| 598128431 | CV3887636 | single nucleotide variant | NM_023083.4(CAPN10):c.141+2T>A | not provided [RCV005243809] | uncertain significance | 2 | 240587054 | 240587054 | Human | | name |
| 401918405 | CV2523077 | single nucleotide variant | NM_023083.4(CAPN10):c.1989+1G>A | CAPN10-related disorder [RCV003388180] | pathogenic | 2 | 240598398 | 240598398 | Human | | name , trait , alternate_id |
| 405275002 | CV3199900 | single nucleotide variant | NM_023083.4(CAPN10):c.1990-7T>C | CAPN10-related disorder [RCV004554500] | benign | 2 | 240598644 | 240598644 | Human | | name , trait , alternate_id |
| 8558472 | CV20132 | single nucleotide variant | NM_023083.4(CAPN10):c.471-176G>A | Type 2 diabetes mellitus 1, susceptibility to [RCV001799496] | risk factor | 2 | 240591757 | 240591757 | Human | 1 | name |
| 8558475 | CV20135 | single nucleotide variant | NM_023083.4(CAPN10):c.471-187T>C | Polycystic ovary syndrome, susceptibility to [RCV000005402]|Type 2 diabetes mellitus 1, susceptibility to [RCV001799499] | risk factor | 2 | 240591746 | 240591746 | Human | 2 | name |
| 15129117 | CV787112 | single nucleotide variant | NM_023083.4(CAPN10):c.1944-10C>G | not provided [RCV000980824] | likely benign | 2 | 240598342 | 240598342 | Human | | name |
| 407474953 | CV3424606 | single nucleotide variant | NM_023083.4(CAPN10):c.8C>T (p.Ala3Val) | Inborn genetic diseases [RCV004600755] | uncertain significance | 2 | 240586919 | 240586919 | Human | 1 | name |
| 156075996 | CV2321840 | single nucleotide variant | NM_023083.4(CAPN10):c.25C>T (p.Pro9Ser) | Inborn genetic diseases [RCV002925890] | uncertain significance | 2 | 240586936 | 240586936 | Human | 1 | name |
| 15178297 | CV697467 | variation | NM_023083.4(CAPN10):c.1996= (p.Ile666=) | not provided [RCV000951246] | benign | 2 | 240598657 | 240598657 | Human | | name |
| 15192717 | CV733320 | single nucleotide variant | NM_023083.4(CAPN10):c.243G>A (p.Ala81=) | not provided [RCV000910625] | likely benign | 2 | 240589444 | 240589444 | Human | | name |
| 126912696 | CV1037169 | single nucleotide variant | NM_023083.4(CAPN10):c.960G>A (p.Pro320=) | not provided [RCV001356734] | uncertain significance | 2 | 240594672 | 240594672 | Human | | name |
| 150466509 | CV1277417 | single nucleotide variant | NM_023083.4(CAPN10):c.711C>T (p.Phe237=) | not provided [RCV001710712] | benign | 2 | 240593928 | 240593928 | Human | | name |
| 8558473 | CV20133 | duplication | NM_023083.4(CAPN10):c.997+136_998-148dup | Type 2 diabetes mellitus 1, susceptibility to [RCV001799497] | risk factor | 2 | 240594824 | 240594825 | Human | 1 | name |
| 405258603 | CV3203938 | single nucleotide variant | NM_023083.4(CAPN10):c.459G>A (p.Lys153=) | CAPN10-related disorder [RCV004552709] | likely benign | 2 | 240591000 | 240591000 | Human | | name , trait , alternate_id |
| 405283439 | CV3217149 | single nucleotide variant | NM_023083.4(CAPN10):c.600A>G (p.Pro200=) | CAPN10-related disorder [RCV004554495] | benign | 2 | 240592062 | 240592062 | Human | | name , trait , alternate_id |
| 407474960 | CV3424608 | single nucleotide variant | NM_023083.4(CAPN10):c.42C>G (p.Phe14Leu) | Inborn genetic diseases [RCV004600757] | uncertain significance | 2 | 240586953 | 240586953 | Human | 1 | name |
