| 11659200 | CV278403 | single nucleotide variant | NM_001005337.3(PKP1):c.-96G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000355656] | uncertain significance | 1 | 201283607 | 201283607 | Human | 1 | name |
| 11597479 | CV278404 | single nucleotide variant | NM_001005337.3(PKP1):c.-86C>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000394595] | benign|uncertain significance | 1 | 201283617 | 201283617 | Human | 1 | name |
| 11657896 | CV278500 | single nucleotide variant | NM_001005337.3(PKP1):c.*63G>C | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000344821] | uncertain significance | 1 | 201330104 | 201330104 | Human | 1 | name |
| 11649510 | CV279786 | single nucleotide variant | NM_001005337.3(PKP1):c.*56C>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000287619] | uncertain significance | 1 | 201330097 | 201330097 | Human | 1 | name |
| 11654805 | CV278419 | single nucleotide variant | NM_001005337.3(PKP1):c.*349A>G | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000320724] | uncertain significance | 1 | 201330390 | 201330390 | Human | 1 | name |
| 11594591 | CV278425 | single nucleotide variant | NM_001005337.3(PKP1):c.*417G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000360448] | uncertain significance | 1 | 201330458 | 201330458 | Human | 1 | name |
| 11596463 | CV278428 | single nucleotide variant | NM_001005337.3(PKP1):c.*616A>C | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000382507]|not provided [RCV004713566] | benign | 1 | 201330657 | 201330657 | Human | 1 | name |
| 11593661 | CV278431 | single nucleotide variant | NM_001005337.3(PKP1):c.*709G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000350816]|not provided [RCV004713569] | benign|likely benign | 1 | 201330750 | 201330750 | Human | 1 | name |
| 11585048 | CV278432 | single nucleotide variant | NM_001005337.3(PKP1):c.*731G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000278188]|not provided [RCV004713570] | benign | 1 | 201330772 | 201330772 | Human | 1 | name |
| 11588092 | CV278434 | single nucleotide variant | NM_001005337.3(PKP1):c.*924T>C | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000300386]|not provided [RCV004713572] | benign|likely benign | 1 | 201330965 | 201330965 | Human | 1 | name |
| 11588190 | CV278475 | single nucleotide variant | NM_001005337.3(PKP1):c.-116C>G | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000300872] | likely benign|uncertain significance | 1 | 201283587 | 201283587 | Human | 1 | name |
| 11653275 | CV278501 | deletion | NM_001005337.3(PKP1):c.*177del | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000309854] | uncertain significance | 1 | 201330209 | 201330209 | Human | 1 | name |
| 11579824 | CV278502 | single nucleotide variant | NM_001005337.3(PKP1):c.*222G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000313728] | uncertain significance | 1 | 201330263 | 201330263 | Human | 1 | name |
| 11582396 | CV278505 | single nucleotide variant | NM_001005337.3(PKP1):c.*301A>C | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000259520]|not provided [RCV004714718] | benign | 1 | 201330342 | 201330342 | Human | 1 | name |
| 11594129 | CV278506 | single nucleotide variant | NM_001005337.3(PKP1):c.*327C>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000355700] | likely benign|uncertain significance | 1 | 201330368 | 201330368 | Human | 1 | name |
| 11596761 | CV278507 | single nucleotide variant | NM_001005337.3(PKP1):c.*673G>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000386076]|not provided [RCV004713567] | benign | 1 | 201330714 | 201330714 | Human | 1 | name |
| 11587249 | CV278508 | single nucleotide variant | NM_001005337.3(PKP1):c.*683A>G | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000293612]|not provided [RCV004713568] | benign | 1 | 201330724 | 201330724 | Human | 1 | name |
| 11598202 | CV279632 | single nucleotide variant | NM_001005337.3(PKP1):c.*151G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000402528]|not provided [RCV004714715] | benign|likely benign | 1 | 201330192 | 201330192 | Human | 1 | name |
| 11595463 | CV279633 | single nucleotide variant | NM_001005337.3(PKP1):c.*222G>C | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000370769]|not provided [RCV004714717] | benign | 1 | 201330263 | 201330263 | Human | 1 | name |
| 11651391 | CV279634 | single nucleotide variant | NM_001005337.3(PKP1):c.*320G>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000298586] | uncertain significance | 1 | 201330361 | 201330361 | Human | 1 | name |
| 11645064 | CV279641 | single nucleotide variant | NM_001005337.3(PKP1):c.*329C>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000263210] | uncertain significance | 1 | 201330370 | 201330370 | Human | 1 | name |
| 11591091 | CV279643 | single nucleotide variant | NM_001005337.3(PKP1):c.*579G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000325588]|not provided [RCV004714719] | benign | 1 | 201330620 | 201330620 | Human | 1 | name |
| 11650002 | CV279663 | single nucleotide variant | NM_001005337.3(PKP1):c.*644G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000290495] | uncertain significance | 1 | 201330685 | 201330685 | Human | 1 | name |
| 11580301 | CV279664 | single nucleotide variant | NM_001005337.3(PKP1):c.*673G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000329158] | uncertain significance | 1 | 201330714 | 201330714 | Human | 1 | name |
| 11598503 | CV279667 | single nucleotide variant | NM_001005337.3(PKP1):c.*718T>C | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000406569] | likely benign|uncertain significance | 1 | 201330759 | 201330759 | Human | 1 | name |
| 11598480 | CV279712 | single nucleotide variant | NM_001005337.3(PKP1):c.-130A>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000405993]|not provided [RCV001689975] | benign | 1 | 201283573 | 201283573 | Human | 1 | name |
| 11593370 | CV279788 | single nucleotide variant | NM_001005337.3(PKP1):c.*192G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000348303]|not provided [RCV004714716] | benign|likely benign | 1 | 201330233 | 201330233 | Human | 1 | name |
