| 405286267 | CV3192062 | single nucleotide variant | NM_053004.3(GNB1L):c.517-5C>T | GNB1L-related disorder [RCV003923986] | likely benign | 22 | 19802221 | 19802221 | Human | | name , trait , alternate_id |
| 401920317 | CV2821935 | single nucleotide variant | NM_053004.3(GNB1L):c.-21+2449C>T | not provided [RCV003431630] | benign | 22 | 19851994 | 19851994 | Human | | name |
| 405275560 | CV3199375 | single nucleotide variant | NM_053004.3(GNB1L):c.5C>T (p.Thr2Met) | GNB1L-related disorder [RCV003916788] | benign | 22 | 19821351 | 19821351 | Human | | name , trait , alternate_id |
| 13521211 | CV495769 | deletion | NM_053004.3(GNB1L):c.12del (p.Cys5fs) | not provided [RCV000599274] | uncertain significance | 22 | 19821344 | 19821344 | Human | | name |
| 15173958 | CV705789 | single nucleotide variant | NM_053004.3(GNB1L):c.66G>A (p.Pro22=) | not provided [RCV000950295] | benign | 22 | 19821290 | 19821290 | Human | | name |
| 405768245 | CV3262076 | single nucleotide variant | NM_053004.3(GNB1L):c.13T>C (p.Cys5Arg) | not specified [RCV004395466] | uncertain significance | 22 | 19821343 | 19821343 | Human | | name |
| 15189806 | CV742759 | single nucleotide variant | NM_053004.3(GNB1L):c.201C>T (p.Gly67=) | not provided [RCV000909761] | likely benign | 22 | 19820651 | 19820651 | Human | | name |
| 155986897 | CV2363737 | single nucleotide variant | NM_053004.3(GNB1L):c.50G>A (p.Arg17Gln) | not specified [RCV004218725] | uncertain significance | 22 | 19821306 | 19821306 | Human | | name |
| 405274483 | CV3208792 | single nucleotide variant | NM_053004.3(GNB1L):c.930C>T (p.Ala310=) | GNB1L-related disorder [RCV003951598] | likely benign | 22 | 19788763 | 19788763 | Human | | name , trait , alternate_id |
| 405288947 | CV3210004 | single nucleotide variant | NM_053004.3(GNB1L):c.912C>T (p.Thr304=) | GNB1L-related disorder [RCV003961483] | likely benign | 22 | 19788781 | 19788781 | Human | | name , trait , alternate_id |
| 405282563 | CV3212937 | single nucleotide variant | NM_053004.3(GNB1L):c.933G>A (p.Ala311=) | GNB1L-related disorder [RCV003957053] | likely benign | 22 | 19788760 | 19788760 | Human | | name , trait , alternate_id |
| 598264130 | CV3974365 | single nucleotide variant | NM_053004.3(GNB1L):c.495C>T (p.Pro165=) | not specified [RCV005348778] | likely benign | 22 | 19806680 | 19806680 | Human | | name |
| 13445778 | CV438222 | single nucleotide variant | NM_053004.3(GNB1L):c.53G>T (p.Gly18Val) | not provided [RCV000512848]|not specified [RCV004023466] | uncertain significance | 22 | 19821303 | 19821303 | Human | | name |
| 15163540 | CV705788 | single nucleotide variant | NM_053004.3(GNB1L):c.88G>A (p.Glu30Lys) | GNB1L-related disorder [RCV003913240]|not provided [RCV000948111] | benign | 22 | 19821268 | 19821268 | Human | | name , trait , alternate_id |
| 15148605 | CV717310 | single nucleotide variant | NM_053004.3(GNB1L):c.366C>G (p.Ala122=) | not provided [RCV000967580] | benign | 22 | 19812336 | 19812336 | Human | | name |
| 15187272 | CV729025 | single nucleotide variant | NM_053004.3(GNB1L):c.834C>T (p.Arg278=) | GNB1L-related disorder [RCV003968065]|not provided [RCV000887210] | benign | 22 | 19788859 | 19788859 | Human | | name , trait , alternate_id |
| 15166732 | CV729026 | single nucleotide variant | NM_053004.3(GNB1L):c.810C>T (p.Thr270=) | GNB1L-related disorder [RCV003920578]|not provided [RCV000882694] | benign | 22 | 19788883 | 19788883 | Human | | name , trait , alternate_id |
| 15188786 | CV729027 | single nucleotide variant | NM_053004.3(GNB1L):c.74C>T (p.Ala25Val) | not provided [RCV000887639] | likely benign | 22 | 19821282 | 19821282 | Human | | name |
