| 407481805 | CV3461022 | single nucleotide variant | NM_006467.3(POLR3G):c.4G>T (p.Ala2Ser) | not specified [RCV004664679] | uncertain significance | 5 | 90485571 | 90485571 | Human | | name |
| 156256386 | CV2307796 | single nucleotide variant | NM_006467.3(POLR3G):c.25C>T (p.Arg9Cys) | not specified [RCV004168480] | uncertain significance | 5 | 90485592 | 90485592 | Human | | name |
| 598158542 | CV3900802 | single nucleotide variant | NM_006467.3(POLR3G):c.19A>G (p.Arg7Gly) | not specified [RCV005260491] | uncertain significance | 5 | 90485586 | 90485586 | Human | | name |
| 329366765 | CV2441874 | single nucleotide variant | NM_006467.3(POLR3G):c.58G>C (p.Gly20Arg) | not specified [RCV004262065] | uncertain significance | 5 | 90485625 | 90485625 | Human | | name |
| 407525137 | CV3461024 | single nucleotide variant | NM_006467.3(POLR3G):c.47T>A (p.Ile16Asn) | not specified [RCV004653951] | uncertain significance | 5 | 90485614 | 90485614 | Human | | name |
| 598158534 | CV3900805 | single nucleotide variant | NM_006467.3(POLR3G):c.87T>G (p.Asp29Glu) | not specified [RCV005260494] | uncertain significance | 5 | 90485654 | 90485654 | Human | | name |
| 329362330 | CV2444610 | single nucleotide variant | NM_006467.3(POLR3G):c.103C>A (p.Pro35Thr) | Autism [RCV003328497]|not specified [RCV004256831] | uncertain significance | 5 | 90485670 | 90485670 | Human | 2 | name |
| 407481811 | CV3461023 | single nucleotide variant | NM_006467.3(POLR3G):c.116C>T (p.Pro39Leu) | not specified [RCV004664680] | uncertain significance | 5 | 90485683 | 90485683 | Human | | name |
| 597778001 | CV3584063 | single nucleotide variant | NM_006467.3(POLR3G):c.280G>A (p.Val94Ile) | not specified [RCV004852890] | uncertain significance | 5 | 90495709 | 90495709 | Human | | name |
| 597778012 | CV3584066 | single nucleotide variant | NM_006467.3(POLR3G):c.137T>A (p.Val46Glu) | not specified [RCV004852893] | uncertain significance | 5 | 90488019 | 90488019 | Human | | name |
| 156301034 | CV2245022 | single nucleotide variant | NM_006467.3(POLR3G):c.389G>A (p.Gly130Asp) | not specified [RCV004104749] | uncertain significance | 5 | 90501939 | 90501939 | Human | | name |
| 156195209 | CV2251824 | single nucleotide variant | NM_006467.3(POLR3G):c.634G>A (p.Ala212Thr) | not specified [RCV004119813] | uncertain significance | 5 | 90512101 | 90512101 | Human | | name |
| 156164116 | CV2389659 | single nucleotide variant | NM_006467.3(POLR3G):c.385G>A (p.Ala129Thr) | not specified [RCV004243713] | likely benign | 5 | 90501935 | 90501935 | Human | | name |
| 329355916 | CV2442394 | single nucleotide variant | NM_006467.3(POLR3G):c.367C>T (p.Pro123Ser) | not specified [RCV004266645] | likely benign | 5 | 90501917 | 90501917 | Human | | name |
| 329360196 | CV2446636 | single nucleotide variant | NM_006467.3(POLR3G):c.314G>T (p.Arg105Ile) | not specified [RCV004251524] | uncertain significance | 5 | 90497665 | 90497665 | Human | | name |
| 329397631 | CV2456423 | single nucleotide variant | NM_006467.3(POLR3G):c.520G>A (p.Gly174Ser) | not specified [RCV004275580] | uncertain significance | 5 | 90506609 | 90506609 | Human | | name |
