| 150510535 | CV1211754 | single nucleotide variant | NM_001385648.2(B3GNT8):c.*7T>C | not provided [RCV001597649] | benign | 19 | 41425578 | 41425578 | Human | | name |
| 150482544 | CV1261638 | single nucleotide variant | NM_001385648.2(B3GNT8):c.-32-43A>G | not provided [RCV001686241] | benign | 19 | 41426853 | 41426853 | Human | | name |
| 150513218 | CV1228936 | single nucleotide variant | NM_001385648.2(B3GNT8):c.-33+226G>A | not provided [RCV001637778] | benign | 19 | 41427058 | 41427058 | Human | | name |
| 150451659 | CV1276624 | single nucleotide variant | NM_001385648.2(B3GNT8):c.-32-113C>T | not provided [RCV001708413] | benign | 19 | 41426923 | 41426923 | Human | | name |
| 150499379 | CV1254349 | single nucleotide variant | NM_001385648.2(B3GNT8):c.72G>A (p.Glu24=) | not provided [RCV001676523] | benign | 19 | 41426707 | 41426707 | Human | 3 | name |
| 401782327 | CV2686700 | single nucleotide variant | NM_001385648.2(B3GNT8):c.25T>A (p.Cys9Ser) | not specified [RCV004300108] | uncertain significance | 19 | 41426754 | 41426754 | Human | | name |
| 150452504 | CV1219721 | single nucleotide variant | NM_001385648.2(B3GNT8):c.621T>C (p.Ser207=) | not provided [RCV001612102] | benign | 19 | 41426158 | 41426158 | Human | 2 | name |
| 150504242 | CV1223911 | single nucleotide variant | NM_001385648.2(B3GNT8):c.393G>A (p.Leu131=) | not provided [RCV001621560] | benign | 19 | 41426386 | 41426386 | Human | | name |
| 150475676 | CV1239772 | single nucleotide variant | NM_001385648.2(B3GNT8):c.564G>A (p.Val188=) | not provided [RCV001651949] | benign | 19 | 41426215 | 41426215 | Human | 1 | name |
| 150475676 | CV1239772 | single nucleotide variant | NM_001385648.2(B3GNT8):c.564G>A (p.Val188=) | not provided [RCV001651949] | benign | 19 | 41426215 | 41426216 | Human | 1 | name |
| 150493298 | CV1267118 | single nucleotide variant | NM_001385648.2(B3GNT8):c.600C>A (p.Ala200=) | not provided [RCV001688145] | benign | 19 | 41426179 | 41426179 | Human | | name |
| 156304619 | CV2341577 | single nucleotide variant | NM_001385648.2(B3GNT8):c.82G>A (p.Glu28Lys) | not specified [RCV004188964] | uncertain significance | 19 | 41426697 | 41426697 | Human | | name |
| 407472038 | CV3417299 | single nucleotide variant | NM_001385648.2(B3GNT8):c.89G>T (p.Arg30Leu) | not specified [RCV004600043] | uncertain significance | 19 | 41426690 | 41426690 | Human | | name |
| 15200187 | CV728209 | single nucleotide variant | NM_001385648.2(B3GNT8):c.930C>T (p.Tyr310=) | not provided [RCV000890843] | benign | 19 | 41425849 | 41425849 | Human | | name |
| 156252403 | CV2212437 | single nucleotide variant | NM_001385648.2(B3GNT8):c.132C>A (p.Ser44Arg) | not specified [RCV004091347] | uncertain significance | 19 | 41426647 | 41426647 | Human | | name |
| 156113689 | CV2261474 | single nucleotide variant | NM_001385648.2(B3GNT8):c.209T>G (p.Phe70Cys) | not specified [RCV004130094] | uncertain significance | 19 | 41426570 | 41426570 | Human | | name |
| 155947994 | CV2271930 | single nucleotide variant | NM_001385648.2(B3GNT8):c.107C>T (p.Pro36Leu) | not specified [RCV004124752] | uncertain significance | 19 | 41426672 | 41426672 | Human | | name |
| 156071754 | CV2328626 | single nucleotide variant | NM_001385648.2(B3GNT8):c.254G>A (p.Ser85Asn) | not specified [RCV004177878] | uncertain significance | 19 | 41426525 | 41426525 | Human | | name |
| 401743449 | CV2684707 | single nucleotide variant | NM_001385648.2(B3GNT8):c.163C>T (p.Pro55Ser) | not specified [RCV004293798] | uncertain significance | 19 | 41426616 | 41426616 | Human | | name |