| 11645974 | CV279790 | single nucleotide variant | NM_001005337.3(PKP1):c.*447A>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000268091] | uncertain significance | 1 | 201330488 | 201330488 | Human | 1 | name |
| 11592142 | CV279792 | single nucleotide variant | NM_001005337.3(PKP1):c.*856C>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000335641]|not provided [RCV004714720] | benign | 1 | 201330897 | 201330897 | Human | 1 | name |
| 11597171 | CV279793 | single nucleotide variant | NM_001005337.3(PKP1):c.*864G>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000390816]|not provided [RCV004713571] | benign|likely benign | 1 | 201330905 | 201330905 | Human | 1 | name |
| 28880907 | CV863266 | single nucleotide variant | NM_001005337.2(PKP1):c.-235G>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001096691] | uncertain significance | 1 | 201283468 | 201283468 | Human | 1 | name |
| 28881472 | CV863286 | single nucleotide variant | NM_001005337.3(PKP1):c.*221C>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001096867] | uncertain significance | 1 | 201330262 | 201330262 | Human | 1 | name |
| 28892045 | CV863287 | single nucleotide variant | NM_001005337.3(PKP1):c.*448T>C | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100413] | uncertain significance | 1 | 201330489 | 201330489 | Human | 1 | name |
| 28896866 | CV863288 | single nucleotide variant | NM_001005337.3(PKP1):c.*713T>G | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001102375] | uncertain significance | 1 | 201330754 | 201330754 | Human | 1 | name |
| 28881770 | CV863289 | single nucleotide variant | NM_001005337.3(PKP1):c.*741G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001096976] | uncertain significance | 1 | 201330782 | 201330782 | Human | 1 | name |
| 28881774 | CV863290 | single nucleotide variant | NM_001005337.3(PKP1):c.*786A>G | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001096977] | likely benign | 1 | 201330827 | 201330827 | Human | 1 | name |
| 28881778 | CV863291 | single nucleotide variant | NM_001005337.3(PKP1):c.*861A>G | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001096978] | uncertain significance | 1 | 201330902 | 201330902 | Human | 1 | name |
| 28881779 | CV863292 | single nucleotide variant | NM_001005337.3(PKP1):c.*894T>C | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001096979] | uncertain significance | 1 | 201330935 | 201330935 | Human | 1 | name |
| 28887246 | CV863293 | single nucleotide variant | NM_001005337.3(PKP1):c.*896T>C | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098713] | likely benign | 1 | 201330937 | 201330937 | Human | 1 | name |
| 28887254 | CV863294 | single nucleotide variant | NM_001005337.3(PKP1):c.*933A>G | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098714] | uncertain significance | 1 | 201330974 | 201330974 | Human | 1 | name |
| 151661880 | CV1330084 | single nucleotide variant | NM_001005337.3(PKP1):c.203-1G>C | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001823495] | likely pathogenic | 1 | 201293941 | 201293941 | Human | 1 | name |
| 11594274 | CV278440 | single nucleotide variant | NM_001005337.3(PKP1):c.*1032C>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000357643] | uncertain significance | 1 | 201331073 | 201331073 | Human | 1 | name |
| 11595592 | CV278442 | single nucleotide variant | NM_001005337.3(PKP1):c.*1643C>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000372107] | uncertain significance | 1 | 201331684 | 201331684 | Human | 1 | name |
| 11598275 | CV278448 | single nucleotide variant | NM_001005337.3(PKP1):c.*1716C>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000403392] | uncertain significance | 1 | 201331757 | 201331757 | Human | 1 | name |
| 11584567 | CV278450 | single nucleotide variant | NM_001005337.3(PKP1):c.*2559A>G | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000274600] | uncertain significance | 1 | 201332600 | 201332600 | Human | 1 | name |
| 11582939 | CV278452 | single nucleotide variant | NM_001005337.3(PKP1):c.*2752G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000263286] | benign|likely benign | 1 | 201332793 | 201332793 | Human | 1 | name |
| 11583864 | CV278509 | single nucleotide variant | NM_001005337.3(PKP1):c.*1229C>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000269597] | uncertain significance | 1 | 201331270 | 201331270 | Human | 1 | name |
| 11646935 | CV278519 | single nucleotide variant | NM_001005337.3(PKP1):c.*1498A>G | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000273335] | uncertain significance | 1 | 201331539 | 201331539 | Human | 1 | name |
| 11656442 | CV278520 | single nucleotide variant | NM_001005337.3(PKP1):c.*1604C>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000333709] | uncertain significance | 1 | 201331645 | 201331645 | Human | 1 | name |
| 11592295 | CV278521 | single nucleotide variant | NM_001005337.3(PKP1):c.*1689C>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000337337]|not provided [RCV004713573] | benign | 1 | 201331730 | 201331730 | Human | 1 | name |
| 11588904 | CV278522 | single nucleotide variant | NM_001005337.3(PKP1):c.*2362C>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000306496] | benign|likely benign | 1 | 201332403 | 201332403 | Human | 1 | name |
| 11595114 | CV278544 | single nucleotide variant | NM_001005337.3(PKP1):c.*2543C>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000366759] | uncertain significance | 1 | 201332584 | 201332584 | Human | 1 | name |
| 11582404 | CV278558 | single nucleotide variant | NM_001005337.3(PKP1):c.*2623C>G | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000259594] | uncertain significance | 1 | 201332664 | 201332664 | Human | 1 | name |
| 11586123 | CV278560 | single nucleotide variant | NM_001005337.3(PKP1):c.*2858C>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000285616] | uncertain significance | 1 | 201332899 | 201332899 | Human | 1 | name |
| 11657689 | CV278563 | single nucleotide variant | NM_001005337.3(PKP1):c.*2859G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000343020] | uncertain significance | 1 | 201332900 | 201332900 | Human | 1 | name |
| 11597521 | CV279679 | single nucleotide variant | NM_001005337.3(PKP1):c.*1040G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000395268] | uncertain significance | 1 | 201331081 | 201331081 | Human | 1 | name |
