| 150440762 | CV1204446 | single nucleotide variant | NM_000432.4(MYL2):c.*9T>C | not provided [RCV001583551] | likely benign | 12 | 110911068 | 110911068 | Human | | name |
| 9833319 | CV179442 | single nucleotide variant | NM_000432.4(MYL2):c.-2C>T | Cardiomyopathy [RCV001526093]|Cardiovascular phenotype [RCV002433707]|not specified [RCV000158901] | likely benign|uncertain significance | 12 | 110920531 | 110920531 | Human | 2 | name |
| 401855308 | CV2753832 | single nucleotide variant | NM_000432.4(MYL2):c.-1C>T | Cardiovascular phenotype [RCV003339195] | uncertain significance | 12 | 110920530 | 110920530 | Human | | name |
| 34892739 | CV911889 | single nucleotide variant | NM_000432.4(MYL2):c.*3G>A | Cardiomyopathy [RCV001175984]|Hypertrophic cardiomyopathy [RCV004000310] | uncertain significance | 12 | 110911074 | 110911074 | Human | 4 | name |
| 34901304 | CV911919 | single nucleotide variant | NM_000432.4(MYL2):c.-3A>G | Cardiomyopathy [RCV001191486]|Hypertrophic cardiomyopathy [RCV004010516] | likely benign | 12 | 110920532 | 110920532 | Human | 4 | name |
| 127325757 | CV1160940 | single nucleotide variant | NM_000432.4(MYL2):c.4-5C>G | Cardiomyopathy [RCV001525538]|Hypertrophic cardiomyopathy 10 [RCV002568098] | likely benign|uncertain significance | 12 | 110919198 | 110919198 | Human | 3 | name , alternate_id |
| 150512292 | CV1212961 | single nucleotide variant | NM_000432.4(MYL2):c.*18C>G | not provided [RCV001598193] | benign | 12 | 110911059 | 110911059 | Human | | name |
| 150516289 | CV1228297 | single nucleotide variant | NM_000432.4(MYL2):c.-27G>A | not provided [RCV001639103] | benign | 12 | 110920556 | 110920556 | Human | | name |
| 150457626 | CV1237100 | single nucleotide variant | NM_000432.4(MYL2):c.-45G>A | not provided [RCV001648779] | benign | 12 | 110920574 | 110920574 | Human | | name |
| 150497916 | CV1256789 | single nucleotide variant | NM_000432.4(MYL2):c.*53C>G | not provided [RCV001676281] | benign | 12 | 110911024 | 110911024 | Human | | name |
| 150450038 | CV1260905 | single nucleotide variant | NM_000432.4(MYL2):c.*29C>T | not provided [RCV001680574] | benign | 12 | 110911048 | 110911048 | Human | | name |
| 8692133 | CV142099 | single nucleotide variant | NM_000432.4(MYL2):c.-46G>A | not specified [RCV000127028] | benign | 12 | 110920575 | 110920575 | Human | | name |
| 9833332 | CV179441 | single nucleotide variant | NM_000432.4(MYL2):c.3+1G>T | Cardiovascular phenotype [RCV003352787]|Hypertrophic cardiomyopathy 10 [RCV001342762]|Hypertrophic cardiomyopathy [RCV003998372]|not provided [RCV000158921] | pathogenic|likely pathogenic|uncertain significance | 12 | 110920526 | 110920526 | Human | 3 | name , alternate_id |
| 156383991 | CV1881571 | deletion | NM_000432.4(MYL2):c.4-8del | Hypertrophic cardiomyopathy 10 [RCV003067402]|Hypertrophic cardiomyopathy [RCV004808410] | benign|likely benign | 12 | 110919201 | 110919201 | Human | 3 | name , alternate_id |
| 156407949 | CV1911390 | single nucleotide variant | NM_000432.4(MYL2):c.4-9T>C | Hypertrophic cardiomyopathy 10 [RCV002607062] | likely benign | 12 | 110919202 | 110919202 | Human | 1 | name , alternate_id |
| 405065146 | CV2934714 | single nucleotide variant | NM_000432.4(MYL2):c.4-3C>G | Cardiomyopathy [RCV003532744] | uncertain significance | 12 | 110919196 | 110919196 | Human | 2 | name |
| 402512894 | CV2954771 | single nucleotide variant | NM_000432.4(MYL2):c.3+5G>C | Hypertrophic cardiomyopathy 10 [RCV003629590] | uncertain significance | 12 | 110920522 | 110920522 | Human | 1 | name , alternate_id |
| 405048945 | CV3018261 | single nucleotide variant | NM_000432.4(MYL2):c.4-8T>A | Hypertrophic cardiomyopathy 10 [RCV003631002] | likely benign | 12 | 110919201 | 110919201 | Human | 1 | name , alternate_id |
| 11660102 | CV316036 | single nucleotide variant | NM_000432.4(MYL2):c.-12G>C | Hypertrophic cardiomyopathy 10 [RCV000363947] | uncertain significance | 12 | 110920541 | 110920541 | Human | 1 | name , alternate_id |
| 405688224 | CV3225646 | single nucleotide variant | NM_000432.4(MYL2):c.3+1G>A | Hypertrophic cardiomyopathy 10 [RCV003990704]|Hypertrophic cardiomyopathy [RCV004006195] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 12 | 110920526 | 110920526 | Human | 3 | name , alternate_id |
| 405735859 | CV3229801 | single nucleotide variant | NM_000432.4(MYL2):c.4-4C>T | Hypertrophic cardiomyopathy [RCV004014369] | likely benign | 12 | 110919197 | 110919197 | Human | 2 | name |
| 11658468 | CV329388 | deletion | NM_000432.4(MYL2):c.4-3del | Hypertrophic cardiomyopathy 10 [RCV003514347]|Hypertrophic cardiomyopathy [RCV000348855] | benign|uncertain significance | 12 | 110919196 | 110919196 | Human | 3 | name , alternate_id |
| 11618457 | CV329400 | single nucleotide variant | NM_000432.4(MYL2):c.3+9A>G | Hypertrophic cardiomyopathy 10 [RCV000461436]|Hypertrophic cardiomyopathy [RCV000313911]|MYL2-related disorder [RCV004544526] | benign|likely benign|uncertain significance | 12 | 110920518 | 110920518 | Human | 3 | name , trait , alternate_id |
| 11625271 | CV329402 | single nucleotide variant | NM_000432.4(MYL2):c.-28C>T | Hypertrophic cardiomyopathy 10 [RCV000396666] | likely benign|uncertain significance | 12 | 110920557 | 110920557 | Human | 1 | name , alternate_id |
| 596943120 | CV3546509 | single nucleotide variant | NM_000432.4(MYL2):c.3+6T>C | Hypertrophic cardiomyopathy [RCV004807633] | uncertain significance | 12 | 110920521 | 110920521 | Human | 2 | name |
| 597884396 | CV3858079 | single nucleotide variant | NM_000432.4(MYL2):c.3+7A>C | Hypertrophic cardiomyopathy 10 [RCV005199507] | likely benign | 12 | 110920520 | 110920520 | Human | 1 | name , alternate_id |
| 12890093 | CV398961 | single nucleotide variant | NM_000432.4(MYL2):c.4-5C>T | Cardiovascular phenotype [RCV005384728]|Hypertrophic cardiomyopathy 10 [RCV001411676] | likely benign|uncertain significance | 12 | 110919198 | 110919198 | Human | 1 | name , alternate_id |
| 8602992 | CV45309 | single nucleotide variant | NM_000432.4(MYL2):c.*10C>T | Hypertrophic cardiomyopathy 10 [RCV000341584]|not provided [RCV001696177]|not specified [RCV003234928] | benign|uncertain significance | 12 | 110911067 | 110911067 | Human | 1 | name , alternate_id |
| 13607754 | CV526674 | single nucleotide variant | NM_000432.4(MYL2):c.4-8T>C | Cardiomyopathy [RCV001176617]|Hypertrophic cardiomyopathy 10 [RCV001391699]|Hypertrophic cardiomyopathy [RCV004003901] | likely benign | 12 | 110919201 | 110919201 | Human | 5 | name , alternate_id |
| 21072461 | CV791195 | single nucleotide variant | NM_000432.4(MYL2):c.3+2T>C | Hypertrophic cardiomyopathy 10 [RCV000988909]|MYL2-related disorder [RCV004545886] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity | 12 | 110920525 | 110920525 | Human | 1 | name , trait , alternate_id |
| 28873241 | CV869284 | single nucleotide variant | NM_000432.4(MYL2):c.*84C>T | Hypertrophic cardiomyopathy 10 [RCV001114908]|Hypertrophic cardiomyopathy 10 [RCV002482211] | uncertain significance | 12 | 110910993 | 110910993 | Human | 1 | name , alternate_id |
| 28912065 | CV869288 | single nucleotide variant | NM_000432.3(MYL2):c.-62C>A | Hypertrophic cardiomyopathy 10 [RCV001111588] | uncertain significance | 12 | 110920591 | 110920591 | Human | 1 | name , alternate_id |
| 28912066 | CV872191 | single nucleotide variant | NM_000432.3(MYL2):c.-72T>C | Hypertrophic cardiomyopathy 10 [RCV001111589] | uncertain significance | 12 | 110920601 | 110920601 | Human | 1 | name , alternate_id |
| 34894607 | CV911920 | single nucleotide variant | NM_000432.4(MYL2):c.-12G>A | Cardiomyopathy [RCV001177452] | uncertain significance | 12 | 110920541 | 110920541 | Human | 2 | name |
| 34889419 | CV916453 | single nucleotide variant | NM_000432.4(MYL2):c.4-9T>A | Cardiomyopathy [RCV001181450]|Hypertrophic cardiomyopathy 10 [RCV003629163] | likely benign | 12 | 110919202 | 110919202 | Human | 3 | name , alternate_id |
| 150500539 | CV1213176 | single nucleotide variant | NM_000432.4(MYL2):c.*117A>C | not provided [RCV001594588] | benign | 12 | 110910960 | 110910960 | Human | | name |
| 150515740 | CV1227653 | single nucleotide variant | NM_000432.4(MYL2):c.4-77A>T | not provided [RCV001638927] | benign | 12 | 110919270 | 110919270 | Human | | name |
| 150489259 | CV1237623 | single nucleotide variant | NM_000432.4(MYL2):c.*127C>T | not provided [RCV001654472] | benign | 12 | 110910950 | 110910950 | Human | | name |
| 150503807 | CV1240628 | single nucleotide variant | NM_000432.4(MYL2):c.3+33C>T | not provided [RCV001657471] | benign | 12 | 110920494 | 110920494 | Human | | name |
| 151754432 | CV1343193 | single nucleotide variant | NM_000432.4(MYL2):c.93+4G>A | Hypertrophic cardiomyopathy 10 [RCV002043613] | uncertain significance | 12 | 110919100 | 110919100 | Human | 1 | name , alternate_id |
| 151774784 | CV1362013 | single nucleotide variant | NM_000432.4(MYL2):c.93+1G>A | Cardiomyopathy [RCV005401876]|Hypertrophic cardiomyopathy 10 [RCV001950506]|Hypertrophic cardiomyopathy [RCV004010957] | uncertain significance | 12 | 110919103 | 110919103 | Human | 5 | name , alternate_id |
| 8688947 | CV136734 | single nucleotide variant | NM_000432.4(MYL2):c.4-13T>C | not provided [RCV000119396] | not provided | 12 | 110919206 | 110919206 | Human | | name |
| 151748259 | CV1367601 | single nucleotide variant | NM_000432.4(MYL2):c.3+13G>T | Hypertrophic cardiomyopathy 10 [RCV001894047] | likely benign|uncertain significance | 12 | 110920514 | 110920514 | Human | 1 | name , alternate_id |
| 152130237 | CV1519605 | single nucleotide variant | NM_000432.4(MYL2):c.4-19C>T | Hypertrophic cardiomyopathy 10 [RCV002155431] | likely benign | 12 | 110919212 | 110919212 | Human | 1 | name , alternate_id |
| 152155469 | CV1620432 | single nucleotide variant | NM_000432.4(MYL2):c.93+9A>G | Hypertrophic cardiomyopathy 10 [RCV002122353] | likely benign | 12 | 110919095 | 110919095 | Human | 1 | name , alternate_id |
| 9690016 | CV175393 | deletion | NM_000432.4(MYL2):c.4-14del | Cardiomyopathy [RCV000158898]|Hypertrophic cardiomyopathy 10 [RCV001803091]|not specified [RCV000155660] | benign | 12 | 110919207 | 110919207 | Human | 3 | name , alternate_id |
| 9833314 | CV179440 | single nucleotide variant | NM_000432.4(MYL2):c.4-18G>A | Hypertrophic cardiomyopathy 10 [RCV002053908]|not specified [RCV000158894] | benign|likely benign | 12 | 110919211 | 110919211 | Human | 1 | name , alternate_id |
| 156216502 | CV1910648 | single nucleotide variant | NM_000432.4(MYL2):c.3+14C>T | Hypertrophic cardiomyopathy 10 [RCV002596285] | likely benign | 12 | 110920513 | 110920513 | Human | 1 | name , alternate_id |
| 156140385 | CV1921762 | single nucleotide variant | NM_000432.4(MYL2):c.3+20G>A | Hypertrophic cardiomyopathy 10 [RCV002623637] | likely benign | 12 | 110920507 | 110920507 | Human | 1 | name , alternate_id |
| 156285266 | CV2134091 | single nucleotide variant | NM_000432.4(MYL2):c.94-1G>C | Hypertrophic cardiomyopathy 10 [RCV003009745] | uncertain significance | 12 | 110915791 | 110915791 | Human | 1 | name , alternate_id |
| 11601957 | CV316034 | single nucleotide variant | NM_000432.4(MYL2):c.*102C>A | Hypertrophic cardiomyopathy 10 [RCV000286639]|not provided [RCV001672464] | benign|uncertain significance | 12 | 110910975 | 110910975 | Human | 1 | name , alternate_id |
| 405740686 | CV3229262 | single nucleotide variant | NM_000432.4(MYL2):c.4-15G>T | Hypertrophic cardiomyopathy [RCV004015005] | likely benign | 12 | 110919208 | 110919208 | Human | 2 | name |
| 405732520 | CV3229440 | single nucleotide variant | NM_000432.4(MYL2):c.4-15G>A | Hypertrophic cardiomyopathy [RCV004014007] | likely benign | 12 | 110919208 | 110919208 | Human | 2 | name |
| 597836497 | CV3757697 | single nucleotide variant | NM_000432.4(MYL2):c.4-16T>C | Hypertrophic cardiomyopathy 10 [RCV005085711] | likely benign | 12 | 110919209 | 110919209 | Human | 1 | name , alternate_id |
| 597883702 | CV3799474 | single nucleotide variant | NM_000432.4(MYL2):c.3+15T>C | Hypertrophic cardiomyopathy 10 [RCV005150141] | likely benign | 12 | 110920512 | 110920512 | Human | 1 | name , alternate_id |
| 616935702 | CV4010266 | single nucleotide variant | NM_000432.4(MYL2):c.94-3C>G | Cardiomyopathy [RCV005403567] | uncertain significance | 12 | 110915793 | 110915793 | Human | 2 | name |
| 13495011 | CV461616 | single nucleotide variant | NM_000432.4(MYL2):c.94-9C>T | Hypertrophic cardiomyopathy 10 [RCV000559322] | likely benign | 12 | 110915799 | 110915799 | Human | 1 | name , alternate_id |
| 8606297 | CV52644 | single nucleotide variant | NM_000432.4(MYL2):c.4-14C>T | Cardiomyopathy [RCV000771118]|Congestive heart failure [RCV003125848]|Hypertrophic cardiomyopathy 10 [RCV000625191]|not provided [RCV001642556]|not specified [RCV000036403] | benign|likely benign | 12 | 110919207 | 110919207 | Human | 5 | name , alternate_id |
| 14688585 | CV615217 | single nucleotide variant | NM_000432.4(MYL2):c.94-3C>T | Cardiomyopathy [RCV000769368]|Hypertrophic cardiomyopathy 10 [RCV001373378]|Hypertrophic cardiomyopathy [RCV004807128] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 110915793 | 110915793 | Human | 5 | name , alternate_id |
| 14718784 | CV665404 | single nucleotide variant | NM_000432.4(MYL2):c.3+65G>A | not provided [RCV000830502] | likely benign | 12 | 110920462 | 110920462 | Human | | name |
| 14718786 | CV666260 | single nucleotide variant | NM_000432.4(MYL2):c.3+97C>T | not provided [RCV000830503] | benign | 12 | 110920430 | 110920430 | Human | | name |
| 28870288 | CV869283 | single nucleotide variant | NM_000432.4(MYL2):c.*166G>A | Hypertrophic cardiomyopathy 10 [RCV001113490] | uncertain significance | 12 | 110910911 | 110910911 | Human | 1 | name , alternate_id |
| 34894937 | CV915792 | duplication | NM_000432.4(MYL2):c.4-13dup | Cardiomyopathy [RCV001177730]|Hypertrophic cardiomyopathy 10 [RCV005093786] | benign|likely benign | 12 | 110919200 | 110919201 | Human | 3 | name , alternate_id |
| 34895082 | CV916173 | single nucleotide variant | NM_000432.4(MYL2):c.93+5G>A | Cardiomyopathy [RCV001177826]|Cardiovascular phenotype [RCV003163397] | uncertain significance | 12 | 110919099 | 110919099 | Human | 2 | name |
| 127232589 | CV1100847 | single nucleotide variant | NM_000432.4(MYL2):c.403-7A>C | Hypertrophic cardiomyopathy 10 [RCV001421367] | likely benign | 12 | 110911182 | 110911182 | Human | 1 | name , alternate_id |
| 127258928 | CV1100849 | single nucleotide variant | NM_000432.4(MYL2):c.354-8C>A | Hypertrophic cardiomyopathy 10 [RCV001427495] | likely benign | 12 | 110913152 | 110913152 | Human | 1 | name , alternate_id |
| 150426529 | CV1187833 | single nucleotide variant | NM_000432.4(MYL2):c.4-213A>G | not provided [RCV001559692] | likely benign | 12 | 110919406 | 110919406 | Human | | name |
| 150421132 | CV1194608 | single nucleotide variant | NM_000432.4(MYL2):c.3+202G>A | not provided [RCV001570416] | likely benign | 12 | 110920325 | 110920325 | Human | | name |
| 150418124 | CV1198299 | single nucleotide variant | NM_000432.4(MYL2):c.3+254C>T | not provided [RCV001576608] | likely benign | 12 | 110920273 | 110920273 | Human | | name |
| 150457661 | CV1202652 | single nucleotide variant | NM_000432.4(MYL2):c.3+249A>G | not provided [RCV001586305] | likely benign | 12 | 110920278 | 110920278 | Human | | name |
| 150492385 | CV1238165 | deletion | NM_000432.4(MYL2):c.274+8del | not provided [RCV001655011] | benign | 12 | 110914178 | 110914178 | Human | | name |
| 150471880 | CV1281094 | single nucleotide variant | NM_000432.4(MYL2):c.354-6C>G | Hypertrophic cardiomyopathy 10 [RCV002073345]|not provided [RCV001713276] | likely benign | 12 | 110913150 | 110913150 | Human | 1 | name , alternate_id |
| 151349272 | CV1322876 | single nucleotide variant | NM_000432.4(MYL2):c.275-2A>G | Cardiomyopathy [RCV001804672]|Hypertrophic cardiomyopathy 10 [RCV001869529] | uncertain significance | 12 | 110913326 | 110913326 | Human | 3 | name , alternate_id |
| 151885781 | CV1340961 | single nucleotide variant | NM_000432.4(MYL2):c.94-19A>G | Hypertrophic cardiomyopathy 10 [RCV001962618] | likely benign | 12 | 110915809 | 110915809 | Human | 1 | name , alternate_id |
| 151824348 | CV1456375 | single nucleotide variant | NM_000432.4(MYL2):c.93+11C>G | Hypertrophic cardiomyopathy 10 [RCV002050109] | uncertain significance | 12 | 110919093 | 110919093 | Human | 1 | name , alternate_id |
| 151888475 | CV1502240 | single nucleotide variant | NM_000432.4(MYL2):c.274+4A>G | Hypertrophic cardiomyopathy 10 [RCV001942595] | uncertain significance | 12 | 110914182 | 110914182 | Human | 1 | name , alternate_id |
| 152163812 | CV1575515 | single nucleotide variant | NM_000432.4(MYL2):c.353+9G>A | Hypertrophic cardiomyopathy 10 [RCV002181407] | likely benign | 12 | 110913237 | 110913237 | Human | 1 | name , alternate_id |
| 152116957 | CV1622935 | single nucleotide variant | NM_000432.4(MYL2):c.94-15A>C | Hypertrophic cardiomyopathy 10 [RCV002117320] | likely benign | 12 | 110915805 | 110915805 | Human | 1 | name , alternate_id |
| 152123369 | CV1641115 | single nucleotide variant | NM_000432.4(MYL2):c.93+15T>C | Hypertrophic cardiomyopathy 10 [RCV002098471] | likely benign | 12 | 110919089 | 110919089 | Human | 1 | name , alternate_id |
| 152135467 | CV1642308 | single nucleotide variant | NM_000432.4(MYL2):c.94-16C>G | Hypertrophic cardiomyopathy 10 [RCV002119643] | likely benign | 12 | 110915806 | 110915806 | Human | 1 | name , alternate_id |
| 152094355 | CV1648362 | single nucleotide variant | NM_000432.4(MYL2):c.274+7T>C | Hypertrophic cardiomyopathy 10 [RCV002114501] | likely benign | 12 | 110914179 | 110914179 | Human | 1 | name , alternate_id |
| 9833320 | CV179428 | deletion | NM_000432.4(MYL2):c.274+9del | Cardiomyopathy [RCV000158902] | benign | 12 | 110914177 | 110914177 | Human | 2 | name |
| 156398351 | CV1881011 | single nucleotide variant | NM_000432.4(MYL2):c.403-1G>A | Hypertrophic cardiomyopathy 10 [RCV003068888]|Hypertrophic cardiomyopathy [RCV004009348] | pathogenic|uncertain significance | 12 | 110911176 | 110911176 | Human | 3 | name , alternate_id |
| 156399925 | CV1892737 | single nucleotide variant | NM_000432.4(MYL2):c.402+9G>A | Hypertrophic cardiomyopathy 10 [RCV003069033] | likely benign | 12 | 110913087 | 110913087 | Human | 1 | name , alternate_id |
| 156213925 | CV2074394 | single nucleotide variant | NM_000432.4(MYL2):c.169+3A>T | Hypertrophic cardiomyopathy 10 [RCV002829411] | uncertain significance | 12 | 110915712 | 110915712 | Human | 1 | name , alternate_id |
| 10449892 | CV215442 | single nucleotide variant | NM_000432.4(MYL2):c.353+6T>A | Cardiomyopathy [RCV001181055]|Cardiovascular phenotype [RCV005404385]|Hypertrophic cardiomyopathy 10 [RCV000203063]|Hypertrophic cardiomyopathy [RCV003997049] | uncertain significance | 12 | 110913240 | 110913240 | Human | 5 | name , alternate_id |
| 156073564 | CV2172774 | single nucleotide variant | NM_000432.4(MYL2):c.94-17T>C | Hypertrophic cardiomyopathy 10 [RCV003053792] | likely benign | 12 | 110915807 | 110915807 | Human | 1 | name , alternate_id |