| 598163745 | CV3943129 | single nucleotide variant | NM_023083.4(CAPN10):c.64G>T (p.Ala22Ser) | Inborn genetic diseases [RCV005307430] | likely benign | 2 | 240586975 | 240586975 | Human | 1 | name |
| 598212834 | CV3943134 | single nucleotide variant | NM_023083.4(CAPN10):c.44G>A (p.Arg15Gln) | Inborn genetic diseases [RCV005316225] | uncertain significance | 2 | 240586955 | 240586955 | Human | 1 | name |
| 15132062 | CV733321 | single nucleotide variant | NM_023083.4(CAPN10):c.465C>T (p.Tyr155=) | not provided [RCV000897889] | likely benign | 2 | 240591006 | 240591006 | Human | | name |
| 15192719 | CV733322 | single nucleotide variant | NM_023083.4(CAPN10):c.486C>T (p.Tyr162=) | not provided [RCV000910626] | likely benign | 2 | 240591948 | 240591948 | Human | | name |
| 15125104 | CV733324 | single nucleotide variant | NM_023083.4(CAPN10):c.828G>A (p.Glu276=) | not provided [RCV000896702] | benign | 2 | 240594045 | 240594045 | Human | | name |
| 15139300 | CV733326 | single nucleotide variant | NM_023083.4(CAPN10):c.966G>A (p.Thr322=) | CAPN10-related disorder [RCV004551706]|not provided [RCV000899124] | likely benign | 2 | 240594678 | 240594678 | Human | 1 | name , trait , alternate_id |
| 15165305 | CV747451 | single nucleotide variant | NM_023083.4(CAPN10):c.768C>T (p.Ile256=) | not provided [RCV000926591] | likely benign | 2 | 240593985 | 240593985 | Human | | name |
| 15180965 | CV763097 | single nucleotide variant | NM_023083.4(CAPN10):c.756G>A (p.Ala252=) | not provided [RCV000930013] | likely benign | 2 | 240593973 | 240593973 | Human | | name |
| 156377479 | CV2207101 | single nucleotide variant | NM_023083.4(CAPN10):c.148T>C (p.Cys50Arg) | Inborn genetic diseases [RCV002678021] | uncertain significance | 2 | 240589349 | 240589349 | Human | 1 | name |
| 156075755 | CV2248118 | single nucleotide variant | NM_023083.4(CAPN10):c.238G>A (p.Ala80Thr) | Inborn genetic diseases [RCV002797656] | uncertain significance | 2 | 240589439 | 240589439 | Human | 1 | name |
| 156027214 | CV2278414 | single nucleotide variant | NM_023083.4(CAPN10):c.187G>A (p.Gly63Arg) | Inborn genetic diseases [RCV002845111] | uncertain significance | 2 | 240589388 | 240589388 | Human | 1 | name |
| 155927154 | CV2285068 | single nucleotide variant | NM_023083.4(CAPN10):c.125C>T (p.Thr42Met) | Inborn genetic diseases [RCV002860467] | uncertain significance | 2 | 240587036 | 240587036 | Human | 1 | name |
| 405266471 | CV3202001 | single nucleotide variant | NM_023083.4(CAPN10):c.1647C>T (p.Pro549=) | CAPN10-related disorder [RCV004550836] | likely benign | 2 | 240596846 | 240596846 | Human | | name , trait , alternate_id |
| 405256369 | CV3203625 | single nucleotide variant | NM_023083.4(CAPN10):c.1350A>T (p.Ala450=) | CAPN10-related disorder [RCV004552700] | likely benign | 2 | 240596390 | 240596390 | Human | | name , trait , alternate_id |
| 405289410 | CV3205158 | single nucleotide variant | NM_023083.4(CAPN10):c.1533G>A (p.Ala511=) | CAPN10-related disorder [RCV004552868] | likely benign | 2 | 240596732 | 240596732 | Human | | name , trait , alternate_id |
| 405276171 | CV3206613 | single nucleotide variant | NM_023083.4(CAPN10):c.1341G>A (p.Ala447=) | CAPN10-related disorder [RCV004550949] | likely benign | 2 | 240596381 | 240596381 | Human | | name , trait , alternate_id |