| 11591232 | CV279681 | single nucleotide variant | NM_001005337.3(PKP1):c.*1305T>C | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000326924]|not provided [RCV004710755] | likely benign|uncertain significance | 1 | 201331346 | 201331346 | Human | 1 | name |
| 11596898 | CV279682 | single nucleotide variant | NM_001005337.3(PKP1):c.*1555C>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000387502] | likely benign|uncertain significance | 1 | 201331596 | 201331596 | Human | 1 | name |
| 11585295 | CV279691 | single nucleotide variant | NM_001005337.3(PKP1):c.*1673T>C | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000279902]|not provided [RCV004714721] | benign | 1 | 201331714 | 201331714 | Human | 1 | name |
| 11592671 | CV279694 | single nucleotide variant | NM_001005337.3(PKP1):c.*1884G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000340963]|not provided [RCV004713574] | benign|likely benign | 1 | 201331925 | 201331925 | Human | 1 | name |
| 11598427 | CV279697 | single nucleotide variant | NM_001005337.3(PKP1):c.*1942A>C | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000405274]|not provided [RCV004713575] | benign | 1 | 201331983 | 201331983 | Human | 1 | name |
| 11597654 | CV279699 | single nucleotide variant | NM_001005337.3(PKP1):c.*2527G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000396674]|not provided [RCV004713576] | benign | 1 | 201332568 | 201332568 | Human | 1 | name |
| 11590214 | CV279700 | single nucleotide variant | NM_001005337.3(PKP1):c.*2704A>G | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000317113]|not provided [RCV004713577] | benign | 1 | 201332745 | 201332745 | Human | 1 | name |
| 11595751 | CV279701 | single nucleotide variant | NM_001005337.3(PKP1):c.*2737C>G | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000374037]|not provided [RCV004713578] | benign | 1 | 201332778 | 201332778 | Human | 1 | name |
| 11654786 | CV279725 | single nucleotide variant | NM_001005337.3(PKP1):c.*2778C>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000320828] | uncertain significance | 1 | 201332819 | 201332819 | Human | 1 | name |
| 11596051 | CV279726 | single nucleotide variant | NM_001005337.3(PKP1):c.*2850C>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000377646] | benign|uncertain significance | 1 | 201332891 | 201332891 | Human | 1 | name |
| 11588695 | CV279794 | single nucleotide variant | NM_001005337.3(PKP1):c.*1148C>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000304953] | likely benign|uncertain significance | 1 | 201331189 | 201331189 | Human | 1 | name |
| 11594679 | CV279802 | single nucleotide variant | NM_001005337.3(PKP1):c.*1197C>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000362007] | uncertain significance | 1 | 201331238 | 201331238 | Human | 1 | name |
| 11660262 | CV279808 | single nucleotide variant | NM_001005337.3(PKP1):c.*1409C>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000365519] | uncertain significance | 1 | 201331450 | 201331450 | Human | 1 | name |
| 11656082 | CV279819 | single nucleotide variant | NM_001005337.3(PKP1):c.*1516T>C | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000330618] | uncertain significance | 1 | 201331557 | 201331557 | Human | 1 | name |
| 11650818 | CV279820 | single nucleotide variant | NM_001005337.3(PKP1):c.*1565C>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000295102] | uncertain significance | 1 | 201331606 | 201331606 | Human | 1 | name |
| 11578533 | CV279825 | single nucleotide variant | NM_001005337.3(PKP1):c.*1812G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000283645] | uncertain significance | 1 | 201331853 | 201331853 | Human | 1 | name |
| 11594827 | CV279827 | single nucleotide variant | NM_001005337.3(PKP1):c.*2505C>G | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000363395]|not provided [RCV004714722] | benign|likely benign | 1 | 201332546 | 201332546 | Human | 1 | name |
| 11589317 | CV279828 | single nucleotide variant | NM_001005337.3(PKP1):c.*2542G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000309803]|not provided [RCV004714723] | benign|likely benign | 1 | 201332583 | 201332583 | Human | 1 | name |
| 405220361 | CV2884240 | single nucleotide variant | NM_001005337.3(PKP1):c.307-5G>T | not provided [RCV003553788] | likely benign | 1 | 201313161 | 201313161 | Human | | name |
| 405276451 | CV3193418 | single nucleotide variant | NM_001005337.3(PKP1):c.202+7G>C | PKP1-related disorder [RCV003974586] | likely benign | 1 | 201283911 | 201283911 | Human | | name , trait , alternate_id |
| 28887259 | CV863295 | single nucleotide variant | NM_001005337.3(PKP1):c.*1064G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098715] | uncertain significance | 1 | 201331105 | 201331105 | Human | 1 | name |
| 28887264 | CV863296 | single nucleotide variant | NM_001005337.3(PKP1):c.*1132T>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098716] | uncertain significance | 1 | 201331173 | 201331173 | Human | 1 | name |
| 28892335 | CV863297 | single nucleotide variant | NM_001005337.3(PKP1):c.*1203C>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100528] | uncertain significance | 1 | 201331244 | 201331244 | Human | 1 | name |
| 28892339 | CV863298 | single nucleotide variant | NM_001005337.3(PKP1):c.*1443G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100529] | uncertain significance | 1 | 201331484 | 201331484 | Human | 1 | name |
| 28897106 | CV863299 | single nucleotide variant | NM_001005337.3(PKP1):c.*1558C>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001102473] | uncertain significance | 1 | 201331599 | 201331599 | Human | 1 | name |
| 28882091 | CV863300 | single nucleotide variant | NM_001005337.3(PKP1):c.*1730G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001097074] | uncertain significance | 1 | 201331771 | 201331771 | Human | 1 | name |
| 28882094 | CV863301 | single nucleotide variant | NM_001005337.3(PKP1):c.*2281C>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001097075] | uncertain significance | 1 | 201332322 | 201332322 | Human | 1 | name |
