| 408388851 | CV3520931 | single nucleotide variant | NM_017636.4(TRPM4):c.-3A>T | not provided [RCV004761764] | uncertain significance | 19 | 49157864 | 49157864 | Human | | name |
| 597833216 | CV3734922 | single nucleotide variant | NM_017636.4(TRPM4):c.-4C>A | not provided [RCV005054655] | uncertain significance | 19 | 49157863 | 49157863 | Human | | name |
| 28873184 | CV882322 | single nucleotide variant | NM_017636.4(TRPM4):c.*6G>A | Progressive familial heart block type IB [RCV001132711] | uncertain significance | 19 | 49211504 | 49211504 | Human | 1 | name |
| 150483599 | CV1210160 | single nucleotide variant | NM_017636.4(TRPM4):c.*80C>T | not provided [RCV001590859] | likely benign | 19 | 49211578 | 49211578 | Human | | name |
| 11549977 | CV257190 | single nucleotide variant | NM_017636.4(TRPM4):c.-12G>A | Progressive familial heart block type IB [RCV000395241]|not provided [RCV004717123]|not specified [RCV000251128] | benign|likely benign | 19 | 49157855 | 49157855 | Human | 1 | name |
| 11625324 | CV344007 | single nucleotide variant | NM_017636.4(TRPM4):c.*81G>T | Progressive familial heart block type IB [RCV000397602] | uncertain significance | 19 | 49211579 | 49211579 | Human | | name |
| 11630119 | CV350225 | single nucleotide variant | NM_017636.4(TRPM4):c.*12G>A | Progressive familial heart block type IB [RCV000340959] | uncertain significance | 19 | 49211510 | 49211510 | Human | 1 | name |
| 11628454 | CV350226 | single nucleotide variant | NM_017636.4(TRPM4):c.*84C>T | Progressive familial heart block type IB [RCV000301447] | uncertain significance | 19 | 49211582 | 49211582 | Human | 1 | name |
| 28873188 | CV882323 | single nucleotide variant | NM_017636.4(TRPM4):c.*15C>G | Progressive familial heart block type IB [RCV001132712]|not specified [RCV005419007] | benign|uncertain significance | 19 | 49211513 | 49211513 | Human | 1 | name |
| 127303714 | CV1148989 | single nucleotide variant | NM_017636.4(TRPM4):c.93-4C>A | Cardiovascular phenotype [RCV002377873]|Progressive familial heart block type IB [RCV001499466] | likely benign|uncertain significance | 19 | 49166037 | 49166037 | Human | 1 | name |
| 156407930 | CV1873116 | single nucleotide variant | NM_017636.4(TRPM4):c.92+5G>C | Progressive familial heart block type IB [RCV003071073] | uncertain significance | 19 | 49158264 | 49158264 | Human | 1 | name |
| 156197007 | CV2005733 | single nucleotide variant | NM_017636.4(TRPM4):c.25-6C>A | Progressive familial heart block type IB [RCV002643500] | likely benign | 19 | 49158186 | 49158186 | Human | 1 | name |
| 405037299 | CV2942026 | single nucleotide variant | NM_017636.4(TRPM4):c.93-7C>T | Progressive familial heart block type IB [RCV003609432] | likely benign | 19 | 49166034 | 49166034 | Human | 1 | name |
| 405709218 | CV3381468 | single nucleotide variant | NM_017636.4(TRPM4):c.92+3G>A | Cardiovascular phenotype [RCV004522202] | uncertain significance | 19 | 49158262 | 49158262 | Human | | name |
| 11630648 | CV349260 | single nucleotide variant | NM_017636.4(TRPM4):c.*119C>T | Progressive familial heart block type IB [RCV000353933]|not provided [RCV004694443] | uncertain significance | 19 | 49211617 | 49211617 | Human | 1 | name |
| 11629938 | CV350201 | single nucleotide variant | NM_017636.3(TRPM4):c.-107G>T | Progressive familial heart block [RCV000336563]|not provided [RCV002263047] | benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49157760 | 49157760 | Human | 1 | name |
| 12834852 | CV377817 | single nucleotide variant | NM_017636.4(TRPM4):c.24+6C>G | Progressive familial heart block type IB [RCV000645460]|not provided [RCV001700114] | likely benign|uncertain significance | 19 | 49157896 | 49157896 | Human | 1 | name |
| 597908609 | CV3843089 | single nucleotide variant | NM_017636.4(TRPM4):c.92+1G>A | Progressive familial heart block type IB [RCV005182397] | uncertain significance | 19 | 49158260 | 49158260 | Human | 1 | name |
| 13531813 | CV507482 | single nucleotide variant | NM_017636.4(TRPM4):c.24+7G>A | Progressive familial heart block type IB [RCV001412990]|not specified [RCV000606598] | likely benign | 19 | 49157897 | 49157897 | Human | 1 | name |
| 14710654 | CV653622 | single nucleotide variant | NM_017636.4(TRPM4):c.24+5G>A | Progressive familial heart block type IB [RCV000815366] | uncertain significance | 19 | 49157895 | 49157895 | Human | 1 | name |
| 14722264 | CV668907 | single nucleotide variant | NM_017636.3(TRPM4):c.-262C>T | not provided [RCV000832027] | likely benign | 19 | 49157605 | 49157605 | Human | | name |
| 14727082 | CV669940 | single nucleotide variant | NM_017636.3(TRPM4):c.-235A>G | not provided [RCV000834153] | benign | 19 | 49157632 | 49157632 | Human | | name |
| 28873190 | CV882324 | single nucleotide variant | NM_017636.4(TRPM4):c.*116G>C | Progressive familial heart block type IB [RCV001132713] | uncertain significance | 19 | 49211614 | 49211614 | Human | 1 | name |
| 28880972 | CV882325 | single nucleotide variant | NM_017636.4(TRPM4):c.*180G>A | Progressive familial heart block type IB [RCV001136113] | uncertain significance | 19 | 49211678 | 49211678 | Human | 1 | name |
| 28880976 | CV882326 | single nucleotide variant | NM_017636.4(TRPM4):c.*234C>T | Progressive familial heart block type IB [RCV001136114] | uncertain significance | 19 | 49211732 | 49211732 | Human | 1 | name |
| 28880977 | CV882327 | single nucleotide variant | NM_017636.4(TRPM4):c.*316G>A | Progressive familial heart block type IB [RCV001136115]|Progressive familial heart block type IB [RCV002491406] | uncertain significance | 19 | 49211814 | 49211814 | Human | 1 | name |
| 126737742 | CV1013829 | single nucleotide variant | NM_017636.4(TRPM4):c.268-1G>A | Cardiovascular phenotype [RCV002438703]|Progressive familial heart block type IB [RCV001314021] | uncertain significance | 19 | 49167916 | 49167916 | Human | 1 | name |
| 127232493 | CV1084894 | single nucleotide variant | NM_017636.4(TRPM4):c.268-6C>T | Progressive familial heart block type IB [RCV001413479] | likely benign | 19 | 49167911 | 49167911 | Human | 1 | name |
| 127304735 | CV1158633 | single nucleotide variant | NM_017636.4(TRPM4):c.613-5C>T | Cardiovascular phenotype [RCV002359143]|Progressive familial heart block type IB [RCV001516010] | benign|likely benign | 19 | 49168548 | 49168548 | Human | 1 | name |
| 150470563 | CV1258610 | single nucleotide variant | NM_017636.4(TRPM4):c.92+31A>G | Erythrokeratodermia variabilis et progressiva 6 [RCV001838767]|Progressive familial heart block type IB [RCV001838766]|not provided [RCV001684155] | benign | 19 | 49158290 | 49158290 | Human | 2 | name |
| 151811483 | CV1417473 | single nucleotide variant | NM_017636.4(TRPM4):c.267+7C>T | Progressive familial heart block type IB [RCV002029012] | uncertain significance | 19 | 49166222 | 49166222 | Human | 1 | name |
| 151864338 | CV1498729 | single nucleotide variant | NM_017636.4(TRPM4):c.858+3A>G | Progressive familial heart block type IB [RCV001980531] | uncertain significance | 19 | 49171421 | 49171421 | Human | 1 | name |
| 152111742 | CV1532101 | single nucleotide variant | NM_017636.4(TRPM4):c.93-13C>T | Progressive familial heart block type IB [RCV002116632] | likely benign | 19 | 49166028 | 49166028 | Human | 1 | name |
| 152065452 | CV1583433 | single nucleotide variant | NM_017636.4(TRPM4):c.24+15A>G | Progressive familial heart block type IB [RCV002110722] | likely benign | 19 | 49157905 | 49157905 | Human | 1 | name |
| 152054452 | CV1590733 | single nucleotide variant | NM_017636.4(TRPM4):c.24+10G>A | Progressive familial heart block type IB [RCV002109370] | likely benign | 19 | 49157900 | 49157900 | Human | 1 | name |
| 152053553 | CV1619449 | single nucleotide variant | NM_017636.4(TRPM4):c.859-4G>A | Cardiovascular phenotype [RCV002443098]|Progressive familial heart block type IB [RCV002167165] | likely benign|uncertain significance | 19 | 49171574 | 49171574 | Human | 1 | name |
| 152090743 | CV1662010 | single nucleotide variant | NM_017636.4(TRPM4):c.92+11C>A | Progressive familial heart block type IB [RCV002132012] | benign | 19 | 49158270 | 49158270 | Human | 1 | name |
| 155964907 | CV1882017 | single nucleotide variant | NM_017636.4(TRPM4):c.93-17C>T | Progressive familial heart block type IB [RCV003074881] | likely benign | 19 | 49166024 | 49166024 | Human | 1 | name |
| 156148143 | CV1895265 | single nucleotide variant | NM_017636.4(TRPM4):c.448+7G>A | Progressive familial heart block type IB [RCV003082454] | likely benign | 19 | 49168104 | 49168104 | Human | 1 | name |
| 156360215 | CV1904333 | single nucleotide variant | NM_017636.4(TRPM4):c.612+6A>T | Progressive familial heart block type IB [RCV002581674] | uncertain significance | 19 | 49168429 | 49168429 | Human | 1 | name |
| 156217527 | CV2035455 | deletion | NM_017636.4(TRPM4):c.858+9del | Progressive familial heart block type IB [RCV002766861] | benign | 19 | 49171424 | 49171424 | Human | 1 | name |
| 155922763 | CV2073779 | single nucleotide variant | NM_017636.4(TRPM4):c.92+13C>T | Progressive familial heart block type IB [RCV002838391] | likely benign | 19 | 49158272 | 49158272 | Human | 1 | name |
| 156098512 | CV2183736 | single nucleotide variant | NM_017636.4(TRPM4):c.25-14G>T | Progressive familial heart block type IB [RCV003054633] | likely benign | 19 | 49158178 | 49158178 | Human | 1 | name |
| 11346578 | CV243372 | single nucleotide variant | NM_017636.4(TRPM4):c.448+6C>T | Progressive familial heart block type IB [RCV000229016]|not specified [RCV000426929] | benign|likely benign | 19 | 49168103 | 49168103 | Human | 1 | name |
| 402468014 | CV2868093 | single nucleotide variant | NM_017636.4(TRPM4):c.267+1G>A | Progressive familial heart block type IB [RCV003503732] | uncertain significance | 19 | 49166216 | 49166216 | Human | 1 | name |
| 402470624 | CV2883236 | single nucleotide variant | NM_017636.4(TRPM4):c.268-7T>C | Progressive familial heart block type IB [RCV003504387] | likely benign | 19 | 49167910 | 49167910 | Human | 1 | name |
| 402470856 | CV2890867 | single nucleotide variant | NM_017636.4(TRPM4):c.24+10G>C | Progressive familial heart block type IB [RCV003504488] | likely benign | 19 | 49157900 | 49157900 | Human | 1 | name |
| 402470116 | CV2892715 | single nucleotide variant | NM_017636.4(TRPM4):c.93-20C>G | Progressive familial heart block type IB [RCV003504306] | likely benign | 19 | 49166021 | 49166021 | Human | 1 | name |
| 405131825 | CV2902976 | single nucleotide variant | NM_017636.4(TRPM4):c.93-10G>A | Progressive familial heart block type IB [RCV003502220] | likely benign | 19 | 49166031 | 49166031 | Human | 1 | name |
| 405044184 | CV2967131 | single nucleotide variant | NM_017636.4(TRPM4):c.268-3C>T | Progressive familial heart block type IB [RCV003610033] | uncertain significance | 19 | 49167914 | 49167914 | Human | 1 | name |
| 405049488 | CV2979751 | single nucleotide variant | NM_017636.4(TRPM4):c.613-8T>A | Progressive familial heart block type IB [RCV003610406] | likely benign | 19 | 49168545 | 49168545 | Human | 1 | name |
| 405053793 | CV3047325 | single nucleotide variant | NM_017636.4(TRPM4):c.797-4T>A | Cardiovascular phenotype [RCV004373999]|Progressive familial heart block type IB [RCV003610771] | likely benign | 19 | 49171353 | 49171353 | Human | 1 | name |
| 405042810 | CV3074570 | single nucleotide variant | NM_017636.4(TRPM4):c.25-13T>C | Progressive familial heart block type IB [RCV003609930] | likely benign | 19 | 49158179 | 49158179 | Human | 1 | name |
| 405709213 | CV3381467 | single nucleotide variant | NM_017636.4(TRPM4):c.613-2A>G | Cardiovascular phenotype [RCV004522201] | uncertain significance | 19 | 49168551 | 49168551 | Human | | name |
| 11629093 | CV350202 | single nucleotide variant | NM_017636.4(TRPM4):c.92+12G>A | Progressive familial heart block type IB [RCV000314484]|not specified [RCV000602795] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49158271 | 49158271 | Human | 1 | name |
| 12839874 | CV377589 | single nucleotide variant | NM_017636.4(TRPM4):c.25-10C>T | Progressive familial heart block type IB [RCV000864661]|not provided [RCV001704534] | likely benign | 19 | 49158182 | 49158182 | Human | 1 | name |
| 597921600 | CV3808066 | single nucleotide variant | NM_017636.4(TRPM4):c.858+6G>C | Progressive familial heart block type IB [RCV005155774] | uncertain significance | 19 | 49171424 | 49171424 | Human | 1 | name |
| 597890475 | CV3839753 | single nucleotide variant | NM_017636.4(TRPM4):c.92+18G>A | Progressive familial heart block type IB [RCV005179645] | likely benign | 19 | 49158277 | 49158277 | Human | 1 | name |
| 597884072 | CV3858031 | single nucleotide variant | NM_017636.4(TRPM4):c.448+1G>A | Progressive familial heart block type IB [RCV005199459] | uncertain significance | 19 | 49168098 | 49168098 | Human | 1 | name |
| 597861928 | CV3860460 | single nucleotide variant | NM_017636.4(TRPM4):c.24+16G>A | Progressive familial heart block type IB [RCV005195988] | likely benign | 19 | 49157906 | 49157906 | Human | 1 | name |
| 13540867 | CV507899 | single nucleotide variant | NM_017636.4(TRPM4):c.92+12G>C | Progressive familial heart block type IB [RCV003502539]|not specified [RCV000615314] | likely benign | 19 | 49158271 | 49158271 | Human | 1 | name |
| 13533845 | CV507903 | single nucleotide variant | NM_017636.4(TRPM4):c.93-18C>T | Progressive familial heart block type IB [RCV002060620]|not specified [RCV000607209] | benign | 19 | 49166023 | 49166023 | Human | 1 | name |
| 14727084 | CV669944 | single nucleotide variant | NM_017636.4(TRPM4):c.92+66T>C | not provided [RCV000834154] | benign | 19 | 49158325 | 49158325 | Human | | name |
| 14741227 | CV670069 | single nucleotide variant | NM_017636.4(TRPM4):c.92+17T>C | Progressive familial heart block type IB [RCV002538292]|not provided [RCV000840692] | likely benign | 19 | 49158276 | 49158276 | Human | 1 | name |
| 38463883 | CV960296 | single nucleotide variant | NM_017636.4(TRPM4):c.612+1G>A | Progressive familial heart block type IB [RCV001235178]|not provided [RCV002224030] | uncertain significance | 19 | 49168424 | 49168424 | Human | 1 | name |
| 126762749 | CV1034405 | single nucleotide variant | NM_017636.4(TRPM4):c.1050+2T>G | Progressive familial heart block type IB [RCV001341061] | uncertain significance | 19 | 49171771 | 49171771 | Human | 1 | name |
| 126770248 | CV1034406 | single nucleotide variant | NM_017636.4(TRPM4):c.1263+1G>A | Cardiovascular phenotype [RCV002447414]|Progressive familial heart block type IB [RCV001344368]|not provided [RCV003169661] | uncertain significance | 19 | 49181462 | 49181462 | Human | 1 | name |
| 126761621 | CV1034411 | single nucleotide variant | NM_017636.4(TRPM4):c.2953+5G>T | Progressive familial heart block type IB [RCV001340742] | uncertain significance | 19 | 49200790 | 49200790 | Human | 1 | name |
| 126915647 | CV1051409 | single nucleotide variant | NM_017636.4(TRPM4):c.2778+1G>A | Cardiovascular phenotype [RCV002438867]|Progressive familial heart block type IB [RCV001371039]|Progressive familial heart block type IB [RCV002493887] | uncertain significance | 19 | 49200433 | 49200433 | Human | 2 | name |
| 127265059 | CV1084897 | single nucleotide variant | NM_017636.4(TRPM4):c.1150+9T>A | Progressive familial heart block type IB [RCV001403475] | likely benign | 19 | 49172117 | 49172117 | Human | 1 | name |
| 127240082 | CV1084901 | single nucleotide variant | NM_017636.4(TRPM4):c.3534+9T>C | Progressive familial heart block type IB [RCV001397700] | likely benign | 19 | 49211096 | 49211096 | Human | 1 | name |
| 127293138 | CV1128039 | single nucleotide variant | NM_017636.4(TRPM4):c.2645+9C>T | Progressive familial heart block type IB [RCV001459144] | likely benign | 19 | 49196883 | 49196883 | Human | 1 | name |
| 150337839 | CV1173277 | single nucleotide variant | NM_017636.4(TRPM4):c.268-23G>A | Erythrokeratodermia variabilis et progressiva 6 [RCV001838684]|Progressive familial heart block type IB [RCV001838683]|not provided [RCV001541878] | benign | 19 | 49167894 | 49167894 | Human | 2 | name |
| 150422120 | CV1181785 | single nucleotide variant | NM_017636.4(TRPM4):c.859-64T>C | not provided [RCV001552356] | likely benign | 19 | 49171514 | 49171514 | Human | | name |
| 150405948 | CV1195439 | single nucleotide variant | NM_017636.4(TRPM4):c.267+97C>T | not provided [RCV001571861] | likely benign | 19 | 49166312 | 49166312 | Human | | name |
| 150421933 | CV1195440 | single nucleotide variant | NM_017636.4(TRPM4):c.858+51A>G | not provided [RCV001570750] | likely benign | 19 | 49171469 | 49171469 | Human | | name |
| 150509623 | CV1247360 | single nucleotide variant | NM_017636.4(TRPM4):c.268-85C>T | not provided [RCV001659387] | benign | 19 | 49167832 | 49167832 | Human | | name |
| 150437237 | CV1249836 | single nucleotide variant | NM_017636.4(TRPM4):c.92+162G>C | not provided [RCV001665750] | benign | 19 | 49158421 | 49158421 | Human | | name |
| 150495692 | CV1283030 | single nucleotide variant | NM_017636.4(TRPM4):c.797-51C>G | not provided [RCV001717440] | benign | 19 | 49171306 | 49171306 | Human | | name |
| 150531726 | CV1311263 | single nucleotide variant | NM_017636.4(TRPM4):c.268-11T>A | not provided [RCV001776998] | uncertain significance | 19 | 49167906 | 49167906 | Human | | name |
| 151775875 | CV1440252 | single nucleotide variant | NM_017636.4(TRPM4):c.1263+2T>G | Progressive familial heart block type IB [RCV001874896]|Progressive familial heart block type IB [RCV002490069] | uncertain significance | 19 | 49181463 | 49181463 | Human | 1 | name |
| 151743113 | CV1478261 | single nucleotide variant | NM_017636.4(TRPM4):c.1051-8T>C | Progressive familial heart block type IB [RCV002006012] | likely benign|uncertain significance | 19 | 49172001 | 49172001 | Human | 1 | name |
| 151871955 | CV1480588 | single nucleotide variant | NM_017636.4(TRPM4):c.3329-3C>G | Progressive familial heart block type IB [RCV001906605] | uncertain significance | 19 | 49210707 | 49210707 | Human | 1 | name |
| 151892540 | CV1493612 | single nucleotide variant | NM_017636.4(TRPM4):c.2019+5G>A | Cardiovascular phenotype [RCV002423091]|Progressive familial heart block type IB [RCV001944220] | uncertain significance | 19 | 49189096 | 49189096 | Human | 1 | name |
| 151845609 | CV1498656 | single nucleotide variant | NM_017636.4(TRPM4):c.2020-7C>A | Progressive familial heart block type IB [RCV001978235] | likely benign|uncertain significance | 19 | 49190201 | 49190201 | Human | 1 | name |
| 151792825 | CV1511085 | single nucleotide variant | NM_017636.4(TRPM4):c.2210+6T>C | Progressive familial heart block type IB [RCV001990238] | uncertain significance | 19 | 49190779 | 49190779 | Human | 1 | name |
| 151869591 | CV1516795 | single nucleotide variant | NM_017636.4(TRPM4):c.448+11G>T | Progressive familial heart block type IB [RCV001981125] | likely benign|uncertain significance | 19 | 49168108 | 49168108 | Human | 1 | name |
| 152160160 | CV1522796 | single nucleotide variant | NM_017636.4(TRPM4):c.2133-5G>A | Cardiovascular phenotype [RCV002416496]|Progressive familial heart block type IB [RCV002140781] | likely benign|uncertain significance | 19 | 49190691 | 49190691 | Human | 1 | name |
| 152125449 | CV1554061 | single nucleotide variant | NM_017636.4(TRPM4):c.268-18G>A | Progressive familial heart block type IB [RCV002098754] | likely benign | 19 | 49167899 | 49167899 | Human | 1 | name |
| 152138717 | CV1565201 | single nucleotide variant | NM_017636.4(TRPM4):c.2778+9G>A | Progressive familial heart block type IB [RCV002083870] | likely benign | 19 | 49200441 | 49200441 | Human | 1 | name |
| 152122768 | CV1570476 | single nucleotide variant | NM_017636.4(TRPM4):c.3462-7T>G | Progressive familial heart block type IB [RCV002217004] | likely benign | 19 | 49211008 | 49211008 | Human | 1 | name |
| 152155557 | CV1579652 | single nucleotide variant | NM_017636.4(TRPM4):c.449-11C>T | Progressive familial heart block type IB [RCV002158790] | likely benign | 19 | 49168249 | 49168249 | Human | 1 | name |
| 152125588 | CV1580923 | single nucleotide variant | NM_017636.4(TRPM4):c.858+14G>A | Progressive familial heart block type IB [RCV002082170] | likely benign | 19 | 49171432 | 49171432 | Human | 1 | name |
| 152128160 | CV1596502 | single nucleotide variant | NM_017636.4(TRPM4):c.858+11C>T | Progressive familial heart block type IB [RCV002118725] | likely benign | 19 | 49171429 | 49171429 | Human | 1 | name |
| 152151072 | CV1605594 | single nucleotide variant | NM_017636.4(TRPM4):c.448+20G>T | Progressive familial heart block type IB [RCV002102237] | likely benign | 19 | 49168117 | 49168117 | Human | 1 | name |
| 152045338 | CV1614158 | single nucleotide variant | NM_017636.4(TRPM4):c.448+12T>C | Progressive familial heart block type IB [RCV002166211] | likely benign | 19 | 49168109 | 49168109 | Human | 1 | name |
| 152052005 | CV1617284 | single nucleotide variant | NM_017636.4(TRPM4):c.2778+7C>G | Progressive familial heart block type IB [RCV002072498] | likely benign | 19 | 49200439 | 49200439 | Human | 1 | name |
| 152131988 | CV1633278 | single nucleotide variant | NM_017636.4(TRPM4):c.613-15C>G | Progressive familial heart block type IB [RCV002137042] | likely benign | 19 | 49168538 | 49168538 | Human | 1 | name |
| 152027233 | CV1636124 | single nucleotide variant | NM_017636.4(TRPM4):c.858+13G>A | Progressive familial heart block type IB [RCV002085065] | likely benign | 19 | 49171431 | 49171431 | Human | 1 | name |
| 152115924 | CV1637273 | single nucleotide variant | NM_017636.4(TRPM4):c.3535-4G>T | Progressive familial heart block type IB [RCV002216128] | likely benign | 19 | 49211160 | 49211160 | Human | 1 | name |
| 152163609 | CV1646640 | single nucleotide variant | NM_017636.4(TRPM4):c.796+11G>A | Progressive familial heart block type IB [RCV002160082] | likely benign | 19 | 49168747 | 49168747 | Human | 1 | name |
| 152064086 | CV1652214 | single nucleotide variant | NM_017636.4(TRPM4):c.2132+5G>A | Progressive familial heart block type IB [RCV002090642] | likely benign | 19 | 49190325 | 49190325 | Human | 1 | name |
| 152145586 | CV1661741 | single nucleotide variant | NM_017636.4(TRPM4):c.612+15C>T | Progressive familial heart block type IB [RCV002157376] | likely benign | 19 | 49168438 | 49168438 | Human | 1 | name |
| 152034494 | CV1669523 | single nucleotide variant | NM_017636.4(TRPM4):c.1264-1G>C | not provided [RCV002223514] | uncertain significance | 19 | 49182577 | 49182577 | Human | | name |
| 155691405 | CV1786082 | single nucleotide variant | NM_017636.4(TRPM4):c.3535-2A>C | Cardiovascular phenotype [RCV002459437] | uncertain significance | 19 | 49211162 | 49211162 | Human | | name |
| 155718267 | CV1788608 | single nucleotide variant | NM_017636.4(TRPM4):c.3329-3C>T | Cardiovascular phenotype [RCV002326449] | uncertain significance | 19 | 49210707 | 49210707 | Human | | name |
| 155668458 | CV1846606 | single nucleotide variant | NM_017636.4(TRPM4):c.2020-5C>A | Cardiovascular phenotype [RCV002419575]|Progressive familial heart block type IB [RCV003502670] | likely benign|uncertain significance | 19 | 49190203 | 49190203 | Human | 1 | name |
| 155748512 | CV1847171 | single nucleotide variant | NM_017636.4(TRPM4):c.2132+5G>T | Cardiovascular phenotype [RCV002417798]|Progressive familial heart block type IB [RCV003101073] | uncertain significance | 19 | 49190325 | 49190325 | Human | 1 | name |
| 155690723 | CV1847212 | single nucleotide variant | NM_017636.4(TRPM4):c.2211-5C>T | Cardiovascular phenotype [RCV002425866] | uncertain significance | 19 | 49196435 | 49196435 | Human | | name |
| 155680420 | CV1853226 | single nucleotide variant | NM_017636.4(TRPM4):c.2778+2T>C | Cardiovascular phenotype [RCV002439677] | uncertain significance | 19 | 49200434 | 49200434 | Human | | name |
| 155687736 | CV1853698 | single nucleotide variant | NM_017636.4(TRPM4):c.2953+5G>A | Cardiovascular phenotype [RCV002441894]|Progressive familial heart block type IB [RCV003102917] | uncertain significance | 19 | 49200790 | 49200790 | Human | 1 | name |
| 156007480 | CV1870521 | single nucleotide variant | NM_017636.4(TRPM4):c.796+10C>T | Progressive familial heart block type IB [RCV003076899] | likely benign | 19 | 49168746 | 49168746 | Human | 1 | name |
| 156014051 | CV1880762 | single nucleotide variant | NM_017636.4(TRPM4):c.3641-2A>T | Progressive familial heart block type IB [RCV003077258] | likely benign | 19 | 49211492 | 49211492 | Human | 1 | name |
| 156079550 | CV1908848 | single nucleotide variant | NM_017636.4(TRPM4):c.2778+7C>A | Progressive familial heart block type IB [RCV002591531] | likely benign | 19 | 49200439 | 49200439 | Human | 1 | name |
| 155935612 | CV1916416 | single nucleotide variant | NM_017636.4(TRPM4):c.3131+8C>T | Progressive familial heart block type IB [RCV002615283] | likely benign | 19 | 49202149 | 49202149 | Human | 1 | name |
| 156048875 | CV1927236 | single nucleotide variant | NM_017636.4(TRPM4):c.796+15C>T | Progressive familial heart block type IB [RCV002637864] | likely benign | 19 | 49168751 | 49168751 | Human | 1 | name |
| 156331166 | CV1954104 | single nucleotide variant | NM_017636.4(TRPM4):c.3461+9G>A | Progressive familial heart block type IB [RCV002580007] | likely benign | 19 | 49210851 | 49210851 | Human | 1 | name |
| 156222191 | CV1965503 | single nucleotide variant | NM_017636.4(TRPM4):c.3641-5C>T | Progressive familial heart block type IB [RCV002596502] | likely benign | 19 | 49211489 | 49211489 | Human | 1 | name |
| 156162450 | CV1989745 | single nucleotide variant | NM_017636.4(TRPM4):c.1609-3C>T | Progressive familial heart block type IB [RCV002642459] | uncertain significance | 19 | 49183075 | 49183075 | Human | 1 | name |
| 156405448 | CV1994399 | single nucleotide variant | NM_017636.4(TRPM4):c.858+20C>T | Progressive familial heart block type IB [RCV002658308] | likely benign | 19 | 49171438 | 49171438 | Human | 1 | name |
| 155990369 | CV2026920 | single nucleotide variant | NM_017636.4(TRPM4):c.858+12C>T | Progressive familial heart block type IB [RCV002755723] | likely benign | 19 | 49171430 | 49171430 | Human | 1 | name |
| 156127376 | CV2031348 | single nucleotide variant | NM_017636.4(TRPM4):c.3462-1G>T | Progressive familial heart block type IB [RCV002740433] | uncertain significance | 19 | 49211014 | 49211014 | Human | 1 | name |
| 156110512 | CV2042523 | duplication | NM_017636.4(TRPM4):c.2020-5dup | Progressive familial heart block type IB [RCV002785380] | benign | 19 | 49190197 | 49190198 | Human | 1 | name |
| 156027575 | CV2048516 | single nucleotide variant | NM_017636.4(TRPM4):c.1051-3C>T | Progressive familial heart block type IB [RCV002795887] | uncertain significance | 19 | 49172006 | 49172006 | Human | 1 | name |
| 156375432 | CV2049451 | single nucleotide variant | NM_017636.4(TRPM4):c.3328+8C>T | Progressive familial heart block type IB [RCV002814652] | likely benign | 19 | 49210413 | 49210413 | Human | 1 | name |
| 155935331 | CV2057967 | single nucleotide variant | NM_017636.4(TRPM4):c.613-12T>C | Progressive familial heart block type IB [RCV002815330] | likely benign | 19 | 49168541 | 49168541 | Human | 1 | name |
| 155911131 | CV2069476 | deletion | NM_017636.4(TRPM4):c.796+16del | Progressive familial heart block type IB [RCV002837724] | likely benign | 19 | 49168750 | 49168750 | Human | 1 | name |
| 156229595 | CV2085171 | single nucleotide variant | NM_017636.4(TRPM4):c.1608+4A>G | Progressive familial heart block type IB [RCV002876186] | uncertain significance | 19 | 49182926 | 49182926 | Human | 1 | name |
| 156318894 | CV2111847 | single nucleotide variant | NM_017636.4(TRPM4):c.796+10C>G | Progressive familial heart block type IB [RCV002937620] | likely benign | 19 | 49168746 | 49168746 | Human | 1 | name |
| 156014221 | CV2123116 | single nucleotide variant | NM_017636.4(TRPM4):c.2020-5C>G | Progressive familial heart block type IB [RCV002975813] | likely benign | 19 | 49190203 | 49190203 | Human | 1 | name |
| 156354714 | CV2129058 | single nucleotide variant | NM_017636.4(TRPM4):c.1874-7G>A | Progressive familial heart block type IB [RCV002966568] | likely benign | 19 | 49188939 | 49188939 | Human | 1 | name |
| 156324091 | CV2134378 | single nucleotide variant | NM_017636.4(TRPM4):c.448+16T>G | Progressive familial heart block type IB [RCV002963406] | likely benign | 19 | 49168113 | 49168113 | Human | 1 | name |
