| 10449891 | CV215256 | single nucleotide variant | NM_022134.3(GAL3ST2):c.29+1G>A | not provided [RCV000960243]|not specified [RCV000203062] | likely benign|uncertain significance | 2 | 241776985 | 241776985 | Human | 2 | name |
| 10449891 | CV215256 | single nucleotide variant | NM_022134.3(GAL3ST2):c.29+1G>A | not provided [RCV000960243]|not specified [RCV000203062] | likely benign|uncertain significance | 2 | 241776985 | 241776986 | Human | 2 | name |
| 156344800 | CV2346224 | single nucleotide variant | NM_022134.3(GAL3ST2):c.14T>A (p.Leu5Gln) | not specified [RCV004203721] | uncertain significance | 2 | 241776969 | 241776969 | Human | | name |
| 597779623 | CV3673464 | single nucleotide variant | NM_022134.3(GAL3ST2):c.19G>A (p.Gly7Ser) | not specified [RCV004930427] | uncertain significance | 2 | 241776974 | 241776974 | Human | | name |
| 155921478 | CV2207207 | single nucleotide variant | NM_022134.3(GAL3ST2):c.98C>T (p.Ser33Leu) | not specified [RCV004087939] | uncertain significance | 2 | 241799133 | 241799133 | Human | | name |
| 156124026 | CV2350073 | single nucleotide variant | NM_022134.3(GAL3ST2):c.38G>A (p.Arg13Gln) | not specified [RCV004199998] | likely benign | 2 | 241799073 | 241799073 | Human | | name |
| 597753524 | CV3673465 | single nucleotide variant | NM_022134.3(GAL3ST2):c.82G>A (p.Ala28Thr) | not specified [RCV004924155] | uncertain significance | 2 | 241799117 | 241799117 | Human | | name |
| 598202436 | CV3977554 | single nucleotide variant | NM_022134.3(GAL3ST2):c.43A>C (p.Ile15Leu) | not specified [RCV005337098] | uncertain significance | 2 | 241799078 | 241799078 | Human | | name |
| 10044391 | CV188758 | single nucleotide variant | NM_022134.3(GAL3ST2):c.197C>T (p.Thr66Met) | not provided [RCV000171122] | likely pathogenic | 2 | 241801858 | 241801858 | Human | | name |
| 156040840 | CV2310837 | single nucleotide variant | NM_022134.3(GAL3ST2):c.173A>C (p.Lys58Thr) | not specified [RCV004163884] | uncertain significance | 2 | 241801834 | 241801834 | Human | | name |
| 155977390 | CV2338758 | single nucleotide variant | NM_022134.3(GAL3ST2):c.200T>C (p.Val67Ala) | not specified [RCV004182321] | uncertain significance | 2 | 241801861 | 241801861 | Human | | name |
| 407486563 | CV3436167 | single nucleotide variant | NM_022134.3(GAL3ST2):c.166T>C (p.Phe56Leu) | not specified [RCV004619140] | uncertain significance | 2 | 241801827 | 241801827 | Human | | name |
| 597753520 | CV3673462 | single nucleotide variant | NM_022134.3(GAL3ST2):c.149C>T (p.Pro50Leu) | not specified [RCV004924154] | uncertain significance | 2 | 241801810 | 241801810 | Human | | name |
| 597779619 | CV3673463 | single nucleotide variant | NM_022134.3(GAL3ST2):c.277G>A (p.Gly93Ser) | not specified [RCV004930426] | uncertain significance | 2 | 241801938 | 241801938 | Human | | name |
| 597753544 | CV3673470 | single nucleotide variant | NM_022134.3(GAL3ST2):c.281A>G (p.Tyr94Cys) | not specified [RCV004924160] | uncertain significance | 2 | 241801942 | 241801942 | Human | | name |
| 155944452 | CV2242048 | single nucleotide variant | NM_022134.3(GAL3ST2):c.728G>T (p.Trp243Leu) | not specified [RCV004108983] | uncertain significance | 2 | 241803697 | 241803697 | Human | | name |
| 156099031 | CV2250641 | single nucleotide variant | NM_022134.3(GAL3ST2):c.998A>T (p.Gln333Leu) | not specified [RCV004129274] | uncertain significance | 2 | 241803967 | 241803967 | Human | | name |
| 156000207 | CV2257726 | single nucleotide variant | NM_022134.3(GAL3ST2):c.718C>T (p.Arg240Trp) | not specified [RCV004127800] | uncertain significance | 2 | 241803687 | 241803687 | Human | | name |
| 156101409 | CV2291362 | single nucleotide variant | NM_022134.3(GAL3ST2):c.698C>G (p.Ser233Cys) | not specified [RCV004162049] | uncertain significance | 2 | 241803667 | 241803667 | Human | | name |
| 155944393 | CV2295139 | single nucleotide variant | NM_022134.3(GAL3ST2):c.473C>T (p.Ala158Val) | not specified [RCV004156237] | likely benign | 2 | 241803442 | 241803442 | Human | | name |
| 156289037 | CV2370737 | single nucleotide variant | NM_022134.3(GAL3ST2):c.799G>A (p.Glu267Lys) | not specified [RCV004209136] | uncertain significance | 2 | 241803768 | 241803768 | Human | | name |