| 28887614 | CV863302 | single nucleotide variant | NM_001005337.3(PKP1):c.*2408A>G | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098827] | uncertain significance | 1 | 201332449 | 201332449 | Human | 1 | name |
| 28887619 | CV863303 | single nucleotide variant | NM_001005337.3(PKP1):c.*2460C>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098828] | uncertain significance | 1 | 201332501 | 201332501 | Human | 1 | name |
| 28887625 | CV863304 | single nucleotide variant | NM_001005337.3(PKP1):c.*2501C>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098829] | uncertain significance | 1 | 201332542 | 201332542 | Human | 1 | name |
| 28892609 | CV863305 | single nucleotide variant | NM_001005337.3(PKP1):c.*2591G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100640] | uncertain significance | 1 | 201332632 | 201332632 | Human | 1 | name |
| 28893318 | CV863306 | single nucleotide variant | NM_001005337.3(PKP1):c.*2805C>G | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100914] | uncertain significance | 1 | 201332846 | 201332846 | Human | 1 | name |
| 150514604 | CV1212069 | single nucleotide variant | NM_001005337.3(PKP1):c.202+87C>G | not provided [RCV001599138] | benign | 1 | 201283991 | 201283991 | Human | | name |
| 150457476 | CV1219620 | single nucleotide variant | NM_001005337.3(PKP1):c.847-72C>G | not provided [RCV001612836] | benign | 1 | 201317500 | 201317500 | Human | | name |
| 150509644 | CV1229949 | single nucleotide variant | NM_001005337.3(PKP1):c.846+84A>G | not provided [RCV001636529] | benign | 1 | 201316781 | 201316781 | Human | | name |
| 150492173 | CV1238124 | single nucleotide variant | NM_001005337.3(PKP1):c.847-22C>T | not provided [RCV001654970] | benign | 1 | 201317550 | 201317550 | Human | | name |
| 150490756 | CV1239169 | deletion | NM_001005337.3(PKP1):c.847-76del | not provided [RCV001654737] | benign | 1 | 201317487 | 201317487 | Human | | name |
| 152074254 | CV1630083 | single nucleotide variant | NM_001005337.3(PKP1):c.701+19G>A | not provided [RCV002169693] | likely benign | 1 | 201313579 | 201313579 | Human | | name |
| 156399531 | CV1897449 | single nucleotide variant | NM_001005337.3(PKP1):c.202+10C>T | not provided [RCV002584729] | likely benign | 1 | 201283914 | 201283914 | Human | | name |
| 156318822 | CV2014323 | deletion | NM_001005337.3(PKP1):c.306+11del | not provided [RCV002672059] | likely benign | 1 | 201294056 | 201294056 | Human | | name |
| 156360864 | CV2016638 | single nucleotide variant | NM_001005337.3(PKP1):c.1233-6C>T | not provided [RCV002720850] | likely benign | 1 | 201320261 | 201320261 | Human | | name |
| 8560018 | CV22644 | single nucleotide variant | NM_001005337.3(PKP1):c.1233-2A>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000008043] | pathogenic | 1 | 201320265 | 201320265 | Human | 1 | name |
| 404978952 | CV3013233 | single nucleotide variant | NM_001005337.3(PKP1):c.2022-8C>T | not provided [RCV003690884] | likely benign | 1 | 201325746 | 201325746 | Human | | name |
| 597864807 | CV3742238 | single nucleotide variant | NM_001005337.3(PKP1):c.2021+7G>C | not provided [RCV005067854] | likely benign | 1 | 201325134 | 201325134 | Human | | name |
| 14693413 | CV620711 | single nucleotide variant | NM_001005337.3(PKP1):c.1681-1G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000778958] | uncertain significance | 1 | 201324427 | 201324427 | Human | | name |
| 15117395 | CV743699 | single nucleotide variant | NM_001005337.3(PKP1):c.1834+6G>A | PKP1-related disorder [RCV003958027]|not provided [RCV000895368] | benign | 1 | 201324587 | 201324587 | Human | 1 | name , trait , alternate_id |
| 21403965 | CV800816 | single nucleotide variant | NM_001005337.3(PKP1):c.2021+1G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001003403] | pathogenic | 1 | 201325128 | 201325128 | Human | 1 | name |
| 21403809 | CV800818 | single nucleotide variant | NM_001005337.3(PKP1):c.1233-2A>G | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001003405] | pathogenic | 1 | 201320265 | 201320265 | Human | 1 | name |
| 28886679 | CV865090 | single nucleotide variant | NM_001005337.3(PKP1):c.1347+7G>A | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098535] | uncertain significance | 1 | 201320388 | 201320388 | Human | 1 | name |
| 150335060 | CV1170649 | single nucleotide variant | NM_001005337.3(PKP1):c.1232+84G>A | not provided [RCV001540382] | benign | 1 | 201318879 | 201318879 | Human | | name |
| 150497085 | CV1219348 | single nucleotide variant | NM_001005337.3(PKP1):c.1347+36G>A | not provided [RCV001620017] | benign | 1 | 201320417 | 201320417 | Human | | name |
| 150455100 | CV1220410 | single nucleotide variant | NM_001005337.3(PKP1):c.1504-31T>C | not provided [RCV001612503] | benign | 1 | 201322982 | 201322982 | Human | | name |
| 150503603 | CV1223783 | single nucleotide variant | NM_001005337.3(PKP1):c.702-282G>A | not provided [RCV001621432] | benign | 1 | 201316271 | 201316271 | Human | | name |
| 150489376 | CV1237646 | single nucleotide variant | NM_001005337.3(PKP1):c.1835-99C>T | not provided [RCV001654495] | benign | 1 | 201324842 | 201324842 | Human | | name |
| 150485848 | CV1250313 | single nucleotide variant | NM_001005337.3(PKP1):c.1504-49C>T | not provided [RCV001673926] | benign | 1 | 201322964 | 201322964 | Human | | name |
| 150462680 | CV1253695 | single nucleotide variant | NM_001005337.3(PKP1):c.846+160A>G | not provided [RCV001669737] | benign | 1 | 201316857 | 201316857 | Human | | name |
| 150463055 | CV1253750 | single nucleotide variant | NM_001005337.3(PKP1):c.203-315G>T | not provided [RCV001669792] | benign | 1 | 201293627 | 201293627 | Human | | name |
| 150491906 | CV1253838 | single nucleotide variant | NM_001005337.3(PKP1):c.1835-84G>A | not provided [RCV001674934] | benign | 1 | 201324857 | 201324857 | Human | | name |
| 150480575 | CV1258751 | single nucleotide variant | NM_001005337.3(PKP1):c.1503+22C>T | not provided [RCV001685881] | benign | 1 | 201322155 | 201322155 | Human | | name |
| 150473677 | CV1262942 | single nucleotide variant | NM_001005337.3(PKP1):c.2021+23G>A | not provided [RCV001684758] | benign | 1 | 201325150 | 201325150 | Human | | name |
| 150473830 | CV1262967 | single nucleotide variant | NM_001005337.3(PKP1):c.202+249A>G | not provided [RCV001684783] | benign | 1 | 201284153 | 201284153 | Human | | name |