| 405667522 | CV3373629 | single nucleotide variant | NM_006467.3(POLR3G):c.571G>A (p.Glu191Lys) | not specified [RCV004514468] | uncertain significance | 5 | 90506660 | 90506660 | Human | | name |
| 597778005 | CV3584064 | single nucleotide variant | NM_006467.3(POLR3G):c.338G>T (p.Arg113Ile) | not specified [RCV004852891] | uncertain significance | 5 | 90497689 | 90497689 | Human | | name |
| 598158538 | CV3900803 | single nucleotide variant | NM_006467.3(POLR3G):c.612T>G (p.Phe204Leu) | not specified [RCV005260492] | uncertain significance | 5 | 90512079 | 90512079 | Human | | name |
| 598158536 | CV3900804 | single nucleotide variant | NM_006467.3(POLR3G):c.668A>G (p.Tyr223Cys) | not specified [RCV005260493] | uncertain significance | 5 | 90512135 | 90512135 | Human | | name |
| 14399867 | CV609036 | single nucleotide variant | NM_032305.3(POLR3GL):c.326-1G>A | Short stature [RCV000766135]|Short stature, oligodontia, dysmorphic facies, and motor delay [RCV001328377] | pathogenic|likely pathogenic | 1 | 145977482 | 145977482 | Human | 6 | name |
| 14399868 | CV609079 | single nucleotide variant | NM_032305.3(POLR3GL):c.-41-1G>A | POLR3GL-related disorder [RCV003411691]|Short stature [RCV000766136]|Short stature, oligodontia, dysmorphic facies, and motor delay [RCV001328379] | pathogenic|likely pathogenic | 1 | 145974824 | 145974824 | Human | 8 | name , trait , alternate_id |
| 126746177 | CV1015389 | single nucleotide variant | NM_032305.3(POLR3GL):c.358C>T (p.Arg120Ter) | POLR3GL-related disorder [RCV003399112]|Short stature, oligodontia, dysmorphic facies, and motor delay [RCV001328381] | pathogenic | 1 | 145977515 | 145977515 | Human | 1 | name , trait , alternate_id |
| 401964248 | CV2843581 | single nucleotide variant | NM_032305.3(POLR3GL):c.2T>C (p.Met1Thr) | not specified [RCV003479924] | uncertain significance | 1 | 145974867 | 145974867 | Human | | name |
| 401928380 | CV2809187 | single nucleotide variant | NM_032305.3(POLR3GL):c.282T>C (p.Tyr94=) | not provided [RCV003406785] | likely benign | 1 | 145977109 | 145977109 | Human | | name |
| 405667532 | CV3373631 | single nucleotide variant | NM_032305.3(POLR3GL):c.26G>A (p.Gly9Asp) | not specified [RCV004514470] | uncertain significance | 1 | 145974891 | 145974891 | Human | | name |
| 401723655 | CV2675031 | single nucleotide variant | NM_032305.3(POLR3GL):c.35G>A (p.Arg12Gln) | not specified [RCV004296332] | uncertain significance | 1 | 145974900 | 145974900 | Human | | name |
| 401928378 | CV2809186 | single nucleotide variant | NM_032305.3(POLR3GL):c.549T>C (p.Tyr183=) | not provided [RCV003406784] | likely benign | 1 | 145978075 | 145978075 | Human | | name |
| 156040013 | CV2219434 | single nucleotide variant | NM_032305.3(POLR3GL):c.236G>A (p.Arg79Gln) | not specified [RCV004095224] | uncertain significance | 1 | 145975416 | 145975416 | Human | | name |
| 156293497 | CV2243433 | single nucleotide variant | NM_032305.3(POLR3GL):c.235C>T (p.Arg79Trp) | not specified [RCV004112404] | uncertain significance | 1 | 145975415 | 145975415 | Human | | name |