| 156213996 | CV2142189 | single nucleotide variant | NM_017636.4(TRPM4):c.449-13G>A | Progressive familial heart block type IB [RCV002985709] | uncertain significance | 19 | 49168247 | 49168247 | Human | 1 | name |
| 156135050 | CV2169423 | single nucleotide variant | NM_017636.4(TRPM4):c.858+17G>A | Progressive familial heart block type IB [RCV003022319] | likely benign | 19 | 49171435 | 49171435 | Human | 1 | name |
| 243064223 | CV2411270 | single nucleotide variant | NM_017636.4(TRPM4):c.2020-1G>A | not provided [RCV003142842] | uncertain significance | 19 | 49190207 | 49190207 | Human | | name |
| 11346947 | CV243373 | single nucleotide variant | NM_017636.4(TRPM4):c.449-10G>A | Progressive familial heart block type IB [RCV000230373]|not provided [RCV001812650]|not specified [RCV000253828] | benign|likely benign | 19 | 49168250 | 49168250 | Human | 1 | name |
| 401765985 | CV2724556 | single nucleotide variant | NM_017636.4(TRPM4):c.2953+1G>A | Cardiovascular phenotype [RCV003301658]|Progressive familial heart block type IB [RCV003502719] | uncertain significance | 19 | 49200786 | 49200786 | Human | 1 | name |
| 401868880 | CV2787598 | single nucleotide variant | NM_017636.4(TRPM4):c.3131+1G>T | Cardiovascular phenotype [RCV003380374] | uncertain significance | 19 | 49202142 | 49202142 | Human | | name |
| 401868888 | CV2787602 | single nucleotide variant | NM_017636.4(TRPM4):c.1744-3C>T | Cardiovascular phenotype [RCV003380378] | uncertain significance | 19 | 49188638 | 49188638 | Human | | name |
| 402479344 | CV2853302 | single nucleotide variant | NM_017636.4(TRPM4):c.2020-1G>C | Progressive familial heart block type IB [RCV003494497] | uncertain significance | 19 | 49190207 | 49190207 | Human | 1 | name |
| 402469680 | CV2888271 | single nucleotide variant | NM_017636.4(TRPM4):c.1150+9T>G | Progressive familial heart block type IB [RCV003504161] | likely benign | 19 | 49172117 | 49172117 | Human | 1 | name |
| 405131394 | CV2902835 | single nucleotide variant | NM_017636.4(TRPM4):c.3462-2A>C | Progressive familial heart block type IB [RCV003502175] | uncertain significance | 19 | 49211013 | 49211013 | Human | 1 | name |
| 402465749 | CV2914235 | single nucleotide variant | NM_017636.4(TRPM4):c.1874-9C>A | Progressive familial heart block type IB [RCV003503093] | likely benign | 19 | 49188937 | 49188937 | Human | 1 | name |
| 402466050 | CV2921444 | single nucleotide variant | NM_017636.4(TRPM4):c.2779-4A>G | Progressive familial heart block type IB [RCV003503169] | likely benign | 19 | 49200607 | 49200607 | Human | 1 | name |
| 405036484 | CV2947160 | single nucleotide variant | NM_017636.4(TRPM4):c.1050+7C>A | Progressive familial heart block type IB [RCV003609359] | likely benign | 19 | 49171776 | 49171776 | Human | 1 | name |
| 405044800 | CV2974509 | single nucleotide variant | NM_017636.4(TRPM4):c.1608+1G>T | Progressive familial heart block type IB [RCV003610077] | uncertain significance | 19 | 49182923 | 49182923 | Human | 1 | name |
| 405051252 | CV3020625 | single nucleotide variant | NM_017636.4(TRPM4):c.1264-3C>T | Progressive familial heart block type IB [RCV003610538] | uncertain significance | 19 | 49182575 | 49182575 | Human | 1 | name |
| 405033189 | CV3028509 | single nucleotide variant | NM_017636.4(TRPM4):c.448+15G>A | Progressive familial heart block type IB [RCV003609043] | likely benign | 19 | 49168112 | 49168112 | Human | 1 | name |
| 405040528 | CV3069869 | single nucleotide variant | NM_017636.4(TRPM4):c.797-13C>A | Progressive familial heart block type IB [RCV003609730] | likely benign | 19 | 49171344 | 49171344 | Human | 1 | name |
| 405043405 | CV3074080 | single nucleotide variant | NM_017636.4(TRPM4):c.3534+7C>G | Progressive familial heart block type IB [RCV003609885] | likely benign | 19 | 49211094 | 49211094 | Human | 1 | name |
| 405041638 | CV3076028 | single nucleotide variant | NM_017636.4(TRPM4):c.2953+6G>C | Progressive familial heart block type IB [RCV003609831] | uncertain significance | 19 | 49200791 | 49200791 | Human | 1 | name |
| 405173285 | CV3122919 | single nucleotide variant | NM_017636.4(TRPM4):c.1874-6C>T | Progressive familial heart block type IB [RCV003819317] | likely benign | 19 | 49188940 | 49188940 | Human | 1 | name |
| 405053058 | CV3138409 | single nucleotide variant | NM_017636.4(TRPM4):c.3461+8C>G | Progressive familial heart block type IB [RCV003832253] | likely benign | 19 | 49210850 | 49210850 | Human | 1 | name |
| 405165391 | CV3149416 | single nucleotide variant | NM_017636.4(TRPM4):c.2645+7G>T | Progressive familial heart block type IB [RCV003841078] | likely benign | 19 | 49196881 | 49196881 | Human | 1 | name |
| 405172396 | CV3150099 | single nucleotide variant | NM_017636.4(TRPM4):c.3641-3C>T | Progressive familial heart block type IB [RCV003841570] | uncertain significance | 19 | 49211491 | 49211491 | Human | 1 | name |
| 402500925 | CV3170490 | single nucleotide variant | NM_017636.4(TRPM4):c.3641-2A>G | Progressive familial heart block type IB [RCV003877862] | uncertain significance | 19 | 49211492 | 49211492 | Human | 1 | name |
| 402517565 | CV3178995 | single nucleotide variant | NM_017636.4(TRPM4):c.2133-5G>T | Progressive familial heart block type IB [RCV003879428] | likely benign | 19 | 49190691 | 49190691 | Human | 1 | name |
| 405278183 | CV3216495 | single nucleotide variant | NM_017636.4(TRPM4):c.2953+7G>A | TRPM4-related disorder [RCV004544139] | likely benign | 19 | 49200792 | 49200792 | Human | 1 | name , trait , alternate_id |
| 405655051 | CV3228447 | single nucleotide variant | NM_017636.4(TRPM4):c.2020-9C>T | Progressive familial heart block type IB [RCV005103190]|not specified [RCV003995182] | likely benign | 19 | 49190199 | 49190199 | Human | 1 | name |
| 11613586 | CV334051 | single nucleotide variant | NM_017636.4(TRPM4):c.267+14C>G | Progressive familial heart block type IB [RCV000269548]|not provided [RCV001812865]|not specified [RCV000432567] | benign|likely benign | 19 | 49166229 | 49166229 | Human | 1 | name |
| 11615987 | CV334074 | single nucleotide variant | NM_017636.4(TRPM4):c.2779-5C>T | Cardiovascular phenotype [RCV000618564]|Progressive familial heart block type IB [RCV000290649]|not specified [RCV000606695] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49200606 | 49200606 | Human | 1 | name |
| 405709034 | CV3381430 | single nucleotide variant | NM_017636.4(TRPM4):c.1151-5T>C | Cardiovascular phenotype [RCV004522164] | uncertain significance | 19 | 49181344 | 49181344 | Human | | name |
| 405709162 | CV3381456 | single nucleotide variant | NM_017636.4(TRPM4):c.3461+1G>A | Cardiovascular phenotype [RCV004522190] | uncertain significance | 19 | 49210843 | 49210843 | Human | | name |
| 11626522 | CV350216 | single nucleotide variant | NM_017636.4(TRPM4):c.2133-9C>G | Progressive familial heart block type IB [RCV000265621]|not specified [RCV000616586] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49190687 | 49190687 | Human | 1 | name |
| 597713578 | CV3622036 | single nucleotide variant | NM_017636.4(TRPM4):c.2646-2A>T | Cardiovascular phenotype [RCV004991053]|Progressive familial heart block type IB [RCV005109952] | uncertain significance | 19 | 49200298 | 49200298 | Human | 1 | name |
| 597910313 | CV3749609 | single nucleotide variant | NM_017636.4(TRPM4):c.1608+1G>A | Progressive familial heart block type IB [RCV005073457] | uncertain significance | 19 | 49182923 | 49182923 | Human | 1 | name |
| 597879926 | CV3763338 | single nucleotide variant | NM_017636.4(TRPM4):c.2211-8C>T | Progressive familial heart block type IB [RCV005108933] | likely benign | 19 | 49196432 | 49196432 | Human | 1 | name |
| 597950862 | CV3769363 | single nucleotide variant | NM_017636.4(TRPM4):c.2133-8C>A | Progressive familial heart block type IB [RCV005120922] | likely benign | 19 | 49190688 | 49190688 | Human | 1 | name |
| 597949160 | CV3772287 | single nucleotide variant | NM_017636.4(TRPM4):c.2132+9C>A | Progressive familial heart block type IB [RCV005120606] | likely benign | 19 | 49190329 | 49190329 | Human | 1 | name |
| 12844051 | CV377833 | single nucleotide variant | NM_017636.4(TRPM4):c.2020-8C>T | Progressive familial heart block type IB [RCV002064973]|not specified [RCV000437308] | likely benign | 19 | 49190200 | 49190200 | Human | 1 | name |
| 597962226 | CV3795408 | single nucleotide variant | NM_017636.4(TRPM4):c.796+13A>G | Progressive familial heart block type IB [RCV005139100] | likely benign | 19 | 49168749 | 49168749 | Human | 1 | name |
| 597970176 | CV3801882 | single nucleotide variant | NM_017636.4(TRPM4):c.3641-4C>T | Progressive familial heart block type IB [RCV005141674] | likely benign | 19 | 49211490 | 49211490 | Human | 1 | name |
| 597919720 | CV3811692 | single nucleotide variant | NM_017636.4(TRPM4):c.2210+1G>A | Progressive familial heart block type IB [RCV005155523] | uncertain significance | 19 | 49190774 | 49190774 | Human | 1 | name |
| 597969064 | CV3821366 | single nucleotide variant | NM_017636.4(TRPM4):c.268-11T>C | Progressive familial heart block type IB [RCV005166008] | likely benign | 19 | 49167906 | 49167906 | Human | 1 | name |
| 597847080 | CV3823941 | single nucleotide variant | NM_017636.4(TRPM4):c.3329-8C>T | Progressive familial heart block type IB [RCV005173180] | likely benign | 19 | 49210702 | 49210702 | Human | 1 | name |
| 597898845 | CV3826686 | single nucleotide variant | NM_017636.4(TRPM4):c.3329-1G>A | Progressive familial heart block type IB [RCV005180819] | uncertain significance | 19 | 49210709 | 49210709 | Human | 1 | name |
| 597847396 | CV3827996 | single nucleotide variant | NM_017636.4(TRPM4):c.267+10G>T | Progressive familial heart block type IB [RCV005173071] | likely benign | 19 | 49166225 | 49166225 | Human | 1 | name |
| 597957296 | CV3838374 | single nucleotide variant | NM_017636.4(TRPM4):c.1150+7G>C | Progressive familial heart block type IB [RCV005191749] | likely benign | 19 | 49172115 | 49172115 | Human | 1 | name |
| 597861773 | CV3850832 | single nucleotide variant | NM_017636.4(TRPM4):c.2645+3G>T | Progressive familial heart block type IB [RCV005195965] | uncertain significance | 19 | 49196877 | 49196877 | Human | 1 | name |
| 597914304 | CV3851088 | single nucleotide variant | NM_017636.4(TRPM4):c.2133-8C>T | Progressive familial heart block type IB [RCV005204056] | likely benign | 19 | 49190688 | 49190688 | Human | 1 | name |
| 597896039 | CV3853997 | single nucleotide variant | NM_017636.4(TRPM4):c.1609-5G>A | Progressive familial heart block type IB [RCV005201280] | uncertain significance | 19 | 49183073 | 49183073 | Human | 1 | name |
| 597870354 | CV3855181 | single nucleotide variant | NM_017636.4(TRPM4):c.2132+1G>T | Progressive familial heart block type IB [RCV005197346] | uncertain significance | 19 | 49190321 | 49190321 | Human | 1 | name |
| 597866215 | CV3857769 | single nucleotide variant | NM_017636.4(TRPM4):c.612+19G>C | Progressive familial heart block type IB [RCV005196716] | likely benign | 19 | 49168442 | 49168442 | Human | 1 | name |
| 597867789 | CV3857883 | single nucleotide variant | NM_017636.4(TRPM4):c.2132+1G>C | Progressive familial heart block type IB [RCV005196831] | uncertain significance | 19 | 49190321 | 49190321 | Human | 1 | name |
| 598236831 | CV3932175 | single nucleotide variant | NM_017636.4(TRPM4):c.3328+5G>C | Cardiovascular phenotype [RCV005296114] | uncertain significance | 19 | 49210410 | 49210410 | Human | | name |
| 13466529 | CV468952 | single nucleotide variant | NM_017636.4(TRPM4):c.1744-1G>A | Progressive familial heart block type IB [RCV000551480] | uncertain significance | 19 | 49188640 | 49188640 | Human | 1 | name |
| 13499146 | CV470372 | single nucleotide variant | NM_017636.4(TRPM4):c.267+10G>A | Progressive familial heart block type IB [RCV000531651] | likely benign | 19 | 49166225 | 49166225 | Human | 1 | name |
| 13539505 | CV506925 | single nucleotide variant | NM_017636.4(TRPM4):c.796+16C>G | Progressive familial heart block type IB [RCV002062912]|not specified [RCV000613374] | likely benign | 19 | 49168752 | 49168752 | Human | 1 | name |
| 13531741 | CV506937 | single nucleotide variant | NM_017636.4(TRPM4):c.3329-4G>A | not specified [RCV000601146] | likely benign | 19 | 49210706 | 49210706 | Human | | name |
| 13525894 | CV507485 | single nucleotide variant | NM_017636.4(TRPM4):c.449-14C>T | Progressive familial heart block type IB [RCV001128796]|not provided [RCV003736840]|not specified [RCV000603527] | benign|likely benign | 19 | 49168246 | 49168246 | Human | 1 | name |
| 13534981 | CV507503 | single nucleotide variant | NM_017636.4(TRPM4):c.2020-4A>C | Cardiovascular phenotype [RCV002420643]|Progressive familial heart block type IB [RCV001131572]|not provided [RCV001698476]|not specified [RCV000607497] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49190204 | 49190204 | Human | 1 | name |
| 13528486 | CV507905 | single nucleotide variant | NM_017636.4(TRPM4):c.268-19C>T | Progressive familial heart block type IB [RCV002066588]|not specified [RCV000600058] | likely benign | 19 | 49167898 | 49167898 | Human | 1 | name |
| 13531842 | CV507915 | single nucleotide variant | NM_017636.4(TRPM4):c.1873+4C>T | Cardiovascular phenotype [RCV002413715]|Progressive familial heart block type IB [RCV001128900]|not specified [RCV000606608] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49188774 | 49188774 | Human | 1 | name |
| 13528299 | CV513378 | single nucleotide variant | NM_017636.4(TRPM4):c.1150+1G>A | Cardiovascular phenotype [RCV003302965]|Progressive familial heart block type IB [RCV000625948]|Progressive familial heart block type IB [RCV002499017]|not provided [RCV000728368] | likely pathogenic|uncertain significance | 19 | 49172109 | 49172109 | Human | 2 | name |
| 13820985 | CV575005 | single nucleotide variant | NM_017636.4(TRPM4):c.3462-9C>A | Progressive familial heart block type IB [RCV000695261] | likely benign|uncertain significance | 19 | 49211006 | 49211006 | Human | 1 | name |
| 14693623 | CV620908 | single nucleotide variant | NM_017636.4(TRPM4):c.1050+1G>A | Cardiovascular phenotype [RCV002397556]|Progressive familial heart block type IB [RCV000779264]|Progressive familial heart block type IB [RCV002487601]|not provided [RCV001766616] | uncertain significance | 19 | 49171770 | 49171770 | Human | 2 | name |
| 14693624 | CV620909 | single nucleotide variant | NM_017636.4(TRPM4):c.2645+1G>A | Cardiovascular phenotype [RCV002458392]|Progressive familial heart block type IB [RCV000779265]|Progressive familial heart block type IB [RCV002501013] | uncertain significance | 19 | 49196875 | 49196875 | Human | 2 | name |
| 14693625 | CV620910 | single nucleotide variant | NM_017636.4(TRPM4):c.3328+1G>A | Progressive familial heart block type IB [RCV000779266] | uncertain significance | 19 | 49210406 | 49210406 | Human | | name |
| 14710711 | CV653509 | single nucleotide variant | NM_017636.4(TRPM4):c.2953+5G>C | Cardiovascular phenotype [RCV002433984]|Progressive familial heart block type IB [RCV000815487]|Progressive familial heart block type IB [RCV002495151]|not provided [RCV001766714] | uncertain significance | 19 | 49200790 | 49200790 | Human | 2 | name |
| 14728447 | CV668912 | single nucleotide variant | NM_017636.4(TRPM4):c.93-110T>C | not provided [RCV000834779] | benign | 19 | 49165931 | 49165931 | Human | | name |
| 14730723 | CV669953 | single nucleotide variant | NM_017636.4(TRPM4):c.613-39C>T | not provided [RCV000835808] | likely benign | 19 | 49168514 | 49168514 | Human | | name |
| 14728441 | CV670331 | single nucleotide variant | NM_017636.4(TRPM4):c.267+89C>G | not provided [RCV000834776] | benign | 19 | 49166304 | 49166304 | Human | | name |
| 15015372 | CV680064 | single nucleotide variant | NM_017636.4(TRPM4):c.1873+3G>T | Brugada syndrome [RCV000853593]|Cardiovascular phenotype [RCV002409009]|Progressive familial heart block type IB [RCV002536199] | uncertain significance | 19 | 49188773 | 49188773 | Human | 3 | name |
| 15136133 | CV690221 | single nucleotide variant | NM_017636.4(TRPM4):c.1051-9A>G | Progressive familial heart block type IB [RCV001513937] | benign | 19 | 49172000 | 49172000 | Human | 1 | name |
| 15144169 | CV690222 | single nucleotide variant | NM_017636.4(TRPM4):c.1874-9C>T | Progressive familial heart block type IB [RCV001128902]|not provided [RCV001576859] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49188937 | 49188937 | Human | 1 | name |
| 15145379 | CV690223 | single nucleotide variant | NM_017636.4(TRPM4):c.2645+9C>A | Progressive familial heart block type IB [RCV001413429] | likely benign | 19 | 49196883 | 49196883 | Human | 1 | name |
| 15137434 | CV695832 | single nucleotide variant | NM_017636.4(TRPM4):c.2779-8C>T | not provided [RCV000876996] | likely benign | 19 | 49200603 | 49200603 | Human | | name |
| 15169408 | CV731297 | single nucleotide variant | NM_017636.4(TRPM4):c.2210+9A>C | not provided [RCV000883260] | likely benign | 19 | 49190782 | 49190782 | Human | | name |
| 15148729 | CV745239 | single nucleotide variant | NM_017636.4(TRPM4):c.3329-8C>G | Progressive familial heart block type IB [RCV001487095]|Progressive familial heart block type IB [RCV002505303]|not provided [RCV004726728] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49210702 | 49210702 | Human | 1 | name |
| 15100659 | CV776624 | single nucleotide variant | NM_017636.4(TRPM4):c.2211-5C>A | Cardiovascular phenotype [RCV003380784]|Progressive familial heart block type IB [RCV001464480] | likely benign|uncertain significance | 19 | 49196435 | 49196435 | Human | 1 | name |
| 15115384 | CV776750 | single nucleotide variant | NM_017636.4(TRPM4):c.3462-8C>T | Progressive familial heart block type IB [RCV001429663] | likely benign | 19 | 49211007 | 49211007 | Human | 1 | name |
| 21066754 | CV797891 | single nucleotide variant | NM_017636.4(TRPM4):c.3328+2T>C | not provided [RCV000996963] | uncertain significance | 19 | 49210407 | 49210407 | Human | | name |
| 21405732 | CV800145 | deletion | NM_017636.4(TRPM4):c.2778+8del | Progressive familial heart block type IB [RCV001001075] | likely benign | 19 | 49200440 | 49200440 | Human | 1 | name |
| 26901410 | CV852983 | single nucleotide variant | NM_017636.4(TRPM4):c.1150+6A>G | Progressive familial heart block type IB [RCV001057701] | uncertain significance | 19 | 49172114 | 49172114 | Human | 1 | name |
| 38469174 | CV940488 | single nucleotide variant | NM_017636.4(TRPM4):c.3329-2A>G | Progressive familial heart block type IB [RCV001205208]|not provided [RCV001815997] | uncertain significance | 19 | 49210708 | 49210708 | Human | 1 | name |
| 38456063 | CV941237 | single nucleotide variant | NM_017636.4(TRPM4):c.1150+5A>T | Cardiovascular phenotype [RCV002451478]|Progressive familial heart block type IB [RCV001216292] | uncertain significance | 19 | 49172113 | 49172113 | Human | 1 | name |
| 38465208 | CV960297 | single nucleotide variant | NM_017636.4(TRPM4):c.2020-3C>G | Progressive familial heart block type IB [RCV001237797] | uncertain significance | 19 | 49190205 | 49190205 | Human | 1 | name |
| 38598437 | CV964694 | single nucleotide variant | NM_017636.4(TRPM4):c.1608+1G>C | Progressive familial heart block type IB [RCV001253598] | uncertain significance | 19 | 49182923 | 49182923 | Human | 1 | name |
| 127336854 | CV1148993 | single nucleotide variant | NM_017636.4(TRPM4):c.1050+10T>A | Progressive familial heart block type IB [RCV001492454] | likely benign | 19 | 49171779 | 49171779 | Human | 1 | name |
| 150330543 | CV1173281 | single nucleotide variant | NM_017636.4(TRPM4):c.2954-83G>A | not provided [RCV001538141] | benign | 19 | 49201881 | 49201881 | Human | | name |
| 150406952 | CV1178412 | single nucleotide variant | NM_017636.4(TRPM4):c.3131+55T>G | not provided [RCV001545429] | likely benign | 19 | 49202196 | 49202196 | Human | | name |
| 150410831 | CV1178413 | single nucleotide variant | NM_017636.4(TRPM4):c.3131+72C>T | not provided [RCV001546848] | likely benign | 19 | 49202213 | 49202213 | Human | | name |
| 150423462 | CV1185510 | single nucleotide variant | NM_017636.4(TRPM4):c.1609-38G>A | not provided [RCV001555355] | likely benign | 19 | 49183040 | 49183040 | Human | | name |
| 150405809 | CV1195441 | duplication | NM_017636.4(TRPM4):c.1263+90dup | not provided [RCV001571795] | likely benign | 19 | 49181530 | 49181531 | Human | | name |
| 150418483 | CV1199160 | single nucleotide variant | NM_017636.4(TRPM4):c.797-161A>G | not provided [RCV001576758] | likely benign | 19 | 49171196 | 49171196 | Human | | name |
| 150418809 | CV1199163 | single nucleotide variant | NM_017636.4(TRPM4):c.2953+46C>G | not provided [RCV001576903] | likely benign | 19 | 49200831 | 49200831 | Human | | name |
| 150487795 | CV1208159 | single nucleotide variant | NM_017636.4(TRPM4):c.3132-63C>A | not provided [RCV001592019] | likely benign | 19 | 49210146 | 49210146 | Human | | name |
| 150510773 | CV1210569 | single nucleotide variant | NM_017636.4(TRPM4):c.1744-76T>C | not provided [RCV001597748] | benign | 19 | 49188565 | 49188565 | Human | | name |
| 150444387 | CV1233009 | single nucleotide variant | NM_017636.4(TRPM4):c.797-119C>A | not provided [RCV001645682] | benign | 19 | 49171238 | 49171238 | Human | | name |
| 150441833 | CV1233605 | single nucleotide variant | NM_017636.4(TRPM4):c.2645+74A>G | not provided [RCV001645293] | benign | 19 | 49196948 | 49196948 | Human | | name |
| 150491102 | CV1239225 | single nucleotide variant | NM_017636.4(TRPM4):c.2778+75A>G | not provided [RCV001654793] | benign | 19 | 49200507 | 49200507 | Human | | name |
| 150506376 | CV1242200 | single nucleotide variant | NM_017636.4(TRPM4):c.1264-82C>A | not provided [RCV001658553] | benign | 19 | 49182496 | 49182496 | Human | | name |
| 150458482 | CV1248942 | single nucleotide variant | NM_017636.4(TRPM4):c.267+105A>G | not provided [RCV001669118] | benign | 19 | 49166320 | 49166320 | Human | | name |
| 150489256 | CV1250520 | single nucleotide variant | NM_017636.4(TRPM4):c.2019+25C>G | Erythrokeratodermia variabilis et progressiva 6 [RCV001838751]|Progressive familial heart block type IB [RCV001838750]|not provided [RCV001674483] | benign | 19 | 49189116 | 49189116 | Human | 2 | name |
| 150455827 | CV1259922 | single nucleotide variant | NM_017636.4(TRPM4):c.1263+94G>A | not provided [RCV001681401] | benign | 19 | 49181555 | 49181555 | Human | | name |
| 150495688 | CV1283029 | single nucleotide variant | NM_017636.4(TRPM4):c.2778+58G>C | not provided [RCV001717439] | benign | 19 | 49200490 | 49200490 | Human | | name |
| 150440215 | CV1287151 | single nucleotide variant | NM_017636.4(TRPM4):c.3534+27A>G | not provided [RCV001725066] | benign | 19 | 49211114 | 49211114 | Human | | name |
| 150440222 | CV1287152 | single nucleotide variant | NM_017636.4(TRPM4):c.2646-85C>T | not provided [RCV001725067] | benign | 19 | 49200215 | 49200215 | Human | | name |
| 150444663 | CV1288055 | single nucleotide variant | NM_017636.4(TRPM4):c.1051-89G>A | not provided [RCV001725777] | benign | 19 | 49171920 | 49171920 | Human | | name |
| 151858649 | CV1503519 | single nucleotide variant | NM_017636.4(TRPM4):c.1609-12T>G | Progressive familial heart block type IB [RCV001979839] | likely benign | 19 | 49183066 | 49183066 | Human | 1 | name |
| 151742842 | CV1507476 | single nucleotide variant | NM_017636.4(TRPM4):c.1874-19A>G | Progressive familial heart block type IB [RCV001968316] | uncertain significance | 19 | 49188927 | 49188927 | Human | 1 | name |
| 152047825 | CV1519818 | single nucleotide variant | NM_017636.4(TRPM4):c.3329-10G>A | Progressive familial heart block type IB [RCV002145287] | likely benign | 19 | 49210700 | 49210700 | Human | 1 | name |
| 152074191 | CV1520878 | single nucleotide variant | NM_017636.4(TRPM4):c.2211-14C>G | Progressive familial heart block type IB [RCV002075505] | likely benign | 19 | 49196426 | 49196426 | Human | 1 | name |
| 152122309 | CV1541483 | single nucleotide variant | NM_017636.4(TRPM4):c.3534+19G>T | Progressive familial heart block type IB [RCV002175742] | likely benign | 19 | 49211106 | 49211106 | Human | 1 | name |
| 152043985 | CV1552178 | single nucleotide variant | NM_017636.4(TRPM4):c.1050+11G>C | Progressive familial heart block type IB [RCV002166055] | likely benign | 19 | 49171780 | 49171780 | Human | 1 | name |
| 152085509 | CV1555081 | single nucleotide variant | NM_017636.4(TRPM4):c.3461+13C>T | Progressive familial heart block type IB [RCV002211989] | likely benign | 19 | 49210855 | 49210855 | Human | 1 | name |
| 152139073 | CV1572379 | single nucleotide variant | NM_017636.4(TRPM4):c.2778+18C>G | Progressive familial heart block type IB [RCV002219131] | likely benign | 19 | 49200450 | 49200450 | Human | 1 | name |
| 152121336 | CV1574451 | single nucleotide variant | NM_017636.4(TRPM4):c.1743+17C>T | Progressive familial heart block type IB [RCV002175620] | likely benign | 19 | 49183229 | 49183229 | Human | 1 | name |
| 152132471 | CV1585084 | single nucleotide variant | NM_017636.4(TRPM4):c.2779-13C>T | Progressive familial heart block type IB [RCV002083052] | likely benign | 19 | 49200598 | 49200598 | Human | 1 | name |
| 152054194 | CV1596092 | single nucleotide variant | NM_017636.4(TRPM4):c.2132+19G>T | Progressive familial heart block type IB [RCV002072732] | likely benign | 19 | 49190339 | 49190339 | Human | 1 | name |
| 152126426 | CV1596242 | single nucleotide variant | NM_017636.4(TRPM4):c.1743+19C>G | Progressive familial heart block type IB [RCV002118516] | likely benign | 19 | 49183231 | 49183231 | Human | 1 | name |
| 152171655 | CV1597698 | single nucleotide variant | NM_017636.4(TRPM4):c.1609-18C>T | Progressive familial heart block type IB [RCV002162190] | likely benign | 19 | 49183060 | 49183060 | Human | 1 | name |
| 152114631 | CV1600182 | single nucleotide variant | NM_017636.4(TRPM4):c.2019+12C>T | Progressive familial heart block type IB [RCV002097305] | likely benign | 19 | 49189103 | 49189103 | Human | 1 | name |
| 152120089 | CV1612233 | single nucleotide variant | NM_017636.4(TRPM4):c.2953+16G>A | Progressive familial heart block type IB [RCV002135600] | likely benign | 19 | 49200801 | 49200801 | Human | 1 | name |
| 152094950 | CV1617627 | single nucleotide variant | NM_017636.4(TRPM4):c.2778+17G>A | Progressive familial heart block type IB [RCV002114580] | likely benign | 19 | 49200449 | 49200449 | Human | 1 | name |
| 152166552 | CV1621115 | single nucleotide variant | NM_017636.4(TRPM4):c.2020-13C>T | Progressive familial heart block type IB [RCV002181958] | likely benign | 19 | 49190195 | 49190195 | Human | 1 | name |
| 152049441 | CV1627735 | single nucleotide variant | NM_017636.4(TRPM4):c.2779-15C>G | Progressive familial heart block type IB [RCV002108760] | benign | 19 | 49200596 | 49200596 | Human | 1 | name |
| 152034533 | CV1634943 | single nucleotide variant | NM_017636.4(TRPM4):c.3328+12G>T | Progressive familial heart block type IB [RCV002086987] | likely benign | 19 | 49210417 | 49210417 | Human | 1 | name |
| 152134515 | CV1638406 | single nucleotide variant | NM_017636.4(TRPM4):c.1873+17G>T | Progressive familial heart block type IB [RCV002083322] | likely benign | 19 | 49188787 | 49188787 | Human | 1 | name |
| 152071180 | CV1638721 | single nucleotide variant | NM_017636.4(TRPM4):c.3641-16T>C | Progressive familial heart block type IB [RCV002075123] | likely benign | 19 | 49211478 | 49211478 | Human | 1 | name |
| 152026062 | CV1639236 | single nucleotide variant | NM_017636.4(TRPM4):c.3535-19C>T | Progressive familial heart block type IB [RCV002185026] | likely benign | 19 | 49211145 | 49211145 | Human | 1 | name |
| 152138448 | CV1645197 | single nucleotide variant | NM_017636.4(TRPM4):c.1608+10G>A | Progressive familial heart block type IB [RCV002137865] | likely benign | 19 | 49182932 | 49182932 | Human | 1 | name |
| 152170478 | CV1651112 | single nucleotide variant | NM_017636.4(TRPM4):c.2645+16C>A | Progressive familial heart block type IB [RCV002143128] | benign | 19 | 49196890 | 49196890 | Human | 1 | name |
| 152172989 | CV1652833 | single nucleotide variant | NM_017636.4(TRPM4):c.3641-12C>G | Progressive familial heart block type IB [RCV002143962] | likely benign | 19 | 49211482 | 49211482 | Human | 1 | name |