| 155903828 | CV2386631 | single nucleotide variant | NM_022134.3(GAL3ST2):c.793T>G (p.Ser265Ala) | not specified [RCV004230973] | likely benign | 2 | 241803762 | 241803762 | Human | | name |
| 155955565 | CV2389980 | single nucleotide variant | NM_022134.3(GAL3ST2):c.623G>C (p.Gly208Ala) | not specified [RCV004238230] | uncertain significance | 2 | 241803592 | 241803592 | Human | | name |
| 329355984 | CV2434378 | single nucleotide variant | NM_022134.3(GAL3ST2):c.316G>A (p.Val106Met) | not specified [RCV004252044] | uncertain significance | 2 | 241801977 | 241801977 | Human | | name |
| 329377462 | CV2462644 | single nucleotide variant | NM_022134.3(GAL3ST2):c.442G>A (p.Glu148Lys) | not specified [RCV004278583] | uncertain significance | 2 | 241803411 | 241803411 | Human | | name |
| 401771344 | CV2675557 | single nucleotide variant | NM_022134.3(GAL3ST2):c.932G>T (p.Arg311Leu) | not specified [RCV004295171] | uncertain significance | 2 | 241803901 | 241803901 | Human | | name |
| 401890030 | CV2758488 | single nucleotide variant | NM_022134.3(GAL3ST2):c.682G>A (p.Glu228Lys) | not specified [RCV004335134] | uncertain significance | 2 | 241803651 | 241803651 | Human | | name |
| 401889761 | CV2763374 | single nucleotide variant | NM_022134.3(GAL3ST2):c.938G>A (p.Arg313Gln) | not specified [RCV004349265] | uncertain significance | 2 | 241803907 | 241803907 | Human | | name |
| 401885587 | CV2768276 | single nucleotide variant | NM_022134.3(GAL3ST2):c.550C>G (p.Leu184Val) | not specified [RCV004350265] | uncertain significance | 2 | 241803519 | 241803519 | Human | | name |
| 405733351 | CV3254297 | single nucleotide variant | NM_022134.3(GAL3ST2):c.301C>T (p.Arg101Cys) | not specified [RCV004390304] | uncertain significance | 2 | 241801962 | 241801962 | Human | | name |
| 405733361 | CV3254298 | single nucleotide variant | NM_022134.3(GAL3ST2):c.382A>G (p.Lys128Glu) | not specified [RCV004390305] | uncertain significance | 2 | 241803351 | 241803351 | Human | | name |
| 405733368 | CV3254299 | single nucleotide variant | NM_022134.3(GAL3ST2):c.913G>T (p.Gly305Trp) | not specified [RCV004390306] | uncertain significance | 2 | 241803882 | 241803882 | Human | | name |
| 405733376 | CV3254300 | single nucleotide variant | NM_022134.3(GAL3ST2):c.962G>A (p.Cys321Tyr) | not specified [RCV004390307] | uncertain significance | 2 | 241803931 | 241803931 | Human | | name |
| 405733382 | CV3254301 | single nucleotide variant | NM_022134.3(GAL3ST2):c.982C>T (p.Leu328Phe) | not specified [RCV004390308] | uncertain significance | 2 | 241803951 | 241803951 | Human | | name |
| 405733394 | CV3254303 | single nucleotide variant | NM_022134.3(GAL3ST2):c.992A>C (p.His331Pro) | not specified [RCV004390310] | uncertain significance | 2 | 241803961 | 241803961 | Human | | name |
| 407486551 | CV3436165 | single nucleotide variant | NM_022134.3(GAL3ST2):c.313G>A (p.Gly105Ser) | not specified [RCV004619138] | uncertain significance | 2 | 241801974 | 241801974 | Human | | name |
| 407486557 | CV3436166 | single nucleotide variant | NM_022134.3(GAL3ST2):c.703G>C (p.Val235Leu) | not specified [RCV004619139] | uncertain significance | 2 | 241803672 | 241803672 | Human | | name |
| 597753531 | CV3673467 | single nucleotide variant | NM_022134.3(GAL3ST2):c.886G>A (p.Ala296Thr) | not specified [RCV004924157] | uncertain significance | 2 | 241803855 | 241803855 | Human | | name |
| 597753534 | CV3673468 | single nucleotide variant | NM_022134.3(GAL3ST2):c.725G>C (p.Arg242Pro) | not specified [RCV004924158] | uncertain significance | 2 | 241803694 | 241803694 | Human | | name |
| 597753539 | CV3673469 | single nucleotide variant | NM_022134.3(GAL3ST2):c.866C>T (p.Thr289Ile) | not specified [RCV004924159] | uncertain significance | 2 | 241803835 | 241803835 | Human | | name |
| 597753548 | CV3673471 | single nucleotide variant | NM_022134.3(GAL3ST2):c.679G>A (p.Ala227Thr) | not specified [RCV004924161] | uncertain significance | 2 | 241803648 | 241803648 | Human | | name |
