| 127305358 | CV1154848 | single nucleotide variant | NM_152542.5(PPM1K):c.707+7C>T | Maple syrup urine disease, mild variant [RCV001516251] | benign | 4 | 88268734 | 88268734 | Human | 1 | name |
| 152145862 | CV1564231 | deletion | NM_152542.5(PPM1K):c.441-7del | Maple syrup urine disease, mild variant [RCV002138795] | benign | 4 | 88277250 | 88277250 | Human | 1 | name |
| 152133614 | CV1651976 | single nucleotide variant | NM_152542.5(PPM1K):c.987+9G>C | Maple syrup urine disease, mild variant [RCV002199652] | likely benign | 4 | 88264992 | 88264992 | Human | 1 | name |
| 156018784 | CV2020648 | single nucleotide variant | NM_152542.5(PPM1K):c.542-9T>C | Maple syrup urine disease, mild variant [RCV002735275] | likely benign | 4 | 88268915 | 88268915 | Human | 1 | name |
| 405249041 | CV3180154 | single nucleotide variant | NM_152542.5(PPM1K):c.853-9T>G | Maple syrup urine disease, mild variant [RCV003869614] | uncertain significance | 4 | 88265144 | 88265144 | Human | 1 | name |
| 14712931 | CV651224 | single nucleotide variant | NM_152542.5(PPM1K):c.988-7C>G | Maple syrup urine disease, mild variant [RCV000822352] | uncertain significance | 4 | 88262733 | 88262733 | Human | 1 | name |
| 14709294 | CV651281 | single nucleotide variant | NM_152542.5(PPM1K):c.542-3T>C | Maple syrup urine disease, mild variant [RCV000811537]|PPM1K-related disorder [RCV003928281] | likely benign|uncertain significance | 4 | 88268909 | 88268909 | Human | 1 | name , trait , alternate_id |
| 15167825 | CV744179 | single nucleotide variant | NM_152542.5(PPM1K):c.708-5A>G | Maple syrup urine disease, mild variant [RCV000904728]|PPM1K-related disorder [RCV003932890] | likely benign | 4 | 88268339 | 88268339 | Human | 1 | name , trait , alternate_id |
| 15193619 | CV774944 | single nucleotide variant | NM_152542.5(PPM1K):c.987+9G>A | not provided [RCV000933413] | likely benign | 4 | 88264992 | 88264992 | Human | | name |
| 156220054 | CV1879195 | single nucleotide variant | NM_152542.5(PPM1K):c.707+15G>A | Maple syrup urine disease, mild variant [RCV003058896] | likely benign | 4 | 88268726 | 88268726 | Human | 1 | name |
| 156018251 | CV1885444 | single nucleotide variant | NM_152542.5(PPM1K):c.852+14T>C | Maple syrup urine disease, mild variant [RCV003077483] | likely benign | 4 | 88268176 | 88268176 | Human | 1 | name |
| 405055243 | CV2941406 | single nucleotide variant | NM_152542.5(PPM1K):c.988-15T>A | Maple syrup urine disease, mild variant [RCV003655490] | uncertain significance | 4 | 88262741 | 88262741 | Human | 1 | name |
| 597959654 | CV3811431 | single nucleotide variant | NM_152542.5(PPM1K):c.988-16C>T | Maple syrup urine disease, mild variant [RCV005163277] | likely benign | 4 | 88262742 | 88262742 | Human | 1 | name |
| 597864586 | CV3823185 | single nucleotide variant | NM_152542.5(PPM1K):c.988-10A>C | Maple syrup urine disease, mild variant [RCV005175535] | likely benign | 4 | 88262736 | 88262736 | Human | 1 | name |
| 597931689 | CV3862410 | deletion | NM_152542.5(PPM1K):c.441-14del | Maple syrup urine disease, mild variant [RCV005206655] | benign | 4 | 88277257 | 88277257 | Human | 1 | name |
| 127312030 | CV1154846 | single nucleotide variant | NM_152542.5(PPM1K):c.708-116C>T | Maple syrup urine disease, mild variant [RCV001518818] | benign | 4 | 88268450 | 88268450 | Human | 1 | name |
