| 155265953 | CV1696138 | single nucleotide variant | NM_015698.6(GPKOW):c.331+5G>A | not provided [RCV002280854] | uncertain significance | X | 49122617 | 49122617 | Human | | name |
| 405141525 | CV2903802 | single nucleotide variant | NM_015698.6(GPKOW):c.1211-4A>G | not provided [RCV003560795] | likely benign | X | 49113942 | 49113942 | Human | | name |
| 405288427 | CV3197438 | single nucleotide variant | NM_015698.6(GPKOW):c.456+10C>T | GPKOW-related disorder [RCV003982534] | benign | X | 49122388 | 49122388 | Human | | name , trait , alternate_id |
| 405292120 | CV3217103 | single nucleotide variant | NM_015698.6(GPKOW):c.1297-4C>T | GPKOW-related disorder [RCV003964348] | benign | X | 49113759 | 49113759 | Human | | name , trait , alternate_id |
| 405287678 | CV3217861 | single nucleotide variant | NM_015698.6(GPKOW):c.11C>G (p.Ser4Cys) | GPKOW-related disorder [RCV003981984] | benign | X | 49123712 | 49123712 | Human | | name , trait , alternate_id |
| 156216111 | CV2347948 | single nucleotide variant | NM_015698.6(GPKOW):c.55A>G (p.Ile19Val) | not specified [RCV004197638] | uncertain significance | X | 49123668 | 49123668 | Human | | name |
| 401927007 | CV2821699 | single nucleotide variant | NM_015698.6(GPKOW):c.498C>T (p.Ala166=) | not provided [RCV003438284] | uncertain significance | X | 49119773 | 49119773 | Human | | name |
| 15166923 | CV729631 | single nucleotide variant | NM_015698.6(GPKOW):c.366G>A (p.Ala122=) | GPKOW-related disorder [RCV003930579]|not provided [RCV000882739] | likely benign | X | 49122488 | 49122488 | Human | | name , trait , alternate_id |
| 15177474 | CV743372 | single nucleotide variant | NM_015698.6(GPKOW):c.429G>C (p.Gly143=) | GPKOW-related disorder [RCV003932916]|not provided [RCV000906659] | benign | X | 49122425 | 49122425 | Human | | name , trait , alternate_id |
| 329358872 | CV2425420 | single nucleotide variant | NM_015698.6(GPKOW):c.236G>T (p.Arg79Leu) | not specified [RCV004251076] | uncertain significance | X | 49122717 | 49122717 | Human | | name |
| 329381851 | CV2467388 | single nucleotide variant | NM_015698.6(GPKOW):c.141T>G (p.Asp47Glu) | not specified [RCV004285175] | uncertain significance | X | 49123582 | 49123582 | Human | | name |
| 401926975 | CV2821700 | single nucleotide variant | NM_015698.6(GPKOW):c.152C>T (p.Thr51Ile) | not provided [RCV003438285] | likely benign | X | 49123571 | 49123571 | Human | | name |
| 405288270 | CV3197239 | single nucleotide variant | NM_015698.6(GPKOW):c.1335G>A (p.Arg445=) | GPKOW-related disorder [RCV003982335] | benign | X | 49113717 | 49113717 | Human | | name , trait , alternate_id |
| 405788601 | CV3255032 | single nucleotide variant | NM_015698.6(GPKOW):c.274G>A (p.Asp92Asn) | not specified [RCV004388180] | uncertain significance | X | 49122679 | 49122679 | Human | | name |
| 407525986 | CV3440021 | single nucleotide variant | NM_015698.6(GPKOW):c.111C>G (p.Asp37Glu) | not specified [RCV004632293] | uncertain significance | X | 49123612 | 49123612 | Human | | name |
| 156284310 | CV2249828 | single nucleotide variant | NM_015698.6(GPKOW):c.511A>G (p.Met171Val) | not specified [RCV004122577] | uncertain significance | X | 49119760 | 49119760 | Human | | name |
| 156166424 | CV2270415 | single nucleotide variant | NM_015698.6(GPKOW):c.445C>T (p.Arg149Trp) | not specified [RCV004137392] | uncertain significance | X | 49122409 | 49122409 | Human | | name |
