) | not specified [RCV005346578] | uncertain significance | X | 132958553 | 132958553 | Human | | name |
| 15167489 | CV729414 | single nucleotide variant | NM_001394073.1(HS6ST2):c.975A>G (p.Ala325=) | Paganini-Miozzo syndrome [RCV002507561]|not provided [RCV000882857] | benign|likely benign | X | 132708467 | 132708467 | Human | 1 | name |
| 15187856 | CV729415 | single nucleotide variant | NM_001394073.1(HS6ST2):c.321G>T (p.Leu107=) | not provided [RCV000887369] | benign | X | 132958282 | 132958282 | Human | | name |
| 42723804 | CV984713 | single nucleotide variant | NM_001394073.1(HS6ST2):c.67G>T (p.Val23Phe) | Paganini-Miozzo syndrome [RCV001291830] | uncertain significance | X | 132958536 | 132958536 | Human | 1 | name |
| 401929442 | CV2824024 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1011C>T (p.Asn337=) | not provided [RCV003439856] | likely benign | X | 132669169 | 132669169 | Human | | name |
| 405255734 | CV3210840 | single nucleotide variant | NM_001394073.1(HS6ST2):c.146C>T (p.Ser49Leu) | HS6ST2-related disorder [RCV003939346] | benign | X | 132958457 | 132958457 | Human | | name , trait , alternate_id |
| 405803350 | CV3274090 | single nucleotide variant | NM_001394073.1(HS6ST2):c.254C>T (p.Pro85Leu) | not specified [RCV004404397] | uncertain significance | X | 132958349 | 132958349 | Human | | name |
| 597773714 | CV3689613 | single nucleotide variant | NM_001394073.1(HS6ST2):c.196C>A (p.Pro66Thr) | not specified [RCV004928961] | uncertain significance | X | 132958407 | 132958407 | Human | | name |
| 597773722 | CV3689615 | single nucleotide variant | NM_001394073.1(HS6ST2):c.137T>G (p.Val46Gly) | not specified [RCV004928963] | uncertain significance | X | 132958466 | 132958466 | Human | | name |
| 15169405 | CV706105 | single nucleotide variant | NM_001394073.1(HS6ST2):c.152G>T (p.Arg51Leu) | HS6ST2-related disorder [RCV003970700]|not provided [RCV000949451] | benign | X | 132958451 | 132958451 | Human | 1 | name , trait , alternate_id |
| 38468181 | CV920998 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1878G>A (p.Gln626=) | not provided [RCV001200548] | likely benign | X | 132628283 | 132628283 | Human | | name |
| 42723803 | CV984712 | single nucleotide variant | NM_001394073.1(HS6ST2):c.155C>T (p.Ala52Val) | Paganini-Miozzo syndrome [RCV001291828] | uncertain significance | X | 132958448 | 132958448 | Human | 1 | name |
| 126740902 | CV1018910 | single nucleotide variant | NM_001394073.1(HS6ST2):c.652A>C (p.Lys218Gln) | Paganini-Miozzo syndrome [RCV001329557]|not specified [RCV004035679] | uncertain significance | X | 132957103 | 132957103 | Human | 1 | name |
| 150453116 | CV1203736 | single nucleotide variant | NM_001394073.1(HS6ST2):c.322G>A (p.Gly108Ser) | Paganini-Miozzo syndrome [RCV001591692] | uncertain significance | X | 132958281 | 132958281 | Human | 1 | name |
| 156360858 | CV2269124 | single nucleotide variant | NM_001394073.1(HS6ST2):c.994G>T (p.Gly332Cys) | not specified [RCV004130298] | uncertain significance | X | 132669186 | 132669186 | Human | | name |
| 155997016 | CV2288571 | single nucleotide variant | NM_001394073.1(HS6ST2):c.836C>G (p.Ser279Cys) | not specified [RCV004152093] | uncertain significance | X | 132956919 | 132956919 | Human | | name |
| 156060011 | CV2317023 | single nucleotide variant | NM_001394073.1(HS6ST2):c.687C>G (p.Ile229Met) | not specified [RCV004174520] | uncertain significance | X | 132957068 | 132957068 | Human | | name |
| 329393075 | CV2469277 | single nucleotide variant | NM_001394073.1(HS6ST2):c.572C>G (p.Pro191Arg) | not specified [RCV004280614] | likely benign | X | 132957183 | 132957183 | Human | | name |
| 401717909 | CV2724959 | single nucleotide variant | NM_001394073.1(HS6ST2):c.604G>T (p.Ala202Ser) | not specified [RCV004319723] | uncertain significance | X | 132957151 | 132957151 | Human | | name |
| 401728981 | CV2729938 | single nucleotide variant | NM_001394073.1(HS6ST2):c.568G>A (p.Val190Met) | not specified [RCV004332936] | likely benign | X | 132957187 | 132957187 | Human | | name |
| 401867953 | CV2749085 | single nucleotide variant | NM_001394073.1(HS6ST2):c.536A>G (p.Gln179Arg) | not specified [RCV003331911] | uncertain significance | X | 132957219 | 132957219 | Human | | name |
| 401888489 | CV2785020 | single nucleotide variant | NM_001394073.1(HS6ST2):c.941C>G (p.Pro314Arg) | HS6ST2-related disorder [RCV004757585]|not specified [RCV004355039] | uncertain significance | X | 132956814 | 132956814 | Human | 1 | name , trait , alternate_id |