| 152028869 | CV1655437 | single nucleotide variant | NM_017636.4(TRPM4):c.1608+10G>T | Progressive familial heart block type IB [RCV002105387] | likely benign | 19 | 49182932 | 49182932 | Human | 1 | name |
| 152067647 | CV1660136 | single nucleotide variant | NM_017636.4(TRPM4):c.3461+19C>A | Progressive familial heart block type IB [RCV002147649] | likely benign | 19 | 49210861 | 49210861 | Human | 1 | name |
| 152115710 | CV1662332 | single nucleotide variant | NM_017636.4(TRPM4):c.2645+17C>T | Progressive familial heart block type IB [RCV002097452] | likely benign | 19 | 49196891 | 49196891 | Human | 1 | name |
| 152137528 | CV1665036 | single nucleotide variant | NM_017636.4(TRPM4):c.2779-16C>T | Progressive familial heart block type IB [RCV002119907] | likely benign | 19 | 49200595 | 49200595 | Human | 1 | name |
| 156407723 | CV1868886 | single nucleotide variant | NM_017636.4(TRPM4):c.1608+11G>A | Progressive familial heart block type IB [RCV003070987] | likely benign | 19 | 49182933 | 49182933 | Human | 1 | name |
| 156022079 | CV1882418 | single nucleotide variant | NM_017636.4(TRPM4):c.1609-16C>T | Progressive familial heart block type IB [RCV003077671] | likely benign | 19 | 49183062 | 49183062 | Human | 1 | name |
| 156183349 | CV1884786 | single nucleotide variant | NM_017636.4(TRPM4):c.3640+16C>T | Progressive familial heart block type IB [RCV003083633] | likely benign | 19 | 49211285 | 49211285 | Human | 1 | name |
| 156410284 | CV1888440 | single nucleotide variant | NM_017636.4(TRPM4):c.2778+13C>A | Progressive familial heart block type IB [RCV003072007] | likely benign | 19 | 49200445 | 49200445 | Human | 1 | name |
| 156349510 | CV1889797 | single nucleotide variant | NM_017636.4(TRPM4):c.1874-20A>G | Progressive familial heart block type IB [RCV003090857] | likely benign | 19 | 49188926 | 49188926 | Human | 1 | name |
| 155952942 | CV1896406 | single nucleotide variant | NM_017636.4(TRPM4):c.1609-20A>T | Progressive familial heart block type IB [RCV003095431] | likely benign | 19 | 49183058 | 49183058 | Human | 1 | name |
| 156034816 | CV1932631 | single nucleotide variant | NM_017636.4(TRPM4):c.3329-14G>T | Progressive familial heart block type IB [RCV002637323] | likely benign | 19 | 49210696 | 49210696 | Human | 1 | name |
| 156299493 | CV1933390 | single nucleotide variant | NM_017636.4(TRPM4):c.2953+14C>A | Progressive familial heart block type IB [RCV002629175] | likely benign | 19 | 49200799 | 49200799 | Human | 1 | name |
| 156446632 | CV1947977 | single nucleotide variant | NM_017636.4(TRPM4):c.1874-11C>A | Progressive familial heart block type IB [RCV003118143] | likely benign | 19 | 49188935 | 49188935 | Human | 1 | name |
| 156385821 | CV1990194 | single nucleotide variant | NM_017636.4(TRPM4):c.1051-18G>C | Progressive familial heart block type IB [RCV002634606] | likely benign | 19 | 49171991 | 49171991 | Human | 1 | name |
| 156362604 | CV2003310 | single nucleotide variant | NM_017636.4(TRPM4):c.2020-18C>T | Progressive familial heart block type IB [RCV002676345] | likely benign | 19 | 49190190 | 49190190 | Human | 1 | name |
| 156355569 | CV2005214 | single nucleotide variant | NM_017636.4(TRPM4):c.3329-15C>T | Progressive familial heart block type IB [RCV002675899] | likely benign | 19 | 49210695 | 49210695 | Human | 1 | name |
| 156014869 | CV2009082 | single nucleotide variant | NM_017636.4(TRPM4):c.2954-20C>T | Progressive familial heart block type IB [RCV002690711] | likely benign | 19 | 49201944 | 49201944 | Human | 1 | name |
| 156234720 | CV2036346 | single nucleotide variant | NM_017636.4(TRPM4):c.2645+11C>T | Progressive familial heart block type IB [RCV002805452] | likely benign | 19 | 49196885 | 49196885 | Human | 1 | name |
| 156231484 | CV2048722 | single nucleotide variant | NM_017636.4(TRPM4):c.1873+17G>A | Progressive familial heart block type IB [RCV002791013] | likely benign | 19 | 49188787 | 49188787 | Human | 1 | name |
| 156173317 | CV2053463 | single nucleotide variant | NM_017636.4(TRPM4):c.2645+12G>C | Progressive familial heart block type IB [RCV002802016] | likely benign | 19 | 49196886 | 49196886 | Human | 1 | name |
| 156313352 | CV2063576 | single nucleotide variant | NM_017636.4(TRPM4):c.2211-11T>C | Progressive familial heart block type IB [RCV002834252] | likely benign | 19 | 49196429 | 49196429 | Human | 1 | name |
| 156313394 | CV2063579 | single nucleotide variant | NM_017636.4(TRPM4):c.1744-14C>T | Progressive familial heart block type IB [RCV002834254] | likely benign | 19 | 49188627 | 49188627 | Human | 1 | name |
| 155933244 | CV2064170 | single nucleotide variant | NM_017636.4(TRPM4):c.3328+10G>A | Progressive familial heart block type IB [RCV002861261] | likely benign | 19 | 49210415 | 49210415 | Human | 1 | name |
| 155962787 | CV2080555 | single nucleotide variant | NM_017636.4(TRPM4):c.1050+15G>C | Progressive familial heart block type IB [RCV002862938] | likely benign | 19 | 49171784 | 49171784 | Human | 1 | name |
| 156146830 | CV2090924 | single nucleotide variant | NM_017636.4(TRPM4):c.2646-17A>G | Progressive familial heart block type IB [RCV002890515] | likely benign | 19 | 49200283 | 49200283 | Human | 1 | name |
| 156114015 | CV2104534 | single nucleotide variant | NM_017636.4(TRPM4):c.1051-15C>A | Progressive familial heart block type IB [RCV002927550] | likely benign | 19 | 49171994 | 49171994 | Human | 1 | name |
| 156110610 | CV2108235 | single nucleotide variant | NM_017636.4(TRPM4):c.1050+15G>T | Progressive familial heart block type IB [RCV002927412] | likely benign | 19 | 49171784 | 49171784 | Human | 1 | name |
| 156102857 | CV2117304 | single nucleotide variant | NM_017636.4(TRPM4):c.2133-19G>A | Progressive familial heart block type IB [RCV002952803] | likely benign | 19 | 49190677 | 49190677 | Human | 1 | name |
| 156026247 | CV2128982 | single nucleotide variant | NM_017636.4(TRPM4):c.3328+16G>A | Progressive familial heart block type IB [RCV002949018] | likely benign | 19 | 49210421 | 49210421 | Human | 1 | name |
| 155971322 | CV2139752 | single nucleotide variant | NM_017636.4(TRPM4):c.2645+10C>T | Progressive familial heart block type IB [RCV002995640] | likely benign | 19 | 49196884 | 49196884 | Human | 1 | name |
| 156304384 | CV2166814 | single nucleotide variant | NM_017636.4(TRPM4):c.2133-11C>G | Progressive familial heart block type IB [RCV003045707] | likely benign | 19 | 49190685 | 49190685 | Human | 1 | name |
| 156135203 | CV2169435 | deletion | NM_017636.4(TRPM4):c.1609-16del | Progressive familial heart block type IB [RCV003022325] | benign | 19 | 49183059 | 49183059 | Human | 1 | name |
| 156192316 | CV2175289 | deletion | NM_017636.4(TRPM4):c.1051-14del | Progressive familial heart block type IB [RCV003057875] | likely benign | 19 | 49171995 | 49171995 | Human | 1 | name |
| 156343823 | CV2176153 | duplication | NM_017636.4(TRPM4):c.1609-15dup | Progressive familial heart block type IB [RCV003030442] | likely benign | 19 | 49183062 | 49183063 | Human | 1 | name |
| 156257728 | CV2185381 | single nucleotide variant | NM_017636.4(TRPM4):c.3462-15G>T | Progressive familial heart block type IB [RCV003044011] | likely benign | 19 | 49211000 | 49211000 | Human | 1 | name |
| 156265226 | CV2189153 | single nucleotide variant | NM_017636.4(TRPM4):c.1609-13C>G | Progressive familial heart block type IB [RCV003044260] | likely benign | 19 | 49183065 | 49183065 | Human | 1 | name |
| 402469443 | CV2880898 | single nucleotide variant | NM_017636.4(TRPM4):c.2020-18C>A | Progressive familial heart block type IB [RCV003504097] | likely benign | 19 | 49190190 | 49190190 | Human | 1 | name |
| 402469467 | CV2880972 | single nucleotide variant | NM_017636.4(TRPM4):c.3461+12G>A | Progressive familial heart block type IB [RCV003504103] | likely benign | 19 | 49210854 | 49210854 | Human | 1 | name |
| 402470617 | CV2886676 | single nucleotide variant | NM_017636.4(TRPM4):c.1743+13T>G | Progressive familial heart block type IB [RCV003504377] | likely benign | 19 | 49183225 | 49183225 | Human | 1 | name |
| 402469684 | CV2888306 | single nucleotide variant | NM_017636.4(TRPM4):c.3535-15C>G | Progressive familial heart block type IB [RCV003504162] | likely benign | 19 | 49211149 | 49211149 | Human | 1 | name |
| 402470383 | CV2892046 | single nucleotide variant | NM_017636.4(TRPM4):c.1743+19C>T | Progressive familial heart block type IB [RCV003504192] | likely benign | 19 | 49183231 | 49183231 | Human | 1 | name |
| 405130439 | CV2895260 | single nucleotide variant | NM_017636.4(TRPM4):c.2132+17G>A | Progressive familial heart block type IB [RCV003502077] | likely benign | 19 | 49190337 | 49190337 | Human | 1 | name |
| 405131478 | CV2900100 | single nucleotide variant | NM_017636.4(TRPM4):c.3329-10G>T | Progressive familial heart block type IB [RCV003502184] | likely benign | 19 | 49210700 | 49210700 | Human | 1 | name |
| 405036150 | CV2936607 | single nucleotide variant | NM_017636.4(TRPM4):c.2211-19C>G | Progressive familial heart block type IB [RCV003609330] | likely benign | 19 | 49196421 | 49196421 | Human | 1 | name |
| 405036496 | CV2947172 | single nucleotide variant | NM_017636.4(TRPM4):c.1150+15C>T | Progressive familial heart block type IB [RCV003609360] | likely benign | 19 | 49172123 | 49172123 | Human | 1 | name |
| 405044058 | CV2970486 | single nucleotide variant | NM_017636.4(TRPM4):c.3328+17G>T | Progressive familial heart block type IB [RCV003610024] | likely benign | 19 | 49210422 | 49210422 | Human | 1 | name |
| 405046895 | CV2971234 | single nucleotide variant | NM_017636.4(TRPM4):c.3132-15C>T | Progressive familial heart block type IB [RCV003610066] | likely benign | 19 | 49210194 | 49210194 | Human | 1 | name |
| 405048365 | CV2977699 | single nucleotide variant | NM_017636.4(TRPM4):c.2210+13T>C | Progressive familial heart block type IB [RCV003610264] | likely benign | 19 | 49190786 | 49190786 | Human | 1 | name |
| 405049189 | CV2979475 | single nucleotide variant | NM_017636.4(TRPM4):c.3329-16C>T | Progressive familial heart block type IB [RCV003610383] | likely benign | 19 | 49210694 | 49210694 | Human | 1 | name |
| 405049425 | CV2983322 | single nucleotide variant | NM_017636.4(TRPM4):c.3329-18C>G | Progressive familial heart block type IB [RCV003610401] | uncertain significance | 19 | 49210692 | 49210692 | Human | 1 | name |
| 405050196 | CV2994354 | single nucleotide variant | NM_017636.4(TRPM4):c.2020-10C>T | Progressive familial heart block type IB [RCV003610457] | likely benign | 19 | 49190198 | 49190198 | Human | 1 | name |
| 405051387 | CV3024485 | single nucleotide variant | NM_017636.4(TRPM4):c.1150+13C>A | Progressive familial heart block type IB [RCV003610549] | likely benign | 19 | 49172121 | 49172121 | Human | 1 | name |
| 405051286 | CV3030895 | single nucleotide variant | NM_017636.4(TRPM4):c.3534+16C>T | Progressive familial heart block type IB [RCV003610541] | likely benign | 19 | 49211103 | 49211103 | Human | 1 | name |
| 405051296 | CV3030969 | single nucleotide variant | NM_017636.4(TRPM4):c.1051-18G>A | Progressive familial heart block type IB [RCV003610542] | likely benign | 19 | 49171991 | 49171991 | Human | 1 | name |
| 405041413 | CV3066659 | single nucleotide variant | NM_017636.4(TRPM4):c.1609-10T>C | Progressive familial heart block type IB [RCV003609754] | likely benign | 19 | 49183068 | 49183068 | Human | 1 | name |
| 405043622 | CV3073371 | single nucleotide variant | NM_017636.4(TRPM4):c.2646-11C>A | Progressive familial heart block type IB [RCV003609806] | likely benign | 19 | 49200289 | 49200289 | Human | 1 | name |
| 405042233 | CV3074046 | duplication | NM_017636.4(TRPM4):c.1608+25dup | Progressive familial heart block type IB [RCV003609884] | benign | 19 | 49182941 | 49182942 | Human | 1 | name |
| 405042529 | CV3079846 | single nucleotide variant | NM_017636.4(TRPM4):c.2210+16A>T | Progressive familial heart block type IB [RCV003609908] | likely benign | 19 | 49190789 | 49190789 | Human | 1 | name |
| 405161364 | CV3153053 | single nucleotide variant | NM_017636.4(TRPM4):c.1151-10A>G | Progressive familial heart block type IB [RCV003840788] | uncertain significance | 19 | 49181339 | 49181339 | Human | 1 | name |
| 405227440 | CV3180202 | single nucleotide variant | NM_017636.4(TRPM4):c.2954-15T>A | Progressive familial heart block type IB [RCV003864622] | likely benign|uncertain significance | 19 | 49201949 | 49201949 | Human | 1 | name |
| 405288763 | CV3209924 | single nucleotide variant | NM_017636.4(TRPM4):c.2779-10C>A | TRPM4-related disorder [RCV004544100] | likely benign | 19 | 49200601 | 49200601 | Human | 1 | name , trait , alternate_id |
| 405281486 | CV3224157 | single nucleotide variant | NM_017636.4(TRPM4):c.3132-20T>C | not specified [RCV003988539] | likely benign | 19 | 49210189 | 49210189 | Human | | name |
| 11615841 | CV343993 | single nucleotide variant | NM_017636.4(TRPM4):c.2954-11T>C | Progressive familial heart block type IB [RCV000289362]|not provided [RCV001547231] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49201953 | 49201953 | Human | 1 | name |
| 11629243 | CV349253 | single nucleotide variant | NM_017636.4(TRPM4):c.2210+11C>G | Progressive familial heart block type IB [RCV000318350]|not provided [RCV004717302]|not specified [RCV000417860] | benign|likely benign | 19 | 49190784 | 49190784 | Human | 1 | name |
| 12740993 | CV360434 | single nucleotide variant | NM_017636.4(TRPM4):c.2778+11G>T | not specified [RCV000413748] | uncertain significance | 19 | 49200443 | 49200443 | Human | | name |
| 597845441 | CV3736287 | single nucleotide variant | NM_017636.4(TRPM4):c.3131+17C>G | Progressive familial heart block type IB [RCV005065635] | likely benign | 19 | 49202158 | 49202158 | Human | 1 | name |
| 597882240 | CV3745031 | single nucleotide variant | NM_017636.4(TRPM4):c.2645+11C>G | Progressive familial heart block type IB [RCV005070056] | likely benign | 19 | 49196885 | 49196885 | Human | 1 | name |
| 597831430 | CV3750945 | single nucleotide variant | NM_017636.4(TRPM4):c.1873+14G>A | Progressive familial heart block type IB [RCV005084689] | likely benign | 19 | 49188784 | 49188784 | Human | 1 | name |
| 597966546 | CV3751605 | single nucleotide variant | NM_017636.4(TRPM4):c.2133-10C>T | Progressive familial heart block type IB [RCV005082975] | likely benign | 19 | 49190686 | 49190686 | Human | 1 | name |
| 597841077 | CV3752741 | single nucleotide variant | NM_017636.4(TRPM4):c.3534+19G>A | Progressive familial heart block type IB [RCV005086470] | likely benign | 19 | 49211106 | 49211106 | Human | 1 | name |
| 597950318 | CV3759673 | single nucleotide variant | NM_017636.4(TRPM4):c.3641-11T>C | Progressive familial heart block type IB [RCV005079273] | likely benign | 19 | 49211483 | 49211483 | Human | 1 | name |
| 597834320 | CV3760736 | single nucleotide variant | NM_017636.4(TRPM4):c.1873+10G>T | Progressive familial heart block type IB [RCV005085287] | likely benign | 19 | 49188780 | 49188780 | Human | 1 | name |
| 597834772 | CV3760806 | single nucleotide variant | NM_017636.4(TRPM4):c.1873+18C>T | Progressive familial heart block type IB [RCV005085357] | likely benign | 19 | 49188788 | 49188788 | Human | 1 | name |
| 12847552 | CV376628 | single nucleotide variant | NM_017636.4(TRPM4):c.1151-20T>A | Progressive familial heart block type IB [RCV002064971]|not specified [RCV000443691] | benign | 19 | 49181329 | 49181329 | Human | 1 | name |
| 12848264 | CV376641 | single nucleotide variant | NM_017636.4(TRPM4):c.1873+13C>G | Progressive familial heart block type IB [RCV001128901]|not specified [RCV000444967] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49188783 | 49188783 | Human | 1 | name |
| 597864145 | CV3766999 | single nucleotide variant | NM_017636.4(TRPM4):c.1263+17T>C | Progressive familial heart block type IB [RCV005106521] | likely benign | 19 | 49181478 | 49181478 | Human | 1 | name |
| 597916841 | CV3767750 | single nucleotide variant | NM_017636.4(TRPM4):c.1743+20T>C | Progressive familial heart block type IB [RCV005114551] | likely benign | 19 | 49183232 | 49183232 | Human | 1 | name |
| 12835053 | CV377591 | single nucleotide variant | NM_017636.4(TRPM4):c.3329-13C>T | Progressive familial heart block type IB [RCV002060003]|not provided [RCV001721423] | likely benign | 19 | 49210697 | 49210697 | Human | 1 | name |
| 12842402 | CV377592 | single nucleotide variant | NM_017636.4(TRPM4):c.3641-19C>G | Progressive familial heart block type IB [RCV002062406]|Progressive familial heart block type IB [RCV002481306]|not provided [RCV001723992]|not specified [RCV000434333] | benign|likely benign | 19 | 49211475 | 49211475 | Human | 1 | name |
| 12843858 | CV377823 | single nucleotide variant | NM_017636.4(TRPM4):c.1150+15C>G | Progressive familial heart block type IB [RCV002063526]|not provided [RCV001698375] | benign|likely benign | 19 | 49172123 | 49172123 | Human | 1 | name |
| 12839078 | CV377848 | single nucleotide variant | NM_017636.4(TRPM4):c.3641-17T>G | Progressive familial heart block type IB [RCV002059936]|not provided [RCV001810938]|not specified [RCV000428158] | benign|likely benign | 19 | 49211477 | 49211477 | Human | 1 | name |
| 597899305 | CV3782478 | single nucleotide variant | NM_017636.4(TRPM4):c.2954-19T>G | Progressive familial heart block type IB [RCV005126703] | likely benign | 19 | 49201945 | 49201945 | Human | 1 | name |
| 597927242 | CV3783402 | single nucleotide variant | NM_017636.4(TRPM4):c.1151-13C>T | Progressive familial heart block type IB [RCV005116089] | likely benign | 19 | 49181336 | 49181336 | Human | 1 | name |
| 597902000 | CV3796764 | single nucleotide variant | NM_017636.4(TRPM4):c.2778+20A>G | Progressive familial heart block type IB [RCV005152847] | likely benign | 19 | 49200452 | 49200452 | Human | 1 | name |
| 597957295 | CV3800430 | single nucleotide variant | NM_017636.4(TRPM4):c.1874-18C>G | Progressive familial heart block type IB [RCV005137522] | uncertain significance | 19 | 49188928 | 49188928 | Human | 1 | name |
| 597908909 | CV3806405 | single nucleotide variant | NM_017636.4(TRPM4):c.1608+12G>A | Progressive familial heart block type IB [RCV005153972] | likely benign | 19 | 49182934 | 49182934 | Human | 1 | name |
| 597875084 | CV3816838 | single nucleotide variant | NM_017636.4(TRPM4):c.1744-14C>G | Progressive familial heart block type IB [RCV005148891] | likely benign | 19 | 49188627 | 49188627 | Human | 1 | name |
| 597914273 | CV3817506 | single nucleotide variant | NM_017636.4(TRPM4):c.2954-20C>G | Progressive familial heart block type IB [RCV005154708] | likely benign | 19 | 49201944 | 49201944 | Human | 1 | name |
| 597957264 | CV3838386 | single nucleotide variant | NM_017636.4(TRPM4):c.2778+13C>T | Progressive familial heart block type IB [RCV005191761] | likely benign | 19 | 49200445 | 49200445 | Human | 1 | name |
| 597921183 | CV3839410 | single nucleotide variant | NM_017636.4(TRPM4):c.1263+19G>T | Progressive familial heart block type IB [RCV005184342] | likely benign | 19 | 49181480 | 49181480 | Human | 1 | name |
| 597918957 | CV3842497 | single nucleotide variant | NM_017636.4(TRPM4):c.2953+14C>T | Progressive familial heart block type IB [RCV005183982] | likely benign | 19 | 49200799 | 49200799 | Human | 1 | name |
| 617153291 | CV4018606 | single nucleotide variant | NM_017636.4(TRPM4):c.3131+12C>T | not specified [RCV005418868] | likely benign | 19 | 49202153 | 49202153 | Human | | name |
| 13533874 | CV507096 | single nucleotide variant | NM_017636.4(TRPM4):c.2646-17A>T | Progressive familial heart block type IB [RCV002062176]|not provided [RCV004717683]|not specified [RCV000601784] | benign | 19 | 49200283 | 49200283 | Human | 1 | name |
| 13539207 | CV507098 | single nucleotide variant | NM_017636.4(TRPM4):c.2953+15G>A | Progressive familial heart block type IB [RCV001129016]|not provided [RCV004704105]|not specified [RCV000612956] | benign|likely benign | 19 | 49200800 | 49200800 | Human | 1 | name |
| 13536087 | CV507917 | single nucleotide variant | NM_017636.4(TRPM4):c.3131+17C>T | Progressive familial heart block type IB [RCV002062169]|not specified [RCV000608489] | benign | 19 | 49202158 | 49202158 | Human | 1 | name |
| 13538598 | CV507919 | single nucleotide variant | NM_017636.4(TRPM4):c.3329-14G>C | Progressive familial heart block type IB [RCV002063205]|not specified [RCV000612066] | likely benign | 19 | 49210696 | 49210696 | Human | 1 | name |
| 14738265 | CV668914 | single nucleotide variant | NM_017636.4(TRPM4):c.797-125A>G | not provided [RCV000839318] | benign | 19 | 49171232 | 49171232 | Human | | name |
| 14730726 | CV668922 | single nucleotide variant | NM_017636.4(TRPM4):c.1150+91C>T | not provided [RCV000835809] | likely benign | 19 | 49172199 | 49172199 | Human | | name |
| 14707800 | CV668923 | single nucleotide variant | NM_017636.4(TRPM4):c.2779-14A>G | not provided [RCV000826951] | likely benign | 19 | 49200597 | 49200597 | Human | | name |
| 14738296 | CV669958 | single nucleotide variant | NM_017636.4(TRPM4):c.2133-87C>T | not provided [RCV000839335] | benign | 19 | 49190609 | 49190609 | Human | | name |
| 14730782 | CV669965 | single nucleotide variant | NM_017636.4(TRPM4):c.3131+98C>T | not provided [RCV000835833] | benign | 19 | 49202239 | 49202239 | Human | | name |
| 14728443 | CV670070 | single nucleotide variant | NM_017636.4(TRPM4):c.1051-33C>T | not provided [RCV000834777] | benign | 19 | 49171976 | 49171976 | Human | | name |
| 14744137 | CV670072 | single nucleotide variant | NM_017636.4(TRPM4):c.2210+10G>T | Progressive familial heart block type IB [RCV003106080]|not provided [RCV000842556] | likely benign | 19 | 49190783 | 49190783 | Human | 1 | name |
| 14738294 | CV670335 | single nucleotide variant | NM_017636.4(TRPM4):c.2132+91G>A | not provided [RCV000839334] | benign | 19 | 49190411 | 49190411 | Human | | name |
| 14727122 | CV670336 | single nucleotide variant | NM_017636.4(TRPM4):c.3329-99G>A | not provided [RCV000834172] | likely benign | 19 | 49210611 | 49210611 | Human | | name |
| 28909685 | CV882916 | single nucleotide variant | NM_017636.4(TRPM4):c.2020-11A>T | Progressive familial heart block type IB [RCV001128904] | uncertain significance | 19 | 49190197 | 49190197 | Human | 1 | name |
| 150333889 | CV1173278 | single nucleotide variant | NM_017636.4(TRPM4):c.1264-341T>C | not provided [RCV001539683] | benign | 19 | 49182237 | 49182237 | Human | | name |
| 150335160 | CV1173280 | deletion | NM_017636.4(TRPM4):c.2132+172del | not provided [RCV001540434] | benign | 19 | 49190486 | 49190486 | Human | | name |
| 150418517 | CV1181788 | single nucleotide variant | NM_017636.4(TRPM4):c.2646-190A>C | not provided [RCV001550635] | likely benign | 19 | 49200110 | 49200110 | Human | | name |
| 150424283 | CV1185507 | single nucleotide variant | NM_017636.4(TRPM4):c.1263+216G>A | not provided [RCV001556458] | likely benign | 19 | 49181677 | 49181677 | Human | | name |
| 150423437 | CV1185511 | single nucleotide variant | NM_017636.4(TRPM4):c.2132+174T>C | not provided [RCV001555319] | likely benign | 19 | 49190494 | 49190494 | Human | | name |
| 150429085 | CV1188796 | single nucleotide variant | NM_017636.4(TRPM4):c.1151-338A>G | not provided [RCV001563132] | likely benign | 19 | 49181011 | 49181011 | Human | | name |
| 150426457 | CV1188799 | single nucleotide variant | NM_017636.4(TRPM4):c.3131+280G>A | not provided [RCV001559603] | likely benign | 19 | 49202421 | 49202421 | Human | | name |
| 150418221 | CV1195444 | single nucleotide variant | NM_017636.4(TRPM4):c.1743+246G>T | not provided [RCV001569115] | likely benign | 19 | 49183458 | 49183458 | Human | | name |
| 150476133 | CV1202344 | single nucleotide variant | NM_017636.4(TRPM4):c.1743+224G>A | not provided [RCV001589588] | likely benign | 19 | 49183436 | 49183436 | Human | | name |
| 150510447 | CV1211689 | deletion | NM_017636.4(TRPM4):c.2954-101del | not provided [RCV001597583] | benign | 19 | 49201860 | 49201860 | Human | | name |
| 150495593 | CV1225113 | single nucleotide variant | NM_017636.4(TRPM4):c.2953+227C>T | not provided [RCV001619591] | benign | 19 | 49201012 | 49201012 | Human | | name |
| 150516403 | CV1228339 | single nucleotide variant | NM_017636.4(TRPM4):c.2133-129A>G | not provided [RCV001639145] | benign | 19 | 49190567 | 49190567 | Human | | name |
| 150508749 | CV1229723 | single nucleotide variant | NM_017636.4(TRPM4):c.2954-136C>G | not provided [RCV001636301] | benign | 19 | 49201828 | 49201828 | Human | | name |
| 150432993 | CV1231626 | microsatellite | NM_017636.4(TRPM4):c.449-74GT[8] | not provided [RCV001643288] | benign | 19 | 49168185 | 49168186 | Human | | name |
| 150469028 | CV1249027 | single nucleotide variant | NM_017636.4(TRPM4):c.3131+242G>A | not provided [RCV001670788] | benign | 19 | 49202383 | 49202383 | Human | | name |
| 150487601 | CV1251550 | single nucleotide variant | NM_017636.4(TRPM4):c.1264-325T>C | not provided [RCV001674221] | benign | 19 | 49182253 | 49182253 | Human | | name |
| 150444054 | CV1258463 | single nucleotide variant | NM_017636.4(TRPM4):c.1151-247A>G | not provided [RCV001679661] | benign | 19 | 49181102 | 49181102 | Human | | name |
| 150472237 | CV1259260 | duplication | NM_017636.4(TRPM4):c.2953+226dup | not provided [RCV001684506] | benign | 19 | 49201000 | 49201001 | Human | | name |
| 150443170 | CV1266354 | single nucleotide variant | NM_017636.4(TRPM4):c.2020-287A>G | not provided [RCV001690790] | benign | 19 | 49189921 | 49189921 | Human | | name |
| 150468680 | CV1267969 | single nucleotide variant | NM_017636.4(TRPM4):c.1744-306G>T | not provided [RCV001694832] | benign | 19 | 49188335 | 49188335 | Human | | name |
| 150505420 | CV1286184 | single nucleotide variant | NM_017636.4(TRPM4):c.2646-156T>C | not provided [RCV001719609] | benign | 19 | 49200144 | 49200144 | Human | | name |
| 150505437 | CV1286188 | single nucleotide variant | NM_017636.4(TRPM4):c.1264-324G>A | not provided [RCV001719613] | benign | 19 | 49182254 | 49182254 | Human | | name |
| 150444655 | CV1288054 | single nucleotide variant | NM_017636.4(TRPM4):c.2646-246C>T | not provided [RCV001725776] | benign | 19 | 49200054 | 49200054 | Human | | name |
| 14730785 | CV668925 | single nucleotide variant | NM_017636.4(TRPM4):c.3131+105C>G | not provided [RCV000835834] | benign | 19 | 49202246 | 49202246 | Human | | name |
| 14738671 | CV670073 | single nucleotide variant | NM_017636.4(TRPM4):c.3131+110C>A | not provided [RCV000839504] | likely benign | 19 | 49202251 | 49202251 | Human | | name |
| 14728449 | CV670076 | single nucleotide variant | NM_017636.4(TRPM4):c.3132-213A>G | not provided [RCV000834780] | benign | 19 | 49209996 | 49209996 | Human | | name |
| 14746237 | CV670333 | single nucleotide variant | NM_017636.4(TRPM4):c.2020-347A>G | not provided [RCV000844225] | benign | 19 | 49189861 | 49189861 | Human | | name |
| 14736145 | CV670334 | single nucleotide variant | NM_017636.4(TRPM4):c.2020-117G>T | not provided [RCV000838343] | likely benign | 19 | 49190091 | 49190091 | Human | | name |
| 150470537 | CV1209339 | microsatellite | NM_017636.4(TRPM4):c.796+274AAT[9] | not provided [RCV001588450] | likely benign | 19 | 49169009 | 49169010 | Human | | name |
| 152073829 | CV1551949 | duplication | NM_017636.4(TRPM4):c.449-8_449-7dup | Progressive familial heart block type IB [RCV002075459] | likely benign | 19 | 49168250 | 49168251 | Human | 1 | name |
| 155727131 | CV1822438 | single nucleotide variant | NM_017636.4(TRPM4):c.6G>T (p.Val2=) | Cardiovascular phenotype [RCV002364789] | likely benign | 19 | 49157872 | 49157872 | Human | | name |
| 597830783 | CV3743323 | duplication | NM_017636.4(TRPM4):c.1606_1608+1dup | Progressive familial heart block type IB [RCV005062331] | uncertain significance | 19 | 49182918 | 49182919 | Human | 1 | name |
| 127234951 | CV1084893 | single nucleotide variant | NM_017636.4(TRPM4):c.18G>A (p.Lys6=) | Cardiovascular phenotype [RCV002413990]|Progressive familial heart block type IB [RCV001414303] | likely benign | 19 | 49157884 | 49157884 | Human | 1 | name |
| 150337463 | CV1173279 | microsatellite | NM_017636.4(TRPM4):c.1264-126CCAT[8] | not provided [RCV001541662] | benign | 19 | 49182452 | 49182467 | Human | | name |
| 150420861 | CV1181786 | microsatellite | NM_017636.4(TRPM4):c.1264-141CATC[4] | not provided [RCV001551746] | likely benign | 19 | 49182436 | 49182437 | Human | | name |