| 15184211 | CV742758 | single nucleotide variant | NM_053004.3(GNB1L):c.369G>C (p.Gly123=) | not provided [RCV000908228] | benign | 22 | 19812333 | 19812333 | Human | | name |
| 15145662 | CV757954 | single nucleotide variant | NM_053004.3(GNB1L):c.768C>T (p.Ile256=) | not provided [RCV000922582] | likely benign | 22 | 19788925 | 19788925 | Human | | name |
| 15115078 | CV757955 | single nucleotide variant | NM_053004.3(GNB1L):c.468G>A (p.Pro156=) | not provided [RCV000917393] | likely benign | 22 | 19806707 | 19806707 | Human | | name |
| 156073528 | CV2251567 | single nucleotide variant | NM_053004.3(GNB1L):c.293C>T (p.Ala98Val) | not specified [RCV004117521] | uncertain significance | 22 | 19812409 | 19812409 | Human | | name |
| 156292951 | CV2296885 | single nucleotide variant | NM_053004.3(GNB1L):c.236A>T (p.Gln79Leu) | not specified [RCV004148759] | uncertain significance | 22 | 19820616 | 19820616 | Human | | name |
| 155941546 | CV2300868 | single nucleotide variant | NM_053004.3(GNB1L):c.238G>A (p.Gly80Arg) | not specified [RCV004158071] | uncertain significance | 22 | 19820614 | 19820614 | Human | | name |
| 156058367 | CV2383404 | single nucleotide variant | NM_053004.3(GNB1L):c.148C>T (p.His50Tyr) | not specified [RCV004222428] | uncertain significance | 22 | 19820704 | 19820704 | Human | | name |
| 155957036 | CV2387405 | single nucleotide variant | NM_053004.3(GNB1L):c.176C>T (p.Ala59Val) | not specified [RCV004240274] | uncertain significance | 22 | 19820676 | 19820676 | Human | | name |
| 401884204 | CV2782379 | single nucleotide variant | NM_053004.3(GNB1L):c.113C>T (p.Pro38Leu) | not specified [RCV004365120] | uncertain significance | 22 | 19821243 | 19821243 | Human | | name |
| 401907365 | CV2800204 | single nucleotide variant | NM_053004.3(GNB1L):c.226A>T (p.Thr76Ser) | GNB1L-related disorder [RCV003397339] | uncertain significance | 22 | 19820626 | 19820626 | Human | | name , trait , alternate_id |
| 405276558 | CV3193456 | single nucleotide variant | NM_053004.3(GNB1L):c.110G>A (p.Arg37His) | GNB1L-related disorder [RCV003974624] | benign | 22 | 19821246 | 19821246 | Human | | name , trait , alternate_id |
| 405256111 | CV3208675 | single nucleotide variant | NM_053004.3(GNB1L):c.208T>C (p.Cys70Arg) | GNB1L-related disorder [RCV003939736] | benign | 22 | 19820644 | 19820644 | Human | | name , trait , alternate_id |
| 405768249 | CV3262077 | single nucleotide variant | NM_053004.3(GNB1L):c.182C>T (p.Thr61Ile) | not specified [RCV004395467] | uncertain significance | 22 | 19820670 | 19820670 | Human | | name |
| 405768254 | CV3262078 | single nucleotide variant | NM_053004.3(GNB1L):c.290T>C (p.Leu97Pro) | not specified [RCV004395468] | uncertain significance | 22 | 19812412 | 19812412 | Human | | name |
| 12842813 | CV378584 | single nucleotide variant | NM_053004.3(GNB1L):c.170G>A (p.Arg57Gln) | GNB1L-related disorder [RCV003902500]|not specified [RCV000435096] | likely benign | 22 | 19820682 | 19820682 | Human | | name , trait , alternate_id |
| 598232736 | CV3974366 | single nucleotide variant | NM_053004.3(GNB1L):c.105G>C (p.Gln35His) | not specified [RCV005342646] | uncertain significance | 22 | 19821251 | 19821251 | Human | | name |
| 156189164 | CV2258472 | single nucleotide variant | NM_053004.3(GNB1L):c.944A>G (p.Asp315Gly) | not specified [RCV004115661] | uncertain significance | 22 | 19788749 | 19788749 | Human | | name |
| 156087928 | CV2259015 | single nucleotide variant | NM_053004.3(GNB1L):c.536C>T (p.Pro179Leu) | not specified [RCV004120281] | uncertain significance | 22 | 19802197 | 19802197 | Human | | name |
| 155945907 | CV2265908 | single nucleotide variant | NM_053004.3(GNB1L):c.608G>C (p.Arg203Pro) | not specified [RCV004126761] | uncertain significance | 22 | 19802125 | 19802125 | Human | | name |
