| 9690990 | CV173797 | single nucleotide variant | NM_000258.3(MYL3):c.*5C>T | Cardiomyopathy [RCV001179114]|Hypertrophic cardiomyopathy 8 [RCV001148454]|not specified [RCV000156688] | benign|uncertain significance | 3 | 46858239 | 46858239 | Human | 3 | name , alternate_id |
| 9693494 | CV173937 | single nucleotide variant | NM_000258.3(MYL3):c.*9C>T | MYL3-related disorder [RCV003917515]|not specified [RCV000154779] | benign|likely benign|conflicting interpretations of pathogenicity|not provided | 3 | 46858235 | 46858235 | Human | 1 | name , trait , alternate_id |
| 405704986 | CV3231583 | single nucleotide variant | NM_000258.3(MYL3):c.-6C>T | Hypertrophic cardiomyopathy [RCV004010126] | uncertain significance | 3 | 46863396 | 46863396 | Human | 2 | name |
| 405712501 | CV3231849 | single nucleotide variant | NM_000258.3(MYL3):c.*1A>C | Hypertrophic cardiomyopathy [RCV004011879] | uncertain significance | 3 | 46858243 | 46858243 | Human | 2 | name |
| 596943122 | CV3546510 | single nucleotide variant | NM_000258.3(MYL3):c.*5C>G | Hypertrophic cardiomyopathy [RCV004807634] | uncertain significance | 3 | 46858239 | 46858239 | Human | 2 | name |
| 34899205 | CV909648 | single nucleotide variant | NM_000258.3(MYL3):c.*6G>A | Cardiomyopathy [RCV001187982] | uncertain significance | 3 | 46858238 | 46858238 | Human | 2 | name |
| 34890941 | CV909649 | single nucleotide variant | NM_000258.3(MYL3):c.*3C>T | Cardiomyopathy [RCV001182310]|Hypertrophic cardiomyopathy [RCV004008289] | benign | 3 | 46858241 | 46858241 | Human | 4 | name |
| 8688937 | CV136724 | single nucleotide variant | NM_000258.3(MYL3):c.*27G>A | not provided [RCV000119377]|not specified [RCV000422445] | likely benign|not provided | 3 | 46858088 | 46858088 | Human | | name |
| 8692139 | CV142105 | single nucleotide variant | NM_000258.3(MYL3):c.-27C>T | not specified [RCV000127036] | benign | 3 | 46863417 | 46863417 | Human | | name |
| 155267373 | CV1699580 | single nucleotide variant | NM_000258.3(MYL3):c.-15T>A | Cardiomyopathy [RCV003533155]|not specified [RCV002283373] | uncertain significance | 3 | 46863405 | 46863405 | Human | 2 | name |
| 155804250 | CV1866688 | single nucleotide variant | NM_000258.3(MYL3):c.*13G>A | Hypertrophic cardiomyopathy 8 [RCV002496213] | uncertain significance | 3 | 46858231 | 46858231 | Human | 1 | name , alternate_id |
| 11587850 | CV295253 | single nucleotide variant | NM_000258.3(MYL3):c.*89G>A | Hypertrophic cardiomyopathy 8 [RCV000298114]|not provided [RCV001636964] | benign|likely benign | 3 | 46858026 | 46858026 | Human | 1 | name , alternate_id |
| 11590936 | CV295257 | single nucleotide variant | NM_000258.2(MYL3):c.-90C>T | Hypertrophic cardiomyopathy 8 [RCV000324050]|not provided [RCV001672631] | benign|likely benign|uncertain significance | 3 | 46863480 | 46863480 | Human | 1 | name , alternate_id |
| 28882891 | CV889128 | single nucleotide variant | NM_000258.3(MYL3):c.-33T>C | Hypertrophic cardiomyopathy 8 [RCV001150032] | uncertain significance | 3 | 46863423 | 46863423 | Human | 1 | name , alternate_id |
| 11647358 | CV291660 | single nucleotide variant | NM_000258.3(MYL3):c.*205C>A | Hypertrophic cardiomyopathy [RCV000276123] | uncertain significance | 3 | 46857910 | 46857910 | Human | 2 | name |
| 14741362 | CV660196 | single nucleotide variant | NM_000258.2(MYL3):c.-377G>A | not provided [RCV000840753] | likely benign | 3 | 46863767 | 46863767 | Human | | name |
| 28871133 | CV889125 | single nucleotide variant | NM_000258.3(MYL3):c.*140C>T | Hypertrophic cardiomyopathy 8 [RCV001145694] | uncertain significance | 3 | 46857975 | 46857975 | Human | 1 | name , alternate_id |
| 28871135 | CV889126 | single nucleotide variant | NM_000258.3(MYL3):c.*112C>A | Hypertrophic cardiomyopathy 8 [RCV001145695] | uncertain significance | 3 | 46858003 | 46858003 | Human | 1 | name , alternate_id |
| 126742563 | CV1004789 | single nucleotide variant | NM_000258.3(MYL3):c.130-1G>A | Hypertrophic cardiomyopathy [RCV001325501] | uncertain significance | 3 | 46860988 | 46860988 | Human | 2 | name |
| 127246108 | CV1092510 | single nucleotide variant | NM_000258.3(MYL3):c.308-9T>C | Hypertrophic cardiomyopathy [RCV001424463] | likely benign | 3 | 46859657 | 46859657 | Human | 2 | name |
| 127323279 | CV1160514 | single nucleotide variant | NM_000258.3(MYL3):c.158-8C>T | Cardiomyopathy [RCV001523958] | likely benign | 3 | 46860833 | 46860833 | Human | 2 | name |
| 150436144 | CV1274511 | deletion | NM_000258.3(MYL3):c.158-4del | not provided [RCV001724402]|not specified [RCV001699693] | benign|likely benign | 3 | 46860829 | 46860829 | Human | | name |
| 151350951 | CV1323203 | single nucleotide variant | NM_000258.3(MYL3):c.307+3A>G | Cardiomyopathy [RCV001805531]|Hypertrophic cardiomyopathy [RCV003772246] | uncertain significance | 3 | 46860673 | 46860673 | Human | 4 | name |
| 8688948 | CV136735 | single nucleotide variant | NM_000258.3(MYL3):c.482-2A>G | not provided [RCV000119397] | not provided | 3 | 46858463 | 46858463 | Human | | name |
| 151794132 | CV1420532 | single nucleotide variant | NM_000258.3(MYL3):c.157+1G>A | Hypertrophic cardiomyopathy 8 [RCV002246660]|Hypertrophic cardiomyopathy [RCV002027494] | pathogenic|uncertain significance | 3 | 46860959 | 46860959 | Human | 3 | name , alternate_id |
| 151722557 | CV1422025 | single nucleotide variant | NM_000258.3(MYL3):c.560-1G>C | Hypertrophic cardiomyopathy [RCV001909942] | uncertain significance | 3 | 46858273 | 46858273 | Human | 2 | name |
| 151870481 | CV1466507 | single nucleotide variant | NM_000258.3(MYL3):c.158-2A>G | Hypertrophic cardiomyopathy 8 [RCV002490208]|Hypertrophic cardiomyopathy [RCV001906412] | uncertain significance | 3 | 46860827 | 46860827 | Human | 3 | name , alternate_id |
| 151865406 | CV1495100 | deletion | NM_000258.3(MYL3):c.157+6del | Hypertrophic cardiomyopathy [RCV001980654] | uncertain significance | 3 | 46860954 | 46860954 | Human | 2 | name |
| 9691990 | CV173938 | single nucleotide variant | NM_000258.3(MYL3):c.482-1G>A | not specified [RCV000151368] | uncertain significance | 3 | 46858462 | 46858462 | Human | | name |
| 9832446 | CV178528 | single nucleotide variant | NM_000258.3(MYL3):c.482-6T>C | Primary familial hypertrophic cardiomyopathy [RCV000157373] | uncertain significance | 3 | 46858467 | 46858467 | Human | 1 | name |
| 156197450 | CV1885917 | single nucleotide variant | NM_000258.3(MYL3):c.157+9G>C | Hypertrophic cardiomyopathy [RCV003084090] | likely benign | 3 | 46860951 | 46860951 | Human | 2 | name |
| 155973749 | CV1889733 | single nucleotide variant | NM_000258.3(MYL3):c.307+4G>C | Hypertrophic cardiomyopathy [RCV003075305] | uncertain significance | 3 | 46860672 | 46860672 | Human | 2 | name |
| 156090355 | CV1963102 | single nucleotide variant | NM_000258.3(MYL3):c.560-7T>C | Hypertrophic cardiomyopathy [RCV002570201] | likely benign | 3 | 46858279 | 46858279 | Human | 2 | name |
| 156004787 | CV2054241 | single nucleotide variant | NM_000258.3(MYL3):c.158-3C>A | Hypertrophic cardiomyopathy [RCV002819828] | uncertain significance | 3 | 46860828 | 46860828 | Human | 2 | name |
| 156330765 | CV2065308 | single nucleotide variant | NM_000258.3(MYL3):c.559+2T>C | Hypertrophic cardiomyopathy [RCV002835286] | uncertain significance | 3 | 46858382 | 46858382 | Human | 2 | name |
| 11040084 | CV224281 | single nucleotide variant | NM_000258.3(MYL3):c.560-3C>T | Primary familial hypertrophic cardiomyopathy [RCV000208325] | uncertain significance | 3 | 46858275 | 46858275 | Human | 1 | name |
| 405168513 | CV2898030 | single nucleotide variant | NM_000258.3(MYL3):c.481+4A>G | Hypertrophic cardiomyopathy [RCV003587374] | uncertain significance | 3 | 46859471 | 46859471 | Human | 2 | name |
| 404985445 | CV2934720 | single nucleotide variant | NM_000258.3(MYL3):c.307+4G>T | Cardiomyopathy [RCV003532750]|Hypertrophic cardiomyopathy [RCV003748509] | uncertain significance | 3 | 46860672 | 46860672 | Human | 4 | name |
| 11593865 | CV295255 | single nucleotide variant | NM_000258.3(MYL3):c.*13+5G>C | Cardiomyopathy [RCV001798794]|Hypertrophic cardiomyopathy 8 [RCV000352971]|not provided [RCV001726137]|not specified [RCV000616135] | likely benign|uncertain significance | 3 | 46858226 | 46858226 | Human | 3 | name , alternate_id |
| 405715336 | CV3232374 | deletion | NM_000258.3(MYL3):c.307+4del | Hypertrophic cardiomyopathy [RCV004012227] | uncertain significance | 3 | 46860672 | 46860672 | Human | 2 | name |
| 407504441 | CV3454542 | single nucleotide variant | NM_000258.3(MYL3):c.307+2T>C | Cardiovascular phenotype [RCV004645816] | uncertain significance | 3 | 46860674 | 46860674 | Human | | name |
| 596943129 | CV3546514 | single nucleotide variant | NM_000258.3(MYL3):c.307+5T>G | Hypertrophic cardiomyopathy [RCV004807638] | uncertain significance | 3 | 46860671 | 46860671 | Human | 2 | name |
| 596943142 | CV3546521 | single nucleotide variant | NM_000258.3(MYL3):c.158-2A>C | Hypertrophic cardiomyopathy [RCV004807645] | uncertain significance | 3 | 46860827 | 46860827 | Human | 2 | name |
| 12844644 | CV367628 | single nucleotide variant | NM_000258.3(MYL3):c.157+8G>C | Hypertrophic cardiomyopathy [RCV000863716]|not specified [RCV000438357] | benign|likely benign | 3 | 46860952 | 46860952 | Human | 2 | name |
| 597928131 | CV3749097 | single nucleotide variant | NM_000258.3(MYL3):c.129+5G>T | Hypertrophic cardiomyopathy [RCV005075553] | uncertain significance | 3 | 46863257 | 46863257 | Human | 2 | name |
| 597929235 | CV3816047 | single nucleotide variant | NM_000258.3(MYL3):c.559+1G>T | Hypertrophic cardiomyopathy [RCV005156628] | uncertain significance | 3 | 46858383 | 46858383 | Human | 2 | name |
| 597967979 | CV3820796 | single nucleotide variant | NM_000258.3(MYL3):c.559+8C>T | Hypertrophic cardiomyopathy [RCV005165637] | likely benign | 3 | 46858376 | 46858376 | Human | 2 | name |
| 597835953 | CV3828329 | single nucleotide variant | NM_000258.3(MYL3):c.158-4G>T | Hypertrophic cardiomyopathy [RCV005171221] | likely benign | 3 | 46860829 | 46860829 | Human | 2 | name |
| 597905232 | CV3846496 | single nucleotide variant | NM_000258.3(MYL3):c.158-7C>G | Hypertrophic cardiomyopathy [RCV005181923] | likely benign | 3 | 46860832 | 46860832 | Human | 2 | name |
| 8602587 | CV40441 | single nucleotide variant | NM_000258.3(MYL3):c.559+6C>T | Cardiomyopathy [RCV001175856]|Hypertrophic cardiomyopathy [RCV001085158]|not provided [RCV000024472]|not specified [RCV000036032] | benign|likely benign|conflicting interpretations of pathogenicity|not provided | 3 | 46858378 | 46858378 | Human | 4 | name |
| 13470202 | CV452438 | deletion | NM_000258.3(MYL3):c.560-2del | Hypertrophic cardiomyopathy [RCV000545973] | uncertain significance | 3 | 46858274 | 46858274 | Human | 2 | name |
| 13816829 | CV561600 | single nucleotide variant | NM_000258.3(MYL3):c.481+5G>A | Cardiovascular phenotype [RCV002334301]|Hypertrophic cardiomyopathy [RCV000692588] | uncertain significance | 3 | 46859470 | 46859470 | Human | 2 | name |
| 14692542 | CV619193 | single nucleotide variant | NM_000258.3(MYL3):c.482-9T>A | Cardiomyopathy [RCV000774042] | uncertain significance | 3 | 46858470 | 46858470 | Human | 2 | name |
| 14738680 | CV651100 | single nucleotide variant | NM_000258.3(MYL3):c.158-8C>G | Hypertrophic cardiomyopathy [RCV000821030] | likely benign|uncertain significance | 3 | 46860833 | 46860833 | Human | 2 | name |
| 34898079 | CV915371 | single nucleotide variant | NM_000258.3(MYL3):c.560-1G>A | Cardiomyopathy [RCV001179702] | uncertain significance | 3 | 46858273 | 46858273 | Human | 2 | name |
| 34899625 | CV915373 | single nucleotide variant | NM_000258.3(MYL3):c.158-3C>G | Cardiomyopathy [RCV001188719]|Hypertrophic cardiomyopathy 8 [RCV002484032] | uncertain significance | 3 | 46860828 | 46860828 | Human | 3 | name , alternate_id |
| 34898999 | CV915375 | single nucleotide variant | NM_000258.3(MYL3):c.129+1G>T | Cardiomyopathy [RCV001180452] | uncertain significance | 3 | 46863261 | 46863261 | Human | 2 | name |
| 34889109 | CV915659 | single nucleotide variant | NM_000258.3(MYL3):c.130-4T>G | Cardiomyopathy [RCV001181257] | likely benign | 3 | 46860991 | 46860991 | Human | 2 | name |
| 34895993 | CV915747 | single nucleotide variant | NM_000258.3(MYL3):c.157+3G>A | Cardiomyopathy [RCV001178292] | likely benign | 3 | 46860957 | 46860957 | Human | 2 | name |
| 126762328 | CV989608 | single nucleotide variant | NM_000258.3(MYL3):c.308-3C>T | Cardiovascular phenotype [RCV002319697]|Hypertrophic cardiomyopathy 8 [RCV002476434]|Hypertrophic cardiomyopathy [RCV001309851] | uncertain significance | 3 | 46859651 | 46859651 | Human | 3 | name , alternate_id |
| 127258990 | CV1092511 | single nucleotide variant | NM_000258.3(MYL3):c.157+10G>A | Hypertrophic cardiomyopathy [RCV001438272] | likely benign | 3 | 46860950 | 46860950 | Human | 2 | name |
| 127314201 | CV1114030 | single nucleotide variant | NM_000258.3(MYL3):c.560-10T>G | Hypertrophic cardiomyopathy [RCV001464889] | likely benign | 3 | 46858282 | 46858282 | Human | 2 | name |
| 150334795 | CV1164221 | single nucleotide variant | NM_000258.3(MYL3):c.482-18G>A | Hypertrophic cardiomyopathy [RCV005094725]|not provided [RCV001529877]|not specified [RCV005237879] | likely benign | 3 | 46858479 | 46858479 | Human | 2 | name |
| 150418856 | CV1197103 | single nucleotide variant | NM_000258.3(MYL3):c.307+86G>A | not provided [RCV001576921] | likely benign | 3 | 46860590 | 46860590 | Human | | name |
| 150489065 | CV1237583 | single nucleotide variant | NM_000258.3(MYL3):c.560-30T>C | not provided [RCV001654432] | benign | 3 | 46858302 | 46858302 | Human | | name |
| 150483759 | CV1247004 | single nucleotide variant | NM_000258.3(MYL3):c.*13+40G>T | not provided [RCV001673500] | benign | 3 | 46858191 | 46858191 | Human | | name |