| 127311162 | CV1154847 | single nucleotide variant | NM_152542.5(PPM1K):c.708-169G>A | Maple syrup urine disease, mild variant [RCV001518518] | benign | 4 | 88268503 | 88268503 | Human | 1 | name |
| 127324406 | CV1136029 | single nucleotide variant | NM_152542.5(PPM1K):c.54A>G (p.Arg18=) | Maple syrup urine disease, mild variant [RCV001505661] | likely benign | 4 | 88278530 | 88278530 | Human | 1 | name |
| 151720917 | CV1506800 | single nucleotide variant | NM_152542.5(PPM1K):c.66G>A (p.Leu22=) | Maple syrup urine disease, mild variant [RCV001909711] | likely benign | 4 | 88278518 | 88278518 | Human | 1 | name |
| 405051048 | CV3068547 | single nucleotide variant | NM_152542.5(PPM1K):c.90C>T (p.Asp30=) | Maple syrup urine disease, mild variant [RCV003654740] | likely benign | 4 | 88278494 | 88278494 | Human | 1 | name |
| 405852277 | CV3395870 | single nucleotide variant | NM_152542.5(PPM1K):c.1A>G (p.Met1Val) | Maple syrup urine disease, mild variant [RCV004556889] | pathogenic | 4 | 88278583 | 88278583 | Human | 1 | name |
| 597863916 | CV3823073 | deletion | NM_152542.5(PPM1K):c.542-15_542-14del | Maple syrup urine disease, mild variant [RCV005175423] | likely benign | 4 | 88268920 | 88268921 | Human | 1 | name |
| 127319269 | CV1136028 | single nucleotide variant | NM_152542.5(PPM1K):c.174A>G (p.Pro58=) | Maple syrup urine disease, mild variant [RCV001503971] | likely benign | 4 | 88278410 | 88278410 | Human | 1 | name |
| 127301428 | CV1154849 | single nucleotide variant | NM_152542.5(PPM1K):c.294C>T (p.Ala98=) | Maple syrup urine disease, mild variant [RCV001514666] | benign | 4 | 88278290 | 88278290 | Human | 1 | name |
| 597874067 | CV3836285 | single nucleotide variant | NM_152542.5(PPM1K):c.291C>T (p.Cys97=) | Maple syrup urine disease, mild variant [RCV005177082] | likely benign | 4 | 88278293 | 88278293 | Human | 1 | name |
| 126746897 | CV1026030 | single nucleotide variant | NM_152542.5(PPM1K):c.77G>A (p.Arg26His) | Maple syrup urine disease, mild variant [RCV001351591] | uncertain significance | 4 | 88278507 | 88278507 | Human | 1 | name |
| 126914345 | CV1042971 | single nucleotide variant | NM_152542.5(PPM1K):c.47A>C (p.Gln16Pro) | Maple syrup urine disease, mild variant [RCV001359504] | uncertain significance | 4 | 88278537 | 88278537 | Human | 1 | name |
| 127316261 | CV1136027 | single nucleotide variant | NM_152542.5(PPM1K):c.582A>G (p.Leu194=) | Maple syrup urine disease, mild variant [RCV001502969] | likely benign | 4 | 88268866 | 88268866 | Human | 1 | name |
| 151889421 | CV1435956 | single nucleotide variant | NM_152542.5(PPM1K):c.48G>T (p.Gln16His) | Maple syrup urine disease, mild variant [RCV001963427]|not specified [RCV004044517] | uncertain significance | 4 | 88278536 | 88278536 | Human | 1 | name |
| 152075780 | CV1653232 | single nucleotide variant | NM_152542.5(PPM1K):c.600A>G (p.Glu200=) | Maple syrup urine disease, mild variant [RCV002075713] | likely benign | 4 | 88268848 | 88268848 | Human | 1 | name |
| 152070089 | CV1660838 | single nucleotide variant | NM_152542.5(PPM1K):c.960C>T (p.Asn320=) | Maple syrup urine disease, mild variant [RCV002129498] | likely benign | 4 | 88265028 | 88265028 | Human | 1 | name |
| 156351838 | CV1926813 | single nucleotide variant | NM_152542.5(PPM1K):c.387C>T (p.His129=) | Maple syrup urine disease, mild variant [RCV002650951] | likely benign | 4 | 88278197 | 88278197 | Human | 1 | name |