| 598202382 | CV3977543 | single nucleotide variant | NM_022134.3(GAL3ST2):c.694G>A (p.Glu232Lys) | not specified [RCV005337088] | uncertain significance | 2 | 241803663 | 241803663 | Human | | name |
| 598202389 | CV3977544 | single nucleotide variant | NM_022134.3(GAL3ST2):c.784G>A (p.Ala262Thr) | not specified [RCV005337089] | likely benign | 2 | 241803753 | 241803753 | Human | | name |
| 598202394 | CV3977545 | single nucleotide variant | NM_022134.3(GAL3ST2):c.731C>T (p.Ala244Val) | not specified [RCV005337090] | uncertain significance | 2 | 241803700 | 241803700 | Human | | name |
| 598202401 | CV3977546 | single nucleotide variant | NM_022134.3(GAL3ST2):c.806G>A (p.Arg269Gln) | not specified [RCV005337091] | likely benign | 2 | 241803775 | 241803775 | Human | | name |
| 598202405 | CV3977547 | single nucleotide variant | NM_022134.3(GAL3ST2):c.772G>A (p.Ala258Thr) | not specified [RCV005337092] | uncertain significance | 2 | 241803741 | 241803741 | Human | | name |
| 598202412 | CV3977548 | single nucleotide variant | NM_022134.3(GAL3ST2):c.725G>A (p.Arg242His) | not specified [RCV005337093] | uncertain significance | 2 | 241803694 | 241803694 | Human | | name |
| 598202417 | CV3977549 | single nucleotide variant | NM_022134.3(GAL3ST2):c.498C>A (p.Ser166Arg) | not specified [RCV005337094] | uncertain significance | 2 | 241803467 | 241803467 | Human | | name |
| 598202427 | CV3977551 | single nucleotide variant | NM_022134.3(GAL3ST2):c.578T>C (p.Met193Thr) | not specified [RCV005337096] | uncertain significance | 2 | 241803547 | 241803547 | Human | | name |
| 598158817 | CV3977552 | single nucleotide variant | NM_022134.3(GAL3ST2):c.427C>G (p.Pro143Ala) | not specified [RCV005328137] | uncertain significance | 2 | 241803396 | 241803396 | Human | | name |
| 155968628 | CV2244281 | single nucleotide variant | NM_022134.3(GAL3ST2):c.1129A>C (p.Met377Leu) | not specified [RCV004100274] | uncertain significance | 2 | 241804098 | 241804098 | Human | | name |
| 329355865 | CV2430515 | single nucleotide variant | NM_022134.3(GAL3ST2):c.1157C>G (p.Pro386Arg) | not specified [RCV004252101] | uncertain significance | 2 | 241804126 | 241804126 | Human | | name |
| 405733310 | CV3254292 | single nucleotide variant | NM_022134.3(GAL3ST2):c.1040C>T (p.Ala347Val) | not specified [RCV004390299] | uncertain significance | 2 | 241804009 | 241804009 | Human | | name |
| 405733321 | CV3254293 | single nucleotide variant | NM_022134.3(GAL3ST2):c.1059C>A (p.Asn353Lys) | not specified [RCV004390300] | uncertain significance | 2 | 241804028 | 241804028 | Human | | name |
| 405733328 | CV3254294 | single nucleotide variant | NM_022134.3(GAL3ST2):c.1124A>G (p.Gln375Arg) | not specified [RCV004390301] | uncertain significance | 2 | 241804093 | 241804093 | Human | | name |
| 405733335 | CV3254295 | single nucleotide variant | NM_022134.3(GAL3ST2):c.1163A>C (p.Lys388Thr) | not specified [RCV004390302] | uncertain significance | 2 | 241804132 | 241804132 | Human | | name |
| 405733344 | CV3254296 | single nucleotide variant | NM_022134.3(GAL3ST2):c.1181C>G (p.Pro394Arg) | not specified [RCV004390303] | uncertain significance | 2 | 241804150 | 241804150 | Human | | name |
| 407486526 | CV3436161 | single nucleotide variant | NM_022134.3(GAL3ST2):c.1022C>T (p.Pro341Leu) | not specified [RCV004619134] | uncertain significance | 2 | 241803991 | 241803991 | Human | | name |
| 407486865 | CV3436163 | single nucleotide variant | NM_022134.3(GAL3ST2):c.1019G>A (p.Arg340His) | not specified [RCV004619136] | uncertain significance | 2 | 241803988 | 241803988 | Human | | name |
| 407486544 | CV3436164 | single nucleotide variant | NM_022134.3(GAL3ST2):c.1008C>A (p.Asp336Glu) | not specified [RCV004619137] | uncertain significance | 2 | 241803977 | 241803977 | Human | | name |
| 598202421 | CV3977550 | single nucleotide variant | NM_022134.3(GAL3ST2):c.1157C>T (p.Pro386Leu) | not specified [RCV005337095] | uncertain significance | 2 | 241804126 | 241804126 | Human | | name |
| 598202432 | CV3977553 | single nucleotide variant | NM_022134.3(GAL3ST2):c.1113G>A (p.Met371Ile) | not specified [RCV005337097] | uncertain significance | 2 | 241804082 | 241804082 | Human | | name |