| 150484984 | CV1273878 | single nucleotide variant | NM_000258.3(MYL3):c.307+16G>A | Hypertrophic cardiomyopathy 8 [RCV002496013]|Hypertrophic cardiomyopathy [RCV002073257]|not provided [RCV001698618] | benign|likely benign | 3 | 46860660 | 46860660 | Human | 3 | name , alternate_id |
| 150476415 | CV1279248 | single nucleotide variant | NM_000258.3(MYL3):c.307+56T>G | not provided [RCV001713979] | benign | 3 | 46860620 | 46860620 | Human | | name |
| 8692137 | CV142103 | single nucleotide variant | NM_000258.3(MYL3):c.482-17C>T | Hypertrophic cardiomyopathy 8 [RCV005229952]|Hypertrophic cardiomyopathy [RCV002055691]|not provided [RCV001701519]|not specified [RCV000127033] | benign|likely benign | 3 | 46858478 | 46858478 | Human | 3 | name , alternate_id |
| 8692138 | CV142104 | single nucleotide variant | NM_000258.3(MYL3):c.559+19G>A | Hypertrophic cardiomyopathy [RCV002055692]|not specified [RCV000127035] | benign | 3 | 46858365 | 46858365 | Human | 2 | name |
| 152076281 | CV1542831 | single nucleotide variant | NM_000258.3(MYL3):c.482-20C>T | Hypertrophic cardiomyopathy [RCV002130261] | likely benign | 3 | 46858481 | 46858481 | Human | 2 | name |
| 152076113 | CV1551359 | single nucleotide variant | NM_000258.3(MYL3):c.308-17G>C | Hypertrophic cardiomyopathy [RCV002192429] | likely benign | 3 | 46859665 | 46859665 | Human | 2 | name |
| 152139484 | CV1560030 | single nucleotide variant | NM_000258.3(MYL3):c.129+17G>T | Hypertrophic cardiomyopathy [RCV002137986] | likely benign | 3 | 46863245 | 46863245 | Human | 2 | name |
| 152153419 | CV1579304 | single nucleotide variant | NM_000258.3(MYL3):c.129+16G>A | Hypertrophic cardiomyopathy [RCV002158529] | likely benign | 3 | 46863246 | 46863246 | Human | 2 | name |
| 152168889 | CV1598260 | single nucleotide variant | NM_000258.3(MYL3):c.481+15C>T | Hypertrophic cardiomyopathy [RCV002142601] | likely benign | 3 | 46859460 | 46859460 | Human | 2 | name |
| 152095023 | CV1599492 | single nucleotide variant | NM_000258.3(MYL3):c.158-17C>T | Hypertrophic cardiomyopathy [RCV002094722] | likely benign | 3 | 46860842 | 46860842 | Human | 2 | name |
| 152045582 | CV1600160 | single nucleotide variant | NM_000258.3(MYL3):c.307+17A>G | Hypertrophic cardiomyopathy [RCV002088512] | likely benign | 3 | 46860659 | 46860659 | Human | 2 | name |
| 152083181 | CV1647804 | single nucleotide variant | NM_000258.3(MYL3):c.130-12G>T | Hypertrophic cardiomyopathy [RCV002076643] | likely benign | 3 | 46860999 | 46860999 | Human | 2 | name |
| 10045195 | CV188977 | single nucleotide variant | NM_000258.3(MYL3):c.482-10C>T | Cardiomyopathy [RCV005401350]|not provided [RCV000171360] | likely pathogenic|likely benign | 3 | 46858471 | 46858471 | Human | 2 | name |
| 156122096 | CV1892619 | single nucleotide variant | NM_000258.3(MYL3):c.308-16G>A | Hypertrophic cardiomyopathy [RCV003081485] | likely benign | 3 | 46859664 | 46859664 | Human | 2 | name |
| 156312622 | CV1934599 | single nucleotide variant | NM_000258.3(MYL3):c.129+19T>C | Hypertrophic cardiomyopathy [RCV002629866] | likely benign | 3 | 46863243 | 46863243 | Human | 2 | name |
| 156189927 | CV2030228 | single nucleotide variant | NM_000258.3(MYL3):c.560-15T>A | Hypertrophic cardiomyopathy [RCV002765877] | likely benign | 3 | 46858287 | 46858287 | Human | 2 | name |
| 156343174 | CV2099729 | single nucleotide variant | NM_000258.3(MYL3):c.130-14G>A | Hypertrophic cardiomyopathy [RCV002900594] | likely benign | 3 | 46861001 | 46861001 | Human | 2 | name |
| 156353261 | CV2118846 | single nucleotide variant | NM_000258.3(MYL3):c.308-17G>T | Hypertrophic cardiomyopathy [RCV002966457] | likely benign|uncertain significance | 3 | 46859665 | 46859665 | Human | 2 | name |
| 11094181 | CV229099 | single nucleotide variant | NM_000258.3(MYL3):c.307+15C>T | Hypertrophic cardiomyopathy 8 [RCV000603228]|Hypertrophic cardiomyopathy [RCV002054950]|not provided [RCV000586076]|not specified [RCV000220721] | benign|likely benign|conflicting interpretations of pathogenicity | 3 | 46860661 | 46860661 | Human | 3 | name , alternate_id |
| 11552217 | CV251170 | single nucleotide variant | NM_000258.3(MYL3):c.307+37A>C | Hypertrophic cardiomyopathy 8 [RCV001778821]|not provided [RCV001711529]|not specified [RCV000254076] | benign | 3 | 46860639 | 46860639 | Human | 1 | name , alternate_id |
| 11548446 | CV251171 | single nucleotide variant | NM_000258.3(MYL3):c.129+44G>T | Hypertrophic cardiomyopathy 8 [RCV001778820]|not provided [RCV001698754]|not specified [RCV000249105] | benign | 3 | 46863218 | 46863218 | Human | 1 | name , alternate_id |
| 405102844 | CV2975406 | single nucleotide variant | NM_000258.3(MYL3):c.307+16G>C | Hypertrophic cardiomyopathy [RCV003749455] | likely benign | 3 | 46860660 | 46860660 | Human | 2 | name |
| 405251485 | CV3024365 | single nucleotide variant | NM_000258.3(MYL3):c.559+20G>A | Hypertrophic cardiomyopathy [RCV003747981] | likely benign | 3 | 46858364 | 46858364 | Human | 2 | name |
| 405205070 | CV3117030 | single nucleotide variant | NM_000258.3(MYL3):c.481+17C>T | Hypertrophic cardiomyopathy [RCV003822514] | likely benign | 3 | 46859458 | 46859458 | Human | 2 | name |
| 405209734 | CV3162629 | single nucleotide variant | NM_000258.3(MYL3):c.307+16G>T | Hypertrophic cardiomyopathy [RCV003861928] | likely benign | 3 | 46860660 | 46860660 | Human | 2 | name |
| 405725114 | CV3230487 | single nucleotide variant | NM_000258.3(MYL3):c.308-13C>T | Hypertrophic cardiomyopathy [RCV004013240] | likely benign | 3 | 46859661 | 46859661 | Human | 2 | name |
| 405714962 | CV3232302 | single nucleotide variant | NM_000258.3(MYL3):c.158-14C>T | Hypertrophic cardiomyopathy [RCV004012155] | likely benign | 3 | 46860839 | 46860839 | Human | 2 | name |
| 596943124 | CV3546511 | single nucleotide variant | NM_000258.3(MYL3):c.482-13C>T | Hypertrophic cardiomyopathy [RCV004807635] | likely benign | 3 | 46858474 | 46858474 | Human | 2 | name |
| 597952198 | CV3815727 | single nucleotide variant | NM_000258.3(MYL3):c.130-20T>C | Hypertrophic cardiomyopathy [RCV005161480] | likely benign | 3 | 46861007 | 46861007 | Human | 2 | name |
| 597925104 | CV3840506 | single nucleotide variant | NM_000258.3(MYL3):c.158-18A>G | Hypertrophic cardiomyopathy [RCV005184977] | likely benign | 3 | 46860843 | 46860843 | Human | 2 | name |
| 12891498 | CV393590 | single nucleotide variant | NM_000258.3(MYL3):c.158-10C>T | Cardiomyopathy [RCV001181377]|Hypertrophic cardiomyopathy [RCV000476707] | likely benign | 3 | 46860835 | 46860835 | Human | 4 | name |
| 12886622 | CV394040 | single nucleotide variant | NM_000258.3(MYL3):c.130-10C>T | Hypertrophic cardiomyopathy [RCV000467559]|not specified [RCV000614248] | likely benign | 3 | 46860997 | 46860997 | Human | 2 | name |
| 8605946 | CV52289 | single nucleotide variant | NM_000258.3(MYL3):c.130-14G>T | Cardiomyopathy [RCV000771130]|Hypertrophic cardiomyopathy 8 [RCV000608393]|Hypertrophic cardiomyopathy [RCV002054580]|not provided [RCV001594820]|not specified [RCV000036017] | benign|likely benign|conflicting interpretations of pathogenicity | 3 | 46861001 | 46861001 | Human | 5 | name , alternate_id |
| 8605952 | CV52295 | single nucleotide variant | NM_000258.3(MYL3):c.482-14C>A | Cardiomyopathy [RCV001189930]|Hypertrophic cardiomyopathy [RCV002054581]|not provided [RCV000590416]|not specified [RCV000036027] | benign|likely benign|conflicting interpretations of pathogenicity | 3 | 46858475 | 46858475 | Human | 4 | name |
| 15116297 | CV787308 | single nucleotide variant | NM_000258.3(MYL3):c.481+10G>C | Hypertrophic cardiomyopathy [RCV001488115] | likely benign | 3 | 46859465 | 46859465 | Human | 2 | name |
| 34901029 | CV915743 | single nucleotide variant | NM_000258.3(MYL3):c.560-15T>G | Cardiomyopathy [RCV001191035]|Hypertrophic cardiomyopathy [RCV002560101] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 46858287 | 46858287 | Human | 4 | name |
| 150332779 | CV1168996 | single nucleotide variant | NM_000258.3(MYL3):c.482-100C>T | not provided [RCV001537023] | benign | 3 | 46858561 | 46858561 | Human | | name |
| 150438262 | CV1201378 | single nucleotide variant | NM_000258.3(MYL3):c.130-322C>A | not provided [RCV001583190] | likely benign | 3 | 46861309 | 46861309 | Human | | name |
| 14741174 | CV659909 | single nucleotide variant | NM_000258.3(MYL3):c.308-257G>A | not provided [RCV000840658] | benign | 3 | 46859905 | 46859905 | Human | | name |
| 14722313 | CV660186 | single nucleotide variant | NM_000258.3(MYL3):c.129+193C>A | not provided [RCV000832048] | benign | 3 | 46863069 | 46863069 | Human | | name |
| 405278507 | CV3216687 | single nucleotide variant | NM_000258.3(MYL3):c.9C>T (p.Pro3=) | Cardiovascular phenotype [RCV004369859]|MYL3-related disorder [RCV003954577] | likely benign | 3 | 46863382 | 46863382 | Human | 1 | name , trait , alternate_id |
| 8605959 | CV52302 | single nucleotide variant | NM_000258.3(MYL3):c.9C>G (p.Pro3=) | not specified [RCV000036036] | likely benign | 3 | 46863382 | 46863382 | Human | | name |
| 34888367 | CV909677 | single nucleotide variant | NM_000258.3(MYL3):c.6C>A (p.Ala2=) | Cardiomyopathy [RCV001180618]|Hypertrophic cardiomyopathy [RCV002068277] | likely benign | 3 | 46863385 | 46863385 | Human | 4 | name |
| 405757323 | CV3233079 | deletion | NM_000258.3(MYL3):c.2del (p.Met1fs) | Hypertrophic cardiomyopathy [RCV004017031] | uncertain significance | 3 | 46863389 | 46863389 | Human | 2 | name |
| 14692744 | CV616933 | single nucleotide variant | NM_000258.3(MYL3):c.21G>A (p.Glu7=) | Cardiomyopathy [RCV000774365] | likely benign | 3 | 46863370 | 46863370 | Human | 2 | name |
| 34892976 | CV909676 | single nucleotide variant | NM_000258.3(MYL3):c.27G>A (p.Lys9=) | Cardiomyopathy [RCV001183492]|Cardiovascular phenotype [RCV002436749]|Hypertrophic cardiomyopathy [RCV001401444]|not specified [RCV005419024] | likely benign | 3 | 46863364 | 46863364 | Human | 4 | name |
| 127271856 | CV1070842 | single nucleotide variant | NM_000258.3(MYL3):c.78C>T (p.Pro26=) | Cardiomyopathy [RCV001799080]|Cardiovascular phenotype [RCV004038009]|Hypertrophic cardiomyopathy [RCV001405490] | likely benign | 3 | 46863313 | 46863313 | Human | 4 | name |
| 127305669 | CV1134915 | single nucleotide variant | NM_000258.3(MYL3):c.96T>G (p.Pro32=) | Hypertrophic cardiomyopathy [RCV001479814] | likely benign | 3 | 46863295 | 46863295 | Human | 2 | name |
| 150516774 | CV1287529 | deletion | NM_000258.3(MYL3):c.129+54_129+55del | not provided [RCV001723506]|not specified [RCV001728002] | benign|likely benign | 3 | 46863207 | 46863208 | Human | | name |
| 9687930 | CV173800 | single nucleotide variant | NM_000258.3(MYL3):c.4G>C (p.Ala2Pro) | Cardiomyopathy [RCV000777989]|Cardiovascular phenotype [RCV000621707]|Hypertrophic cardiomyopathy 8 [RCV000625226]|Hypertrophic cardiomyopathy [RCV000530942]|not provided [RCV001576618]|not specified [RCV000151371] | likely benign|uncertain significance | 3 | 46863387 | 46863387 | Human | 5 | name , alternate_id |
| 155667074 | CV1855940 | single nucleotide variant | NM_000258.3(MYL3):c.2T>A (p.Met1Lys) | Cardiovascular phenotype [RCV002435640] | uncertain significance | 3 | 46863389 | 46863389 | Human | | name |
| 156438401 | CV1947004 | deletion | NM_000258.3(MYL3):c.559+16_559+31del | Hypertrophic cardiomyopathy [RCV003108343] | likely benign | 3 | 46858353 | 46858368 | Human | 2 | name |
| 156027484 | CV2096699 | single nucleotide variant | NM_000258.3(MYL3):c.51C>A (p.Pro17=) | Hypertrophic cardiomyopathy [RCV002885249] | likely benign | 3 | 46863340 | 46863340 | Human | 2 | name |
| 11661523 | CV291667 | single nucleotide variant | NM_000258.3(MYL3):c.96T>A (p.Pro32=) | Cardiomyopathy [RCV001181052]|Cardiovascular phenotype [RCV004649136]|Hypertrophic cardiomyopathy 8 [RCV000377419]|Hypertrophic cardiomyopathy [RCV001427973] | likely benign|uncertain significance | 3 | 46863295 | 46863295 | Human | 5 | name , alternate_id |
| 405065158 | CV2934715 | microsatellite | NM_000258.3(MYL3):c.560-19_560-16del | Cardiomyopathy [RCV003532745]|Hypertrophic cardiomyopathy [RCV004011514] | likely benign | 3 | 46858288 | 46858291 | Human | | name |
| 405104650 | CV3000299 | single nucleotide variant | NM_000258.3(MYL3):c.60T>A (p.Ala20=) | Hypertrophic cardiomyopathy [RCV003750088] | likely benign | 3 | 46863331 | 46863331 | Human | 2 | name |
| 405221609 | CV3158149 | single nucleotide variant | NM_000258.3(MYL3):c.99G>A (p.Lys33=) | Cardiovascular phenotype [RCV004654370]|Hypertrophic cardiomyopathy [RCV003863644] | likely benign | 3 | 46863292 | 46863292 | Human | 2 | name |
| 596943147 | CV3546524 | single nucleotide variant | NM_000258.3(MYL3):c.87T>C (p.Pro29=) | Hypertrophic cardiomyopathy [RCV004807648] | likely benign | 3 | 46863304 | 46863304 | Human | 2 | name |
| 596943149 | CV3546525 | single nucleotide variant | NM_000258.3(MYL3):c.75T>A (p.Pro25=) | Hypertrophic cardiomyopathy [RCV004807649] | likely benign | 3 | 46863316 | 46863316 | Human | 2 | name |
| 12834858 | CV367264 | single nucleotide variant | NM_000258.3(MYL3):c.36T>C (p.Asp12=) | Cardiomyopathy [RCV000770184]|Cardiovascular phenotype [RCV002348151]|Hypertrophic cardiomyopathy [RCV000552340]|MYL3-related disorder [RCV003897847]|not provided [RCV001718854]|not specified [RCV005404550] | likely benign | 3 | 46863355 | 46863355 | Human | 5 | name , trait , alternate_id |
| 13528719 | CV509631 | single nucleotide variant | NM_000258.3(MYL3):c.8C>A (p.Pro3His) | Cardiomyopathy [RCV001798927]|Cardiovascular phenotype [RCV000620943] | uncertain significance | 3 | 46863383 | 46863383 | Human | 2 | name |