| 156221437 | CV2067909 | single nucleotide variant | NM_152542.5(PPM1K):c.888C>T (p.Thr296=) | Maple syrup urine disease, mild variant [RCV002829699] | likely benign | 4 | 88265100 | 88265100 | Human | 1 | name |
| 156211737 | CV2142009 | single nucleotide variant | NM_152542.5(PPM1K):c.702A>G (p.Lys234=) | Maple syrup urine disease, mild variant [RCV002985619] | likely benign | 4 | 88268746 | 88268746 | Human | 1 | name |
| 155914371 | CV2145249 | single nucleotide variant | NM_152542.5(PPM1K):c.510C>T (p.Ala170=) | Maple syrup urine disease, mild variant [RCV002991560] | likely benign | 4 | 88277174 | 88277174 | Human | 1 | name |
| 155989428 | CV2160033 | single nucleotide variant | NM_152542.5(PPM1K):c.621G>A (p.Gly207=) | Maple syrup urine disease, mild variant [RCV003034259] | likely benign | 4 | 88268827 | 88268827 | Human | 1 | name |
| 156244279 | CV2267343 | single nucleotide variant | NM_152542.5(PPM1K):c.61G>A (p.Val21Met) | not specified [RCV004134004] | uncertain significance | 4 | 88278523 | 88278523 | Human | | name |
| 405163537 | CV2907977 | single nucleotide variant | NM_152542.5(PPM1K):c.97C>T (p.Arg33Trp) | Maple syrup urine disease, mild variant [RCV003540247] | uncertain significance | 4 | 88278487 | 88278487 | Human | 1 | name |
| 405061599 | CV3009715 | single nucleotide variant | NM_152542.5(PPM1K):c.690A>G (p.Arg230=) | Maple syrup urine disease, mild variant [RCV003655987] | likely benign | 4 | 88268758 | 88268758 | Human | 1 | name |
| 405050281 | CV3054257 | single nucleotide variant | NM_152542.5(PPM1K):c.300G>A (p.Gln100=) | Maple syrup urine disease, mild variant [RCV003654611] | likely benign | 4 | 88278284 | 88278284 | Human | 1 | name |
| 405206172 | CV3144214 | single nucleotide variant | NM_152542.5(PPM1K):c.453T>C (p.Pro151=) | Maple syrup urine disease, mild variant [RCV003845004] | likely benign | 4 | 88277231 | 88277231 | Human | 1 | name |
| 405165181 | CV3149399 | single nucleotide variant | NM_152542.5(PPM1K):c.726T>G (p.Gly242=) | Maple syrup urine disease, mild variant [RCV003841061] | likely benign | 4 | 88268316 | 88268316 | Human | 1 | name |
| 405280495 | CV3195549 | single nucleotide variant | NM_152542.5(PPM1K):c.580C>T (p.Leu194=) | PPM1K-related disorder [RCV003906794] | likely benign | 4 | 88268868 | 88268868 | Human | | name , trait , alternate_id |
| 405291799 | CV3206101 | single nucleotide variant | NM_152542.5(PPM1K):c.390T>C (p.Gly130=) | PPM1K-related disorder [RCV003964180] | likely benign | 4 | 88278194 | 88278194 | Human | | name , trait , alternate_id |
| 405283911 | CV3213363 | single nucleotide variant | NM_152542.5(PPM1K):c.975G>A (p.Ala325=) | PPM1K-related disorder [RCV003921952] | likely benign | 4 | 88265013 | 88265013 | Human | | name , trait , alternate_id |
| 597973503 | CV3801178 | single nucleotide variant | NM_152542.5(PPM1K):c.804C>T (p.Asp268=) | Maple syrup urine disease, mild variant [RCV005143373] | likely benign | 4 | 88268238 | 88268238 | Human | 1 | name |
| 13488241 | CV453594 | single nucleotide variant | NM_152542.5(PPM1K):c.978G>A (p.Val326=) | Maple syrup urine disease, mild variant [RCV000554700]|PPM1K-related disorder [RCV003980011]|not provided [RCV004716558] | benign | 4 | 88265010 | 88265010 | Human | 1 | name , trait , alternate_id |