| 401767623 | CV2729794 | single nucleotide variant | NM_001385648.2(B3GNT8):c.236G>A (p.Arg79Gln) | not specified [RCV004332808] | uncertain significance | 19 | 41426543 | 41426543 | Human | | name |
| 401890367 | CV2768144 | single nucleotide variant | NM_001385648.2(B3GNT8):c.278G>A (p.Gly93Asp) | not specified [RCV004350159] | likely benign | 19 | 41426501 | 41426501 | Human | | name |
| 405690016 | CV3290608 | single nucleotide variant | NM_001385648.2(B3GNT8):c.210T>G (p.Phe70Leu) | not specified [RCV004423521] | uncertain significance | 19 | 41426569 | 41426569 | Human | | name |
| 405690839 | CV3290609 | single nucleotide variant | NM_001385648.2(B3GNT8):c.255T>G (p.Ser85Arg) | not specified [RCV004423522] | uncertain significance | 19 | 41426524 | 41426524 | Human | | name |
| 405690031 | CV3290610 | single nucleotide variant | NM_001385648.2(B3GNT8):c.272C>T (p.Thr91Met) | not specified [RCV004423523] | uncertain significance | 19 | 41426507 | 41426507 | Human | | name |
| 407472092 | CV3427001 | single nucleotide variant | NM_001385648.2(B3GNT8):c.182G>A (p.Arg61His) | not specified [RCV004600053] | uncertain significance | 19 | 41426597 | 41426597 | Human | | name |
| 150334362 | CV1173259 | single nucleotide variant | NM_001385648.2(B3GNT8):c.409A>G (p.Ser137Gly) | not provided [RCV001540004] | benign | 19 | 41426370 | 41426370 | Human | 3 | name |
| 156375341 | CV2210146 | single nucleotide variant | NM_001385648.2(B3GNT8):c.833C>T (p.Thr278Ile) | not specified [RCV004087537] | uncertain significance | 19 | 41425946 | 41425946 | Human | | name |
| 155979242 | CV2222829 | single nucleotide variant | NM_001385648.2(B3GNT8):c.781C>T (p.Arg261Trp) | not specified [RCV004101659] | uncertain significance | 19 | 41425998 | 41425998 | Human | | name |
| 155951817 | CV2264150 | single nucleotide variant | NM_001385648.2(B3GNT8):c.691T>C (p.Trp231Arg) | not specified [RCV004136305] | uncertain significance | 19 | 41426088 | 41426088 | Human | | name |
| 156029391 | CV2278621 | single nucleotide variant | NM_001385648.2(B3GNT8):c.334C>T (p.Pro112Ser) | not specified [RCV004134833] | uncertain significance | 19 | 41426445 | 41426445 | Human | | name |
| 155978080 | CV2339892 | single nucleotide variant | NM_001385648.2(B3GNT8):c.964C>T (p.Arg322Trp) | not specified [RCV004189998] | uncertain significance | 19 | 41425815 | 41425815 | Human | | name |
| 156177019 | CV2355819 | single nucleotide variant | NM_001385648.2(B3GNT8):c.731G>A (p.Arg244Gln) | not specified [RCV004201217] | likely benign | 19 | 41426048 | 41426048 | Human | | name |
| 156066360 | CV2380997 | single nucleotide variant | NM_001385648.2(B3GNT8):c.977G>A (p.Arg326His) | not specified [RCV004225039] | uncertain significance | 19 | 41425802 | 41425802 | Human | | name |
| 156209895 | CV2382692 | single nucleotide variant | NM_001385648.2(B3GNT8):c.976C>T (p.Arg326Cys) | not specified [RCV004233005] | uncertain significance | 19 | 41425803 | 41425803 | Human | | name |
| 329357199 | CV2431275 | single nucleotide variant | NM_001385648.2(B3GNT8):c.350G>A (p.Arg117His) | not specified [RCV004250608] | uncertain significance | 19 | 41426429 | 41426429 | Human | | name |
| 401729496 | CV2690275 | single nucleotide variant | NM_001385648.2(B3GNT8):c.943C>T (p.Arg315Cys) | not specified [RCV004302276] | uncertain significance | 19 | 41425836 | 41425836 | Human | | name |
| 401735629 | CV2702827 | single nucleotide variant | NM_001385648.2(B3GNT8):c.728T>C (p.Leu243Ser) | not specified [RCV004319386] | uncertain significance | 19 | 41426051 | 41426051 | Human | | name |