| 8605956 | CV52299 | single nucleotide variant | NM_000258.3(MYL3):c.69C>T (p.Pro23=) | Cardiomyopathy [RCV000776027]|Cardiovascular phenotype [RCV000249842]|Hypertrophic cardiomyopathy 8 [RCV000625225]|Hypertrophic cardiomyopathy [RCV000264068]|not provided [RCV001705657]|not specified [RCV000036033] | benign|likely benign|conflicting interpretations of pathogenicity | 3 | 46863322 | 46863322 | Human | 5 | name , alternate_id |
| 8605957 | CV52300 | single nucleotide variant | NM_000258.3(MYL3):c.81T>C (p.Pro27=) | Cardiomyopathy [RCV000770183]|Cardiovascular phenotype [RCV000241642]|Hypertrophic cardiomyopathy 8 [RCV001148456]|Hypertrophic cardiomyopathy [RCV000233955]|not provided [RCV001200161]|not specified [RCV000036034] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 46863310 | 46863310 | Human | 5 | name , alternate_id |
| 14692734 | CV619218 | microsatellite | NM_000258.3(MYL3):c.560-15_560-14del | Cardiomyopathy [RCV000774350] | likely benign | 3 | 46858286 | 46858287 | Human | | name |
| 34899457 | CV909675 | single nucleotide variant | NM_000258.3(MYL3):c.30G>A (p.Lys10=) | Cardiomyopathy [RCV001188413]|Hypertrophic cardiomyopathy [RCV004807419] | likely benign | 3 | 46863361 | 46863361 | Human | 4 | name |
| 34900081 | CV909678 | single nucleotide variant | NM_000258.3(MYL3):c.4G>T (p.Ala2Ser) | Cardiomyopathy [RCV001189461] | uncertain significance | 3 | 46863387 | 46863387 | Human | 2 | name |
| 405065225 | CV989610 | single nucleotide variant | NM_000258.3(MYL3):c.1A>G (p.Met1Val) | Cardiomyopathy [RCV003532752]|Hypertrophic cardiomyopathy [RCV004011515] | uncertain significance | 3 | 46863390 | 46863390 | Human | 4 | name |
| 126738052 | CV1000402 | single nucleotide variant | NM_000258.3(MYL3):c.186C>T (p.Asp62=) | not provided [RCV001312016] | likely benign | 3 | 46860797 | 46860797 | Human | | name |
| 127247571 | CV1070841 | single nucleotide variant | NM_000258.3(MYL3):c.105C>G (p.Val35=) | Hypertrophic cardiomyopathy [RCV001416924] | likely benign | 3 | 46863286 | 46863286 | Human | 2 | name |
| 127232903 | CV1092512 | single nucleotide variant | NM_000258.3(MYL3):c.147G>A (p.Glu49=) | Hypertrophic cardiomyopathy [RCV001421485] | likely benign | 3 | 46860970 | 46860970 | Human | 2 | name |
| 127263498 | CV1092513 | single nucleotide variant | NM_000258.3(MYL3):c.132T>C (p.Ile44=) | Hypertrophic cardiomyopathy [RCV001439305] | likely benign | 3 | 46860985 | 46860985 | Human | 2 | name |
| 127306870 | CV1114031 | single nucleotide variant | NM_000258.3(MYL3):c.258C>T (p.Asn86=) | Hypertrophic cardiomyopathy [RCV001455664]|not provided [RCV004711644] | likely benign | 3 | 46860725 | 46860725 | Human | 2 | name |
| 127332475 | CV1134914 | single nucleotide variant | NM_000258.3(MYL3):c.178C>T (p.Leu60=) | Hypertrophic cardiomyopathy [RCV001489506] | likely benign | 3 | 46860805 | 46860805 | Human | 2 | name |
| 150471884 | CV1281095 | single nucleotide variant | NM_000258.3(MYL3):c.249G>T (p.Leu83=) | not provided [RCV001713277] | benign | 3 | 46860734 | 46860734 | Human | | name |
| 150516635 | CV1287457 | single nucleotide variant | NM_000258.3(MYL3):c.10A>C (p.Lys4Gln) | Hypertrophic cardiomyopathy [RCV005057550]|not provided [RCV001723437] | uncertain significance | 3 | 46863381 | 46863381 | Human | 2 | name |
| 152071375 | CV1578020 | single nucleotide variant | NM_000258.3(MYL3):c.108G>A (p.Glu36=) | Hypertrophic cardiomyopathy [RCV002111495] | likely benign | 3 | 46863283 | 46863283 | Human | 2 | name |
| 9689298 | CV173939 | single nucleotide variant | NM_000258.3(MYL3):c.246G>A (p.Ala82=) | Cardiomyopathy [RCV001175628]|Cardiovascular phenotype [RCV002453511]|Hypertrophic cardiomyopathy 8 [RCV003629101]|Hypertrophic cardiomyopathy [RCV000542144]|not specified [RCV000154780] | benign|likely benign | 3 | 46860737 | 46860737 | Human | 5 | name , alternate_id |
| 9691991 | CV173940 | single nucleotide variant | NM_000258.3(MYL3):c.11A>G (p.Lys4Arg) | Cardiovascular phenotype [RCV004019818]|Hypertrophic cardiomyopathy [RCV000795804]|not provided [RCV001762332]|not specified [RCV000151370] | uncertain significance | 3 | 46863380 | 46863380 | Human | 2 | name |
| 155749355 | CV1775596 | single nucleotide variant | NM_000258.3(MYL3):c.14A>C (p.Lys5Thr) | Cardiovascular phenotype [RCV004047653]|Hypertrophic cardiomyopathy [RCV002304562] | uncertain significance | 3 | 46863377 | 46863377 | Human | 2 | name |
| 9833347 | CV179068 | single nucleotide variant | NM_000258.3(MYL3):c.17C>G (p.Pro6Arg) | not provided [RCV000158957] | uncertain significance | 3 | 46863374 | 46863374 | Human | | name |
| 155692678 | CV1845762 | single nucleotide variant | NM_000258.3(MYL3):c.25A>G (p.Lys9Glu) | Cardiovascular phenotype [RCV002426219] | uncertain significance | 3 | 46863366 | 46863366 | Human | | name |
| 156400882 | CV1889021 | single nucleotide variant | NM_000258.3(MYL3):c.171C>G (p.Ala57=) | Hypertrophic cardiomyopathy [RCV003069120] | likely benign | 3 | 46860812 | 46860812 | Human | 2 | name |
| 156321339 | CV2057115 | single nucleotide variant | NM_000258.3(MYL3):c.162C>T (p.Phe54=) | Hypertrophic cardiomyopathy [RCV002810093] | likely benign | 3 | 46860821 | 46860821 | Human | 2 | name |
| 156107707 | CV2072373 | single nucleotide variant | NM_000258.3(MYL3):c.270A>G (p.Ala90=) | Hypertrophic cardiomyopathy [RCV002870774] | likely benign | 3 | 46860713 | 46860713 | Human | 2 | name |
| 156300946 | CV2129493 | single nucleotide variant | NM_000258.3(MYL3):c.252C>T (p.Gly84=) | Hypertrophic cardiomyopathy [RCV002962141] | likely benign | 3 | 46860731 | 46860731 | Human | 2 | name |
| 156211957 | CV2175763 | deletion | NM_000258.3(MYL3):c.69del (p.Ala24fs) | Hypertrophic cardiomyopathy [RCV003024839] | uncertain significance | 3 | 46863322 | 46863322 | Human | 2 | name |
| 11547334 | CV258325 | single nucleotide variant | NM_000258.3(MYL3):c.286C>T (p.Leu96=) | Cardiomyopathy [RCV001184761]|Cardiovascular phenotype [RCV000247621]|Hypertrophic cardiomyopathy [RCV000629120] | benign|likely benign | 3 | 46860697 | 46860697 | Human | 4 | name |
| 405171920 | CV2918919 | single nucleotide variant | NM_000258.3(MYL3):c.216C>T (p.Thr72=) | Hypertrophic cardiomyopathy [RCV003587682] | likely benign | 3 | 46860767 | 46860767 | Human | 2 | name |
| 11590306 | CV294871 | single nucleotide variant | NM_000258.3(MYL3):c.219C>T (p.Tyr73=) | Cardiomyopathy [RCV001192124]|Cardiovascular phenotype [RCV002429310]|Hypertrophic cardiomyopathy 8 [RCV000317988]|Hypertrophic cardiomyopathy [RCV001438012]|MYL3-related disorder [RCV003950213]|not provided [RCV000868146]|not specified [RCV003479102] | benign|likely benign|uncertain significance | 3 | 46860764 | 46860764 | Human | 5 | name , trait , alternate_id |
| 405104227 | CV3001019 | single nucleotide variant | NM_000258.3(MYL3):c.22C>A (p.Pro8Thr) | Hypertrophic cardiomyopathy [RCV003749936] | uncertain significance | 3 | 46863369 | 46863369 | Human | 2 | name |
| 405101522 | CV3144352 | single nucleotide variant | NM_000258.3(MYL3):c.171C>T (p.Ala57=) | Hypertrophic cardiomyopathy [RCV003852805] | likely benign | 3 | 46860812 | 46860812 | Human | 2 | name |
| 405757294 | CV3233075 | single nucleotide variant | NM_000258.3(MYL3):c.241C>A (p.Arg81=) | Hypertrophic cardiomyopathy [RCV004017027] | likely benign | 3 | 46860742 | 46860742 | Human | 2 | name |
| 596924590 | CV3532318 | deletion | NM_000258.3(MYL3):c.81del (p.Glu28fs) | not provided [RCV004777429] | uncertain significance | 3 | 46863310 | 46863310 | Human | | name |
| 596943140 | CV3546520 | single nucleotide variant | NM_000258.3(MYL3):c.159G>A (p.Glu53=) | Hypertrophic cardiomyopathy [RCV004807644] | likely benign | 3 | 46860824 | 46860824 | Human | 2 | name |
| 12741126 | CV359533 | single nucleotide variant | NM_000258.3(MYL3):c.26A>G (p.Lys9Arg) | Cardiomyopathy [RCV000771980]|Cardiovascular phenotype [RCV004022177]|Hypertrophic cardiomyopathy [RCV000800832]|not provided [RCV001509218]|not specified [RCV000414165] | uncertain significance | 3 | 46863365 | 46863365 | Human | 4 | name |
| 12837431 | CV367589 | single nucleotide variant | NM_000258.3(MYL3):c.222G>A (p.Gly74=) | Cardiomyopathy [RCV000777846]|Cardiovascular phenotype [RCV002429403]|Hypertrophic cardiomyopathy [RCV000548867]|not specified [RCV000425146] | likely benign | 3 | 46860761 | 46860761 | Human | 4 | name |
| 597891994 | CV3750095 | single nucleotide variant | NM_000258.3(MYL3):c.267G>A (p.Gln89=) | Cardiomyopathy [RCV005403463]|Hypertrophic cardiomyopathy [RCV005071256] | likely benign | 3 | 46860716 | 46860716 | Human | 4 | name |
| 13492363 | CV452446 | single nucleotide variant | NM_000258.3(MYL3):c.195C>G (p.Pro65=) | Hypertrophic cardiomyopathy [RCV000534901] | likely benign | 3 | 46860788 | 46860788 | Human | 2 | name |
| 8605947 | CV52290 | single nucleotide variant | NM_000258.3(MYL3):c.165G>A (p.Lys55=) | Cardiomyopathy [RCV001188096]|Hypertrophic cardiomyopathy [RCV001456031]|not specified [RCV000036018] | likely benign | 3 | 46860818 | 46860818 | Human | 4 | name |
| 14692773 | CV616929 | single nucleotide variant | NM_000258.3(MYL3):c.261C>T (p.Pro87=) | Cardiomyopathy [RCV000774410]|Hypertrophic cardiomyopathy [RCV001085589]|not provided [RCV000840896] | benign|likely benign | 3 | 46860722 | 46860722 | Human | 4 | name |
| 14692218 | CV616930 | single nucleotide variant | NM_000258.3(MYL3):c.247C>T (p.Leu83=) | Cardiomyopathy [RCV000773529]|Hypertrophic cardiomyopathy [RCV002061078]|not provided [RCV001724152]|not specified [RCV001701439] | benign|likely benign | 3 | 46860736 | 46860736 | Human | 4 | name |
| 14692229 | CV616932 | single nucleotide variant | NM_000258.3(MYL3):c.105C>T (p.Val35=) | Cardiomyopathy [RCV000773545]|Cardiovascular phenotype [RCV002397539]|Hypertrophic cardiomyopathy [RCV001393282] | likely benign | 3 | 46863286 | 46863286 | Human | 4 | name |
| 15097663 | CV763914 | single nucleotide variant | NM_000258.3(MYL3):c.198G>A (p.Lys66=) | Cardiovascular phenotype [RCV005372488]|Hypertrophic cardiomyopathy [RCV001435014] | likely benign | 3 | 46860785 | 46860785 | Human | 2 | name |
| 34893693 | CV909666 | single nucleotide variant | NM_000258.3(MYL3):c.183C>T (p.Phe61=) | Cardiomyopathy [RCV001184060]|Hypertrophic cardiomyopathy [RCV001448440]|not provided [RCV001712874] | likely benign | 3 | 46860800 | 46860800 | Human | 4 | name |
| 126741114 | CV1004790 | single nucleotide variant | NM_000258.3(MYL3):c.32A>T (p.Asp11Val) | Cardiovascular phenotype [RCV003166794]|Hypertrophic cardiomyopathy [RCV001314472] | uncertain significance | 3 | 46863359 | 46863359 | Human | 2 | name |
| 127281891 | CV1070840 | single nucleotide variant | NM_000258.3(MYL3):c.412C>A (p.Arg138=) | Hypertrophic cardiomyopathy [RCV001410741] | likely benign | 3 | 46859544 | 46859544 | Human | 2 | name |
| 127317716 | CV1134913 | single nucleotide variant | NM_000258.3(MYL3):c.507G>A (p.Val169=) | Cardiomyopathy [RCV003532996]|Cardiovascular phenotype [RCV004641657]|Hypertrophic cardiomyopathy 8 [RCV002501666]|Hypertrophic cardiomyopathy [RCV001483237] | likely benign | 3 | 46858436 | 46858436 | Human | 5 | name , alternate_id |
| 127325612 | CV1160511 | single nucleotide variant | NM_000258.3(MYL3):c.555T>C (p.Tyr185=) | Cardiomyopathy [RCV001525433]|Hypertrophic cardiomyopathy [RCV004808088] | likely benign | 3 | 46858388 | 46858388 | Human | 4 | name |
| 127326416 | CV1160512 | single nucleotide variant | NM_000258.3(MYL3):c.514T>C (p.Leu172=) | Cardiomyopathy [RCV001525955]|Hypertrophic cardiomyopathy [RCV002568117] | likely benign | 3 | 46858429 | 46858429 | Human | 4 | name |
| 151348811 | CV1322724 | single nucleotide variant | NM_000258.3(MYL3):c.65C>T (p.Ala22Val) | Cardiomyopathy [RCV001804520]|Cardiovascular phenotype [RCV004988757]|Hypertrophic cardiomyopathy [RCV004009093] | uncertain significance | 3 | 46863326 | 46863326 | Human | 4 | name |
| 151351076 | CV1323331 | single nucleotide variant | NM_000258.3(MYL3):c.61C>G (p.Pro21Ala) | Cardiomyopathy [RCV001805659]|Hypertrophic cardiomyopathy [RCV003748362] | likely benign|uncertain significance | 3 | 46863330 | 46863330 | Human | 4 | name |
| 151872602 | CV1339684 | single nucleotide variant | NM_000258.3(MYL3):c.79C>T (p.Pro27Ser) | Hypertrophic cardiomyopathy [RCV002035869]|not provided [RCV005416616] | uncertain significance | 3 | 46863312 | 46863312 | Human | 2 | name |
| 151769508 | CV1410658 | single nucleotide variant | NM_000258.3(MYL3):c.91C>A (p.Arg31Ser) | Hypertrophic cardiomyopathy [RCV001971038] | uncertain significance | 3 | 46863300 | 46863300 | Human | 2 | name |
| 9833348 | CV179067 | single nucleotide variant | NM_000258.3(MYL3):c.73C>T (p.Pro25Ser) | Cardiovascular phenotype [RCV002381519]|Hypertrophic cardiomyopathy [RCV003748199]|not provided [RCV000158958] | uncertain significance | 3 | 46863318 | 46863318 | Human | 2 | name |
| 155743507 | CV1806815 | single nucleotide variant | NM_000258.3(MYL3):c.55G>T (p.Ala19Ser) | Cardiomyopathy [RCV003533184]|Cardiovascular phenotype [RCV002344896]|Hypertrophic cardiomyopathy [RCV003748400] | uncertain significance | 3 | 46863336 | 46863336 | Human | 4 | name |
| 155730781 | CV1808494 | single nucleotide variant | NM_000258.3(MYL3):c.450T>C (p.Gly150=) | Cardiovascular phenotype [RCV002339909]|Hypertrophic cardiomyopathy [RCV003748393] | likely benign | 3 | 46859506 | 46859506 | Human | 2 | name |
| 156410171 | CV1962137 | single nucleotide variant | NM_000258.3(MYL3):c.393G>A (p.Glu131=) | Hypertrophic cardiomyopathy [RCV002587068] | likely benign | 3 | 46859563 | 46859563 | Human | 2 | name |
| 156237594 | CV2183807 | single nucleotide variant | NM_000258.3(MYL3):c.354C>G (p.Leu118=) | Hypertrophic cardiomyopathy [RCV003059541] | likely benign | 3 | 46859602 | 46859602 | Human | 2 | name |