| 13483306 | CV454373 | single nucleotide variant | NM_152542.5(PPM1K):c.339C>T (p.Phe113=) | Maple syrup urine disease, mild variant [RCV000529801]|not provided [RCV004717661] | benign | 4 | 88278245 | 88278245 | Human | 1 | name |
| 15186486 | CV721111 | single nucleotide variant | NM_152542.5(PPM1K):c.459G>A (p.Glu153=) | not provided [RCV000886989] | likely benign | 4 | 88277225 | 88277225 | Human | | name |
| 15200134 | CV764640 | single nucleotide variant | NM_152542.5(PPM1K):c.525C>T (p.Ala175=) | Maple syrup urine disease, mild variant [RCV001478663] | likely benign | 4 | 88277159 | 88277159 | Human | 1 | name |
| 15105766 | CV782050 | single nucleotide variant | NM_152542.5(PPM1K):c.759C>T (p.His253=) | Maple syrup urine disease, mild variant [RCV002066458] | likely benign | 4 | 88268283 | 88268283 | Human | 1 | name |
| 15100167 | CV782051 | single nucleotide variant | NM_152542.5(PPM1K):c.657C>T (p.Pro219=) | PPM1K-related disorder [RCV003953351]|not provided [RCV000975372] | likely benign | 4 | 88268791 | 88268791 | Human | 1 | name , trait , alternate_id |
| 151838177 | CV1382715 | single nucleotide variant | NM_152542.5(PPM1K):c.118A>C (p.Ser40Arg) | Maple syrup urine disease, mild variant [RCV002031509] | uncertain significance | 4 | 88278466 | 88278466 | Human | 1 | name |
| 151735536 | CV1440709 | single nucleotide variant | NM_152542.5(PPM1K):c.145C>T (p.Arg49Trp) | Maple syrup urine disease, mild variant [RCV001911351]|not provided [RCV004693912] | uncertain significance | 4 | 88278439 | 88278439 | Human | 1 | name |
| 151781771 | CV1486758 | single nucleotide variant | NM_152542.5(PPM1K):c.110C>T (p.Thr37Met) | Maple syrup urine disease, mild variant [RCV001915945] | uncertain significance | 4 | 88278474 | 88278474 | Human | 1 | name |
| 152146303 | CV1543399 | single nucleotide variant | NM_152542.5(PPM1K):c.1080A>G (p.Ser360=) | Maple syrup urine disease, mild variant [RCV002178773] | likely benign | 4 | 88262634 | 88262634 | Human | 1 | name |
| 156303273 | CV1933626 | single nucleotide variant | NM_152542.5(PPM1K):c.259A>G (p.Ile87Val) | Maple syrup urine disease, mild variant [RCV002629359]|not specified [RCV004661596] | uncertain significance | 4 | 88278325 | 88278325 | Human | 1 | name |
| 156117192 | CV2035643 | single nucleotide variant | NM_152542.5(PPM1K):c.188A>G (p.Asn63Ser) | Maple syrup urine disease, mild variant [RCV002785640] | uncertain significance | 4 | 88278396 | 88278396 | Human | 1 | name |
| 156088389 | CV2096502 | single nucleotide variant | NM_152542.5(PPM1K):c.292G>A (p.Ala98Thr) | Maple syrup urine disease, mild variant [RCV002926584]|not specified [RCV005264288] | uncertain significance | 4 | 88278292 | 88278292 | Human | 1 | name |
| 156050205 | CV2319361 | single nucleotide variant | NM_152542.5(PPM1K):c.227T>C (p.Leu76Pro) | not specified [RCV004180182] | uncertain significance | 4 | 88278357 | 88278357 | Human | | name |
| 401779146 | CV2702305 | single nucleotide variant | NM_152542.5(PPM1K):c.236C>T (p.Pro79Leu) | not specified [RCV004314633] | uncertain significance | 4 | 88278348 | 88278348 | Human | | name |
| 401717935 | CV2728375 | single nucleotide variant | NM_152542.5(PPM1K):c.232C>T (p.Pro78Ser) | not specified [RCV004333414] | uncertain significance | 4 | 88278352 | 88278352 | Human | | name |