| 150423415 | CV1185508 | microsatellite | NM_017636.4(TRPM4):c.1264-323TCCA[5] | not provided [RCV001555288] | likely benign | 19 | 49182254 | 49182255 | Human | | name |
| 150404328 | CV1195443 | microsatellite | NM_017636.4(TRPM4):c.1264-126CCAT[9] | not provided [RCV001571056] | likely benign | 19 | 49182452 | 49182463 | Human | | name |
| 150435429 | CV1206990 | microsatellite | NM_017636.4(TRPM4):c.1264-141CATC[2] | not provided [RCV001582339] | likely benign | 19 | 49182437 | 49182440 | Human | | name |
| 151775996 | CV1424333 | single nucleotide variant | NM_017636.4(TRPM4):c.24G>A (p.Gln8=) | Progressive familial heart block type IB [RCV002025812]|Progressive familial heart block type IB [RCV002486649] | uncertain significance | 19 | 49157890 | 49157890 | Human | 1 | name |
| 155720596 | CV1835808 | single nucleotide variant | NM_017636.4(TRPM4):c.12G>C (p.Pro4=) | Cardiovascular phenotype [RCV002380809] | likely benign | 19 | 49157878 | 49157878 | Human | | name |
| 405166148 | CV3149414 | single nucleotide variant | NM_017636.4(TRPM4):c.12G>T (p.Pro4=) | Progressive familial heart block type IB [RCV003841076] | likely benign | 19 | 49157878 | 49157878 | Human | 1 | name |
| 597928350 | CV3837250 | deletion | NM_017636.4(TRPM4):c.1050_1050+19del | Progressive familial heart block type IB [RCV005185408] | uncertain significance | 19 | 49171763 | 49171782 | Human | 1 | name |
| 13531361 | CV507086 | single nucleotide variant | NM_017636.4(TRPM4):c.12G>A (p.Pro4=) | Cardiovascular phenotype [RCV002384333]|Progressive familial heart block type IB [RCV002063320]|not specified [RCV000601024] | likely benign | 19 | 49157878 | 49157878 | Human | 1 | name |
| 150423628 | CV1185509 | microsatellite | NM_017636.4(TRPM4):c.1264-126CCAT[14] | not provided [RCV001555587] | likely benign | 19 | 49182451 | 49182452 | Human | | name |
| 150428588 | CV1188797 | microsatellite | NM_017636.4(TRPM4):c.1264-126CCAT[13] | not provided [RCV001562454] | likely benign | 19 | 49182451 | 49182452 | Human | | name |
| 150410546 | CV1192188 | microsatellite | NM_017636.4(TRPM4):c.1264-126CCAT[10] | not provided [RCV001566110] | likely benign | 19 | 49182452 | 49182459 | Human | | name |
| 150449790 | CV1202487 | microsatellite | NM_017636.4(TRPM4):c.1264-223TCCA[11] | not provided [RCV001585084] | likely benign | 19 | 49182354 | 49182355 | Human | | name |
| 150451106 | CV1232756 | microsatellite | NM_017636.4(TRPM4):c.1264-223TCCA[10] | not provided [RCV001647831] | benign | 19 | 49182354 | 49182355 | Human | | name |
| 150470128 | CV1259773 | microsatellite | NM_017636.4(TRPM4):c.1264-126CCAT[11] | not provided [RCV001684075] | benign | 19 | 49182452 | 49182455 | Human | | name |
| 151769719 | CV1410623 | single nucleotide variant | NM_017636.4(TRPM4):c.8T>C (p.Val3Ala) | Progressive familial heart block type IB [RCV001988119] | uncertain significance | 19 | 49157874 | 49157874 | Human | 1 | name |
| 151775575 | CV1424280 | single nucleotide variant | NM_017636.4(TRPM4):c.99C>T (p.Thr33=) | Cardiovascular phenotype [RCV004046096]|Progressive familial heart block type IB [RCV002025774] | likely benign | 19 | 49166047 | 49166047 | Human | 1 | name |
| 151846607 | CV1431666 | deletion | NM_017636.4(TRPM4):c.2645+4_2645+7del | Progressive familial heart block type IB [RCV001957415] | uncertain significance | 19 | 49196875 | 49196878 | Human | 1 | name |
| 152116214 | CV1553381 | single nucleotide variant | NM_017636.4(TRPM4):c.81C>T (p.Ser27=) | Cardiovascular phenotype [RCV002427606]|Progressive familial heart block type IB [RCV002080928] | likely benign | 19 | 49158248 | 49158248 | Human | 1 | name |
| 156412944 | CV1904660 | single nucleotide variant | NM_017636.4(TRPM4):c.2T>C (p.Met1Thr) | Progressive familial heart block type IB [RCV002587998] | uncertain significance | 19 | 49157868 | 49157868 | Human | 1 | name |
| 401868892 | CV2784091 | single nucleotide variant | NM_017636.4(TRPM4):c.3G>C (p.Met1Ile) | Cardiovascular phenotype [RCV003380380] | uncertain significance | 19 | 49157869 | 49157869 | Human | | name |
| 401868897 | CV2784094 | single nucleotide variant | NM_017636.4(TRPM4):c.1A>C (p.Met1Leu) | Cardiovascular phenotype [RCV003380383] | uncertain significance | 19 | 49157867 | 49157867 | Human | | name |
| 402469535 | CV2887742 | deletion | NM_017636.4(TRPM4):c.796+26_796+32del | Progressive familial heart block type IB [RCV003504122] | likely benign | 19 | 49168756 | 49168762 | Human | 1 | name |
| 402470917 | CV2898445 | deletion | NM_017636.4(TRPM4):c.796+30_796+43del | Progressive familial heart block type IB [RCV003504505] | uncertain significance | 19 | 49168755 | 49168768 | Human | 1 | name |
| 405055453 | CV3048981 | single nucleotide variant | NM_017636.4(TRPM4):c.96G>A (p.Gly32=) | Progressive familial heart block type IB [RCV003610877] | likely benign | 19 | 49166044 | 49166044 | Human | 1 | name |
| 597713587 | CV3622038 | single nucleotide variant | NM_017636.4(TRPM4):c.45C>T (p.Phe15=) | Cardiovascular phenotype [RCV004991055] | likely benign | 19 | 49158212 | 49158212 | Human | | name |
| 597876638 | CV3747885 | duplication | NM_017636.4(TRPM4):c.796+30_796+43dup | Progressive familial heart block type IB [RCV005069377] | uncertain significance | 19 | 49168754 | 49168755 | Human | 1 | name |
| 597836152 | CV3828370 | microsatellite | NM_017636.4(TRPM4):c.858+17_858+24del | Progressive familial heart block type IB [RCV005171262] | likely benign | 19 | 49171427 | 49171434 | Human | | name |
| 28876204 | CV882298 | single nucleotide variant | NM_017636.4(TRPM4):c.1A>G (p.Met1Val) | Progressive familial heart block type IB [RCV001134313] | uncertain significance | 19 | 49157867 | 49157867 | Human | 1 | name |
| 127280567 | CV1106645 | single nucleotide variant | NM_017636.4(TRPM4):c.159C>T (p.Phe53=) | Cardiovascular phenotype [RCV002405052]|Progressive familial heart block type IB [RCV001446549] | likely benign | 19 | 49166107 | 49166107 | Human | 1 | name |
| 127332566 | CV1148990 | single nucleotide variant | NM_017636.4(TRPM4):c.165A>G (p.Ala55=) | Cardiovascular phenotype [RCV002396171]|Progressive familial heart block type IB [RCV001489558] | likely benign | 19 | 49166113 | 49166113 | Human | 1 | name |
| 151880836 | CV1360116 | single nucleotide variant | NM_017636.4(TRPM4):c.10C>T (p.Pro4Ser) | Progressive familial heart block type IB [RCV002036852] | uncertain significance | 19 | 49157876 | 49157876 | Human | 1 | name |
| 152164119 | CV1557486 | single nucleotide variant | NM_017636.4(TRPM4):c.249C>G (p.Ala83=) | Cardiovascular phenotype [RCV003161523]|Progressive familial heart block type IB [RCV002141454] | likely benign | 19 | 49166197 | 49166197 | Human | 1 | name |
| 155738532 | CV1805178 | single nucleotide variant | NM_017636.4(TRPM4):c.117C>T (p.Arg39=) | Cardiovascular phenotype [RCV002342302] | likely benign | 19 | 49166065 | 49166065 | Human | | name |
| 155695484 | CV1844638 | single nucleotide variant | NM_017636.4(TRPM4):c.225C>T (p.Tyr75=) | Cardiovascular phenotype [RCV002443687] | likely benign | 19 | 49166173 | 49166173 | Human | | name |
| 155726324 | CV1848572 | single nucleotide variant | NM_017636.4(TRPM4):c.255C>A (p.Arg85=) | Cardiovascular phenotype [RCV002433361] | likely benign | 19 | 49166203 | 49166203 | Human | | name |
| 8596220 | CV18809 | single nucleotide variant | NM_017636.4(TRPM4):c.19G>A (p.Glu7Lys) | Progressive familial heart block type IB [RCV000003968]|TRPM4-related disorder [RCV004532279] | pathogenic|likely pathogenic | 19 | 49157885 | 49157885 | Human | 1 | name , alternate_id |
| 156152962 | CV1934528 | single nucleotide variant | NM_017636.4(TRPM4):c.144C>T (p.Ala48=) | Cardiovascular phenotype [RCV004072097]|Progressive familial heart block type IB [RCV002663957] | likely benign | 19 | 49166092 | 49166092 | Human | 1 | name |
| 156086401 | CV1983766 | single nucleotide variant | NM_017636.4(TRPM4):c.100T>C (p.Leu34=) | Cardiovascular phenotype [RCV004990809]|Progressive familial heart block type IB [RCV002621712] | likely benign | 19 | 49166048 | 49166048 | Human | 1 | name |
| 401766010 | CV2724568 | single nucleotide variant | NM_017636.4(TRPM4):c.18G>C (p.Lys6Asn) | Cardiovascular phenotype [RCV003301670] | uncertain significance | 19 | 49157884 | 49157884 | Human | | name |
| 405031855 | CV3009724 | single nucleotide variant | NM_017636.4(TRPM4):c.14A>C (p.Glu5Ala) | Progressive familial heart block type IB [RCV003608932] | uncertain significance | 19 | 49157880 | 49157880 | Human | 1 | name |
| 405055438 | CV3048976 | single nucleotide variant | NM_017636.4(TRPM4):c.198C>T (p.His66=) | Progressive familial heart block type IB [RCV003610876] | likely benign | 19 | 49166146 | 49166146 | Human | 1 | name |
| 405043000 | CV3072175 | single nucleotide variant | NM_017636.4(TRPM4):c.135C>T (p.Pro45=) | Progressive familial heart block type IB [RCV003609945] | likely benign | 19 | 49166083 | 49166083 | Human | 1 | name |
| 405047111 | CV3080680 | single nucleotide variant | NM_017636.4(TRPM4):c.189C>T (p.Ser63=) | Progressive familial heart block type IB [RCV003609987] | likely benign | 19 | 49166137 | 49166137 | Human | 1 | name |
| 405033528 | CV3130345 | single nucleotide variant | NM_017636.4(TRPM4):c.126C>T (p.Thr42=) | Progressive familial heart block type IB [RCV003830752] | likely benign | 19 | 49166074 | 49166074 | Human | 1 | name |
| 404980689 | CV3183399 | single nucleotide variant | NM_017636.4(TRPM4):c.117C>G (p.Arg39=) | Progressive familial heart block type IB [RCV003880422] | likely benign | 19 | 49166065 | 49166065 | Human | 1 | name |
| 405709129 | CV3381449 | single nucleotide variant | NM_017636.4(TRPM4):c.25A>G (p.Ser9Gly) | Cardiovascular phenotype [RCV004522183] | uncertain significance | 19 | 49158192 | 49158192 | Human | | name |
| 598123660 | CV3499329 | single nucleotide variant | NM_017636.4(TRPM4):c.273C>T (p.Leu91=) | Exertional Heat Illness [RCV005230658] | likely pathogenic | 19 | 49167922 | 49167922 | Human | | name |
| 11632025 | CV350205 | single nucleotide variant | NM_017636.4(TRPM4):c.243G>A (p.Thr81=) | Cardiovascular phenotype [RCV002450893]|Progressive familial heart block type IB [RCV000395249] | benign|likely benign|uncertain significance | 19 | 49166191 | 49166191 | Human | 1 | name |
| 11655621 | CV350213 | single nucleotide variant | NM_017636.4(TRPM4):c.291G>A (p.Thr97=) | Progressive familial heart block type IB [RCV001036936] | conflicting interpretations of pathogenicity|uncertain significance | 19 | 49167940 | 49167940 | Human | 1 | name |
| 408390457 | CV3527562 | deletion | NM_017636.4(TRPM4):c.36del (p.Lys13fs) | not provided [RCV004774829] | uncertain significance | 19 | 49158200 | 49158200 | Human | | name |
| 597858200 | CV3755812 | single nucleotide variant | NM_017636.4(TRPM4):c.228A>G (p.Gly76=) | Progressive familial heart block type IB [RCV005088963] | likely benign | 19 | 49166176 | 49166176 | Human | 1 | name |
| 12845618 | CV377816 | single nucleotide variant | NM_017636.4(TRPM4):c.23A>T (p.Gln8Leu) | Progressive familial heart block type IB [RCV002506057]|not provided [RCV000440150] | uncertain significance | 19 | 49157889 | 49157889 | Human | 1 | name |
| 597962636 | CV3791489 | deletion | NM_017636.4(TRPM4):c.3640+1_3641-61del | Progressive familial heart block type IB [RCV005139243] | uncertain significance | 19 | 49211268 | 49211431 | Human | 1 | name |
| 597864848 | CV3823227 | single nucleotide variant | NM_017636.4(TRPM4):c.246G>C (p.Gly82=) | Progressive familial heart block type IB [RCV005175577] | likely benign | 19 | 49166194 | 49166194 | Human | 1 | name |
| 597873402 | CV3836203 | single nucleotide variant | NM_017636.4(TRPM4):c.13G>C (p.Glu5Gln) | Progressive familial heart block type IB [RCV005177000] | uncertain significance | 19 | 49157879 | 49157879 | Human | 1 | name |
| 12888693 | CV403360 | single nucleotide variant | NM_017636.4(TRPM4):c.249C>T (p.Ala83=) | Cardiovascular phenotype [RCV000618066]|Progressive familial heart block type IB [RCV001087968]|not provided [RCV000835832]|not specified [RCV004701522] | benign|likely benign | 19 | 49166197 | 49166197 | Human | 1 | name |
| 13535904 | CV507088 | single nucleotide variant | NM_017636.4(TRPM4):c.240C>T (p.Phe80=) | Cardiovascular phenotype [RCV002448868]|Progressive familial heart block type IB [RCV002063248]|not specified [RCV000608222] | likely benign | 19 | 49166188 | 49166188 | Human | 1 | name |
| 13538808 | CV507484 | single nucleotide variant | NM_017636.4(TRPM4):c.168C>T (p.Ala56=) | Cardiovascular phenotype [RCV004024914]|Progressive familial heart block type IB [RCV001515768]|not provided [RCV005427139]|not specified [RCV000612377] | benign|likely benign | 19 | 49166116 | 49166116 | Human | 1 | name |
| 13528072 | CV510800 | single nucleotide variant | NM_017636.4(TRPM4):c.243G>C (p.Thr81=) | Cardiovascular phenotype [RCV000620495]|Progressive familial heart block type IB [RCV001408995] | likely benign | 19 | 49166191 | 49166191 | Human | 1 | name |
| 13805849 | CV570904 | single nucleotide variant | NM_017636.4(TRPM4):c.11C>G (p.Pro4Arg) | Progressive familial heart block type IB [RCV000700318]|Progressive familial heart block type IB [RCV002485716]|not provided [RCV001592896] | uncertain significance | 19 | 49157877 | 49157877 | Human | 1 | name |
| 21405854 | CV800141 | single nucleotide variant | NM_017636.4(TRPM4):c.246G>T (p.Gly82=) | Cardiovascular phenotype [RCV002454253]|Progressive familial heart block type IB [RCV001001283] | likely benign | 19 | 49166194 | 49166194 | Human | 1 | name |
| 38472157 | CV938771 | single nucleotide variant | NM_017636.4(TRPM4):c.255C>T (p.Arg85=) | Progressive familial heart block type IB [RCV001213460]|not provided [RCV001760188] | uncertain significance | 19 | 49166203 | 49166203 | Human | 1 | name |
| 39456180 | CV966490 | single nucleotide variant | NM_017636.4(TRPM4):c.216C>T (p.Thr72=) | Cardiovascular phenotype [RCV003166583]|not specified [RCV001256814] | likely benign | 19 | 49166164 | 49166164 | Human | | name |
| 126755562 | CV998705 | single nucleotide variant | NM_017636.4(TRPM4):c.13G>A (p.Glu5Lys) | Cardiovascular phenotype [RCV003375202]|Progressive familial heart block type IB [RCV001307890] | uncertain significance | 19 | 49157879 | 49157879 | Human | 1 | name |
| 126751752 | CV1013831 | single nucleotide variant | NM_017636.4(TRPM4):c.498T>A (p.Val166=) | Cardiovascular phenotype [RCV002350609]|Progressive familial heart block type IB [RCV001326980] | likely benign|uncertain significance | 19 | 49168309 | 49168309 | Human | 1 | name |
| 126740319 | CV1013832 | single nucleotide variant | NM_017636.4(TRPM4):c.735C>T (p.Gly245=) | Progressive familial heart block type IB [RCV001325182]|Progressive familial heart block type IB [RCV002499639] | likely benign|uncertain significance | 19 | 49168675 | 49168675 | Human | 1 | name |
| 127233067 | CV1084895 | single nucleotide variant | NM_017636.4(TRPM4):c.351G>C (p.Leu117=) | Progressive familial heart block type IB [RCV001413733] | likely benign | 19 | 49168000 | 49168000 | Human | 1 | name |
| 127236749 | CV1084896 | single nucleotide variant | NM_017636.4(TRPM4):c.727C>T (p.Leu243=) | Cardiovascular phenotype [RCV002384554]|Progressive familial heart block type IB [RCV001392139] | likely benign | 19 | 49168667 | 49168667 | Human | 1 | name |
| 127293110 | CV1128035 | single nucleotide variant | NM_017636.4(TRPM4):c.594C>T (p.Asp198=) | Cardiovascular phenotype [RCV003298793]|Progressive familial heart block type IB [RCV001459137] | likely benign | 19 | 49168405 | 49168405 | Human | 1 | name |
| 127322124 | CV1128036 | single nucleotide variant | NM_017636.4(TRPM4):c.723C>T (p.Gly241=) | Cardiovascular phenotype [RCV002377792]|Progressive familial heart block type IB [RCV001467460] | likely benign | 19 | 49168663 | 49168663 | Human | 1 | name |
| 127311418 | CV1148991 | single nucleotide variant | NM_017636.4(TRPM4):c.462C>T (p.Val154=) | Progressive familial heart block type IB [RCV001501606] | likely benign | 19 | 49168273 | 49168273 | Human | 1 | name |
| 127318168 | CV1148992 | single nucleotide variant | NM_017636.4(TRPM4):c.786G>A (p.Thr262=) | Cardiovascular phenotype [RCV002414172]|Progressive familial heart block type IB [RCV001483433] | likely benign | 19 | 49168726 | 49168726 | Human | 1 | name |
| 150419879 | CV1181784 | single nucleotide variant | NM_017636.4(TRPM4):c.345G>A (p.Pro115=) | Cardiovascular phenotype [RCV002458522]|Progressive familial heart block type IB [RCV002072046]|Progressive familial heart block type IB [RCV002501890]|not provided [RCV001551271] | likely benign | 19 | 49167994 | 49167994 | Human | 2 | name |
| 150418475 | CV1195442 | duplication | NM_017636.4(TRPM4):c.1263+86_1263+90dup | not provided [RCV001569234] | likely benign | 19 | 49181530 | 49181531 | Human | | name |
| 150421491 | CV1199161 | duplication | NM_017636.4(TRPM4):c.1263+87_1263+90dup | not provided [RCV001578058] | likely benign | 19 | 49181530 | 49181531 | Human | | name |
| 150514942 | CV1228680 | duplication | NM_017636.4(TRPM4):c.1263+89_1263+90dup | not provided [RCV001638668] | benign | 19 | 49181530 | 49181531 | Human | | name |
| 150508100 | CV1229552 | deletion | NM_017636.4(TRPM4):c.1264-99_1264-86del | not provided [RCV001636130] | benign | 19 | 49182479 | 49182492 | Human | | name |
| 150463476 | CV1263811 | duplication | NM_017636.4(TRPM4):c.1263+88_1263+90dup | not provided [RCV001682512] | benign | 19 | 49181530 | 49181531 | Human | | name |
| 151778677 | CV1337984 | single nucleotide variant | NM_017636.4(TRPM4):c.45C>A (p.Phe15Leu) | Cardiovascular phenotype [RCV004681273]|Progressive familial heart block type IB [RCV001930222]|not provided [RCV005054378] | uncertain significance | 19 | 49158212 | 49158212 | Human | 1 | name |
| 151827560 | CV1348107 | single nucleotide variant | NM_017636.4(TRPM4):c.354G>A (p.Val118=) | Progressive familial heart block type IB [RCV001870213] | likely benign|uncertain significance | 19 | 49168003 | 49168003 | Human | 1 | name |
| 151797873 | CV1352665 | single nucleotide variant | NM_017636.4(TRPM4):c.858G>A (p.Thr286=) | Progressive familial heart block type IB [RCV001877108]|Progressive familial heart block type IB [RCV002482570] | uncertain significance | 19 | 49171418 | 49171418 | Human | 1 | name |
| 151851268 | CV1365882 | single nucleotide variant | NM_017636.4(TRPM4):c.38A>G (p.Lys13Arg) | Cardiovascular phenotype [RCV003303336]|Progressive familial heart block type IB [RCV001922819] | uncertain significance | 19 | 49158205 | 49158205 | Human | 1 | name |
| 151806916 | CV1400156 | single nucleotide variant | NM_017636.4(TRPM4):c.69C>G (p.Phe23Leu) | Progressive familial heart block type IB [RCV002012074] | uncertain significance | 19 | 49158236 | 49158236 | Human | 1 | name |
| 151744807 | CV1501541 | single nucleotide variant | NM_017636.4(TRPM4):c.987C>T (p.Gly329=) | Cardiovascular phenotype [RCV002386876]|Progressive familial heart block type IB [RCV002042614] | likely benign|uncertain significance | 19 | 49171706 | 49171706 | Human | 1 | name |
| 152160547 | CV1530808 | single nucleotide variant | NM_017636.4(TRPM4):c.384C>T (p.Pro128=) | Cardiovascular phenotype [RCV003161587]|Progressive familial heart block type IB [RCV002123110] | likely benign | 19 | 49168033 | 49168033 | Human | 1 | name |
| 152117789 | CV1534725 | single nucleotide variant | NM_017636.4(TRPM4):c.531C>T (p.Ser177=) | Progressive familial heart block type IB [RCV002153869] | likely benign | 19 | 49168342 | 49168342 | Human | 1 | name |
| 152115857 | CV1537667 | single nucleotide variant | NM_017636.4(TRPM4):c.642C>T (p.Arg214=) | Cardiovascular phenotype [RCV004046343]|Progressive familial heart block type IB [RCV002135085] | likely benign | 19 | 49168582 | 49168582 | Human | 1 | name |
| 152063435 | CV1575170 | single nucleotide variant | NM_017636.4(TRPM4):c.687C>T (p.Tyr229=) | Progressive familial heart block type IB [RCV002110413] | likely benign | 19 | 49168627 | 49168627 | Human | 1 | name |
| 152129647 | CV1583935 | single nucleotide variant | NM_017636.4(TRPM4):c.321A>G (p.Thr107=) | Progressive familial heart block type IB [RCV002199152] | likely benign | 19 | 49167970 | 49167970 | Human | 1 | name |
| 152055940 | CV1588096 | single nucleotide variant | NM_017636.4(TRPM4):c.327A>G (p.Thr109=) | Progressive familial heart block type IB [RCV002189962] | likely benign | 19 | 49167976 | 49167976 | Human | 1 | name |
| 152135706 | CV1595021 | single nucleotide variant | NM_017636.4(TRPM4):c.375G>T (p.Ser125=) | Cardiovascular phenotype [RCV002361447]|Progressive familial heart block type IB [RCV002199911] | likely benign | 19 | 49168024 | 49168024 | Human | 1 | name |
| 152048765 | CV1633531 | single nucleotide variant | NM_017636.4(TRPM4):c.357G>T (p.Val119=) | Cardiovascular phenotype [RCV002460186]|Progressive familial heart block type IB [RCV002126968] | likely benign | 19 | 49168006 | 49168006 | Human | 1 | name |
| 152038793 | CV1644290 | single nucleotide variant | NM_017636.4(TRPM4):c.600C>G (p.Leu200=) | Progressive familial heart block type IB [RCV002165377] | likely benign | 19 | 49168411 | 49168411 | Human | 1 | name |
| 152104958 | CV1658851 | single nucleotide variant | NM_017636.4(TRPM4):c.711C>T (p.Asp237=) | Cardiovascular phenotype [RCV002363621]|Progressive familial heart block type IB [RCV002152278] | likely benign | 19 | 49168651 | 49168651 | Human | 1 | name |
| 155704304 | CV1787570 | single nucleotide variant | NM_017636.4(TRPM4):c.408C>T (p.Asp136=) | Cardiovascular phenotype [RCV002323197]|Progressive familial heart block type IB [RCV003094519] | likely benign | 19 | 49168057 | 49168057 | Human | 1 | name |
| 155702204 | CV1788413 | single nucleotide variant | NM_017636.4(TRPM4):c.31A>G (p.Ile11Val) | Cardiovascular phenotype [RCV002322949] | uncertain significance | 19 | 49158198 | 49158198 | Human | | name |
| 155726467 | CV1791074 | single nucleotide variant | NM_017636.4(TRPM4):c.420T>A (p.Arg140=) | Cardiovascular phenotype [RCV002327952] | likely benign | 19 | 49168069 | 49168069 | Human | | name |
| 155689234 | CV1803961 | single nucleotide variant | NM_017636.4(TRPM4):c.597C>A (p.Thr199=) | Cardiovascular phenotype [RCV002356115] | likely benign | 19 | 49168408 | 49168408 | Human | | name |
| 155698236 | CV1810994 | single nucleotide variant | NM_017636.4(TRPM4):c.606C>T (p.Asn202=) | Cardiovascular phenotype [RCV002358360]|Progressive familial heart block type IB [RCV003502647] | likely benign | 19 | 49168417 | 49168417 | Human | 1 | name |
| 155715573 | CV1812287 | single nucleotide variant | NM_017636.4(TRPM4):c.690G>A (p.Ser230=) | Cardiovascular phenotype [RCV002362338]|Progressive familial heart block type IB [RCV003502652] | likely benign | 19 | 49168630 | 49168630 | Human | 1 | name |
| 155716283 | CV1812540 | single nucleotide variant | NM_017636.4(TRPM4):c.696C>T (p.Phe232=) | Cardiovascular phenotype [RCV002362508] | likely benign | 19 | 49168636 | 49168636 | Human | | name |
| 155698949 | CV1813300 | single nucleotide variant | NM_017636.4(TRPM4):c.759G>A (p.Leu253=) | Cardiovascular phenotype [RCV002394199] | likely benign | 19 | 49168699 | 49168699 | Human | | name |
| 155671063 | CV1815573 | single nucleotide variant | NM_017636.4(TRPM4):c.714C>A (p.Gly238=) | Cardiovascular phenotype [RCV002367520] | likely benign | 19 | 49168654 | 49168654 | Human | | name |
| 155680258 | CV1815907 | single nucleotide variant | NM_017636.4(TRPM4):c.720C>T (p.His240=) | Cardiovascular phenotype [RCV002370903]|Progressive familial heart block type IB [RCV003098506] | likely benign | 19 | 49168660 | 49168660 | Human | 1 | name |
| 155747159 | CV1816695 | single nucleotide variant | NM_017636.4(TRPM4):c.789C>T (p.Gly263=) | Cardiovascular phenotype [RCV002416612] | likely benign | 19 | 49168729 | 49168729 | Human | | name |
| 155670005 | CV1819084 | single nucleotide variant | NM_017636.4(TRPM4):c.708C>T (p.Asp236=) | Cardiovascular phenotype [RCV002367264]|Progressive familial heart block type IB [RCV003502653]|TRPM4-related disorder [RCV004534070] | likely benign | 19 | 49168648 | 49168648 | Human | 1 | name , alternate_id |
| 155700554 | CV1821097 | single nucleotide variant | NM_017636.4(TRPM4):c.900C>T (p.Leu300=) | Cardiovascular phenotype [RCV002376379]|Progressive familial heart block type IB [RCV003100078] | likely benign|uncertain significance | 19 | 49171619 | 49171619 | Human | 1 | name |
| 155692006 | CV1821515 | single nucleotide variant | NM_017636.4(TRPM4):c.94G>A (p.Gly32Arg) | Cardiovascular phenotype [RCV002374134] | uncertain significance | 19 | 49166042 | 49166042 | Human | | name |
| 155728699 | CV1823378 | single nucleotide variant | NM_017636.4(TRPM4):c.768C>T (p.Tyr256=) | Cardiovascular phenotype [RCV002400518] | likely benign | 19 | 49168708 | 49168708 | Human | | name |
| 155712020 | CV1824217 | single nucleotide variant | NM_017636.4(TRPM4):c.846G>A (p.Glu282=) | Cardiovascular phenotype [RCV002447588]|Progressive familial heart block type IB [RCV003103508]|TRPM4-related disorder [RCV004534074] | likely benign | 19 | 49171406 | 49171406 | Human | 1 | name , alternate_id |
| 155678275 | CV1845325 | deletion | NM_017636.4(TRPM4):c.247del (p.Ala83fs) | Cardiovascular phenotype [RCV002455596]|Progressive familial heart block type IB [RCV003101866] | uncertain significance | 19 | 49166191 | 49166191 | Human | 1 | name |
| 156233082 | CV1885268 | single nucleotide variant | NM_017636.4(TRPM4):c.486C>T (p.Ile162=) | Cardiovascular phenotype [RCV004992483]|Progressive familial heart block type IB [RCV003085446] | likely benign | 19 | 49168297 | 49168297 | Human | 1 | name |
| 156178418 | CV1888115 | single nucleotide variant | NM_017636.4(TRPM4):c.48G>C (p.Lys16Asn) | Progressive familial heart block type IB [RCV003083475] | uncertain significance | 19 | 49158215 | 49158215 | Human | 1 | name |
| 156025193 | CV1896134 | single nucleotide variant | NM_017636.4(TRPM4):c.366G>C (p.Leu122=) | Progressive familial heart block type IB [RCV003100393] | likely benign | 19 | 49168015 | 49168015 | Human | 1 | name |
| 156369382 | CV1926789 | single nucleotide variant | NM_017636.4(TRPM4):c.534T>G (p.Thr178=) | Progressive familial heart block type IB [RCV002633253] | likely benign | 19 | 49168345 | 49168345 | Human | 1 | name |
| 156296977 | CV1955353 | duplication | NM_017636.4(TRPM4):c.107dup (p.Cys37fs) | Progressive familial heart block type IB [RCV002578054] | uncertain significance | 19 | 49166054 | 49166055 | Human | 1 | name |
| 155946988 | CV1996287 | single nucleotide variant | NM_017636.4(TRPM4):c.468G>A (p.Gly156=) | Progressive familial heart block type IB [RCV002685798] | likely benign | 19 | 49168279 | 49168279 | Human | 1 | name |
| 156017825 | CV2020445 | single nucleotide variant | NM_017636.4(TRPM4):c.83C>T (p.Thr28Ile) | Progressive familial heart block type IB [RCV002735227]|not provided [RCV004765555] | uncertain significance | 19 | 49158250 | 49158250 | Human | 1 | name |
| 156031072 | CV2036912 | single nucleotide variant | NM_017636.4(TRPM4):c.792G>C (p.Val264=) | Cardiovascular phenotype [RCV004064763]|Progressive familial heart block type IB [RCV002781112] | likely benign | 19 | 49168732 | 49168732 | Human | 1 | name |
| 156167712 | CV2056681 | single nucleotide variant | NM_017636.4(TRPM4):c.819C>T (p.Val273=) | Progressive familial heart block type IB [RCV002801856] | likely benign | 19 | 49171379 | 49171379 | Human | 1 | name |
| 156232928 | CV2112574 | single nucleotide variant | NM_017636.4(TRPM4):c.405G>A (p.Gln135=) | Cardiovascular phenotype [RCV004067048]|Progressive familial heart block type IB [RCV002932904] | likely benign | 19 | 49168054 | 49168054 | Human | 1 | name |
| 156135895 | CV2181527 | single nucleotide variant | NM_017636.4(TRPM4):c.51G>T (p.Lys17Asn) | Progressive familial heart block type IB [RCV003039863] | uncertain significance | 19 | 49158218 | 49158218 | Human | 1 | name |
| 156333259 | CV2186549 | single nucleotide variant | NM_017636.4(TRPM4):c.86A>G (p.Asp29Gly) | Progressive familial heart block type IB [RCV003063818] | uncertain significance | 19 | 49158253 | 49158253 | Human | 1 | name |
| 10767563 | CV222810 | single nucleotide variant | NM_017636.4(TRPM4):c.58T>A (p.Cys20Ser) | Progressive familial heart block type IB [RCV000204919]|not provided [RCV000786236] | uncertain significance | 19 | 49158225 | 49158225 | Human | 1 | name |