| 11090558 | CV229096 | single nucleotide variant | NM_000258.3(MYL3):c.477G>T (p.Thr159=) | Cardiomyopathy [RCV001182230]|Cardiovascular phenotype [RCV000618975]|Hypertrophic cardiomyopathy [RCV000463239]|not specified [RCV000216208] | benign|likely benign|conflicting interpretations of pathogenicity | 3 | 46859479 | 46859479 | Human | 4 | name |
| 11088161 | CV229098 | single nucleotide variant | NM_000258.3(MYL3):c.420C>T (p.Phe140=) | Cardiomyopathy [RCV000771952]|Cardiovascular phenotype [RCV002327080]|Hypertrophic cardiomyopathy [RCV000862793]|MYL3-related disorder [RCV003947707]|not provided [RCV001712094]|not specified [RCV000213235] | likely benign | 3 | 46859536 | 46859536 | Human | 5 | name , trait , alternate_id |
| 11094826 | CV229100 | single nucleotide variant | NM_000258.3(MYL3):c.92G>A (p.Arg31His) | Amyloidosis, hereditary systemic 1 [RCV000852967]|Cardiomyopathy [RCV000771967]|Cardiovascular phenotype [RCV004020625]|Hypertrophic cardiomyopathy 8 [RCV005025351]|Hypertrophic cardiomyopathy [RCV000629148]|not specified [RCV000221537] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 46863299 | 46863299 | Human | 9 | name , alternate_id |
| 11091892 | CV229101 | single nucleotide variant | NM_000258.3(MYL3):c.82G>A (p.Glu28Lys) | Hypertrophic cardiomyopathy [RCV000472426]|not specified [RCV000217870] | uncertain significance | 3 | 46863309 | 46863309 | Human | 2 | name |
| 11544320 | CV258317 | single nucleotide variant | NM_000258.3(MYL3):c.477G>A (p.Thr159=) | Cardiomyopathy [RCV001183743]|Cardiovascular phenotype [RCV000243628]|Hypertrophic cardiomyopathy [RCV002518691]|MYL3-related disorder [RCV003939918]|not provided [RCV000869712] | likely benign | 3 | 46859479 | 46859479 | Human | 5 | name , trait , alternate_id |
| 401859825 | CV2753830 | single nucleotide variant | NM_000258.3(MYL3):c.432C>T (p.Gly144=) | Cardiovascular phenotype [RCV003342023] | uncertain significance | 3 | 46859524 | 46859524 | Human | | name |
| 405168638 | CV2894519 | single nucleotide variant | NM_000258.3(MYL3):c.64G>T (p.Ala22Ser) | Hypertrophic cardiomyopathy [RCV003587385] | uncertain significance | 3 | 46863327 | 46863327 | Human | 2 | name |
| 405065214 | CV2934721 | single nucleotide variant | NM_000258.3(MYL3):c.31G>A (p.Asp11Asn) | Cardiomyopathy [RCV003532751] | uncertain significance | 3 | 46863360 | 46863360 | Human | 2 | name |
| 405102131 | CV2950533 | single nucleotide variant | NM_000258.3(MYL3):c.306A>G (p.Glu102=) | Hypertrophic cardiomyopathy [RCV003749196] | uncertain significance | 3 | 46860677 | 46860677 | Human | 2 | name |
| 405104305 | CV2991445 | single nucleotide variant | NM_000258.3(MYL3):c.31G>T (p.Asp11Tyr) | Hypertrophic cardiomyopathy [RCV003749964] | uncertain significance | 3 | 46863360 | 46863360 | Human | 2 | name |
| 405102786 | CV3119528 | single nucleotide variant | NM_000258.3(MYL3):c.441T>C (p.Thr147=) | Hypertrophic cardiomyopathy [RCV003811790] | likely benign | 3 | 46859515 | 46859515 | Human | 2 | name |
| 405180484 | CV3119858 | single nucleotide variant | NM_000258.3(MYL3):c.480G>A (p.Leu160=) | Hypertrophic cardiomyopathy [RCV003819951] | uncertain significance | 3 | 46859476 | 46859476 | Human | 2 | name |
| 405195148 | CV3167669 | single nucleotide variant | NM_000258.3(MYL3):c.94C>T (p.Pro32Ser) | Cardiomyopathy [RCV005402102]|Cardiovascular phenotype [RCV004369515]|Hypertrophic cardiomyopathy [RCV003860075] | uncertain significance | 3 | 46863297 | 46863297 | Human | 4 | name |
| 405723727 | CV3230346 | single nucleotide variant | NM_000258.3(MYL3):c.309G>A (p.Glu103=) | Cardiovascular phenotype [RCV005377627]|Hypertrophic cardiomyopathy [RCV004013099] | likely benign | 3 | 46859647 | 46859647 | Human | 2 | name |
| 405721198 | CV3231418 | single nucleotide variant | NM_000258.3(MYL3):c.490C>T (p.Leu164=) | Hypertrophic cardiomyopathy [RCV004012825] | likely benign | 3 | 46858453 | 46858453 | Human | 2 | name |
| 405748095 | CV3232908 | single nucleotide variant | NM_000258.3(MYL3):c.50C>G (p.Pro17Arg) | Hypertrophic cardiomyopathy [RCV004015867] | uncertain significance | 3 | 46863341 | 46863341 | Human | 2 | name |
| 405757288 | CV3233074 | single nucleotide variant | NM_000258.3(MYL3):c.312C>T (p.Leu104=) | Hypertrophic cardiomyopathy [RCV004017026] | likely benign | 3 | 46859644 | 46859644 | Human | 2 | name |
| 405702487 | CV3233414 | single nucleotide variant | NM_000258.3(MYL3):c.58G>T (p.Ala20Ser) | Hypertrophic cardiomyopathy [RCV004009870] | uncertain significance | 3 | 46863333 | 46863333 | Human | 2 | name |
| 405704008 | CV3233589 | single nucleotide variant | NM_000258.3(MYL3):c.37G>A (p.Ala13Thr) | Hypertrophic cardiomyopathy [RCV004010046] | uncertain significance | 3 | 46863354 | 46863354 | Human | 2 | name |
| 405751148 | CV3234020 | single nucleotide variant | NM_000258.3(MYL3):c.74C>A (p.Pro25His) | Hypertrophic cardiomyopathy [RCV004016249] | uncertain significance | 3 | 46863317 | 46863317 | Human | 2 | name |
| 405744312 | CV3234584 | single nucleotide variant | NM_000258.3(MYL3):c.366C>T (p.Ser122=) | Hypertrophic cardiomyopathy [RCV004015458] | likely benign | 3 | 46859590 | 46859590 | Human | 2 | name |
| 405714790 | CV3391545 | single nucleotide variant | NM_000258.3(MYL3):c.35A>G (p.Asp12Gly) | Cardiovascular phenotype [RCV004523037] | uncertain significance | 3 | 46863356 | 46863356 | Human | | name |
| 407504440 | CV3454541 | single nucleotide variant | NM_000258.3(MYL3):c.498A>G (p.Glu166=) | Cardiomyopathy [RCV005402153]|Cardiovascular phenotype [RCV004645815] | likely benign | 3 | 46858445 | 46858445 | Human | 2 | name |
| 596943126 | CV3546512 | single nucleotide variant | NM_000258.3(MYL3):c.408G>T (p.Gly136=) | Hypertrophic cardiomyopathy [RCV004807636] | likely benign | 3 | 46859548 | 46859548 | Human | 2 | name |
| 597697631 | CV3564868 | single nucleotide variant | NM_000258.3(MYL3):c.441T>A (p.Thr147=) | Cardiovascular phenotype [RCV004987405] | likely benign | 3 | 46859515 | 46859515 | Human | | name |
| 597697635 | CV3564869 | single nucleotide variant | NM_000258.3(MYL3):c.459T>C (p.Leu153=) | Cardiovascular phenotype [RCV004987406] | likely benign | 3 | 46859497 | 46859497 | Human | | name |
| 597697639 | CV3564871 | deletion | NM_000258.3(MYL3):c.293del (p.Lys98fs) | Cardiovascular phenotype [RCV004987407] | uncertain significance | 3 | 46860690 | 46860690 | Human | | name |
| 597697642 | CV3564872 | single nucleotide variant | NM_000258.3(MYL3):c.342C>T (p.Phe114=) | Cardiovascular phenotype [RCV004987408] | uncertain significance | 3 | 46859614 | 46859614 | Human | | name |
| 12846879 | CV367615 | single nucleotide variant | NM_000258.3(MYL3):c.465C>T (p.His155=) | Cardiomyopathy [RCV001187379]|Cardiovascular phenotype [RCV000620763]|Hypertrophic cardiomyopathy [RCV002060046]|not specified [RCV000442491] | likely benign | 3 | 46859491 | 46859491 | Human | 4 | name |
| 12846353 | CV368610 | single nucleotide variant | NM_000258.3(MYL3):c.501C>T (p.Asp167=) | Cardiomyopathy [RCV000772013]|Cardiovascular phenotype [RCV003338590]|Hypertrophic cardiomyopathy [RCV002522464]|not specified [RCV000441477] | likely benign | 3 | 46858442 | 46858442 | Human | 4 | name |
| 597933794 | CV3742744 | single nucleotide variant | NM_000258.3(MYL3):c.402G>A (p.Val134=) | Hypertrophic cardiomyopathy [RCV005076183] | likely benign | 3 | 46859554 | 46859554 | Human | 2 | name |
| 597950329 | CV3768631 | single nucleotide variant | NM_000258.3(MYL3):c.587A>G (p.Ter196=) | Hypertrophic cardiomyopathy [RCV005120817] | likely benign | 3 | 46858245 | 46858245 | Human | 2 | name |
| 597963789 | CV3792034 | single nucleotide variant | NM_000258.3(MYL3):c.38C>T (p.Ala13Val) | Hypertrophic cardiomyopathy [RCV005139590] | uncertain significance | 3 | 46863353 | 46863353 | Human | 2 | name |
| 598190118 | CV3994056 | single nucleotide variant | NM_000258.3(MYL3):c.432C>A (p.Gly144=) | Cardiovascular phenotype [RCV005373992] | likely benign | 3 | 46859524 | 46859524 | Human | | name |
| 616934594 | CV4009695 | single nucleotide variant | NM_000258.3(MYL3):c.31G>C (p.Asp11His) | Cardiomyopathy [RCV005400853] | uncertain significance | 3 | 46863360 | 46863360 | Human | 2 | name |
| 616934684 | CV4009831 | duplication | NM_000258.3(MYL3):c.207dup (p.Lys70fs) | Cardiomyopathy [RCV005400989] | uncertain significance | 3 | 46860775 | 46860776 | Human | 2 | name |
| 13541577 | CV500285 | single nucleotide variant | NM_000258.3(MYL3):c.549C>T (p.Ile183=) | Cardiomyopathy [RCV001179575]|Cardiovascular phenotype [RCV002350469]|Hypertrophic cardiomyopathy [RCV000907806]|not specified [RCV000616351] | likely benign | 3 | 46858394 | 46858394 | Human | 4 | name |
| 13537294 | CV500290 | single nucleotide variant | NM_000258.3(MYL3):c.381A>C (p.Thr127=) | Cardiomyopathy [RCV005401521]|Cardiovascular phenotype [RCV004639286]|Hypertrophic cardiomyopathy [RCV002066683]|not specified [RCV000610211] | benign|likely benign | 3 | 46859575 | 46859575 | Human | 4 | name |
| 13534831 | CV509630 | single nucleotide variant | NM_000258.3(MYL3):c.411G>T (p.Leu137=) | Cardiomyopathy [RCV000769167]|Cardiovascular phenotype [RCV000619082]|Hypertrophic cardiomyopathy [RCV000629040]|not provided [RCV001312015]|not specified [RCV005404746] | benign|likely benign | 3 | 46859545 | 46859545 | Human | 4 | name |
| 13609442 | CV519317 | single nucleotide variant | NM_000258.3(MYL3):c.360C>T (p.His120=) | Cardiomyopathy [RCV001184042]|Cardiovascular phenotype [RCV003278956]|Hypertrophic cardiomyopathy [RCV001413974] | likely benign | 3 | 46859596 | 46859596 | Human | 4 | name |
| 8605953 | CV52296 | single nucleotide variant | NM_000258.3(MYL3):c.516G>A (p.Leu172=) | Cardiomyopathy [RCV001188094]|Cardiovascular phenotype [RCV002336120]|Hypertrophic cardiomyopathy [RCV001454553]|not specified [RCV000036028] | likely benign | 3 | 46858427 | 46858427 | Human | 4 | name |
| 8605958 | CV52301 | single nucleotide variant | NM_000258.3(MYL3):c.91C>T (p.Arg31Cys) | Cardiovascular phenotype [RCV003162311]|Hypertrophic cardiomyopathy 1 [RCV001256743]|Hypertrophic cardiomyopathy [RCV001852736]|not provided [RCV000766485]|not specified [RCV000036035] | uncertain significance | 3 | 46863300 | 46863300 | Human | 3 | name |
| 14694162 | CV616928 | single nucleotide variant | NM_000258.3(MYL3):c.429G>A (p.Glu143=) | Cardiomyopathy [RCV000776430]|Hypertrophic cardiomyopathy [RCV002535559] | likely benign | 3 | 46859527 | 46859527 | Human | 4 | name |
| 14696446 | CV623060 | single nucleotide variant | NM_000258.3(MYL3):c.64G>A (p.Ala22Thr) | not provided [RCV000786176] | likely pathogenic | 3 | 46863327 | 46863327 | Human | | name |
| 15099758 | CV686430 | single nucleotide variant | NM_000258.3(MYL3):c.411G>A (p.Leu137=) | Cardiomyopathy [RCV003532299]|Cardiovascular phenotype [RCV004027765]|Hypertrophic cardiomyopathy [RCV000869951] | benign|likely benign | 3 | 46859545 | 46859545 | Human | 4 | name |
| 15106702 | CV691425 | single nucleotide variant | NM_000258.3(MYL3):c.399C>T (p.Phe133=) | Cardiomyopathy [RCV001185933]|Cardiovascular phenotype [RCV002372462]|Hypertrophic cardiomyopathy [RCV001474567] | likely benign | 3 | 46859557 | 46859557 | Human | 4 | name |
| 15188874 | CV763913 | single nucleotide variant | NM_000258.3(MYL3):c.504A>G (p.Glu168=) | Hypertrophic cardiomyopathy [RCV001430105] | likely benign | 3 | 46858439 | 46858439 | Human | 2 | name |
| 15117757 | CV781685 | single nucleotide variant | NM_000258.3(MYL3):c.405G>A (p.Glu135=) | Hypertrophic cardiomyopathy [RCV001460515]|not specified [RCV005405469] | likely benign | 3 | 46859551 | 46859551 | Human | 2 | name |
| 8630853 | CV86008 | single nucleotide variant | NM_000258.2(MYL3):c.489G>A (p.Arg163=) | Malignant melanoma [RCV000066092] | not provided | 3 | 46858454 | 46858454 | Human | | name |
| 28882895 | CV889127 | single nucleotide variant | NM_000258.3(MYL3):c.70G>A (p.Ala24Thr) | Cardiovascular phenotype [RCV003339516]|Hypertrophic cardiomyopathy 8 [RCV001150031]|Hypertrophic cardiomyopathy [RCV003586270] | uncertain significance | 3 | 46863321 | 46863321 | Human | 3 | name , alternate_id |
| 34893881 | CV909650 | single nucleotide variant | NM_000258.3(MYL3):c.582C>T (p.Ser194=) | Cardiomyopathy [RCV001184199] | likely benign | 3 | 46858250 | 46858250 | Human | 2 | name |
| 34894711 | CV909652 | single nucleotide variant | NM_000258.3(MYL3):c.567G>A (p.Val189=) | Cardiomyopathy [RCV001177537] | likely benign | 3 | 46858265 | 46858265 | Human | 2 | name |
| 34896341 | CV909653 | single nucleotide variant | NM_000258.3(MYL3):c.552C>T (p.Asn184=) | Cardiomyopathy [RCV001185696]|Cardiovascular phenotype [RCV002348622]|Hypertrophic cardiomyopathy [RCV001446959] | likely benign | 3 | 46858391 | 46858391 | Human | 4 | name |
| 34897236 | CV909654 | single nucleotide variant | NM_000258.3(MYL3):c.546C>T (p.Cys182=) | Cardiomyopathy [RCV001178997] | likely benign | 3 | 46858397 | 46858397 | Human | 2 | name |
| 34896918 | CV909659 | single nucleotide variant | NM_000258.3(MYL3):c.483T>G (p.Gly161=) | Cardiomyopathy [RCV001186017]|Hypertrophic cardiomyopathy [RCV001445379] | likely benign | 3 | 46858460 | 46858460 | Human | 4 | name |
| 34890949 | CV909661 | single nucleotide variant | NM_000258.3(MYL3):c.435T>C (p.Asn145=) | Cardiomyopathy [RCV001182315]|Cardiovascular phenotype [RCV002327439]|Hypertrophic cardiomyopathy [RCV003748325]|not provided [RCV004711563] | likely benign | 3 | 46859521 | 46859521 | Human | 4 | name |
| 34892951 | CV909662 | single nucleotide variant | NM_000258.3(MYL3):c.426G>A (p.Lys142=) | Cardiomyopathy [RCV001176168]|Hypertrophic cardiomyopathy [RCV001483806] | likely benign | 3 | 46859530 | 46859530 | Human | 4 | name |