| 156212521 | CV2176358 | single nucleotide variant | NM_000432.4(MYL2):c.402+7G>C | Hypertrophic cardiomyopathy 10 [RCV003024861] | likely benign | 12 | 110913089 | 110913089 | Human | 1 | name , alternate_id |
| 10768130 | CV222204 | single nucleotide variant | NM_000432.4(MYL2):c.403-4G>C | Hypertrophic cardiomyopathy 10 [RCV001448295]|Hypertrophic cardiomyopathy [RCV003997565]|not specified [RCV005406941] | likely benign | 12 | 110911179 | 110911179 | Human | 3 | name , alternate_id |
| 11346439 | CV241238 | single nucleotide variant | NM_000432.4(MYL2):c.402+6G>C | Cardiomyopathy [RCV001175834]|Hypertrophic cardiomyopathy 10 [RCV000228499]|MYL2-related disorder [RCV004532840] | likely benign|uncertain significance | 12 | 110913090 | 110913090 | Human | 3 | name , trait , alternate_id |
| 401943429 | CV2840040 | single nucleotide variant | NM_000432.4(MYL2):c.403-3C>G | not provided [RCV003456827] | uncertain significance | 12 | 110911178 | 110911178 | Human | | name |
| 405015771 | CV2865967 | single nucleotide variant | NM_000432.4(MYL2):c.93+14T>G | Hypertrophic cardiomyopathy 10 [RCV003515388] | likely benign | 12 | 110919090 | 110919090 | Human | 1 | name , alternate_id |
| 405065126 | CV2934712 | single nucleotide variant | NM_000432.4(MYL2):c.170-4C>T | Cardiomyopathy [RCV003532742]|Hypertrophic cardiomyopathy 10 [RCV005100380] | likely benign | 12 | 110914294 | 110914294 | Human | 3 | name , alternate_id |
| 402511164 | CV2948755 | single nucleotide variant | NM_000432.4(MYL2):c.403-9T>C | Hypertrophic cardiomyopathy 10 [RCV003629447] | likely benign | 12 | 110911184 | 110911184 | Human | 1 | name , alternate_id |
| 402520672 | CV2970597 | single nucleotide variant | NM_000432.4(MYL2):c.274+9G>C | Hypertrophic cardiomyopathy 10 [RCV003630181] | likely benign | 12 | 110914177 | 110914177 | Human | 1 | name , alternate_id |
| 402504491 | CV3029459 | single nucleotide variant | NM_000432.4(MYL2):c.354-4G>A | Hypertrophic cardiomyopathy 10 [RCV003628609] | likely benign | 12 | 110913148 | 110913148 | Human | 1 | name , alternate_id |
| 402514771 | CV3062003 | single nucleotide variant | NM_000432.4(MYL2):c.274+4A>C | Cardiovascular phenotype [RCV004654325]|Hypertrophic cardiomyopathy 10 [RCV003629750] | uncertain significance | 12 | 110914182 | 110914182 | Human | 1 | name , alternate_id |
| 405124580 | CV3136443 | single nucleotide variant | NM_000432.4(MYL2):c.403-3C>A | Hypertrophic cardiomyopathy 10 [RCV003837773]|Hypertrophic cardiomyopathy [RCV004006106] | uncertain significance | 12 | 110911178 | 110911178 | Human | 3 | name , alternate_id |
| 402480409 | CV3170684 | deletion | NM_000432.4(MYL2):c.402+9del | Hypertrophic cardiomyopathy 10 [RCV003875886] | benign | 12 | 110913087 | 110913087 | Human | 1 | name , alternate_id |
| 404994044 | CV3176514 | single nucleotide variant | NM_000432.4(MYL2):c.354-8C>T | Hypertrophic cardiomyopathy 10 [RCV003881946] | likely benign | 12 | 110913152 | 110913152 | Human | 1 | name , alternate_id |
| 405730995 | CV3229090 | single nucleotide variant | NM_000432.4(MYL2):c.170-3T>C | Hypertrophic cardiomyopathy [RCV004013840] | likely benign | 12 | 110914293 | 110914293 | Human | 2 | name |
| 405736359 | CV3230690 | single nucleotide variant | NM_000432.4(MYL2):c.402+1G>A | Hypertrophic cardiomyopathy [RCV004014436] | uncertain significance | 12 | 110913095 | 110913095 | Human | 2 | name |
| 405752074 | CV3232050 | deletion | NM_000432.4(MYL2):c.354-7del | Hypertrophic cardiomyopathy [RCV004016366] | likely benign | 12 | 110913151 | 110913151 | Human | 2 | name |
| 405702994 | CV3233501 | single nucleotide variant | NM_000432.4(MYL2):c.402+5T>A | Hypertrophic cardiomyopathy [RCV004009958] | likely benign | 12 | 110913091 | 110913091 | Human | 2 | name |
| 405746619 | CV3234812 | single nucleotide variant | NM_000432.4(MYL2):c.354-7T>C | Hypertrophic cardiomyopathy [RCV004015687] | likely benign | 12 | 110913151 | 110913151 | Human | 2 | name |
| 11661064 | CV329386 | single nucleotide variant | NM_000432.4(MYL2):c.402+8G>T | Hypertrophic cardiomyopathy 10 [RCV000372860] | conflicting interpretations of pathogenicity|uncertain significance | 12 | 110913088 | 110913088 | Human | 1 | name , alternate_id |
| 12844579 | CV374583 | single nucleotide variant | NM_000432.4(MYL2):c.275-7G>A | Cardiomyopathy [RCV001170437]|Hypertrophic cardiomyopathy 10 [RCV000474463]|Hypertrophic cardiomyopathy [RCV003995973]|not provided [RCV005243223]|not specified [RCV000438240] | benign|likely benign | 12 | 110913331 | 110913331 | Human | 5 | name , alternate_id |
| 597976428 | CV3829602 | single nucleotide variant | NM_000432.4(MYL2):c.93+11C>T | Hypertrophic cardiomyopathy 10 [RCV005169869] | likely benign | 12 | 110919093 | 110919093 | Human | 1 | name , alternate_id |
| 597873450 | CV3836196 | single nucleotide variant | NM_000432.4(MYL2):c.93+17A>T | Hypertrophic cardiomyopathy 10 [RCV005176993] | likely benign | 12 | 110919087 | 110919087 | Human | 1 | name , alternate_id |
| 597939556 | CV3836475 | single nucleotide variant | NM_000432.4(MYL2):c.94-14C>T | Hypertrophic cardiomyopathy 10 [RCV005187496] | likely benign | 12 | 110915804 | 110915804 | Human | 1 | name , alternate_id |
| 597898997 | CV3854619 | single nucleotide variant | NM_000432.4(MYL2):c.169+6T>G | Hypertrophic cardiomyopathy 10 [RCV005201727] | uncertain significance | 12 | 110915709 | 110915709 | Human | 1 | name , alternate_id |
| 12896914 | CV389976 | single nucleotide variant | NM_000432.4(MYL2):c.403-1G>T | Cardiomyopathy [RCV005401440]|Hypertrophic cardiomyopathy 10 [RCV000801781]|not specified [RCV000455988] | pathogenic|uncertain significance | 12 | 110911176 | 110911176 | Human | 3 | name , alternate_id |
| 12885707 | CV398525 | single nucleotide variant | NM_000432.4(MYL2):c.353+7G>A | Hypertrophic cardiomyopathy 10 [RCV000465883] | likely benign | 12 | 110913239 | 110913239 | Human | 1 | name , alternate_id |
| 12892103 | CV398826 | single nucleotide variant | NM_000432.4(MYL2):c.354-6C>T | Hypertrophic cardiomyopathy 10 [RCV001470990]|not specified [RCV005407136] | likely benign | 12 | 110913150 | 110913150 | Human | 1 | name , alternate_id |
| 616935646 | CV4010231 | single nucleotide variant | NM_000432.4(MYL2):c.402+4A>T | Cardiomyopathy [RCV005403532] | uncertain significance | 12 | 110913092 | 110913092 | Human | 2 | name |
| 8602573 | CV40427 | single nucleotide variant | NM_000432.4(MYL2):c.354-2A>G | not provided [RCV000024458] | not provided | 12 | 110913146 | 110913146 | Human | | name |
| 8602574 | CV40428 | single nucleotide variant | NM_000432.4(MYL2):c.403-1G>C | Cardiomyopathy [RCV005402804]|Cardiovascular phenotype [RCV003162260]|Hypertrophic cardiomyopathy 10 [RCV000466598]|Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy [RCV001553791]|not provided [RCV000024459] | pathogenic|likely pathogenic|uncertain significance|not provided | 12 | 110911176 | 110911176 | Human | 4 | name , alternate_id |
| 8602579 | CV40433 | single nucleotide variant | NM_000432.4(MYL2):c.274+1G>C | not provided [RCV000024464] | not provided | 12 | 110914185 | 110914185 | Human | | name |
| 13509972 | CV482008 | single nucleotide variant | NM_000432.4(MYL2):c.402+1G>T | Hypertrophic cardiomyopathy 10 [RCV001860014]|not provided [RCV000579194] | uncertain significance | 12 | 110913095 | 110913095 | Human | 1 | name , alternate_id |
| 8606286 | CV52633 | single nucleotide variant | NM_000432.4(MYL2):c.274+8C>T | Hypertrophic cardiomyopathy 10 [RCV000872988]|MYL2-related disorder [RCV004541093]|not specified [RCV000036389] | likely benign | 12 | 110914178 | 110914178 | Human | 1 | name , trait , alternate_id |
| 8606287 | CV52634 | single nucleotide variant | NM_000432.4(MYL2):c.274+9G>A | Cardiomyopathy [RCV003149628]|Hypertrophic cardiomyopathy 10 [RCV000474766]|Hypertrophic cardiomyopathy [RCV000392808]|not specified [RCV000036390] | likely benign|uncertain significance | 12 | 110914177 | 110914177 | Human | 5 | name , alternate_id |
| 13607752 | CV526680 | single nucleotide variant | NM_000432.4(MYL2):c.275-8C>A | Hypertrophic cardiomyopathy 10 [RCV000639681] | uncertain significance | 12 | 110913332 | 110913332 | Human | 1 | name , alternate_id |
| 14689042 | CV615216 | single nucleotide variant | NM_000432.4(MYL2):c.274+6G>T | Cardiomyopathy [RCV000770396]|Hypertrophic cardiomyopathy 10 [RCV001855727] | uncertain significance | 12 | 110914180 | 110914180 | Human | 3 | name , alternate_id |
| 14741874 | CV652398 | single nucleotide variant | NM_000432.4(MYL2):c.354-3C>G | Hypertrophic cardiomyopathy 10 [RCV000822431]|Hypertrophic cardiomyopathy [RCV004807206]|not provided [RCV001766743] | uncertain significance | 12 | 110913147 | 110913147 | Human | 3 | name , alternate_id |
| 14708926 | CV665403 | deletion | NM_000432.4(MYL2):c.3+218del | not provided [RCV000832047] | benign | 12 | 110920309 | 110920309 | Human | | name |
| 14709919 | CV666512 | single nucleotide variant | NM_000432.4(MYL2):c.275-8C>T | Cardiomyopathy [RCV001186858]|Hypertrophic cardiomyopathy 10 [RCV001078614]|not provided [RCV000827559] | likely benign | 12 | 110913332 | 110913332 | Human | 3 | name , alternate_id |
| 15127640 | CV685303 | single nucleotide variant | NM_000432.4(MYL2):c.169+7C>T | Hypertrophic cardiomyopathy 10 [RCV000862949] | likely benign | 12 | 110915708 | 110915708 | Human | 1 | name , alternate_id |
| 26884853 | CV852655 | single nucleotide variant | NM_000432.4(MYL2):c.170-1G>A | Cardiovascular phenotype [RCV002400306]|Hypertrophic cardiomyopathy 10 [RCV001052699]|Hypertrophic cardiomyopathy [RCV004000054] | uncertain significance | 12 | 110914291 | 110914291 | Human | 3 | name , alternate_id |
| 34897592 | CV915786 | single nucleotide variant | NM_000432.4(MYL2):c.403-6T>C | Cardiomyopathy [RCV001179272]|Hypertrophic cardiomyopathy 10 [RCV002558905] | likely benign|uncertain significance | 12 | 110911181 | 110911181 | Human | 3 | name , alternate_id |
| 34899797 | CV915790 | single nucleotide variant | NM_000432.4(MYL2):c.94-10C>T | Cardiomyopathy [RCV001189000]|Hypertrophic cardiomyopathy 10 [RCV003629177] | likely benign | 12 | 110915800 | 110915800 | Human | 3 | name , alternate_id |
| 34901085 | CV916159 | single nucleotide variant | NM_000432.4(MYL2):c.403-8C>T | Cardiomyopathy [RCV001191155]|Hypertrophic cardiomyopathy 10 [RCV001459181] | likely benign | 12 | 110911183 | 110911183 | Human | 3 | name , alternate_id |
| 34894539 | CV916164 | single nucleotide variant | NM_000432.4(MYL2):c.275-1G>A | Cardiomyopathy [RCV001184685] | uncertain significance | 12 | 110913325 | 110913325 | Human | 2 | name |
| 34897500 | CV916446 | single nucleotide variant | NM_000432.4(MYL2):c.402+3A>G | Cardiomyopathy [RCV001179212]|Hypertrophic cardiomyopathy [RCV004006544] | uncertain significance | 12 | 110913093 | 110913093 | Human | 4 | name |
| 34893730 | CV916449 | single nucleotide variant | NM_000432.4(MYL2):c.354-8C>G | Cardiomyopathy [RCV001176772]|Hypertrophic cardiomyopathy 10 [RCV003629151] | likely benign | 12 | 110913152 | 110913152 | Human | 3 | name , alternate_id |
| 38499350 | CV960774 | single nucleotide variant | NM_000432.4(MYL2):c.353+4A>C | Cardiomyopathy [RCV005401812]|Hypertrophic cardiomyopathy 10 [RCV001244522] | uncertain significance | 12 | 110913242 | 110913242 | Human | 3 | name , alternate_id |
| 150340065 | CV1168257 | single nucleotide variant | NM_000432.4(MYL2):c.274+53G>A | not provided [RCV001534932] | benign | 12 | 110914133 | 110914133 | Human | | name |
| 150419788 | CV1194607 | single nucleotide variant | NM_000432.4(MYL2):c.94-169C>G | not provided [RCV001569837] | likely benign | 12 | 110915959 | 110915959 | Human | | name |
| 150445977 | CV1215584 | single nucleotide variant | NM_000432.4(MYL2):c.94-168G>A | not provided [RCV001611177] | benign | 12 | 110915958 | 110915958 | Human | | name |
| 150492324 | CV1225451 | deletion | NM_000432.4(MYL2):c.274+10del | not provided [RCV001618966] | benign | 12 | 110914176 | 110914176 | Human | | name |
| 150434253 | CV1230743 | deletion | NM_000432.4(MYL2):c.274+15del | not provided [RCV001643689] | benign | 12 | 110914171 | 110914171 | Human | | name |
| 150450041 | CV1232628 | deletion | NM_000432.4(MYL2):c.274+59del | not provided [RCV001647703] | benign | 12 | 110914127 | 110914127 | Human | | name |
| 150505751 | CV1254695 | deletion | NM_000432.4(MYL2):c.403-96del | not provided [RCV001678000] | benign | 12 | 110911271 | 110911271 | Human | | name |
| 150481557 | CV1258940 | deletion | NM_000432.4(MYL2):c.274+27del | not provided [RCV001686070] | benign | 12 | 110914159 | 110914159 | Human | | name |
| 150466203 | CV1268735 | single nucleotide variant | NM_000432.4(MYL2):c.354-18G>A | Hypertrophic cardiomyopathy 10 [RCV002073224]|not provided [RCV001694431] | benign|likely benign | 12 | 110913162 | 110913162 | Human | 1 | name , alternate_id |
| 150436181 | CV1274565 | single nucleotide variant | NM_000432.4(MYL2):c.275-16C>G | Hypertrophic cardiomyopathy 10 [RCV003771853]|not provided [RCV001724407]|not specified [RCV001700903] | benign|likely benign | 12 | 110913340 | 110913340 | Human | 1 | name , alternate_id |
| 8688946 | CV136733 | single nucleotide variant | NM_000432.4(MYL2):c.275-58G>A | not provided [RCV000119395] | not provided | 12 | 110913382 | 110913382 | Human | | name |
| 8692134 | CV142100 | single nucleotide variant | NM_000432.4(MYL2):c.274+15G>C | not specified [RCV000127029] | benign | 12 | 110914171 | 110914171 | Human | | name |
| 8692135 | CV142101 | single nucleotide variant | NM_000432.4(MYL2):c.274+17G>C | not specified [RCV000127030] | benign | 12 | 110914169 | 110914169 | Human | | name |
| 151754506 | CV1429633 | single nucleotide variant | NM_000432.4(MYL2):c.353+16G>T | Hypertrophic cardiomyopathy 10 [RCV002007193] | likely benign | 12 | 110913230 | 110913230 | Human | 1 | name , alternate_id |
| 151865876 | CV1495211 | single nucleotide variant | NM_000432.4(MYL2):c.403-20G>A | Hypertrophic cardiomyopathy 10 [RCV001980708] | likely benign | 12 | 110911195 | 110911195 | Human | 1 | name , alternate_id |
| 152056498 | CV1523048 | single nucleotide variant | NM_000432.4(MYL2):c.354-17C>G | Hypertrophic cardiomyopathy 10 [RCV002167503] | likely benign | 12 | 110913161 | 110913161 | Human | 1 | name , alternate_id |
| 152091091 | CV1528649 | single nucleotide variant | NM_000432.4(MYL2):c.169+13C>T | Hypertrophic cardiomyopathy 10 [RCV002094188]|Hypertrophic cardiomyopathy [RCV003126171] | likely benign | 12 | 110915702 | 110915702 | Human | 3 | name , alternate_id |
| 152114430 | CV1552958 | single nucleotide variant | NM_000432.4(MYL2):c.169+18G>C | Hypertrophic cardiomyopathy 10 [RCV002197209] | likely benign | 12 | 110915697 | 110915697 | Human | 1 | name , alternate_id |
| 152046942 | CV1556332 | single nucleotide variant | NM_000432.4(MYL2):c.354-20C>G | Hypertrophic cardiomyopathy 10 [RCV002207031] | likely benign | 12 | 110913164 | 110913164 | Human | 1 | name , alternate_id |
| 152048612 | CV1585412 | single nucleotide variant | NM_000432.4(MYL2):c.353+21A>C | Hypertrophic cardiomyopathy 10 [RCV002145385] | likely benign | 12 | 110913225 | 110913225 | Human | 1 | name , alternate_id |
| 152165732 | CV1597254 | single nucleotide variant | NM_000432.4(MYL2):c.170-17T>C | Hypertrophic cardiomyopathy 10 [RCV002124078] | likely benign | 12 | 110914307 | 110914307 | Human | 1 | name , alternate_id |
| 152065557 | CV1601483 | single nucleotide variant | NM_000432.4(MYL2):c.402+10T>A | Hypertrophic cardiomyopathy 10 [RCV002168602] | likely benign | 12 | 110913086 | 110913086 | Human | 1 | name , alternate_id |
| 156065900 | CV1888792 | single nucleotide variant | NM_000432.4(MYL2):c.403-18G>A | Hypertrophic cardiomyopathy 10 [RCV003079377] | likely benign | 12 | 110911193 | 110911193 | Human | 1 | name , alternate_id |
| 156040045 | CV1890970 | single nucleotide variant | NM_000432.4(MYL2):c.353+19G>A | Hypertrophic cardiomyopathy 10 [RCV003078480] | likely benign | 12 | 110913227 | 110913227 | Human | 1 | name , alternate_id |
| 156190579 | CV1915865 | single nucleotide variant | NM_000432.4(MYL2):c.275-19G>A | Hypertrophic cardiomyopathy 10 [RCV002595358] | likely benign | 12 | 110913343 | 110913343 | Human | 1 | name , alternate_id |
| 11088602 | CV230255 | single nucleotide variant | NM_000432.4(MYL2):c.275-14G>C | Cardiomyopathy [RCV001182742]|Hypertrophic cardiomyopathy 10 [RCV002054960]|not specified [RCV000213783] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 110913338 | 110913338 | Human | 3 | name , alternate_id |
| 329955211 | CV2671152 | single nucleotide variant | NM_000432.4(MYL2):c.169+20C>T | not specified [RCV003236425] | uncertain significance | 12 | 110915695 | 110915695 | Human | | name |
| 405014409 | CV2854491 | single nucleotide variant | NM_000432.4(MYL2):c.403-16T>C | Hypertrophic cardiomyopathy 10 [RCV003515274] | likely benign | 12 | 110911191 | 110911191 | Human | 1 | name , alternate_id |
| 405024278 | CV2887359 | single nucleotide variant | NM_000432.4(MYL2):c.353+12C>T | Hypertrophic cardiomyopathy 10 [RCV003516222] | likely benign | 12 | 110913234 | 110913234 | Human | 1 | name , alternate_id |
| 405028933 | CV2896728 | single nucleotide variant | NM_000432.4(MYL2):c.275-15T>C | Hypertrophic cardiomyopathy 10 [RCV003516603] | likely benign | 12 | 110913339 | 110913339 | Human | 1 | name , alternate_id |
| 405012093 | CV2916424 | single nucleotide variant | NM_000432.4(MYL2):c.274+18T>A | Hypertrophic cardiomyopathy 10 [RCV003515060] | likely benign | 12 | 110914168 | 110914168 | Human | 1 | name , alternate_id |
| 402507532 | CV3047295 | single nucleotide variant | NM_000432.4(MYL2):c.402+20A>C | Hypertrophic cardiomyopathy 10 [RCV003628968] | likely benign | 12 | 110913076 | 110913076 | Human | 1 | name , alternate_id |
| 402507391 | CV3054006 | single nucleotide variant | NM_000432.4(MYL2):c.170-20G>A | Hypertrophic cardiomyopathy 10 [RCV003628953] | likely benign | 12 | 110914310 | 110914310 | Human | 1 | name , alternate_id |
| 405204415 | CV3116943 | single nucleotide variant | NM_000432.4(MYL2):c.274+20T>C | Hypertrophic cardiomyopathy 10 [RCV003822427] | likely benign | 12 | 110914166 | 110914166 | Human | 1 | name , alternate_id |
| 405116227 | CV3134285 | single nucleotide variant | NM_000432.4(MYL2):c.275-18C>T | Hypertrophic cardiomyopathy 10 [RCV003836887] | likely benign | 12 | 110913342 | 110913342 | Human | 1 | name , alternate_id |
| 11607037 | CV316035 | single nucleotide variant | NM_000432.4(MYL2):c.275-12G>A | Cardiomyopathy [RCV001181529]|Hypertrophic cardiomyopathy 10 [RCV000338600]|Hypertrophic cardiomyopathy [RCV003995835]|not specified [RCV000427131] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 110913336 | 110913336 | Human | 5 | name , alternate_id |
| 402467984 | CV3174225 | single nucleotide variant | NM_000432.4(MYL2):c.274+13G>A | Hypertrophic cardiomyopathy 10 [RCV003873508] | likely benign | 12 | 110914173 | 110914173 | Human | 1 | name , alternate_id |
| 405703801 | CV3233566 | single nucleotide variant | NM_000432.4(MYL2):c.275-14G>A | Hypertrophic cardiomyopathy [RCV004010023] | uncertain significance | 12 | 110913338 | 110913338 | Human | 2 | name |