| 401757634 | CV2707887 | single nucleotide variant | NM_001385648.2(B3GNT8):c.312G>T (p.Glu104Asp) | not specified [RCV004309161] | uncertain significance | 19 | 41426467 | 41426467 | Human | | name |
| 401754065 | CV2716989 | single nucleotide variant | NM_001385648.2(B3GNT8):c.724G>C (p.Val242Leu) | not specified [RCV004330057] | uncertain significance | 19 | 41426055 | 41426055 | Human | | name |
| 405690041 | CV3290612 | single nucleotide variant | NM_001385648.2(B3GNT8):c.349C>A (p.Arg117Ser) | not specified [RCV004423525] | uncertain significance | 19 | 41426430 | 41426430 | Human | | name |
| 405690047 | CV3290613 | single nucleotide variant | NM_001385648.2(B3GNT8):c.371G>T (p.Cys124Phe) | not specified [RCV004423526] | uncertain significance | 19 | 41426408 | 41426408 | Human | | name |
| 405690055 | CV3290614 | single nucleotide variant | NM_001385648.2(B3GNT8):c.373C>T (p.Arg125Trp) | not specified [RCV004423527] | uncertain significance | 19 | 41426406 | 41426406 | Human | | name |
| 405690060 | CV3290615 | single nucleotide variant | NM_001385648.2(B3GNT8):c.940G>A (p.Gly314Arg) | not specified [RCV004423528] | uncertain significance | 19 | 41425839 | 41425839 | Human | | name |
| 405690068 | CV3290616 | single nucleotide variant | NM_001385648.2(B3GNT8):c.988T>C (p.Phe330Leu) | not specified [RCV004423529] | uncertain significance | 19 | 41425791 | 41425791 | Human | | name |
| 407472133 | CV3427010 | single nucleotide variant | NM_001385648.2(B3GNT8):c.806G>A (p.Arg269Gln) | not specified [RCV004600061] | likely benign | 19 | 41425973 | 41425973 | Human | | name |
| 407468400 | CV3427020 | single nucleotide variant | NM_001385648.2(B3GNT8):c.476G>A (p.Gly159Glu) | not specified [RCV004614687] | uncertain significance | 19 | 41426303 | 41426303 | Human | | name |
| 407468407 | CV3427031 | single nucleotide variant | NM_001385648.2(B3GNT8):c.431A>T (p.Asp144Val) | not specified [RCV004614689] | uncertain significance | 19 | 41426348 | 41426348 | Human | | name |
| 407472277 | CV3427042 | single nucleotide variant | NM_001385648.2(B3GNT8):c.530G>A (p.Gly177Glu) | not specified [RCV004600090] | uncertain significance | 19 | 41426249 | 41426249 | Human | | name |
| 597694016 | CV3624401 | single nucleotide variant | NM_001385648.2(B3GNT8):c.479G>A (p.Arg160His) | not specified [RCV004884908] | likely benign | 19 | 41426300 | 41426300 | Human | | name |
| 597694079 | CV3624411 | single nucleotide variant | NM_001385648.2(B3GNT8):c.298G>A (p.Ala100Thr) | not specified [RCV004884914] | uncertain significance | 19 | 41426481 | 41426481 | Human | | name |
| 597694201 | CV3624431 | single nucleotide variant | NM_001385648.2(B3GNT8):c.655T>C (p.Phe219Leu) | not specified [RCV004884926] | uncertain significance | 19 | 41426124 | 41426124 | Human | | name |
| 597694273 | CV3624442 | single nucleotide variant | NM_001385648.2(B3GNT8):c.782G>A (p.Arg261Gln) | not specified [RCV004884933] | likely benign | 19 | 41425997 | 41425997 | Human | | name |
| 597694496 | CV3624474 | single nucleotide variant | NM_001385648.2(B3GNT8):c.491G>A (p.Arg164Gln) | not specified [RCV004884953] | uncertain significance | 19 | 41426288 | 41426288 | Human | | name |
| 597694597 | CV3624485 | single nucleotide variant | NM_001385648.2(B3GNT8):c.872A>G (p.Tyr291Cys) | not specified [RCV004884962] | uncertain significance | 19 | 41425907 | 41425907 | Human | | name |