| 155927176 | CV2285075 | single nucleotide variant | NM_015698.6(GPKOW):c.745G>C (p.Val249Leu) | not specified [RCV004145309] | uncertain significance | X | 49117632 | 49117632 | Human | | name |
| 329400376 | CV2441588 | single nucleotide variant | NM_015698.6(GPKOW):c.394A>G (p.Met132Val) | not specified [RCV004259416] | uncertain significance | X | 49122460 | 49122460 | Human | | name |
| 329401565 | CV2461055 | single nucleotide variant | NM_015698.6(GPKOW):c.415C>T (p.Pro139Ser) | not specified [RCV004265206] | uncertain significance | X | 49122439 | 49122439 | Human | | name |
| 401753080 | CV2674772 | single nucleotide variant | NM_015698.6(GPKOW):c.838C>T (p.Arg280Trp) | not specified [RCV004294052] | uncertain significance | X | 49117105 | 49117105 | Human | | name |
| 401769741 | CV2731591 | single nucleotide variant | NM_015698.6(GPKOW):c.907G>A (p.Asp303Asn) | not specified [RCV004330936] | uncertain significance | X | 49117036 | 49117036 | Human | | name |
| 401873355 | CV2761436 | single nucleotide variant | NM_015698.6(GPKOW):c.827C>T (p.Ala276Val) | not specified [RCV004334615] | uncertain significance | X | 49117116 | 49117116 | Human | | name |
| 401877025 | CV2767800 | single nucleotide variant | NM_015698.6(GPKOW):c.421G>A (p.Gly141Arg) | not specified [RCV004345922] | uncertain significance | X | 49122433 | 49122433 | Human | | name |
| 401877045 | CV2793328 | single nucleotide variant | NM_015698.6(GPKOW):c.430G>A (p.Ala144Thr) | not specified [RCV004362142] | uncertain significance | X | 49122424 | 49122424 | Human | | name |
| 407525994 | CV3440023 | single nucleotide variant | NM_015698.6(GPKOW):c.650C>G (p.Pro217Arg) | not specified [RCV004632295] | uncertain significance | X | 49117727 | 49117727 | Human | | name |
| 407526002 | CV3440025 | single nucleotide variant | NM_015698.6(GPKOW):c.628A>C (p.Thr210Pro) | not specified [RCV004632297] | uncertain significance | X | 49117749 | 49117749 | Human | | name |
| 407526005 | CV3440026 | single nucleotide variant | NM_015698.6(GPKOW):c.341A>C (p.Lys114Thr) | not specified [RCV004632298] | uncertain significance | X | 49122513 | 49122513 | Human | | name |
| 597789467 | CV3684627 | single nucleotide variant | NM_015698.6(GPKOW):c.935C>T (p.Ser312Leu) | not specified [RCV004932972] | uncertain significance | X | 49116302 | 49116302 | Human | | name |
| 598274035 | CV3970921 | single nucleotide variant | NM_015698.6(GPKOW):c.665G>A (p.Arg222His) | not specified [RCV005351218] | likely benign | X | 49117712 | 49117712 | Human | | name |
| 598274037 | CV3970922 | single nucleotide variant | NM_015698.6(GPKOW):c.563A>G (p.Asn188Ser) | not specified [RCV005351219] | uncertain significance | X | 49119708 | 49119708 | Human | | name |
| 598274039 | CV3970923 | single nucleotide variant | NM_015698.6(GPKOW):c.820C>T (p.Arg274Cys) | not specified [RCV005351220] | uncertain significance | X | 49117123 | 49117123 | Human | | name |
| 598274043 | CV3970925 | single nucleotide variant | NM_015698.6(GPKOW):c.553C>T (p.Arg185Cys) | not specified [RCV005351222] | uncertain significance | X | 49119718 | 49119718 | Human | | name |
| 616935023 | CV4009248 | single nucleotide variant | NM_015698.6(GPKOW):c.763C>T (p.Arg255Ter) | not provided [RCV005402420] | uncertain significance | X | 49117614 | 49117614 | Human | | name |