| 597845176 | CV3761527 | single nucleotide variant | NM_000432.4(MYL2):c.169+19C>T | Hypertrophic cardiomyopathy 10 [RCV005087127] | likely benign | 12 | 110915696 | 110915696 | Human | 1 | name , alternate_id |
| 597955202 | CV3796151 | single nucleotide variant | NM_000432.4(MYL2):c.275-14G>T | Hypertrophic cardiomyopathy 10 [RCV005136968] | likely benign | 12 | 110913338 | 110913338 | Human | 1 | name , alternate_id |
| 597956862 | CV3800320 | single nucleotide variant | NM_000432.4(MYL2):c.353+14G>C | Hypertrophic cardiomyopathy 10 [RCV005137412] | likely benign | 12 | 110913232 | 110913232 | Human | 1 | name , alternate_id |
| 597890072 | CV3856060 | single nucleotide variant | NM_000432.4(MYL2):c.403-17T>C | Hypertrophic cardiomyopathy 10 [RCV005200305] | likely benign | 12 | 110911192 | 110911192 | Human | 1 | name , alternate_id |
| 8602578 | CV40432 | deletion | NM_000432.4(MYL2):c.353+20del | Congestive heart failure [RCV003125837]|Hypertrophic cardiomyopathy 10 [RCV000610862]|Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy [RCV001778662]|not provided [RCV000024463]|not specified [RCV000222305] | benign|not provided | 12 | 110913226 | 110913226 | Human | 4 | name , alternate_id |
| 8602580 | CV40434 | single nucleotide variant | NM_000432.4(MYL2):c.353+51C>T | not provided [RCV000024465] | benign|not provided | 12 | 110913195 | 110913195 | Human | | name |
| 8602581 | CV40435 | duplication | NM_000432.4(MYL2):c.353+46dup | Primary familial hypertrophic cardiomyopathy [RCV000030323]|not provided [RCV000024466]|not specified [RCV000248026] | benign|uncertain significance|not provided | 12 | 110913199 | 110913200 | Human | 1 | name |
| 8602988 | CV45305 | single nucleotide variant | NM_000432.4(MYL2):c.170-19T>C | Cardiomyopathy [RCV000852686]|Hypertrophic cardiomyopathy 10 [RCV000612374]|Hypertrophic cardiomyopathy [RCV003125845]|not provided [RCV001650850]|not specified [RCV000030321] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 110914309 | 110914309 | Human | 5 | name , alternate_id |
| 8602989 | CV45306 | single nucleotide variant | NM_000432.4(MYL2):c.353+33C>G | Primary familial hypertrophic cardiomyopathy [RCV000030322] | likely benign | 12 | 110913213 | 110913213 | Human | 1 | name |
| 13537034 | CV503540 | single nucleotide variant | NM_000432.4(MYL2):c.402+17A>G | Hypertrophic cardiomyopathy 10 [RCV001860264]|not specified [RCV000609833] | likely benign|uncertain significance | 12 | 110913079 | 110913079 | Human | 1 | name , alternate_id |
| 13533680 | CV508870 | single nucleotide variant | NM_000432.4(MYL2):c.353+16G>A | Hypertrophic cardiomyopathy 10 [RCV000600454]|not specified [RCV001701062] | benign|likely benign|conflicting interpretations of pathogenicity | 12 | 110913230 | 110913230 | Human | 1 | name , alternate_id |
| 8606293 | CV52640 | single nucleotide variant | NM_000432.4(MYL2):c.353+12C>A | Hypertrophic cardiomyopathy 10 [RCV001109259]|not provided [RCV001636620]|not specified [RCV000036396] | benign|likely benign | 12 | 110913234 | 110913234 | Human | 1 | name , alternate_id |
| 14718791 | CV665399 | single nucleotide variant | NM_000432.4(MYL2):c.353+51C>A | not provided [RCV000830505]|not specified [RCV001724167] | benign|likely benign | 12 | 110913195 | 110913195 | Human | | name |
| 14718789 | CV665401 | single nucleotide variant | NM_000432.4(MYL2):c.275-76A>C | not provided [RCV000830504] | likely benign | 12 | 110913400 | 110913400 | Human | | name |
| 14718794 | CV666500 | single nucleotide variant | NM_000432.4(MYL2):c.402+93C>T | not provided [RCV000830506] | likely benign | 12 | 110913003 | 110913003 | Human | | name |
| 14724107 | CV666508 | deletion | NM_000432.4(MYL2):c.353+47del | not provided [RCV000832838] | benign | 12 | 110913199 | 110913199 | Human | | name |
| 14726750 | CV666514 | single nucleotide variant | NM_000432.4(MYL2):c.170-54T>C | not provided [RCV000834005] | benign | 12 | 110914344 | 110914344 | Human | | name |
| 34901794 | CV915788 | single nucleotide variant | NM_000432.4(MYL2):c.403-11G>A | Cardiomyopathy [RCV001192263]|Hypertrophic cardiomyopathy 10 [RCV002560149] | likely benign | 12 | 110911186 | 110911186 | Human | 3 | name , alternate_id |
| 34892412 | CV916166 | single nucleotide variant | NM_000432.4(MYL2):c.170-14G>C | Cardiomyopathy [RCV001183080]|Hypertrophic cardiomyopathy 10 [RCV002559818] | likely benign | 12 | 110914304 | 110914304 | Human | 3 | name , alternate_id |
| 34896771 | CV916445 | single nucleotide variant | NM_000432.4(MYL2):c.403-15G>C | Cardiomyopathy [RCV001178625]|Hypertrophic cardiomyopathy 10 [RCV002067891] | likely benign | 12 | 110911190 | 110911190 | Human | 3 | name , alternate_id |
| 150478103 | CV1218731 | single nucleotide variant | NM_000432.4(MYL2):c.170-160C>G | not provided [RCV001616358] | benign | 12 | 110914450 | 110914450 | Human | | name |
| 150443270 | CV1249257 | single nucleotide variant | NM_000432.4(MYL2):c.402+245T>C | not provided [RCV001666689] | benign | 12 | 110912851 | 110912851 | Human | 4 | name |
| 150451460 | CV1254830 | single nucleotide variant | NM_000432.4(MYL2):c.402+129G>A | not provided [RCV001667889] | benign | 12 | 110912967 | 110912967 | Human | | name |
| 150482634 | CV1261651 | deletion | NM_000432.4(MYL2):c.169+198del | not provided [RCV001686254] | benign | 12 | 110915517 | 110915517 | Human | | name |
| 150447582 | CV1261839 | single nucleotide variant | NM_000432.4(MYL2):c.403-244T>C | not provided [RCV001680223] | benign | 12 | 110911419 | 110911419 | Human | 4 | name |
| 150495143 | CV1266178 | microsatellite | NM_000432.4(MYL2):c.274+9GT[8] | Cardiomyopathy [RCV003150452]|not provided [RCV001688500] | benign | 12 | 110914160 | 110914161 | Human | | name |
| 329358038 | CV2422332 | deletion | NM_000432.4(MYL2):c.83_93+1del | Cardiovascular phenotype [RCV003165119] | uncertain significance | 12 | 110919103 | 110919114 | Human | | name |
| 405048540 | CV3017473 | microsatellite | NM_000432.4(MYL2):c.274+9GT[4] | Hypertrophic cardiomyopathy 10 [RCV003630974] | likely benign | 12 | 110914160 | 110914169 | Human | | name , alternate_id |
| 597860339 | CV3860028 | deletion | NM_000432.4(MYL2):c.3+3_3+6del | Hypertrophic cardiomyopathy 10 [RCV005195757] | uncertain significance | 12 | 110920521 | 110920524 | Human | 1 | name , alternate_id |
| 14688587 | CV615218 | microsatellite | NM_000432.4(MYL2):c.92_93+1del | Cardiomyopathy [RCV000769369]|Cardiovascular phenotype [RCV004027221]|not provided [RCV001775985] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 12 | 110919103 | 110919105 | Human | | name |
| 14728536 | CV666054 | single nucleotide variant | NM_000432.4(MYL2):c.170-153A>G | not provided [RCV000834819] | likely benign | 12 | 110914443 | 110914443 | Human | | name |
| 14746180 | CV666257 | single nucleotide variant | NM_000432.4(MYL2):c.274+339C>T | not provided [RCV000844166] | likely benign | 12 | 110913847 | 110913847 | Human | | name |
| 34892433 | CV911921 | deletion | NM_000432.4(MYL2):c.-16_-13del | Cardiomyopathy [RCV001183093] | uncertain significance | 12 | 110920542 | 110920545 | Human | 2 | name |
| 151233120 | CV1320107 | microsatellite | NM_000432.4(MYL2):c.274+9GT[11] | Cardiomyopathy [RCV001799464] | benign | 12 | 110914159 | 110914160 | Human | | name |
| 13536947 | CV504130 | microsatellite | NM_000432.4(MYL2):c.170-20GT[3] | Cardiomyopathy [RCV001181554]|Hypertrophic cardiomyopathy 10 [RCV002063976]|not provided [RCV001697966] | likely benign | 12 | 110914303 | 110914304 | Human | | name , alternate_id |
| 8606285 | CV52632 | microsatellite | NM_000432.4(MYL2):c.274+9GT[10] | Cardiomyopathy [RCV001798101]|not provided [RCV001594821]|not specified [RCV000036388] | benign|likely benign | 12 | 110914159 | 110914160 | Human | | name |
| 156410651 | CV1882661 | deletion | NM_000432.4(MYL2):c.166_169+13del | Hypertrophic cardiomyopathy 10 [RCV003072158] | uncertain significance | 12 | 110915702 | 110915718 | Human | 1 | name , alternate_id |
| 152099737 | CV1606605 | indel | NM_000432.4(MYL2):c.4-6_4-5delinsTT | Hypertrophic cardiomyopathy 10 [RCV002195394] | likely benign | 12 | 110919198 | 110919199 | Human | | name , alternate_id |
| 156351176 | CV1997658 | single nucleotide variant | NM_000432.4(MYL2):c.18A>G (p.Ala6=) | Cardiovascular phenotype [RCV003167580]|Hypertrophic cardiomyopathy 10 [RCV002675605] | likely benign | 12 | 110919179 | 110919179 | Human | 1 | name , alternate_id |
| 12907199 | CV415321 | deletion | NM_000432.4(MYL2):c.6del (p.Pro3fs) | Hypertrophic cardiomyopathy 10 [RCV000798438]|not provided [RCV000490156] | uncertain significance | 12 | 110919191 | 110919191 | Human | 1 | name , alternate_id |
| 127258885 | CV1100851 | single nucleotide variant | NM_000432.4(MYL2):c.72C>G (p.Thr24=) | Cardiovascular phenotype [RCV003160754]|Hypertrophic cardiomyopathy 10 [RCV001438252] | likely benign | 12 | 110919125 | 110919125 | Human | 1 | name , alternate_id |
| 127281153 | CV1100852 | single nucleotide variant | NM_000432.4(MYL2):c.48C>T (p.Asn16=) | Cardiomyopathy [RCV001806183]|Cardiovascular phenotype [RCV002341987]|Hypertrophic cardiomyopathy 10 [RCV001446924]|Hypertrophic cardiomyopathy [RCV004007042] | likely benign | 12 | 110919149 | 110919149 | Human | 5 | name , alternate_id |
| 150487885 | CV1283909 | deletion | NM_000432.4(MYL2):c.93+183_93+186del | not provided [RCV001716020] | benign | 12 | 110918918 | 110918921 | Human | | name |
| 152026394 | CV1582828 | single nucleotide variant | NM_000432.4(MYL2):c.30C>A (p.Ala10=) | Hypertrophic cardiomyopathy 10 [RCV002084783] | likely benign | 12 | 110919167 | 110919167 | Human | 1 | name , alternate_id |
| 152106150 | CV1612729 | single nucleotide variant | NM_000432.4(MYL2):c.99C>T (p.Phe33=) | Hypertrophic cardiomyopathy 10 [RCV002173743] | likely benign | 12 | 110915785 | 110915785 | Human | 1 | name , alternate_id |
| 155716072 | CV1785085 | single nucleotide variant | NM_000432.4(MYL2):c.30C>G (p.Ala10=) | Cardiovascular phenotype [RCV002325945]|Hypertrophic cardiomyopathy 10 [RCV003514554] | likely benign | 12 | 110919167 | 110919167 | Human | 1 | name , alternate_id |
| 155665755 | CV1813900 | single nucleotide variant | NM_000432.4(MYL2):c.7C>T (p.Pro3Ser) | Cardiovascular phenotype [RCV002419166]|Hypertrophic cardiomyopathy 10 [RCV003776469]|Hypertrophic cardiomyopathy [RCV004808295] | uncertain significance | 12 | 110919190 | 110919190 | Human | 3 | name , alternate_id |
| 11345094 | CV236789 | single nucleotide variant | NM_000432.4(MYL2):c.1A>G (p.Met1Val) | Cardiomyopathy [RCV005401385]|not specified [RCV000223736] | uncertain significance | 12 | 110920529 | 110920529 | Human | 2 | name |
| 11351991 | CV241239 | single nucleotide variant | NM_000432.4(MYL2):c.42C>T (p.Asn14=) | Cardiomyopathy [RCV001189726]|Cardiovascular phenotype [RCV002327108]|Hypertrophic cardiomyopathy 10 [RCV001455463]|Hypertrophic cardiomyopathy [RCV003998783] | likely benign | 12 | 110919155 | 110919155 | Human | 5 | name , alternate_id |
| 405729721 | CV3231118 | single nucleotide variant | NM_000432.4(MYL2):c.36C>A (p.Gly12=) | Hypertrophic cardiomyopathy [RCV004013699] | likely benign | 12 | 110919161 | 110919161 | Human | 2 | name |
| 12896192 | CV390072 | single nucleotide variant | NM_000432.4(MYL2):c.4G>A (p.Ala2Thr) | Cardiovascular phenotype [RCV000618317]|Hypertrophic cardiomyopathy 10 [RCV000692892]|Hypertrophic cardiomyopathy [RCV004000604]|not specified [RCV000455015] | uncertain significance | 12 | 110919193 | 110919193 | Human | 3 | name , alternate_id |
| 12881328 | CV398830 | insertion | NM_000432.4(MYL2):c.274+8_274+9insAT | Hypertrophic cardiomyopathy 10 [RCV000457636] | uncertain significance | 12 | 110914177 | 110914178 | Human | 1 | name , alternate_id |
| 13445967 | CV438508 | single nucleotide variant | NM_000432.4(MYL2):c.3G>A (p.Met1Ile) | Familial isolated restrictive cardiomyopathy [RCV000513098]|Hypertrophic cardiomyopathy 10 [RCV000639673] | likely pathogenic|uncertain significance | 12 | 110920527 | 110920527 | Human | 1 | name , alternate_id |
| 8606291 | CV52638 | single nucleotide variant | NM_000432.4(MYL2):c.33G>A (p.Gly11=) | Cardiomyopathy [RCV000771886]|Cardiovascular phenotype [RCV002453303]|Hypertrophic cardiomyopathy 10 [RCV000457856]|Hypertrophic cardiomyopathy [RCV003996224]|not specified [RCV000036394] | benign|likely benign|conflicting interpretations of pathogenicity | 12 | 110919164 | 110919164 | Human | 5 | name , alternate_id |
| 8606295 | CV52642 | single nucleotide variant | NM_000432.4(MYL2):c.36C>T (p.Gly12=) | Cardiomyopathy [RCV001178576]|Cardiovascular phenotype [RCV000622196]|Hypertrophic cardiomyopathy 10 [RCV000457321]|not provided [RCV001719731]|not specified [RCV000036399] | benign|likely benign | 12 | 110919161 | 110919161 | Human | 3 | name , alternate_id |
| 14688591 | CV615039 | single nucleotide variant | NM_000432.4(MYL2):c.63C>T (p.Phe21=) | Cardiomyopathy [RCV000769371]|Cardiovascular phenotype [RCV003166031]|Hypertrophic cardiomyopathy 10 [RCV000920247]|Hypertrophic cardiomyopathy [RCV003999924]|not specified [RCV005240547] | likely benign|uncertain significance | 12 | 110919134 | 110919134 | Human | 5 | name , alternate_id |
| 14692810 | CV617891 | single nucleotide variant | NM_000432.4(MYL2):c.78C>T (p.Ile26=) | Cardiomyopathy [RCV000774468]|Hypertrophic cardiomyopathy 10 [RCV002067298] | likely benign | 12 | 110919119 | 110919119 | Human | 3 | name , alternate_id |
| 15123656 | CV684286 | single nucleotide variant | NM_000432.4(MYL2):c.30C>T (p.Ala10=) | Cardiomyopathy [RCV003532289]|Hypertrophic cardiomyopathy 10 [RCV001452370]|Hypertrophic cardiomyopathy [RCV004002916]|not provided [RCV000862280] | likely benign | 12 | 110919167 | 110919167 | Human | 5 | name , alternate_id |
| 34901313 | CV911918 | single nucleotide variant | NM_000432.4(MYL2):c.4G>T (p.Ala2Ser) | Cardiomyopathy [RCV001191495]|Hypertrophic cardiomyopathy 10 [RCV001363795] | likely benign|uncertain significance | 12 | 110919193 | 110919193 | Human | 3 | name , alternate_id |
| 127243706 | CV1079111 | single nucleotide variant | NM_000432.4(MYL2):c.285T>G (p.Pro95=) | Hypertrophic cardiomyopathy 10 [RCV001398444] | likely benign | 12 | 110913314 | 110913314 | Human | 1 | name , alternate_id |
| 127291871 | CV1122308 | single nucleotide variant | NM_000432.4(MYL2):c.120G>A (p.Arg40=) | Hypertrophic cardiomyopathy 10 [RCV001476188] | likely benign | 12 | 110915764 | 110915764 | Human | 1 | name , alternate_id |
| 127336213 | CV1143169 | single nucleotide variant | NM_000432.4(MYL2):c.264G>A (p.Glu88=) | Hypertrophic cardiomyopathy 10 [RCV001492018] | likely benign | 12 | 110914196 | 110914196 | Human | 1 | name , alternate_id |
| 127324691 | CV1143170 | single nucleotide variant | NM_000432.4(MYL2):c.249C>T (p.Leu83=) | Cardiovascular phenotype [RCV005385113]|Hypertrophic cardiomyopathy 10 [RCV001505720] | likely benign | 12 | 110914211 | 110914211 | Human | 1 | name , alternate_id |
| 127323135 | CV1160938 | deletion | NM_000432.4(MYL2):c.49del (p.Val17fs) | Cardiomyopathy [RCV001523866] | uncertain significance | 12 | 110919148 | 110919148 | Human | 2 | name |
| 151233114 | CV1320105 | single nucleotide variant | NM_000432.4(MYL2):c.111C>T (p.Asp37=) | Cardiomyopathy [RCV001799462] | likely benign | 12 | 110915773 | 110915773 | Human | 2 | name |
| 151811253 | CV1345281 | single nucleotide variant | NM_000432.4(MYL2):c.26G>A (p.Arg9Lys) | Hypertrophic cardiomyopathy 10 [RCV001878291] | uncertain significance | 12 | 110919171 | 110919171 | Human | 1 | name , alternate_id |
| 8688945 | CV136732 | single nucleotide variant | NM_000432.4(MYL2):c.135C>T (p.Asp45=) | Cardiomyopathy [RCV001187168]|Hypertrophic cardiomyopathy 10 [RCV003764830]|Hypertrophic cardiomyopathy [RCV003997310]|not provided [RCV000119394] | likely benign|not provided | 12 | 110915749 | 110915749 | Human | 5 | name , alternate_id |
| 8692136 | CV142102 | single nucleotide variant | NM_000432.4(MYL2):c.279G>A (p.Ala93=) | Cardiomyopathy [RCV000770395]|Cardiovascular phenotype [RCV000253500]|Hypertrophic cardiomyopathy 10 [RCV000471087]|not specified [RCV000151361] | benign|likely benign|conflicting interpretations of pathogenicity | 12 | 110913320 | 110913320 | Human | 3 | name , alternate_id |
| 152078734 | CV1564904 | single nucleotide variant | NM_000432.4(MYL2):c.183G>A (p.Val61=) | Cardiovascular phenotype [RCV004982887]|Hypertrophic cardiomyopathy 10 [RCV002192759] | likely benign | 12 | 110914277 | 110914277 | Human | 1 | name , alternate_id |
| 152051922 | CV1607150 | single nucleotide variant | NM_000432.4(MYL2):c.138G>A (p.Lys46=) | Cardiovascular phenotype [RCV003307997]|Hypertrophic cardiomyopathy 10 [RCV002109078]|Hypertrophic cardiomyopathy [RCV004005445] | likely benign | 12 | 110915746 | 110915746 | Human | 3 | name , alternate_id |
| 9691987 | CV175535 | single nucleotide variant | NM_000432.4(MYL2):c.237T>C (p.Phe79=) | not provided [RCV004703427]|not specified [RCV000151364] | likely benign | 12 | 110914223 | 110914223 | Human | | name |
| 9833324 | CV179439 | single nucleotide variant | NM_000432.4(MYL2):c.14A>G (p.Lys5Arg) | Hypertrophic cardiomyopathy 10 [RCV000816711]|Hypertrophic cardiomyopathy [RCV003998367]|not provided [RCV000158909] | uncertain significance | 12 | 110919183 | 110919183 | Human | 3 | name , alternate_id |
| 155738001 | CV1831846 | single nucleotide variant | NM_000432.4(MYL2):c.180C>T (p.Asn60=) | Cardiovascular phenotype [RCV002410143] | likely benign | 12 | 110914280 | 110914280 | Human | | name |
| 155950159 | CV2076323 | deletion | NM_000432.4(MYL2):c.50del (p.Val17fs) | Hypertrophic cardiomyopathy 10 [RCV002862305] | uncertain significance | 12 | 110919147 | 110919147 | Human | 1 | name , alternate_id |
| 329355091 | CV2433865 | single nucleotide variant | NM_000432.4(MYL2):c.144T>C (p.Asp48=) | Cardiovascular phenotype [RCV003177657] | likely benign | 12 | 110915740 | 110915740 | Human | | name |
| 11546978 | CV258713 | single nucleotide variant | NM_000432.4(MYL2):c.23A>G (p.Lys8Arg) | Cardiovascular phenotype [RCV000247161]|Hypertrophic cardiomyopathy [RCV003995732] | uncertain significance | 12 | 110919174 | 110919174 | Human | 2 | name |
| 405065139 | CV2934713 | single nucleotide variant | NM_000432.4(MYL2):c.11A>G (p.Lys4Arg) | Cardiomyopathy [RCV003532743] | uncertain significance | 12 | 110919186 | 110919186 | Human | 2 | name |
| 405045359 | CV2997197 | single nucleotide variant | NM_000432.4(MYL2):c.123T>C (p.Asp41=) | Hypertrophic cardiomyopathy 10 [RCV003630757] | likely benign | 12 | 110915761 | 110915761 | Human | 1 | name , alternate_id |
| 405223317 | CV3151139 | single nucleotide variant | NM_000432.4(MYL2):c.222G>T (p.Pro74=) | Hypertrophic cardiomyopathy 10 [RCV003847564]|Hypertrophic cardiomyopathy [RCV004006124] | likely benign | 12 | 110914238 | 110914238 | Human | 3 | name , alternate_id |
| 405716647 | CV3230793 | single nucleotide variant | NM_000432.4(MYL2):c.261G>A (p.Gly87=) | Hypertrophic cardiomyopathy [RCV004012382] | likely benign | 12 | 110914199 | 110914199 | Human | 2 | name |