| 405158523 | CV2868907 | single nucleotide variant | NM_152542.5(PPM1K):c.209G>A (p.Arg70His) | Maple syrup urine disease, mild variant [RCV003539666] | uncertain significance | 4 | 88278375 | 88278375 | Human | 1 | name |
| 405057585 | CV2965921 | single nucleotide variant | NM_152542.5(PPM1K):c.235C>A (p.Pro79Thr) | Maple syrup urine disease, mild variant [RCV003655691] | uncertain significance | 4 | 88278349 | 88278349 | Human | 1 | name |
| 405051964 | CV3072905 | single nucleotide variant | NM_152542.5(PPM1K):c.248A>T (p.Tyr83Phe) | Maple syrup urine disease, mild variant [RCV003654812] | uncertain significance | 4 | 88278336 | 88278336 | Human | 1 | name |
| 405088758 | CV3167746 | single nucleotide variant | NM_152542.5(PPM1K):c.155C>T (p.Pro52Leu) | Maple syrup urine disease, mild variant [RCV003852136] | uncertain significance | 4 | 88278429 | 88278429 | Human | 1 | name |
| 597758345 | CV3591368 | single nucleotide variant | NM_152542.5(PPM1K):c.146G>A (p.Arg49Gln) | not specified [RCV004848514] | uncertain significance | 4 | 88278438 | 88278438 | Human | | name |
| 597931327 | CV3789457 | single nucleotide variant | NM_152542.5(PPM1K):c.160G>C (p.Gly54Arg) | Maple syrup urine disease, mild variant [RCV005131738] | uncertain significance | 4 | 88278424 | 88278424 | Human | 1 | name |
| 126753746 | CV990310 | single nucleotide variant | NM_152542.5(PPM1K):c.208C>T (p.Arg70Cys) | Maple syrup urine disease, mild variant [RCV001297965] | uncertain significance | 4 | 88278376 | 88278376 | Human | 1 | name |
| 126764009 | CV1026029 | single nucleotide variant | NM_152542.5(PPM1K):c.587G>A (p.Arg196Gln) | Maple syrup urine disease, mild variant [RCV001341495] | uncertain significance | 4 | 88268861 | 88268861 | Human | 1 | name |
| 126909784 | CV1037529 | single nucleotide variant | NM_152542.5(PPM1K):c.469G>A (p.Glu157Lys) | not provided [RCV001354071] | uncertain significance | 4 | 88277215 | 88277215 | Human | | name |
| 127243753 | CV1071955 | single nucleotide variant | NM_152542.5(PPM1K):c.858T>G (p.His286Gln) | Maple syrup urine disease, mild variant [RCV001398456]|not provided [RCV004711583] | likely benign | 4 | 88265130 | 88265130 | Human | 1 | name |
| 151782901 | CV1364508 | single nucleotide variant | NM_152542.5(PPM1K):c.527G>A (p.Arg176His) | Maple syrup urine disease, mild variant [RCV002009907] | uncertain significance | 4 | 88277157 | 88277157 | Human | 1 | name |
| 151832435 | CV1370315 | single nucleotide variant | NM_152542.5(PPM1K):c.973G>A (p.Ala325Thr) | Maple syrup urine disease, mild variant [RCV001993842] | uncertain significance | 4 | 88265015 | 88265015 | Human | 1 | name |
| 151794945 | CV1395144 | single nucleotide variant | NM_152542.5(PPM1K):c.595A>G (p.Ile199Val) | Maple syrup urine disease, mild variant [RCV001973391] | uncertain significance | 4 | 88268853 | 88268853 | Human | 1 | name |
| 151879370 | CV1395576 | single nucleotide variant | NM_152542.5(PPM1K):c.670A>G (p.Ile224Val) | Maple syrup urine disease, mild variant [RCV001999334]|not specified [RCV004847884] | uncertain significance | 4 | 88268778 | 88268778 | Human | 1 | name |
| 151795449 | CV1421241 | single nucleotide variant | NM_152542.5(PPM1K):c.730G>A (p.Val244Ile) | Maple syrup urine disease, mild variant [RCV001917213] | uncertain significance | 4 | 88268312 | 88268312 | Human | 1 | name |