| 15163700 | CV706255 | single nucleotide variant | NM_015698.6(GPKOW):c.863A>G (p.Tyr288Cys) | not provided [RCV000948152] | likely benign | X | 49117080 | 49117080 | Human | | name |
| 15161624 | CV729630 | single nucleotide variant | NM_015698.6(GPKOW):c.385G>A (p.Ala129Thr) | not provided [RCV000881604] | likely benign | X | 49122469 | 49122469 | Human | | name |
| 156233119 | CV2197098 | single nucleotide variant | NM_015698.6(GPKOW):c.1190A>C (p.Asp397Ala) | not specified [RCV004071531] | uncertain significance | X | 49115746 | 49115746 | Human | | name |
| 156182467 | CV2288255 | single nucleotide variant | NM_015698.6(GPKOW):c.1327C>T (p.Arg443Trp) | GPKOW-related disorder [RCV003946375]|not specified [RCV004149764] | likely benign|uncertain significance | X | 49113725 | 49113725 | Human | | name , trait , alternate_id |
| 156290445 | CV2296499 | single nucleotide variant | NM_015698.6(GPKOW):c.1088G>A (p.Arg363His) | not specified [RCV004154580] | uncertain significance | X | 49115943 | 49115943 | Human | | name |
| 329400025 | CV2440404 | single nucleotide variant | NM_015698.6(GPKOW):c.1184G>A (p.Arg395Gln) | not specified [RCV004256341] | uncertain significance | X | 49115752 | 49115752 | Human | | name |
| 329394423 | CV2461342 | single nucleotide variant | NM_015698.6(GPKOW):c.1083C>A (p.Asp361Glu) | not specified [RCV004267503] | uncertain significance | X | 49115948 | 49115948 | Human | | name |
| 401728277 | CV2676044 | single nucleotide variant | NM_015698.6(GPKOW):c.1172C>T (p.Thr391Ile) | not provided [RCV003436003]|not specified [RCV004282026] | likely benign|uncertain significance | X | 49115764 | 49115764 | Human | | name |
| 401927009 | CV2821698 | single nucleotide variant | NM_015698.6(GPKOW):c.1016G>A (p.Arg339Gln) | not provided [RCV003438283] | likely benign | X | 49116221 | 49116221 | Human | | name |
| 405291332 | CV3222320 | single nucleotide variant | NM_015698.6(GPKOW):c.1279G>C (p.Gly427Arg) | Holoprosencephaly-hypokinesia-congenital contractures syndrome [RCV003985202] | uncertain significance | X | 49113870 | 49113870 | Human | 1 | name |
| 405788585 | CV3255029 | single nucleotide variant | NM_015698.6(GPKOW):c.1012G>T (p.Asp338Tyr) | not specified [RCV004388177] | uncertain significance | X | 49116225 | 49116225 | Human | | name |
| 405788595 | CV3255031 | single nucleotide variant | NM_015698.6(GPKOW):c.1033G>C (p.Ala345Pro) | not specified [RCV004388179] | uncertain significance | X | 49115998 | 49115998 | Human | | name |
| 407525990 | CV3440022 | single nucleotide variant | NM_015698.6(GPKOW):c.1171A>G (p.Thr391Ala) | not specified [RCV004632294] | uncertain significance | X | 49115765 | 49115765 | Human | | name |
| 407525997 | CV3440024 | single nucleotide variant | NM_015698.6(GPKOW):c.1341G>C (p.Leu447Phe) | not specified [RCV004632296] | uncertain significance | X | 49113711 | 49113711 | Human | | name |
| 598274041 | CV3970924 | single nucleotide variant | NM_015698.6(GPKOW):c.1144A>G (p.Ile382Val) | not specified [RCV005351221] | uncertain significance | X | 49115792 | 49115792 | Human | | name |
| 598274046 | CV3970926 | single nucleotide variant | NM_015698.6(GPKOW):c.1282C>G (p.Pro428Ala) | not specified [RCV005351223] | uncertain significance | X | 49113867 | 49113867 | Human | | name |
| 616934999 | CV4009226 | single nucleotide variant | NM_015698.6(GPKOW):c.1244C>T (p.Pro415Leu) | not provided [RCV005402398] | uncertain significance | X | 49113905 | 49113905 | Human | | name |