| 405757710 | CV3233127 | single nucleotide variant | NM_000432.4(MYL2):c.240T>A (p.Thr80=) | Hypertrophic cardiomyopathy [RCV004017080] | uncertain significance | 12 | 110914220 | 110914220 | Human | 2 | name |
| 405753313 | CV3234495 | single nucleotide variant | NM_000432.4(MYL2):c.276A>G (p.Gly92=) | Hypertrophic cardiomyopathy [RCV004016545] | likely benign | 12 | 110913323 | 110913323 | Human | 2 | name |
| 596943116 | CV3546507 | single nucleotide variant | NM_000432.4(MYL2):c.198T>C (p.Ile66=) | Hypertrophic cardiomyopathy [RCV004807631] | likely benign | 12 | 110914262 | 110914262 | Human | 2 | name |
| 597697626 | CV3564866 | single nucleotide variant | NM_000432.4(MYL2):c.126C>T (p.Gly42=) | Cardiovascular phenotype [RCV004987404] | likely benign | 12 | 110915758 | 110915758 | Human | | name |
| 12847430 | CV372551 | single nucleotide variant | NM_000432.4(MYL2):c.222G>A (p.Pro74=) | Cardiomyopathy [RCV001191580]|Cardiovascular phenotype [RCV002429358]|Hypertrophic cardiomyopathy 10 [RCV000607532]|Hypertrophic cardiomyopathy [RCV003995972]|not provided [RCV000443467]|not specified [RCV001700368] | benign|likely benign | 12 | 110914238 | 110914238 | Human | 5 | name , alternate_id |
| 597939602 | CV3788484 | single nucleotide variant | NM_000432.4(MYL2):c.267A>G (p.Lys89=) | Hypertrophic cardiomyopathy 10 [RCV005133159] | likely benign | 12 | 110914193 | 110914193 | Human | 1 | name , alternate_id |
| 12886120 | CV398438 | single nucleotide variant | NM_000432.4(MYL2):c.147G>A (p.Leu49=) | Cardiomyopathy [RCV001177368]|Hypertrophic cardiomyopathy 10 [RCV001416131] | likely benign | 12 | 110915737 | 110915737 | Human | 3 | name , alternate_id |
| 616934082 | CV4012060 | single nucleotide variant | NM_000432.4(MYL2):c.13A>G (p.Lys5Glu) | not specified [RCV005408611] | uncertain significance | 12 | 110919184 | 110919184 | Human | | name |
| 8602577 | CV40431 | single nucleotide variant | NM_000432.4(MYL2):c.132T>C (p.Ile44=) | Cardiomyopathy [RCV000776005]|Cardiovascular phenotype [RCV000251488]|Congestive heart failure [RCV003125836]|Hypertrophic cardiomyopathy 10 [RCV000599777]|not provided [RCV000024462]|not specified [RCV000036380] | benign|likely benign|not provided | 12 | 110915752 | 110915752 | Human | 5 | name , alternate_id |
| 13478994 | CV461609 | single nucleotide variant | NM_000432.4(MYL2):c.216G>A (p.Glu72=) | Cardiomyopathy [RCV001182236]|Cardiovascular phenotype [RCV002420421]|Hypertrophic cardiomyopathy 10 [RCV000527877]|Hypertrophic cardiomyopathy [RCV004806423] | likely benign | 12 | 110914244 | 110914244 | Human | 5 | name , alternate_id |
| 13539061 | CV504129 | single nucleotide variant | NM_000432.4(MYL2):c.294C>T (p.Thr98=) | not specified [RCV000612751] | likely benign | 12 | 110913305 | 110913305 | Human | | name |
| 13527955 | CV510342 | single nucleotide variant | NM_000432.4(MYL2):c.20A>G (p.Lys7Arg) | Cardiovascular phenotype [RCV000620385] | uncertain significance | 12 | 110919177 | 110919177 | Human | | name |
| 8606280 | CV52627 | single nucleotide variant | NM_000432.4(MYL2):c.141C>T (p.Asn47=) | Cardiomyopathy [RCV003531921]|Cardiovascular phenotype [RCV002390143]|Hypertrophic cardiomyopathy 10 [RCV000538837]|Hypertrophic cardiomyopathy [RCV003996219]|not specified [RCV000036382] | likely benign | 12 | 110915743 | 110915743 | Human | 5 | name , alternate_id |
| 8606283 | CV52630 | single nucleotide variant | NM_000432.4(MYL2):c.243G>T (p.Val81=) | Cardiomyopathy [RCV000769366]|Cardiovascular phenotype [RCV000619440]|Hypertrophic cardiomyopathy 10 [RCV000552836]|Hypertrophic cardiomyopathy [RCV003996221]|MYL2-related disorder [RCV004541092]|not provided [RCV001642555]|not specified [RCV000036386] | benign|likely benign | 12 | 110914217 | 110914217 | Human | 5 | name , trait , alternate_id |
| 14692580 | CV617890 | single nucleotide variant | NM_000432.4(MYL2):c.156C>A (p.Thr52=) | Cardiomyopathy [RCV000774111]|Cardiovascular phenotype [RCV002397541]|Hypertrophic cardiomyopathy 10 [RCV000867120]|Hypertrophic cardiomyopathy [RCV004001352] | likely benign | 12 | 110915728 | 110915728 | Human | 5 | name , alternate_id |
| 15150120 | CV687879 | single nucleotide variant | NM_000432.4(MYL2):c.172C>A (p.Arg58=) | Cardiomyopathy [RCV001183865]|Cardiovascular phenotype [RCV004027684]|Hypertrophic cardiomyopathy 10 [RCV000866987]|Hypertrophic cardiomyopathy [RCV004002990] | likely benign | 12 | 110914288 | 110914288 | Human | 5 | name , alternate_id |
| 34897812 | CV911911 | single nucleotide variant | NM_000432.4(MYL2):c.174A>G (p.Arg58=) | Cardiomyopathy [RCV001179480]|Hypertrophic cardiomyopathy 10 [RCV002068244] | likely benign | 12 | 110914286 | 110914286 | Human | 3 | name , alternate_id |
| 42722783 | CV985291 | deletion | NM_000432.4(MYL2):c.47del (p.Asn16fs) | Cardiovascular phenotype [RCV002334751]|Hypertrophic cardiomyopathy 10 [RCV005208963] | pathogenic|uncertain significance | 12 | 110919150 | 110919150 | Human | 1 | name , alternate_id |
| 126752974 | CV1010124 | single nucleotide variant | NM_000432.4(MYL2):c.47A>G (p.Asn16Ser) | Cardiovascular phenotype [RCV004651570]|Hypertrophic cardiomyopathy 10 [RCV001316404]|not provided [RCV001760386] | uncertain significance | 12 | 110919150 | 110919150 | Human | 1 | name , alternate_id |
| 126772728 | CV1030662 | deletion | NM_000432.4(MYL2):c.240del (p.Val81fs) | Hypertrophic cardiomyopathy 10 [RCV001345783] | uncertain significance | 12 | 110914220 | 110914220 | Human | 1 | name , alternate_id |
| 127279814 | CV1100848 | single nucleotide variant | NM_000432.4(MYL2):c.369G>A (p.Leu123=) | Hypertrophic cardiomyopathy 10 [RCV001446006] | likely benign | 12 | 110913129 | 110913129 | Human | 1 | name , alternate_id |
| 127233321 | CV1100850 | single nucleotide variant | NM_000432.4(MYL2):c.300C>T (p.Leu100=) | Hypertrophic cardiomyopathy 10 [RCV001421724] | likely benign | 12 | 110913299 | 110913299 | Human | 1 | name , alternate_id |
| 127328579 | CV1122307 | single nucleotide variant | NM_000432.4(MYL2):c.375G>C (p.Thr125=) | Cardiovascular phenotype [RCV002350957]|Hypertrophic cardiomyopathy 10 [RCV001469613] | likely benign | 12 | 110913123 | 110913123 | Human | 1 | name , alternate_id |
| 127325204 | CV1160933 | single nucleotide variant | NM_000432.4(MYL2):c.463C>T (p.Leu155=) | Cardiomyopathy [RCV001525187]|Cardiovascular phenotype [RCV002334574]|Hypertrophic cardiomyopathy [RCV004008823] | likely benign | 12 | 110911115 | 110911115 | Human | 4 | name |
| 127325160 | CV1160934 | single nucleotide variant | NM_000432.4(MYL2):c.426C>T (p.Phe142=) | Cardiomyopathy [RCV001525165]|Cardiovascular phenotype [RCV002329654] | likely benign | 12 | 110911152 | 110911152 | Human | 2 | name |
| 127326782 | CV1160936 | single nucleotide variant | NM_000432.4(MYL2):c.408C>T (p.Asp136=) | Cardiomyopathy [RCV001526216]|Cardiovascular phenotype [RCV002324126]|Hypertrophic cardiomyopathy 10 [RCV002070335]|Hypertrophic cardiomyopathy [RCV004008899] | likely benign | 12 | 110911170 | 110911170 | Human | 5 | name , alternate_id |
| 127323447 | CV1160939 | single nucleotide variant | NM_000432.4(MYL2):c.35G>T (p.Gly12Val) | Cardiomyopathy [RCV001524052]|Hypertrophic cardiomyopathy [RCV004007251] | uncertain significance | 12 | 110919162 | 110919162 | Human | 4 | name |
| 150334765 | CV1166033 | single nucleotide variant | NM_000432.4(MYL2):c.372C>T (p.Thr124=) | Cardiovascular phenotype [RCV004988677]|not provided [RCV001531171] | likely benign | 12 | 110913126 | 110913126 | Human | | name |
| 150471877 | CV1281093 | insertion | NM_000432.4(MYL2):c.274+25_274+26insGT | not provided [RCV001713275] | benign | 12 | 110914160 | 110914161 | Human | | name |
| 150533342 | CV1311126 | deletion | NM_000432.4(MYL2):c.217del (p.Ala73fs) | not provided [RCV001776861] | uncertain significance | 12 | 110914243 | 110914243 | Human | | name |
| 151351067 | CV1323322 | single nucleotide variant | NM_000432.4(MYL2):c.393C>G (p.Ser131=) | Cardiomyopathy [RCV001805650] | likely benign | 12 | 110913105 | 110913105 | Human | 2 | name |
| 151663041 | CV1330901 | deletion | NM_000432.4(MYL2):c.141del (p.Asn47fs) | Primary familial hypertrophic cardiomyopathy [RCV001825079] | likely pathogenic | 12 | 110915743 | 110915743 | Human | 1 | name |
| 8688939 | CV136726 | single nucleotide variant | NM_000432.4(MYL2):c.58A>C (p.Met20Leu) | not provided [RCV000119381] | not provided | 12 | 110919139 | 110919139 | Human | | name |
| 151845269 | CV1381623 | single nucleotide variant | NM_000432.4(MYL2):c.50T>C (p.Val17Ala) | Cardiovascular phenotype [RCV003348575]|Hypertrophic cardiomyopathy 10 [RCV001881856]|Hypertrophic cardiomyopathy 10 [RCV002478254] | uncertain significance | 12 | 110919147 | 110919147 | Human | 2 | name , alternate_id |
| 151755420 | CV1387797 | single nucleotide variant | NM_000432.4(MYL2):c.28G>C (p.Ala10Pro) | Hypertrophic cardiomyopathy 10 [RCV001969620] | uncertain significance | 12 | 110919169 | 110919169 | Human | 1 | name , alternate_id |
| 151736791 | CV1429311 | single nucleotide variant | NM_000432.4(MYL2):c.71C>T (p.Thr24Ile) | Hypertrophic cardiomyopathy 10 [RCV002021901] | uncertain significance | 12 | 110919126 | 110919126 | Human | 1 | name , alternate_id |
| 151863032 | CV1474412 | single nucleotide variant | NM_000432.4(MYL2):c.486A>C (p.Gly162=) | Cardiovascular phenotype [RCV002334811]|Hypertrophic cardiomyopathy 10 [RCV001884180] | likely benign | 12 | 110911092 | 110911092 | Human | 1 | name , alternate_id |
| 151828650 | CV1479993 | single nucleotide variant | NM_000432.4(MYL2):c.92A>G (p.Glu31Gly) | Hypertrophic cardiomyopathy 10 [RCV001901581]|Hypertrophic cardiomyopathy [RCV004808154] | uncertain significance | 12 | 110919105 | 110919105 | Human | 3 | name , alternate_id |
| 151772980 | CV1504832 | single nucleotide variant | NM_000432.4(MYL2):c.46A>G (p.Asn16Asp) | Hypertrophic cardiomyopathy 10 [RCV001988420]|not provided [RCV004697179] | uncertain significance | 12 | 110919151 | 110919151 | Human | 1 | name , alternate_id |
| 151807919 | CV1505524 | single nucleotide variant | NM_000432.4(MYL2):c.35G>A (p.Gly12Asp) | Hypertrophic cardiomyopathy 10 [RCV002048578] | uncertain significance | 12 | 110919162 | 110919162 | Human | 1 | name , alternate_id |
| 152081595 | CV1546783 | single nucleotide variant | NM_000432.4(MYL2):c.367C>T (p.Leu123=) | Hypertrophic cardiomyopathy 10 [RCV002130885] | likely benign | 12 | 110913131 | 110913131 | Human | 1 | name , alternate_id |
| 152061312 | CV1618448 | single nucleotide variant | NM_000432.4(MYL2):c.501G>A (p.Ter167=) | Hypertrophic cardiomyopathy 10 [RCV002090285] | likely benign | 12 | 110911077 | 110911077 | Human | 1 | name , alternate_id |
| 9690810 | CV175386 | single nucleotide variant | NM_000432.4(MYL2):c.480C>T (p.Thr160=) | Cardiomyopathy [RCV001190194]|Hypertrophic cardiomyopathy 10 [RCV003629102]|Hypertrophic cardiomyopathy [RCV003998316]|not specified [RCV000156501] | likely benign | 12 | 110911098 | 110911098 | Human | 5 | name , alternate_id |
| 155725695 | CV1790969 | single nucleotide variant | NM_000432.4(MYL2):c.41A>G (p.Asn14Ser) | Cardiovascular phenotype [RCV002327847] | uncertain significance | 12 | 110919156 | 110919156 | Human | | name |
| 155742125 | CV1791254 | single nucleotide variant | NM_000432.4(MYL2):c.438G>T (p.Val146=) | Cardiovascular phenotype [RCV002333640] | likely benign | 12 | 110911140 | 110911140 | Human | | name |
| 9833321 | CV179427 | insertion | NM_000432.4(MYL2):c.274+16_274+17insTC | Cardiomyopathy [RCV000158903]|Hypertrophic cardiomyopathy 10 [RCV000625483]|not provided [RCV001529455]|not specified [RCV001174735] | benign|likely benign|no classifications from unflagged records | 12 | 110914169 | 110914170 | Human | 3 | name , alternate_id |
| 9833329 | CV179433 | single nucleotide variant | NM_000432.4(MYL2):c.97T>C (p.Phe33Leu) | Cardiomyopathy [RCV001186245]|Cardiovascular phenotype [RCV003352786]|Hypertrophic cardiomyopathy 10 [RCV000537629]|Hypertrophic cardiomyopathy 10 [RCV002505191]|Hypertrophic cardiomyopathy [RCV003998370]|not provided [RCV000158916] | uncertain significance | 12 | 110915787 | 110915787 | Human | 6 | name , alternate_id |
| 9833328 | CV179434 | single nucleotide variant | NM_000432.4(MYL2):c.64G>T (p.Glu22Ter) | Cardiovascular phenotype [RCV002362844]|not provided [RCV000158915] | uncertain significance | 12 | 110919133 | 110919133 | Human | | name |
| 9833327 | CV179435 | single nucleotide variant | NM_000432.4(MYL2):c.53T>C (p.Phe18Ser) | Cardiovascular phenotype [RCV004019921]|Hypertrophic cardiomyopathy 10 [RCV001850228]|Hypertrophic cardiomyopathy [RCV000852440]|not provided [RCV000158913] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 12 | 110919144 | 110919144 | Human | 3 | name , alternate_id |
| 9833326 | CV179436 | single nucleotide variant | NM_000432.4(MYL2):c.49G>A (p.Val17Met) | Cardiomyopathy [RCV001181615]|Cardiovascular phenotype [RCV000241994]|Hypertrophic cardiomyopathy 10 [RCV000470133]|Hypertrophic cardiomyopathy 10 [RCV002484987]|Hypertrophic cardiomyopathy [RCV003998369]|not provided [RCV000158912] | uncertain significance | 12 | 110919148 | 110919148 | Human | 6 | name , alternate_id |
| 9833318 | CV179437 | single nucleotide variant | NM_000432.4(MYL2):c.34G>T (p.Gly12Cys) | Cardiomyopathy [RCV000774463]|Cardiovascular phenotype [RCV004984708]|Hypertrophic cardiomyopathy 10 [RCV001208534]|Hypertrophic cardiomyopathy [RCV003998366] | benign|uncertain significance | 12 | 110919163 | 110919163 | Human | 5 | name , alternate_id |
| 9833325 | CV179438 | single nucleotide variant | NM_000432.4(MYL2):c.28G>A (p.Ala10Thr) | Cardiomyopathy [RCV001185249]|Cardiovascular phenotype [RCV005372251]|Hypertrophic cardiomyopathy 10 [RCV000794360]|Hypertrophic cardiomyopathy [RCV003998368]|not provided [RCV000158910] | uncertain significance | 12 | 110919169 | 110919169 | Human | 5 | name , alternate_id |
| 156384471 | CV1891573 | insertion | NM_000432.4(MYL2):c.274+11_274+12insGC | Hypertrophic cardiomyopathy 10 [RCV003067446] | likely benign | 12 | 110914174 | 110914175 | Human | 1 | name , alternate_id |
| 156099128 | CV2051019 | single nucleotide variant | NM_000432.4(MYL2):c.486A>T (p.Gly162=) | Hypertrophic cardiomyopathy 10 [RCV002824490] | likely benign | 12 | 110911092 | 110911092 | Human | 1 | name , alternate_id |
| 11545292 | CV258712 | single nucleotide variant | NM_000432.4(MYL2):c.456C>T (p.Tyr152=) | Cardiomyopathy [RCV000777833]|Cardiovascular phenotype [RCV000244942]|Hypertrophic cardiomyopathy 10 [RCV000534152]|Hypertrophic cardiomyopathy [RCV003999015]|MYL2-related disorder [RCV004535215]|not provided [RCV001722368]|not specified [RCV001729497] | benign|likely benign | 12 | 110911122 | 110911122 | Human | 5 | name , trait , alternate_id |
| 401718650 | CV2732825 | single nucleotide variant | NM_000432.4(MYL2):c.40A>C (p.Asn14His) | Cardiovascular phenotype [RCV003311102] | uncertain significance | 12 | 110919157 | 110919157 | Human | | name |
| 401855080 | CV2753831 | single nucleotide variant | NM_000432.4(MYL2):c.61T>G (p.Phe21Val) | Cardiovascular phenotype [RCV003339194] | uncertain significance | 12 | 110919136 | 110919136 | Human | | name |
| 405015708 | CV2865597 | single nucleotide variant | NM_000432.4(MYL2):c.84A>C (p.Glu28Asp) | Hypertrophic cardiomyopathy 10 [RCV003515382] | uncertain significance | 12 | 110919113 | 110919113 | Human | 1 | name , alternate_id |
| 8599674 | CV29103 | single nucleotide variant | NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) | Cardiomyopathy [RCV001184984]|Cardiovascular phenotype [RCV000620870]|Hypertrophic cardiomyopathy 1 [RCV000584799]|Hypertrophic cardiomyopathy 10 [RCV000015108]|Hypertrophic cardiomyopathy [RCV000626337]|Primary familial hypertrophic cardiomyopathy [RCV000148714]|not provided [RCV000766474] | pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided | 12 | 110919160 | 110919160 | Human | 7 | name , alternate_id |
| 8599675 | CV29104 | single nucleotide variant | NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) | Cardiomyopathy [RCV001170438]|Cardiovascular phenotype [RCV002354163]|Death in early adulthood [RCV000234985]|Hypertrophic cardiomyopathy 10 [RCV000015109]|Hypertrophic cardiomyopathy [RCV000768488]|MYL2-related disorder [RCV004532354]|not provided [RCV000158914 ] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided | 12 | 110919133 | 110919133 | Human | 7 | name , trait , alternate_id |
| 8599678 | CV29107 | single nucleotide variant | NM_000432.4(MYL2):c.52T>C (p.Phe18Leu) | Cardiomyopathy [RCV005401284]|Cardiovascular phenotype [RCV000246859]|Hypertrophic cardiomyopathy 10 [RCV000015112]|Hypertrophic cardiomyopathy 10 [RCV002504789]|Hypertrophic cardiomyopathy [RCV004806011]|not provided [RCV002247340] | pathogenic|likely pathogenic | 12 | 110919145 | 110919145 | Human | 6 | name , alternate_id |
| 405065100 | CV2934710 | single nucleotide variant | NM_000432.4(MYL2):c.384G>A (p.Glu128=) | Cardiomyopathy [RCV003532740] | likely benign | 12 | 110913114 | 110913114 | Human | 2 | name |
| 402520773 | CV2963585 | single nucleotide variant | NM_000432.4(MYL2):c.420C>A (p.Ala140=) | Hypertrophic cardiomyopathy 10 [RCV003630189] | likely benign | 12 | 110911158 | 110911158 | Human | 1 | name , alternate_id |
| 402523972 | CV2985286 | single nucleotide variant | NM_000432.4(MYL2):c.351T>C (p.Asp117=) | Hypertrophic cardiomyopathy 10 [RCV003630433] | likely benign | 12 | 110913248 | 110913248 | Human | 1 | name , alternate_id |
| 405046946 | CV3012668 | single nucleotide variant | NM_000432.4(MYL2):c.62T>C (p.Phe21Ser) | Hypertrophic cardiomyopathy 10 [RCV003630852] | uncertain significance | 12 | 110919135 | 110919135 | Human | 1 | name , alternate_id |
| 405049578 | CV3025434 | single nucleotide variant | NM_000432.4(MYL2):c.41A>T (p.Asn14Ile) | Hypertrophic cardiomyopathy 10 [RCV003631049] | uncertain significance | 12 | 110919156 | 110919156 | Human | 1 | name , alternate_id |
| 402464535 | CV3177063 | single nucleotide variant | NM_000432.4(MYL2):c.330C>A (p.Gly110=) | Hypertrophic cardiomyopathy 10 [RCV003872694] | likely benign | 12 | 110913269 | 110913269 | Human | 1 | name , alternate_id |
| 405725723 | CV3230548 | single nucleotide variant | NM_000432.4(MYL2):c.306A>G (p.Ala102=) | Hypertrophic cardiomyopathy [RCV004013301] | likely benign | 12 | 110913293 | 110913293 | Human | 2 | name |
| 405712548 | CV3231855 | deletion | NM_000432.4(MYL2):c.224del (p.Gly75fs) | Hypertrophic cardiomyopathy [RCV004011885] | uncertain significance | 12 | 110914236 | 110914236 | Human | 2 | name |
| 405755646 | CV3232683 | single nucleotide variant | NM_000432.4(MYL2):c.70A>G (p.Thr24Ala) | Hypertrophic cardiomyopathy [RCV004016819] | uncertain significance | 12 | 110919127 | 110919127 | Human | 2 | name |
| 405756335 | CV3232979 | single nucleotide variant | NM_000432.4(MYL2):c.381G>T (p.Ala127=) | Hypertrophic cardiomyopathy [RCV004016930] | likely benign | 12 | 110913117 | 110913117 | Human | 2 | name |
| 405686485 | CV3388889 | single nucleotide variant | NM_000432.4(MYL2):c.73C>G (p.Gln25Glu) | Cardiovascular phenotype [RCV004518445]|not provided [RCV005054484] | uncertain significance | 12 | 110919124 | 110919124 | Human | | name |