| 405295201 | CV3211102 | single nucleotide variant | NM_023083.4(CAPN10):c.1170G>A (p.Ala390=) | CAPN10-related disorder [RCV004552671] | likely benign | 2 | 240595196 | 240595196 | Human | | name , trait , alternate_id |
| 405768512 | CV3298857 | single nucleotide variant | NM_023083.4(CAPN10):c.136C>T (p.Pro46Ser) | Inborn genetic diseases [RCV004434872] | uncertain significance | 2 | 240587047 | 240587047 | Human | 1 | name |
| 405768531 | CV3298860 | single nucleotide variant | NM_023083.4(CAPN10):c.293C>T (p.Pro98Leu) | Inborn genetic diseases [RCV004434875] | uncertain significance | 2 | 240590834 | 240590834 | Human | 1 | name |
| 597645264 | CV3647671 | single nucleotide variant | NM_023083.4(CAPN10):c.161G>A (p.Arg54Gln) | Inborn genetic diseases [RCV004972581] | uncertain significance | 2 | 240589362 | 240589362 | Human | 1 | name |
| 597645269 | CV3647672 | single nucleotide variant | NM_023083.4(CAPN10):c.160C>T (p.Arg54Trp) | Inborn genetic diseases [RCV004972582] | uncertain significance | 2 | 240589361 | 240589361 | Human | 1 | name |
| 12847757 | CV366474 | single nucleotide variant | NM_023083.4(CAPN10):c.1776C>T (p.Pro592=) | not specified [RCV000444055] | likely benign | 2 | 240597920 | 240597920 | Human | | name |
| 598209821 | CV3894982 | single nucleotide variant | NM_023083.4(CAPN10):c.1140C>T (p.Ala380=) | CAPN10-related disorder [RCV005358446] | uncertain significance | 2 | 240595166 | 240595166 | Human | | name , trait , alternate_id |
| 598163750 | CV3943130 | single nucleotide variant | NM_023083.4(CAPN10):c.241G>A (p.Ala81Thr) | Inborn genetic diseases [RCV005307431] | uncertain significance | 2 | 240589442 | 240589442 | Human | 1 | name |
| 15195291 | CV719750 | single nucleotide variant | NM_023083.4(CAPN10):c.100C>G (p.Leu34Val) | not provided [RCV000889461] | benign | 2 | 240587011 | 240587011 | Human | | name |
| 15162809 | CV733328 | single nucleotide variant | NM_023083.4(CAPN10):c.1710C>T (p.Thr570=) | not provided [RCV000903635] | benign | 2 | 240596909 | 240596909 | Human | | name |
| 15148234 | CV747452 | single nucleotide variant | NM_023083.4(CAPN10):c.1188C>T (p.Ala396=) | not provided [RCV000923058] | likely benign | 2 | 240595214 | 240595214 | Human | | name |
| 15198858 | CV747453 | single nucleotide variant | NM_023083.4(CAPN10):c.1431G>A (p.Ala477=) | CAPN10-related disorder [RCV004551793]|not provided [RCV000912376] | benign|likely benign | 2 | 240596471 | 240596471 | Human | 1 | name , trait , alternate_id |
| 127263031 | CV1059263 | duplication | NM_023083.4(CAPN10):c.1070dup (p.Asn357fs) | not provided [RCV001387864] | pathogenic | 2 | 240595094 | 240595095 | Human | | name |
| 156404235 | CV1898169 | single nucleotide variant | NM_023083.4(CAPN10):c.379C>T (p.Arg127Cys) | not provided [RCV002585361] | uncertain significance | 2 | 240590920 | 240590920 | Human | | name |
| 155925922 | CV2230529 | single nucleotide variant | NM_023083.4(CAPN10):c.706G>C (p.Glu236Gln) | Inborn genetic diseases [RCV002728088] | uncertain significance | 2 | 240593923 | 240593923 | Human | 1 | name |