| 150461481 | CV1264315 | single nucleotide variant | NM_001005337.3(PKP1):c.1348-40C>T | not provided [RCV001682232] | benign | 1 | 201321938 | 201321938 | Human | | name |
| 150442245 | CV1264401 | single nucleotide variant | NM_001005337.3(PKP1):c.203-144C>T | not provided [RCV001679384] | benign | 1 | 201293798 | 201293798 | Human | | name |
| 150491749 | CV1267827 | single nucleotide variant | NM_001005337.3(PKP1):c.307-127C>G | not provided [RCV001687852] | benign | 1 | 201313039 | 201313039 | Human | | name |
| 150442429 | CV1287722 | single nucleotide variant | NM_001005337.3(PKP1):c.306+157C>G | not provided [RCV001725443] | benign | 1 | 201294202 | 201294202 | Human | | name |
| 151232730 | CV1316888 | single nucleotide variant | NM_001005337.3(PKP1):c.1233-80C>T | not provided [RCV001786708] | likely benign | 1 | 201320187 | 201320187 | Human | | name |
| 152168921 | CV1598322 | single nucleotide variant | NM_001005337.3(PKP1):c.2021+16C>T | not provided [RCV002142613] | benign | 1 | 201325143 | 201325143 | Human | | name |
| 152115786 | CV1653653 | single nucleotide variant | NM_001005337.3(PKP1):c.2022-16C>T | not provided [RCV002153638] | benign | 1 | 201325738 | 201325738 | Human | | name |
| 156152190 | CV1961108 | single nucleotide variant | NM_001005337.3(PKP1):c.1054+20G>A | not provided [RCV002572934] | likely benign | 1 | 201317799 | 201317799 | Human | | name |
| 156132031 | CV1962754 | single nucleotide variant | NM_001005337.3(PKP1):c.1835-13G>A | not provided [RCV002572267] | benign | 1 | 201324928 | 201324928 | Human | | name |
| 156221082 | CV2037692 | single nucleotide variant | NM_001005337.3(PKP1):c.1504-19A>G | not provided [RCV002790629] | likely benign | 1 | 201322994 | 201322994 | Human | | name |
| 11579903 | CV278487 | single nucleotide variant | NM_001005337.3(PKP1):c.1504-15G>T | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000316263]|not provided [RCV002059422] | benign|likely benign | 1 | 201322998 | 201322998 | Human | 1 | name |
| 405224751 | CV2979486 | single nucleotide variant | NM_001005337.3(PKP1):c.1055-16G>T | not provided [RCV003681233] | likely benign | 1 | 201318602 | 201318602 | Human | | name |
| 405211885 | CV3117879 | single nucleotide variant | NM_001005337.3(PKP1):c.1233-16C>T | not provided [RCV003823478] | likely benign | 1 | 201320251 | 201320251 | Human | | name |
| 404978969 | CV3127713 | single nucleotide variant | NM_001005337.3(PKP1):c.1347+13C>T | not provided [RCV003825745] | likely benign | 1 | 201320394 | 201320394 | Human | | name |
| 402519818 | CV3136032 | single nucleotide variant | NM_001005337.3(PKP1):c.2022-18C>T | not provided [RCV003824658] | likely benign | 1 | 201325736 | 201325736 | Human | | name |
| 12845648 | CV364748 | single nucleotide variant | NM_001005337.3(PKP1):c.2022-11C>T | not specified [RCV000440203] | likely benign | 1 | 201325743 | 201325743 | Human | | name |
| 597959578 | CV3752347 | single nucleotide variant | NM_001005337.3(PKP1):c.1054+13G>T | not provided [RCV005081297] | benign | 1 | 201317792 | 201317792 | Human | | name |
| 597910642 | CV3806645 | single nucleotide variant | NM_001005337.3(PKP1):c.2022-18C>G | not provided [RCV005154212] | likely benign | 1 | 201325736 | 201325736 | Human | | name |
| 150332209 | CV1168804 | single nucleotide variant | NM_001005337.3(PKP1):c.1504-124G>A | not provided [RCV001536789] | benign | 1 | 201322889 | 201322889 | Human | | name |
| 150509089 | CV1214211 | single nucleotide variant | NM_001005337.3(PKP1):c.2021+163C>T | not provided [RCV001596732] | benign | 1 | 201325290 | 201325290 | Human | | name |
| 150460956 | CV1215745 | single nucleotide variant | NM_001005337.3(PKP1):c.1348-138T>G | not provided [RCV001613447] | benign | 1 | 201321840 | 201321840 | Human | | name |
| 150435017 | CV1216036 | single nucleotide variant | NM_001005337.3(PKP1):c.1681-302C>A | not provided [RCV001609226] | benign | 1 | 201324126 | 201324126 | Human | | name |
| 150477722 | CV1218667 | single nucleotide variant | NM_001005337.3(PKP1):c.1348-316T>A | not provided [RCV001616294] | benign | 1 | 201321662 | 201321662 | Human | | name |
| 150433569 | CV1230569 | single nucleotide variant | NM_001005337.3(PKP1):c.1504-296T>C | not provided [RCV001643514] | benign | 1 | 201322717 | 201322717 | Human | | name |
| 150433649 | CV1230592 | single nucleotide variant | NM_001005337.3(PKP1):c.2021+234C>T | not provided [RCV001643538] | benign | 1 | 201325361 | 201325361 | Human | | name |
| 150445595 | CV1233205 | single nucleotide variant | NM_001005337.3(PKP1):c.2107-223C>A | not provided [RCV001645878] | benign | 1 | 201328539 | 201328539 | Human | | name |
| 150459206 | CV1248636 | single nucleotide variant | NM_001005337.3(PKP1):c.1680+171C>T | not provided [RCV001669246] | benign | 1 | 201323360 | 201323360 | Human | | name |
| 150457933 | CV1248858 | single nucleotide variant | NM_001005337.3(PKP1):c.1347+194C>A | not provided [RCV001669034] | benign | 1 | 201320575 | 201320575 | Human | | name |
| 150458355 | CV1248920 | single nucleotide variant | NM_001005337.3(PKP1):c.2106+141C>T | not provided [RCV001669096] | benign | 1 | 201325979 | 201325979 | Human | | name |
| 150464623 | CV1252729 | single nucleotide variant | NM_001005337.3(PKP1):c.1233-440G>A | not provided [RCV001670053] | benign | 1 | 201319827 | 201319827 | Human | | name |
| 150461453 | CV1253243 | single nucleotide variant | NM_001005337.3(PKP1):c.1233-497A>C | not provided [RCV001669572] | benign | 1 | 201319770 | 201319770 | Human | | name |
| 150494871 | CV1256535 | single nucleotide variant | NM_001005337.3(PKP1):c.1233-727G>A | not provided [RCV001675500] | benign | 1 | 201319540 | 201319540 | Human | | name |
| 150503370 | CV1257782 | single nucleotide variant | NM_001005337.3(PKP1):c.2022-260G>A | not provided [RCV001677470] | benign | 1 | 201325494 | 201325494 | Human | | name |
| 150454328 | CV1260644 | single nucleotide variant | NM_001005337.3(PKP1):c.1347+182C>A | not provided [RCV001681137] | benign | 1 | 201320563 | 201320563 | Human | | name |
| 150455084 | CV1261096 | single nucleotide variant | NM_001005337.3(PKP1):c.1348-121C>T | not provided [RCV001681294] | benign | 1 | 201321857 | 201321857 | Human | | name |