| 407504438 | CV3454539 | single nucleotide variant | NM_000432.4(MYL2):c.42C>G (p.Asn14Lys) | Cardiovascular phenotype [RCV004645814] | uncertain significance | 12 | 110919155 | 110919155 | Human | | name |
| 12832970 | CV372858 | single nucleotide variant | NM_000432.4(MYL2):c.315G>C (p.Val105=) | Cardiomyopathy [RCV001187664]|Cardiovascular phenotype [RCV005384714]|Hypertrophic cardiomyopathy 10 [RCV002062504]|Hypertrophic cardiomyopathy [RCV004000368]|not specified [RCV000417604] | likely benign | 12 | 110913284 | 110913284 | Human | 5 | name , alternate_id |
| 597946221 | CV3774823 | single nucleotide variant | NM_000432.4(MYL2):c.56C>T (p.Ser19Phe) | Hypertrophic cardiomyopathy 10 [RCV005119920] | uncertain significance | 12 | 110919141 | 110919141 | Human | 1 | name , alternate_id |
| 597945226 | CV3779581 | single nucleotide variant | NM_000432.4(MYL2):c.43T>G (p.Ser15Ala) | Hypertrophic cardiomyopathy 10 [RCV005134545] | uncertain significance | 12 | 110919154 | 110919154 | Human | 1 | name , alternate_id |
| 597912704 | CV3817317 | single nucleotide variant | NM_000432.4(MYL2):c.95C>T (p.Ala32Val) | Hypertrophic cardiomyopathy 10 [RCV005154519] | uncertain significance | 12 | 110915789 | 110915789 | Human | 1 | name , alternate_id |
| 597899125 | CV3854635 | single nucleotide variant | NM_000432.4(MYL2):c.88A>G (p.Lys30Glu) | Hypertrophic cardiomyopathy 10 [RCV005201743] | uncertain significance | 12 | 110919109 | 110919109 | Human | 1 | name , alternate_id |
| 598223588 | CV3892130 | single nucleotide variant | NM_000432.4(MYL2):c.52T>A (p.Phe18Ile) | Hypertrophic cardiomyopathy 10 [RCV005253470] | uncertain significance | 12 | 110919145 | 110919145 | Human | 1 | name , alternate_id |
| 13436947 | CV433728 | single nucleotide variant | NM_000432.4(MYL2):c.59T>A (p.Met20Lys) | Hypertrophic cardiomyopathy 10 [RCV001321322]|not specified [RCV000508032] | uncertain significance | 12 | 110919138 | 110919138 | Human | 1 | name , alternate_id |
| 8602991 | CV45308 | single nucleotide variant | NM_000432.4(MYL2):c.381G>A (p.Ala127=) | Cardiomyopathy [RCV000770392]|Cardiovascular phenotype [RCV000245283]|Hypertrophic cardiomyopathy 10 [RCV000234665]|Hypertrophic cardiomyopathy [RCV003125846]|Primary familial hypertrophic cardiomyopathy [RCV000030325]|not provided [RCV001705608]|not specified [RCV000036402] | benign|likely benign | 12 | 110913117 | 110913117 | Human | 7 | name , alternate_id |
| 13482537 | CV462181 | single nucleotide variant | NM_000432.4(MYL2):c.375G>A (p.Thr125=) | Cardiomyopathy [RCV000777852]|Cardiovascular phenotype [RCV003352910]|Hypertrophic cardiomyopathy 10 [RCV000551899]|Hypertrophic cardiomyopathy 10 [RCV002476147]|Hypertrophic cardiomyopathy [RCV003999137] | likely benign | 12 | 110913123 | 110913123 | Human | 6 | name , alternate_id |
| 13469619 | CV462412 | single nucleotide variant | NM_000432.4(MYL2):c.444C>T (p.Gly148=) | Cardiovascular phenotype [RCV002330873]|Hypertrophic cardiomyopathy 10 [RCV000545501] | likely benign|uncertain significance | 12 | 110911134 | 110911134 | Human | 1 | name , alternate_id |
| 13534684 | CV510341 | single nucleotide variant | NM_000432.4(MYL2):c.387G>A (p.Arg129=) | Cardiomyopathy [RCV001190199]|Cardiovascular phenotype [RCV000618872]|Hypertrophic cardiomyopathy 10 [RCV001417069]|Hypertrophic cardiomyopathy [RCV004002662] | likely benign | 12 | 110913111 | 110913111 | Human | 5 | name , alternate_id |
| 8606289 | CV52636 | single nucleotide variant | NM_000432.4(MYL2):c.31G>A (p.Gly11Arg) | Cardiomyopathy [RCV001185545]|Hypertrophic cardiomyopathy 10 [RCV001036752]|Hypertrophic cardiomyopathy [RCV003996223]|Primary dilated cardiomyopathy [RCV000678724]|not specified [RCV000036392] | uncertain significance | 12 | 110919166 | 110919166 | Human | 6 | name , alternate_id |
| 8606290 | CV52637 | single nucleotide variant | NM_000432.4(MYL2):c.324T>C (p.Pro108=) | not specified [RCV000036393] | likely benign | 12 | 110913275 | 110913275 | Human | | name |
| 8606292 | CV52639 | single nucleotide variant | NM_000432.4(MYL2):c.342G>A (p.Leu114=) | Cardiomyopathy [RCV001170436]|Cardiovascular phenotype [RCV002453304]|Hypertrophic cardiomyopathy 10 [RCV000467703]|Hypertrophic cardiomyopathy [RCV003996225]|not provided [RCV002292460]|not specified [RCV000036395] | benign|likely benign|conflicting interpretations of pathogenicity | 12 | 110913257 | 110913257 | Human | 5 | name , alternate_id |
| 8606299 | CV52646 | single nucleotide variant | NM_000432.4(MYL2):c.429C>G (p.Pro143=) | Cardiovascular phenotype [RCV002326735]|Hypertrophic cardiomyopathy 10 [RCV000462127]|MYL2-related disorder [RCV004534760]|not specified [RCV000036405] | likely benign | 12 | 110911149 | 110911149 | Human | 1 | name , trait , alternate_id |
| 8606300 | CV52647 | single nucleotide variant | NM_000432.4(MYL2):c.447C>T (p.Asn149=) | Cardiomyopathy [RCV003531922]|Cardiovascular phenotype [RCV004984659]|Hypertrophic cardiomyopathy 10 [RCV000560339]|Hypertrophic cardiomyopathy [RCV003996228]|not specified [RCV000036406] | likely benign | 12 | 110911131 | 110911131 | Human | 5 | name , alternate_id |
| 8606304 | CV52651 | single nucleotide variant | NM_000432.4(MYL2):c.80A>G (p.Gln27Arg) | Hypertrophic cardiomyopathy 10 [RCV001852758]|Hypertrophic cardiomyopathy [RCV000036410]|Primary familial hypertrophic cardiomyopathy [RCV000845333] | likely pathogenic|uncertain significance | 12 | 110919117 | 110919117 | Human | 4 | name , alternate_id |
| 8606305 | CV52652 | single nucleotide variant | NM_000432.4(MYL2):c.82G>A (p.Glu28Lys) | not specified [RCV000036411] | uncertain significance | 12 | 110919115 | 110919115 | Human | | name |
| 8606306 | CV52653 | single nucleotide variant | NM_000432.4(MYL2):c.84A>T (p.Glu28Asp) | Cardiomyopathy [RCV003149629]|not specified [RCV000036412] | uncertain significance | 12 | 110919113 | 110919113 | Human | 2 | name |
| 13607742 | CV527248 | single nucleotide variant | NM_000432.4(MYL2):c.42C>A (p.Asn14Lys) | Cardiovascular phenotype [RCV004025585]|Hypertrophic cardiomyopathy 10 [RCV000639674]|Hypertrophic cardiomyopathy [RCV004003899] | uncertain significance | 12 | 110919155 | 110919155 | Human | 3 | name , alternate_id |
| 14689039 | CV615036 | single nucleotide variant | NM_000432.4(MYL2):c.420C>G (p.Ala140=) | Cardiomyopathy [RCV000770391] | likely benign | 12 | 110911158 | 110911158 | Human | 2 | name |
| 14688589 | CV615038 | single nucleotide variant | NM_000432.4(MYL2):c.81G>C (p.Gln27His) | Cardiomyopathy [RCV000769370] | uncertain significance | 12 | 110919116 | 110919116 | Human | 2 | name |
| 15099597 | CV687878 | single nucleotide variant | NM_000432.4(MYL2):c.420C>T (p.Ala140=) | Cardiomyopathy [RCV003532298]|Cardiovascular phenotype [RCV002332812]|Hypertrophic cardiomyopathy 10 [RCV002064634]|Hypertrophic cardiomyopathy [RCV004003054] | likely benign | 12 | 110911158 | 110911158 | Human | 5 | name , alternate_id |
| 15120848 | CV693142 | single nucleotide variant | NM_000432.4(MYL2):c.417C>T (p.Phe139=) | Cardiomyopathy [RCV001176106]|Hypertrophic cardiomyopathy 10 [RCV001429557]|Hypertrophic cardiomyopathy [RCV004003096] | likely benign | 12 | 110911161 | 110911161 | Human | 5 | name , alternate_id |
| 15162325 | CV753091 | single nucleotide variant | NM_000432.4(MYL2):c.465G>C (p.Leu155=) | Hypertrophic cardiomyopathy 10 [RCV001444447] | likely benign | 12 | 110911113 | 110911113 | Human | 1 | name , alternate_id |
| 15107263 | CV768890 | single nucleotide variant | NM_000432.4(MYL2):c.435C>T (p.Asp145=) | Cardiomyopathy [RCV001183082]|Cardiovascular phenotype [RCV003169407]|Hypertrophic cardiomyopathy 10 [RCV001505935]|Hypertrophic cardiomyopathy [RCV004003298] | likely benign | 12 | 110911143 | 110911143 | Human | 5 | name , alternate_id |
| 21405473 | CV799665 | insertion | NM_000432.4(MYL2):c.274+15_274+16insCT | Familial hypertrophic cardiomyopathy 10 [RCV001000538] | benign | 12 | 110914170 | 110914171 | Human | | name , alternate_id |
| 26884799 | CV839321 | single nucleotide variant | NM_000432.4(MYL2):c.83A>G (p.Glu28Gly) | Hypertrophic cardiomyopathy 10 [RCV001052552] | uncertain significance | 12 | 110919114 | 110919114 | Human | 1 | name , alternate_id |
| 28910533 | CV869286 | single nucleotide variant | NM_000432.4(MYL2):c.354C>T (p.Tyr118=) | Cardiomyopathy [RCV005401734]|Cardiovascular phenotype [RCV002339403]|Hypertrophic cardiomyopathy 10 [RCV001109258]|MYL2-related disorder [RCV004538331] | likely benign|uncertain significance | 12 | 110913144 | 110913144 | Human | 3 | name , trait , alternate_id |
| 28910534 | CV869287 | single nucleotide variant | NM_000432.4(MYL2):c.41A>C (p.Asn14Thr) | Hypertrophic cardiomyopathy 10 [RCV001109260] | uncertain significance | 12 | 110919156 | 110919156 | Human | 1 | name , alternate_id |
| 34896931 | CV911890 | single nucleotide variant | NM_000432.4(MYL2):c.483C>T (p.His161=) | Cardiomyopathy [RCV001186028]|Cardiovascular phenotype [RCV002339469]|Hypertrophic cardiomyopathy 10 [RCV001405765]|Hypertrophic cardiomyopathy [RCV004008572] | likely benign | 12 | 110911095 | 110911095 | Human | 5 | name , alternate_id |
| 34897140 | CV911892 | single nucleotide variant | NM_000432.4(MYL2):c.474C>T (p.Ile158=) | Cardiomyopathy [RCV001186204]|Cardiovascular phenotype [RCV002339470]|Hypertrophic cardiomyopathy 10 [RCV001442408] | likely benign | 12 | 110911104 | 110911104 | Human | 3 | name , alternate_id |
| 34891418 | CV911894 | single nucleotide variant | NM_000432.4(MYL2):c.468G>A (p.Val156=) | Cardiomyopathy [RCV001182519]|Cardiovascular phenotype [RCV003284021]|Hypertrophic cardiomyopathy 10 [RCV002068319]|Hypertrophic cardiomyopathy [RCV004008305] | likely benign | 12 | 110911110 | 110911110 | Human | 5 | name , alternate_id |
| 34898176 | CV911895 | single nucleotide variant | NM_000432.4(MYL2):c.450G>A (p.Leu150=) | Cardiomyopathy [RCV001187039]|Hypertrophic cardiomyopathy [RCV004008654] | likely benign | 12 | 110911128 | 110911128 | Human | 4 | name |
| 34897566 | CV911904 | single nucleotide variant | NM_000432.4(MYL2):c.303C>T (p.Asn101=) | Cardiomyopathy [RCV001179256]|Cardiovascular phenotype [RCV002445422]|Hypertrophic cardiomyopathy 10 [RCV001443899]|Hypertrophic cardiomyopathy [RCV004006550] | likely benign | 12 | 110913296 | 110913296 | Human | 5 | name , alternate_id |
| 34901558 | CV911909 | deletion | NM_000432.4(MYL2):c.188del (p.Asn63fs) | Cardiomyopathy [RCV001191866]|Cardiovascular phenotype [RCV002411721]|Hypertrophic cardiomyopathy 10 [RCV001211451]|not provided [RCV001567726]|not specified [RCV003396801] | conflicting interpretations of pathogenicity|uncertain significance | 12 | 110914272 | 110914272 | Human | 3 | name , alternate_id |
| 34895354 | CV911914 | single nucleotide variant | NM_000432.4(MYL2):c.58A>G (p.Met20Val) | Cardiomyopathy [RCV001178039]|Hypertrophic cardiomyopathy 10 [RCV003629155] | uncertain significance | 12 | 110919139 | 110919139 | Human | 3 | name , alternate_id |
| 34896063 | CV911915 | single nucleotide variant | NM_000432.4(MYL2):c.56C>G (p.Ser19Cys) | Cardiomyopathy [RCV001185608]|Hypertrophic cardiomyopathy 10 [RCV001317123]|Hypertrophic cardiomyopathy [RCV004807399] | uncertain significance | 12 | 110919141 | 110919141 | Human | 5 | name , alternate_id |
| 34901851 | CV911916 | single nucleotide variant | NM_000432.4(MYL2):c.34G>A (p.Gly12Ser) | Cardiomyopathy [RCV001192326]|Hypertrophic cardiomyopathy 10 [RCV001859164] | uncertain significance | 12 | 110919163 | 110919163 | Human | 3 | name , alternate_id |
| 34901189 | CV911917 | single nucleotide variant | NM_000432.4(MYL2):c.31G>C (p.Gly11Arg) | Cardiomyopathy [RCV001191292] | uncertain significance | 12 | 110919166 | 110919166 | Human | 2 | name |
| 126774650 | CV1030661 | deletion | NM_000432.4(MYL2):c.432del (p.Asp145fs) | Hypertrophic cardiomyopathy 10 [RCV001347471]|Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy [RCV001553793] | pathogenic|uncertain significance | 12 | 110911146 | 110911146 | Human | 2 | name , alternate_id |
| 126747118 | CV1030663 | single nucleotide variant | NM_000432.4(MYL2):c.119G>C (p.Arg40Thr) | Hypertrophic cardiomyopathy 10 [RCV001337424]|Hypertrophic cardiomyopathy [RCV004808017] | uncertain significance | 12 | 110915765 | 110915765 | Human | 3 | name , alternate_id |
| 126913131 | CV1047677 | single nucleotide variant | NM_000432.4(MYL2):c.232A>G (p.Asn78Asp) | Hypertrophic cardiomyopathy 10 [RCV001359060]|not provided [RCV001776218] | uncertain significance | 12 | 110914228 | 110914228 | Human | 1 | name , alternate_id |
| 127325530 | CV1160937 | single nucleotide variant | NM_000432.4(MYL2):c.139A>T (p.Asn47Tyr) | Cardiomyopathy [RCV001525383] | uncertain significance | 12 | 110915745 | 110915745 | Human | 2 | name |
| 150516477 | CV1287377 | single nucleotide variant | NM_000432.4(MYL2):c.286G>A (p.Glu96Lys) | not provided [RCV001723356] | pathogenic|likely pathogenic | 12 | 110913313 | 110913313 | Human | | name |
| 150557228 | CV1310582 | single nucleotide variant | NM_000432.4(MYL2):c.220C>T (p.Pro74Ser) | Hypertrophic cardiomyopathy 10 [RCV003514522]|not provided [RCV001776316] | uncertain significance | 12 | 110914240 | 110914240 | Human | 1 | name , alternate_id |
| 151233117 | CV1320106 | single nucleotide variant | NM_000432.4(MYL2):c.193G>T (p.Glu65Ter) | Cardiomyopathy [RCV001799463] | likely pathogenic | 12 | 110914267 | 110914267 | Human | 2 | name |
| 151233123 | CV1320108 | single nucleotide variant | NM_000432.4(MYL2):c.275G>A (p.Gly92Glu) | Cardiomyopathy [RCV001799465]|Cardiovascular phenotype [RCV002440882]|Hypertrophic cardiomyopathy 10 [RCV002304238] | uncertain significance | 12 | 110913324 | 110913324 | Human | 3 | name , alternate_id |
| 151348640 | CV1322641 | single nucleotide variant | NM_000432.4(MYL2):c.110A>G (p.Asp37Gly) | Cardiomyopathy [RCV001804437] | uncertain significance | 12 | 110915774 | 110915774 | Human | 2 | name |
| 151348775 | CV1322706 | single nucleotide variant | NM_000432.4(MYL2):c.144T>A (p.Asp48Glu) | Cardiomyopathy [RCV001804502]|Cardiovascular phenotype [RCV002388674] | uncertain significance | 12 | 110915740 | 110915740 | Human | 2 | name |
| 151350338 | CV1323023 | single nucleotide variant | NM_000432.4(MYL2):c.161C>T (p.Ala54Val) | Cardiomyopathy [RCV001805350]|Hypertrophic cardiomyopathy 10 [RCV001869536]|Hypertrophic cardiomyopathy [RCV004009125] | uncertain significance | 12 | 110915723 | 110915723 | Human | 5 | name , alternate_id |
| 151351043 | CV1323297 | single nucleotide variant | NM_000432.4(MYL2):c.241G>A (p.Val81Met) | Cardiomyopathy [RCV001805625] | uncertain significance | 12 | 110914219 | 110914219 | Human | 2 | name |
| 151355692 | CV1326824 | single nucleotide variant | NM_000432.4(MYL2):c.259G>A (p.Gly87Arg) | Cardiovascular phenotype [RCV004040956]|Hypertrophic cardiomyopathy 10 [RCV001885309]|not provided [RCV001822034] | uncertain significance | 12 | 110914201 | 110914201 | Human | 1 | name , alternate_id |
| 151876363 | CV1360217 | single nucleotide variant | NM_000432.4(MYL2):c.133G>A (p.Asp45Asn) | Hypertrophic cardiomyopathy 10 [RCV001907114] | uncertain significance | 12 | 110915751 | 110915751 | Human | 1 | name , alternate_id |
| 151861380 | CV1364915 | duplication | NM_000432.4(MYL2):c.352dup (p.Tyr118fs) | Hypertrophic cardiomyopathy 10 [RCV002017796] | uncertain significance | 12 | 110913246 | 110913247 | Human | 1 | name , alternate_id |
| 151797346 | CV1377029 | single nucleotide variant | NM_000432.4(MYL2):c.295A>G (p.Ile99Val) | Hypertrophic cardiomyopathy 10 [RCV001917385] | uncertain significance | 12 | 110913304 | 110913304 | Human | 1 | name , alternate_id |
| 151831502 | CV1377915 | single nucleotide variant | NM_000432.4(MYL2):c.212A>T (p.Lys71Met) | Hypertrophic cardiomyopathy 10 [RCV002014353] | uncertain significance | 12 | 110914248 | 110914248 | Human | 1 | name , alternate_id |
| 151819297 | CV1385836 | single nucleotide variant | NM_000432.4(MYL2):c.135C>A (p.Asp45Glu) | Cardiomyopathy [RCV003533091]|Hypertrophic cardiomyopathy 10 [RCV002013213] | uncertain significance | 12 | 110915749 | 110915749 | Human | 3 | name , alternate_id |
| 151727000 | CV1409818 | single nucleotide variant | NM_000432.4(MYL2):c.218C>A (p.Ala73Asp) | Hypertrophic cardiomyopathy 10 [RCV001910476]|Hypertrophic cardiomyopathy [RCV004808161] | uncertain significance | 12 | 110914242 | 110914242 | Human | 3 | name , alternate_id |
| 151885788 | CV1418197 | single nucleotide variant | NM_000432.4(MYL2):c.283C>T (p.Pro95Ser) | Cardiomyopathy [RCV005403131]|Hypertrophic cardiomyopathy 10 [RCV001887426]|not provided [RCV005416569] | uncertain significance | 12 | 110913316 | 110913316 | Human | 3 | name , alternate_id |
| 151818863 | CV1420897 | single nucleotide variant | NM_000432.4(MYL2):c.217G>T (p.Ala73Ser) | Hypertrophic cardiomyopathy 10 [RCV002049589] | uncertain significance | 12 | 110914243 | 110914243 | Human | 1 | name , alternate_id |
| 151806281 | CV1453416 | single nucleotide variant | NM_000432.4(MYL2):c.290A>T (p.Glu97Val) | Hypertrophic cardiomyopathy 10 [RCV001877831] | uncertain significance | 12 | 110913309 | 110913309 | Human | 1 | name , alternate_id |
| 151847080 | CV1483917 | single nucleotide variant | NM_000432.4(MYL2):c.172C>T (p.Arg58Ter) | Cardiomyopathy [RCV005403139]|Hypertrophic cardiomyopathy 10 [RCV001903576]|Hypertrophic cardiomyopathy [RCV004010835]|MYL2-related disorder [RCV004538604] | uncertain significance | 12 | 110914288 | 110914288 | Human | 5 | name , trait , alternate_id |
| 151798878 | CV1503989 | single nucleotide variant | NM_000432.4(MYL2):c.160G>T (p.Ala54Ser) | Hypertrophic cardiomyopathy 10 [RCV001973723] | uncertain significance | 12 | 110915724 | 110915724 | Human | 1 | name , alternate_id |
| 151818979 | CV1513897 | single nucleotide variant | NM_000432.4(MYL2):c.274G>A (p.Gly92Arg) | Hypertrophic cardiomyopathy 10 [RCV001933956] | uncertain significance | 12 | 110914186 | 110914186 | Human | 1 | name , alternate_id |
| 9586861 | CV165570 | single nucleotide variant | NM_000432.4(MYL2):c.239C>A (p.Thr80Asn) | Hypertrophic cardiomyopathy 10 [RCV000542482]|Hypertrophic cardiomyopathy [RCV000844710]|Primary familial hypertrophic cardiomyopathy [RCV000143928] | pathogenic|likely pathogenic | 12 | 110914221 | 110914221 | Human | 4 | name , alternate_id |
| 152034476 | CV1669520 | deletion | NM_000432.4(MYL2):c.11_15del (p.Lys4fs) | Hypertrophic cardiomyopathy 10 [RCV005095765]|not provided [RCV002223511] | uncertain significance | 12 | 110919182 | 110919186 | Human | 1 | name , alternate_id |
| 153346518 | CV1691798 | single nucleotide variant | NM_000432.4(MYL2):c.205A>C (p.Met69Leu) | Hypertrophic cardiomyopathy 10 [RCV002273281] | uncertain significance | 12 | 110914255 | 110914255 | Human | 1 | name , alternate_id |
| 9691986 | CV175389 | single nucleotide variant | NM_000432.4(MYL2):c.275G>T (p.Gly92Val) | Hypertrophic cardiomyopathy 10 [RCV002516041]|not specified [RCV000151362] | likely pathogenic|uncertain significance | 12 | 110913324 | 110913324 | Human | 1 | name , alternate_id |