| 156159226 | CV2236201 | single nucleotide variant | NM_023083.4(CAPN10):c.929G>A (p.Arg310Lys) | Inborn genetic diseases [RCV002787380] | uncertain significance | 2 | 240594641 | 240594641 | Human | 1 | name |
| 156083742 | CV2289620 | single nucleotide variant | NM_023083.4(CAPN10):c.604C>A (p.Arg202Ser) | Inborn genetic diseases [RCV002869414] | uncertain significance | 2 | 240592066 | 240592066 | Human | 1 | name |
| 156274610 | CV2334124 | single nucleotide variant | NM_023083.4(CAPN10):c.873G>T (p.Glu291Asp) | Inborn genetic diseases [RCV002960562] | uncertain significance | 2 | 240594585 | 240594585 | Human | 1 | name |
| 155934251 | CV2372424 | single nucleotide variant | NM_023083.4(CAPN10):c.415C>T (p.Arg139Cys) | Inborn genetic diseases [RCV002684620] | uncertain significance | 2 | 240590956 | 240590956 | Human | 1 | name |
| 156347898 | CV2375582 | single nucleotide variant | NM_023083.4(CAPN10):c.605G>A (p.Arg202His) | Inborn genetic diseases [RCV002719940] | uncertain significance | 2 | 240592067 | 240592067 | Human | 1 | name |
| 156181488 | CV2384079 | single nucleotide variant | NM_023083.4(CAPN10):c.652T>C (p.Cys218Arg) | Inborn genetic diseases [RCV002699406] | uncertain significance | 2 | 240592114 | 240592114 | Human | 1 | name |
| 329354435 | CV2448172 | single nucleotide variant | NM_023083.4(CAPN10):c.835G>A (p.Glu279Lys) | Inborn genetic diseases [RCV003202211] | uncertain significance | 2 | 240594547 | 240594547 | Human | 1 | name |
| 329394563 | CV2461413 | single nucleotide variant | NM_023083.4(CAPN10):c.680C>T (p.Pro227Leu) | Inborn genetic diseases [RCV003193739] | uncertain significance | 2 | 240592142 | 240592142 | Human | 1 | name |
| 401740179 | CV2683282 | single nucleotide variant | NM_023083.4(CAPN10):c.644A>G (p.Lys215Arg) | Inborn genetic diseases [RCV003251155] | uncertain significance | 2 | 240592106 | 240592106 | Human | 1 | name |
| 401747744 | CV2691673 | single nucleotide variant | NM_023083.4(CAPN10):c.429G>C (p.Glu143Asp) | Inborn genetic diseases [RCV003242319] | uncertain significance | 2 | 240590970 | 240590970 | Human | 1 | name |
| 405768537 | CV3298861 | single nucleotide variant | NM_023083.4(CAPN10):c.353G>A (p.Arg118His) | Inborn genetic diseases [RCV004434876] | likely benign | 2 | 240590894 | 240590894 | Human | 1 | name |
| 405768545 | CV3298862 | single nucleotide variant | NM_023083.4(CAPN10):c.416G>A (p.Arg139His) | Inborn genetic diseases [RCV004434877] | uncertain significance | 2 | 240590957 | 240590957 | Human | 1 | name |
| 405768558 | CV3298864 | single nucleotide variant | NM_023083.4(CAPN10):c.476A>G (p.His159Arg) | Inborn genetic diseases [RCV004434879] | uncertain significance | 2 | 240591938 | 240591938 | Human | 1 | name |
| 405768563 | CV3298865 | single nucleotide variant | NM_023083.4(CAPN10):c.752A>G (p.Gln251Arg) | Inborn genetic diseases [RCV004434880] | likely benign | 2 | 240593969 | 240593969 | Human | 1 | name |
| 597645318 | CV3647681 | single nucleotide variant | NM_023083.4(CAPN10):c.445C>T (p.Pro149Ser) | Inborn genetic diseases [RCV004972591] | uncertain significance | 2 | 240590986 | 240590986 | Human | 1 | name |
| 597645328 | CV3647683 | single nucleotide variant | NM_023083.4(CAPN10):c.850G>T (p.Val284Leu) | Inborn genetic diseases [RCV004972593] | uncertain significance | 2 | 240594562 | 240594562 | Human | 1 | name |