| 151817085 | CV1441107 | single nucleotide variant | NM_152542.5(PPM1K):c.554C>A (p.Thr185Asn) | Maple syrup urine disease, mild variant [RCV001933779]|not provided [RCV004693989] | uncertain significance | 4 | 88268894 | 88268894 | Human | 1 | name |
| 151757086 | CV1443474 | single nucleotide variant | NM_152542.5(PPM1K):c.601C>G (p.Leu201Val) | Maple syrup urine disease, mild variant [RCV001872828] | uncertain significance | 4 | 88268847 | 88268847 | Human | 1 | name |
| 151797306 | CV1467667 | single nucleotide variant | NM_152542.5(PPM1K):c.526C>G (p.Arg176Gly) | Maple syrup urine disease, mild variant [RCV001952595] | uncertain significance | 4 | 88277158 | 88277158 | Human | 1 | name |
| 155947918 | CV1872502 | single nucleotide variant | NM_152542.5(PPM1K):c.308A>G (p.Lys103Arg) | Maple syrup urine disease, mild variant [RCV003073968]|not specified [RCV004070247] | uncertain significance | 4 | 88278276 | 88278276 | Human | 1 | name |
| 156240413 | CV1882410 | single nucleotide variant | NM_152542.5(PPM1K):c.760G>A (p.Val254Ile) | Maple syrup urine disease, mild variant [RCV003085720] | uncertain significance | 4 | 88268282 | 88268282 | Human | 1 | name |
| 155988327 | CV1884202 | single nucleotide variant | NM_152542.5(PPM1K):c.515C>T (p.Ser172Leu) | Maple syrup urine disease, mild variant [RCV003075994]|not provided [RCV004695302] | uncertain significance | 4 | 88277169 | 88277169 | Human | 1 | name |
| 156209762 | CV1932408 | single nucleotide variant | NM_152542.5(PPM1K):c.757C>T (p.His253Tyr) | Maple syrup urine disease, mild variant [RCV002643949] | uncertain significance | 4 | 88268285 | 88268285 | Human | 1 | name |
| 156118539 | CV2150713 | single nucleotide variant | NM_152542.5(PPM1K):c.647A>G (p.Lys216Arg) | Maple syrup urine disease, mild variant [RCV003021703] | uncertain significance | 4 | 88268801 | 88268801 | Human | 1 | name |
| 156181452 | CV2167570 | single nucleotide variant | NM_152542.5(PPM1K):c.542C>T (p.Ala181Val) | Maple syrup urine disease, mild variant [RCV003023839] | uncertain significance | 4 | 88268906 | 88268906 | Human | 1 | name |
| 155922297 | CV2218829 | single nucleotide variant | NM_152542.5(PPM1K):c.776C>T (p.Ala259Val) | not specified [RCV004085072] | uncertain significance | 4 | 88268266 | 88268266 | Human | | name |
| 156040243 | CV2261277 | single nucleotide variant | NM_152542.5(PPM1K):c.499A>G (p.Ile167Val) | not specified [RCV004128145] | uncertain significance | 4 | 88277185 | 88277185 | Human | | name |
| 155949164 | CV2267584 | single nucleotide variant | NM_152542.5(PPM1K):c.436A>G (p.Ile146Val) | not specified [RCV004134147] | uncertain significance | 4 | 88278148 | 88278148 | Human | | name |
| 155958777 | CV2278365 | single nucleotide variant | NM_152542.5(PPM1K):c.838A>T (p.Thr280Ser) | not specified [RCV004132827] | uncertain significance | 4 | 88268204 | 88268204 | Human | | name |
| 156010281 | CV2290994 | single nucleotide variant | NM_152542.5(PPM1K):c.782C>A (p.Thr261Lys) | not specified [RCV004151544] | uncertain significance | 4 | 88268260 | 88268260 | Human | | name |
| 156050968 | CV2336630 | single nucleotide variant | NM_152542.5(PPM1K):c.641G>A (p.Cys214Tyr) | not specified [RCV004196875] | uncertain significance | 4 | 88268807 | 88268807 | Human | | name |
| 329354002 | CV2436760 | single nucleotide variant | NM_152542.5(PPM1K):c.395C>G (p.Pro132Arg) | not specified [RCV004260170] | uncertain significance | 4 | 88278189 | 88278189 | Human | | name |