| 9691988 | CV175390 | single nucleotide variant | NM_000432.4(MYL2):c.184A>T (p.Lys62Ter) | Cardiomyopathy [RCV001177585]|Hypertrophic cardiomyopathy 10 [RCV000198198]|Hypertrophic cardiomyopathy [RCV003998211]|not provided [RCV000766353] | conflicting interpretations of pathogenicity|uncertain significance | 12 | 110914276 | 110914276 | Human | 5 | name , alternate_id |
| 9689149 | CV175391 | single nucleotide variant | NM_000432.4(MYL2):c.142G>T (p.Asp48Tyr) | Hypertrophic cardiomyopathy 10 [RCV001350528]|not specified [RCV000154586] | uncertain significance | 12 | 110915742 | 110915742 | Human | 1 | name , alternate_id |
| 9691989 | CV175392 | single nucleotide variant | NM_000432.4(MYL2):c.119G>A (p.Arg40Lys) | Cardiovascular phenotype [RCV002345474]|Hypertrophic cardiomyopathy 10 [RCV000464490]|Hypertrophic cardiomyopathy [RCV001293059]|not provided [RCV000766478]|not specified [RCV000151367] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 12 | 110915765 | 110915765 | Human | 3 | name , alternate_id |
| 9689179 | CV175536 | single nucleotide variant | NM_000432.4(MYL2):c.163G>T (p.Ala55Ser) | Cardiovascular phenotype [RCV002399541]|Hypertrophic cardiomyopathy 10 [RCV001297385]|Hypertrophic cardiomyopathy [RCV003998256]|not provided [RCV000489222] | likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 110915721 | 110915721 | Human | 3 | name , alternate_id |
| 9690100 | CV175537 | single nucleotide variant | NM_000432.4(MYL2):c.119G>T (p.Arg40Met) | Hypertrophic cardiomyopathy 10 [RCV000463477]|not specified [RCV000155752] | uncertain significance | 12 | 110915765 | 110915765 | Human | 1 | name , alternate_id |
| 9833334 | CV179429 | single nucleotide variant | NM_000432.4(MYL2):c.257T>C (p.Phe86Ser) | Cardiomyopathy [RCV001180080]|Cardiovascular phenotype [RCV002426780]|Hypertrophic cardiomyopathy 10 [RCV001370474]|Hypertrophic cardiomyopathy [RCV003998374]|not provided [RCV000158925]|not specified [RCV002247553] | likely pathogenic|uncertain significance | 12 | 110914203 | 110914203 | Human | 5 | name , alternate_id |
| 9833333 | CV179430 | single nucleotide variant | NM_000432.4(MYL2):c.181G>A (p.Val61Met) | Cardiomyopathy [RCV001524471]|Hypertrophic cardiomyopathy 10 [RCV001241595]|Hypertrophic cardiomyopathy [RCV003998373]|not provided [RCV000158924] | uncertain significance | 12 | 110914279 | 110914279 | Human | 5 | name , alternate_id |
| 9833331 | CV179431 | single nucleotide variant | NM_000432.4(MYL2):c.113A>G (p.Gln38Arg) | not provided [RCV000158918] | likely pathogenic|uncertain significance | 12 | 110915771 | 110915771 | Human | | name |
| 9833330 | CV179432 | single nucleotide variant | NM_000432.4(MYL2):c.103A>G (p.Ile35Val) | Cardiomyopathy [RCV003532001]|Cardiovascular phenotype [RCV002390384]|Hypertrophic cardiomyopathy 10 [RCV001219554]|Hypertrophic cardiomyopathy [RCV003998371] | likely pathogenic|uncertain significance | 12 | 110915781 | 110915781 | Human | 5 | name , alternate_id |
| 155691618 | CV1794726 | single nucleotide variant | NM_000432.4(MYL2):c.112C>A (p.Gln38Lys) | Cardiovascular phenotype [RCV002320490] | uncertain significance | 12 | 110915772 | 110915772 | Human | | name |
| 155745753 | CV1838813 | single nucleotide variant | NM_000432.4(MYL2):c.185A>C (p.Lys62Thr) | Cardiovascular phenotype [RCV002414883] | uncertain significance | 12 | 110914275 | 110914275 | Human | | name |
| 155696592 | CV1845323 | single nucleotide variant | NM_000432.4(MYL2):c.247C>T (p.Leu83Phe) | Cardiovascular phenotype [RCV002443941]|Hypertrophic cardiomyopathy [RCV004808341] | uncertain significance | 12 | 110914213 | 110914213 | Human | 2 | name |
| 156370392 | CV1888025 | single nucleotide variant | NM_000432.4(MYL2):c.160G>A (p.Ala54Thr) | Hypertrophic cardiomyopathy 10 [RCV003092373]|MYL2-related disorder [RCV004736269] | uncertain significance | 12 | 110915724 | 110915724 | Human | 1 | name , trait , alternate_id |
| 10046881 | CV189893 | deletion | NM_000432.4(MYL2):c.431del (p.Pro144fs) | Cardiovascular phenotype [RCV000618518]|Hypertrophic cardiomyopathy 10 [RCV001852081]|Hypertrophic cardiomyopathy [RCV000171842]|Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy [RCV001553792] | pathogenic|likely pathogenic|uncertain significance | 12 | 110911147 | 110911147 | Human | 4 | name , alternate_id |
| 156216496 | CV2039145 | single nucleotide variant | NM_000432.4(MYL2):c.221C>G (p.Pro74Arg) | Hypertrophic cardiomyopathy 10 [RCV002766819]|Hypertrophic cardiomyopathy [RCV004007593] | uncertain significance | 12 | 110914239 | 110914239 | Human | 3 | name , alternate_id |
| 156276725 | CV2053631 | single nucleotide variant | NM_000432.4(MYL2):c.284C>T (p.Pro95Leu) | Hypertrophic cardiomyopathy 10 [RCV002806850] | uncertain significance | 12 | 110913315 | 110913315 | Human | 1 | name , alternate_id |
| 156296144 | CV2065327 | single nucleotide variant | NM_000432.4(MYL2):c.263A>C (p.Glu88Ala) | Hypertrophic cardiomyopathy 10 [RCV002856950]|Hypertrophic cardiomyopathy [RCV004808374] | uncertain significance | 12 | 110914197 | 110914197 | Human | 3 | name , alternate_id |
| 156107655 | CV2096513 | single nucleotide variant | NM_000432.4(MYL2):c.259G>C (p.Gly87Arg) | Hypertrophic cardiomyopathy 10 [RCV002913647] | uncertain significance | 12 | 110914201 | 110914201 | Human | 1 | name , alternate_id |
| 10448657 | CV214121 | single nucleotide variant | NM_000432.4(MYL2):c.125G>A (p.Gly42Asp) | Cardiomyopathy [RCV001178807]|Cardiovascular phenotype [RCV002426954]|Hypertrophic cardiomyopathy 10 [RCV000201445] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 12 | 110915759 | 110915759 | Human | 3 | name , alternate_id |
| 156392909 | CV2185335 | single nucleotide variant | NM_000432.4(MYL2):c.101C>A (p.Thr34Asn) | Hypertrophic cardiomyopathy 10 [RCV003051522] | uncertain significance | 12 | 110915783 | 110915783 | Human | 1 | name , alternate_id |
| 11040397 | CV224436 | single nucleotide variant | NM_000432.4(MYL2):c.262G>A (p.Glu88Lys) | Hypertrophic cardiomyopathy 10 [RCV001062013]|Primary dilated cardiomyopathy [RCV000208449] | uncertain significance | 12 | 110914198 | 110914198 | Human | 2 | name , alternate_id |
| 11094192 | CV230256 | single nucleotide variant | NM_000432.4(MYL2):c.101C>T (p.Thr34Ile) | Cardiomyopathy [RCV001187404]|not specified [RCV000220734] | uncertain significance | 12 | 110915783 | 110915783 | Human | 2 | name |
| 401735156 | CV2699182 | single nucleotide variant | NM_000432.4(MYL2):c.203A>C (p.Glu68Ala) | Cardiovascular phenotype [RCV004303680] | uncertain significance | 12 | 110914257 | 110914257 | Human | | name |
| 405015820 | CV2862258 | single nucleotide variant | NM_000432.4(MYL2):c.172C>G (p.Arg58Gly) | Hypertrophic cardiomyopathy 10 [RCV003515393] | uncertain significance | 12 | 110914288 | 110914288 | Human | 1 | name , alternate_id |
| 8599676 | CV29105 | single nucleotide variant | NM_000432.4(MYL2):c.283C>G (p.Pro95Ala) | Hypertrophic cardiomyopathy 10 [RCV000015110]|Hypertrophic cardiomyopathy [RCV003996096] | pathogenic|uncertain significance | 12 | 110913316 | 110913316 | Human | 3 | name , alternate_id |
| 8599677 | CV29106 | single nucleotide variant | NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) | Cardiomyopathy [RCV001798005]|Cardiovascular phenotype [RCV000621867]|Hypertrophic cardiomyopathy 10 [RCV000015111]|Hypertrophic cardiomyopathy [RCV000844711]|Primary familial hypertrophic cardiomyopathy [RCV000157369]|not provided [RCV000158923] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity | 12 | 110914287 | 110914287 | Human | 7 | name , alternate_id |
| 405022274 | CV2927321 | deletion | NM_000432.4(MYL2):c.19_23del (p.Lys7fs) | Hypertrophic cardiomyopathy 10 [RCV003516030] | uncertain significance | 12 | 110919174 | 110919178 | Human | 1 | name , alternate_id |
| 405065112 | CV2934711 | duplication | NM_000432.4(MYL2):c.337dup (p.Val113fs) | Cardiomyopathy [RCV003532741] | uncertain significance | 12 | 110913261 | 110913262 | Human | 2 | name |
| 402523575 | CV2981084 | single nucleotide variant | NM_000432.4(MYL2):c.277G>C (p.Ala93Pro) | Hypertrophic cardiomyopathy 10 [RCV003630402] | uncertain significance | 12 | 110913322 | 110913322 | Human | 1 | name , alternate_id |
| 402514998 | CV3069395 | single nucleotide variant | NM_000432.4(MYL2):c.122A>T (p.Asp41Val) | Hypertrophic cardiomyopathy 10 [RCV003629769] | uncertain significance | 12 | 110915762 | 110915762 | Human | 1 | name , alternate_id |
| 405739012 | CV3228845 | single nucleotide variant | NM_000432.4(MYL2):c.224G>A (p.Gly75Asp) | Hypertrophic cardiomyopathy [RCV004014766] | uncertain significance | 12 | 110914236 | 110914236 | Human | 2 | name |
| 405723943 | CV3230369 | single nucleotide variant | NM_000432.4(MYL2):c.176T>C (p.Val59Ala) | Hypertrophic cardiomyopathy [RCV004013122] | uncertain significance | 12 | 110914284 | 110914284 | Human | 2 | name |
| 405757718 | CV3233128 | single nucleotide variant | NM_000432.4(MYL2):c.145C>G (p.Leu49Val) | Hypertrophic cardiomyopathy [RCV004017081] | uncertain significance | 12 | 110915739 | 110915739 | Human | 2 | name |
| 405753163 | CV3234476 | deletion | NM_000432.4(MYL2):c.357del (p.Arg120fs) | Hypertrophic cardiomyopathy [RCV004016526] | uncertain significance | 12 | 110913141 | 110913141 | Human | 2 | name |
| 405746055 | CV3234752 | single nucleotide variant | NM_000432.4(MYL2):c.133G>C (p.Asp45His) | Hypertrophic cardiomyopathy 10 [RCV005103352]|Hypertrophic cardiomyopathy [RCV004015626] | uncertain significance | 12 | 110915751 | 110915751 | Human | 3 | name , alternate_id |
| 408394841 | CV3522089 | single nucleotide variant | NM_000432.4(MYL2):c.275G>C (p.Gly92Ala) | Hypertrophic cardiomyopathy [RCV004765088] | uncertain significance | 12 | 110913324 | 110913324 | Human | 2 | name |
| 408389132 | CV3522921 | single nucleotide variant | NM_000432.4(MYL2):c.131T>C (p.Ile44Thr) | not provided [RCV004769302] | uncertain significance | 12 | 110915753 | 110915753 | Human | | name |
| 596931347 | CV3531683 | single nucleotide variant | NM_000432.4(MYL2):c.227C>T (p.Pro76Leu) | not provided [RCV004781245] | uncertain significance | 12 | 110914233 | 110914233 | Human | | name |
| 596943115 | CV3546506 | deletion | NM_000432.4(MYL2):c.333del (p.Val113fs) | Hypertrophic cardiomyopathy 10 [RCV005061463]|Hypertrophic cardiomyopathy [RCV004807630] | uncertain significance | 12 | 110913266 | 110913266 | Human | 3 | name , alternate_id |
| 597697620 | CV3564864 | single nucleotide variant | NM_000432.4(MYL2):c.293C>G (p.Thr98Ser) | Cardiovascular phenotype [RCV004987402] | uncertain significance | 12 | 110913306 | 110913306 | Human | | name |
| 597697622 | CV3564865 | single nucleotide variant | NM_000432.4(MYL2):c.110A>T (p.Asp37Val) | Cardiovascular phenotype [RCV004987403] | uncertain significance | 12 | 110915774 | 110915774 | Human | | name |
| 597958750 | CV3751865 | single nucleotide variant | NM_000432.4(MYL2):c.167T>C (p.Leu56Pro) | Hypertrophic cardiomyopathy 10 [RCV005080994] | uncertain significance | 12 | 110915717 | 110915717 | Human | 1 | name , alternate_id |
| 597848676 | CV3792990 | single nucleotide variant | NM_000432.4(MYL2):c.230T>C (p.Ile77Thr) | Hypertrophic cardiomyopathy 10 [RCV005145126] | uncertain significance | 12 | 110914230 | 110914230 | Human | 1 | name , alternate_id |
| 597913460 | CV3850968 | single nucleotide variant | NM_000432.4(MYL2):c.224G>T (p.Gly75Val) | Hypertrophic cardiomyopathy 10 [RCV005203936] | uncertain significance | 12 | 110914236 | 110914236 | Human | 1 | name , alternate_id |
| 598190107 | CV3994052 | single nucleotide variant | NM_000432.4(MYL2):c.283C>A (p.Pro95Thr) | Cardiovascular phenotype [RCV005373990] | uncertain significance | 12 | 110913316 | 110913316 | Human | | name |
| 616934886 | CV4010140 | single nucleotide variant | NM_000432.4(MYL2):c.269T>G (p.Leu90Arg) | Cardiomyopathy [RCV005401761] | uncertain significance | 12 | 110914191 | 110914191 | Human | 2 | name |
| 616935869 | CV4010367 | single nucleotide variant | NM_000432.4(MYL2):c.149G>A (p.Arg50Lys) | Cardiomyopathy [RCV005403668] | uncertain significance | 12 | 110915735 | 110915735 | Human | 2 | name |
| 8602572 | CV40426 | single nucleotide variant | NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) | Cardiomyopathy [RCV000769367]|Cardiovascular phenotype [RCV000254541]|Death in infancy [RCV000234981]|Hypertrophic cardiomyopathy 1 [RCV000584767]|Hypertrophic cardiomyopathy 10 [RCV000528536]|Hypertrophic cardiomyopathy 10 [RCV002504822]|Hypertrophic cardiomyopathy [RCV003996116]|Premature ventricu lar contraction [RCV000157368]|Primary familial hypertrophic cardiomyopathy [RCV000148715]|not provided [RCV000024457] | pathogenic|likely benign|uncertain significance|not provided | 12 | 110915743 | 110915743 | Human | 12 | name , alternate_id |
| 13486940 | CV462187 | single nucleotide variant | NM_000432.4(MYL2):c.207G>T (p.Met69Ile) | Cardiovascular phenotype [RCV004984960]|Hypertrophic cardiomyopathy 10 [RCV000554010] | uncertain significance | 12 | 110914253 | 110914253 | Human | 1 | name , alternate_id |
| 13486930 | CV462418 | single nucleotide variant | NM_000432.4(MYL2):c.289G>A (p.Glu97Lys) | Cardiovascular phenotype [RCV002438360]|Hypertrophic cardiomyopathy 10 [RCV000531533] | uncertain significance | 12 | 110913310 | 110913310 | Human | 1 | name , alternate_id |
| 13509664 | CV482009 | single nucleotide variant | NM_000432.4(MYL2):c.289G>T (p.Glu97Ter) | not provided [RCV000578587] | uncertain significance | 12 | 110913310 | 110913310 | Human | | name |
| 8606281 | CV52628 | single nucleotide variant | NM_000432.4(MYL2):c.170G>A (p.Gly57Glu) | Cardiomyopathy [RCV001187128]|Cardiovascular phenotype [RCV000620413]|Hypertrophic cardiomyopathy 10 [RCV000819932]|Hypertrophic cardiomyopathy [RCV003996220]|not provided [RCV000119378]|not specified [RCV000036384] | likely pathogenic|uncertain significance|not provided | 12 | 110914290 | 110914290 | Human | 5 | name , alternate_id |
| 8606282 | CV52629 | single nucleotide variant | NM_000432.4(MYL2):c.193G>A (p.Glu65Lys) | Hypertrophic cardiomyopathy 10 [RCV002513380]|Hypertrophic cardiomyopathy [RCV000626688]|not provided [RCV001588846] | likely pathogenic|uncertain significance | 12 | 110914267 | 110914267 | Human | 3 | name , alternate_id |
| 8606284 | CV52631 | single nucleotide variant | NM_000432.4(MYL2):c.260G>C (p.Gly87Ala) | Cardiovascular phenotype [RCV002433497]|Hypertrophic cardiomyopathy [RCV000036387]|not provided [RCV000484012] | likely pathogenic|uncertain significance | 12 | 110914200 | 110914200 | Human | 2 | name |
| 13607751 | CV526673 | single nucleotide variant | NM_000432.4(MYL2):c.229A>G (p.Ile77Val) | Cardiovascular phenotype [RCV002424423]|Hypertrophic cardiomyopathy 10 [RCV000639680]|Hypertrophic cardiomyopathy [RCV004003900] | uncertain significance | 12 | 110914231 | 110914231 | Human | 3 | name , alternate_id |
| 13607749 | CV526675 | single nucleotide variant | NM_000432.4(MYL2):c.278C>T (p.Ala93Val) | Hypertrophic cardiomyopathy 10 [RCV000639679] | uncertain significance | 12 | 110913321 | 110913321 | Human | 1 | name , alternate_id |
| 13607747 | CV526684 | single nucleotide variant | NM_000432.4(MYL2):c.173G>T (p.Arg58Leu) | Hypertrophic cardiomyopathy 10 [RCV000639677]|not provided [RCV001575874] | likely pathogenic | 12 | 110914287 | 110914287 | Human | 1 | name , alternate_id |
| 13816249 | CV566320 | single nucleotide variant | NM_000432.4(MYL2):c.260G>A (p.Gly87Glu) | Cardiovascular phenotype [RCV002424631]|Hypertrophic cardiomyopathy 10 [RCV000692199]|not provided [RCV001538762] | likely pathogenic|uncertain significance | 12 | 110914200 | 110914200 | Human | 1 | name , alternate_id |
| 13808984 | CV567667 | single nucleotide variant | NM_000432.4(MYL2):c.203A>G (p.Glu68Gly) | Cardiovascular phenotype [RCV004026266]|Hypertrophic cardiomyopathy 10 [RCV000687538]|Hypertrophic cardiomyopathy 10 [RCV002485609]|Hypertrophic cardiomyopathy [RCV004004268] | uncertain significance | 12 | 110914257 | 110914257 | Human | 4 | name , alternate_id |
| 14741813 | CV640635 | single nucleotide variant | NM_000432.4(MYL2):c.256T>C (p.Phe86Leu) | Cardiomyopathy [RCV003532282]|Cardiovascular phenotype [RCV002427065]|Hypertrophic cardiomyopathy 10 [RCV000822404]|Hypertrophic cardiomyopathy [RCV004002842]|not provided [RCV002223255] | likely benign|uncertain significance | 12 | 110914204 | 110914204 | Human | 5 | name , alternate_id |
| 14739281 | CV640636 | single nucleotide variant | NM_000432.4(MYL2):c.254T>C (p.Met85Thr) | Hypertrophic cardiomyopathy 10 [RCV000821299] | uncertain significance | 12 | 110914206 | 110914206 | Human | 1 | name , alternate_id |
| 14724986 | CV640637 | single nucleotide variant | NM_000432.4(MYL2):c.253A>G (p.Met85Val) | Cardiovascular phenotype [RCV003344054]|Hypertrophic cardiomyopathy 10 [RCV000798623] | uncertain significance | 12 | 110914207 | 110914207 | Human | 1 | name , alternate_id |
| 14712563 | CV640638 | single nucleotide variant | NM_000432.4(MYL2):c.142G>A (p.Asp48Asn) | Cardiomyopathy [RCV000852439]|Hypertrophic cardiomyopathy 10 [RCV000810331]|Hypertrophic cardiomyopathy 10 [RCV002507408]|Hypertrophic cardiomyopathy [RCV004001721] | uncertain significance | 12 | 110915742 | 110915742 | Human | 5 | name , alternate_id |
| 21072460 | CV791194 | single nucleotide variant | NM_000432.4(MYL2):c.163G>C (p.Ala55Pro) | Hypertrophic cardiomyopathy 10 [RCV000988908] | likely pathogenic | 12 | 110915721 | 110915721 | Human | 1 | name , alternate_id |
| 26895050 | CV839318 | single nucleotide variant | NM_000432.4(MYL2):c.278C>A (p.Ala93Glu) | Hypertrophic cardiomyopathy 10 [RCV001063816]|Hypertrophic cardiomyopathy [RCV004000136]|not provided [RCV001760032]|not specified [RCV001195235] | pathogenic|uncertain significance | 12 | 110913321 | 110913321 | Human | 3 | name , alternate_id |
| 26888154 | CV839319 | single nucleotide variant | NM_000432.4(MYL2):c.247C>G (p.Leu83Val) | Hypertrophic cardiomyopathy 10 [RCV001057148] | uncertain significance | 12 | 110914213 | 110914213 | Human | 1 | name , alternate_id |
| 26921214 | CV839320 | single nucleotide variant | NM_000432.4(MYL2):c.175G>A (p.Val59Met) | Hypertrophic cardiomyopathy 10 [RCV001049441] | uncertain significance | 12 | 110914285 | 110914285 | Human | 1 | name , alternate_id |
| 34898309 | CV911898 | duplication | NM_000432.4(MYL2):c.438dup (p.Thr147fs) | Cardiomyopathy [RCV001179900] | uncertain significance | 12 | 110911139 | 110911140 | Human | 2 | name |
| 34893271 | CV911906 | single nucleotide variant | NM_000432.4(MYL2):c.221C>T (p.Pro74Leu) | Cardiomyopathy [RCV001176400]|Hypertrophic cardiomyopathy 10 [RCV001875812]|Hypertrophic cardiomyopathy [RCV004006291] | uncertain significance | 12 | 110914239 | 110914239 | Human | 5 | name , alternate_id |
| 34899953 | CV911907 | single nucleotide variant | NM_000432.4(MYL2):c.216G>C (p.Glu72Asp) | Cardiomyopathy [RCV001189237] | uncertain significance | 12 | 110914244 | 110914244 | Human | 2 | name |