| 598163755 | CV3943131 | single nucleotide variant | NM_023083.4(CAPN10):c.358G>A (p.Val120Met) | Inborn genetic diseases [RCV005307432] | uncertain significance | 2 | 240590899 | 240590899 | Human | 1 | name |
| 15150760 | CV733323 | single nucleotide variant | NM_023083.4(CAPN10):c.598C>A (p.Pro200Thr) | not provided [RCV000901222] | benign | 2 | 240592060 | 240592060 | Human | | name |
| 15169340 | CV733325 | single nucleotide variant | NM_023083.4(CAPN10):c.959C>T (p.Pro320Leu) | not provided [RCV000905037] | likely benign | 2 | 240594671 | 240594671 | Human | | name |
| 40886534 | CV973289 | single nucleotide variant | NM_023083.4(CAPN10):c.466G>A (p.Ala156Thr) | Inborn genetic diseases [RCV001265657] | uncertain significance | 2 | 240591007 | 240591007 | Human | 1 | name |
| 150509999 | CV1286331 | single nucleotide variant | NM_023083.4(CAPN10):c.1510A>G (p.Thr504Ala) | CAPN10-related disorder [RCV004551988]|not provided [RCV001720859] | benign | 2 | 240596709 | 240596709 | Human | 1 | name , trait , alternate_id |
| 155266403 | CV1698904 | single nucleotide variant | NM_023083.4(CAPN10):c.1720C>G (p.Pro574Ala) | Diabetes mellitus, noninsulin-dependent, 1 [RCV002282758] | uncertain significance | 2 | 240596919 | 240596919 | Human | 1 | name |
| 156419008 | CV1929189 | single nucleotide variant | NM_023083.4(CAPN10):c.1016C>T (p.Thr339Met) | Inborn genetic diseases [RCV003162017]|not provided [RCV002612220] | uncertain significance | 2 | 240595042 | 240595042 | Human | 1 | name |
| 156247122 | CV2202831 | single nucleotide variant | NM_023083.4(CAPN10):c.1292G>A (p.Arg431Gln) | Inborn genetic diseases [RCV002668152] | uncertain significance | 2 | 240596332 | 240596332 | Human | 1 | name |
| 156147013 | CV2212805 | single nucleotide variant | NM_023083.4(CAPN10):c.1849C>T (p.Leu617Phe) | Inborn genetic diseases [RCV002697407] | uncertain significance | 2 | 240597993 | 240597993 | Human | 1 | name |
| 156329871 | CV2213923 | single nucleotide variant | NM_023083.4(CAPN10):c.1580A>G (p.Gln527Arg) | Inborn genetic diseases [RCV002673177] | uncertain significance | 2 | 240596779 | 240596779 | Human | 1 | name |
| 156240151 | CV2221310 | single nucleotide variant | NM_023083.4(CAPN10):c.1451G>C (p.Arg484Pro) | Inborn genetic diseases [RCV002713323] | uncertain significance | 2 | 240596491 | 240596491 | Human | 1 | name |
| 156127883 | CV2223854 | single nucleotide variant | NM_023083.4(CAPN10):c.1583C>A (p.Thr528Lys) | Inborn genetic diseases [RCV002708268] | uncertain significance | 2 | 240596782 | 240596782 | Human | 1 | name |
| 155921909 | CV2240597 | single nucleotide variant | NM_023083.4(CAPN10):c.1531G>A (p.Ala511Thr) | Inborn genetic diseases [RCV002773116] | likely benign | 2 | 240596730 | 240596730 | Human | 1 | name |
| 155991371 | CV2256438 | single nucleotide variant | NM_023083.4(CAPN10):c.1504A>G (p.Asn502Asp) | Inborn genetic diseases [RCV002793704] | uncertain significance | 2 | 240596703 | 240596703 | Human | 1 | name |
| 156275092 | CV2279908 | single nucleotide variant | NM_023083.4(CAPN10):c.1825G>A (p.Ala609Thr) | Inborn genetic diseases [RCV002832550] | uncertain significance | 2 | 240597969 | 240597969 | Human | 1 | name |