| 401886270 | CV2771134 | single nucleotide variant | NM_152542.5(PPM1K):c.328C>T (p.Arg110Trp) | Maple syrup urine disease, mild variant [RCV003539488]|not specified [RCV004346133] | uncertain significance | 4 | 88278256 | 88278256 | Human | 1 | name |
| 405159427 | CV2884893 | single nucleotide variant | NM_152542.5(PPM1K):c.592G>T (p.Gly198Cys) | Maple syrup urine disease, mild variant [RCV003539736] | uncertain significance | 4 | 88268856 | 88268856 | Human | 1 | name |
| 405054317 | CV2943064 | single nucleotide variant | NM_152542.5(PPM1K):c.925A>G (p.Ile309Val) | Maple syrup urine disease, mild variant [RCV003655435] | uncertain significance | 4 | 88265063 | 88265063 | Human | 1 | name |
| 405057132 | CV2973857 | single nucleotide variant | NM_152542.5(PPM1K):c.917G>C (p.Ser306Thr) | Maple syrup urine disease, mild variant [RCV003655632] | uncertain significance | 4 | 88265071 | 88265071 | Human | 1 | name |
| 405048576 | CV3040071 | single nucleotide variant | NM_152542.5(PPM1K):c.680C>T (p.Thr227Ile) | Maple syrup urine disease, mild variant [RCV003654561] | uncertain significance | 4 | 88268768 | 88268768 | Human | 1 | name |
| 405051535 | CV3069427 | single nucleotide variant | NM_152542.5(PPM1K):c.352G>C (p.Asp118His) | Maple syrup urine disease, mild variant [RCV003654779]|not specified [RCV004374229] | uncertain significance | 4 | 88278232 | 88278232 | Human | 1 | name |
| 405794932 | CV3366504 | single nucleotide variant | NM_152542.5(PPM1K):c.760G>C (p.Val254Leu) | not specified [RCV004507206] | uncertain significance | 4 | 88268282 | 88268282 | Human | | name |
| 407529710 | CV3471512 | single nucleotide variant | NM_152542.5(PPM1K):c.614G>A (p.Ser205Asn) | not specified [RCV004656177] | uncertain significance | 4 | 88268834 | 88268834 | Human | | name |
| 407529713 | CV3471513 | single nucleotide variant | NM_152542.5(PPM1K):c.696T>G (p.Asp232Glu) | not specified [RCV004656178] | uncertain significance | 4 | 88268752 | 88268752 | Human | | name |
| 597849542 | CV3746711 | single nucleotide variant | NM_152542.5(PPM1K):c.946T>C (p.Cys316Arg) | Maple syrup urine disease, mild variant [RCV005066108] | uncertain significance | 4 | 88265042 | 88265042 | Human | 1 | name |
| 597924122 | CV3772514 | single nucleotide variant | NM_152542.5(PPM1K):c.790A>G (p.Ile264Val) | Maple syrup urine disease, mild variant [RCV005115664] | uncertain significance | 4 | 88268252 | 88268252 | Human | 1 | name |
| 598168954 | CV3897493 | single nucleotide variant | NM_152542.5(PPM1K):c.304G>A (p.Gly102Ser) | not specified [RCV005262705] | uncertain significance | 4 | 88278280 | 88278280 | Human | | name |
| 13464728 | CV454044 | single nucleotide variant | NM_152542.5(PPM1K):c.481A>G (p.Thr161Ala) | Maple syrup urine disease, mild variant [RCV000542380] | benign | 4 | 88277203 | 88277203 | Human | 1 | name |
| 13813490 | CV562287 | single nucleotide variant | NM_152542.5(PPM1K):c.509C>A (p.Ala170Asp) | Maple syrup urine disease, mild variant [RCV000704397] | uncertain significance | 4 | 88277175 | 88277175 | Human | 1 | name |
| 15196596 | CV698678 | single nucleotide variant | NM_152542.5(PPM1K):c.961G>A (p.Glu321Lys) | Maple syrup urine disease, mild variant [RCV000956233]|not provided [RCV004716642] | benign | 4 | 88265027 | 88265027 | Human | 1 | name |