| 150487275 | CV1262712 | single nucleotide variant | NM_001005337.3(PKP1):c.2022-290T>C | not provided [RCV001687110] | benign | 1 | 201325464 | 201325464 | Human | | name |
| 150438675 | CV1264858 | single nucleotide variant | NM_001005337.3(PKP1):c.1680+156G>T | not provided [RCV001678851] | benign | 1 | 201323345 | 201323345 | Human | | name |
| 150442744 | CV1266282 | single nucleotide variant | NM_001005337.3(PKP1):c.1232+109C>T | not provided [RCV001690718] | benign | 1 | 201318904 | 201318904 | Human | | name |
| 150515926 | CV1285703 | single nucleotide variant | NM_001005337.3(PKP1):c.1347+137T>C | not provided [RCV001723156] | benign | 1 | 201320518 | 201320518 | Human | | name |
| 150504417 | CV1285953 | single nucleotide variant | NM_001005337.3(PKP1):c.1055-217T>C | not provided [RCV001719376] | benign | 1 | 201318401 | 201318401 | Human | | name |
| 150504688 | CV1286007 | single nucleotide variant | NM_001005337.3(PKP1):c.1504-105T>C | not provided [RCV001719430] | benign | 1 | 201322908 | 201322908 | Human | | name |
| 150505197 | CV1286128 | single nucleotide variant | NM_001005337.3(PKP1):c.1233-220G>A | not provided [RCV001719551] | benign | 1 | 201320047 | 201320047 | Human | | name |
| 150505454 | CV1286193 | single nucleotide variant | NM_001005337.3(PKP1):c.1503+290G>A | not provided [RCV001719618] | benign | 1 | 201322423 | 201322423 | Human | | name |
| 405276579 | CV3206789 | single nucleotide variant | NM_001005337.3(PKP1):c.1233-413C>A | PKP1-related disorder [RCV003917218] | benign | 1 | 201319854 | 201319854 | Human | | name , trait , alternate_id |
| 11663595 | CV279789 | indel | NM_001005337.3(PKP1):c.*224delinsGG | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000397253] | uncertain significance | 1 | 201330265 | 201330265 | Human | | name |
| 11579378 | CV278477 | single nucleotide variant | NM_001005337.3(PKP1):c.15G>T (p.Pro5=) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000302269] | uncertain significance | 1 | 201283717 | 201283717 | Human | 1 | name |
| 11635189 | CV278554 | insertion | NM_001005337.3(PKP1):c.*2568_*2569insA | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000313371] | uncertain significance | 1 | 201332609 | 201332610 | Human | 1 | name |
| 152093492 | CV1593490 | variation | NM_001005337.3(PKP1):c.780= (p.Lys260=) | not provided [RCV002094517] | benign | 1 | 201316631 | 201316631 | Human | | name |
| 11549353 | CV249662 | single nucleotide variant | NM_001005337.3(PKP1):c.36C>T (p.Tyr12=) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000361551]|not provided [RCV001594896]|not specified [RCV000250310] | benign | 1 | 201283738 | 201283738 | Human | 1 | name |
| 405192856 | CV3149724 | single nucleotide variant | NM_001005337.3(PKP1):c.199C>A (p.Arg67=) | not provided [RCV003843450] | likely benign | 1 | 201283901 | 201283901 | Human | | name |
| 15156613 | CV706988 | single nucleotide variant | NM_001005337.3(PKP1):c.294A>G (p.Ser98=) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098425]|PKP1-related disorder [RCV004758118]|not provided [RCV000969146] | benign|likely benign | 1 | 201294033 | 201294033 | Human | 1 | name , trait , alternate_id |
| 156021616 | CV2105753 | single nucleotide variant | NM_001005337.3(PKP1):c.981G>A (p.Arg327=) | not provided [RCV002923092] | likely benign | 1 | 201317706 | 201317706 | Human | | name |
| 156243335 | CV2126156 | single nucleotide variant | NM_001005337.3(PKP1):c.456G>A (p.Ala152=) | PKP1-related disorder [RCV003963503]|not provided [RCV002958949] | likely benign | 1 | 201313315 | 201313315 | Human | 1 | name , trait , alternate_id |
| 11543306 | CV249663 | single nucleotide variant | NM_001005337.3(PKP1):c.918C>T (p.Ala306=) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000404358]|not provided [RCV001536941]|not specified [RCV000242284] | benign|likely benign | 1 | 201317643 | 201317643 | Human | 1 | name |
| 11580798 | CV279626 | single nucleotide variant | NM_001005337.3(PKP1):c.996C>T (p.Arg332=) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000344742] | uncertain significance | 1 | 201317721 | 201317721 | Human | 1 | name |
| 11580509 | CV279742 | single nucleotide variant | NM_001005337.3(PKP1):c.733C>T (p.Leu245=) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000335548]|not provided [RCV001683176] | benign | 1 | 201316584 | 201316584 | Human | 1 | name |
| 11661162 | CV279745 | single nucleotide variant | NM_001005337.3(PKP1):c.819C>T (p.Cys273=) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000373733] | uncertain significance | 1 | 201316670 | 201316670 | Human | 1 | name |
| 401936655 | CV2815923 | single nucleotide variant | NM_001005337.3(PKP1):c.906C>T (p.Asn302=) | not provided [RCV003414649] | likely benign | 1 | 201317631 | 201317631 | Human | | name |
| 405119285 | CV2891474 | single nucleotide variant | NM_001005337.3(PKP1):c.720C>T (p.Ile240=) | not provided [RCV003558886] | benign | 1 | 201316571 | 201316571 | Human | | name |
| 405067734 | CV2936790 | single nucleotide variant | NM_001005337.3(PKP1):c.375C>T (p.Asn125=) | not provided [RCV003659231] | likely benign | 1 | 201313234 | 201313234 | Human | | name |
| 597725543 | CV3569466 | single nucleotide variant | NM_001005337.3(PKP1):c.71C>G (p.Ala24Gly) | Inborn genetic diseases [RCV004962099] | uncertain significance | 1 | 201283773 | 201283773 | Human | 1 | name |
| 597922901 | CV3738558 | single nucleotide variant | NM_001005337.3(PKP1):c.384G>T (p.Arg128=) | not provided [RCV005074966] | likely benign | 1 | 201313243 | 201313243 | Human | | name |
| 597964179 | CV3837869 | single nucleotide variant | NM_001005337.3(PKP1):c.513G>A (p.Thr171=) | not provided [RCV005193853] | likely benign | 1 | 201313372 | 201313372 | Human | | name |
| 15098400 | CV696377 | single nucleotide variant | NM_001005337.3(PKP1):c.609G>A (p.Pro203=) | not provided [RCV000958548] | likely benign | 1 | 201313468 | 201313468 | Human | | name |
| 15195107 | CV696378 | single nucleotide variant | NM_001005337.3(PKP1):c.780G>A (p.Lys260=) | not provided [RCV000955830] | benign | 1 | 201316631 | 201316631 | Human | | name |