| 156337988 | CV2271208 | single nucleotide variant | NM_053004.3(GNB1L):c.613G>A (p.Ala205Thr) | not specified [RCV004134569] | uncertain significance | 22 | 19802120 | 19802120 | Human | | name |
| 155940878 | CV2294154 | single nucleotide variant | NM_053004.3(GNB1L):c.520G>T (p.Asp174Tyr) | not specified [RCV004149521] | uncertain significance | 22 | 19802213 | 19802213 | Human | | name |
| 156286166 | CV2327211 | single nucleotide variant | NM_053004.3(GNB1L):c.517G>A (p.Ala173Thr) | not specified [RCV004174672] | uncertain significance | 22 | 19802216 | 19802216 | Human | | name |
| 155972064 | CV2335747 | single nucleotide variant | NM_053004.3(GNB1L):c.550G>A (p.Gly184Ser) | not specified [RCV004193945] | uncertain significance | 22 | 19802183 | 19802183 | Human | | name |
| 155977952 | CV2339875 | single nucleotide variant | NM_053004.3(GNB1L):c.533G>A (p.Arg178His) | not specified [RCV004189981] | uncertain significance | 22 | 19802200 | 19802200 | Human | | name |
| 156392474 | CV2386364 | single nucleotide variant | NM_053004.3(GNB1L):c.497T>C (p.Met166Thr) | not specified [RCV004228699] | uncertain significance | 22 | 19806678 | 19806678 | Human | | name |
| 329365811 | CV2441028 | single nucleotide variant | NM_053004.3(GNB1L):c.338T>C (p.Val113Ala) | not specified [RCV004261399] | uncertain significance | 22 | 19812364 | 19812364 | Human | | name |
| 329400367 | CV2441576 | single nucleotide variant | NM_053004.3(GNB1L):c.868G>T (p.Val290Leu) | not specified [RCV004259406] | uncertain significance | 22 | 19788825 | 19788825 | Human | | name |
| 329352899 | CV2470620 | single nucleotide variant | NM_053004.3(GNB1L):c.583G>A (p.Val195Ile) | not specified [RCV004273614] | uncertain significance | 22 | 19802150 | 19802150 | Human | | name |
| 401780697 | CV2685657 | single nucleotide variant | NM_053004.3(GNB1L):c.950G>A (p.Arg317Gln) | not specified [RCV004294664] | uncertain significance | 22 | 19788743 | 19788743 | Human | | name |
| 401725803 | CV2687272 | single nucleotide variant | NM_053004.3(GNB1L):c.794G>A (p.Arg265His) | not specified [RCV004298210] | uncertain significance | 22 | 19788899 | 19788899 | Human | | name |
| 401749378 | CV2706677 | single nucleotide variant | NM_053004.3(GNB1L):c.779C>T (p.Thr260Met) | not specified [RCV004319251] | uncertain significance | 22 | 19788914 | 19788914 | Human | | name |
| 405290942 | CV3197197 | single nucleotide variant | NM_053004.3(GNB1L):c.715T>G (p.Trp239Gly) | GNB1L-related disorder [RCV003984760] | benign | 22 | 19802018 | 19802018 | Human | | name , trait , alternate_id |
| 405287607 | CV3210706 | single nucleotide variant | NM_053004.3(GNB1L):c.851C>T (p.Thr284Met) | GNB1L-related disorder [RCV003924466] | benign | 22 | 19788842 | 19788842 | Human | | name , trait , alternate_id |
| 405768260 | CV3262079 | single nucleotide variant | NM_053004.3(GNB1L):c.457G>A (p.Ala153Thr) | not specified [RCV004395469] | likely benign | 22 | 19806718 | 19806718 | Human | | name |
| 405768272 | CV3262081 | single nucleotide variant | NM_053004.3(GNB1L):c.506G>A (p.Arg169Gln) | not specified [RCV004395471] | uncertain significance | 22 | 19806669 | 19806669 | Human | | name |
| 405768276 | CV3262082 | single nucleotide variant | NM_053004.3(GNB1L):c.559G>T (p.Asp187Tyr) | not specified [RCV004395472] | uncertain significance | 22 | 19802174 | 19802174 | Human | | name |
| 405768286 | CV3262084 | single nucleotide variant | NM_053004.3(GNB1L):c.826C>T (p.Arg276Cys) | not specified [RCV004395474] | uncertain significance | 22 | 19788867 | 19788867 | Human | | name |