| 10767013 | CV222812 | single nucleotide variant | NM_017636.4(TRPM4):c.306T>G (p.Val102=) | Cardiovascular phenotype [RCV000621950]|Progressive familial heart block type IB [RCV000204024]|TRPM4-related disorder [RCV004530244]|not provided [RCV003422114]|not specified [RCV000422927] | benign|likely benign | 19 | 49167955 | 49167955 | Human | 1 | name , alternate_id |
| 10767685 | CV222814 | single nucleotide variant | NM_017636.4(TRPM4):c.783G>A (p.Lys261=) | Cardiovascular phenotype [RCV000618010]|Progressive familial heart block type IB [RCV000205124]|TRPM4-related disorder [RCV004541298]|not provided [RCV001812211]|not specified [RCV000430985] | benign|likely benign | 19 | 49168723 | 49168723 | Human | 1 | name , alternate_id |
| 329363651 | CV2425859 | single nucleotide variant | NM_017636.4(TRPM4):c.924G>A (p.Ala308=) | Cardiovascular phenotype [RCV003168312]|Progressive familial heart block type IB [RCV005101022] | likely benign | 19 | 49171643 | 49171643 | Human | 1 | name |
| 329391585 | CV2452944 | single nucleotide variant | NM_017636.4(TRPM4):c.30G>T (p.Trp10Cys) | Cardiovascular phenotype [RCV004277576] | uncertain significance | 19 | 49158197 | 49158197 | Human | | name |
| 11544101 | CV259034 | single nucleotide variant | NM_017636.4(TRPM4):c.618G>A (p.Ser206=) | Cardiovascular phenotype [RCV000243339]|Progressive familial heart block type IB [RCV000466483]|TRPM4-related disorder [RCV004535227]|not provided [RCV004703568]|not specified [RCV000442308] | benign|likely benign|conflicting interpretations of pathogenicity | 19 | 49168558 | 49168558 | Human | 1 | name , alternate_id |
| 11544558 | CV259035 | single nucleotide variant | NM_017636.4(TRPM4):c.597C>T (p.Thr199=) | Cardiovascular phenotype [RCV000243952] | likely benign | 19 | 49168408 | 49168408 | Human | | name |
| 401776090 | CV2724574 | single nucleotide variant | NM_017636.4(TRPM4):c.546G>A (p.Lys182=) | Cardiovascular phenotype [RCV003305844] | likely benign | 19 | 49168357 | 49168357 | Human | | name |
| 401776095 | CV2724577 | single nucleotide variant | NM_017636.4(TRPM4):c.873C>T (p.Ala291=) | Cardiovascular phenotype [RCV003305847] | likely benign | 19 | 49171592 | 49171592 | Human | | name |
| 405037201 | CV2945453 | single nucleotide variant | NM_017636.4(TRPM4):c.85G>C (p.Asp29His) | Progressive familial heart block type IB [RCV003609423] | uncertain significance | 19 | 49158252 | 49158252 | Human | 1 | name |
| 405037499 | CV2945698 | single nucleotide variant | NM_017636.4(TRPM4):c.642C>G (p.Arg214=) | Progressive familial heart block type IB [RCV003609451] | likely benign | 19 | 49168582 | 49168582 | Human | 1 | name |
| 405051959 | CV3040598 | single nucleotide variant | NM_017636.4(TRPM4):c.897C>G (p.Leu299=) | Progressive familial heart block type IB [RCV003610595] | likely benign | 19 | 49171616 | 49171616 | Human | 1 | name |
| 405053185 | CV3050028 | single nucleotide variant | NM_017636.4(TRPM4):c.480G>C (p.Thr160=) | Progressive familial heart block type IB [RCV003610720] | likely benign | 19 | 49168291 | 49168291 | Human | 1 | name |
| 405053627 | CV3053903 | single nucleotide variant | NM_017636.4(TRPM4):c.576T>C (p.Gly192=) | Progressive familial heart block type IB [RCV003610757] | likely benign | 19 | 49168387 | 49168387 | Human | 1 | name |
| 405133554 | CV3115229 | single nucleotide variant | NM_017636.4(TRPM4):c.89C>T (p.Pro30Leu) | Progressive familial heart block type IB [RCV003816074] | uncertain significance | 19 | 49158256 | 49158256 | Human | 1 | name |
| 405244573 | CV3161530 | single nucleotide variant | NM_017636.4(TRPM4):c.726C>T (p.Cys242=) | Progressive familial heart block type IB [RCV003868242] | likely benign | 19 | 49168666 | 49168666 | Human | 1 | name |
| 405729501 | CV3235481 | single nucleotide variant | NM_017636.4(TRPM4):c.480G>A (p.Thr160=) | Cardiovascular phenotype [RCV004018512]|Progressive familial heart block type IB [RCV005103371] | likely benign|uncertain significance | 19 | 49168291 | 49168291 | Human | 1 | name |
| 11613448 | CV334052 | single nucleotide variant | NM_017636.4(TRPM4):c.375G>A (p.Ser125=) | Cardiovascular phenotype [RCV000617239]|Progressive familial heart block type IB [RCV000268233]|not provided [RCV004717300]|not specified [RCV000438450] | benign|likely benign | 19 | 49168024 | 49168024 | Human | 1 | name |
| 11614891 | CV334054 | single nucleotide variant | NM_017636.4(TRPM4):c.483C>T (p.Gly161=) | Cardiovascular phenotype [RCV002328849]|Progressive familial heart block type IB [RCV000645465] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49168294 | 49168294 | Human | 1 | name |
| 11658089 | CV334065 | duplication | NM_017636.4(TRPM4):c.1050+13_1050+16dup | Progressive familial heart block [RCV000346248]|Progressive familial heart block type IB [RCV002057522]|not provided [RCV001613068]|not specified [RCV001700062] | benign|likely benign | 19 | 49171781 | 49171782 | Human | 2 | name |
| 405761505 | CV3344362 | single nucleotide variant | NM_017636.4(TRPM4):c.318C>A (p.Val106=) | Cardiovascular phenotype [RCV004468727] | uncertain significance | 19 | 49167967 | 49167967 | Human | | name |
| 405709189 | CV3381462 | single nucleotide variant | NM_017636.4(TRPM4):c.480G>T (p.Thr160=) | Cardiovascular phenotype [RCV004522196] | likely benign | 19 | 49168291 | 49168291 | Human | | name |
| 405709197 | CV3381464 | single nucleotide variant | NM_017636.4(TRPM4):c.49A>G (p.Lys17Glu) | Cardiovascular phenotype [RCV004522198]|Progressive familial heart block type IB [RCV005100598] | uncertain significance | 19 | 49158216 | 49158216 | Human | 1 | name |
| 405709209 | CV3381466 | single nucleotide variant | NM_017636.4(TRPM4):c.600C>T (p.Leu200=) | Cardiovascular phenotype [RCV004522200] | likely benign | 19 | 49168411 | 49168411 | Human | | name |
| 407527705 | CV3488841 | single nucleotide variant | NM_017636.4(TRPM4):c.651G>T (p.Pro217=) | Cardiovascular phenotype [RCV004680114] | likely benign | 19 | 49168591 | 49168591 | Human | | name |
| 597713505 | CV3622022 | single nucleotide variant | NM_017636.4(TRPM4):c.624T>C (p.Pro208=) | Cardiovascular phenotype [RCV004991039] | likely benign | 19 | 49168564 | 49168564 | Human | | name |
| 597713527 | CV3622026 | single nucleotide variant | NM_017636.4(TRPM4):c.996A>G (p.Arg332=) | Cardiovascular phenotype [RCV004991043] | likely benign | 19 | 49171715 | 49171715 | Human | | name |
| 597713582 | CV3622037 | single nucleotide variant | NM_017636.4(TRPM4):c.627G>T (p.Ala209=) | Cardiovascular phenotype [RCV004991054] | uncertain significance | 19 | 49168567 | 49168567 | Human | | name |
| 12843764 | CV377819 | single nucleotide variant | NM_017636.4(TRPM4):c.870C>T (p.Asn290=) | Cardiovascular phenotype [RCV000617666]|Progressive familial heart block type IB [RCV001000470]|not provided [RCV001721279]|not specified [RCV000436808] | benign|likely benign|conflicting interpretations of pathogenicity | 19 | 49171589 | 49171589 | Human | 1 | name |
| 597941876 | CV3785896 | single nucleotide variant | NM_017636.4(TRPM4):c.349C>T (p.Leu117=) | Progressive familial heart block type IB [RCV005133789] | likely benign | 19 | 49167998 | 49167998 | Human | 1 | name |
| 597921591 | CV3808065 | single nucleotide variant | NM_017636.4(TRPM4):c.741C>T (p.Asn247=) | Progressive familial heart block type IB [RCV005155773] | likely benign | 19 | 49168681 | 49168681 | Human | 1 | name |
| 597848212 | CV3824000 | single nucleotide variant | NM_017636.4(TRPM4):c.603C>T (p.Ile201=) | Progressive familial heart block type IB [RCV005173239] | likely benign | 19 | 49168414 | 49168414 | Human | 1 | name |
| 597845304 | CV3827602 | single nucleotide variant | NM_017636.4(TRPM4):c.855G>A (p.Leu285=) | Progressive familial heart block type IB [RCV005172873] | likely benign | 19 | 49171415 | 49171415 | Human | 1 | name |
| 597919297 | CV3861676 | single nucleotide variant | NM_017636.4(TRPM4):c.801T>C (p.Thr267=) | Progressive familial heart block type IB [RCV005204832] | likely benign | 19 | 49171361 | 49171361 | Human | 1 | name |
| 597936676 | CV3862547 | single nucleotide variant | NM_017636.4(TRPM4):c.966G>A (p.Gly322=) | Progressive familial heart block type IB [RCV005207819] | likely benign | 19 | 49171685 | 49171685 | Human | 1 | name |
| 598215272 | CV3932178 | single nucleotide variant | NM_017636.4(TRPM4):c.672C>G (p.Pro224=) | Cardiovascular phenotype [RCV005292686] | likely benign | 19 | 49168612 | 49168612 | Human | | name |
| 598236835 | CV3932180 | single nucleotide variant | NM_017636.4(TRPM4):c.633C>T (p.Tyr211=) | Cardiovascular phenotype [RCV005296115] | likely benign | 19 | 49168573 | 49168573 | Human | | name |
| 12880820 | CV403298 | single nucleotide variant | NM_017636.4(TRPM4):c.354G>C (p.Val118=) | Cardiovascular phenotype [RCV002455881]|Progressive familial heart block type IB [RCV000456719]|not provided [RCV001565738]|not specified [RCV005056041] | benign|likely benign | 19 | 49168003 | 49168003 | Human | 1 | name |
| 13503453 | CV468947 | single nucleotide variant | NM_017636.4(TRPM4):c.657C>T (p.Asp219=) | Cardiovascular phenotype [RCV002377112]|Progressive familial heart block type IB [RCV000545677]|not provided [RCV001571103] | benign|likely benign|conflicting interpretations of pathogenicity | 19 | 49168597 | 49168597 | Human | 1 | name |
| 13534765 | CV506921 | single nucleotide variant | NM_017636.4(TRPM4):c.651G>A (p.Pro217=) | Cardiovascular phenotype [RCV003160078]|Progressive familial heart block type IB [RCV005091609]|not specified [RCV000601999] | likely benign | 19 | 49168591 | 49168591 | Human | 1 | name |
| 13532040 | CV507094 | single nucleotide variant | NM_017636.4(TRPM4):c.829C>T (p.Leu277=) | not specified [RCV000601245] | likely benign | 19 | 49171389 | 49171389 | Human | | name |
| 13539193 | CV507095 | single nucleotide variant | NM_017636.4(TRPM4):c.984A>G (p.Gln328=) | not specified [RCV000612936] | likely benign | 19 | 49171703 | 49171703 | Human | | name |
| 13533461 | CV507907 | single nucleotide variant | NM_017636.4(TRPM4):c.342C>G (p.Ala114=) | Cardiovascular phenotype [RCV000617585]|Progressive familial heart block type IB [RCV001514200]|not provided [RCV001698081]|not specified [RCV005418246] | benign|likely benign | 19 | 49167991 | 49167991 | Human | 1 | name |
| 13529934 | CV510801 | duplication | NM_017636.4(TRPM4):c.247dup (p.Ala83fs) | Cardiovascular phenotype [RCV000622127]|Progressive familial heart block type IB [RCV001314383]|not provided [RCV002223881] | uncertain significance | 19 | 49166190 | 49166191 | Human | 1 | name |
| 13533180 | CV510804 | single nucleotide variant | NM_017636.4(TRPM4):c.582C>A (p.Val194=) | Cardiovascular phenotype [RCV000617205]|Progressive familial heart block type IB [RCV002491315]|Progressive familial heart block type IB [RCV005091759] | likely benign | 19 | 49168393 | 49168393 | Human | 2 | name |
| 14709692 | CV656585 | single nucleotide variant | NM_017636.4(TRPM4):c.936G>A (p.Ala312=) | Cardiovascular phenotype [RCV002372371]|Progressive familial heart block type IB [RCV001078770]|not provided [RCV000827495] | benign|likely benign | 19 | 49171655 | 49171655 | Human | 1 | name |
| 15140953 | CV742048 | single nucleotide variant | NM_017636.4(TRPM4):c.786G>T (p.Thr262=) | Cardiovascular phenotype [RCV005286247]|not provided [RCV000899408] | likely benign | 19 | 49168726 | 49168726 | Human | | name |
| 26898693 | CV847829 | single nucleotide variant | NM_017636.4(TRPM4):c.30G>A (p.Trp10Ter) | Progressive familial heart block type IB [RCV001038669] | uncertain significance | 19 | 49158197 | 49158197 | Human | 1 | name |
| 26899266 | CV847830 | single nucleotide variant | NM_017636.4(TRPM4):c.65C>T (p.Thr22Met) | Progressive familial heart block type IB [RCV001043152] | uncertain significance | 19 | 49158232 | 49158232 | Human | 1 | name |
| 28870888 | CV882300 | single nucleotide variant | NM_017636.4(TRPM4):c.837T>C (p.Asp279=) | Cardiovascular phenotype [RCV003163288]|Progressive familial heart block type IB [RCV001131450] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49171397 | 49171397 | Human | 1 | name |
| 38469508 | CV938770 | single nucleotide variant | NM_017636.4(TRPM4):c.62C>T (p.Thr21Met) | Cardiovascular phenotype [RCV004033661]|Progressive familial heart block type IB [RCV001205894] | uncertain significance | 19 | 49158229 | 49158229 | Human | 1 | name |
| 126758350 | CV1013830 | single nucleotide variant | NM_017636.4(TRPM4):c.290C>T (p.Thr97Met) | Cardiovascular phenotype [RCV003166832]|Progressive familial heart block type IB [RCV001317753] | uncertain significance | 19 | 49167939 | 49167939 | Human | 1 | name |
| 126732491 | CV1034402 | single nucleotide variant | NM_017636.4(TRPM4):c.294T>A (p.Asp98Glu) | Cardiovascular phenotype [RCV002438812]|Progressive familial heart block type IB [RCV001349612] | uncertain significance | 19 | 49167943 | 49167943 | Human | 1 | name |
| 127248798 | CV1084899 | single nucleotide variant | NM_017636.4(TRPM4):c.2886C>A (p.Ile962=) | Progressive familial heart block type IB [RCV001399476] | likely benign | 19 | 49200718 | 49200718 | Human | 1 | name |
| 127253634 | CV1084900 | single nucleotide variant | NM_017636.4(TRPM4):c.2887C>T (p.Leu963=) | Cardiovascular phenotype [RCV002438975]|Progressive familial heart block type IB [RCV001418355] | likely benign | 19 | 49200719 | 49200719 | Human | 1 | name |
| 127278784 | CV1106647 | single nucleotide variant | NM_017636.4(TRPM4):c.1569C>T (p.Gly523=) | Cardiovascular phenotype [RCV003375303]|Progressive familial heart block type IB [RCV001445317] | likely benign|uncertain significance | 19 | 49182883 | 49182883 | Human | 1 | name |
| 127242496 | CV1106648 | single nucleotide variant | NM_017636.4(TRPM4):c.1881T>C (p.Phe627=) | Cardiovascular phenotype [RCV002414007]|Progressive familial heart block type IB [RCV001423750] | likely benign | 19 | 49188953 | 49188953 | Human | 1 | name |
| 127241781 | CV1106649 | single nucleotide variant | NM_017636.4(TRPM4):c.2446C>T (p.Leu816=) | Progressive familial heart block type IB [RCV001423618] | likely benign | 19 | 49196675 | 49196675 | Human | 1 | name |
| 127238198 | CV1106650 | single nucleotide variant | NM_017636.4(TRPM4):c.2583C>T (p.Ala861=) | Cardiovascular phenotype [RCV002456689]|Progressive familial heart block type IB [RCV001422836]|not specified [RCV005405599] | likely benign | 19 | 49196812 | 49196812 | Human | 1 | name |
| 127244657 | CV1106651 | single nucleotide variant | NM_017636.4(TRPM4):c.2733G>C (p.Thr911=) | Cardiovascular phenotype [RCV004681178]|Progressive familial heart block type IB [RCV001435086] | likely benign | 19 | 49200387 | 49200387 | Human | 1 | name |
| 127312769 | CV1128037 | single nucleotide variant | NM_017636.4(TRPM4):c.1167G>A (p.Glu389=) | Cardiovascular phenotype [RCV004995842]|Progressive familial heart block type IB [RCV001457227] | likely benign | 19 | 49181365 | 49181365 | Human | 1 | name |
| 127294016 | CV1128038 | single nucleotide variant | NM_017636.4(TRPM4):c.1365G>C (p.Leu455=) | Progressive familial heart block type IB [RCV001459334] | likely benign | 19 | 49182679 | 49182679 | Human | 1 | name |
| 127293375 | CV1128040 | single nucleotide variant | NM_017636.4(TRPM4):c.2715G>A (p.Arg905=) | Progressive familial heart block type IB [RCV001476582] | likely benign | 19 | 49200369 | 49200369 | Human | 1 | name |
| 127322463 | CV1128041 | single nucleotide variant | NM_017636.4(TRPM4):c.2838G>C (p.Val946=) | Cardiovascular phenotype [RCV002439111]|Progressive familial heart block type IB [RCV001467596] | likely benign | 19 | 49200670 | 49200670 | Human | 1 | name |
| 127291006 | CV1128042 | single nucleotide variant | NM_017636.4(TRPM4):c.2937C>G (p.Pro979=) | Cardiovascular phenotype [RCV002439084]|Progressive familial heart block type IB [RCV001458586]|not provided [RCV001580596] | likely benign | 19 | 49200769 | 49200769 | Human | 1 | name |
| 127326713 | CV1148994 | single nucleotide variant | NM_017636.4(TRPM4):c.1953T>C (p.Asp651=) | Cardiovascular phenotype [RCV002421160]|Progressive familial heart block type IB [RCV001506387] | likely benign | 19 | 49189025 | 49189025 | Human | 1 | name |
| 127304565 | CV1148995 | single nucleotide variant | NM_017636.4(TRPM4):c.2436C>T (p.Ser812=) | Cardiovascular phenotype [RCV004037195]|Progressive familial heart block type IB [RCV001479535] | likely benign | 19 | 49196665 | 49196665 | Human | 1 | name |
| 150418179 | CV1181787 | single nucleotide variant | NM_017636.4(TRPM4):c.1380G>T (p.Leu460=) | Cardiovascular phenotype [RCV004681222]|Progressive familial heart block type IB [RCV002072040]|not provided [RCV001550489] | likely benign|uncertain significance | 19 | 49182694 | 49182694 | Human | 1 | name |
| 151352356 | CV1321301 | single nucleotide variant | NM_017636.4(TRPM4):c.1944C>G (p.Leu648=) | not provided [RCV001811759] | likely benign | 19 | 49189016 | 49189016 | Human | | name |
| 151723494 | CV1356798 | single nucleotide variant | NM_017636.4(TRPM4):c.2733G>A (p.Thr911=) | Cardiovascular phenotype [RCV002441121]|Progressive familial heart block type IB [RCV001966297]|Progressive familial heart block type IB [RCV002497906] | likely benign|uncertain significance | 19 | 49200387 | 49200387 | Human | 2 | name |
| 151888130 | CV1434090 | single nucleotide variant | NM_017636.4(TRPM4):c.172G>A (p.Val58Met) | Progressive familial heart block type IB [RCV002038336] | uncertain significance | 19 | 49166120 | 49166120 | Human | 1 | name |
| 151712337 | CV1489550 | single nucleotide variant | NM_017636.4(TRPM4):c.184G>A (p.Asp62Asn) | Cardiovascular phenotype [RCV002407010]|Progressive familial heart block type IB [RCV001889640] | uncertain significance | 19 | 49166132 | 49166132 | Human | 1 | name |
| 151785912 | CV1495362 | single nucleotide variant | NM_017636.4(TRPM4):c.121C>T (p.Arg41Trp) | Cardiovascular phenotype [RCV002361404]|Progressive familial heart block type IB [RCV002026710] | uncertain significance | 19 | 49166069 | 49166069 | Human | 1 | name |
| 152043220 | CV1522361 | single nucleotide variant | NM_017636.4(TRPM4):c.1275C>T (p.Leu425=) | Cardiovascular phenotype [RCV002372890]|Progressive familial heart block type IB [RCV002088231] | likely benign | 19 | 49182589 | 49182589 | Human | 1 | name |
| 152106371 | CV1527356 | single nucleotide variant | NM_017636.4(TRPM4):c.1620C>T (p.Leu540=) | Cardiovascular phenotype [RCV002398258]|Progressive familial heart block type IB [RCV002079664] | likely benign | 19 | 49183089 | 49183089 | Human | 1 | name |
| 152158957 | CV1529154 | single nucleotide variant | NM_017636.4(TRPM4):c.2205T>C (p.Pro735=) | Cardiovascular phenotype [RCV004681458]|Progressive familial heart block type IB [RCV002159289]|Progressive familial heart block type IB [RCV002481009] | likely benign | 19 | 49190768 | 49190768 | Human | 2 | name |
| 152027591 | CV1529495 | single nucleotide variant | NM_017636.4(TRPM4):c.2541T>G (p.Pro847=) | Progressive familial heart block type IB [RCV002185553] | likely benign | 19 | 49196770 | 49196770 | Human | 1 | name |
| 152157965 | CV1542135 | single nucleotide variant | NM_017636.4(TRPM4):c.2976C>T (p.Asn992=) | Progressive familial heart block type IB [RCV002202929]|not provided [RCV003443004] | likely benign|uncertain significance | 19 | 49201986 | 49201986 | Human | 1 | name |
| 152026427 | CV1550278 | single nucleotide variant | NM_017636.4(TRPM4):c.1311G>A (p.Arg437=) | Progressive familial heart block type IB [RCV002185151] | likely benign | 19 | 49182625 | 49182625 | Human | 1 | name |
| 152075262 | CV1551155 | single nucleotide variant | NM_017636.4(TRPM4):c.2292G>C (p.Gly764=) | Progressive familial heart block type IB [RCV002192325] | likely benign | 19 | 49196521 | 49196521 | Human | 1 | name |
| 152139424 | CV1555065 | single nucleotide variant | NM_017636.4(TRPM4):c.2136A>G (p.Lys712=) | Cardiovascular phenotype [RCV003303735]|Progressive familial heart block type IB [RCV002200383] | likely benign|uncertain significance | 19 | 49190699 | 49190699 | Human | 1 | name |
| 152060871 | CV1557449 | single nucleotide variant | NM_017636.4(TRPM4):c.2430C>T (p.Pro810=) | Progressive familial heart block type IB [RCV002146758] | likely benign | 19 | 49196659 | 49196659 | Human | 1 | name |
| 152097218 | CV1558114 | single nucleotide variant | NM_017636.4(TRPM4):c.1494C>T (p.Leu498=) | Cardiovascular phenotype [RCV002391163]|Progressive familial heart block type IB [RCV002172623] | likely benign | 19 | 49182808 | 49182808 | Human | 1 | name |
| 152139644 | CV1562854 | single nucleotide variant | NM_017636.4(TRPM4):c.1443C>A (p.Ser481=) | Progressive familial heart block type IB [RCV002100593] | likely benign | 19 | 49182757 | 49182757 | Human | 1 | name |
| 152077686 | CV1564720 | single nucleotide variant | NM_017636.4(TRPM4):c.1464C>A (p.Ala488=) | Progressive familial heart block type IB [RCV002192630] | likely benign | 19 | 49182778 | 49182778 | Human | 1 | name |
| 152084710 | CV1569800 | single nucleotide variant | NM_017636.4(TRPM4):c.2202G>A (p.Gly734=) | Progressive familial heart block type IB [RCV002113228] | likely benign | 19 | 49190765 | 49190765 | Human | 1 | name |
| 152031803 | CV1571933 | single nucleotide variant | NM_017636.4(TRPM4):c.2787C>T (p.Asp929=) | Cardiovascular phenotype [RCV004681424]|Progressive familial heart block type IB [RCV002186774]|not provided [RCV004704689] | likely benign | 19 | 49200619 | 49200619 | Human | 1 | name |
| 152172078 | CV1575717 | single nucleotide variant | NM_017636.4(TRPM4):c.2268G>A (p.Pro756=) | Cardiovascular phenotype [RCV002443261]|Progressive familial heart block type IB [RCV002183721] | likely benign | 19 | 49196497 | 49196497 | Human | 1 | name |
| 152044693 | CV1590582 | single nucleotide variant | NM_017636.4(TRPM4):c.1941G>A (p.Pro647=) | Progressive familial heart block type IB [RCV002108200] | likely benign | 19 | 49189013 | 49189013 | Human | 1 | name |
| 152107025 | CV1591866 | single nucleotide variant | NM_017636.4(TRPM4):c.2232G>A (p.Lys744=) | Progressive familial heart block type IB [RCV002214953] | likely benign | 19 | 49196461 | 49196461 | Human | 1 | name |
| 152091804 | CV1594355 | single nucleotide variant | NM_017636.4(TRPM4):c.2214G>T (p.Thr738=) | Cardiovascular phenotype [RCV002416514]|Progressive familial heart block type IB [RCV002171921] | likely benign | 19 | 49196443 | 49196443 | Human | 1 | name |
| 152064090 | CV1606647 | single nucleotide variant | NM_017636.4(TRPM4):c.1893T>C (p.Tyr631=) | Cardiovascular phenotype [RCV004045579]|Progressive familial heart block type IB [RCV002209074]|Progressive familial heart block type IB [RCV002494101] | likely benign | 19 | 49188965 | 49188965 | Human | 2 | name |
| 152133600 | CV1607505 | single nucleotide variant | NM_017636.4(TRPM4):c.1119C>T (p.Phe373=) | Progressive familial heart block type IB [RCV002119398] | likely benign | 19 | 49172077 | 49172077 | Human | 1 | name |
| 152162075 | CV1608748 | single nucleotide variant | NM_017636.4(TRPM4):c.2259G>C (p.Ser753=) | Progressive familial heart block type IB [RCV002103989] | likely benign | 19 | 49196488 | 49196488 | Human | 1 | name |
| 152164912 | CV1611204 | single nucleotide variant | NM_017636.4(TRPM4):c.1401G>A (p.Ala467=) | Progressive familial heart block type IB [RCV002141619] | likely benign | 19 | 49182715 | 49182715 | Human | 1 | name |
| 152165900 | CV1612755 | single nucleotide variant | NM_017636.4(TRPM4):c.1363C>T (p.Leu455=) | Progressive familial heart block type IB [RCV002160538] | likely benign | 19 | 49182677 | 49182677 | Human | 1 | name |
| 152135134 | CV1613491 | single nucleotide variant | NM_017636.4(TRPM4):c.1986C>T (p.Asp662=) | Cardiovascular phenotype [RCV002416508]|Progressive familial heart block type IB [RCV002156038] | likely benign | 19 | 49189058 | 49189058 | Human | 1 | name |
| 152140217 | CV1613818 | single nucleotide variant | NM_017636.4(TRPM4):c.1665G>A (p.Gly555=) | Cardiovascular phenotype [RCV005288730]|Progressive familial heart block type IB [RCV002084058] | likely benign | 19 | 49183134 | 49183134 | Human | 1 | name |
| 152049011 | CV1615881 | single nucleotide variant | NM_017636.4(TRPM4):c.1566G>A (p.Gly522=) | Progressive familial heart block type IB [RCV002166626]|TRPM4-related disorder [RCV004531524] | likely benign | 19 | 49182880 | 49182880 | Human | 1 | name , alternate_id |
| 152034586 | CV1621623 | single nucleotide variant | NM_017636.4(TRPM4):c.1113G>A (p.Glu371=) | Progressive familial heart block type IB [RCV002205372] | likely benign | 19 | 49172071 | 49172071 | Human | 1 | name |
| 152161704 | CV1622198 | single nucleotide variant | NM_017636.4(TRPM4):c.1293C>T (p.Asp431=) | Cardiovascular phenotype [RCV002382463]|Progressive familial heart block type IB [RCV002203545] | likely benign | 19 | 49182607 | 49182607 | Human | 1 | name |
| 152043790 | CV1624450 | single nucleotide variant | NM_017636.4(TRPM4):c.2769G>A (p.Val923=) | Cardiovascular phenotype [RCV004046588]|Progressive familial heart block type IB [RCV002126426] | likely benign|uncertain significance | 19 | 49200423 | 49200423 | Human | 1 | name |
| 152151811 | CV1626630 | single nucleotide variant | NM_017636.4(TRPM4):c.2916G>T (p.Leu972=) | Cardiovascular phenotype [RCV003382829]|Progressive familial heart block type IB [RCV002202086] | likely benign | 19 | 49200748 | 49200748 | Human | 1 | name |
| 152161761 | CV1635628 | single nucleotide variant | NM_017636.4(TRPM4):c.1869C>A (p.Gly623=) | Cardiovascular phenotype [RCV002409615]|Progressive familial heart block type IB [RCV002203554] | likely benign | 19 | 49188766 | 49188766 | Human | 1 | name |
| 152107881 | CV1643378 | single nucleotide variant | NM_017636.4(TRPM4):c.2811C>T (p.Leu937=) | Cardiovascular phenotype [RCV002434491]|Progressive familial heart block type IB [RCV002096432] | likely benign | 19 | 49200643 | 49200643 | Human | 1 | name |
| 152115927 | CV1646414 | single nucleotide variant | NM_017636.4(TRPM4):c.2757G>A (p.Lys919=) | Cardiovascular phenotype [RCV004046344]|Progressive familial heart block type IB [RCV002135093] | likely benign | 19 | 49200411 | 49200411 | Human | 1 | name |
| 152088066 | CV1655548 | single nucleotide variant | NM_017636.4(TRPM4):c.2076C>T (p.Ala692=) | Progressive familial heart block type IB [RCV002193911] | likely benign | 19 | 49190264 | 49190264 | Human | 1 | name |
| 152050063 | CV1656356 | single nucleotide variant | NM_017636.4(TRPM4):c.1212C>T (p.Asn404=) | Cardiovascular phenotype [RCV002352808]|Progressive familial heart block type IB [RCV002207407] | likely benign | 19 | 49181410 | 49181410 | Human | 1 | name |
| 152073794 | CV1660461 | single nucleotide variant | NM_017636.4(TRPM4):c.2931G>A (p.Gln977=) | Progressive familial heart block type IB [RCV002169634] | likely benign | 19 | 49200763 | 49200763 | Human | 1 | name |
| 152068685 | CV1662333 | single nucleotide variant | NM_017636.4(TRPM4):c.2754C>G (p.Pro918=) | Cardiovascular phenotype [RCV002434477]|Progressive familial heart block type IB [RCV002111151]|TRPM4-related disorder [RCV004531354] | likely benign | 19 | 49200408 | 49200408 | Human | 1 | name , alternate_id |
| 152034093 | CV1669451 | deletion | NM_017636.4(TRPM4):c.380del (p.Gly127fs) | Progressive familial heart block type IB [RCV003093876]|not provided [RCV002223442] | uncertain significance | 19 | 49168024 | 49168024 | Human | 1 | name |
| 155673632 | CV1774254 | single nucleotide variant | NM_017636.4(TRPM4):c.178G>C (p.Val60Leu) | Progressive familial heart block type IB [RCV002297663] | uncertain significance | 19 | 49166126 | 49166126 | Human | 1 | name |
| 155683746 | CV1776832 | single nucleotide variant | NM_017636.4(TRPM4):c.101T>G (p.Leu34Trp) | Progressive familial heart block type IB [RCV002298368] | uncertain significance | 19 | 49166049 | 49166049 | Human | 1 | name |
| 155664791 | CV1795484 | single nucleotide variant | NM_017636.4(TRPM4):c.1140C>T (p.Ala380=) | Cardiovascular phenotype [RCV002452119] | likely benign | 19 | 49172098 | 49172098 | Human | | name |
| 155717403 | CV1822961 | duplication | NM_017636.4(TRPM4):c.734dup (p.Glu246fs) | Cardiovascular phenotype [RCV002380240] | uncertain significance | 19 | 49168668 | 49168669 | Human | | name |
| 155732045 | CV1826352 | single nucleotide variant | NM_017636.4(TRPM4):c.1353G>A (p.Leu451=) | Cardiovascular phenotype [RCV002383308]|Progressive familial heart block type IB [RCV003609233] | likely benign | 19 | 49182667 | 49182667 | Human | 1 | name |