| 405667527 | CV3373630 | single nucleotide variant | NM_032305.3(POLR3GL):c.266G>A (p.Arg89His) | not specified [RCV004514469] | uncertain significance | 1 | 145977093 | 145977093 | Human | | name |
| 597778023 | CV3584069 | single nucleotide variant | NM_032305.3(POLR3GL):c.203G>C (p.Arg68Pro) | not specified [RCV004852896] | uncertain significance | 1 | 145975383 | 145975383 | Human | | name |
| 156094112 | CV2300277 | single nucleotide variant | NM_032305.3(POLR3GL):c.472G>A (p.Glu158Lys) | not specified [RCV004153235] | uncertain significance | 1 | 145977998 | 145977998 | Human | | name |
| 156299908 | CV2326189 | single nucleotide variant | NM_032305.3(POLR3GL):c.602A>G (p.Asn201Ser) | not specified [RCV004180457] | uncertain significance | 1 | 145978392 | 145978392 | Human | | name |
| 156285878 | CV2345619 | single nucleotide variant | NM_032305.3(POLR3GL):c.504G>C (p.Glu168Asp) | not specified [RCV004205568] | uncertain significance | 1 | 145978030 | 145978030 | Human | | name |
| 329367144 | CV2442130 | single nucleotide variant | NM_032305.3(POLR3GL):c.310A>C (p.Ile104Leu) | not specified [RCV004264323] | uncertain significance | 1 | 145977137 | 145977137 | Human | | name |
| 401750863 | CV2712222 | single nucleotide variant | NM_032305.3(POLR3GL):c.500A>G (p.Glu167Gly) | not specified [RCV004313724] | uncertain significance | 1 | 145978026 | 145978026 | Human | | name |
| 401782174 | CV2719212 | single nucleotide variant | NM_032305.3(POLR3GL):c.334C>T (p.Arg112Cys) | not specified [RCV004324866] | uncertain significance | 1 | 145977491 | 145977491 | Human | | name |
| 401893516 | CV2756506 | single nucleotide variant | NM_032305.3(POLR3GL):c.344G>A (p.Arg115Gln) | not specified [RCV004345039] | uncertain significance | 1 | 145977501 | 145977501 | Human | | name |
| 405667536 | CV3373632 | single nucleotide variant | NM_032305.3(POLR3GL):c.332G>A (p.Arg111Gln) | not specified [RCV004514471] | uncertain significance | 1 | 145977489 | 145977489 | Human | | name |
| 405667540 | CV3373633 | single nucleotide variant | NM_032305.3(POLR3GL):c.365G>A (p.Arg122Gln) | not specified [RCV004514472] | uncertain significance | 1 | 145977522 | 145977522 | Human | | name |
| 407481826 | CV3461026 | single nucleotide variant | NM_032305.3(POLR3GL):c.520G>A (p.Glu174Lys) | not specified [RCV004664682] | uncertain significance | 1 | 145978046 | 145978046 | Human | | name |
| 407525139 | CV3461027 | single nucleotide variant | NM_032305.3(POLR3GL):c.433G>A (p.Glu145Lys) | not specified [RCV004653952] | uncertain significance | 1 | 145977828 | 145977828 | Human | | name |
| 597778016 | CV3584067 | single nucleotide variant | NM_032305.3(POLR3GL):c.429T>A (p.Asp143Glu) | not specified [RCV004852894] | uncertain significance | 1 | 145977824 | 145977824 | Human | | name |
| 597778019 | CV3584068 | single nucleotide variant | NM_032305.3(POLR3GL):c.310A>G (p.Ile104Val) | not specified [RCV004852895] | uncertain significance | 1 | 145977137 | 145977137 | Human | | name |
| 598158531 | CV3900806 | single nucleotide variant | NM_032305.3(POLR3GL):c.622G>T (p.Asp208Tyr) | not specified [RCV005260495] | uncertain significance | 1 | 145978412 | 145978412 | Human | | name |