| 401929444 | CV2824025 | single nucleotide variant | NM_001394073.1(HS6ST2):c.917G>C (p.Gly306Ala) | not provided [RCV003439857] | uncertain significance | X | 132956838 | 132956838 | Human | | name |
| 405803352 | CV3274091 | single nucleotide variant | NM_001394073.1(HS6ST2):c.353G>A (p.Gly118Asp) | not specified [RCV004404398] | uncertain significance | X | 132958250 | 132958250 | Human | | name |
| 405803353 | CV3274092 | single nucleotide variant | NM_001394073.1(HS6ST2):c.384C>G (p.His128Gln) | not specified [RCV004404399] | uncertain significance | X | 132958219 | 132958219 | Human | | name |
| 405803355 | CV3274093 | single nucleotide variant | NM_001394073.1(HS6ST2):c.643C>G (p.Leu215Val) | not specified [RCV004404400] | uncertain significance | X | 132957112 | 132957112 | Human | | name |
| 405803357 | CV3274094 | single nucleotide variant | NM_001394073.1(HS6ST2):c.905C>T (p.Ser302Phe) | not specified [RCV004404401] | uncertain significance | X | 132956850 | 132956850 | Human | | name |
| 405803359 | CV3274095 | single nucleotide variant | NM_001394073.1(HS6ST2):c.992G>A (p.Arg331Gln) | not specified [RCV004404402] | uncertain significance | X | 132669188 | 132669188 | Human | | name |
| 405853535 | CV3392828 | single nucleotide variant | NM_001394073.1(HS6ST2):c.727G>A (p.Gly243Ser) | not specified [RCV004526554] | uncertain significance | X | 132957028 | 132957028 | Human | | name |
| 407458135 | CV3433975 | single nucleotide variant | NM_001394073.1(HS6ST2):c.915C>A (p.Asp305Glu) | not specified [RCV004633155] | uncertain significance | X | 132956840 | 132956840 | Human | | name |
| 597773697 | CV3689610 | single nucleotide variant | NM_001394073.1(HS6ST2):c.318C>A (p.Asp106Glu) | not specified [RCV004928958] | uncertain significance | X | 132958285 | 132958285 | Human | | name |
| 597773945 | CV3689611 | single nucleotide variant | NM_001394073.1(HS6ST2):c.811G>C (p.Gly271Arg) | not specified [RCV004928959] | uncertain significance | X | 132956944 | 132956944 | Human | | name |
| 597773707 | CV3689612 | single nucleotide variant | NM_001394073.1(HS6ST2):c.565C>G (p.Pro189Ala) | not specified [RCV004928960] | uncertain significance | X | 132957190 | 132957190 | Human | | name |
| 598255533 | CV3972043 | single nucleotide variant | NM_001394073.1(HS6ST2):c.386T>C (p.Val129Ala) | not specified [RCV005346577] | uncertain significance | X | 132958217 | 132958217 | Human | | name |
| 14696304 | CV622129 | single nucleotide variant | NM_001394073.1(HS6ST2):c.916G>C (p.Gly306Arg) | Paganini-Miozzo syndrome [RCV000782268] | pathogenic | X | 132956839 | 132956839 | Human | 1 | name |
| 150436584 | CV1275199 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1853C>T (p.Pro618Leu) | Paganini-Miozzo syndrome [RCV001702354] | likely benign | X | 132628308 | 132628308 | Human | 1 | name |
| 151349914 | CV1324529 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1182G>C (p.Arg394Ser) | Paganini-Miozzo syndrome [RCV001808974] | uncertain significance | X | 132628979 | 132628979 | Human | 1 | name |
| 155741222 | CV1779874 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1742C>T (p.Pro581Leu) | not provided [RCV003387543]|not specified [RCV002302478] | uncertain significance | X | 132628419 | 132628419 | Human | | name |
| 156398886 | CV2194845 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1241C>A (p.Pro414His) | Paganini-Miozzo syndrome [RCV005399159]|not specified [RCV004075380] | benign|uncertain significance | X | 132628920 | 132628920 | Human | 1 | name |
| 155968241 | CV2216993 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1064G>A (p.Gly355Glu) | not specified [RCV004085354] | uncertain significance | X | 132669116 | 132669116 | Human | | name |
| 156241415 | CV2246103 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1788C>G (p.Asn596Lys) | not specified [RCV004114007] | uncertain significance | X | 132628373 | 132628373 | Human | | name |
| 155971403 | CV2309296 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1220G>A (p.Gly407Asp) | not specified [RCV004165458] | uncertain significance | X | 132628941 | 132628941 | Human | | name |
| 156078427 | CV2318731 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1575G>T (p.Met525Ile) | not specified [RCV004175664] | uncertain significance | X | 132628586 | 132628586 | Human | | name |