| 155713200 | CV1828115 | single nucleotide variant | NM_017636.4(TRPM4):c.1668G>A (p.Gln556=) | Cardiovascular phenotype [RCV002403935] | likely benign | 19 | 49183137 | 49183137 | Human | | name |
| 155708976 | CV1832589 | single nucleotide variant | NM_017636.4(TRPM4):c.1386A>G (p.Gln462=) | Cardiovascular phenotype [RCV002396527]|Progressive familial heart block type IB [RCV005097486] | likely benign | 19 | 49182700 | 49182700 | Human | 1 | name |
| 155701900 | CV1833008 | single nucleotide variant | NM_017636.4(TRPM4):c.145A>C (p.Met49Leu) | Cardiovascular phenotype [RCV002394769] | uncertain significance | 19 | 49166093 | 49166093 | Human | | name |
| 155731454 | CV1834784 | single nucleotide variant | NM_017636.4(TRPM4):c.1785G>A (p.Leu595=) | Cardiovascular phenotype [RCV002407716] | likely benign | 19 | 49188682 | 49188682 | Human | | name |
| 155746866 | CV1835340 | single nucleotide variant | NM_017636.4(TRPM4):c.1884C>T (p.Gly628=) | Cardiovascular phenotype [RCV002415361] | likely benign | 19 | 49188956 | 49188956 | Human | | name |
| 155721080 | CV1835877 | single nucleotide variant | NM_017636.4(TRPM4):c.1302G>A (p.Leu434=) | Cardiovascular phenotype [RCV002380879] | likely benign | 19 | 49182616 | 49182616 | Human | | name |
| 155733399 | CV1836103 | single nucleotide variant | NM_017636.4(TRPM4):c.1368C>A (p.Thr456=) | Cardiovascular phenotype [RCV002383621]|Progressive familial heart block type IB [RCV003095040] | likely benign | 19 | 49182682 | 49182682 | Human | 1 | name |
| 155702321 | CV1837597 | single nucleotide variant | NM_017636.4(TRPM4):c.160G>A (p.Gly54Arg) | Cardiovascular phenotype [RCV002394819] | uncertain significance | 19 | 49166108 | 49166108 | Human | | name |
| 155743758 | CV1838623 | single nucleotide variant | NM_017636.4(TRPM4):c.1848G>A (p.Ala616=) | Cardiovascular phenotype [RCV002412963] | likely benign | 19 | 49188745 | 49188745 | Human | | name |
| 155746097 | CV1838959 | single nucleotide variant | NM_017636.4(TRPM4):c.1869C>T (p.Gly623=) | Cardiovascular phenotype [RCV002415030] | likely benign | 19 | 49188766 | 49188766 | Human | | name |
| 155696257 | CV1840974 | single nucleotide variant | NM_017636.4(TRPM4):c.226G>A (p.Gly76Arg) | Cardiovascular phenotype [RCV002443869] | uncertain significance | 19 | 49166174 | 49166174 | Human | | name |
| 155705799 | CV1841150 | single nucleotide variant | NM_017636.4(TRPM4):c.2280G>A (p.Gly760=) | Cardiovascular phenotype [RCV002446084]|Progressive familial heart block type IB [RCV005098048]|not specified [RCV005405916] | likely benign | 19 | 49196509 | 49196509 | Human | 1 | name |
| 155722579 | CV1841970 | single nucleotide variant | NM_017636.4(TRPM4):c.250G>T (p.Gly84Cys) | Cardiovascular phenotype [RCV002432927] | uncertain significance | 19 | 49166198 | 49166198 | Human | | name |
| 155733845 | CV1842718 | single nucleotide variant | NM_017636.4(TRPM4):c.1902T>C (p.Ser634=) | Cardiovascular phenotype [RCV002408289] | likely benign | 19 | 49188974 | 49188974 | Human | | name |
| 155725704 | CV1845008 | single nucleotide variant | NM_017636.4(TRPM4):c.236A>G (p.Asp79Gly) | Cardiovascular phenotype [RCV002450161]|Progressive familial heart block type IB [RCV003101763]|not provided [RCV004725281] | uncertain significance | 19 | 49166184 | 49166184 | Human | 1 | name |
| 155712186 | CV1845393 | single nucleotide variant | NM_017636.4(TRPM4):c.2484A>G (p.Glu828=) | Cardiovascular phenotype [RCV002430828] | likely benign | 19 | 49196713 | 49196713 | Human | | name |
| 155691098 | CV1847295 | single nucleotide variant | NM_017636.4(TRPM4):c.2217G>A (p.Ala739=) | Cardiovascular phenotype [RCV002425942]|Progressive familial heart block type IB [RCV005058755] | likely benign | 19 | 49196446 | 49196446 | Human | 1 | name |
| 155684938 | CV1850837 | single nucleotide variant | NM_017636.4(TRPM4):c.2295G>A (p.Gly765=) | Cardiovascular phenotype [RCV002457507]|Progressive familial heart block type IB [RCV005098055] | likely benign | 19 | 49196524 | 49196524 | Human | 1 | name |
| 155693352 | CV1851388 | single nucleotide variant | NM_017636.4(TRPM4):c.2421G>A (p.Pro807=) | Cardiovascular phenotype [RCV002459797]|Progressive familial heart block type IB [RCV003101798] | likely benign | 19 | 49196650 | 49196650 | Human | 1 | name |
| 155693436 | CV1851422 | single nucleotide variant | NM_017636.4(TRPM4):c.2424G>A (p.Ala808=) | Cardiovascular phenotype [RCV002459816] | likely benign | 19 | 49196653 | 49196653 | Human | | name |
| 155693862 | CV1851524 | single nucleotide variant | NM_017636.4(TRPM4):c.2430C>G (p.Pro810=) | Cardiovascular phenotype [RCV002459884] | likely benign | 19 | 49196659 | 49196659 | Human | | name |
| 155686740 | CV1852690 | single nucleotide variant | NM_017636.4(TRPM4):c.2805C>T (p.Phe935=) | Cardiovascular phenotype [RCV002441629]|Progressive familial heart block type IB [RCV005098295] | likely benign|uncertain significance | 19 | 49200637 | 49200637 | Human | 1 | name |
| 155665632 | CV1855436 | single nucleotide variant | NM_017636.4(TRPM4):c.2853C>T (p.Leu951=) | Cardiovascular phenotype [RCV002435392]|not provided [RCV004546732] | likely benign | 19 | 49200685 | 49200685 | Human | | name |
| 155666263 | CV1856669 | single nucleotide variant | NM_017636.4(TRPM4):c.2991C>T (p.Pro997=) | Cardiovascular phenotype [RCV002435501]|Progressive familial heart block type IB [RCV003102954]|not provided [RCV004703274] | likely benign | 19 | 49202001 | 49202001 | Human | 1 | name |
| 156324894 | CV1871099 | single nucleotide variant | NM_017636.4(TRPM4):c.2280G>T (p.Gly760=) | Progressive familial heart block type IB [RCV003063331] | likely benign | 19 | 49196509 | 49196509 | Human | 1 | name |
| 156352322 | CV1883354 | single nucleotide variant | NM_017636.4(TRPM4):c.254G>A (p.Arg85His) | Progressive familial heart block type IB [RCV003091077] | uncertain significance | 19 | 49166202 | 49166202 | Human | 1 | name |
| 156405089 | CV1883705 | single nucleotide variant | NM_017636.4(TRPM4):c.1950G>A (p.Gly650=) | Cardiovascular phenotype [RCV004071878]|Progressive familial heart block type IB [RCV003069912] | likely benign | 19 | 49189022 | 49189022 | Human | 1 | name |
| 155962240 | CV1885025 | single nucleotide variant | NM_017636.4(TRPM4):c.2718G>A (p.Leu906=) | Progressive familial heart block type IB [RCV003074746] | likely benign | 19 | 49200372 | 49200372 | Human | 1 | name |
| 156191861 | CV1892994 | single nucleotide variant | NM_017636.4(TRPM4):c.2607A>G (p.Leu869=) | Cardiovascular phenotype [RCV004676134]|Progressive familial heart block type IB [RCV003083898] | likely benign | 19 | 49196836 | 49196836 | Human | 1 | name |
| 156209201 | CV1902277 | single nucleotide variant | NM_017636.4(TRPM4):c.2304C>T (p.Cys768=) | Progressive familial heart block type IB [RCV003084526] | likely benign | 19 | 49196533 | 49196533 | Human | 1 | name |
| 156412507 | CV1904465 | single nucleotide variant | NM_017636.4(TRPM4):c.2562G>A (p.Gln854=) | Progressive familial heart block type IB [RCV002587843] | likely benign | 19 | 49196791 | 49196791 | Human | 1 | name |
| 156031428 | CV1923296 | single nucleotide variant | NM_017636.4(TRPM4):c.2274C>T (p.Cys758=) | Progressive familial heart block type IB [RCV002637180] | likely benign | 19 | 49196503 | 49196503 | Human | 1 | name |
| 156378754 | CV1927329 | single nucleotide variant | NM_017636.4(TRPM4):c.2394G>A (p.Ser798=) | Progressive familial heart block type IB [RCV002634088] | likely benign | 19 | 49196623 | 49196623 | Human | 1 | name |
| 156303448 | CV1934587 | single nucleotide variant | NM_017636.4(TRPM4):c.1497G>A (p.Arg499=) | Progressive familial heart block type IB [RCV002647759] | likely benign | 19 | 49182811 | 49182811 | Human | 1 | name |
| 156447568 | CV1942295 | single nucleotide variant | NM_017636.4(TRPM4):c.1443C>G (p.Ser481=) | Progressive familial heart block type IB [RCV003119106] | likely benign | 19 | 49182757 | 49182757 | Human | 1 | name |
| 156440631 | CV1943687 | single nucleotide variant | NM_017636.4(TRPM4):c.2802C>T (p.Leu934=) | Progressive familial heart block type IB [RCV003110667] | uncertain significance | 19 | 49200634 | 49200634 | Human | 1 | name |
| 156441546 | CV1944209 | single nucleotide variant | NM_017636.4(TRPM4):c.181T>A (p.Trp61Arg) | Progressive familial heart block type IB [RCV003111873] | uncertain significance | 19 | 49166129 | 49166129 | Human | 1 | name |
| 156446164 | CV1951198 | single nucleotide variant | NM_017636.4(TRPM4):c.2319C>T (p.Phe773=) | Cardiovascular phenotype [RCV003294633]|Progressive familial heart block type IB [RCV003117130] | likely benign | 19 | 49196548 | 49196548 | Human | 1 | name |
| 156235480 | CV1952760 | single nucleotide variant | NM_017636.4(TRPM4):c.2682C>T (p.Val894=) | Progressive familial heart block type IB [RCV002576036] | likely benign | 19 | 49200336 | 49200336 | Human | 1 | name |
| 156352576 | CV1985748 | single nucleotide variant | NM_017636.4(TRPM4):c.2673C>T (p.Gly891=) | Progressive familial heart block type IB [RCV002632085] | likely benign | 19 | 49200327 | 49200327 | Human | 1 | name |
| 156105792 | CV1992243 | single nucleotide variant | NM_017636.4(TRPM4):c.2226C>T (p.Ala742=) | Progressive familial heart block type IB [RCV002622381] | likely benign | 19 | 49196455 | 49196455 | Human | 1 | name |
| 156375240 | CV2003996 | single nucleotide variant | NM_017636.4(TRPM4):c.1335T>C (p.Ile445=) | Progressive familial heart block type IB [RCV002653241] | likely benign | 19 | 49182649 | 49182649 | Human | 1 | name |
| 156103412 | CV2011709 | single nucleotide variant | NM_017636.4(TRPM4):c.248C>G (p.Ala83Gly) | Progressive familial heart block type IB [RCV002695392] | uncertain significance | 19 | 49166196 | 49166196 | Human | 1 | name |
| 156033394 | CV2029885 | single nucleotide variant | NM_017636.4(TRPM4):c.2226C>A (p.Ala742=) | Progressive familial heart block type IB [RCV002735896] | likely benign | 19 | 49196455 | 49196455 | Human | 1 | name |
| 156027850 | CV2039696 | single nucleotide variant | NM_017636.4(TRPM4):c.2535C>T (p.Pro845=) | Progressive familial heart block type IB [RCV002780982] | likely benign | 19 | 49196764 | 49196764 | Human | 1 | name |
| 156017337 | CV2044180 | single nucleotide variant | NM_017636.4(TRPM4):c.2532C>A (p.Gly844=) | Progressive familial heart block type IB [RCV002795413] | likely benign | 19 | 49196761 | 49196761 | Human | 1 | name |
| 156079459 | CV2053785 | single nucleotide variant | NM_017636.4(TRPM4):c.1518G>C (p.Val506=) | Progressive familial heart block type IB [RCV002823805] | likely benign | 19 | 49182832 | 49182832 | Human | 1 | name |
| 156060602 | CV2069215 | single nucleotide variant | NM_017636.4(TRPM4):c.2196G>A (p.Gly732=) | Progressive familial heart block type IB [RCV002846759] | likely benign | 19 | 49190759 | 49190759 | Human | 1 | name |
| 156317138 | CV2071107 | duplication | NM_017636.4(TRPM4):c.521dup (p.Met175fs) | Progressive familial heart block type IB [RCV002834471] | uncertain significance | 19 | 49168331 | 49168332 | Human | 1 | name |
| 156128018 | CV2100690 | single nucleotide variant | NM_017636.4(TRPM4):c.2751G>A (p.Gly917=) | Progressive familial heart block type IB [RCV002889831] | likely benign | 19 | 49200405 | 49200405 | Human | 1 | name |
| 156115548 | CV2117517 | single nucleotide variant | NM_017636.4(TRPM4):c.2532C>T (p.Gly844=) | Progressive familial heart block type IB [RCV002953292] | likely benign | 19 | 49196761 | 49196761 | Human | 1 | name |
| 156308780 | CV2123279 | single nucleotide variant | NM_017636.4(TRPM4):c.2250G>A (p.Pro750=) | Progressive familial heart block type IB [RCV002962498] | likely benign | 19 | 49196479 | 49196479 | Human | 1 | name |
| 156225530 | CV2144477 | single nucleotide variant | NM_017636.4(TRPM4):c.2055C>G (p.Ala685=) | Cardiovascular phenotype [RCV004068504]|Progressive familial heart block type IB [RCV003007545] | likely benign | 19 | 49190243 | 49190243 | Human | 1 | name |
| 156129648 | CV2155716 | single nucleotide variant | NM_017636.4(TRPM4):c.1944C>A (p.Leu648=) | Progressive familial heart block type IB [RCV003003307] | likely benign | 19 | 49189016 | 49189016 | Human | 1 | name |
| 155989151 | CV2160006 | single nucleotide variant | NM_017636.4(TRPM4):c.1137G>A (p.Lys379=) | Progressive familial heart block type IB [RCV003034246] | likely benign | 19 | 49172095 | 49172095 | Human | 1 | name |
| 156006428 | CV2162962 | single nucleotide variant | NM_017636.4(TRPM4):c.1458C>A (p.Thr486=) | Progressive familial heart block type IB [RCV003017517] | likely benign | 19 | 49182772 | 49182772 | Human | 1 | name |
| 156073325 | CV2172759 | single nucleotide variant | NM_017636.4(TRPM4):c.1500C>T (p.Pro500=) | Cardiovascular phenotype [RCV004990981]|Progressive familial heart block type IB [RCV003053785] | likely benign | 19 | 49182814 | 49182814 | Human | 1 | name |
| 155977709 | CV2246906 | single nucleotide variant | NM_017636.4(TRPM4):c.271C>T (p.Leu91Phe) | Cardiovascular phenotype [RCV004112707] | uncertain significance | 19 | 49167920 | 49167920 | Human | | name |
| 329364623 | CV2425865 | single nucleotide variant | NM_017636.4(TRPM4):c.2706C>T (p.Phe902=) | Cardiovascular phenotype [RCV003181822]|Progressive familial heart block type IB [RCV003778973] | likely benign | 19 | 49200360 | 49200360 | Human | 1 | name |
| 11348673 | CV243377 | single nucleotide variant | NM_017636.4(TRPM4):c.1368C>G (p.Thr456=) | Cardiovascular phenotype [RCV000620174]|Progressive familial heart block type IB [RCV000999846]|not provided [RCV001722262]|not specified [RCV000420786] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49182682 | 49182682 | Human | 1 | name |
| 11346649 | CV243378 | single nucleotide variant | NM_017636.4(TRPM4):c.1380G>C (p.Leu460=) | Cardiovascular phenotype [RCV002379018]|Progressive familial heart block type IB [RCV000229266]|not provided [RCV001707563] | likely benign | 19 | 49182694 | 49182694 | Human | 1 | name |
| 329390150 | CV2465714 | single nucleotide variant | NM_017636.4(TRPM4):c.2112C>T (p.Tyr704=) | Cardiovascular phenotype [RCV003216619]|Progressive familial heart block type IB [RCV003502712] | likely benign | 19 | 49190300 | 49190300 | Human | 1 | name |
| 11543438 | CV259037 | single nucleotide variant | NM_017636.4(TRPM4):c.2934T>C (p.Ile978=) | Cardiovascular phenotype [RCV000242456]|Progressive familial heart block type IB [RCV000456969]|not provided [RCV004703567]|not specified [RCV000428549] | benign|likely benign | 19 | 49200766 | 49200766 | Human | 1 | name |
| 11549417 | CV259047 | single nucleotide variant | NM_017636.4(TRPM4):c.1323G>T (p.Val441=) | Cardiovascular phenotype [RCV000250397]|Progressive familial heart block type IB [RCV002059036]|not provided [RCV001753736] | likely benign | 19 | 49182637 | 49182637 | Human | 1 | name |
| 329951963 | CV2668709 | single nucleotide variant | NM_017636.4(TRPM4):c.1356C>T (p.Gly452=) | Progressive familial heart block type IB [RCV003502714]|not specified [RCV003230790] | likely benign | 19 | 49182670 | 49182670 | Human | 1 | name |
| 401765989 | CV2724558 | single nucleotide variant | NM_017636.4(TRPM4):c.2817G>A (p.Val939=) | Cardiovascular phenotype [RCV003301660] | likely benign | 19 | 49200649 | 49200649 | Human | | name |
| 401765995 | CV2724561 | single nucleotide variant | NM_017636.4(TRPM4):c.1341C>T (p.His447=) | Cardiovascular phenotype [RCV003301663] | likely benign | 19 | 49182655 | 49182655 | Human | | name |
| 401766000 | CV2724564 | single nucleotide variant | NM_017636.4(TRPM4):c.2259G>T (p.Ser753=) | Cardiovascular phenotype [RCV003301666]|Progressive familial heart block type IB [RCV003609277] | likely benign | 19 | 49196488 | 49196488 | Human | 1 | name |
| 401766012 | CV2724569 | single nucleotide variant | NM_017636.4(TRPM4):c.2634C>T (p.Gly878=) | Cardiovascular phenotype [RCV003301671] | likely benign | 19 | 49196863 | 49196863 | Human | | name |
| 401776094 | CV2724576 | single nucleotide variant | NM_017636.4(TRPM4):c.1863G>C (p.Gly621=) | Cardiovascular phenotype [RCV003305846] | likely benign | 19 | 49188760 | 49188760 | Human | | name |
| 401868899 | CV2784095 | single nucleotide variant | NM_017636.4(TRPM4):c.1191G>A (p.Leu397=) | Cardiovascular phenotype [RCV003380384] | likely benign | 19 | 49181389 | 49181389 | Human | | name |
| 401868903 | CV2784097 | single nucleotide variant | NM_017636.4(TRPM4):c.116G>A (p.Arg39His) | Cardiovascular phenotype [RCV003380386] | uncertain significance | 19 | 49166064 | 49166064 | Human | | name |
| 401868904 | CV2784098 | single nucleotide variant | NM_017636.4(TRPM4):c.1189C>T (p.Leu397=) | Cardiovascular phenotype [RCV003380387] | likely benign | 19 | 49181387 | 49181387 | Human | | name |
| 401868907 | CV2784099 | single nucleotide variant | NM_017636.4(TRPM4):c.1191G>C (p.Leu397=) | Cardiovascular phenotype [RCV003380388] | likely benign | 19 | 49181389 | 49181389 | Human | | name |
| 401868908 | CV2784100 | single nucleotide variant | NM_017636.4(TRPM4):c.1191G>T (p.Leu397=) | Cardiovascular phenotype [RCV003380389] | likely benign | 19 | 49181389 | 49181389 | Human | | name |
| 401868910 | CV2784101 | single nucleotide variant | NM_017636.4(TRPM4):c.124A>G (p.Thr42Ala) | Cardiovascular phenotype [RCV003380390] | uncertain significance | 19 | 49166072 | 49166072 | Human | | name |
| 401868912 | CV2784102 | single nucleotide variant | NM_017636.4(TRPM4):c.2409G>T (p.Val803=) | Cardiovascular phenotype [RCV003380391] | likely benign | 19 | 49196638 | 49196638 | Human | | name |
| 401868879 | CV2787597 | single nucleotide variant | NM_017636.4(TRPM4):c.2130C>T (p.Phe710=) | Cardiovascular phenotype [RCV003380373] | likely benign | 19 | 49190318 | 49190318 | Human | | name |
| 401868889 | CV2787603 | single nucleotide variant | NM_017636.4(TRPM4):c.1182G>A (p.Leu394=) | Cardiovascular phenotype [RCV003380379] | likely benign | 19 | 49181380 | 49181380 | Human | | name |
| 402467266 | CV2855892 | single nucleotide variant | NM_017636.4(TRPM4):c.1869C>G (p.Gly623=) | Progressive familial heart block type IB [RCV003503500] | uncertain significance | 19 | 49188766 | 49188766 | Human | 1 | name |
| 402467425 | CV2859700 | single nucleotide variant | NM_017636.4(TRPM4):c.2076C>A (p.Ala692=) | Progressive familial heart block type IB [RCV003503542] | likely benign | 19 | 49190264 | 49190264 | Human | 1 | name |
| 402468515 | CV2869215 | single nucleotide variant | NM_017636.4(TRPM4):c.2880A>G (p.Pro960=) | Progressive familial heart block type IB [RCV003503871] | likely benign | 19 | 49200712 | 49200712 | Human | 1 | name |
| 402468207 | CV2870587 | deletion | NM_017636.4(TRPM4):c.502del (p.Val168fs) | Progressive familial heart block type IB [RCV003503633] | uncertain significance | 19 | 49168313 | 49168313 | Human | 1 | name |
| 402468611 | CV2876556 | single nucleotide variant | NM_017636.4(TRPM4):c.2814C>T (p.Gly938=) | Cardiovascular phenotype [RCV004676218]|Progressive familial heart block type IB [RCV003503896] | likely benign | 19 | 49200646 | 49200646 | Human | 1 | name |
| 402468761 | CV2876839 | single nucleotide variant | NM_017636.4(TRPM4):c.1263G>T (p.Arg421=) | Progressive familial heart block type IB [RCV003503936] | uncertain significance | 19 | 49181461 | 49181461 | Human | 1 | name |
| 402470023 | CV2885912 | single nucleotide variant | NM_017636.4(TRPM4):c.2007G>A (p.Gln669=) | Progressive familial heart block type IB [RCV003504280] | uncertain significance | 19 | 49189079 | 49189079 | Human | 1 | name |
| 402469911 | CV2892386 | single nucleotide variant | NM_017636.4(TRPM4):c.1470C>T (p.Ala490=) | Progressive familial heart block type IB [RCV003504250] | likely benign | 19 | 49182784 | 49182784 | Human | 1 | name |
| 402470334 | CV2893487 | single nucleotide variant | NM_017636.4(TRPM4):c.1419C>T (p.Ile473=) | Progressive familial heart block type IB [RCV003504366] | likely benign | 19 | 49182733 | 49182733 | Human | 1 | name |
| 402470483 | CV2893537 | single nucleotide variant | NM_017636.4(TRPM4):c.1834A>C (p.Arg612=) | Progressive familial heart block type IB [RCV003504404] | likely benign | 19 | 49188731 | 49188731 | Human | 1 | name |
| 402470887 | CV2898075 | single nucleotide variant | NM_017636.4(TRPM4):c.169G>A (p.Val57Met) | Cardiovascular phenotype [RCV004992653]|Progressive familial heart block type IB [RCV003504497] | likely benign|uncertain significance | 19 | 49166117 | 49166117 | Human | 1 | name |
| 402471312 | CV2898963 | single nucleotide variant | NM_017636.4(TRPM4):c.286C>G (p.Arg96Gly) | Progressive familial heart block type IB [RCV003504569] | uncertain significance | 19 | 49167935 | 49167935 | Human | 1 | name |
| 402469370 | CV2930448 | single nucleotide variant | NM_017636.4(TRPM4):c.1392C>T (p.Tyr464=) | Progressive familial heart block type IB [RCV003504077] | likely benign | 19 | 49182706 | 49182706 | Human | 1 | name |
| 405035949 | CV2936503 | single nucleotide variant | NM_017636.4(TRPM4):c.2886C>T (p.Ile962=) | Progressive familial heart block type IB [RCV003609312] | likely benign | 19 | 49200718 | 49200718 | Human | 1 | name |
| 405036775 | CV2944691 | single nucleotide variant | NM_017636.4(TRPM4):c.136G>A (p.Ala46Thr) | Progressive familial heart block type IB [RCV003609384] | uncertain significance | 19 | 49166084 | 49166084 | Human | 1 | name |
| 405037481 | CV2948917 | single nucleotide variant | NM_017636.4(TRPM4):c.2238G>T (p.Pro746=) | Progressive familial heart block type IB [RCV003609449] | likely benign | 19 | 49196467 | 49196467 | Human | 1 | name |
| 405038566 | CV2957907 | single nucleotide variant | NM_017636.4(TRPM4):c.296C>T (p.Pro99Leu) | Progressive familial heart block type IB [RCV003609542] | uncertain significance | 19 | 49167945 | 49167945 | Human | 1 | name |
| 405045896 | CV2965800 | single nucleotide variant | NM_017636.4(TRPM4):c.211C>T (p.Pro71Ser) | Progressive familial heart block type IB [RCV003610156] | uncertain significance | 19 | 49166159 | 49166159 | Human | 1 | name |
| 405044390 | CV2967306 | single nucleotide variant | NM_017636.4(TRPM4):c.2244G>T (p.Gly748=) | Progressive familial heart block type IB [RCV003610047] | likely benign | 19 | 49196473 | 49196473 | Human | 1 | name |
| 405046482 | CV2973274 | single nucleotide variant | NM_017636.4(TRPM4):c.1020C>T (p.Pro340=) | Progressive familial heart block type IB [RCV003610201] | likely benign | 19 | 49171739 | 49171739 | Human | 1 | name |
| 405049533 | CV2979943 | single nucleotide variant | NM_017636.4(TRPM4):c.1758T>G (p.Val586=) | Progressive familial heart block type IB [RCV003610409] | likely benign | 19 | 49188655 | 49188655 | Human | 1 | name |
| 405048122 | CV2984768 | single nucleotide variant | NM_017636.4(TRPM4):c.215C>T (p.Thr72Ile) | Cardiovascular phenotype [RCV004371701]|Progressive familial heart block type IB [RCV003610282] | uncertain significance | 19 | 49166163 | 49166163 | Human | 1 | name |
| 405031841 | CV3009549 | single nucleotide variant | NM_017636.4(TRPM4):c.274C>T (p.Arg92Trp) | Progressive familial heart block type IB [RCV003608931] | uncertain significance | 19 | 49167923 | 49167923 | Human | 1 | name |
| 405031986 | CV3016220 | single nucleotide variant | NM_017636.4(TRPM4):c.2010T>C (p.Asp670=) | Progressive familial heart block type IB [RCV003608942] | likely benign | 19 | 49189082 | 49189082 | Human | 1 | name |
| 405051186 | CV3024064 | single nucleotide variant | NM_017636.4(TRPM4):c.125C>T (p.Thr42Ile) | Progressive familial heart block type IB [RCV003610533] | uncertain significance | 19 | 49166073 | 49166073 | Human | 1 | name |
| 405053393 | CV3043575 | single nucleotide variant | NM_017636.4(TRPM4):c.2427G>T (p.Pro809=) | Progressive familial heart block type IB [RCV003610736] | likely benign | 19 | 49196656 | 49196656 | Human | 1 | name |
| 405041730 | CV3073644 | single nucleotide variant | NM_017636.4(TRPM4):c.2376G>T (p.Leu792=) | Cardiovascular phenotype [RCV004374300]|Progressive familial heart block type IB [RCV003609839] | likely benign | 19 | 49196605 | 49196605 | Human | 1 | name |
| 405042847 | CV3074758 | single nucleotide variant | NM_017636.4(TRPM4):c.268T>G (p.Phe90Val) | Progressive familial heart block type IB [RCV003609933]|not provided [RCV004763762] | uncertain significance | 19 | 49167917 | 49167917 | Human | 1 | name |
| 405149324 | CV3123241 | single nucleotide variant | NM_017636.4(TRPM4):c.119C>T (p.Pro40Leu) | Progressive familial heart block type IB [RCV003817474] | uncertain significance | 19 | 49166067 | 49166067 | Human | 1 | name |
| 405088649 | CV3138136 | single nucleotide variant | NM_017636.4(TRPM4):c.2208C>G (p.Val736=) | Progressive familial heart block type IB [RCV003834654] | uncertain significance | 19 | 49190771 | 49190771 | Human | 1 | name |
| 405051449 | CV3138295 | single nucleotide variant | NM_017636.4(TRPM4):c.2325C>T (p.Phe775=) | Progressive familial heart block type IB [RCV003832139] | likely benign | 19 | 49196554 | 49196554 | Human | 1 | name |
| 405043067 | CV3141196 | single nucleotide variant | NM_017636.4(TRPM4):c.2028G>A (p.Leu676=) | Progressive familial heart block type IB [RCV003831489] | likely benign | 19 | 49190216 | 49190216 | Human | 1 | name |
| 405191208 | CV3157067 | single nucleotide variant | NM_017636.4(TRPM4):c.2772C>T (p.Ser924=) | Progressive familial heart block type IB [RCV003859755] | uncertain significance | 19 | 49200426 | 49200426 | Human | 1 | name |
| 405237532 | CV3166641 | single nucleotide variant | NM_017636.4(TRPM4):c.115C>T (p.Arg39Cys) | Progressive familial heart block type IB [RCV003854091] | uncertain significance | 19 | 49166063 | 49166063 | Human | 1 | name |
| 402475982 | CV3173725 | single nucleotide variant | NM_017636.4(TRPM4):c.2898C>G (p.Val966=) | Cardiovascular phenotype [RCV005301408]|Progressive familial heart block type IB [RCV003875263] | likely benign | 19 | 49200730 | 49200730 | Human | 1 | name |
| 405254731 | CV3175506 | single nucleotide variant | NM_017636.4(TRPM4):c.2694C>T (p.Asp898=) | Progressive familial heart block type IB [RCV003871773] | likely benign | 19 | 49200348 | 49200348 | Human | 1 | name |
| 404987771 | CV3179815 | single nucleotide variant | NM_017636.4(TRPM4):c.1257A>G (p.Gln419=) | Progressive familial heart block type IB [RCV003881292] | likely benign | 19 | 49181455 | 49181455 | Human | 1 | name |
| 402474744 | CV3182806 | single nucleotide variant | NM_017636.4(TRPM4):c.1320C>T (p.Phe440=) | Cardiovascular phenotype [RCV004369646]|Progressive familial heart block type IB [RCV003875050] | likely benign | 19 | 49182634 | 49182634 | Human | 1 | name |
| 11616328 | CV334064 | single nucleotide variant | NM_017636.4(TRPM4):c.1041G>T (p.Leu347=) | Cardiovascular phenotype [RCV000619015]|Progressive familial heart block type IB [RCV000293611]|not provided [RCV004717301]|not specified [RCV000421232] | benign|likely benign | 19 | 49171760 | 49171760 | Human | 1 | name |
| 11622711 | CV334067 | single nucleotide variant | NM_017636.4(TRPM4):c.1473A>G (p.Leu491=) | Cardiovascular phenotype [RCV002392887]|Progressive familial heart block type IB [RCV000363825]|TRPM4-related disorder [RCV004544599] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49182787 | 49182787 | Human | 1 | name , alternate_id |
| 11622146 | CV334068 | single nucleotide variant | NM_017636.4(TRPM4):c.2229G>A (p.Glu743=) | Progressive familial heart block type IB [RCV000356793] | conflicting interpretations of pathogenicity|uncertain significance | 19 | 49196458 | 49196458 | Human | 1 | name |
| 405761489 | CV3344359 | single nucleotide variant | NM_017636.4(TRPM4):c.190G>A (p.Asp64Asn) | Cardiovascular phenotype [RCV004468724] | uncertain significance | 19 | 49166138 | 49166138 | Human | | name |
| 405761501 | CV3344361 | single nucleotide variant | NM_017636.4(TRPM4):c.247G>T (p.Ala83Ser) | Cardiovascular phenotype [RCV004468726]|Progressive familial heart block type IB [RCV005104760] | uncertain significance | 19 | 49166195 | 49166195 | Human | 1 | name |
| 405709024 | CV3381428 | single nucleotide variant | NM_017636.4(TRPM4):c.1081C>T (p.Leu361=) | Cardiovascular phenotype [RCV004522162] | uncertain significance | 19 | 49172039 | 49172039 | Human | | name |