| 34888794 | CV909668 | single nucleotide variant | NM_000258.3(MYL3):c.80C>G (p.Pro27Arg) | Cardiomyopathy [RCV001181009]|Hypertrophic cardiomyopathy 8 [RCV005414571] | uncertain significance | 3 | 46863311 | 46863311 | Human | 3 | name , alternate_id |
| 34894718 | CV909669 | single nucleotide variant | NM_000258.3(MYL3):c.79C>G (p.Pro27Ala) | Cardiomyopathy [RCV001177541]|Hypertrophic cardiomyopathy 8 [RCV002480596] | uncertain significance | 3 | 46863312 | 46863312 | Human | 3 | name , alternate_id |
| 34891298 | CV909670 | single nucleotide variant | NM_000258.3(MYL3):c.77C>G (p.Pro26Arg) | Cardiomyopathy [RCV001182449] | uncertain significance | 3 | 46863314 | 46863314 | Human | 2 | name |
| 34892297 | CV909671 | single nucleotide variant | NM_000258.3(MYL3):c.61C>T (p.Pro21Ser) | Cardiomyopathy [RCV001182989]|Cardiovascular phenotype [RCV003293942]|Hypertrophic cardiomyopathy 8 [RCV002505778]|Hypertrophic cardiomyopathy [RCV001876082]|not provided [RCV004789433] | uncertain significance | 3 | 46863330 | 46863330 | Human | 5 | name , alternate_id |
| 34892960 | CV909672 | single nucleotide variant | NM_000258.3(MYL3):c.52A>G (p.Lys18Glu) | Cardiomyopathy [RCV001176176] | uncertain significance | 3 | 46863339 | 46863339 | Human | 2 | name |
| 34899637 | CV909673 | single nucleotide variant | NM_000258.3(MYL3):c.40A>C (p.Lys14Gln) | Cardiomyopathy [RCV001188733] | uncertain significance | 3 | 46863351 | 46863351 | Human | 2 | name |
| 34898889 | CV909674 | single nucleotide variant | NM_000258.3(MYL3):c.36T>G (p.Asp12Glu) | Cardiomyopathy [RCV001180348]|Cardiovascular phenotype [RCV004986884]|Hypertrophic cardiomyopathy [RCV003586278]|not provided [RCV001773427] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 46863355 | 46863355 | Human | 4 | name |
| 38491581 | CV923222 | single nucleotide variant | NM_000258.3(MYL3):c.71C>T (p.Ala24Val) | Cardiovascular phenotype [RCV003163729]|Hypertrophic cardiomyopathy 8 [RCV002491701]|Hypertrophic cardiomyopathy [RCV001222973] | uncertain significance | 3 | 46863320 | 46863320 | Human | 3 | name , alternate_id |
| 38486980 | CV923223 | single nucleotide variant | NM_000258.3(MYL3):c.47C>T (p.Ala16Val) | Hypertrophic cardiomyopathy [RCV001220550] | uncertain significance | 3 | 46863344 | 46863344 | Human | 2 | name |
| 38473889 | CV931965 | single nucleotide variant | NM_000258.3(MYL3):c.49C>T (p.Pro17Ser) | Cardiomyopathy [RCV003532890]|Cardiovascular phenotype [RCV002339510]|Hypertrophic cardiomyopathy [RCV001203601]|not provided [RCV004590220] | uncertain significance | 3 | 46863342 | 46863342 | Human | 4 | name |
| 126770171 | CV1025317 | single nucleotide variant | NM_000258.3(MYL3):c.256A>T (p.Asn86Tyr) | Cardiovascular phenotype [RCV004988568]|Hypertrophic cardiomyopathy [RCV001344324]|not provided [RCV001762580] | uncertain significance | 3 | 46860727 | 46860727 | Human | 2 | name |
| 126741334 | CV1025318 | single nucleotide variant | NM_000258.3(MYL3):c.227G>A (p.Cys76Tyr) | Hypertrophic cardiomyopathy [RCV001350864] | uncertain significance | 3 | 46860756 | 46860756 | Human | 2 | name |
| 127324410 | CV1160515 | single nucleotide variant | NM_000258.3(MYL3):c.140C>T (p.Thr47Ile) | Cardiomyopathy [RCV001524668]|Cardiovascular phenotype [RCV002388573]|Hypertrophic cardiomyopathy [RCV002568069] | uncertain significance | 3 | 46860977 | 46860977 | Human | 4 | name |
| 127324414 | CV1160516 | single nucleotide variant | NM_000258.3(MYL3):c.127A>G (p.Lys43Glu) | Cardiomyopathy [RCV001524672] | uncertain significance | 3 | 46863264 | 46863264 | Human | 2 | name |
| 150540801 | CV1298528 | single nucleotide variant | NM_000258.3(MYL3):c.142C>G (p.Pro48Ala) | not provided [RCV001760676] | uncertain significance | 3 | 46860975 | 46860975 | Human | | name |
| 150552386 | CV1301352 | single nucleotide variant | NM_000258.3(MYL3):c.102G>T (p.Glu34Asp) | not provided [RCV001767762] | uncertain significance | 3 | 46863289 | 46863289 | Human | | name |
| 150547882 | CV1303833 | single nucleotide variant | NM_000258.3(MYL3):c.154G>A (p.Glu52Lys) | not provided [RCV001763936] | uncertain significance | 3 | 46860963 | 46860963 | Human | | name |
| 151857120 | CV1347967 | single nucleotide variant | NM_000258.3(MYL3):c.110T>C (p.Phe37Ser) | Hypertrophic cardiomyopathy [RCV001979662] | uncertain significance | 3 | 46863281 | 46863281 | Human | 2 | name |
| 151781161 | CV1357806 | single nucleotide variant | NM_000258.3(MYL3):c.124A>T (p.Ile42Phe) | Cardiomyopathy [RCV003533043]|Hypertrophic cardiomyopathy [RCV001875367] | uncertain significance | 3 | 46863267 | 46863267 | Human | 4 | name |
| 151855351 | CV1372842 | single nucleotide variant | NM_000258.3(MYL3):c.251G>C (p.Gly84Ala) | Hypertrophic cardiomyopathy [RCV001996469] | uncertain significance | 3 | 46860732 | 46860732 | Human | 2 | name |
| 151727182 | CV1408151 | single nucleotide variant | NM_000258.3(MYL3):c.175A>T (p.Met59Leu) | Hypertrophic cardiomyopathy [RCV001891871] | uncertain significance | 3 | 46860808 | 46860808 | Human | 2 | name |
| 151843597 | CV1414624 | single nucleotide variant | NM_000258.3(MYL3):c.296C>G (p.Pro99Arg) | Hypertrophic cardiomyopathy [RCV001903148] | uncertain significance | 3 | 46860687 | 46860687 | Human | 2 | name |
| 151828119 | CV1435642 | single nucleotide variant | NM_000258.3(MYL3):c.294G>T (p.Lys98Asn) | Hypertrophic cardiomyopathy [RCV001955409] | uncertain significance | 3 | 46860689 | 46860689 | Human | 2 | name |
| 151869999 | CV1454066 | single nucleotide variant | NM_000258.3(MYL3):c.103G>A (p.Val35Ile) | Hypertrophic cardiomyopathy [RCV001906344] | uncertain significance | 3 | 46863288 | 46863288 | Human | 2 | name |
| 151752132 | CV1473702 | single nucleotide variant | NM_000258.3(MYL3):c.193C>G (p.Pro65Ala) | Hypertrophic cardiomyopathy [RCV001872356] | uncertain significance | 3 | 46860790 | 46860790 | Human | 2 | name |
| 9687261 | CV171084 | single nucleotide variant | NM_000258.3(MYL3):c.235G>A (p.Val79Ile) | Cardiomyopathy [RCV000777873]|Cardiovascular phenotype [RCV002453474]|Hypertrophic cardiomyopathy 8 [RCV002505134]|Hypertrophic cardiomyopathy [RCV000527113]|Primary familial hypertrophic cardiomyopathy [RCV000148716]|not specified [RCV003155086] | likely pathogenic|uncertain significance | 3 | 46860748 | 46860748 | Human | 7 | name , alternate_id |
| 9689154 | CV173799 | single nucleotide variant | NM_000258.3(MYL3):c.187C>T (p.Arg63Cys) | Cardiomyopathy [RCV000777995]|Cardiovascular phenotype [RCV000617865]|Hypertrophic cardiomyopathy [RCV001358941]|not provided [RCV001699044]|not specified [RCV000154591] | uncertain significance | 3 | 46860796 | 46860796 | Human | 4 | name |
| 9833344 | CV179059 | single nucleotide variant | NM_000258.3(MYL3):c.292A>G (p.Lys98Glu) | Hypertrophic cardiomyopathy [RCV001857571]|not provided [RCV000158945] | uncertain significance | 3 | 46860691 | 46860691 | Human | 2 | name |
| 9833350 | CV179060 | single nucleotide variant | NM_000258.3(MYL3):c.280C>T (p.Arg94Cys) | Cardiomyopathy [RCV001176080]|Cardiovascular phenotype [RCV002433708]|Hypertrophic cardiomyopathy [RCV000233649]|not provided [RCV003128586] | pathogenic|uncertain significance | 3 | 46860703 | 46860703 | Human | 4 | name |
| 9833343 | CV179061 | single nucleotide variant | NM_000258.3(MYL3):c.220G>A (p.Gly74Arg) | Cardiomyopathy [RCV001186246]|Cardiovascular phenotype [RCV002426781]|Hypertrophic cardiomyopathy 8 [RCV000624944]|Hypertrophic cardiomyopathy [RCV001850229]|not provided [RCV000766486]|not specified [RCV000158942] | likely benign|uncertain significance | 3 | 46860763 | 46860763 | Human | 5 | name , alternate_id |
| 9833342 | CV179062 | single nucleotide variant | NM_000258.3(MYL3):c.194C>G (p.Pro65Arg) | Cardiovascular phenotype [RCV002415694]|not provided [RCV000158941] | likely pathogenic|uncertain significance | 3 | 46860789 | 46860789 | Human | | name |
| 9833349 | CV179063 | single nucleotide variant | NM_000258.3(MYL3):c.193C>T (p.Pro65Ser) | Cardiomyopathy [RCV003532002]|Cardiovascular phenotype [RCV004639155]|Hypertrophic cardiomyopathy [RCV004806106]|not provided [RCV000158960] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 3 | 46860790 | 46860790 | Human | 4 | name |
| 9833341 | CV179064 | single nucleotide variant | NM_000258.3(MYL3):c.188G>C (p.Arg63Pro) | Cardiovascular phenotype [RCV002408714]|Hypertrophic cardiomyopathy [RCV000991351]|not provided [RCV000158940] | uncertain significance | 3 | 46860795 | 46860795 | Human | 2 | name |
| 9833340 | CV179065 | single nucleotide variant | NM_000258.3(MYL3):c.184G>A (p.Asp62Asn) | Cardiomyopathy [RCV001185804]|Cardiovascular phenotype [RCV004649080]|Hypertrophic cardiomyopathy [RCV003998377]|not provided [RCV000158939]|not specified [RCV000214205] | likely pathogenic|uncertain significance | 3 | 46860799 | 46860799 | Human | 4 | name |
| 9833339 | CV179066 | single nucleotide variant | NM_000258.3(MYL3):c.136T>C (p.Phe46Leu) | Cardiomyopathy [RCV001176079]|Cardiovascular phenotype [RCV002381518]|Hypertrophic cardiomyopathy [RCV001056549]|not provided [RCV000158936]|not specified [RCV001804879] | uncertain significance | 3 | 46860981 | 46860981 | Human | 4 | name |
| 155669875 | CV1842452 | single nucleotide variant | NM_000258.3(MYL3):c.263C>T (p.Thr88Ile) | Cardiovascular phenotype [RCV002452969] | uncertain significance | 3 | 46860720 | 46860720 | Human | | name |
| 155748284 | CV1846969 | single nucleotide variant | NM_000258.3(MYL3):c.211A>T (p.Ile71Phe) | Cardiovascular phenotype [RCV002417594]|not provided [RCV002511167] | uncertain significance | 3 | 46860772 | 46860772 | Human | | name |
| 155677599 | CV1848290 | single nucleotide variant | NM_000258.3(MYL3):c.244G>T (p.Ala82Ser) | Cardiovascular phenotype [RCV002455430] | uncertain significance | 3 | 46860739 | 46860739 | Human | | name |
| 155686193 | CV1853391 | single nucleotide variant | NM_000258.3(MYL3):c.278T>C (p.Leu93Pro) | Cardiovascular phenotype [RCV002441406] | uncertain significance | 3 | 46860705 | 46860705 | Human | | name |
| 155680766 | CV1854420 | single nucleotide variant | NM_000258.3(MYL3):c.100G>A (p.Glu34Lys) | Cardiovascular phenotype [RCV002439752]|Hypertrophic cardiomyopathy [RCV003748448] | uncertain significance | 3 | 46863291 | 46863291 | Human | 2 | name |
| 156008875 | CV2046430 | deletion | NM_000258.3(MYL3):c.579del (p.Met193fs) | Hypertrophic cardiomyopathy [RCV002756571] | uncertain significance | 3 | 46858253 | 46858253 | Human | 2 | name |
| 156095682 | CV2106460 | single nucleotide variant | NM_000258.3(MYL3):c.281G>C (p.Arg94Pro) | Cardiomyopathy [RCV005403253]|Hypertrophic cardiomyopathy [RCV002952537] | uncertain significance | 3 | 46860702 | 46860702 | Human | 4 | name |
| 156116809 | CV2150592 | single nucleotide variant | NM_000258.3(MYL3):c.200G>A (p.Cys67Tyr) | Cardiovascular phenotype [RCV004642109]|Hypertrophic cardiomyopathy [RCV003021637] | uncertain significance | 3 | 46860783 | 46860783 | Human | 2 | name |
| 156370464 | CV2188601 | single nucleotide variant | NM_000258.3(MYL3):c.175A>G (p.Met59Val) | Hypertrophic cardiomyopathy [RCV003066245]|not provided [RCV004593143] | uncertain significance | 3 | 46860808 | 46860808 | Human | 2 | name |
| 404978808 | CV2852253 | single nucleotide variant | NM_000258.3(MYL3):c.214A>G (p.Thr72Ala) | Cardiomyopathy [RCV003487250] | uncertain significance | 3 | 46860769 | 46860769 | Human | 2 | name |
| 405164192 | CV2876799 | single nucleotide variant | NM_000258.3(MYL3):c.210G>C (p.Lys70Asn) | Hypertrophic cardiomyopathy [RCV003586990] | uncertain significance | 3 | 46860773 | 46860773 | Human | 2 | name |
| 405253050 | CV3044048 | single nucleotide variant | NM_000258.3(MYL3):c.287T>C (p.Leu96Pro) | Hypertrophic cardiomyopathy [RCV003748688] | uncertain significance | 3 | 46860696 | 46860696 | Human | 2 | name |
| 405252014 | CV3053689 | single nucleotide variant | NM_000258.3(MYL3):c.233A>T (p.Asp78Val) | Cardiovascular phenotype [RCV004373972]|Hypertrophic cardiomyopathy [RCV003748173] | uncertain significance | 3 | 46860750 | 46860750 | Human | 2 | name |
| 404978624 | CV3127449 | single nucleotide variant | NM_000258.3(MYL3):c.275T>C (p.Val92Ala) | Hypertrophic cardiomyopathy [RCV003825673] | uncertain significance | 3 | 46860708 | 46860708 | Human | 2 | name |
| 405235944 | CV3166389 | single nucleotide variant | NM_000258.3(MYL3):c.122A>G (p.Lys41Arg) | Hypertrophic cardiomyopathy [RCV003853838] | uncertain significance | 3 | 46863269 | 46863269 | Human | 2 | name |
| 405241950 | CV3173219 | single nucleotide variant | NM_000258.3(MYL3):c.289G>A (p.Gly97Arg) | Hypertrophic cardiomyopathy [RCV003867504] | uncertain significance | 3 | 46860694 | 46860694 | Human | 2 | name |
| 405250014 | CV3180542 | single nucleotide variant | NM_000258.3(MYL3):c.277C>T (p.Leu93Phe) | Hypertrophic cardiomyopathy [RCV003869819] | uncertain significance | 3 | 46860706 | 46860706 | Human | 2 | name |
| 405730404 | CV3229024 | single nucleotide variant | NM_000258.3(MYL3):c.230G>T (p.Gly77Val) | Hypertrophic cardiomyopathy [RCV004013774] | uncertain significance | 3 | 46860753 | 46860753 | Human | 2 | name |
| 405693884 | CV3229932 | single nucleotide variant | NM_000258.3(MYL3):c.143C>T (p.Pro48Leu) | Hypertrophic cardiomyopathy [RCV004007849] | uncertain significance | 3 | 46860974 | 46860974 | Human | 2 | name |
| 405726511 | CV3230624 | single nucleotide variant | NM_000258.3(MYL3):c.101A>T (p.Glu34Val) | Hypertrophic cardiomyopathy [RCV004013378] | uncertain significance | 3 | 46863290 | 46863290 | Human | 2 | name |
| 405729389 | CV3231084 | duplication | NM_000258.3(MYL3):c.351dup (p.Leu118fs) | Hypertrophic cardiomyopathy [RCV004013665] | uncertain significance | 3 | 46859604 | 46859605 | Human | 2 | name |
| 405729787 | CV3231126 | deletion | NM_000258.3(MYL3):c.504del (p.Val169fs) | Hypertrophic cardiomyopathy [RCV004013707] | uncertain significance | 3 | 46858439 | 46858439 | Human | 2 | name |