| 597753028 | CV3624493 | single nucleotide variant | NM_001385648.2(B3GNT8):c.839C>T (p.Ala280Val) | not specified [RCV004893070] | uncertain significance | 19 | 41425940 | 41425940 | Human | | name |
| 598256830 | CV3936819 | single nucleotide variant | NM_001385648.2(B3GNT8):c.665C>T (p.Thr222Met) | not specified [RCV005299700] | uncertain significance | 19 | 41426114 | 41426114 | Human | | name |
| 598218928 | CV3936830 | single nucleotide variant | NM_001385648.2(B3GNT8):c.535C>T (p.Arg179Trp) | not specified [RCV005293244] | uncertain significance | 19 | 41426244 | 41426244 | Human | | name |
| 598218945 | CV3936840 | single nucleotide variant | NM_001385648.2(B3GNT8):c.386A>G (p.Gln129Arg) | not specified [RCV005293246] | uncertain significance | 19 | 41426393 | 41426393 | Human | | name |
| 598256957 | CV3936851 | single nucleotide variant | NM_001385648.2(B3GNT8):c.301G>A (p.Ala101Thr) | not specified [RCV005299721] | uncertain significance | 19 | 41426478 | 41426478 | Human | | name |
| 156223356 | CV2232965 | single nucleotide variant | NM_001385648.2(B3GNT8):c.1043C>T (p.Pro348Leu) | not specified [RCV004103341] | uncertain significance | 19 | 41425736 | 41425736 | Human | | name |
| 156269766 | CV2326410 | single nucleotide variant | NM_001385648.2(B3GNT8):c.1166A>C (p.Gln389Pro) | not specified [RCV004182984] | uncertain significance | 19 | 41425613 | 41425613 | Human | | name |
| 155924139 | CV2352007 | single nucleotide variant | NM_001385648.2(B3GNT8):c.1127G>A (p.Arg376Gln) | not specified [RCV004191106] | uncertain significance | 19 | 41425652 | 41425652 | Human | | name |
| 156194492 | CV2398270 | single nucleotide variant | NM_001385648.2(B3GNT8):c.1181G>A (p.Arg394Lys) | not specified [RCV004235180] | uncertain significance | 19 | 41425598 | 41425598 | Human | | name |
| 329382530 | CV2424401 | single nucleotide variant | NM_001385648.2(B3GNT8):c.1079C>A (p.Ala360Glu) | not specified [RCV004252298] | uncertain significance | 19 | 41425700 | 41425700 | Human | | name |
| 329400892 | CV2449705 | single nucleotide variant | NM_001385648.2(B3GNT8):c.1166A>G (p.Gln389Arg) | not specified [RCV004268606] | uncertain significance | 19 | 41425613 | 41425613 | Human | | name |
| 405689994 | CV3290604 | single nucleotide variant | NM_001385648.2(B3GNT8):c.1042C>T (p.Pro348Ser) | not specified [RCV004423517] | uncertain significance | 19 | 41425737 | 41425737 | Human | | name |
| 405689999 | CV3290605 | single nucleotide variant | NM_001385648.2(B3GNT8):c.1063C>T (p.Leu355Phe) | not specified [RCV004423518] | uncertain significance | 19 | 41425716 | 41425716 | Human | | name |
| 405690006 | CV3290606 | single nucleotide variant | NM_001385648.2(B3GNT8):c.1084C>T (p.Arg362Cys) | not specified [RCV004423519] | uncertain significance | 19 | 41425695 | 41425695 | Human | | name |
| 405690010 | CV3290607 | single nucleotide variant | NM_001385648.2(B3GNT8):c.1117C>A (p.Leu373Met) | not specified [RCV004423520] | uncertain significance | 19 | 41425662 | 41425662 | Human | | name |
| 597752802 | CV3624422 | single nucleotide variant | NM_001385648.2(B3GNT8):c.1109G>A (p.Arg370His) | not specified [RCV004893047] | uncertain significance | 19 | 41425670 | 41425670 | Human | | name |
| 597752882 | CV3624463 | single nucleotide variant | NM_001385648.2(B3GNT8):c.1153C>T (p.Arg385Trp) | not specified [RCV004893065] | uncertain significance | 19 | 41425626 | 41425626 | Human | | name |
| 150460332 | CV1268481 | insertion | NM_001385648.2(B3GNT8):c.*35_*36insCCGGCCCTGGCC | not provided [RCV001693478] | benign | 19 | 41425549 | 41425550 | Human | | name |