| 15172665 | CV731997 | single nucleotide variant | NM_001005337.3(PKP1):c.543G>A (p.Gln181=) | not provided [RCV000905712] | benign | 1 | 201313402 | 201313402 | Human | | name |
| 28891463 | CV863268 | single nucleotide variant | NM_001005337.3(PKP1):c.417C>T (p.Gly139=) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100194]|not provided [RCV002554960] | likely benign|uncertain significance | 1 | 201313276 | 201313276 | Human | 1 | name |
| 28896372 | CV863270 | single nucleotide variant | NM_001005337.3(PKP1):c.750T>C (p.Ala250=) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001102183] | uncertain significance | 1 | 201316601 | 201316601 | Human | 1 | name |
| 28881195 | CV863273 | single nucleotide variant | NM_001005337.3(PKP1):c.945G>A (p.Val315=) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001096780] | uncertain significance | 1 | 201317670 | 201317670 | Human | 1 | name |
| 126910970 | CV1036985 | single nucleotide variant | NM_001005337.3(PKP1):c.242G>A (p.Gly81Glu) | Inborn genetic diseases [RCV004960854]|not provided [RCV001354859] | uncertain significance | 1 | 201293981 | 201293981 | Human | 1 | name |
| 156314000 | CV1906991 | single nucleotide variant | NM_001005337.3(PKP1):c.1950G>A (p.Ser650=) | not provided [RCV003088612] | likely benign | 1 | 201325056 | 201325056 | Human | | name |
| 156419852 | CV1967481 | single nucleotide variant | NM_001005337.3(PKP1):c.1800C>T (p.Asn600=) | not provided [RCV002613098] | likely benign | 1 | 201324547 | 201324547 | Human | | name |
| 11577754 | CV278407 | single nucleotide variant | NM_001005337.3(PKP1):c.136A>T (p.Met46Leu) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000266980]|Inborn genetic diseases [RCV004021410] | uncertain significance | 1 | 201283838 | 201283838 | Human | 2 | name |
| 11581359 | CV278415 | single nucleotide variant | NM_001005337.3(PKP1):c.1116G>C (p.Leu372=) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000366695] | uncertain significance | 1 | 201318679 | 201318679 | Human | 1 | name |
| 11580014 | CV278417 | single nucleotide variant | NM_001005337.3(PKP1):c.1747C>T (p.Leu583=) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000319878]|not provided [RCV002519471] | likely benign|uncertain significance | 1 | 201324494 | 201324494 | Human | 1 | name |
| 11581524 | CV278489 | single nucleotide variant | NM_001005337.3(PKP1):c.1557C>T (p.Ser519=) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000373346]|not provided [RCV000925345] | likely benign|uncertain significance | 1 | 201323066 | 201323066 | Human | 1 | name |
| 401896798 | CV2788794 | single nucleotide variant | NM_001005337.3(PKP1):c.151C>T (p.Arg51Trp) | Inborn genetic diseases [RCV003374414] | uncertain significance | 1 | 201283853 | 201283853 | Human | 1 | name |
| 11578100 | CV279628 | single nucleotide variant | NM_001005337.3(PKP1):c.1134C>T (p.Arg378=) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000274417]|not provided [RCV000894631] | likely benign|uncertain significance | 1 | 201318697 | 201318697 | Human | 1 | name |
| 11580224 | CV279713 | single nucleotide variant | NM_001005337.3(PKP1):c.241G>A (p.Gly81Arg) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000326818]|not provided [RCV000962933] | benign|uncertain significance | 1 | 201293980 | 201293980 | Human | 1 | name |
| 11581251 | CV279722 | single nucleotide variant | NM_001005337.3(PKP1):c.263A>G (p.Tyr88Cys) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000362830]|not provided [RCV002059421] | likely benign|uncertain significance | 1 | 201294002 | 201294002 | Human | 1 | name |
| 11582067 | CV279750 | single nucleotide variant | NM_001005337.3(PKP1):c.1008C>T (p.Ser336=) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000396606]|not provided [RCV000890752] | benign|likely benign|uncertain significance | 1 | 201317733 | 201317733 | Human | 1 | name |
| 11653293 | CV279752 | single nucleotide variant | NM_001005337.3(PKP1):c.1014G>A (p.Leu338=) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000309685] | uncertain significance | 1 | 201317739 | 201317739 | Human | 1 | name |
| 401936656 | CV2815924 | single nucleotide variant | NM_001005337.3(PKP1):c.1032C>G (p.Ala344=) | not provided [RCV003414650] | likely benign | 1 | 201317757 | 201317757 | Human | | name |
| 401936657 | CV2815925 | single nucleotide variant | NM_001005337.3(PKP1):c.1173C>T (p.Ser391=) | not provided [RCV003414651] | likely benign | 1 | 201318736 | 201318736 | Human | | name |
| 401936658 | CV2815926 | single nucleotide variant | NM_001005337.3(PKP1):c.1248C>T (p.Ala416=) | not provided [RCV003414652] | likely benign | 1 | 201320282 | 201320282 | Human | | name |
| 401936659 | CV2815927 | single nucleotide variant | NM_001005337.3(PKP1):c.1491C>T (p.Ser497=) | not provided [RCV003414653] | likely benign | 1 | 201322121 | 201322121 | Human | | name |
| 405252624 | CV3047394 | single nucleotide variant | NM_001005337.3(PKP1):c.1401C>G (p.Ala467=) | not provided [RCV003722280] | likely benign | 1 | 201322031 | 201322031 | Human | | name |
| 405215697 | CV3055528 | single nucleotide variant | NM_001005337.3(PKP1):c.1239G>A (p.Leu413=) | not provided [RCV003732624] | likely benign | 1 | 201320273 | 201320273 | Human | | name |
| 405182575 | CV3057668 | single nucleotide variant | NM_001005337.3(PKP1):c.1374G>A (p.Leu458=) | not provided [RCV003728935] | likely benign | 1 | 201322004 | 201322004 | Human | | name |
| 405035099 | CV3072547 | single nucleotide variant | NM_001005337.3(PKP1):c.1245G>A (p.Ser415=) | not provided [RCV003739449] | likely benign | 1 | 201320279 | 201320279 | Human | | name |
| 405151961 | CV3162977 | single nucleotide variant | NM_001005337.3(PKP1):c.1059G>T (p.Leu353=) | not provided [RCV003856420] | likely benign | 1 | 201318622 | 201318622 | Human | | name |
| 405651434 | CV3365754 | single nucleotide variant | NM_001005337.3(PKP1):c.127G>A (p.Glu43Lys) | Inborn genetic diseases [RCV004509265] | uncertain significance | 1 | 201283829 | 201283829 | Human | 1 | name |
| 405651585 | CV3365758 | single nucleotide variant | NM_001005337.3(PKP1):c.154C>A (p.Gln52Lys) | Inborn genetic diseases [RCV004509269] | uncertain significance | 1 | 201283856 | 201283856 | Human | 1 | name |