| 405722212 | CV3231911 | single nucleotide variant | NM_000258.3(MYL3):c.258C>G (p.Asn86Lys) | Hypertrophic cardiomyopathy [RCV004012933] | uncertain significance | 3 | 46860725 | 46860725 | Human | 2 | name |
| 405715763 | CV3232352 | single nucleotide variant | NM_000258.3(MYL3):c.125T>C (p.Ile42Thr) | Cardiomyopathy [RCV005402121]|Hypertrophic cardiomyopathy [RCV004012205] | uncertain significance | 3 | 46863266 | 46863266 | Human | 4 | name |
| 405753655 | CV3232453 | single nucleotide variant | NM_000258.3(MYL3):c.259C>T (p.Pro87Ser) | Hypertrophic cardiomyopathy [RCV004016588] | uncertain significance | 3 | 46860724 | 46860724 | Human | 2 | name |
| 405755700 | CV3232690 | single nucleotide variant | NM_000258.3(MYL3):c.193C>A (p.Pro65Thr) | Hypertrophic cardiomyopathy [RCV004016826] | uncertain significance | 3 | 46860790 | 46860790 | Human | 2 | name |
| 405757302 | CV3233076 | single nucleotide variant | NM_000258.3(MYL3):c.232G>T (p.Asp78Tyr) | Hypertrophic cardiomyopathy [RCV004017028] | uncertain significance | 3 | 46860751 | 46860751 | Human | 2 | name |
| 405757308 | CV3233077 | single nucleotide variant | NM_000258.3(MYL3):c.232G>A (p.Asp78Asn) | Hypertrophic cardiomyopathy [RCV004017029] | uncertain significance | 3 | 46860751 | 46860751 | Human | 2 | name |
| 405757316 | CV3233078 | single nucleotide variant | NM_000258.3(MYL3):c.177G>A (p.Met59Ile) | Hypertrophic cardiomyopathy [RCV004017030] | uncertain significance | 3 | 46860806 | 46860806 | Human | 2 | name |
| 405749260 | CV3233783 | single nucleotide variant | NM_000258.3(MYL3):c.215C>A (p.Thr72Asn) | Hypertrophic cardiomyopathy [RCV004016011] | uncertain significance | 3 | 46860768 | 46860768 | Human | 2 | name |
| 405751268 | CV3234035 | single nucleotide variant | NM_000258.3(MYL3):c.206T>C (p.Met69Thr) | Cardiomyopathy [RCV005403387]|Hypertrophic cardiomyopathy [RCV004016264] | uncertain significance | 3 | 46860777 | 46860777 | Human | 4 | name |
| 405744202 | CV3234570 | deletion | NM_000258.3(MYL3):c.318del (p.Lys107fs) | Hypertrophic cardiomyopathy [RCV004015443] | uncertain significance | 3 | 46859638 | 46859638 | Human | 2 | name |
| 405714784 | CV3391544 | single nucleotide variant | NM_000258.3(MYL3):c.242G>A (p.Arg81Gln) | Cardiovascular phenotype [RCV004523036]|Hypertrophic cardiomyopathy [RCV004805648] | uncertain significance | 3 | 46860741 | 46860741 | Human | 2 | name |
| 407501203 | CV3495578 | single nucleotide variant | NM_000258.3(MYL3):c.182T>C (p.Phe61Ser) | not provided [RCV004697418] | uncertain significance | 3 | 46860801 | 46860801 | Human | | name |
| 596943131 | CV3546515 | single nucleotide variant | NM_000258.3(MYL3):c.251G>A (p.Gly84Asp) | Hypertrophic cardiomyopathy [RCV004807639] | uncertain significance | 3 | 46860732 | 46860732 | Human | 2 | name |
| 596943133 | CV3546516 | single nucleotide variant | NM_000258.3(MYL3):c.244G>A (p.Ala82Thr) | Hypertrophic cardiomyopathy [RCV004807640] | uncertain significance | 3 | 46860739 | 46860739 | Human | 2 | name |
| 596943135 | CV3546517 | single nucleotide variant | NM_000258.3(MYL3):c.223C>T (p.Gln75Ter) | Hypertrophic cardiomyopathy [RCV004807641] | uncertain significance | 3 | 46860760 | 46860760 | Human | 2 | name |
| 596943138 | CV3546519 | single nucleotide variant | NM_000258.3(MYL3):c.173T>C (p.Phe58Ser) | Hypertrophic cardiomyopathy [RCV004807643] | uncertain significance | 3 | 46860810 | 46860810 | Human | 2 | name |
| 596943143 | CV3546522 | single nucleotide variant | NM_000258.3(MYL3):c.111T>G (p.Phe37Leu) | Hypertrophic cardiomyopathy [RCV004807646] | uncertain significance | 3 | 46863280 | 46863280 | Human | 2 | name |
| 597697646 | CV3564873 | single nucleotide variant | NM_000258.3(MYL3):c.115G>A (p.Ala39Thr) | Cardiovascular phenotype [RCV004987409] | uncertain significance | 3 | 46863276 | 46863276 | Human | | name |
| 597974226 | CV3821165 | single nucleotide variant | NM_000258.3(MYL3):c.225G>T (p.Gln75His) | Hypertrophic cardiomyopathy [RCV005168486] | uncertain significance | 3 | 46860758 | 46860758 | Human | 2 | name |
| 597960780 | CV3840320 | single nucleotide variant | NM_000258.3(MYL3):c.143C>G (p.Pro48Arg) | Hypertrophic cardiomyopathy [RCV005192804] | uncertain significance | 3 | 46860974 | 46860974 | Human | 2 | name |
| 597861759 | CV3850830 | single nucleotide variant | NM_000258.3(MYL3):c.121A>G (p.Lys41Glu) | Hypertrophic cardiomyopathy [RCV005195963] | uncertain significance | 3 | 46863270 | 46863270 | Human | 2 | name |
| 12882490 | CV393836 | single nucleotide variant | NM_000258.3(MYL3):c.280C>A (p.Arg94Ser) | Hypertrophic cardiomyopathy [RCV000459761] | uncertain significance | 3 | 46860703 | 46860703 | Human | 2 | name |
| 8602582 | CV40436 | single nucleotide variant | NM_000258.3(MYL3):c.167A>G (p.Glu56Gly) | not provided [RCV000024467] | not provided | 3 | 46860816 | 46860816 | Human | | name |
| 8602583 | CV40437 | single nucleotide variant | NM_000258.3(MYL3):c.281G>A (p.Arg94His) | Cardiomyopathy [RCV000769168]|Cardiovascular phenotype [RCV003162261]|Hypertrophic cardiomyopathy 8 [RCV000491596]|Hypertrophic cardiomyopathy [RCV000824445]|Primary familial hypertrophic cardiomyopathy [RCV001290568]|not provided [RCV000024468] | pathogenic|likely pathogenic|not provided | 3 | 46860702 | 46860702 | Human | 7 | name , alternate_id |
| 8602586 | CV40440 | single nucleotide variant | NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) | Cardiomyopathy [RCV001184759]|Cardiovascular phenotype [RCV000243485]|Hypertrophic cardiomyopathy 8 [RCV000709747]|Hypertrophic cardiomyopathy [RCV000229595]|not provided [RCV000024471]|not specified [RCV000722117] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided | 3 | 46860813 | 46860813 | Human | 5 | name , alternate_id |
| 12895158 | CV406312 | deletion | NM_000258.3(MYL3):c.457del (p.Leu153fs) | Cardiomyopathy [RCV001180610]|Cardiovascular phenotype [RCV004023114]|Hypertrophic cardiomyopathy [RCV001851148]|not provided [RCV000485422] | pathogenic|uncertain significance | 3 | 46859499 | 46859499 | Human | 4 | name |
| 12907173 | CV414943 | single nucleotide variant | NM_000258.3(MYL3):c.152T>C (p.Ile51Thr) | Cardiomyopathy [RCV001189160]|Cardiovascular phenotype [RCV004649176]|Hypertrophic cardiomyopathy 8 [RCV005054199]|Hypertrophic cardiomyopathy [RCV000853435]|not provided [RCV000490125]|not specified [RCV003387858] | uncertain significance | 3 | 46860965 | 46860965 | Human | 5 | name , alternate_id |
| 13609154 | CV519501 | single nucleotide variant | NM_000258.3(MYL3):c.283G>T (p.Val95Phe) | Hypertrophic cardiomyopathy [RCV000628912] | uncertain significance | 3 | 46860700 | 46860700 | Human | 2 | name |
| 8605948 | CV52291 | single nucleotide variant | NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) | Cardiomyopathy [RCV000238674]|Cardiovascular phenotype [RCV000618276]|Hypertrophic cardiomyopathy 8 [RCV000755682]|Hypertrophic cardiomyopathy [RCV000538349]|Long QT syndrome [RCV003318341]|MYL3-related disorder [RCV004752733]|Primary familial hypertrophic cardi omyopathy [RCV000157371]|not provided [RCV000158937] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 3 | 46860813 | 46860813 | Human | 9 | name , trait , alternate_id |
| 13810440 | CV561602 | single nucleotide variant | NM_000258.3(MYL3):c.245C>T (p.Ala82Val) | Cardiomyopathy [RCV001190451]|Cardiovascular phenotype [RCV002424598]|Hypertrophic cardiomyopathy [RCV000688253]|not specified [RCV000781634] | uncertain significance | 3 | 46860738 | 46860738 | Human | 4 | name |
| 13817201 | CV562972 | duplication | NM_000258.3(MYL3):c.410dup (p.Arg138fs) | Hypertrophic cardiomyopathy [RCV000706859] | uncertain significance | 3 | 46859545 | 46859546 | Human | 2 | name |
| 14688940 | CV614898 | single nucleotide variant | NM_000258.3(MYL3):c.274G>A (p.Val92Met) | Cardiomyopathy [RCV000770181]|Hypertrophic cardiomyopathy [RCV001343480] | uncertain significance | 3 | 46860709 | 46860709 | Human | 4 | name |
| 14692827 | CV614899 | single nucleotide variant | NM_000258.3(MYL3):c.188G>A (p.Arg63His) | Cardiomyopathy [RCV000770182]|Hypertrophic cardiomyopathy [RCV001036976]|not specified [RCV005407946] | uncertain significance | 3 | 46860795 | 46860795 | Human | 4 | name |
| 14692314 | CV616931 | single nucleotide variant | NM_000258.3(MYL3):c.229G>A (p.Gly77Arg) | Cardiomyopathy [RCV000773697] | uncertain significance | 3 | 46860754 | 46860754 | Human | 2 | name |
| 14699109 | CV624268 | single nucleotide variant | NM_000258.3(MYL3):c.191C>T (p.Thr64Ile) | Hypertrophic cardiomyopathy [RCV001208425]|not provided [RCV000788333] | uncertain significance | 3 | 46860792 | 46860792 | Human | 2 | name |
| 14740777 | CV631459 | single nucleotide variant | NM_000258.3(MYL3):c.206T>A (p.Met69Lys) | Cardiomyopathy [RCV001805876]|Cardiovascular phenotype [RCV002422759]|Hypertrophic cardiomyopathy [RCV000805509] | uncertain significance | 3 | 46860777 | 46860777 | Human | 4 | name |
| 14709358 | CV631460 | single nucleotide variant | NM_000258.3(MYL3):c.170C>T (p.Ala57Val) | Cardiovascular phenotype [RCV002397569]|Hypertrophic cardiomyopathy 8 [RCV002507363]|Hypertrophic cardiomyopathy [RCV000792858] | uncertain significance | 3 | 46860813 | 46860813 | Human | 3 | name , alternate_id |
| 14728346 | CV631461 | single nucleotide variant | NM_000258.3(MYL3):c.147G>T (p.Glu49Asp) | Cardiomyopathy [RCV001805891]|Hypertrophic cardiomyopathy [RCV000816475] | uncertain significance | 3 | 46860970 | 46860970 | Human | 4 | name |
| 28900988 | CV859274 | single nucleotide variant | NM_000258.3(MYL3):c.106G>A (p.Glu36Lys) | Cardiomyopathy [RCV001191856]|Cardiovascular phenotype [RCV002411627]|Hypertrophic cardiomyopathy [RCV004000221] | uncertain significance | 3 | 46863285 | 46863285 | Human | 4 | name |
| 34894436 | CV909667 | single nucleotide variant | NM_000258.3(MYL3):c.178C>G (p.Leu60Val) | Cardiomyopathy [RCV001184606]|Hypertrophic cardiomyopathy [RCV003586284] | uncertain significance | 3 | 46860805 | 46860805 | Human | 4 | name |
| 38493424 | CV923220 | single nucleotide variant | NM_000258.3(MYL3):c.265C>T (p.Gln89Ter) | Cardiovascular phenotype [RCV002451526]|Hypertrophic cardiomyopathy [RCV001224231] | uncertain significance | 3 | 46860718 | 46860718 | Human | 2 | name |
| 38494441 | CV923221 | single nucleotide variant | NM_000258.3(MYL3):c.241C>T (p.Arg81Trp) | Cardiomyopathy [RCV003532905]|Cardiovascular phenotype [RCV003380907]|Hypertrophic cardiomyopathy 8 [RCV002497766]|Hypertrophic cardiomyopathy [RCV001224972] | uncertain significance | 3 | 46860742 | 46860742 | Human | 5 | name , alternate_id |
| 38493225 | CV953497 | single nucleotide variant | NM_000258.3(MYL3):c.218A>G (p.Tyr73Cys) | Hypertrophic cardiomyopathy [RCV001240560] | uncertain significance | 3 | 46860765 | 46860765 | Human | 2 | name |
| 38493489 | CV953498 | single nucleotide variant | NM_000258.3(MYL3):c.133G>C (p.Glu45Gln) | Cardiomyopathy [RCV005403003]|Hypertrophic cardiomyopathy [RCV001240712] | uncertain significance | 3 | 46860984 | 46860984 | Human | 4 | name |
| 126763484 | CV989606 | duplication | NM_000258.3(MYL3):c.575dup (p.Met193fs) | Cardiovascular phenotype [RCV002350541]|Hypertrophic cardiomyopathy [RCV001300721] | uncertain significance | 3 | 46858256 | 46858257 | Human | 2 | name |
| 126765776 | CV989609 | single nucleotide variant | NM_000258.3(MYL3):c.295C>G (p.Pro99Ala) | Hypertrophic cardiomyopathy [RCV001301620] | uncertain significance | 3 | 46860688 | 46860688 | Human | 2 | name |
| 126770283 | CV1004788 | single nucleotide variant | NM_000258.3(MYL3):c.494C>G (p.Thr165Arg) | Hypertrophic cardiomyopathy [RCV001322478] | uncertain significance | 3 | 46858449 | 46858449 | Human | 2 | name |
| 126759182 | CV1025316 | single nucleotide variant | NM_000258.3(MYL3):c.536C>A (p.Ser179Tyr) | Hypertrophic cardiomyopathy [RCV001340055] | uncertain significance | 3 | 46858407 | 46858407 | Human | 2 | name |
| 126915057 | CV1042261 | single nucleotide variant | NM_000258.3(MYL3):c.433A>G (p.Asn145Asp) | Cardiovascular phenotype [RCV003339615]|Hypertrophic cardiomyopathy [RCV001359764]|not provided [RCV001509217] | uncertain significance | 3 | 46859523 | 46859523 | Human | 2 | name |
| 127326114 | CV1160510 | single nucleotide variant | NM_000258.3(MYL3):c.557A>C (p.Glu186Ala) | Cardiomyopathy [RCV001525764]|Hypertrophic cardiomyopathy 8 [RCV002495845]|Hypertrophic cardiomyopathy [RCV003771608]|not provided [RCV003222333] | uncertain significance | 3 | 46858386 | 46858386 | Human | 5 | name , alternate_id |
| 127323733 | CV1160513 | single nucleotide variant | NM_000258.3(MYL3):c.421G>T (p.Asp141Tyr) | Cardiomyopathy [RCV001524222] | uncertain significance | 3 | 46859535 | 46859535 | Human | 2 | name |
| 150417310 | CV1179725 | single nucleotide variant | NM_000258.3(MYL3):c.456G>T (p.Glu152Asp) | Cardiovascular phenotype [RCV002334595]|Hypertrophic cardiomyopathy [RCV005057502]|not provided [RCV001550064] | uncertain significance | 3 | 46859500 | 46859500 | Human | 2 | name |
| 150488403 | CV1274200 | single nucleotide variant | NM_000258.3(MYL3):c.421G>A (p.Asp141Asn) | Cardiomyopathy [RCV005403109]|Cardiovascular phenotype [RCV002329709]|Hypertrophic cardiomyopathy [RCV004008962]|not provided [RCV001699847] | uncertain significance | 3 | 46859535 | 46859535 | Human | 4 | name |
| 150534493 | CV1300609 | single nucleotide variant | NM_000258.3(MYL3):c.568A>G (p.Lys190Glu) | Cardiomyopathy [RCV005403111]|Hypertrophic cardiomyopathy [RCV002544094]|not provided [RCV001758737] | uncertain significance | 3 | 46858264 | 46858264 | Human | 4 | name |