| 34901370 | CV911908 | single nucleotide variant | NM_000432.4(MYL2):c.206T>C (p.Met69Thr) | Cardiomyopathy [RCV001191590]|Hypertrophic cardiomyopathy 10 [RCV001876239]|Hypertrophic cardiomyopathy 10 [RCV002484051]|Hypertrophic cardiomyopathy [RCV004010527] | uncertain significance | 12 | 110914254 | 110914254 | Human | 5 | name , alternate_id |
| 34895378 | CV911910 | single nucleotide variant | NM_000432.4(MYL2):c.176T>A (p.Val59Glu) | Cardiomyopathy [RCV001185348] | uncertain significance | 12 | 110914284 | 110914284 | Human | 2 | name |
| 34888998 | CV911912 | single nucleotide variant | NM_000432.4(MYL2):c.151G>T (p.Asp51Tyr) | Cardiomyopathy [RCV001181201] | uncertain significance | 12 | 110915733 | 110915733 | Human | 2 | name |
| 34895128 | CV911913 | single nucleotide variant | NM_000432.4(MYL2):c.142G>C (p.Asp48His) | Cardiomyopathy [RCV001185155] | uncertain significance | 12 | 110915742 | 110915742 | Human | 2 | name |
| 34896240 | CV917100 | single nucleotide variant | NM_000432.4(MYL2):c.181G>C (p.Val61Leu) | Cardiovascular phenotype [RCV004986932]|Hypertrophic cardiomyopathy 10 [RCV002559224]|not specified [RCV001193581] | uncertain significance | 12 | 110914279 | 110914279 | Human | 1 | name , alternate_id |
| 38491522 | CV956747 | single nucleotide variant | NM_000432.4(MYL2):c.255G>A (p.Met85Ile) | Cardiovascular phenotype [RCV002451582]|Hypertrophic cardiomyopathy 10 [RCV001239501] | uncertain significance | 12 | 110914205 | 110914205 | Human | 1 | name , alternate_id |
| 126756612 | CV994904 | single nucleotide variant | NM_000432.4(MYL2):c.169G>A (p.Gly57Arg) | Hypertrophic cardiomyopathy 10 [RCV001308163] | uncertain significance | 12 | 110915715 | 110915715 | Human | 1 | name , alternate_id |
| 126768460 | CV1010121 | single nucleotide variant | NM_000432.4(MYL2):c.499T>G (p.Ter167Glu) | Hypertrophic cardiomyopathy 10 [RCV001321375] | uncertain significance | 12 | 110911079 | 110911079 | Human | 1 | name , alternate_id |
| 126772739 | CV1010122 | single nucleotide variant | NM_000432.4(MYL2):c.496G>A (p.Asp166Asn) | Hypertrophic cardiomyopathy 10 [RCV001323928]|not provided [RCV001751627] | uncertain significance | 12 | 110911082 | 110911082 | Human | 1 | name , alternate_id |
| 126757278 | CV1010123 | single nucleotide variant | NM_000432.4(MYL2):c.434A>G (p.Asp145Gly) | Hypertrophic cardiomyopathy 10 [RCV001317440] | uncertain significance | 12 | 110911144 | 110911144 | Human | 1 | name , alternate_id |
| 126750280 | CV1030660 | single nucleotide variant | NM_000432.4(MYL2):c.454T>G (p.Tyr152Asp) | Hypertrophic cardiomyopathy 10 [RCV001352216] | uncertain significance | 12 | 110911124 | 110911124 | Human | 1 | name , alternate_id |
| 126913916 | CV1047676 | single nucleotide variant | NM_000432.4(MYL2):c.487G>A (p.Glu163Lys) | Hypertrophic cardiomyopathy 10 [RCV001359350] | uncertain significance | 12 | 110911091 | 110911091 | Human | 1 | name , alternate_id |
| 127286759 | CV1151326 | single nucleotide variant | NM_000432.4(MYL2):c.499T>C (p.Ter167Gln) | Congenital myopathy with fiber type disproportion [RCV001507318] | likely pathogenic | 12 | 110911079 | 110911079 | Human | 1 | name |
| 127326977 | CV1160935 | single nucleotide variant | NM_000432.4(MYL2):c.424T>C (p.Phe142Leu) | Cardiomyopathy [RCV001526320]|Cardiovascular phenotype [RCV002329656]|Hypertrophic cardiomyopathy 10 [RCV002568125]|Hypertrophic cardiomyopathy [RCV004008906]|not provided [RCV001776247] | uncertain significance | 12 | 110911154 | 110911154 | Human | 5 | name , alternate_id |
| 150416330 | CV1192635 | single nucleotide variant | NM_000432.4(MYL2):c.473T>C (p.Ile158Thr) | Congenital heart disease [RCV001568358] | pathogenic | 12 | 110911105 | 110911105 | Human | 1 | name |
| 150516487 | CV1287382 | single nucleotide variant | NM_000432.4(MYL2):c.376C>T (p.Gln126Ter) | Hypertrophic cardiomyopathy 10 [RCV002506746]|Hypertrophic cardiomyopathy [RCV004008971]|not provided [RCV001723361] | pathogenic|likely pathogenic|uncertain significance | 12 | 110913122 | 110913122 | Human | 3 | name , alternate_id |
| 151350471 | CV1323068 | single nucleotide variant | NM_000432.4(MYL2):c.304G>T (p.Ala102Ser) | Cardiomyopathy [RCV001805396]|Hypertrophic cardiomyopathy 10 [RCV002541429] | uncertain significance | 12 | 110913295 | 110913295 | Human | 3 | name , alternate_id |
| 151845061 | CV1349761 | single nucleotide variant | NM_000432.4(MYL2):c.394A>C (p.Lys132Gln) | Hypertrophic cardiomyopathy 10 [RCV001936598] | uncertain significance | 12 | 110913104 | 110913104 | Human | 1 | name , alternate_id |
| 8688938 | CV136725 | single nucleotide variant | NM_000432.4(MYL2):c.484G>A (p.Gly162Arg) | Cardiomyopathy [RCV000627045]|Hypertrophic cardiomyopathy 10 [RCV000226326]|Hypertrophic cardiomyopathy [RCV000156897]|not provided [RCV000119380] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records|not provided | 12 | 110911094 | 110911094 | Human | 5 | name , alternate_id |
| 151881934 | CV1371079 | single nucleotide variant | NM_000432.4(MYL2):c.400G>T (p.Glu134Ter) | Hypertrophic cardiomyopathy 10 [RCV001886628] | uncertain significance | 12 | 110913098 | 110913098 | Human | 1 | name , alternate_id |
| 151719890 | CV1396463 | single nucleotide variant | NM_000432.4(MYL2):c.425T>C (p.Phe142Ser) | Hypertrophic cardiomyopathy 10 [RCV001890925]|Hypertrophic cardiomyopathy [RCV004010778] | uncertain significance | 12 | 110911153 | 110911153 | Human | 3 | name , alternate_id |
| 151892870 | CV1411547 | single nucleotide variant | NM_000432.4(MYL2):c.325G>T (p.Glu109Ter) | Hypertrophic cardiomyopathy 10 [RCV001944563]|Hypertrophic cardiomyopathy [RCV004808141] | uncertain significance | 12 | 110913274 | 110913274 | Human | 3 | name , alternate_id |
| 151849934 | CV1465642 | single nucleotide variant | NM_000432.4(MYL2):c.484G>T (p.Gly162Ter) | Hypertrophic cardiomyopathy 10 [RCV002033031] | uncertain significance | 12 | 110911094 | 110911094 | Human | 1 | name , alternate_id |
| 151800267 | CV1494111 | single nucleotide variant | NM_000432.4(MYL2):c.356T>A (p.Val119Asp) | Hypertrophic cardiomyopathy 10 [RCV001952856] | uncertain significance | 12 | 110913142 | 110913142 | Human | 1 | name , alternate_id |
| 151769831 | CV1504063 | single nucleotide variant | NM_000432.4(MYL2):c.496G>C (p.Asp166His) | Hypertrophic cardiomyopathy 10 [RCV002045135] | uncertain significance | 12 | 110911082 | 110911082 | Human | 1 | name , alternate_id |
| 9690075 | CV175387 | single nucleotide variant | NM_000432.4(MYL2):c.421G>A (p.Ala141Thr) | Hypertrophic cardiomyopathy 10 [RCV000530339]|Primary dilated cardiomyopathy [RCV000852438]|not provided [RCV001555854]|not specified [RCV000155724] | uncertain significance | 12 | 110911157 | 110911157 | Human | 2 | name , alternate_id |
| 9689067 | CV175388 | single nucleotide variant | NM_000432.4(MYL2):c.392C>G (p.Ser131Cys) | not specified [RCV000154486] | uncertain significance | 12 | 110913106 | 110913106 | Human | | name |
| 9691985 | CV175531 | single nucleotide variant | NM_000432.4(MYL2):c.482A>G (p.His161Arg) | Hypertrophic cardiomyopathy [RCV000151360] | likely pathogenic | 12 | 110911096 | 110911096 | Human | 2 | name |
| 9689041 | CV175532 | single nucleotide variant | NM_000432.4(MYL2):c.428C>T (p.Pro143Leu) | Cardiomyopathy, dilated, and heart failure [RCV005430503]|Cardiovascular phenotype [RCV002326880]|Hypertrophic cardiomyopathy 10 [RCV000763791]|Hypertrophic cardiomyopathy 10 [RCV002478451]|Hypertrophic cardiomyopathy [RCV003998250]|not specified [RCV000154458] | uncertain significance | 12 | 110911150 | 110911150 | Human | 5 | name , alternate_id |
| 9689157 | CV175533 | single nucleotide variant | NM_000432.4(MYL2):c.402G>C (p.Glu134Asp) | not specified [RCV000154594] | uncertain significance | 12 | 110913096 | 110913096 | Human | | name |
| 9690817 | CV175534 | single nucleotide variant | NM_000432.4(MYL2):c.389T>G (p.Phe130Cys) | not specified [RCV000156509] | uncertain significance | 12 | 110913109 | 110913109 | Human | | name |
| 155675509 | CV1779113 | single nucleotide variant | NM_000432.4(MYL2):c.490G>A (p.Glu164Lys) | Cardiovascular phenotype [RCV002346586]|Hypertrophic cardiomyopathy 10 [RCV002297899] | uncertain significance | 12 | 110911088 | 110911088 | Human | 1 | name , alternate_id |
| 155694808 | CV1788930 | single nucleotide variant | NM_000432.4(MYL2):c.335G>A (p.Gly112Glu) | Cardiomyopathy [RCV005403202]|Cardiovascular phenotype [RCV002321065]|Hypertrophic cardiomyopathy [RCV004808260]|not provided [RCV003389905] | uncertain significance | 12 | 110913264 | 110913264 | Human | 4 | name |
| 155716875 | CV1792041 | single nucleotide variant | NM_000432.4(MYL2):c.328G>A (p.Gly110Ser) | Cardiovascular phenotype [RCV002326148] | uncertain significance | 12 | 110913271 | 110913271 | Human | | name |
| 9833338 | CV179421 | single nucleotide variant | NM_000432.4(MYL2):c.496G>T (p.Asp166Tyr) | not provided [RCV000158935] | pathogenic|likely pathogenic | 12 | 110911082 | 110911082 | Human | | name |
| 9833323 | CV179422 | single nucleotide variant | NM_000432.4(MYL2):c.488A>G (p.Glu163Gly) | Hypertrophic cardiomyopathy 10 [RCV002515080]|not provided [RCV000158908]|not specified [RCV000223748] | likely pathogenic|uncertain significance | 12 | 110911090 | 110911090 | Human | 1 | name , alternate_id |
| 9833337 | CV179423 | single nucleotide variant | NM_000432.4(MYL2):c.470A>G (p.His157Arg) | Hypertrophic cardiomyopathy 10 [RCV001061872]|not provided [RCV000766481]|not specified [RCV000158933] | uncertain significance | 12 | 110911108 | 110911108 | Human | 1 | name , alternate_id |
| 9833336 | CV179424 | single nucleotide variant | NM_000432.4(MYL2):c.358C>G (p.Arg120Gly) | Cardiomyopathy [RCV001180082]|Cardiovascular phenotype [RCV003352788]|Hypertrophic cardiomyopathy 10 [RCV001063811]|Hypertrophic cardiomyopathy 10 [RCV002484988]|Hypertrophic cardiomyopathy [RCV003998376]|not provided [RCV000172053] | likely pathogenic|uncertain significance | 12 | 110913140 | 110913140 | Human | 6 | name , alternate_id |
| 9833322 | CV179425 | single nucleotide variant | NM_000432.4(MYL2):c.355G>A (p.Val119Ile) | Cardiomyopathy [RCV001170435]|Cardiovascular phenotype [RCV003298187]|Hypertrophic cardiomyopathy 10 [RCV001227375]|not provided [RCV000766479]|not specified [RCV000216431] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 110913143 | 110913143 | Human | 3 | name , alternate_id |
| 9833335 | CV179426 | single nucleotide variant | NM_000432.4(MYL2):c.308T>G (p.Phe103Cys) | Cardiomyopathy [RCV001184261]|Cardiovascular phenotype [RCV002321668]|Hypertrophic cardiomyopathy 10 [RCV001086360]|Hypertrophic cardiomyopathy [RCV003998375]|not provided [RCV000172054]|not specified [RCV004017443] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 110913291 | 110913291 | Human | 5 | name , alternate_id |
| 155704035 | CV1798048 | single nucleotide variant | NM_000432.4(MYL2):c.442G>A (p.Gly148Ser) | Cardiovascular phenotype [RCV002333965] | uncertain significance | 12 | 110911136 | 110911136 | Human | | name |
| 155729214 | CV1808345 | single nucleotide variant | NM_000432.4(MYL2):c.448T>G (p.Leu150Val) | Cardiovascular phenotype [RCV002328619] | uncertain significance | 12 | 110911130 | 110911130 | Human | | name |
| 155719045 | CV1809045 | single nucleotide variant | NM_000432.4(MYL2):c.476T>C (p.Ile159Thr) | Cardiovascular phenotype [RCV002337726]|Hypertrophic cardiomyopathy 10 [RCV003096459] | uncertain significance | 12 | 110911102 | 110911102 | Human | 1 | name , alternate_id |
| 155975993 | CV1886022 | single nucleotide variant | NM_000432.4(MYL2):c.403G>T (p.Val135Phe) | Hypertrophic cardiomyopathy 10 [RCV003075417]|Hypertrophic cardiomyopathy [RCV004808414] | uncertain significance | 12 | 110911175 | 110911175 | Human | 3 | name , alternate_id |
| 156285106 | CV1897060 | single nucleotide variant | NM_000432.4(MYL2):c.431C>T (p.Pro144Leu) | Hypertrophic cardiomyopathy 10 [RCV003087256]|Hypertrophic cardiomyopathy [RCV004009432] | uncertain significance | 12 | 110911147 | 110911147 | Human | 3 | name , alternate_id |
| 10046375 | CV189892 | single nucleotide variant | NM_000432.4(MYL2):c.433G>A (p.Asp145Asn) | Arrhythmogenic right ventricular cardiomyopathy [RCV000852437]|Cardiomyopathy [RCV001191379]|Cardiovascular phenotype [RCV002326947]|Hypertrophic cardiomyopathy 10 [RCV000795137]|Hypertrophic cardiomyopathy [RCV003995672]|not provided [RCV000172052]|not specified [RCV003323424] | uncertain significance | 12 | 110911145 | 110911145 | Human | 6 | name , alternate_id |
| 155968931 | CV1968038 | single nucleotide variant | NM_000432.4(MYL2):c.419C>T (p.Ala140Val) | Hypertrophic cardiomyopathy 10 [RCV002617089] | uncertain significance | 12 | 110911159 | 110911159 | Human | 1 | name , alternate_id |
| 156339471 | CV1973997 | single nucleotide variant | NM_000432.4(MYL2):c.409C>T (p.Gln137Ter) | Hypertrophic cardiomyopathy 10 [RCV002601203] | uncertain significance | 12 | 110911169 | 110911169 | Human | 1 | name , alternate_id |
| 156047668 | CV1996667 | single nucleotide variant | NM_000432.4(MYL2):c.389T>A (p.Phe130Tyr) | Hypertrophic cardiomyopathy 10 [RCV002659260] | uncertain significance | 12 | 110913109 | 110913109 | Human | 1 | name , alternate_id |
| 156247198 | CV2044782 | single nucleotide variant | NM_000432.4(MYL2):c.391T>A (p.Ser131Thr) | Cardiomyopathy [RCV003533300]|Hypertrophic cardiomyopathy 10 [RCV002805883] | uncertain significance | 12 | 110913107 | 110913107 | Human | 3 | name , alternate_id |
| 156284166 | CV2051648 | single nucleotide variant | NM_000432.4(MYL2):c.493A>G (p.Lys165Glu) | Hypertrophic cardiomyopathy 10 [RCV002832945] | uncertain significance | 12 | 110911085 | 110911085 | Human | 1 | name , alternate_id |
| 155938434 | CV2135199 | single nucleotide variant | NM_000432.4(MYL2):c.424T>A (p.Phe142Ile) | Hypertrophic cardiomyopathy 10 [RCV002993891]|Hypertrophic cardiomyopathy [RCV004007743] | uncertain significance | 12 | 110911154 | 110911154 | Human | 3 | name , alternate_id |
| 156300838 | CV2146128 | single nucleotide variant | NM_000432.4(MYL2):c.436G>C (p.Val146Leu) | Hypertrophic cardiomyopathy 10 [RCV003010376] | uncertain significance | 12 | 110911142 | 110911142 | Human | 1 | name , alternate_id |
| 156020294 | CV2270246 | single nucleotide variant | NM_000432.4(MYL2):c.476T>G (p.Ile159Ser) | Cardiovascular phenotype [RCV004135465] | uncertain significance | 12 | 110911102 | 110911102 | Human | | name |
| 243059093 | CV2416145 | single nucleotide variant | NM_000432.4(MYL2):c.455A>G (p.Tyr152Cys) | not provided [RCV003149205] | uncertain significance | 12 | 110911123 | 110911123 | Human | | name |
| 11547461 | CV258711 | single nucleotide variant | NM_000432.4(MYL2):c.483C>A (p.His161Gln) | Cardiovascular phenotype [RCV000247783]|Hypertrophic cardiomyopathy 10 [RCV001209885]|not provided [RCV001726080] | pathogenic|uncertain significance | 12 | 110911095 | 110911095 | Human | 1 | name , alternate_id |
| 329955212 | CV2671153 | single nucleotide variant | NM_000432.4(MYL2):c.359G>C (p.Arg120Pro) | not specified [RCV003236426] | uncertain significance | 12 | 110913139 | 110913139 | Human | | name |
| 401718651 | CV2732826 | single nucleotide variant | NM_000432.4(MYL2):c.298C>T (p.Leu100Phe) | Cardiovascular phenotype [RCV003311103] | uncertain significance | 12 | 110913301 | 110913301 | Human | | name |
| 401870360 | CV2749351 | single nucleotide variant | NM_000432.4(MYL2):c.454T>C (p.Tyr152His) | not provided [RCV003332479] | uncertain significance | 12 | 110911124 | 110911124 | Human | | name |
| 401855307 | CV2753833 | single nucleotide variant | NM_000432.4(MYL2):c.479C>A (p.Thr160Asn) | Cardiovascular phenotype [RCV003339196] | uncertain significance | 12 | 110911099 | 110911099 | Human | | name |
| 401943426 | CV2840039 | single nucleotide variant | NM_000432.4(MYL2):c.421G>T (p.Ala141Ser) | not provided [RCV003456826] | uncertain significance | 12 | 110911157 | 110911157 | Human | | name |
| 402507571 | CV3044083 | single nucleotide variant | NM_000432.4(MYL2):c.426C>A (p.Phe142Leu) | Hypertrophic cardiomyopathy 10 [RCV003628971] | uncertain significance | 12 | 110911152 | 110911152 | Human | 1 | name , alternate_id |
| 402518053 | CV3076909 | single nucleotide variant | NM_000432.4(MYL2):c.337G>T (p.Val113Leu) | Hypertrophic cardiomyopathy 10 [RCV003630007] | uncertain significance | 12 | 110913262 | 110913262 | Human | 1 | name , alternate_id |
| 405716907 | CV3230726 | single nucleotide variant | NM_000432.4(MYL2):c.419C>A (p.Ala140Asp) | Hypertrophic cardiomyopathy [RCV004012312] | uncertain significance | 12 | 110911159 | 110911159 | Human | 2 | name |
| 405727742 | CV3230923 | single nucleotide variant | NM_000432.4(MYL2):c.457A>G (p.Lys153Glu) | Hypertrophic cardiomyopathy [RCV004013504] | uncertain significance | 12 | 110911121 | 110911121 | Human | 2 | name |
| 405721929 | CV3231882 | single nucleotide variant | NM_000432.4(MYL2):c.406G>A (p.Asp136Asn) | Hypertrophic cardiomyopathy [RCV004012904] | uncertain significance | 12 | 110911172 | 110911172 | Human | 2 | name |
| 405703564 | CV3233541 | single nucleotide variant | NM_000432.4(MYL2):c.395A>T (p.Lys132Met) | Hypertrophic cardiomyopathy [RCV004009998] | uncertain significance | 12 | 110913103 | 110913103 | Human | 2 | name |
| 405749311 | CV3233789 | single nucleotide variant | NM_000432.4(MYL2):c.437T>C (p.Val146Ala) | Hypertrophic cardiomyopathy [RCV004016017] | uncertain significance | 12 | 110911141 | 110911141 | Human | 2 | name |
| 405743676 | CV3234295 | single nucleotide variant | NM_000432.4(MYL2):c.311A>G (p.Lys104Arg) | Hypertrophic cardiomyopathy [RCV004015353] | uncertain significance | 12 | 110913288 | 110913288 | Human | 2 | name |
| 11647836 | CV330565 | single nucleotide variant | NM_000432.4(MYL2):c.302A>G (p.Asn101Ser) | Cardiomyopathy [RCV001181051]|Hypertrophic cardiomyopathy 10 [RCV000278835] | uncertain significance | 12 | 110913297 | 110913297 | Human | 3 | name , alternate_id |
| 405686475 | CV3388887 | single nucleotide variant | NM_000432.4(MYL2):c.352T>A (p.Tyr118Asn) | Cardiovascular phenotype [RCV004518443] | uncertain significance | 12 | 110913247 | 110913247 | Human | | name |
| 597917594 | CV3767875 | single nucleotide variant | NM_000432.4(MYL2):c.450G>T (p.Leu150Phe) | Hypertrophic cardiomyopathy 10 [RCV005114676] | uncertain significance | 12 | 110911128 | 110911128 | Human | 1 | name , alternate_id |
| 597869566 | CV3771896 | single nucleotide variant | NM_000432.4(MYL2):c.483C>G (p.His161Gln) | Hypertrophic cardiomyopathy 10 [RCV005122406] | uncertain significance | 12 | 110911095 | 110911095 | Human | 1 | name , alternate_id |
| 597914395 | CV3778877 | single nucleotide variant | NM_000432.4(MYL2):c.382G>A (p.Glu128Lys) | Hypertrophic cardiomyopathy 10 [RCV005129222] | uncertain significance | 12 | 110913116 | 110913116 | Human | 1 | name , alternate_id |
| 597910567 | CV3782153 | single nucleotide variant | NM_000432.4(MYL2):c.353A>C (p.Tyr118Ser) | Hypertrophic cardiomyopathy 10 [RCV005128646] | uncertain significance | 12 | 110913246 | 110913246 | Human | 1 | name , alternate_id |