| 405768292 | CV3262085 | single nucleotide variant | NM_053004.3(GNB1L):c.916G>C (p.Asp306His) | not specified [RCV004395475] | uncertain significance | 22 | 19788777 | 19788777 | Human | | name |
| 405768296 | CV3262086 | single nucleotide variant | NM_053004.3(GNB1L):c.977G>A (p.Arg326His) | not specified [RCV004395476] | uncertain significance | 22 | 19788716 | 19788716 | Human | | name |
| 407520003 | CV3443574 | single nucleotide variant | NM_053004.3(GNB1L):c.737G>A (p.Arg246His) | not specified [RCV004629886] | uncertain significance | 22 | 19788956 | 19788956 | Human | | name |
| 407504014 | CV3443575 | single nucleotide variant | NM_053004.3(GNB1L):c.920G>A (p.Gly307Asp) | not specified [RCV004623929] | uncertain significance | 22 | 19788773 | 19788773 | Human | | name |
| 407520007 | CV3443576 | single nucleotide variant | NM_053004.3(GNB1L):c.349C>T (p.Arg117Trp) | not specified [RCV004629887] | uncertain significance | 22 | 19812353 | 19812353 | Human | | name |
| 597730386 | CV3678220 | single nucleotide variant | NM_053004.3(GNB1L):c.811G>A (p.Ala271Thr) | not specified [RCV004919817] | uncertain significance | 22 | 19788882 | 19788882 | Human | | name |
| 597730396 | CV3678221 | single nucleotide variant | NM_053004.3(GNB1L):c.835G>A (p.Val279Met) | not specified [RCV004919818] | uncertain significance | 22 | 19788858 | 19788858 | Human | | name |
| 597730406 | CV3678223 | single nucleotide variant | NM_053004.3(GNB1L):c.380G>A (p.Arg127His) | not specified [RCV004919819] | uncertain significance | 22 | 19812322 | 19812322 | Human | | name |
| 597730418 | CV3678224 | single nucleotide variant | NM_053004.3(GNB1L):c.689A>G (p.Lys230Arg) | not specified [RCV004919820] | uncertain significance | 22 | 19802044 | 19802044 | Human | | name |
| 597788432 | CV3678225 | single nucleotide variant | NM_053004.3(GNB1L):c.631G>A (p.Val211Ile) | not specified [RCV004932740] | uncertain significance | 22 | 19802102 | 19802102 | Human | | name |
| 597788436 | CV3678226 | single nucleotide variant | NM_053004.3(GNB1L):c.668G>A (p.Gly223Asp) | not specified [RCV004932741] | uncertain significance | 22 | 19802065 | 19802065 | Human | | name |
| 597788440 | CV3678227 | single nucleotide variant | NM_053004.3(GNB1L):c.653C>T (p.Ser218Phe) | not specified [RCV004932742] | uncertain significance | 22 | 19802080 | 19802080 | Human | | name |
| 597788444 | CV3678228 | single nucleotide variant | NM_053004.3(GNB1L):c.973C>G (p.Pro325Ala) | not specified [RCV004932743] | uncertain significance | 22 | 19788720 | 19788720 | Human | | name |
| 597788449 | CV3678229 | single nucleotide variant | NM_053004.3(GNB1L):c.728T>A (p.Leu243Gln) | not specified [RCV004932744] | uncertain significance | 22 | 19802005 | 19802005 | Human | | name |
| 597788662 | CV3678230 | single nucleotide variant | NM_053004.3(GNB1L):c.326G>A (p.Cys109Tyr) | not specified [RCV004932745] | uncertain significance | 22 | 19812376 | 19812376 | Human | | name |
| 597730428 | CV3678231 | single nucleotide variant | NM_053004.3(GNB1L):c.598G>T (p.Val200Leu) | not specified [RCV004919821] | uncertain significance | 22 | 19802135 | 19802135 | Human | | name |
| 12836866 | CV377377 | single nucleotide variant | NM_053004.3(GNB1L):c.836T>C (p.Val279Ala) | not specified [RCV000424170] | likely benign|conflicting interpretations of pathogenicity | 22 | 19788857 | 19788857 | Human | | name |
| 598232729 | CV3974364 | single nucleotide variant | NM_053004.3(GNB1L):c.949C>T (p.Arg317Trp) | not specified [RCV005342645] | uncertain significance | 22 | 19788744 | 19788744 | Human | | name |
| 13798368 | CV551339 | single nucleotide variant | NM_053004.3(GNB1L):c.763G>A (p.Gly255Arg) | not provided [RCV000678290] | uncertain significance | 22 | 19788930 | 19788930 | Human | | name |