| 151797585 | CV1352628 | single nucleotide variant | NM_000258.3(MYL3):c.350T>C (p.Met117Thr) | Hypertrophic cardiomyopathy [RCV001877085]|MYL3-related disorder [RCV004753409] | uncertain significance | 3 | 46859606 | 46859606 | Human | 3 | name , trait , alternate_id |
| 151834446 | CV1369953 | single nucleotide variant | NM_000258.3(MYL3):c.307G>A (p.Glu103Lys) | Cardiomyopathy [RCV003533055]|Hypertrophic cardiomyopathy [RCV001920819] | uncertain significance | 3 | 46860676 | 46860676 | Human | 4 | name |
| 151738428 | CV1390025 | single nucleotide variant | NM_000258.3(MYL3):c.392A>G (p.Glu131Gly) | Hypertrophic cardiomyopathy [RCV001893025] | uncertain significance | 3 | 46859564 | 46859564 | Human | 2 | name |
| 151744987 | CV1401671 | single nucleotide variant | NM_000258.3(MYL3):c.487A>G (p.Arg163Gly) | Cardiovascular phenotype [RCV002334767]|Hypertrophic cardiomyopathy [RCV001947493] | uncertain significance | 3 | 46858456 | 46858456 | Human | 2 | name |
| 151808046 | CV1417818 | single nucleotide variant | NM_000258.3(MYL3):c.536C>T (p.Ser179Phe) | Hypertrophic cardiomyopathy [RCV001867737]|not provided [RCV005095364] | uncertain significance | 3 | 46858407 | 46858407 | Human | 2 | name |
| 151834927 | CV1446919 | single nucleotide variant | NM_000258.3(MYL3):c.383G>C (p.Gly128Ala) | Hypertrophic cardiomyopathy [RCV002031183] | uncertain significance | 3 | 46859573 | 46859573 | Human | 2 | name |
| 151778899 | CV1473575 | single nucleotide variant | NM_000258.3(MYL3):c.553T>A (p.Tyr185Asn) | Hypertrophic cardiomyopathy [RCV001864781] | uncertain significance | 3 | 46858390 | 46858390 | Human | 2 | name |
| 151869206 | CV1497625 | single nucleotide variant | NM_000258.3(MYL3):c.326T>C (p.Met109Thr) | Hypertrophic cardiomyopathy [RCV001960208] | uncertain significance | 3 | 46859630 | 46859630 | Human | 2 | name |
| 9689059 | CV173798 | single nucleotide variant | NM_000258.3(MYL3):c.466G>T (p.Val156Leu) | Cardiomyopathy [RCV000769164]|Hypertrophic cardiomyopathy 8 [RCV000201472]|Hypertrophic cardiomyopathy [RCV001309098]|Primary familial hypertrophic cardiomyopathy [RCV000845401]|not provided [RCV000766488]|not specified [RCV000154477] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 3 | 46859490 | 46859490 | Human | 6 | name , alternate_id |
| 155742461 | CV1777272 | single nucleotide variant | NM_000258.3(MYL3):c.365C>T (p.Ser122Phe) | Hypertrophic cardiomyopathy [RCV002302915] | uncertain significance | 3 | 46859591 | 46859591 | Human | 2 | name |
| 9832445 | CV178529 | single nucleotide variant | NM_000258.3(MYL3):c.447G>A (p.Met149Ile) | Cardiovascular phenotype [RCV002326895]|Primary familial hypertrophic cardiomyopathy [RCV000157372]|not provided [RCV004819996] | likely pathogenic|uncertain significance | 3 | 46859509 | 46859509 | Human | 2 | name |
| 9833351 | CV179056 | single nucleotide variant | NM_000258.3(MYL3):c.518T>A (p.Met173Lys) | Hypertrophic cardiomyopathy [RCV000800210]|not provided [RCV000158962] | pathogenic|uncertain significance | 3 | 46858425 | 46858425 | Human | 2 | name |
| 9833346 | CV179057 | single nucleotide variant | NM_000258.3(MYL3):c.447G>T (p.Met149Ile) | Hypertrophic cardiomyopathy [RCV003447508]|not provided [RCV000158949] | pathogenic|likely pathogenic | 3 | 46859509 | 46859509 | Human | 2 | name |
| 9833345 | CV179058 | single nucleotide variant | NM_000258.3(MYL3):c.380C>G (p.Thr127Arg) | not provided [RCV000158946] | uncertain significance | 3 | 46859576 | 46859576 | Human | | name |
| 155725662 | CV1790964 | single nucleotide variant | NM_000258.3(MYL3):c.419T>C (p.Phe140Ser) | Cardiovascular phenotype [RCV002327842] | uncertain significance | 3 | 46859537 | 46859537 | Human | | name |
| 155718580 | CV1808961 | single nucleotide variant | NM_000258.3(MYL3):c.475A>T (p.Thr159Ser) | Cardiovascular phenotype [RCV002337658] | uncertain significance | 3 | 46859481 | 46859481 | Human | | name |
| 156399326 | CV1877466 | single nucleotide variant | NM_000258.3(MYL3):c.337A>G (p.Thr113Ala) | Hypertrophic cardiomyopathy [RCV003068974] | uncertain significance | 3 | 46859619 | 46859619 | Human | 2 | name |
| 156408993 | CV1880026 | single nucleotide variant | NM_000258.3(MYL3):c.486G>C (p.Glu162Asp) | Hypertrophic cardiomyopathy [RCV003071489] | uncertain significance | 3 | 46858457 | 46858457 | Human | 2 | name |
| 156175701 | CV2010350 | single nucleotide variant | NM_000258.3(MYL3):c.317C>T (p.Thr106Ile) | Hypertrophic cardiomyopathy [RCV002710621] | uncertain significance | 3 | 46859639 | 46859639 | Human | 2 | name |
| 156018667 | CV2020618 | single nucleotide variant | NM_000258.3(MYL3):c.434A>C (p.Asn145Thr) | Cardiovascular phenotype [RCV004642014]|Hypertrophic cardiomyopathy [RCV002735269] | uncertain significance | 3 | 46859522 | 46859522 | Human | 2 | name |
| 156202245 | CV2092549 | single nucleotide variant | NM_000258.3(MYL3):c.464A>T (p.His155Leu) | Hypertrophic cardiomyopathy [RCV002917829] | uncertain significance | 3 | 46859492 | 46859492 | Human | 2 | name |
| 156053674 | CV2137229 | single nucleotide variant | NM_000258.3(MYL3):c.505G>C (p.Val169Leu) | Hypertrophic cardiomyopathy [RCV002999957] | uncertain significance | 3 | 46858438 | 46858438 | Human | 2 | name |
| 156202288 | CV2166167 | single nucleotide variant | NM_000258.3(MYL3):c.575T>A (p.Ile192Asn) | Hypertrophic cardiomyopathy [RCV003042014] | uncertain significance | 3 | 46858257 | 46858257 | Human | 2 | name |
| 156264495 | CV2170081 | single nucleotide variant | NM_000258.3(MYL3):c.503A>C (p.Glu168Ala) | Hypertrophic cardiomyopathy [RCV003026769] | uncertain significance | 3 | 46858440 | 46858440 | Human | 2 | name |
| 156214942 | CV2171179 | single nucleotide variant | NM_000258.3(MYL3):c.505G>A (p.Val169Met) | Hypertrophic cardiomyopathy [RCV003042482] | uncertain significance | 3 | 46858438 | 46858438 | Human | 2 | name |
| 156370042 | CV2190693 | single nucleotide variant | NM_000258.3(MYL3):c.481G>A (p.Gly161Ser) | Hypertrophic cardiomyopathy [RCV003066215] | uncertain significance | 3 | 46859475 | 46859475 | Human | 2 | name |
| 10768660 | CV221419 | single nucleotide variant | NM_000258.3(MYL3):c.508G>A (p.Glu170Lys) | Hypertrophic cardiomyopathy [RCV000206767] | uncertain significance | 3 | 46858435 | 46858435 | Human | 2 | name |
| 11040001 | CV224280 | single nucleotide variant | NM_000258.3(MYL3):c.571C>G (p.His191Asp) | Primary familial hypertrophic cardiomyopathy [RCV000208171] | uncertain significance | 3 | 46858261 | 46858261 | Human | 1 | name |
| 11040162 | CV224282 | single nucleotide variant | NM_000258.3(MYL3):c.451G>A (p.Ala151Thr) | Hypertrophic cardiomyopathy [RCV000817802]|Primary familial hypertrophic cardiomyopathy [RCV000208495]|not provided [RCV000426551] | pathogenic|likely pathogenic|uncertain significance | 3 | 46859505 | 46859505 | Human | 3 | name |
| 11040059 | CV224283 | single nucleotide variant | NM_000258.3(MYL3):c.383G>A (p.Gly128Asp) | Hypertrophic cardiomyopathy [RCV001362336]|Primary familial hypertrophic cardiomyopathy [RCV000208278] | likely pathogenic|uncertain significance | 3 | 46859573 | 46859573 | Human | 3 | name |
| 11094508 | CV229097 | single nucleotide variant | NM_000258.3(MYL3):c.452C>T (p.Ala151Val) | Hypertrophic cardiomyopathy [RCV000768520]|not specified [RCV000221147] | pathogenic|uncertain significance | 3 | 46859504 | 46859504 | Human | 2 | name |
| 11348642 | CV239237 | single nucleotide variant | NM_000258.3(MYL3):c.301C>G (p.Gln101Glu) | Hypertrophic cardiomyopathy [RCV000227429] | uncertain significance | 3 | 46860682 | 46860682 | Human | 2 | name |
| 329355088 | CV2433864 | single nucleotide variant | NM_000258.3(MYL3):c.418T>C (p.Phe140Leu) | Cardiovascular phenotype [RCV003177656]|Hypertrophic cardiomyopathy [RCV003586390] | uncertain significance | 3 | 46859538 | 46859538 | Human | 2 | name |
| 11550633 | CV258323 | single nucleotide variant | NM_000258.3(MYL3):c.400G>A (p.Val134Met) | Cardiovascular phenotype [RCV000252010]|Hypertrophic cardiomyopathy [RCV001300273]|not provided [RCV000845567] | uncertain significance | 3 | 46859556 | 46859556 | Human | 2 | name |
| 401931266 | CV2800733 | single nucleotide variant | NM_000258.3(MYL3):c.349A>C (p.Met117Leu) | Cardiovascular phenotype [RCV004654203]|MYL3-related disorder [RCV003391287] | uncertain significance | 3 | 46859607 | 46859607 | Human | 1 | name , trait , alternate_id |
| 405165264 | CV2877063 | single nucleotide variant | NM_000258.3(MYL3):c.540T>G (p.Asn180Lys) | Hypertrophic cardiomyopathy [RCV003586996] | uncertain significance | 3 | 46858403 | 46858403 | Human | 2 | name |
| 405168628 | CV2894518 | single nucleotide variant | NM_000258.3(MYL3):c.374A>G (p.Lys125Arg) | Hypertrophic cardiomyopathy [RCV003587384] | uncertain significance | 3 | 46859582 | 46859582 | Human | 2 | name |
| 8599671 | CV29100 | single nucleotide variant | NM_000258.3(MYL3):c.445A>G (p.Met149Val) | Cardiovascular phenotype [RCV004018632]|Hypertrophic cardiomyopathy 8 [RCV000015105]|Hypertrophic cardiomyopathy [RCV000168418]|not provided [RCV000158948] | pathogenic|likely pathogenic | 3 | 46859511 | 46859511 | Human | 3 | name , alternate_id |
| 8599672 | CV29101 | single nucleotide variant | NM_000258.3(MYL3):c.461G>A (p.Arg154His) | Cardiomyopathy [RCV001170903]|Cardiomyopathy, familial restrictive, 1 [RCV000491772]|Cardiovascular phenotype [RCV000253839]|Hypertrophic cardiomyopathy 8 [RCV000015106]|Hypertrophic cardiomyopathy [RCV000552674]|not provided [RCV000766487] | pathogenic|likely pathogenic|uncertain significance | 3 | 46859495 | 46859495 | Human | 6 | name , alternate_id |
| 8599673 | CV29102 | single nucleotide variant | NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) | Cardiomyopathy [RCV001186218]|Cardiovascular phenotype [RCV000249729]|Hypertrophic cardiomyopathy 8 [RCV000015107]|Hypertrophic cardiomyopathy [RCV000199993]|MYL3-related disorder [RCV003407333]|Primary familial hypertrophic cardiomyopathy [RCV001201266]|not pro vided [RCV000497294]|not specified [RCV000036022] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 3 | 46859529 | 46859529 | Human | 7 | name , trait , alternate_id |
| 405174753 | CV2926141 | single nucleotide variant | NM_000258.3(MYL3):c.383G>T (p.Gly128Val) | Hypertrophic cardiomyopathy [RCV003587958] | uncertain significance | 3 | 46859573 | 46859573 | Human | 2 | name |
| 405065170 | CV2934716 | single nucleotide variant | NM_000258.3(MYL3):c.551A>G (p.Asn184Ser) | Cardiomyopathy [RCV003532746]|not provided [RCV004775447] | uncertain significance | 3 | 46858392 | 46858392 | Human | 2 | name |
| 405065179 | CV2934717 | single nucleotide variant | NM_000258.3(MYL3):c.430G>A (p.Gly144Ser) | Cardiomyopathy [RCV003532747] | uncertain significance | 3 | 46859526 | 46859526 | Human | 2 | name |
| 405065192 | CV2934718 | single nucleotide variant | NM_000258.3(MYL3):c.344T>C (p.Leu115Pro) | Cardiomyopathy [RCV003532748] | uncertain significance | 3 | 46859612 | 46859612 | Human | 2 | name |
| 405065207 | CV2934719 | single nucleotide variant | NM_000258.3(MYL3):c.310C>A (p.Leu104Ile) | Cardiomyopathy [RCV003532749] | uncertain significance | 3 | 46859646 | 46859646 | Human | 2 | name |
| 405251127 | CV3028990 | single nucleotide variant | NM_000258.3(MYL3):c.389A>G (p.Tyr130Cys) | Hypertrophic cardiomyopathy [RCV003747841] | uncertain significance | 3 | 46859567 | 46859567 | Human | 2 | name |
| 405254998 | CV3175569 | single nucleotide variant | NM_000258.3(MYL3):c.572A>C (p.His191Pro) | Hypertrophic cardiomyopathy [RCV003871836] | uncertain significance | 3 | 46858260 | 46858260 | Human | 2 | name |
| 405740392 | CV3229224 | single nucleotide variant | NM_000258.3(MYL3):c.502G>C (p.Glu168Gln) | Hypertrophic cardiomyopathy [RCV004014967] | uncertain significance | 3 | 46858441 | 46858441 | Human | 2 | name |
| 405695828 | CV3230204 | single nucleotide variant | NM_000258.3(MYL3):c.431G>A (p.Gly144Asp) | Hypertrophic cardiomyopathy [RCV004008123] | uncertain significance | 3 | 46859525 | 46859525 | Human | 2 | name |
| 405732117 | CV3231563 | single nucleotide variant | NM_000258.3(MYL3):c.572A>G (p.His191Arg) | Hypertrophic cardiomyopathy [RCV004013963] | uncertain significance | 3 | 46858260 | 46858260 | Human | 2 | name |
| 405757272 | CV3233072 | single nucleotide variant | NM_000258.3(MYL3):c.556G>A (p.Glu186Lys) | Hypertrophic cardiomyopathy [RCV004017024] | uncertain significance | 3 | 46858387 | 46858387 | Human | 2 | name |
| 405757280 | CV3233073 | single nucleotide variant | NM_000258.3(MYL3):c.541G>A (p.Gly181Ser) | Hypertrophic cardiomyopathy [RCV004017025] | uncertain significance | 3 | 46858402 | 46858402 | Human | 2 | name |
| 405753750 | CV3234436 | single nucleotide variant | NM_000258.3(MYL3):c.394G>A (p.Asp132Asn) | Hypertrophic cardiomyopathy [RCV004016486] | uncertain significance | 3 | 46859562 | 46859562 | Human | 2 | name |
| 405714793 | CV3391546 | single nucleotide variant | NM_000258.3(MYL3):c.512A>C (p.Lys171Thr) | Cardiovascular phenotype [RCV004523038] | uncertain significance | 3 | 46858431 | 46858431 | Human | | name |
| 408394848 | CV3522096 | single nucleotide variant | NM_000258.3(MYL3):c.488G>C (p.Arg163Thr) | Hypertrophic cardiomyopathy [RCV004765095] | uncertain significance | 3 | 46858455 | 46858455 | Human | 2 | name |
| 596943127 | CV3546513 | single nucleotide variant | NM_000258.3(MYL3):c.330C>A (p.Asp110Glu) | Hypertrophic cardiomyopathy [RCV004807637] | uncertain significance | 3 | 46859626 | 46859626 | Human | 2 | name |
| 12741234 | CV359471 | single nucleotide variant | NM_000258.3(MYL3):c.435T>A (p.Asn145Lys) | Hypertrophic cardiomyopathy [RCV003586180]|not specified [RCV000414486] | uncertain significance | 3 | 46859521 | 46859521 | Human | 2 | name |
| 12741256 | CV359532 | single nucleotide variant | NM_000258.3(MYL3):c.482G>A (p.Gly161Asp) | not specified [RCV000414548] | uncertain significance | 3 | 46858461 | 46858461 | Human | | name |