| 405709030 | CV3381429 | single nucleotide variant | NM_017636.4(TRPM4):c.1149G>A (p.Lys383=) | Cardiovascular phenotype [RCV004522163] | likely benign | 19 | 49172107 | 49172107 | Human | | name |
| 405709040 | CV3381431 | single nucleotide variant | NM_017636.4(TRPM4):c.155C>G (p.Ala52Gly) | Cardiovascular phenotype [RCV004522165]|Progressive familial heart block type IB [RCV005059469] | uncertain significance | 19 | 49166103 | 49166103 | Human | 1 | name |
| 405709046 | CV3381432 | single nucleotide variant | NM_017636.4(TRPM4):c.1599C>T (p.Phe533=) | Cardiovascular phenotype [RCV004522166]|Progressive familial heart block type IB [RCV005100594] | uncertain significance | 19 | 49182913 | 49182913 | Human | 1 | name |
| 405709054 | CV3381434 | single nucleotide variant | NM_017636.4(TRPM4):c.1641G>C (p.Pro547=) | Cardiovascular phenotype [RCV004522168]|Progressive familial heart block type IB [RCV005100595] | likely benign | 19 | 49183110 | 49183110 | Human | 1 | name |
| 405709062 | CV3381436 | single nucleotide variant | NM_017636.4(TRPM4):c.1699C>T (p.Leu567=) | Cardiovascular phenotype [RCV004522170] | likely benign | 19 | 49183168 | 49183168 | Human | | name |
| 405709066 | CV3381437 | single nucleotide variant | NM_017636.4(TRPM4):c.1806G>A (p.Leu602=) | Cardiovascular phenotype [RCV004522171] | likely benign | 19 | 49188703 | 49188703 | Human | | name |
| 405709071 | CV3381438 | single nucleotide variant | NM_017636.4(TRPM4):c.1998C>T (p.Phe666=) | Cardiovascular phenotype [RCV004522172] | likely benign | 19 | 49189070 | 49189070 | Human | | name |
| 405709087 | CV3381441 | single nucleotide variant | NM_017636.4(TRPM4):c.2259G>A (p.Ser753=) | Cardiovascular phenotype [RCV004522175] | likely benign | 19 | 49196488 | 49196488 | Human | | name |
| 405709096 | CV3381443 | single nucleotide variant | NM_017636.4(TRPM4):c.2382G>C (p.Leu794=) | Cardiovascular phenotype [RCV004522177] | likely benign | 19 | 49196611 | 49196611 | Human | | name |
| 405709105 | CV3381444 | single nucleotide variant | NM_017636.4(TRPM4):c.2406C>T (p.Leu802=) | Cardiovascular phenotype [RCV004522178] | likely benign | 19 | 49196635 | 49196635 | Human | | name |
| 405709110 | CV3381445 | single nucleotide variant | NM_017636.4(TRPM4):c.2469G>T (p.Thr823=) | Cardiovascular phenotype [RCV004522179] | likely benign | 19 | 49196698 | 49196698 | Human | | name |
| 405709120 | CV3381447 | single nucleotide variant | NM_017636.4(TRPM4):c.2514C>A (p.Gly838=) | Cardiovascular phenotype [RCV004522181] | likely benign | 19 | 49196743 | 49196743 | Human | | name |
| 405709136 | CV3381451 | single nucleotide variant | NM_017636.4(TRPM4):c.2685C>T (p.Leu895=) | Cardiovascular phenotype [RCV004522185] | likely benign | 19 | 49200339 | 49200339 | Human | | name |
| 405709182 | CV3381460 | deletion | NM_017636.4(TRPM4):c.371del (p.Gly124fs) | Cardiovascular phenotype [RCV004522194] | uncertain significance | 19 | 49168015 | 49168015 | Human | | name |
| 11623004 | CV343979 | single nucleotide variant | NM_017636.4(TRPM4):c.136G>T (p.Ala46Ser) | Progressive familial heart block type IB [RCV000366846] | uncertain significance | 19 | 49166084 | 49166084 | Human | 1 | name |
| 11625050 | CV343991 | single nucleotide variant | NM_017636.4(TRPM4):c.1242T>C (p.Phe414=) | Cardiovascular phenotype [RCV002379217]|Progressive familial heart block type IB [RCV000467270]|not provided [RCV001697672]|not specified [RCV000607635] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49181440 | 49181440 | Human | 1 | name |
| 11622231 | CV343992 | single nucleotide variant | NM_017636.4(TRPM4):c.2085C>T (p.Leu695=) | Cardiovascular phenotype [RCV002418193]|Progressive familial heart block type IB [RCV000357569]|not provided [RCV001697823] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49190273 | 49190273 | Human | 1 | name |
| 407527692 | CV3488832 | single nucleotide variant | NM_017636.4(TRPM4):c.1485T>C (p.Ala495=) | Cardiovascular phenotype [RCV004680105] | likely benign | 19 | 49182799 | 49182799 | Human | | name |
| 407527709 | CV3488843 | single nucleotide variant | NM_017636.4(TRPM4):c.1116A>G (p.Glu372=) | Cardiovascular phenotype [RCV004680116] | likely benign | 19 | 49172074 | 49172074 | Human | | name |
| 407527710 | CV3488844 | single nucleotide variant | NM_017636.4(TRPM4):c.1122G>A (p.Glu374=) | Cardiovascular phenotype [RCV004680117] | uncertain significance | 19 | 49172080 | 49172080 | Human | | name |
| 407527724 | CV3488852 | single nucleotide variant | NM_017636.4(TRPM4):c.254G>C (p.Arg85Pro) | Cardiovascular phenotype [RCV004680125] | uncertain significance | 19 | 49166202 | 49166202 | Human | | name |
| 11628785 | CV350206 | single nucleotide variant | NM_017636.4(TRPM4):c.250G>A (p.Gly84Ser) | Cardiovascular phenotype [RCV002450894]|Progressive familial heart block type IB [RCV000309544] | likely benign|uncertain significance | 19 | 49166198 | 49166198 | Human | 1 | name |
| 11660363 | CV350209 | single nucleotide variant | NM_017636.4(TRPM4):c.251G>T (p.Gly84Val) | Progressive familial heart block type IB [RCV000366511] | uncertain significance | 19 | 49166199 | 49166199 | Human | 1 | name |
| 11654388 | CV350217 | single nucleotide variant | NM_017636.4(TRPM4):c.2358C>T (p.Asn786=) | Progressive familial heart block type IB [RCV000317075] | conflicting interpretations of pathogenicity|uncertain significance | 19 | 49196587 | 49196587 | Human | 1 | name |
| 11631760 | CV350218 | single nucleotide variant | NM_017636.4(TRPM4):c.2380C>T (p.Leu794=) | Cardiovascular phenotype [RCV000617920]|Progressive familial heart block type IB [RCV000387953]|not provided [RCV004717303]|not specified [RCV000427152] | benign|likely benign | 19 | 49196609 | 49196609 | Human | 1 | name |
| 11658290 | CV350219 | single nucleotide variant | NM_017636.4(TRPM4):c.2790G>A (p.Val930=) | Progressive familial heart block type IB [RCV000347645] | uncertain significance | 19 | 49200622 | 49200622 | Human | 1 | name |
| 11630154 | CV350222 | single nucleotide variant | NM_017636.4(TRPM4):c.2982G>A (p.Ser994=) | Cardiovascular phenotype [RCV000617912]|Progressive familial heart block type IB [RCV000460396]|not provided [RCV004717304]|not specified [RCV000421049] | benign|likely benign | 19 | 49201992 | 49201992 | Human | 1 | name |
| 596926642 | CV3530859 | duplication | NM_017636.4(TRPM4):c.380dup (p.Val129fs) | Cardiovascular phenotype [RCV004994466]|not provided [RCV004778444] | uncertain significance | 19 | 49168023 | 49168024 | Human | | name |
| 597713517 | CV3622024 | single nucleotide variant | NM_017636.4(TRPM4):c.2265T>C (p.Arg755=) | Cardiovascular phenotype [RCV004991041] | likely benign | 19 | 49196494 | 49196494 | Human | | name |
| 597713521 | CV3622025 | single nucleotide variant | NM_017636.4(TRPM4):c.1494C>G (p.Leu498=) | Cardiovascular phenotype [RCV004991042] | likely benign | 19 | 49182808 | 49182808 | Human | | name |
| 597713536 | CV3622028 | single nucleotide variant | NM_017636.4(TRPM4):c.1089C>T (p.Val363=) | Cardiovascular phenotype [RCV004991045] | likely benign | 19 | 49172047 | 49172047 | Human | | name |
| 597713609 | CV3622042 | single nucleotide variant | NM_017636.4(TRPM4):c.2511G>A (p.Gly837=) | Cardiovascular phenotype [RCV004991059] | likely benign | 19 | 49196740 | 49196740 | Human | | name |
| 597713614 | CV3622043 | single nucleotide variant | NM_017636.4(TRPM4):c.2721T>C (p.Leu907=) | Cardiovascular phenotype [RCV004991060] | likely benign | 19 | 49200375 | 49200375 | Human | | name |
| 597713635 | CV3622047 | single nucleotide variant | NM_017636.4(TRPM4):c.1638G>A (p.Ser546=) | Cardiovascular phenotype [RCV004991064]|Progressive familial heart block type IB [RCV005061621] | likely benign | 19 | 49183107 | 49183107 | Human | 1 | name |
| 597843131 | CV3735849 | single nucleotide variant | NM_017636.4(TRPM4):c.248C>T (p.Ala83Val) | not provided [RCV005065198] | uncertain significance | 19 | 49166196 | 49166196 | Human | | name |
| 597911602 | CV3745633 | single nucleotide variant | NM_017636.4(TRPM4):c.2691C>T (p.Ile897=) | Progressive familial heart block type IB [RCV005073634] | likely benign | 19 | 49200345 | 49200345 | Human | 1 | name |
| 597911665 | CV3745641 | single nucleotide variant | NM_017636.4(TRPM4):c.200C>T (p.Thr67Ile) | Progressive familial heart block type IB [RCV005073642] | uncertain significance | 19 | 49166148 | 49166148 | Human | 1 | name |
| 12836735 | CV376637 | single nucleotide variant | NM_017636.4(TRPM4):c.1803C>G (p.Arg601=) | Cardiovascular phenotype [RCV004022450]|Progressive familial heart block type IB [RCV002522528]|not specified [RCV000423923] | likely benign | 19 | 49188700 | 49188700 | Human | 1 | name |
| 597871840 | CV3768407 | single nucleotide variant | NM_017636.4(TRPM4):c.1323G>A (p.Val441=) | Progressive familial heart block type IB [RCV005122786] | likely benign | 19 | 49182637 | 49182637 | Human | 1 | name |
| 597872997 | CV3768829 | single nucleotide variant | NM_017636.4(TRPM4):c.2988G>A (p.Glu996=) | Progressive familial heart block type IB [RCV005122999] | likely benign | 19 | 49201998 | 49201998 | Human | 1 | name |
| 597922777 | CV3777789 | single nucleotide variant | NM_017636.4(TRPM4):c.1701G>A (p.Leu567=) | Progressive familial heart block type IB [RCV005130513] | likely benign | 19 | 49183170 | 49183170 | Human | 1 | name |
| 12840014 | CV377832 | single nucleotide variant | NM_017636.4(TRPM4):c.1215C>T (p.Arg405=) | Cardiovascular phenotype [RCV002356609]|Progressive familial heart block type IB [RCV001423723]|not specified [RCV000429896] | likely benign | 19 | 49181413 | 49181413 | Human | 1 | name |
| 597933624 | CV3780940 | single nucleotide variant | NM_017636.4(TRPM4):c.1833G>A (p.Arg611=) | Progressive familial heart block type IB [RCV005117052] | likely benign | 19 | 49188730 | 49188730 | Human | 1 | name |
| 597886558 | CV3787429 | single nucleotide variant | NM_017636.4(TRPM4):c.2451C>G (p.Leu817=) | Progressive familial heart block type IB [RCV005124995] | likely benign | 19 | 49196680 | 49196680 | Human | 1 | name |
| 597963128 | CV3791861 | single nucleotide variant | NM_017636.4(TRPM4):c.1680C>T (p.Ser560=) | Progressive familial heart block type IB [RCV005139417] | likely benign | 19 | 49183149 | 49183149 | Human | 1 | name |
| 597902084 | CV3796776 | single nucleotide variant | NM_017636.4(TRPM4):c.2286C>G (p.Arg762=) | Progressive familial heart block type IB [RCV005152859] | likely benign | 19 | 49196515 | 49196515 | Human | 1 | name |
| 597884151 | CV3799566 | single nucleotide variant | NM_017636.4(TRPM4):c.1713G>A (p.Arg571=) | Progressive familial heart block type IB [RCV005150233] | likely benign | 19 | 49183182 | 49183182 | Human | 1 | name |
| 597885651 | CV3800002 | single nucleotide variant | NM_017636.4(TRPM4):c.2655G>A (p.Pro885=) | Progressive familial heart block type IB [RCV005150481] | likely benign | 19 | 49200309 | 49200309 | Human | 1 | name |
| 597948023 | CV3800853 | single nucleotide variant | NM_017636.4(TRPM4):c.1521G>C (p.Leu507=) | Progressive familial heart block type IB [RCV005135253] | likely benign | 19 | 49182835 | 49182835 | Human | 1 | name |
| 597850199 | CV3803207 | single nucleotide variant | NM_017636.4(TRPM4):c.1152C>T (p.Ala384=) | Progressive familial heart block type IB [RCV005145324] | likely benign | 19 | 49181350 | 49181350 | Human | 1 | name |
| 597869811 | CV3803534 | single nucleotide variant | NM_017636.4(TRPM4):c.1563C>T (p.Ser521=) | Progressive familial heart block type IB [RCV005148132] | likely benign | 19 | 49182877 | 49182877 | Human | 1 | name |
| 597873228 | CV3805453 | single nucleotide variant | NM_017636.4(TRPM4):c.2472G>A (p.Leu824=) | Progressive familial heart block type IB [RCV005148731] | likely benign | 19 | 49196701 | 49196701 | Human | 1 | name |
| 597954208 | CV3812672 | single nucleotide variant | NM_017636.4(TRPM4):c.1683C>T (p.Asp561=) | Progressive familial heart block type IB [RCV005161946] | likely benign | 19 | 49183152 | 49183152 | Human | 1 | name |
| 597946897 | CV3817788 | single nucleotide variant | NM_017636.4(TRPM4):c.148G>A (p.Glu50Lys) | Progressive familial heart block type IB [RCV005160255] | uncertain significance | 19 | 49166096 | 49166096 | Human | 1 | name |
| 597949020 | CV3818464 | single nucleotide variant | NM_017636.4(TRPM4):c.1440G>A (p.Ala480=) | Progressive familial heart block type IB [RCV005160725] | likely benign | 19 | 49182754 | 49182754 | Human | 1 | name |
| 597902956 | CV3845891 | single nucleotide variant | NM_017636.4(TRPM4):c.1908G>A (p.Val636=) | Progressive familial heart block type IB [RCV005181513] | likely benign | 19 | 49188980 | 49188980 | Human | 1 | name |
| 597903786 | CV3846032 | single nucleotide variant | NM_017636.4(TRPM4):c.2520C>T (p.Leu840=) | Progressive familial heart block type IB [RCV005181654] | likely benign | 19 | 49196749 | 49196749 | Human | 1 | name |
| 597943305 | CV3847648 | single nucleotide variant | NM_017636.4(TRPM4):c.1551G>A (p.Pro517=) | Progressive familial heart block type IB [RCV005188376] | uncertain significance | 19 | 49182865 | 49182865 | Human | 1 | name |
| 597861685 | CV3850820 | single nucleotide variant | NM_017636.4(TRPM4):c.153T>G (p.Asp51Glu) | Progressive familial heart block type IB [RCV005195953] | uncertain significance | 19 | 49166101 | 49166101 | Human | 1 | name |
| 597867055 | CV3857870 | single nucleotide variant | NM_017636.4(TRPM4):c.1239C>T (p.Leu413=) | Progressive familial heart block type IB [RCV005196818] | likely benign | 19 | 49181437 | 49181437 | Human | 1 | name |
| 597932771 | CV3862106 | single nucleotide variant | NM_017636.4(TRPM4):c.183G>C (p.Trp61Cys) | Progressive familial heart block type IB [RCV005206970] | uncertain significance | 19 | 49166131 | 49166131 | Human | 1 | name |
| 598215258 | CV3932171 | single nucleotide variant | NM_017636.4(TRPM4):c.2967G>A (p.Glu989=) | Cardiovascular phenotype [RCV005292680] | likely benign | 19 | 49201977 | 49201977 | Human | | name |
| 598215262 | CV3932173 | single nucleotide variant | NM_017636.4(TRPM4):c.1434C>T (p.Asp478=) | Cardiovascular phenotype [RCV005292682] | likely benign | 19 | 49182748 | 49182748 | Human | | name |
| 598236838 | CV3932181 | single nucleotide variant | NM_017636.4(TRPM4):c.2337G>A (p.Pro779=) | Cardiovascular phenotype [RCV005296116] | likely benign | 19 | 49196566 | 49196566 | Human | | name |
| 12889627 | CV403824 | single nucleotide variant | NM_017636.4(TRPM4):c.1371G>A (p.Pro457=) | Progressive familial heart block type IB [RCV001450605] | likely benign | 19 | 49182685 | 49182685 | Human | 1 | name |
| 12902444 | CV410646 | deletion | NM_017636.4(TRPM4):c.623del (p.Pro208fs) | Cardiovascular phenotype [RCV002367660]|Progressive familial heart block type IB [RCV001342881]|not provided [RCV000487104] | uncertain significance | 19 | 49168561 | 49168561 | Human | 1 | name |
| 13217154 | CV424964 | duplication | NM_017636.4(TRPM4):c.371dup (p.Ser125fs) | Progressive familial heart block type IB [RCV000496992]|not provided [RCV002223217] | uncertain significance | 19 | 49168014 | 49168015 | Human | 1 | name |
| 13482116 | CV446167 | single nucleotide variant | NM_017636.4(TRPM4):c.2508C>T (p.Gly836=) | Cardiovascular phenotype [RCV002456020]|Progressive familial heart block type IB [RCV001853688]|not provided [RCV000521696] | likely benign|uncertain significance | 19 | 49196737 | 49196737 | Human | 1 | name |
| 13498345 | CV470395 | single nucleotide variant | NM_017636.4(TRPM4):c.2520C>A (p.Leu840=) | Progressive familial heart block type IB [RCV000528411] | likely benign | 19 | 49196749 | 49196749 | Human | 1 | name |
| 13468695 | CV471071 | single nucleotide variant | NM_017636.4(TRPM4):c.1164G>A (p.Ser388=) | Cardiovascular phenotype [RCV000621064]|Progressive familial heart block type IB [RCV000559534]|not provided [RCV001584300]|not specified [RCV004586781] | benign|likely benign | 19 | 49181362 | 49181362 | Human | 1 | name |
| 13466937 | CV471081 | single nucleotide variant | NM_017636.4(TRPM4):c.2619C>T (p.Thr873=) | Cardiovascular phenotype [RCV000621983]|Progressive familial heart block type IB [RCV000553069]|not provided [RCV004704078]|not specified [RCV000607084] | benign|likely benign | 19 | 49196848 | 49196848 | Human | 1 | name |
| 13509897 | CV482196 | single nucleotide variant | NM_017636.4(TRPM4):c.286C>T (p.Arg96Ter) | Cardiomyopathy [RCV000852756]|Cardiovascular phenotype [RCV003372759]|Progressive familial heart block type IB [RCV000765457]|not provided [RCV000579014] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49167935 | 49167935 | Human | 3 | name |
| 13536959 | CV506929 | single nucleotide variant | NM_017636.4(TRPM4):c.2208C>T (p.Val736=) | Cardiovascular phenotype [RCV002431772]|Progressive familial heart block type IB [RCV001491400]|not specified [RCV000609724] | likely benign | 19 | 49190771 | 49190771 | Human | 1 | name |
| 13526978 | CV507488 | single nucleotide variant | NM_017636.4(TRPM4):c.1971G>A (p.Leu657=) | not specified [RCV000604843] | likely benign | 19 | 49189043 | 49189043 | Human | | name |
| 13530002 | CV507908 | single nucleotide variant | NM_017636.4(TRPM4):c.1332C>T (p.Leu444=) | Progressive familial heart block type IB [RCV005091611]|not specified [RCV000600525] | likely benign | 19 | 49182646 | 49182646 | Human | 1 | name |
| 13531509 | CV512428 | single nucleotide variant | NM_017636.4(TRPM4):c.206A>G (p.Glu69Gly) | Inborn genetic diseases [RCV000623391]|Progressive familial heart block type IB [RCV003609165] | uncertain significance | 19 | 49166154 | 49166154 | Human | 2 | name |
| 13617496 | CV533114 | single nucleotide variant | NM_017636.4(TRPM4):c.127G>A (p.Ala43Thr) | Cardiovascular phenotype [RCV002369709]|Progressive familial heart block type IB [RCV000645469]|Progressive familial heart block type IB [RCV002483861]|not provided [RCV002469231] | likely benign|uncertain significance | 19 | 49166075 | 49166075 | Human | 2 | name |
| 13617494 | CV533221 | single nucleotide variant | NM_017636.4(TRPM4):c.2214G>A (p.Thr738=) | Cardiovascular phenotype [RCV002424475]|Progressive familial heart block type IB [RCV000645468]|not provided [RCV000786237] | likely benign|uncertain significance | 19 | 49196443 | 49196443 | Human | 1 | name |
| 13818773 | CV573223 | single nucleotide variant | NM_017636.4(TRPM4):c.194C>T (p.Ala65Val) | Progressive familial heart block type IB [RCV000693947] | uncertain significance | 19 | 49166142 | 49166142 | Human | 1 | name |
| 14693622 | CV620645 | deletion | NM_017636.4(TRPM4):c.344del (p.Pro115fs) | Cardiovascular phenotype [RCV002458391]|Progressive familial heart block type IB [RCV000779263] | uncertain significance | 19 | 49167990 | 49167990 | Human | 1 | name |
| 15120771 | CV684844 | single nucleotide variant | NM_017636.4(TRPM4):c.2895C>T (p.Arg965=) | Progressive familial heart block type IB [RCV001464319]|Progressive familial heart block type IB [RCV002501200] | likely benign | 19 | 49200727 | 49200727 | Human | 1 | name |
| 15142678 | CV689120 | single nucleotide variant | NM_017636.4(TRPM4):c.2361G>A (p.Val787=) | Cardiovascular phenotype [RCV002453955]|Progressive familial heart block type IB [RCV001498313] | likely benign | 19 | 49196590 | 49196590 | Human | 1 | name |
| 15137302 | CV689121 | single nucleotide variant | NM_017636.4(TRPM4):c.2535C>G (p.Pro845=) | Cardiovascular phenotype [RCV002427116]|Progressive familial heart block type IB [RCV002064498]|Progressive familial heart block type IB [RCV002495244]|TRPM4-related disorder [RCV004538219]|not provided [RCV000864646] | benign|likely benign | 19 | 49196764 | 49196764 | Human | 2 | name , alternate_id |
| 15136111 | CV689122 | single nucleotide variant | NM_017636.4(TRPM4):c.2985G>A (p.Ser995=) | Cardiovascular phenotype [RCV003307595]|Progressive familial heart block type IB [RCV001503584] | likely benign | 19 | 49201995 | 49201995 | Human | 1 | name |
| 15166867 | CV742049 | single nucleotide variant | NM_017636.4(TRPM4):c.2629C>T (p.Leu877=) | Cardiovascular phenotype [RCV002427261]|Progressive familial heart block type IB [RCV000904535]|not specified [RCV005405398] | likely benign | 19 | 49196858 | 49196858 | Human | 1 | name |
| 15129387 | CV757168 | single nucleotide variant | NM_017636.4(TRPM4):c.1371G>T (p.Pro457=) | Progressive familial heart block type IB [RCV001463100] | likely benign | 19 | 49182685 | 49182685 | Human | 1 | name |
| 15124364 | CV757169 | single nucleotide variant | NM_017636.4(TRPM4):c.1488G>A (p.Ala496=) | Progressive familial heart block type IB [RCV001416631] | likely benign | 19 | 49182802 | 49182802 | Human | 1 | name |
| 15132133 | CV757170 | single nucleotide variant | NM_017636.4(TRPM4):c.2583C>G (p.Ala861=) | Progressive familial heart block type IB [RCV001493494] | likely benign | 19 | 49196812 | 49196812 | Human | 1 | name |
| 15179436 | CV772800 | single nucleotide variant | NM_017636.4(TRPM4):c.1272T>C (p.His424=) | Cardiovascular phenotype [RCV002372592]|Progressive familial heart block type IB [RCV001496707] | likely benign | 19 | 49182586 | 49182586 | Human | 1 | name |
| 15123690 | CV772801 | single nucleotide variant | NM_017636.4(TRPM4):c.1710C>T (p.Asn570=) | Progressive familial heart block type IB [RCV000940899] | likely benign | 19 | 49183179 | 49183179 | Human | 1 | name |
| 15123706 | CV786252 | single nucleotide variant | NM_017636.4(TRPM4):c.2247C>T (p.Val749=) | Progressive familial heart block type IB [RCV001417583] | likely benign | 19 | 49196476 | 49196476 | Human | 1 | name |
| 21406395 | CV800140 | single nucleotide variant | NM_017636.4(TRPM4):c.169G>C (p.Val57Leu) | Progressive familial heart block type IB [RCV001002622] | uncertain significance | 19 | 49166117 | 49166117 | Human | 1 | name |
| 21405796 | CV800143 | single nucleotide variant | NM_017636.4(TRPM4):c.2529G>A (p.Gly843=) | Cardiovascular phenotype [RCV002427453]|Progressive familial heart block type IB [RCV001001185] | likely benign | 19 | 49196758 | 49196758 | Human | 1 | name |
| 26901803 | CV847831 | single nucleotide variant | NM_017636.4(TRPM4):c.242C>T (p.Thr81Met) | Progressive familial heart block type IB [RCV001060506] | uncertain significance | 19 | 49166190 | 49166190 | Human | 1 | name |
| 26900897 | CV847832 | single nucleotide variant | NM_017636.4(TRPM4):c.277C>G (p.Leu93Val) | Progressive familial heart block type IB [RCV001054433] | uncertain significance | 19 | 49167926 | 49167926 | Human | 1 | name |
| 26902994 | CV847833 | single nucleotide variant | NM_017636.4(TRPM4):c.287G>A (p.Arg96Gln) | Cardiovascular phenotype [RCV002436665]|Progressive familial heart block type IB [RCV001066986] | uncertain significance | 19 | 49167936 | 49167936 | Human | 1 | name |
| 26900890 | CV847843 | single nucleotide variant | NM_017636.4(TRPM4):c.2709G>A (p.Thr903=) | Progressive familial heart block type IB [RCV001054411] | uncertain significance | 19 | 49200363 | 49200363 | Human | 1 | name |
| 26900318 | CV847846 | single nucleotide variant | NM_017636.4(TRPM4):c.2844G>A (p.Thr948=) | Cardiovascular phenotype [RCV002436597]|Progressive familial heart block type IB [RCV001049999] | likely benign|uncertain significance | 19 | 49200676 | 49200676 | Human | 1 | name |
| 28880101 | CV882299 | single nucleotide variant | NM_017636.4(TRPM4):c.272T>C (p.Leu91Pro) | Cardiovascular phenotype [RCV005298707]|Progressive familial heart block type IB [RCV001135788] | uncertain significance | 19 | 49167921 | 49167921 | Human | 1 | name |
| 28909672 | CV882306 | single nucleotide variant | NM_017636.4(TRPM4):c.1836G>A (p.Arg612=) | Cardiovascular phenotype [RCV002411637]|Progressive familial heart block type IB [RCV001128898] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49188733 | 49188733 | Human | 1 | name |
| 28909676 | CV882307 | single nucleotide variant | NM_017636.4(TRPM4):c.1843C>T (p.Leu615=) | Cardiovascular phenotype [RCV002411638]|Progressive familial heart block type IB [RCV001128899] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49188740 | 49188740 | Human | 1 | name |
| 28909682 | CV882308 | single nucleotide variant | NM_017636.4(TRPM4):c.1908G>C (p.Val636=) | Progressive familial heart block type IB [RCV001128903] | conflicting interpretations of pathogenicity|uncertain significance | 19 | 49188980 | 49188980 | Human | 1 | name |
| 28871107 | CV882309 | single nucleotide variant | NM_017636.4(TRPM4):c.2154A>C (p.Thr718=) | Cardiovascular phenotype [RCV003293894]|Progressive familial heart block type IB [RCV001131573] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49190717 | 49190717 | Human | 1 | name |
| 28873018 | CV882313 | single nucleotide variant | NM_017636.4(TRPM4):c.2403G>T (p.Leu801=) | Cardiovascular phenotype [RCV003163289]|Progressive familial heart block type IB [RCV001132607] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49196632 | 49196632 | Human | 1 | name |
| 28880567 | CV882315 | single nucleotide variant | NM_017636.4(TRPM4):c.2529G>C (p.Gly843=) | Progressive familial heart block type IB [RCV001135989] | conflicting interpretations of pathogenicity|uncertain significance | 19 | 49196758 | 49196758 | Human | 1 | name |
| 28909824 | CV882317 | single nucleotide variant | NM_017636.4(TRPM4):c.2712G>T (p.Val904=) | Cardiovascular phenotype [RCV002429770]|Progressive familial heart block type IB [RCV001129013]|TRPM4-related disorder [RCV004545075] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49200366 | 49200366 | Human | 1 | name , alternate_id |
| 28909829 | CV882319 | single nucleotide variant | NM_017636.4(TRPM4):c.2835C>T (p.Gly945=) | Progressive familial heart block type IB [RCV001129015] | uncertain significance | 19 | 49200667 | 49200667 | Human | 1 | name |
| 8636928 | CV92153 | single nucleotide variant | NM_017636.3(TRPM4):c.1180C>T (p.Leu394=) | Malignant melanoma [RCV000072251] | not provided | 19 | 49181378 | 49181378 | Human | | name |
| 38464862 | CV950847 | single nucleotide variant | NM_017636.4(TRPM4):c.131A>G (p.His44Arg) | Progressive familial heart block type IB [RCV001237168] | uncertain significance | 19 | 49166079 | 49166079 | Human | 1 | name |
| 38465318 | CV950850 | single nucleotide variant | NM_017636.4(TRPM4):c.1050G>A (p.Gln350=) | Cardiovascular phenotype [RCV004034566]|Progressive familial heart block type IB [RCV001238008]|Progressive familial heart block type IB [RCV002491771] | uncertain significance | 19 | 49171769 | 49171769 | Human | 2 | name |
| 40887176 | CV974175 | single nucleotide variant | NM_017636.4(TRPM4):c.217G>A (p.Asp73Asn) | Cardiovascular phenotype [RCV004035424]|Progressive familial heart block type IB [RCV001880123] | likely benign|uncertain significance | 19 | 49166165 | 49166165 | Human | 1 | name |
| 41405516 | CV982189 | single nucleotide variant | NM_017636.4(TRPM4):c.2766C>A (p.Ile922=) | Cardiovascular phenotype [RCV003294186]|Progressive familial heart block type IB [RCV003770445]|not provided [RCV001813038] | likely benign|uncertain significance | 19 | 49200420 | 49200420 | Human | 1 | name |
| 9832562 | CV178746 | single nucleotide variant | NM_017636.4(TRPM4):c.678C>G (p.Asp226Glu) | Progressive familial heart block type IB [RCV002498781]|Short QT syndrome [RCV000157547]|not provided [RCV003332127] | uncertain significance | 19 | 49168618 | 49168618 | Human | 2 | name |
| 401796484 | CV2670289 | single nucleotide variant | NM_017636.4(TRPM4):c.337C>T (p.Arg113Cys) | Primary dilated cardiomyopathy [RCV003319258]|Progressive familial heart block type IB [RCV005102472]|not specified [RCV005240734] | uncertain significance | 19 | 49167986 | 49167986 | Human | 2 | name |
| 401746494 | CV2695582 | single nucleotide variant | NM_017636.4(TRPM4):c.344C>T (p.Pro115Leu) | Cardiovascular phenotype [RCV004299406]|not provided [RCV004794633] | uncertain significance | 19 | 49167993 | 49167993 | Human | | name |
| 401746500 | CV2695583 | single nucleotide variant | NM_017636.4(TRPM4):c.554C>T (p.Ala185Val) | Cardiovascular phenotype [RCV004299407] | uncertain significance | 19 | 49168365 | 49168365 | Human | | name |
| 401765993 | CV2724560 | single nucleotide variant | NM_017636.4(TRPM4):c.764C>T (p.Ser255Phe) | Cardiovascular phenotype [RCV003301662] | uncertain significance | 19 | 49168704 | 49168704 | Human | | name |
| 401766014 | CV2724570 | single nucleotide variant | NM_017636.4(TRPM4):c.332G>A (p.Gly111Asp) | Cardiovascular phenotype [RCV003301672] | uncertain significance | 19 | 49167981 | 49167981 | Human | | name |