| 15182913 | CV709506 | single nucleotide variant | NM_152542.5(PPM1K):c.629G>A (p.Arg210Gln) | Maple syrup urine disease, mild variant [RCV000974751]|PPM1K-related disorder [RCV003918571]|not provided [RCV004711484] | likely benign | 4 | 88268819 | 88268819 | Human | 1 | name , trait , alternate_id |
| 26922937 | CV829520 | single nucleotide variant | NM_152542.5(PPM1K):c.971A>G (p.His324Arg) | Maple syrup urine disease, mild variant [RCV001063013] | uncertain significance | 4 | 88265017 | 88265017 | Human | 1 | name |
| 26887556 | CV829521 | single nucleotide variant | NM_152542.5(PPM1K):c.475C>G (p.Leu159Val) | Maple syrup urine disease, mild variant [RCV001066724] | uncertain significance | 4 | 88277209 | 88277209 | Human | 1 | name |
| 26904689 | CV829522 | single nucleotide variant | NM_152542.5(PPM1K):c.311G>A (p.Arg104Gln) | Maple syrup urine disease, mild variant [RCV001036668]|not specified [RCV004030996] | uncertain significance | 4 | 88278273 | 88278273 | Human | 1 | name |
| 38487751 | CV923621 | single nucleotide variant | NM_152542.5(PPM1K):c.388G>A (p.Gly130Ser) | Maple syrup urine disease, mild variant [RCV001220878] | uncertain significance | 4 | 88278196 | 88278196 | Human | 1 | name |
| 38487815 | CV932464 | single nucleotide variant | NM_152542.5(PPM1K):c.526C>T (p.Arg176Cys) | Maple syrup urine disease, mild variant [RCV001209473]|not specified [RCV004847779] | uncertain significance | 4 | 88277158 | 88277158 | Human | 1 | name |
| 126746675 | CV990309 | single nucleotide variant | NM_152542.5(PPM1K):c.974C>T (p.Ala325Val) | Maple syrup urine disease, mild variant [RCV001296611]|not specified [RCV004036039] | uncertain significance | 4 | 88265014 | 88265014 | Human | 1 | name |
| 126924527 | CV1042970 | single nucleotide variant | NM_152542.5(PPM1K):c.1075T>A (p.Phe359Ile) | Maple syrup urine disease, mild variant [RCV001367137]|not specified [RCV005262444] | uncertain significance | 4 | 88262639 | 88262639 | Human | 1 | name |
| 151782403 | CV1381493 | single nucleotide variant | NM_152542.5(PPM1K):c.1057A>G (p.Lys353Glu) | Maple syrup urine disease, mild variant [RCV001875485]|not specified [RCV004041415] | uncertain significance | 4 | 88262657 | 88262657 | Human | 1 | name |
| 151782153 | CV1469003 | single nucleotide variant | NM_152542.5(PPM1K):c.1055A>G (p.Tyr352Cys) | Maple syrup urine disease, mild variant [RCV002026363] | uncertain significance | 4 | 88262659 | 88262659 | Human | 1 | name |
| 156355966 | CV1894888 | single nucleotide variant | NM_152542.5(PPM1K):c.1034C>T (p.Pro345Leu) | Maple syrup urine disease, mild variant [RCV003091357] | uncertain significance | 4 | 88262680 | 88262680 | Human | 1 | name |
| 156263450 | CV2030260 | single nucleotide variant | NM_152542.5(PPM1K):c.1096G>T (p.Ala366Ser) | Maple syrup urine disease, mild variant [RCV002746389] | uncertain significance | 4 | 88262618 | 88262618 | Human | 1 | name |
| 405058066 | CV2980721 | single nucleotide variant | NM_152542.5(PPM1K):c.1100C>G (p.Ser367Cys) | Maple syrup urine disease, mild variant [RCV003655733] | uncertain significance | 4 | 88262614 | 88262614 | Human | 1 | name |
| 8604624 | CV49877 | deletion | NM_152542.5(PPM1K):c.417_418del (p.Thr140fs) | Maple syrup urine disease, mild variant [RCV000034326] | pathogenic|uncertain significance | 4 | 88278166 | 88278167 | Human | 1 | name |