| 12848068 | CV367627 | single nucleotide variant | NM_000258.3(MYL3):c.413G>A (p.Arg138Gln) | Cardiomyopathy [RCV001524794]|Cardiovascular phenotype [RCV002329003]|Hypertrophic cardiomyopathy [RCV001309150]|not provided [RCV000444621] | uncertain significance | 3 | 46859543 | 46859543 | Human | 4 | name |
| 597961371 | CV3753232 | single nucleotide variant | NM_000258.3(MYL3):c.304G>A (p.Glu102Lys) | Hypertrophic cardiomyopathy [RCV005081732]|not specified [RCV005241089] | uncertain significance | 3 | 46860679 | 46860679 | Human | 2 | name |
| 597960218 | CV3756156 | single nucleotide variant | NM_000258.3(MYL3):c.410T>C (p.Leu137Pro) | Hypertrophic cardiomyopathy [RCV005081472] | uncertain significance | 3 | 46859546 | 46859546 | Human | 2 | name |
| 597941578 | CV3757424 | single nucleotide variant | NM_000258.3(MYL3):c.574A>G (p.Ile192Val) | Hypertrophic cardiomyopathy [RCV005077610] | uncertain significance | 3 | 46858258 | 46858258 | Human | 2 | name |
| 597939963 | CV3785243 | single nucleotide variant | NM_000258.3(MYL3):c.519G>A (p.Met173Ile) | Hypertrophic cardiomyopathy [RCV005133348] | uncertain significance | 3 | 46858424 | 46858424 | Human | 2 | name |
| 597941468 | CV3785798 | single nucleotide variant | NM_000258.3(MYL3):c.557A>G (p.Glu186Gly) | Hypertrophic cardiomyopathy [RCV005133691] | uncertain significance | 3 | 46858386 | 46858386 | Human | 2 | name |
| 597961030 | CV3794801 | single nucleotide variant | NM_000258.3(MYL3):c.302A>G (p.Gln101Arg) | Hypertrophic cardiomyopathy [RCV005138706] | uncertain significance | 3 | 46860681 | 46860681 | Human | 2 | name |
| 8602584 | CV40438 | single nucleotide variant | NM_000258.3(MYL3):c.466G>A (p.Val156Met) | Cardiomyopathy [RCV000769165]|Cardiovascular phenotype [RCV000617202]|Hypertrophic cardiomyopathy 8 [RCV001807740]|Hypertrophic cardiomyopathy [RCV000196294]|Increased left ventricular wall thickness [RCV000148717]|MYL3-related disorder [RCV004730856]|not provid ed [RCV000024469] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided | 3 | 46859490 | 46859490 | Human | 6 | name , trait , alternate_id |
| 8602585 | CV40439 | single nucleotide variant | NM_000258.3(MYL3):c.517A>G (p.Met173Val) | Cardiomyopathy [RCV001189931]|Cardiovascular phenotype [RCV004018673]|Hypertrophic cardiomyopathy 8 [RCV002482904]|Hypertrophic cardiomyopathy [RCV001857366]|not provided [RCV000024470]|not specified [RCV000036029] | pathogenic|uncertain significance|not provided | 3 | 46858426 | 46858426 | Human | 5 | name , alternate_id |
| 8602588 | CV40442 | single nucleotide variant | NM_000258.3(MYL3):c.454G>A (p.Glu152Lys) | Hypertrophic cardiomyopathy [RCV000628893]|not provided [RCV000024473] | likely pathogenic|uncertain significance|not provided | 3 | 46859502 | 46859502 | Human | 2 | name |
| 8602589 | CV40443 | single nucleotide variant | NM_000258.3(MYL3):c.463C>G (p.His155Asp) | Hypertrophic cardiomyopathy 8 [RCV005054141]|Hypertrophic cardiomyopathy [RCV000999575]|not provided [RCV000024474] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided | 3 | 46859493 | 46859493 | Human | 3 | name , alternate_id |
| 8602590 | CV40444 | single nucleotide variant | NM_000258.3(MYL3):c.382G>T (p.Gly128Cys) | not provided [RCV000024475] | not provided | 3 | 46859574 | 46859574 | Human | | name |
| 12907035 | CV414942 | single nucleotide variant | NM_000258.3(MYL3):c.449G>A (p.Gly150Asp) | Cardiovascular phenotype [RCV003168990]|Hypertrophic cardiomyopathy 8 [RCV002481549]|Hypertrophic cardiomyopathy [RCV004003421]|not provided [RCV000489948] | uncertain significance | 3 | 46859507 | 46859507 | Human | 3 | name , alternate_id |
| 13487890 | CV452439 | single nucleotide variant | NM_000258.3(MYL3):c.412C>T (p.Arg138Trp) | Hypertrophic cardiomyopathy [RCV000532064] | uncertain significance | 3 | 46859544 | 46859544 | Human | 2 | name |
| 13503362 | CV452743 | single nucleotide variant | NM_000258.3(MYL3):c.424A>G (p.Lys142Glu) | Hypertrophic cardiomyopathy [RCV000542221]|not provided [RCV000786177] | uncertain significance | 3 | 46859532 | 46859532 | Human | 2 | name |
| 8602993 | CV45310 | single nucleotide variant | NM_000258.3(MYL3):c.530A>G (p.Glu177Gly) | Cardiomyopathy [RCV000777869]|Cardiovascular phenotype [RCV000619160]|Hypertrophic cardiomyopathy 8 [RCV002490422]|Hypertrophic cardiomyopathy [RCV000475456]|MYL3-related disorder [RCV004752726]|Primary familial hypertrophic cardiomyopathy [RCV000030327]|not pro vided [RCV000766489]|not specified [RCV000223754] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters | 3 | 46858413 | 46858413 | Human | 7 | name , trait , alternate_id |
| 13520000 | CV487035 | single nucleotide variant | NM_000258.3(MYL3):c.397T>A (p.Phe133Ile) | Cardiomyopathy [RCV003532178]|not provided [RCV000586958] | uncertain significance | 3 | 46859559 | 46859559 | Human | 2 | name |
| 8605949 | CV52292 | single nucleotide variant | NM_000258.3(MYL3):c.338C>T (p.Thr113Ile) | Cardiomyopathy [RCV001188095]|Hypertrophic cardiomyopathy [RCV002513366]|not specified [RCV000036021] | uncertain significance | 3 | 46859618 | 46859618 | Human | 4 | name |
| 8605950 | CV52293 | single nucleotide variant | NM_000258.3(MYL3):c.446T>C (p.Met149Thr) | Cardiovascular phenotype [RCV002326733]|Hypertrophic cardiomyopathy 8 [RCV001807756]|Hypertrophic cardiomyopathy [RCV001852735]|not specified [RCV000036023] | likely pathogenic|uncertain significance | 3 | 46859510 | 46859510 | Human | 3 | name , alternate_id |
| 8605951 | CV52294 | single nucleotide variant | NM_000258.3(MYL3):c.460C>T (p.Arg154Cys) | Cardiomyopathy [RCV001185062]|Cardiovascular phenotype [RCV000621670]|Hypertrophic cardiomyopathy 8 [RCV004546418]|Hypertrophic cardiomyopathy [RCV000231173]|Primary familial hypertrophic cardiomyopathy [RCV000148718]|not provided [RCV004696648]|not specified [RCV000036024] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 3 | 46859496 | 46859496 | Human | 7 | name , alternate_id |
| 8605954 | CV52297 | single nucleotide variant | NM_000258.3(MYL3):c.520G>C (p.Ala174Pro) | Cardiomyopathy [RCV001170902]|Hypertrophic cardiomyopathy [RCV003996218]|not specified [RCV000036030] | uncertain significance | 3 | 46858423 | 46858423 | Human | 4 | name |
| 8605955 | CV52298 | single nucleotide variant | NM_000258.3(MYL3):c.532G>A (p.Asp178Asn) | Cardiomyopathy [RCV000769163]|Cardiovascular phenotype [RCV002345285]|Hypertrophic cardiomyopathy 8 [RCV005394218]|Hypertrophic cardiomyopathy [RCV000262754]|not provided [RCV000587491]|not specified [RCV000036031] | likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 46858411 | 46858411 | Human | 5 | name , alternate_id |
| 13810867 | CV559006 | single nucleotide variant | NM_000258.3(MYL3):c.347C>T (p.Pro116Leu) | Hypertrophic cardiomyopathy [RCV000688382] | uncertain significance | 3 | 46859609 | 46859609 | Human | 2 | name |
| 13812782 | CV559521 | single nucleotide variant | NM_000258.3(MYL3):c.518T>C (p.Met173Thr) | Cardiovascular phenotype [RCV002334375]|Hypertrophic cardiomyopathy [RCV000703925]|not provided [RCV001555473] | uncertain significance | 3 | 46858425 | 46858425 | Human | 2 | name |
| 13807021 | CV576329 | single nucleotide variant | NM_000258.3(MYL3):c.481G>T (p.Gly161Cys) | Hypertrophic cardiomyopathy 8 [RCV000710037] | uncertain significance | 3 | 46859475 | 46859475 | Human | 1 | name , alternate_id |
| 14688503 | CV614897 | single nucleotide variant | NM_000258.3(MYL3):c.419T>G (p.Phe140Cys) | Cardiomyopathy [RCV000769166] | uncertain significance | 3 | 46859537 | 46859537 | Human | 2 | name |
| 14692606 | CV616927 | single nucleotide variant | NM_000258.3(MYL3):c.521C>T (p.Ala174Val) | Cardiomyopathy [RCV000774149] | uncertain significance | 3 | 46858422 | 46858422 | Human | 2 | name |
| 14739786 | CV631458 | single nucleotide variant | NM_000258.3(MYL3):c.539A>G (p.Asn180Ser) | Cardiomyopathy [RCV001170901]|Hypertrophic cardiomyopathy [RCV000805087] | uncertain significance | 3 | 46858404 | 46858404 | Human | 4 | name |
| 26902877 | CV828189 | single nucleotide variant | NM_000258.3(MYL3):c.466G>C (p.Val156Leu) | Hypertrophic cardiomyopathy [RCV001052257]|Restrictive cardiomyopathy [RCV005054321] | uncertain significance | 3 | 46859490 | 46859490 | Human | 4 | name |
| 26901974 | CV828190 | single nucleotide variant | NM_000258.3(MYL3):c.349A>G (p.Met117Val) | Hypertrophic cardiomyopathy [RCV001045291] | uncertain significance | 3 | 46859607 | 46859607 | Human | 2 | name |
| 34897980 | CV909651 | single nucleotide variant | NM_000258.3(MYL3):c.577A>G (p.Met193Val) | Cardiomyopathy [RCV001186862]|Cardiovascular phenotype [RCV004986912]|Hypertrophic cardiomyopathy [RCV004008642]|not provided [RCV003332298] | uncertain significance | 3 | 46858255 | 46858255 | Human | 4 | name |
| 34893487 | CV909655 | single nucleotide variant | NM_000258.3(MYL3):c.502G>A (p.Glu168Lys) | Cardiomyopathy [RCV001176583]|Cardiovascular phenotype [RCV004986868]|Hypertrophic cardiomyopathy [RCV004006309] | uncertain significance | 3 | 46858441 | 46858441 | Human | 4 | name |
| 34895903 | CV909656 | single nucleotide variant | NM_000258.3(MYL3):c.499G>A (p.Asp167Asn) | Cardiomyopathy [RCV001178262]|Cardiovascular phenotype [RCV002339445]|Hypertrophic cardiomyopathy [RCV004006458] | uncertain significance | 3 | 46858444 | 46858444 | Human | 4 | name |
| 34890144 | CV909657 | single nucleotide variant | NM_000258.3(MYL3):c.488G>A (p.Arg163Lys) | Cardiomyopathy [RCV001181923]|Hypertrophic cardiomyopathy [RCV004807363] | uncertain significance | 3 | 46858455 | 46858455 | Human | 4 | name |
| 34890458 | CV909658 | single nucleotide variant | NM_000258.3(MYL3):c.484G>A (p.Glu162Lys) | Cardiomyopathy [RCV001182093]|Hypertrophic cardiomyopathy [RCV004008271]|not provided [RCV005057022] | uncertain significance | 3 | 46858459 | 46858459 | Human | 4 | name |
| 34893779 | CV909660 | single nucleotide variant | NM_000258.3(MYL3):c.476C>T (p.Thr159Met) | Cardiomyopathy [RCV001176824]|Cardiovascular phenotype [RCV002339439]|Hypertrophic cardiomyopathy [RCV001318351]|not provided [RCV001700985] | uncertain significance | 3 | 46859480 | 46859480 | Human | 4 | name |
| 34900571 | CV909663 | single nucleotide variant | NM_000258.3(MYL3):c.370A>T (p.Asn124Tyr) | Cardiomyopathy [RCV001190297]|Cardiovascular phenotype [RCV002348635]|Hypertrophic cardiomyopathy [RCV004010423] | uncertain significance | 3 | 46859586 | 46859586 | Human | 4 | name |
| 34897732 | CV909664 | single nucleotide variant | NM_000258.3(MYL3):c.367A>G (p.Lys123Glu) | Cardiomyopathy [RCV001186698]|Hypertrophic cardiomyopathy [RCV003586285] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 46859589 | 46859589 | Human | 4 | name |
| 34896716 | CV909665 | single nucleotide variant | NM_000258.3(MYL3):c.320A>G (p.Lys107Arg) | Cardiomyopathy [RCV001185855]|Hypertrophic cardiomyopathy [RCV005057045] | uncertain significance | 3 | 46859636 | 46859636 | Human | 4 | name |
| 38494669 | CV923219 | single nucleotide variant | NM_000258.3(MYL3):c.579G>A (p.Met193Ile) | Hypertrophic cardiomyopathy [RCV001225138] | uncertain significance | 3 | 46858253 | 46858253 | Human | 2 | name |
| 38457147 | CV953496 | single nucleotide variant | NM_000258.3(MYL3):c.508G>C (p.Glu170Gln) | Cardiovascular phenotype [RCV002339681]|Hypertrophic cardiomyopathy [RCV001245994] | uncertain significance | 3 | 46858435 | 46858435 | Human | 2 | name |
| 126764357 | CV989607 | single nucleotide variant | NM_000258.3(MYL3):c.358C>T (p.His120Tyr) | Hypertrophic cardiomyopathy [RCV001301058] | uncertain significance | 3 | 46859598 | 46859598 | Human | 2 | name |
| 38457170 | CV953499 | indel | NM_000258.3(MYL3):c.1_2delinsG (p.Met1fs) | Hypertrophic cardiomyopathy 8 [RCV002499421]|Hypertrophic cardiomyopathy [RCV003586290]|not provided [RCV001751495] | uncertain significance | 3 | 46863389 | 46863390 | Human | | name , alternate_id |
| 405103901 | CV2985849 | duplication | NM_000258.3(MYL3):c.563_566dup (p.Lys190fs) | Hypertrophic cardiomyopathy [RCV003749819] | uncertain significance | 3 | 46858265 | 46858266 | Human | 2 | name |
| 405729780 | CV3231125 | deletion | NM_000258.3(MYL3):c.485_501del (p.Glu162fs) | Hypertrophic cardiomyopathy [RCV004013706] | uncertain significance | 3 | 46858442 | 46858458 | Human | 2 | name |
| 38475715 | CV931964 | duplication | NM_000258.3(MYL3):c.401_405dup (p.Gly136fs) | Hypertrophic cardiomyopathy [RCV001204371] | uncertain significance | 3 | 46859550 | 46859551 | Human | 2 | name |
| 405725412 | CV3230516 | insertion | NM_000258.3(MYL3):c.455_456insT (p.Glu152fs) | Hypertrophic cardiomyopathy [RCV004013269] | uncertain significance | 3 | 46859500 | 46859501 | Human | 2 | name |
| 405725419 | CV3230517 | insertion | NM_000258.3(MYL3):c.458_459insCCAGCAAACCATTACTGCATGTCACCACG (p.Arg154fs) | Hypertrophic cardiomyopathy [RCV004013270] | uncertain significance | 3 | 46859497 | 46859498 | Human | 2 | name |
| 155986756 | CV2056144 | indel | NM_000258.3(MYL3):c.454_458delinsCTCACTCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCAGATGCTCCAGCAAACCATTACTGCATGTCACCACG (p.Glu152_Leu153delinsLeuThrArgProSerHisPheSerIleGlyValSerAlaTyrHisGlnGlyAlaTrpGlnIleSerMetAspProAspAlaProAlaAsnHisTyr CysMetSerProArg) | Hypertrophic cardiomyopathy [RCV002819016] | uncertain significance | 3 | 46859498 | 46859502 | Human | | name |
| 405725403 | CV3230515 | insertion | NM_000258.3(MYL3):c.453_454insCTCACTCGACCTTCTCACTTCTCCATAGGTGTCAGCGCCTACCACCAGGGGGCCTGGCAAATCAGCATGGATCCA (p.Ala151_Glu152insLeuThrArgProSerHisPheSerIleGlyValSerAlaTyrHisGlnGlyAlaTrpGlnIleSerMetAspPro) | Hypertrophic cardiomyopathy [RCV004013268] | uncertain significance | 3 | 46859502 | 46859503 | Human | 2 | name |