| 155905226 | CV2285907 | single nucleotide variant | NM_023083.4(CAPN10):c.1040T>C (p.Val347Ala) | Inborn genetic diseases [RCV002837113] | uncertain significance | 2 | 240595066 | 240595066 | Human | 1 | name |
| 156192752 | CV2289458 | single nucleotide variant | NM_023083.4(CAPN10):c.1304C>T (p.Pro435Leu) | Inborn genetic diseases [RCV002874341] | uncertain significance | 2 | 240596344 | 240596344 | Human | 1 | name |
| 156092875 | CV2309890 | single nucleotide variant | NM_023083.4(CAPN10):c.1697G>A (p.Arg566Gln) | Inborn genetic diseases [RCV002888130] | likely benign | 2 | 240596896 | 240596896 | Human | 1 | name |
| 155966409 | CV2329797 | single nucleotide variant | NM_023083.4(CAPN10):c.1640C>T (p.Ser547Leu) | Inborn genetic diseases [RCV002945392] | uncertain significance | 2 | 240596839 | 240596839 | Human | 1 | name |
| 156362659 | CV2330294 | single nucleotide variant | NM_023083.4(CAPN10):c.1669G>A (p.Val557Ile) | Inborn genetic diseases [RCV002941582] | uncertain significance | 2 | 240596868 | 240596868 | Human | 1 | name |
| 156042098 | CV2342198 | single nucleotide variant | NM_023083.4(CAPN10):c.1183C>T (p.Arg395Trp) | Inborn genetic diseases [RCV002977279] | uncertain significance | 2 | 240595209 | 240595209 | Human | 1 | name |
| 156054344 | CV2344625 | single nucleotide variant | NM_023083.4(CAPN10):c.1895C>T (p.Pro632Leu) | Inborn genetic diseases [RCV002977978] | uncertain significance | 2 | 240598039 | 240598039 | Human | 1 | name |
| 156097856 | CV2392736 | single nucleotide variant | NM_023083.4(CAPN10):c.1078G>A (p.Gly360Ser) | Inborn genetic diseases [RCV002784723] | uncertain significance | 2 | 240595104 | 240595104 | Human | 1 | name |
| 156196098 | CV2400584 | single nucleotide variant | NM_023083.4(CAPN10):c.1465G>A (p.Gly489Arg) | Inborn genetic diseases [RCV002789474] | uncertain significance | 2 | 240596505 | 240596505 | Human | 1 | name |
| 156198510 | CV2400871 | single nucleotide variant | NM_023083.4(CAPN10):c.1166C>T (p.Ala389Val) | Inborn genetic diseases [RCV002789618] | uncertain significance | 2 | 240595192 | 240595192 | Human | 1 | name |
| 329372961 | CV2428726 | single nucleotide variant | NM_023083.4(CAPN10):c.1559G>A (p.Arg520Gln) | Inborn genetic diseases [RCV003184981] | likely benign | 2 | 240596758 | 240596758 | Human | 1 | name |
| 329359106 | CV2450845 | single nucleotide variant | NM_023083.4(CAPN10):c.1723A>G (p.Ile575Val) | Inborn genetic diseases [RCV003204315] | uncertain significance | 2 | 240596922 | 240596922 | Human | 1 | name |
| 329374753 | CV2470705 | single nucleotide variant | NM_023083.4(CAPN10):c.1028C>T (p.Pro343Leu) | Inborn genetic diseases [RCV003210915] | uncertain significance | 2 | 240595054 | 240595054 | Human | 1 | name |
| 329393569 | CV2471970 | single nucleotide variant | NM_023083.4(CAPN10):c.1217C>T (p.Ser406Leu) | Inborn genetic diseases [RCV003218351] | uncertain significance | 2 | 240595243 | 240595243 | Human | 1 | name |
| 401732491 | CV2691023 | single nucleotide variant | NM_023083.4(CAPN10):c.1019G>A (p.Arg340Gln) | Inborn genetic diseases [RCV003290197] | likely benign | 2 | 240595045 | 240595045 | Human | 1 | name |