| 401766015 | CV2724571 | single nucleotide variant | NM_017636.4(TRPM4):c.830T>C (p.Leu277Pro) | Cardiovascular phenotype [RCV003301673] | uncertain significance | 19 | 49171390 | 49171390 | Human | | name |
| 401776093 | CV2724575 | single nucleotide variant | NM_017636.4(TRPM4):c.901G>A (p.Val301Met) | Cardiovascular phenotype [RCV003305845]|Progressive familial heart block type IB [RCV003609278] | uncertain significance | 19 | 49171620 | 49171620 | Human | 1 | name |
| 401776096 | CV2724578 | single nucleotide variant | NM_017636.4(TRPM4):c.575G>T (p.Gly192Val) | Cardiovascular phenotype [RCV003305848] | uncertain significance | 19 | 49168386 | 49168386 | Human | | name |
| 401799203 | CV2741780 | single nucleotide variant | NM_017636.4(TRPM4):c.348C>A (p.Asn116Lys) | not provided [RCV003323188] | uncertain significance | 19 | 49167997 | 49167997 | Human | | name |
| 401858329 | CV2774295 | single nucleotide variant | NM_017636.4(TRPM4):c.852G>A (p.Met284Ile) | Cardiovascular phenotype [RCV004347657]|Progressive familial heart block type IB [RCV005104106] | uncertain significance | 19 | 49171412 | 49171412 | Human | 1 | name |
| 401868895 | CV2784093 | single nucleotide variant | NM_017636.4(TRPM4):c.596C>A (p.Thr199Asn) | Cardiovascular phenotype [RCV003380382]|Progressive familial heart block type IB [RCV003609291]|Progressive familial heart block type IB [RCV005399358] | uncertain significance | 19 | 49168407 | 49168407 | Human | 2 | name |
| 401926932 | CV2798782 | single nucleotide variant | NM_017636.4(TRPM4):c.601A>G (p.Ile201Val) | TRPM4-related disorder [RCV004528602] | uncertain significance | 19 | 49168412 | 49168412 | Human | 1 | name , trait , alternate_id |
| 402468547 | CV2869422 | single nucleotide variant | NM_017636.4(TRPM4):c.3267C>G (p.Leu1089=) | Progressive familial heart block type IB [RCV003503879] | likely benign | 19 | 49210344 | 49210344 | Human | 1 | name |
| 402468271 | CV2875028 | single nucleotide variant | NM_017636.4(TRPM4):c.601A>C (p.Ile201Leu) | Progressive familial heart block type IB [RCV003503715] | uncertain significance | 19 | 49168412 | 49168412 | Human | 1 | name |
| 402468637 | CV2876730 | single nucleotide variant | NM_017636.4(TRPM4):c.371G>A (p.Gly124Glu) | Progressive familial heart block type IB [RCV003503903] | uncertain significance | 19 | 49168020 | 49168020 | Human | 1 | name |
| 402470737 | CV2887459 | single nucleotide variant | NM_017636.4(TRPM4):c.677A>G (p.Asp226Gly) | Progressive familial heart block type IB [RCV003504450] | uncertain significance | 19 | 49168617 | 49168617 | Human | 1 | name |
| 402470004 | CV2889161 | single nucleotide variant | NM_017636.4(TRPM4):c.652G>A (p.Glu218Lys) | Progressive familial heart block type IB [RCV003504275] | uncertain significance | 19 | 49168592 | 49168592 | Human | 1 | name |
| 402469947 | CV2892644 | single nucleotide variant | NM_017636.4(TRPM4):c.330G>C (p.Trp110Cys) | Progressive familial heart block type IB [RCV003504260] | uncertain significance | 19 | 49167979 | 49167979 | Human | 1 | name |
| 405130789 | CV2899524 | single nucleotide variant | NM_017636.4(TRPM4):c.500G>T (p.Gly167Val) | Progressive familial heart block type IB [RCV003502113] | uncertain significance | 19 | 49168311 | 49168311 | Human | 1 | name |
| 402466529 | CV2928377 | single nucleotide variant | NM_017636.4(TRPM4):c.439C>G (p.Gln147Glu) | Cardiovascular phenotype [RCV004369451]|Progressive familial heart block type IB [RCV003503299] | uncertain significance | 19 | 49168088 | 49168088 | Human | 1 | name |
| 405039282 | CV2955845 | single nucleotide variant | NM_017636.4(TRPM4):c.866A>G (p.Glu289Gly) | Progressive familial heart block type IB [RCV003609604] | uncertain significance | 19 | 49171585 | 49171585 | Human | 1 | name |
| 405047694 | CV2981735 | single nucleotide variant | NM_017636.4(TRPM4):c.908G>T (p.Gly303Val) | Progressive familial heart block type IB [RCV003610296] | uncertain significance | 19 | 49171627 | 49171627 | Human | 1 | name |
| 405053380 | CV3043537 | single nucleotide variant | NM_017636.4(TRPM4):c.928T>A (p.Cys310Ser) | Progressive familial heart block type IB [RCV003610735] | uncertain significance | 19 | 49171647 | 49171647 | Human | 1 | name |
| 405053856 | CV3044185 | single nucleotide variant | NM_017636.4(TRPM4):c.970G>C (p.Gly324Arg) | Progressive familial heart block type IB [RCV003610776] | uncertain significance | 19 | 49171689 | 49171689 | Human | 1 | name |
| 405041655 | CV3076129 | deletion | NM_017636.4(TRPM4):c.2420del (p.Pro807fs) | Progressive familial heart block type IB [RCV003609833] | uncertain significance | 19 | 49196648 | 49196648 | Human | 1 | name |
| 402516503 | CV3135849 | single nucleotide variant | NM_017636.4(TRPM4):c.914G>A (p.Gly305Glu) | Progressive familial heart block type IB [RCV003824475] | uncertain significance | 19 | 49171633 | 49171633 | Human | 1 | name |
| 405078531 | CV3137029 | single nucleotide variant | NM_017636.4(TRPM4):c.3339T>G (p.Leu1113=) | Progressive familial heart block type IB [RCV003833928] | likely benign | 19 | 49210720 | 49210720 | Human | 1 | name |
| 405039593 | CV3141000 | single nucleotide variant | NM_017636.4(TRPM4):c.997G>T (p.Asp333Tyr) | Progressive familial heart block type IB [RCV003831293]|not provided [RCV004775515] | uncertain significance | 19 | 49171716 | 49171716 | Human | 1 | name |
| 405068787 | CV3145221 | single nucleotide variant | NM_017636.4(TRPM4):c.3363G>C (p.Leu1121=) | Progressive familial heart block type IB [RCV003850806] | likely benign | 19 | 49210744 | 49210744 | Human | 1 | name |
| 405170965 | CV3150046 | single nucleotide variant | NM_017636.4(TRPM4):c.3198C>A (p.Ile1066=) | Progressive familial heart block type IB [RCV003841517] | likely benign | 19 | 49210275 | 49210275 | Human | 1 | name |
| 405709187 | CV3381461 | single nucleotide variant | NM_017636.4(TRPM4):c.443G>A (p.Ser148Asn) | Cardiovascular phenotype [RCV004522195] | uncertain significance | 19 | 49168092 | 49168092 | Human | | name |
| 405709196 | CV3381463 | single nucleotide variant | NM_017636.4(TRPM4):c.485T>C (p.Ile162Thr) | Cardiovascular phenotype [RCV004522197] | uncertain significance | 19 | 49168296 | 49168296 | Human | | name |
| 405709203 | CV3381465 | single nucleotide variant | NM_017636.4(TRPM4):c.581T>C (p.Val194Ala) | Cardiovascular phenotype [RCV004522199] | uncertain significance | 19 | 49168392 | 49168392 | Human | | name |
| 405709224 | CV3381469 | single nucleotide variant | NM_017636.4(TRPM4):c.920C>G (p.Ala307Gly) | Cardiovascular phenotype [RCV004522203] | uncertain significance | 19 | 49171639 | 49171639 | Human | | name |
| 405709228 | CV3381470 | single nucleotide variant | NM_017636.4(TRPM4):c.970G>A (p.Gly324Arg) | Cardiovascular phenotype [RCV004522204] | uncertain significance | 19 | 49171689 | 49171689 | Human | | name |
| 405709231 | CV3381471 | single nucleotide variant | NM_017636.4(TRPM4):c.982C>G (p.Gln328Glu) | Cardiovascular phenotype [RCV004522205] | uncertain significance | 19 | 49171701 | 49171701 | Human | | name |
| 407527687 | CV3488829 | single nucleotide variant | NM_017636.4(TRPM4):c.337C>A (p.Arg113Ser) | Cardiovascular phenotype [RCV004680102] | uncertain significance | 19 | 49167986 | 49167986 | Human | | name |
| 407527691 | CV3488831 | single nucleotide variant | NM_017636.4(TRPM4):c.3216G>T (p.Arg1072=) | Cardiovascular phenotype [RCV004680104] | likely benign | 19 | 49210293 | 49210293 | Human | | name |
| 407527711 | CV3488845 | single nucleotide variant | NM_017636.4(TRPM4):c.304G>C (p.Val102Leu) | Cardiovascular phenotype [RCV004680118] | uncertain significance | 19 | 49167953 | 49167953 | Human | | name |
| 407527716 | CV3488848 | single nucleotide variant | NM_017636.4(TRPM4):c.3246C>T (p.Ile1082=) | Cardiovascular phenotype [RCV004680121] | likely benign | 19 | 49210323 | 49210323 | Human | | name |
| 407508296 | CV3496353 | deletion | NM_017636.4(TRPM4):c.2245del (p.Val749fs) | not provided [RCV004698194] | uncertain significance | 19 | 49196470 | 49196470 | Human | | name |
| 408391297 | CV3527952 | single nucleotide variant | NM_017636.4(TRPM4):c.802G>A (p.Gly268Arg) | not provided [RCV004775224] | uncertain significance | 19 | 49171362 | 49171362 | Human | | name |
| 597713493 | CV3622020 | single nucleotide variant | NM_017636.4(TRPM4):c.709G>A (p.Asp237Asn) | Cardiovascular phenotype [RCV004991037] | uncertain significance | 19 | 49168649 | 49168649 | Human | | name |
| 597713563 | CV3622033 | single nucleotide variant | NM_017636.4(TRPM4):c.777G>T (p.Gln259His) | Cardiovascular phenotype [RCV004991050] | uncertain significance | 19 | 49168717 | 49168717 | Human | | name |
| 597713605 | CV3622041 | single nucleotide variant | NM_017636.4(TRPM4):c.3480A>G (p.Lys1160=) | Cardiovascular phenotype [RCV004991058] | likely benign | 19 | 49211033 | 49211033 | Human | | name |
| 597713646 | CV3622049 | single nucleotide variant | NM_017636.4(TRPM4):c.535G>A (p.Gly179Arg) | Cardiovascular phenotype [RCV004991066] | uncertain significance | 19 | 49168346 | 49168346 | Human | | name |
| 597657024 | CV3731635 | single nucleotide variant | NM_017636.4(TRPM4):c.785C>A (p.Thr262Lys) | not provided [RCV005001816] | uncertain significance | 19 | 49168725 | 49168725 | Human | | name |
| 597939304 | CV3756808 | deletion | NM_017636.4(TRPM4):c.1220del (p.Asp407fs) | Progressive familial heart block type IB [RCV005077189] | uncertain significance | 19 | 49181418 | 49181418 | Human | 1 | name |
| 597945397 | CV3776857 | single nucleotide variant | NM_017636.4(TRPM4):c.569C>A (p.Pro190His) | Progressive familial heart block type IB [RCV005119712] | uncertain significance | 19 | 49168380 | 49168380 | Human | 1 | name |
| 597927236 | CV3783401 | single nucleotide variant | NM_017636.4(TRPM4):c.927C>G (p.Asp309Glu) | Progressive familial heart block type IB [RCV005116088] | uncertain significance | 19 | 49171646 | 49171646 | Human | 1 | name |
| 597937416 | CV3787874 | single nucleotide variant | NM_017636.4(TRPM4):c.770T>C (p.Ile257Thr) | Progressive familial heart block type IB [RCV005132753] | uncertain significance | 19 | 49168710 | 49168710 | Human | 1 | name |
| 597963136 | CV3791864 | single nucleotide variant | NM_017636.4(TRPM4):c.781A>G (p.Lys261Glu) | Progressive familial heart block type IB [RCV005139420] | uncertain significance | 19 | 49168721 | 49168721 | Human | 1 | name |
| 597865794 | CV3792676 | single nucleotide variant | NM_017636.4(TRPM4):c.3309C>T (p.Ser1103=) | Progressive familial heart block type IB [RCV005147483] | likely benign | 19 | 49210386 | 49210386 | Human | 1 | name |
| 597955683 | CV3796268 | single nucleotide variant | NM_017636.4(TRPM4):c.619T>A (p.Phe207Ile) | Progressive familial heart block type IB [RCV005137085] | uncertain significance | 19 | 49168559 | 49168559 | Human | 1 | name |
| 597889464 | CV3804841 | single nucleotide variant | NM_017636.4(TRPM4):c.302C>T (p.Ala101Val) | Progressive familial heart block type IB [RCV005151103] | uncertain significance | 19 | 49167951 | 49167951 | Human | 1 | name |
| 597852890 | CV3805739 | single nucleotide variant | NM_017636.4(TRPM4):c.475C>T (p.His159Tyr) | Progressive familial heart block type IB [RCV005145669] | uncertain significance | 19 | 49168286 | 49168286 | Human | 1 | name |
| 597917160 | CV3811033 | single nucleotide variant | NM_017636.4(TRPM4):c.3474A>C (p.Ala1158=) | Progressive familial heart block type IB [RCV005155068] | likely benign | 19 | 49211027 | 49211027 | Human | 1 | name |
| 597952040 | CV3815686 | single nucleotide variant | NM_017636.4(TRPM4):c.442A>G (p.Ser148Gly) | Progressive familial heart block type IB [RCV005161439] | uncertain significance | 19 | 49168091 | 49168091 | Human | 1 | name |
| 597859201 | CV3817121 | single nucleotide variant | NM_017636.4(TRPM4):c.871G>A (p.Ala291Thr) | Progressive familial heart block type IB [RCV005146502] | uncertain significance | 19 | 49171590 | 49171590 | Human | 1 | name |
| 597901253 | CV3835500 | single nucleotide variant | NM_017636.4(TRPM4):c.583C>T (p.Arg195Trp) | Progressive familial heart block type IB [RCV005181224] | uncertain significance | 19 | 49168394 | 49168394 | Human | 1 | name |
| 597871626 | CV3835722 | deletion | NM_017636.4(TRPM4):c.2851del (p.Leu951fs) | Progressive familial heart block type IB [RCV005176713] | uncertain significance | 19 | 49200683 | 49200683 | Human | 1 | name |
| 597955257 | CV3841192 | single nucleotide variant | NM_017636.4(TRPM4):c.3223C>T (p.Leu1075=) | Cardiovascular phenotype [RCV005303519]|Progressive familial heart block type IB [RCV005191311] | likely benign | 19 | 49210300 | 49210300 | Human | 1 | name |
| 597963367 | CV3841506 | single nucleotide variant | NM_017636.4(TRPM4):c.403C>T (p.Gln135Ter) | Progressive familial heart block type IB [RCV005193610] | uncertain significance | 19 | 49168052 | 49168052 | Human | 1 | name |
| 597916166 | CV3845734 | deletion | NM_017636.4(TRPM4):c.16_18del (p.Lys6del) | Progressive familial heart block type IB [RCV005183529] | uncertain significance | 19 | 49157880 | 49157882 | Human | 1 | name |
| 597857121 | CV3849823 | single nucleotide variant | NM_017636.4(TRPM4):c.916G>C (p.Gly306Arg) | Progressive familial heart block type IB [RCV005195332] | uncertain significance | 19 | 49171635 | 49171635 | Human | 1 | name |
| 597911906 | CV3850594 | single nucleotide variant | NM_017636.4(TRPM4):c.3117C>T (p.Leu1039=) | Progressive familial heart block type IB [RCV005203742] | likely benign | 19 | 49202127 | 49202127 | Human | 1 | name |
| 597900170 | CV3850908 | single nucleotide variant | NM_017636.4(TRPM4):c.952A>T (p.Thr318Ser) | Progressive familial heart block type IB [RCV005201892] | uncertain significance | 19 | 49171671 | 49171671 | Human | 1 | name |
| 597949559 | CV3852976 | single nucleotide variant | NM_017636.4(TRPM4):c.3234C>T (p.Pro1078=) | Progressive familial heart block type IB [RCV005189857] | likely benign | 19 | 49210311 | 49210311 | Human | 1 | name |
| 597886016 | CV3854880 | single nucleotide variant | NM_017636.4(TRPM4):c.863T>C (p.Ile288Thr) | Progressive familial heart block type IB [RCV005199725] | uncertain significance | 19 | 49171582 | 49171582 | Human | 1 | name |
| 597878049 | CV3860350 | single nucleotide variant | NM_017636.4(TRPM4):c.811A>G (p.Ile271Val) | Progressive familial heart block type IB [RCV005198559] | uncertain significance | 19 | 49171371 | 49171371 | Human | 1 | name |
| 597831963 | CV3864012 | single nucleotide variant | NM_017636.4(TRPM4):c.755G>C (p.Arg252Pro) | Progressive familial heart block type IB [RCV005208428] | uncertain significance | 19 | 49168695 | 49168695 | Human | 1 | name |
| 598236826 | CV3932167 | single nucleotide variant | NM_017636.4(TRPM4):c.648C>G (p.Asp216Glu) | Cardiovascular phenotype [RCV005296112] | uncertain significance | 19 | 49168588 | 49168588 | Human | | name |
| 598215253 | CV3932169 | single nucleotide variant | NM_017636.4(TRPM4):c.496G>A (p.Val166Ile) | Cardiovascular phenotype [RCV005292679] | uncertain significance | 19 | 49168307 | 49168307 | Human | | name |
| 598236840 | CV3932182 | single nucleotide variant | NM_017636.4(TRPM4):c.3066G>C (p.Leu1022=) | Cardiovascular phenotype [RCV005296117] | likely benign | 19 | 49202076 | 49202076 | Human | | name |
| 598215280 | CV3932188 | single nucleotide variant | NM_017636.4(TRPM4):c.566C>A (p.Ala189Asp) | Cardiovascular phenotype [RCV005292690] | uncertain significance | 19 | 49168377 | 49168377 | Human | | name |
| 598236856 | CV3932191 | single nucleotide variant | NM_017636.4(TRPM4):c.502G>A (p.Val168Met) | Cardiovascular phenotype [RCV005296122] | uncertain significance | 19 | 49168313 | 49168313 | Human | | name |
| 616937569 | CV4011219 | single nucleotide variant | NM_017636.4(TRPM4):c.3210C>T (p.His1070=) | not specified [RCV005405065] | likely benign | 19 | 49210287 | 49210287 | Human | | name |
| 616938588 | CV4013261 | single nucleotide variant | NM_017636.4(TRPM4):c.773C>T (p.Ser258Leu) | not provided [RCV005410728] | uncertain significance | 19 | 49168713 | 49168713 | Human | | name |
| 617153431 | CV4018525 | single nucleotide variant | NM_017636.4(TRPM4):c.661G>T (p.Val221Phe) | not specified [RCV005418786] | uncertain significance | 19 | 49168601 | 49168601 | Human | | name |
| 8602641 | CV44161 | single nucleotide variant | NM_017636.4(TRPM4):c.490C>T (p.Arg164Trp) | Cardiovascular phenotype [RCV002345254]|Progressive familial heart block type IB [RCV000029160] | pathogenic|uncertain significance | 19 | 49168301 | 49168301 | Human | 1 | name |
| 8636929 | CV92154 | single nucleotide variant | NM_017636.4(TRPM4):c.3556C>T (p.Leu1186=) | Progressive familial heart block type IB [RCV003851753] | likely benign|not provided | 19 | 49211185 | 49211185 | Human | 1 | name |
| 150557298 | CV1310677 | single nucleotide variant | NM_017636.4(TRPM4):c.2820G>T (p.Trp940Cys) | Cardiovascular phenotype [RCV002440869]|Progressive familial heart block type IB [RCV001885130]|TRPM4-related disorder [RCV004733379]|not provided [RCV001776411] | likely benign|uncertain significance | 19 | 49200652 | 49200652 | Human | 1 | alternate_id |
| 9832564 | CV178748 | single nucleotide variant | NM_017636.4(TRPM4):c.1682A>C (p.Asp561Ala) | Arrhythmogenic right ventricular cardiomyopathy [RCV000852761]|Cardiovascular phenotype [RCV000620360]|Progressive familial heart block type IB [RCV001001338]|TRPM4-related disorder [RCV004535027]|Ventricular fibrillation [RCV000157549]|not provided [RCV00181213 5]|not specified [RCV000438955] | benign|likely benign|uncertain significance | 19 | 49183151 | 49183151 | Human | 5 | alternate_id |
| 155739495 | CV1801743 | single nucleotide variant | NM_017636.4(TRPM4):c.1180C>G (p.Leu394Val) | Cardiovascular phenotype [RCV002342603]|Progressive familial heart block type IB [RCV003096394]|TRPM4-related disorder [RCV004534061]|not specified [RCV004690289] | uncertain significance | 19 | 49181378 | 49181378 | Human | 1 | alternate_id |
| 156062861 | CV1925733 | single nucleotide variant | NM_017636.4(TRPM4):c.542C>T (p.Thr181Ile) | Cardiovascular phenotype [RCV004992532]|Progressive familial heart block type IB [RCV002621007]|TRPM4-related disorder [RCV004733597] | uncertain significance | 19 | 49168353 | 49168353 | Human | 1 | alternate_id |
| 10768260 | CV222811 | single nucleotide variant | NM_017636.4(TRPM4):c.301G>A (p.Ala101Thr) | Cardiovascular phenotype [RCV000619013]|Progressive familial heart block type IB [RCV000206109]|TRPM4-related disorder [RCV004530243]|not provided [RCV003422113]|not specified [RCV000440103] | benign|likely benign | 19 | 49167950 | 49167950 | Human | 1 | alternate_id |
| 11039951 | CV224554 | single nucleotide variant | NM_017636.4(TRPM4):c.308A>G (p.Tyr103Cys) | Brugada syndrome [RCV003448288]|Cardiovascular phenotype [RCV000617330]|Progressive familial heart block type IB [RCV001082907]|TRPM4-related disorder [RCV004530252]|not provided [RCV000231318]|not specified [RCV000208070] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49167957 | 49167957 | Human | 3 | alternate_id |
| 11350026 | CV243379 | deletion | NM_017636.4(TRPM4):c.1459_1494del (p.Lys487_Leu498del) | Brugada syndrome [RCV000496011]|Cardiomyopathy [RCV000852760]|Cardiovascular phenotype [RCV000620470]|Progressive familial heart block type IB [RCV001001639]|TRPM4-related disorder [RCV004541447]|not provided [RCV001706269]|not specified [RCV003330601] | benign|likely benign|uncertain significance | 19 | 49182772 | 49182807 | Human | 5 | alternate_id |
| 11346125 | CV243381 | single nucleotide variant | NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter) | Cardiomyopathy [RCV000852765]|Cardiovascular phenotype [RCV002436037]|Progressive familial heart block type IB [RCV001084074]|Progressive familial heart block type IB [RCV005396815]|TRPM4-related disorder [RCV000387261]|not provided [RCV000419640] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49200394 | 49200394 | Human | 4 | alternate_id |
| 401868913 | CV2784103 | single nucleotide variant | NM_017636.4(TRPM4):c.2542G>C (p.Gly848Arg) | Cardiovascular phenotype [RCV003380392]|TRPM4-related disorder [RCV004529631] | uncertain significance | 19 | 49196771 | 49196771 | Human | 1 | alternate_id |
| 405284198 | CV3196693 | single nucleotide variant | NM_017636.4(TRPM4):c.3219C>T (p.Pro1073=) | TRPM4-related disorder [RCV004542526] | likely benign | 19 | 49210296 | 49210296 | Human | 1 | trait , alternate_id |
| 405277069 | CV3198710 | single nucleotide variant | NM_017636.4(TRPM4):c.2542G>A (p.Gly848Ser) | TRPM4-related disorder [RCV004536960] | uncertain significance | 19 | 49196771 | 49196771 | Human | 1 | trait , alternate_id |
| 11625814 | CV343989 | single nucleotide variant | NM_017636.4(TRPM4):c.988G>A (p.Glu330Lys) | Cardiovascular phenotype [RCV002379216]|Progressive familial heart block type IB [RCV000864968]|TRPM4-related disorder [RCV004544598]|not provided [RCV001705496]|not specified [RCV000431456] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49171707 | 49171707 | Human | 1 | alternate_id |
| 11626205 | CV349255 | single nucleotide variant | NM_017636.4(TRPM4):c.2231A>T (p.Lys744Met) | Cardiovascular phenotype [RCV004992177]|Progressive familial heart block type IB [RCV000645470]|TRPM4-related disorder [RCV004537835]|not specified [RCV005238913] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49196460 | 49196460 | Human | 1 | alternate_id |
| 408382620 | CV3503523 | single nucleotide variant | NM_017636.4(TRPM4):c.1129G>A (p.Val377Ile) | TRPM4-related disorder [RCV004730033] | uncertain significance | 19 | 49172087 | 49172087 | Human | 1 | trait , alternate_id |
| 408376228 | CV3505687 | indel | NM_017636.4(TRPM4):c.749_750delinsTT (p.Arg250Leu) | TRPM4-related disorder [RCV004726644] | uncertain significance | 19 | 49168689 | 49168690 | Human | | trait , alternate_id |
| 12741084 | CV360403 | single nucleotide variant | NM_017636.4(TRPM4):c.2254C>T (p.Gln752Ter) | Cardiovascular phenotype [RCV000618995]|Progressive familial heart block type IB [RCV000645473]|TRPM4-related disorder [RCV004544727]|not provided [RCV003422382]|not specified [RCV000414033] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49196483 | 49196483 | Human | 1 | alternate_id |
| 12837206 | CV376642 | single nucleotide variant | NM_017636.4(TRPM4):c.2561A>G (p.Gln854Arg) | Cardiovascular phenotype [RCV002429383]|Long QT syndrome [RCV003318376]|Progressive familial heart block type IB [RCV000538303]|TRPM4-related disorder [RCV004533001]|not provided [RCV001703669]|not specified [RCV003488591] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49196790 | 49196790 | Human | 3 | alternate_id |
| 12844986 | CV377837 | single nucleotide variant | NM_017636.4(TRPM4):c.3450C>T (p.Arg1150=) | Cardiovascular phenotype [RCV000618280]|Progressive familial heart block type IB [RCV001312760]|TRPM4-related disorder [RCV004732882]|not provided [RCV000438995] | likely benign|uncertain significance | 19 | 49210831 | 49210831 | Human | 1 | alternate_id |
| 8602642 | CV44162 | single nucleotide variant | NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) | Cardiovascular phenotype [RCV000249699]|Progressive familial heart block type IB [RCV000029161]|TRPM4-related disorder [RCV004541017]|not provided [RCV000434894]|not specified [RCV004526600] | pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49196760 | 49196760 | Human | 1 | alternate_id |
| 13500723 | CV470377 | single nucleotide variant | NM_017636.4(TRPM4):c.1376G>A (p.Arg459His) | Cardiovascular phenotype [RCV002384174]|Progressive familial heart block type IB [RCV000538128]|TRPM4-related disorder [RCV004541720]|not provided [RCV003317271]|not specified [RCV005404678] | likely benign|uncertain significance | 19 | 49182690 | 49182690 | Human | 1 | alternate_id |
| 13497506 | CV470390 | single nucleotide variant | NM_017636.4(TRPM4):c.1756G>C (p.Val586Leu) | Cardiovascular phenotype [RCV002404489]|Progressive familial heart block type IB [RCV000524939]|Progressive familial heart block type IB [RCV002491064]|TRPM4-related disorder [RCV004538016]|not provided [RCV001539138] | uncertain significance | 19 | 49188653 | 49188653 | Human | 2 | alternate_id |
| 13466194 | CV471078 | single nucleotide variant | NM_017636.4(TRPM4):c.2209G>A (p.Gly737Arg) | Cardiovascular phenotype [RCV002431644]|Hypertrophic cardiomyopathy [RCV000852762]|Progressive familial heart block type IB [RCV000550136]|TRPM4-related disorder [RCV004538017]|not provided [RCV001811055]|not specified [RCV000604082] | benign|likely benign|conflicting interpretations of pathogenicity | 19 | 49190772 | 49190772 | Human | 3 | alternate_id |
| 13540116 | CV506927 | single nucleotide variant | NM_017636.4(TRPM4):c.2156G>A (p.Arg719Gln) | Cardiovascular phenotype [RCV002431781]|Progressive familial heart block type IB [RCV000645472]|TRPM4-related disorder [RCV004530788]|not provided [RCV004704117]|not specified [RCV000614256] | likely benign | 19 | 49190719 | 49190719 | Human | 1 | alternate_id |
| 150456617 | CV1219511 | deletion | NM_017636.4(TRPM4):c.1264-325_1264-322del | not provided [RCV001612726] | benign | 19 | 49182251 | 49182254 | Human | | name |
| 150499841 | CV1283031 | deletion | NM_017636.4(TRPM4):c.1264-102_1264-101del | not provided [RCV001718268] | benign | 19 | 49182476 | 49182477 | Human | | name |
| 150443359 | CV1232570 | insertion | NM_017636.4(TRPM4):c.2953+219_2953+220insCT | not provided [RCV001645538] | benign | 19 | 49201003 | 49201004 | Human | | name |
| 156099738 | CV2007717 | insertion | NM_017636.4(TRPM4):c.1050+16_1050+17insTGGC | Progressive familial heart block type IB [RCV002695259] | likely benign | 19 | 49171782 | 49171783 | Human | 1 | name |
| 41405344 | CV982188 | insertion | NM_017636.4(TRPM4):c.1050+15_1050+16insGCGG | none provided [RCV001286046] | benign | 19 | 49171782 | 49171783 | Human | | name |
| 150489709 | CV1250906 | insertion | NM_017636.4(TRPM4):c.1264-330_1264-329insTGTC | not provided [RCV001674573] | benign | 19 | 49182246 | 49182247 | Human | | name |
| 150495657 | CV1283017 | insertion | NM_017636.4(TRPM4):c.1264-334_1264-333insTGTC | not provided [RCV001717431] | benign | 19 | 49182242 | 49182243 | Human | | name |
| 151838220 | CV1468253 | microsatellite | NM_017636.4(TRPM4):c.1608+25_1608+26insAGGGGGG | Progressive familial heart block type IB [RCV001956422] | likely benign | 19 | 49182941 | 49182942 | Human | | name |
| 150409200 | CV1178411 | insertion | NM_017636.4(TRPM4):c.1264-330_1264-329insTGTCCATC | not provided [RCV001546169] | likely benign | 19 | 49182242 | 49182243 | Human | | name |
| 126766429 | CV1013838 | duplication | NM_017636.4(TRPM4):c.2295dup (p.Arg766fs) | Cardiovascular phenotype [RCV002447354]|Progressive familial heart block type IB [RCV001320440]|not provided [RCV001569749] | uncertain significance | 19 | 49196518 | 49196519 | Human | 1 | name |
| 127254965 | CV1106646 | single nucleotide variant | NM_017636.4(TRPM4):c.885G>T (p.Gln295His) | Cardiovascular phenotype [RCV002377681]|Progressive familial heart block type IB [RCV001426408]|not provided [RCV001558690] | likely benign | 19 | 49171604 | 49171604 | Human | 1 | name |
| 127337718 | CV1128044 | single nucleotide variant | NM_017636.4(TRPM4):c.3339T>C (p.Leu1113=) | Progressive familial heart block type IB [RCV001475818] | likely benign | 19 | 49210720 | 49210720 | Human | 1 | name |
| 155683652 | CV1792485 | single nucleotide variant | NM_017636.4(TRPM4):c.3453G>A (p.Thr1151=) | Cardiovascular phenotype [RCV002457218]|Progressive familial heart block type IB [RCV003099495] | likely benign | 19 | 49210834 | 49210834 | Human | 1 | name |
| 11631231 | CV349247 | single nucleotide variant | NM_017636.4(TRPM4):c.748C>T (p.Arg250Cys) | Cardiovascular phenotype [RCV002392886]|Progressive familial heart block type IB [RCV000866194]|not provided [RCV001532389] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 49168688 | 49168688 | Human | 1 | name |
| 13211278 | CV419291 | single nucleotide variant | NM_017636.4(TRPM4):c.739A>T (p.Asn247Tyr) | Hypertrophic cardiomyopathy [RCV000498985] | uncertain significance | 19 | 49168679 | 49168679 | Human | 2 | name |
| 14723982 | CV648238 | single nucleotide variant | NM_017636.4(TRPM4):c.982C>T (p.Gln328Ter) | Progressive familial heart block type IB [RCV000798209] | uncertain significance | 19 | 49171701 | 49171701 | Human | 1 | name |