| 597970718 | CV3802060 | single nucleotide variant | NM_000432.4(MYL2):c.337G>C (p.Val113Leu) | Hypertrophic cardiomyopathy 10 [RCV005141852] | uncertain significance | 12 | 110913262 | 110913262 | Human | 1 | name , alternate_id |
| 597896338 | CV3854047 | single nucleotide variant | NM_000432.4(MYL2):c.394A>G (p.Lys132Glu) | Hypertrophic cardiomyopathy 10 [RCV005201331] | uncertain significance | 12 | 110913104 | 110913104 | Human | 1 | name , alternate_id |
| 597900673 | CV3855088 | single nucleotide variant | NM_000432.4(MYL2):c.491A>T (p.Glu164Val) | Hypertrophic cardiomyopathy 10 [RCV005201996] | uncertain significance | 12 | 110911087 | 110911087 | Human | 1 | name , alternate_id |
| 12892497 | CV398437 | single nucleotide variant | NM_000432.4(MYL2):c.430C>A (p.Pro144Thr) | Hypertrophic cardiomyopathy 10 [RCV000473250]|Hypertrophic cardiomyopathy [RCV004000800] | uncertain significance | 12 | 110911148 | 110911148 | Human | 3 | name , alternate_id |
| 12883325 | CV398957 | single nucleotide variant | NM_000432.4(MYL2):c.380C>T (p.Ala127Val) | Cardiomyopathy [RCV005402923]|Cardiovascular phenotype [RCV003298489]|Hypertrophic cardiomyopathy 10 [RCV000461391]|Hypertrophic cardiomyopathy [RCV004000801]|not provided [RCV002466505] | uncertain significance | 12 | 110913118 | 110913118 | Human | 5 | name , alternate_id |
| 598190112 | CV3994053 | single nucleotide variant | NM_000432.4(MYL2):c.341T>C (p.Leu114Pro) | Cardiovascular phenotype [RCV005373991] | uncertain significance | 12 | 110913258 | 110913258 | Human | | name |
| 598273632 | CV3994054 | single nucleotide variant | NM_000432.4(MYL2):c.349G>A (p.Asp117Asn) | Cardiovascular phenotype [RCV005389755] | uncertain significance | 12 | 110913250 | 110913250 | Human | | name |
| 616934597 | CV4009702 | single nucleotide variant | NM_000432.4(MYL2):c.428C>G (p.Pro143Arg) | Cardiomyopathy [RCV005400860] | uncertain significance | 12 | 110911150 | 110911150 | Human | 2 | name |
| 8602575 | CV40429 | single nucleotide variant | NM_000432.4(MYL2):c.497A>T (p.Asp166Val) | Cardiovascular phenotype [RCV005403722]|Hypertrophic cardiomyopathy 10 [RCV001852571]|not provided [RCV000024460] | pathogenic|likely pathogenic|uncertain significance|not provided | 12 | 110911081 | 110911081 | Human | 1 | name , alternate_id |
| 8602576 | CV40430 | single nucleotide variant | NM_000432.4(MYL2):c.310A>G (p.Lys104Glu) | Cardiomyopathy [RCV003531906]|Hypertrophic cardiomyopathy 10 [RCV001852572]|not provided [RCV000024461] | uncertain significance|not provided | 12 | 110913289 | 110913289 | Human | 3 | name , alternate_id |
| 12898866 | CV408523 | single nucleotide variant | NM_000432.4(MYL2):c.376C>G (p.Gln126Glu) | Cardiomyopathy [RCV001170434]|Hypertrophic cardiomyopathy 10 [RCV001064739]|Hypertrophic cardiomyopathy 10 [RCV002481532]|not provided [RCV000478881] | uncertain significance | 12 | 110913122 | 110913122 | Human | 3 | name , alternate_id |
| 13208193 | CV424565 | single nucleotide variant | NM_000432.4(MYL2):c.487G>C (p.Glu163Gln) | Hypertrophic cardiomyopathy 10 [RCV000496070] | uncertain significance | 12 | 110911091 | 110911091 | Human | 1 | name , alternate_id |
| 13481321 | CV444913 | single nucleotide variant | NM_000432.4(MYL2):c.366G>T (p.Met122Ile) | Cardiovascular phenotype [RCV002456008]|Hypertrophic cardiomyopathy 10 [RCV005004213]|Hypertrophic cardiomyopathy [RCV004003615]|not provided [RCV000521473] | uncertain significance | 12 | 110913132 | 110913132 | Human | 4 | name , alternate_id |
| 8602990 | CV45307 | single nucleotide variant | NM_000432.4(MYL2):c.359G>A (p.Arg120Gln) | Cardiomyopathy [RCV001185060]|Cardiovascular phenotype [RCV000618181]|Hypertrophic cardiomyopathy 10 [RCV000228967]|Hypertrophic cardiomyopathy 10 [RCV002482922]|Hypertrophic cardiomyopathy [RCV003996131]|Primary familial hypertrophic cardiomyopathy [RCV000030324]|not provided [RCV000994981]|not spe cified [RCV000036398] | likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 110913139 | 110913139 | Human | 8 | name , alternate_id |
| 13470804 | CV462414 | single nucleotide variant | NM_000432.4(MYL2):c.322C>T (p.Pro108Ser) | Hypertrophic cardiomyopathy 10 [RCV000546425] | uncertain significance | 12 | 110913277 | 110913277 | Human | 1 | name , alternate_id |
| 13525765 | CV511108 | single nucleotide variant | NM_000432.4(MYL2):c.436G>A (p.Val146Met) | Cardiomyopathy [RCV001180587]|Cardiovascular phenotype [RCV002331095]|Congenital heart disease [RCV001568357]|Hypertrophic cardiomyopathy 10 [RCV001855290]|Hypertrophic cardiomyopathy [RCV004002748]|Primary familial hypertrophic cardiomyopathy [RCV000623019]|not specified [RCV004702202] | pathogenic|uncertain significance | 12 | 110911142 | 110911142 | Human | 8 | name , alternate_id |
| 8606288 | CV52635 | single nucleotide variant | NM_000432.4(MYL2):c.313G>A (p.Val105Met) | Hypertrophic cardiomyopathy 10 [RCV003514305]|Hypertrophic cardiomyopathy [RCV003996222]|not specified [RCV000036391] | uncertain significance | 12 | 110913286 | 110913286 | Human | 3 | name , alternate_id |
| 8606294 | CV52641 | single nucleotide variant | NM_000432.4(MYL2):c.358C>T (p.Arg120Trp) | Cardiomyopathy [RCV000770393]|Hypertrophic cardiomyopathy 10 [RCV001056367]|Hypertrophic cardiomyopathy [RCV003996226]|not provided [RCV003133123]|not specified [RCV000036397] | likely pathogenic|uncertain significance | 12 | 110913140 | 110913140 | Human | 5 | name , alternate_id |
| 8606296 | CV52643 | single nucleotide variant | NM_000432.4(MYL2):c.374C>T (p.Thr125Met) | Cardiomyopathy [RCV000157370]|Cardiovascular phenotype [RCV003362671]|Hypertrophic cardiomyopathy 10 [RCV001238992]|Hypertrophic cardiomyopathy [RCV003996227]|not provided [RCV000766480]|not specified [RCV000036400] | likely pathogenic|uncertain significance | 12 | 110913124 | 110913124 | Human | 5 | name , alternate_id |
| 8606298 | CV52645 | single nucleotide variant | NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) | Cardiomyopathy [RCV000776290]|Cardiovascular phenotype [RCV000248445]|Dilated cardiomyopathy 1S [RCV000491626]|Hypertrophic cardiomyopathy 10 [RCV000154179]|Hypertrophic cardiomyopathy 10 [RCV005003430]|Hypertrophic cardiomyopathy [RCV000036404]|Primary dilated cardiomyopathy [RCV000678725]|not prov ided [RCV000119379] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided | 12 | 110913097 | 110913097 | Human | 8 | name , alternate_id |
| 8606301 | CV52648 | single nucleotide variant | NM_000432.4(MYL2):c.459G>C (p.Lys153Asn) | Cardiomyopathy [RCV001189706]|Cardiovascular phenotype [RCV003162315]|Hypertrophic cardiomyopathy 10 [RCV000544363]|Hypertrophic cardiomyopathy [RCV003996229]|not provided [RCV001552678]|not specified [RCV000036407] | uncertain significance | 12 | 110911119 | 110911119 | Human | 5 | name , alternate_id |
| 8606302 | CV52649 | single nucleotide variant | NM_000432.4(MYL2):c.485G>A (p.Gly162Glu) | Cardiomyopathy [RCV003486556]|Hypertrophic cardiomyopathy [RCV000036408] | pathogenic|likely pathogenic|uncertain significance | 12 | 110911093 | 110911093 | Human | 4 | name |
| 8606303 | CV52650 | single nucleotide variant | NM_000432.4(MYL2):c.488A>C (p.Glu163Ala) | Hypertrophic cardiomyopathy 10 [RCV000639678]|Hypertrophic cardiomyopathy [RCV000036409]|not specified [RCV001193582] | likely pathogenic|uncertain significance | 12 | 110911090 | 110911090 | Human | 3 | name , alternate_id |
| 13607746 | CV526918 | single nucleotide variant | NM_000432.4(MYL2):c.374C>A (p.Thr125Lys) | Hypertrophic cardiomyopathy 10 [RCV000639676] | uncertain significance | 12 | 110913124 | 110913124 | Human | 1 | name , alternate_id |
| 13607744 | CV527233 | single nucleotide variant | NM_000432.4(MYL2):c.427C>A (p.Pro143Thr) | Hypertrophic cardiomyopathy 10 [RCV000639675]|not provided [RCV002223234] | uncertain significance | 12 | 110911151 | 110911151 | Human | 1 | name , alternate_id |
| 13607740 | CV527238 | single nucleotide variant | NM_000432.4(MYL2):c.418G>A (p.Ala140Thr) | Cardiovascular phenotype [RCV004639300]|Hypertrophic cardiomyopathy 10 [RCV000639672]|Hypertrophic cardiomyopathy [RCV004003898] | likely benign|uncertain significance | 12 | 110911160 | 110911160 | Human | 3 | name , alternate_id |
| 13811022 | CV567664 | single nucleotide variant | NM_000432.4(MYL2):c.347C>T (p.Ala116Val) | Cardiomyopathy [RCV001190452]|Cardiovascular phenotype [RCV002334270]|Hypertrophic cardiomyopathy 10 [RCV000688527]|Hypertrophic cardiomyopathy [RCV004004283]|not provided [RCV001775958] | uncertain significance | 12 | 110913252 | 110913252 | Human | 5 | name , alternate_id |
| 14689036 | CV615034 | single nucleotide variant | NM_000432.4(MYL2):c.435C>G (p.Asp145Glu) | Cardiomyopathy [RCV000770389]|Hypertrophic cardiomyopathy [RCV003999940] | uncertain significance | 12 | 110911143 | 110911143 | Human | 4 | name |
| 14689040 | CV615037 | single nucleotide variant | NM_000432.4(MYL2):c.304G>A (p.Ala102Thr) | Cardiomyopathy [RCV000770394]|Cardiovascular phenotype [RCV002442576]|Hypertrophic cardiomyopathy 10 [RCV002536609]|not provided [RCV004588167] | uncertain significance | 12 | 110913295 | 110913295 | Human | 3 | name , alternate_id |
| 14691923 | CV617889 | single nucleotide variant | NM_000432.4(MYL2):c.430C>G (p.Pro144Ala) | Cardiomyopathy [RCV000772853]|Cardiovascular phenotype [RCV004027244]|Hypertrophic cardiomyopathy 10 [RCV000809944]|Hypertrophic cardiomyopathy [RCV003999989] | uncertain significance | 12 | 110911148 | 110911148 | Human | 5 | name , alternate_id |
| 14731172 | CV640634 | single nucleotide variant | NM_000432.4(MYL2):c.469C>T (p.His157Tyr) | Cardiovascular phenotype [RCV002332690]|Hypertrophic cardiomyopathy 10 [RCV000817717]|not provided [RCV003226983]|not specified [RCV005056598] | uncertain significance | 12 | 110911109 | 110911109 | Human | 1 | name , alternate_id |
| 26915496 | CV839314 | single nucleotide variant | NM_000432.4(MYL2):c.431C>G (p.Pro144Arg) | Cardiovascular phenotype [RCV004649405]|Hypertrophic cardiomyopathy 10 [RCV001039065]|not provided [RCV001597243] | uncertain significance | 12 | 110911147 | 110911147 | Human | 1 | name , alternate_id |
| 26896850 | CV839315 | single nucleotide variant | NM_000432.4(MYL2):c.431C>A (p.Pro144His) | Cardiomyopathy [RCV003532371]|Hypertrophic cardiomyopathy 10 [RCV001064899] | uncertain significance | 12 | 110911147 | 110911147 | Human | 3 | name , alternate_id |
| 26917842 | CV839316 | single nucleotide variant | NM_000432.4(MYL2):c.413T>A (p.Met138Lys) | Cardiomyopathy [RCV001189350]|Hypertrophic cardiomyopathy 10 [RCV001042334]|Hypertrophic cardiomyopathy [RCV004004747]|not provided [RCV003117716] | uncertain significance | 12 | 110911165 | 110911165 | Human | 5 | name , alternate_id |
| 26890955 | CV839317 | single nucleotide variant | NM_000432.4(MYL2):c.305C>T (p.Ala102Val) | Cardiovascular phenotype [RCV002445313]|Hypertrophic cardiomyopathy 10 [RCV001059953] | uncertain significance | 12 | 110913294 | 110913294 | Human | 1 | name , alternate_id |
| 28873244 | CV869285 | single nucleotide variant | NM_000432.4(MYL2):c.359G>T (p.Arg120Leu) | Hypertrophic cardiomyopathy 10 [RCV001114909] | uncertain significance | 12 | 110913139 | 110913139 | Human | 1 | name , alternate_id |
| 34888787 | CV911891 | single nucleotide variant | NM_000432.4(MYL2):c.475A>G (p.Ile159Val) | Cardiomyopathy [RCV001181002]|Hypertrophic cardiomyopathy 10 [RCV001876013] | uncertain significance | 12 | 110911103 | 110911103 | Human | 3 | name , alternate_id |
| 34899128 | CV911893 | single nucleotide variant | NM_000432.4(MYL2):c.472A>G (p.Ile158Val) | Cardiomyopathy [RCV001187825]|Hypertrophic cardiomyopathy 10 [RCV001367322] | uncertain significance | 12 | 110911106 | 110911106 | Human | 3 | name , alternate_id |
| 34898998 | CV911896 | single nucleotide variant | NM_000432.4(MYL2):c.449T>C (p.Leu150Ser) | Cardiomyopathy [RCV001187726] | uncertain significance | 12 | 110911129 | 110911129 | Human | 2 | name |
| 34898423 | CV911899 | single nucleotide variant | NM_000432.4(MYL2):c.433G>T (p.Asp145Tyr) | Cardiomyopathy [RCV001187215] | uncertain significance | 12 | 110911145 | 110911145 | Human | 2 | name |
| 34895085 | CV911900 | single nucleotide variant | NM_000432.4(MYL2):c.430C>T (p.Pro144Ser) | Cardiomyopathy [RCV001177828]|Cardiovascular phenotype [RCV005384957]|Hypertrophic cardiomyopathy 10 [RCV003629152]|Hypertrophic cardiomyopathy [RCV004006417]|not provided [RCV001760129] | uncertain significance | 12 | 110911148 | 110911148 | Human | 5 | name , alternate_id |
| 34890217 | CV911901 | single nucleotide variant | NM_000432.4(MYL2):c.341T>G (p.Leu114Arg) | Cardiomyopathy [RCV001181966] | uncertain significance | 12 | 110913258 | 110913258 | Human | 2 | name |
| 34889453 | CV911902 | single nucleotide variant | NM_000432.4(MYL2):c.310A>C (p.Lys104Gln) | Cardiomyopathy [RCV001181462] | uncertain significance | 12 | 110913289 | 110913289 | Human | 2 | name |
| 34899460 | CV911905 | single nucleotide variant | NM_000432.4(MYL2):c.298C>G (p.Leu100Val) | Cardiomyopathy [RCV001188416]|Hypertrophic cardiomyopathy 10 [RCV002068502]|Hypertrophic cardiomyopathy [RCV004010286] | likely benign|uncertain significance | 12 | 110913301 | 110913301 | Human | 5 | name , alternate_id |
| 38489419 | CV926465 | single nucleotide variant | NM_000432.4(MYL2):c.479C>G (p.Thr160Ser) | Cardiovascular phenotype [RCV002339586]|Hypertrophic cardiomyopathy 10 [RCV001221689]|not provided [RCV001563131] | uncertain significance | 12 | 110911099 | 110911099 | Human | 1 | name , alternate_id |
| 38473850 | CV926466 | deletion | NM_000432.4(MYL2):c.51_61del (p.Phe18fs) | Hypertrophic cardiomyopathy 10 [RCV001214509]|Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy [RCV005208158]|not provided [RCV001780132] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 12 | 110919136 | 110919146 | Human | 2 | name , alternate_id |
| 38488828 | CV935918 | single nucleotide variant | NM_000432.4(MYL2):c.497A>C (p.Asp166Ala) | Hypertrophic cardiomyopathy 10 [RCV001209931] | uncertain significance | 12 | 110911081 | 110911081 | Human | 1 | name , alternate_id |
| 38467724 | CV935919 | single nucleotide variant | NM_000432.4(MYL2):c.422C>A (p.Ala141Asp) | Cardiomyopathy [RCV001806050]|Hypertrophic cardiomyopathy 10 [RCV001213004] | uncertain significance | 12 | 110911156 | 110911156 | Human | 3 | name , alternate_id |
| 151790716 | CV1515385 | deletion | NM_000432.4(MYL2):c.197_203del (p.Ile66fs) | Hypertrophic cardiomyopathy 10 [RCV002027195] | uncertain significance | 12 | 110914257 | 110914263 | Human | 1 | name , alternate_id |
| 151783405 | CV1432780 | deletion | NM_000432.4(MYL2):c.316_319del (p.Phe106fs) | Cardiomyopathy [RCV003533068]|Hypertrophic cardiomyopathy 10 [RCV001972290] | uncertain significance | 12 | 110913280 | 110913283 | Human | 3 | name , alternate_id |
| 13816148 | CV565053 | microsatellite | NM_000432.4(MYL2):c.473TCA[3] (p.Ile159dup) | Hypertrophic cardiomyopathy 10 [RCV000706166] | uncertain significance | 12 | 110911099 | 110911100 | Human | | name , alternate_id |
| 14689035 | CV615033 | microsatellite | NM_000432.4(MYL2):c.491_495del (p.Glu164fs) | Cardiomyopathy [RCV000770388] | likely pathogenic | 12 | 110911083 | 110911087 | Human | | name |
| 14689038 | CV615035 | deletion | NM_000432.4(MYL2):c.431_432del (p.Pro144fs) | Cardiomyopathy [RCV000770390]|Cardiovascular phenotype [RCV003166034]|Congenital myopathy with fiber type disproportion [RCV001507317]|Hypertrophic cardiomyopathy 10 [RCV001089865]|Hypertrophic cardiomyopathy [RCV003999941]|Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy [RCV0015537 94] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 12 | 110911146 | 110911147 | Human | 8 | name , alternate_id |
| 34898899 | CV911903 | deletion | NM_000432.4(MYL2):c.299_309del (p.Leu100fs) | Cardiomyopathy [RCV001187629]|Cardiovascular phenotype [RCV003284028]|Hypertrophic cardiomyopathy 10 [RCV001876197] | uncertain significance | 12 | 110913290 | 110913300 | Human | 3 | name , alternate_id |
| 9688937 | CV175538 | indel | NM_000432.4(MYL2):c.45_46delinsT (p.Asn16fs) | Hypertrophic cardiomyopathy 10 [RCV003514314]|not specified [RCV000154326] | likely benign|uncertain significance | 12 | 110919151 | 110919152 | Human | | name , alternate_id |
| 155739607 | CV1799099 | deletion | NM_000432.4(MYL2):c.493_495del (p.Lys165del) | Cardiovascular phenotype [RCV002342634] | uncertain significance | 12 | 110911083 | 110911085 | Human | | name |
| 155794915 | CV1861193 | deletion | NM_000432.4(MYL2):c.485_487del (p.Gly162del) | Hypertrophic cardiomyopathy [RCV002468910] | likely pathogenic | 12 | 110911091 | 110911093 | Human | 2 | name |
| 156373903 | CV2190763 | duplication | NM_000432.4(MYL2):c.341_348dup (p.Asp117Ter) | Hypertrophic cardiomyopathy 10 [RCV003049937] | uncertain significance | 12 | 110913250 | 110913251 | Human | 1 | name , alternate_id |
| 34895362 | CV911897 | insertion | NM_000432.4(MYL2):c.441_442insTCACT (p.Gly148fs) | Cardiomyopathy [RCV001178042] | uncertain significance | 12 | 110911136 | 110911137 | Human | 2 | name |
| 596943109 | CV3546503 | insertion | NM_000432.4(MYL2):c.396_397insTCA (p.Lys132_Glu133insSer) | Hypertrophic cardiomyopathy [RCV004807627] | uncertain significance | 12 | 110913101 | 110913102 | Human | 2 | name |
| 405702056 | CV3233311 | insertion | NM_000432.4(MYL2):c.425_426insTGGTCAACA (p.Phe142_Pro143insGlyGlnHis) | Hypertrophic cardiomyopathy [RCV004009767] | uncertain significance | 12 | 110911152 | 110911153 | Human | 2 | name |
| 596943108 | CV3546502 | insertion | NM_000432.4(MYL2):c.399_400insTCTCACTCT (p.Glu133_Glu134insSerHisSer) | Hypertrophic cardiomyopathy [RCV004807626] | uncertain significance | 12 | 110913098 | 110913099 | Human | 2 | name |
| 596943111 | CV3546504 | insertion | NM_000432.4(MYL2):c.395_396insAGTGCTAGGATTACAGGTGTGAGCCAACATGCCCGTCCTTTTTTTTTTTTTTTGA (p.Lys132_Glu133insValLeuGlyLeuGlnValTer) | Hypertrophic cardiomyopathy [RCV004807628] | uncertain significance | 12 | 110913102 | 110913103 | Human | 2 | name |
| 126768427 | CV1022329 | deletion | NC_000012.11:g.(?_111348861)_(111348999_?)del | Hypertrophic cardiomyopathy 10 [RCV001343350] | uncertain significance | | | | Human | 1 | alternate_id |
| 156441171 | CV1949309 | deletion | NC_000012.11:g.(?_111348881)_(111358333_?)del | Hypertrophic cardiomyopathy 10 [RCV003111222] | uncertain significance | | | | Human | 1 | alternate_id |
| 156441172 | CV1949310 | deletion | NC_000012.11:g.(?_111356888)_(111358333_?)del | Hypertrophic cardiomyopathy 10 [RCV003111223] | uncertain significance | | | | Human | 1 | alternate_id |
| 156441173 | CV1949311 | duplication | NC_000012.11:g.(?_111348881)_(111358333_?)dup | Hypertrophic cardiomyopathy 10 [RCV003111224] | uncertain significance | | | | Human | 1 | alternate_id |
| 156441174 | CV1949312 | duplication | NC_000012.11:g.(?_111350880)_(111352114_?)dup | Hypertrophic cardiomyopathy 10 [RCV003111225] | uncertain significance | | | | Human | 1 | alternate_id |
| 12887523 | CV398419 | deletion | NC_000012.12:g.(?_110910819)_(110911175_?)del | Hypertrophic cardiomyopathy 10 [RCV000469216] | pathogenic | 12 | 110910819 | 110911175 | Human | 1 | alternate_id |