| 401728675 | CV2693724 | single nucleotide variant | NM_023083.4(CAPN10):c.1951A>G (p.Ile651Val) | Inborn genetic diseases [RCV003270685] | uncertain significance | 2 | 240598359 | 240598359 | Human | 1 | name |
| 401748887 | CV2708394 | single nucleotide variant | NM_023083.4(CAPN10):c.1267C>T (p.His423Tyr) | Inborn genetic diseases [RCV003294771] | uncertain significance | 2 | 240595293 | 240595293 | Human | 1 | name |
| 401870099 | CV2772618 | single nucleotide variant | NM_023083.4(CAPN10):c.1357C>T (p.Arg453Trp) | Inborn genetic diseases [RCV003346015] | uncertain significance | 2 | 240596397 | 240596397 | Human | 1 | name |
| 401905110 | CV2800386 | single nucleotide variant | NM_023083.4(CAPN10):c.1184G>A (p.Arg395Gln) | CAPN10-related disorder [RCV004548644] | uncertain significance | 2 | 240595210 | 240595210 | Human | | name , trait , alternate_id |
| 405768520 | CV3298858 | single nucleotide variant | NM_023083.4(CAPN10):c.1886C>T (p.Thr629Ile) | Inborn genetic diseases [RCV004434873] | uncertain significance | 2 | 240598030 | 240598030 | Human | 1 | name |
| 405768525 | CV3298859 | single nucleotide variant | NM_023083.4(CAPN10):c.1916C>T (p.Thr639Ile) | Inborn genetic diseases [RCV004434874] | uncertain significance | 2 | 240598060 | 240598060 | Human | 1 | name |
| 407474949 | CV3424604 | single nucleotide variant | NM_023083.4(CAPN10):c.1009T>A (p.Cys337Ser) | Inborn genetic diseases [RCV004600752] | uncertain significance | 2 | 240595035 | 240595035 | Human | 1 | name |
| 407474956 | CV3424607 | single nucleotide variant | NM_023083.4(CAPN10):c.1529C>T (p.Pro510Leu) | Inborn genetic diseases [RCV004600756] | uncertain significance | 2 | 240596728 | 240596728 | Human | 1 | name |
| 408369363 | CV3508348 | single nucleotide variant | NM_023083.4(CAPN10):c.1097A>C (p.Lys366Thr) | CAPN10-related disorder [RCV004736766] | uncertain significance | 2 | 240595123 | 240595123 | Human | | name , trait , alternate_id |
| 597645260 | CV3647670 | single nucleotide variant | NM_023083.4(CAPN10):c.1111G>A (p.Val371Ile) | Inborn genetic diseases [RCV004972580] | uncertain significance | 2 | 240595137 | 240595137 | Human | 1 | name |
| 597645275 | CV3647673 | single nucleotide variant | NM_023083.4(CAPN10):c.1796C>T (p.Pro599Leu) | Inborn genetic diseases [RCV004972583] | uncertain significance | 2 | 240597940 | 240597940 | Human | 1 | name |
| 597645282 | CV3647674 | single nucleotide variant | NM_023083.4(CAPN10):c.1841G>A (p.Arg614Gln) | Inborn genetic diseases [RCV004972584] | likely benign | 2 | 240597985 | 240597985 | Human | 1 | name |
| 597645289 | CV3647675 | single nucleotide variant | NM_023083.4(CAPN10):c.1042A>G (p.Lys348Glu) | Inborn genetic diseases [RCV004972585] | uncertain significance | 2 | 240595068 | 240595068 | Human | 1 | name |
| 597645290 | CV3647676 | single nucleotide variant | NM_023083.4(CAPN10):c.1373G>A (p.Arg458His) | Inborn genetic diseases [RCV004972586] | uncertain significance | 2 | 240596413 | 240596413 | Human | 1 | name |
| 597645301 | CV3647678 | single nucleotide variant | NM_023083.4(CAPN10):c.1666T>A (p.Cys556Ser) | Inborn genetic diseases [RCV004972588] | uncertain significance | 2 | 240596865 | 240596865 | Human | 1 | name |