| 156246997 | CV2357023 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1640A>C (p.His547Pro) | not specified [RCV004206828] | uncertain significance | X | 132628521 | 132628521 | Human | | name |
| 155991102 | CV2384127 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1692G>C (p.Arg564Ser) | not specified [RCV004227531] | uncertain significance | X | 132628469 | 132628469 | Human | | name |
| 243060038 | CV2407787 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1331A>G (p.Asn444Ser) | Paganini-Miozzo syndrome [RCV003135621] | uncertain significance | X | 132628830 | 132628830 | Human | 1 | name |
| 329374829 | CV2431062 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1226A>G (p.Asp409Gly) | not specified [RCV004250430] | uncertain significance | X | 132628935 | 132628935 | Human | | name |
| 329365844 | CV2441155 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1843C>T (p.Arg615Trp) | not specified [RCV004263554] | uncertain significance | X | 132628318 | 132628318 | Human | | name |
| 401758478 | CV2694123 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1844G>A (p.Arg615Gln) | not specified [RCV004302553] | uncertain significance | X | 132628317 | 132628317 | Human | | name |
| 401775211 | CV2709863 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1339G>C (p.Val447Leu) | not provided [RCV003436011]|not specified [RCV004321160] | likely benign|uncertain significance | X | 132628822 | 132628822 | Human | | name |
| 401856969 | CV2765148 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1058A>G (p.Lys353Arg) | not specified [RCV004339681] | uncertain significance | X | 132669122 | 132669122 | Human | | name |
| 401879304 | CV2773007 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1681C>A (p.Leu561Met) | not specified [RCV004351459] | uncertain significance | X | 132628480 | 132628480 | Human | | name |
| 401929439 | CV2824023 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1406C>T (p.Ala469Val) | not provided [RCV003439855] | uncertain significance | X | 132628755 | 132628755 | Human | | name |
| 405260130 | CV3190177 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1666G>A (p.Glu556Lys) | HS6ST2-related disorder [RCV003894579] | uncertain significance | X | 132628495 | 132628495 | Human | | name , trait , alternate_id |
| 405276663 | CV3206816 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1531G>A (p.Glu511Lys) | HS6ST2-related disorder [RCV003917245] | benign | X | 132628630 | 132628630 | Human | | name , trait , alternate_id |
| 405283898 | CV3213397 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1648G>T (p.Ala550Ser) | HS6ST2-related disorder [RCV003921984] | likely benign | X | 132628513 | 132628513 | Human | | name , trait , alternate_id |
| 405803344 | CV3274087 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1045C>T (p.Arg349Trp) | not specified [RCV004404394] | uncertain significance | X | 132669135 | 132669135 | Human | | name |
| 405803348 | CV3274089 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1538T>C (p.Ile513Thr) | not specified [RCV004404396] | uncertain significance | X | 132628623 | 132628623 | Human | | name |
| 405872226 | CV3398320 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1619A>G (p.Gln540Arg) | not provided [RCV004575321] | uncertain significance | X | 132628542 | 132628542 | Human | | name |
| 598255523 | CV3972041 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1720G>A (p.Gly574Ser) | not specified [RCV005346575] | likely benign | X | 132628441 | 132628441 | Human | | name |
| 598255527 | CV3972042 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1260C>A (p.Asp420Glu) | not specified [RCV005346576] | uncertain significance | X | 132628901 | 132628901 | Human | | name |
| 28889206 | CV860786 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1481C>T (p.Ser494Leu) | not provided [RCV001092158] | uncertain significance | X | 132628680 | 132628680 | Human | | name |
| 34890597 | CV904717 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1724A>G (p.Gln575Arg) | not provided [RCV001171646] | uncertain significance | X | 132628437 | 132628437 | Human | | name |
| 8637757 | CV92983 | single nucleotide variant | NM_001394073.1(HS6ST2):c.1655G>A (p.Arg552Gln) | not specified [RCV004928957] | uncertain significance|not provided | X | 132628506 | 132628506 | Human | | name |
| 8637758 | CV92984 | single nucleotide variant | NM_001077188.1(HS6ST2):c.1257G>A (p.Met419Ile) | Malignant melanoma [RCV000073082] | not provided | X | 132628904 | 132628904 | Human | | name |