| 597645307 | CV3647679 | single nucleotide variant | NM_023083.4(CAPN10):c.1291C>T (p.Arg431Trp) | Inborn genetic diseases [RCV004972589] | uncertain significance | 2 | 240596331 | 240596331 | Human | 1 | name |
| 597645314 | CV3647680 | single nucleotide variant | NM_023083.4(CAPN10):c.1753G>A (p.Gly585Ser) | Inborn genetic diseases [RCV004972590] | uncertain significance | 2 | 240597897 | 240597897 | Human | 1 | name |
| 597645322 | CV3647682 | single nucleotide variant | NM_023083.4(CAPN10):c.1876G>A (p.Val626Met) | Inborn genetic diseases [RCV004972592] | uncertain significance | 2 | 240598020 | 240598020 | Human | 1 | name |
| 598209828 | CV3894983 | single nucleotide variant | NM_023083.4(CAPN10):c.1576G>A (p.Gly526Ser) | CAPN10-related disorder [RCV005358447] | uncertain significance | 2 | 240596775 | 240596775 | Human | | name , trait , alternate_id |
| 598163743 | CV3943128 | single nucleotide variant | NM_023083.4(CAPN10):c.1469G>A (p.Arg490Gln) | Inborn genetic diseases [RCV005307429] | uncertain significance | 2 | 240596509 | 240596509 | Human | 1 | name |
| 598212829 | CV3943132 | single nucleotide variant | NM_023083.4(CAPN10):c.1927G>A (p.Ala643Thr) | Inborn genetic diseases [RCV005316224] | uncertain significance | 2 | 240598071 | 240598071 | Human | 1 | name |
| 598163762 | CV3943133 | single nucleotide variant | NM_023083.4(CAPN10):c.1021G>A (p.Ala341Thr) | Inborn genetic diseases [RCV005307433] | uncertain significance | 2 | 240595047 | 240595047 | Human | 1 | name |
| 598163765 | CV3943135 | single nucleotide variant | NM_023083.4(CAPN10):c.1468C>G (p.Arg490Gly) | Inborn genetic diseases [RCV005307434] | uncertain significance | 2 | 240596508 | 240596508 | Human | 1 | name |
| 15098777 | CV697466 | single nucleotide variant | NM_023083.4(CAPN10):c.1429G>A (p.Ala477Thr) | not provided [RCV000958636] | benign | 2 | 240596469 | 240596469 | Human | | name |
| 15122724 | CV708145 | single nucleotide variant | NM_023083.4(CAPN10):c.1420C>A (p.Leu474Met) | not provided [RCV000963117] | benign | 2 | 240596460 | 240596460 | Human | | name |
| 15165297 | CV708146 | single nucleotide variant | NM_023083.4(CAPN10):c.1838G>A (p.Ser613Asn) | not provided [RCV000970919] | likely benign | 2 | 240597982 | 240597982 | Human | | name |
| 15105990 | CV719751 | single nucleotide variant | NM_023083.4(CAPN10):c.1378G>A (p.Glu460Lys) | CAPN10-related disorder [RCV004551671]|not provided [RCV000893187] | benign | 2 | 240596418 | 240596418 | Human | 1 | name , trait , alternate_id |
| 15166996 | CV733327 | single nucleotide variant | NM_023083.4(CAPN10):c.1663C>T (p.Arg555Cys) | CAPN10-related disorder [RCV004551742]|not provided [RCV000904559] | likely benign | 2 | 240596862 | 240596862 | Human | 1 | name , trait , alternate_id |
| 15188403 | CV733329 | single nucleotide variant | NM_023083.4(CAPN10):c.1745T>C (p.Val582Ala) | CAPN10-related disorder [RCV004551772]|not provided [RCV000909359] | benign|likely benign | 2 | 240597889 | 240597889 | Human | 1 | name , trait , alternate_id |
| 40886535 | CV973290 | duplication | NM_023083.4(CAPN10):c.837_858dup (p.Ala287fs) | Inborn genetic diseases [RCV001265658] | pathogenic | 2 | 240594547 | 240594548 | Human | 1 | name |