| 405651582 | CV3365759 | single nucleotide variant | NM_001005337.3(PKP1):c.205T>A (p.Ser69Thr) | Inborn genetic diseases [RCV004509270] | uncertain significance | 1 | 201293944 | 201293944 | Human | 1 | name |
| 405651580 | CV3365760 | single nucleotide variant | NM_001005337.3(PKP1):c.206C>A (p.Ser69Tyr) | Inborn genetic diseases [RCV004509271] | uncertain significance | 1 | 201293945 | 201293945 | Human | 1 | name |
| 405651578 | CV3365761 | single nucleotide variant | NM_001005337.3(PKP1):c.272A>G (p.Lys91Arg) | Inborn genetic diseases [RCV004509272] | uncertain significance | 1 | 201294011 | 201294011 | Human | 1 | name |
| 407531155 | CV3460584 | single nucleotide variant | NM_001005337.3(PKP1):c.1326G>A (p.Ala442=) | Inborn genetic diseases [RCV004657447] | likely benign | 1 | 201320360 | 201320360 | Human | 1 | name |
| 408367430 | CV3513962 | single nucleotide variant | NM_001005337.3(PKP1):c.1779C>T (p.Ser593=) | PKP1-related disorder [RCV004758508] | likely benign | 1 | 201324526 | 201324526 | Human | | name , trait , alternate_id |
| 597630680 | CV3714781 | single nucleotide variant | NM_001005337.3(PKP1):c.208A>G (p.Met70Val) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV005006647]|not provided [RCV005001484] | uncertain significance | 1 | 201293947 | 201293947 | Human | 1 | name |
| 597891725 | CV3840178 | single nucleotide variant | NM_001005337.3(PKP1):c.1851G>A (p.Pro617=) | not provided [RCV005179877] | likely benign | 1 | 201324957 | 201324957 | Human | | name |
| 15110632 | CV718511 | single nucleotide variant | NM_001005337.3(PKP1):c.1260C>T (p.Arg420=) | not provided [RCV000894105] | benign | 1 | 201320294 | 201320294 | Human | | name |
| 15128372 | CV731999 | single nucleotide variant | NM_001005337.3(PKP1):c.1992C>G (p.Leu664=) | not provided [RCV000897261] | likely benign | 1 | 201325098 | 201325098 | Human | | name |
| 15193015 | CV761467 | single nucleotide variant | NM_001005337.3(PKP1):c.1743C>T (p.Arg581=) | not provided [RCV000933247] | likely benign | 1 | 201324490 | 201324490 | Human | | name |
| 21403807 | CV800817 | deletion | NM_001005337.3(PKP1):c.889del (p.Arg297fs) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001003404] | pathogenic | 1 | 201317613 | 201317613 | Human | 1 | name |
| 28886667 | CV863275 | single nucleotide variant | NM_001005337.3(PKP1):c.1200T>C (p.Pro400=) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098532] | uncertain significance | 1 | 201318763 | 201318763 | Human | 1 | name |
| 28886676 | CV863277 | single nucleotide variant | NM_001005337.3(PKP1):c.1326G>T (p.Ala442=) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098534] | uncertain significance | 1 | 201320360 | 201320360 | Human | 1 | name |
| 28891751 | CV863279 | single nucleotide variant | NM_001005337.3(PKP1):c.1401C>T (p.Ala467=) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100297]|not provided [RCV002556026] | likely benign|uncertain significance | 1 | 201322031 | 201322031 | Human | 1 | name |
| 155952276 | CV1900027 | single nucleotide variant | NM_001005337.3(PKP1):c.475C>A (p.Leu159Ile) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV003130836]|not provided [RCV003095397] | likely benign|uncertain significance | 1 | 201313334 | 201313334 | Human | 1 | name |
| 156141764 | CV2109968 | single nucleotide variant | NM_001005337.3(PKP1):c.883C>G (p.Leu295Val) | Inborn genetic diseases [RCV002928581]|not provided [RCV002942391] | uncertain significance | 1 | 201317608 | 201317608 | Human | 1 | name |
| 156306683 | CV2123149 | single nucleotide variant | NM_001005337.3(PKP1):c.604C>T (p.Arg202Cys) | not provided [RCV002962398] | uncertain significance | 1 | 201313463 | 201313463 | Human | | name |
| 156248092 | CV2168800 | single nucleotide variant | NM_001005337.3(PKP1):c.883C>T (p.Leu295Phe) | not provided [RCV003026244] | uncertain significance | 1 | 201317608 | 201317608 | Human | | name |
| 156398634 | CV2194693 | single nucleotide variant | NM_001005337.3(PKP1):c.305C>T (p.Pro102Leu) | Inborn genetic diseases [RCV002655651] | uncertain significance | 1 | 201294044 | 201294044 | Human | 1 | name |
| 156047697 | CV2212738 | single nucleotide variant | NM_001005337.3(PKP1):c.847G>A (p.Val283Ile) | Inborn genetic diseases [RCV002692659] | uncertain significance | 1 | 201317572 | 201317572 | Human | 1 | name |
| 156127479 | CV2234684 | single nucleotide variant | NM_001005337.3(PKP1):c.779A>T (p.Lys260Met) | Inborn genetic diseases [RCV002762714] | uncertain significance | 1 | 201316630 | 201316630 | Human | 1 | name |
| 8560016 | CV22642 | single nucleotide variant | NM_001005337.3(PKP1):c.910C>T (p.Gln304Ter) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000008041] | pathogenic | 1 | 201317635 | 201317635 | Human | 1 | name |
| 156262112 | CV2287566 | single nucleotide variant | NM_001005337.3(PKP1):c.598C>T (p.Pro200Ser) | Inborn genetic diseases [RCV002855485] | uncertain significance | 1 | 201313457 | 201313457 | Human | 1 | name |
| 156190834 | CV2289299 | single nucleotide variant | NM_001005337.3(PKP1):c.591G>T (p.Lys197Asn) | Inborn genetic diseases [RCV002874231] | uncertain significance | 1 | 201313450 | 201313450 | Human | 1 | name |
| 156294763 | CV2321439 | single nucleotide variant | NM_001005337.3(PKP1):c.919G>A (p.Ala307Thr) | Inborn genetic diseases [RCV002935878] | uncertain significance | 1 | 201317644 | 201317644 | Human | 1 | name |
| 156060956 | CV2323140 | single nucleotide variant | NM_001005337.3(PKP1):c.907G>A (p.Val303Ile) | Inborn genetic diseases [RCV002950677] | uncertain significance | 1 | 201317632 | 201317632 | Human | 1 | name |
| 156003847 | CV2357498 | single nucleotide variant | NM_001005337.3(PKP1):c.976C>T (p.Arg326Trp) | Inborn genetic diseases [RCV002997213] | uncertain significance | 1 | 201317701 | 201317701 | Human | 1 | name |
| 156154990 | CV2374975 | single nucleotide variant | NM_001005337.3(PKP1):c.824A>T (p.Gln275Leu) | Inborn genetic diseases [RCV002709893] | uncertain significance | 1 | 201316675 | 201316675 | Human | 1 | name |
| 329402641 | CV2451132 | single nucleotide variant | NM_001005337.3(PKP1):c.889C>G (p.Arg297Gly) | Inborn genetic diseases [RCV003199501] | uncertain significance | 1 | 201317614 | 201317614 | Human | 1 | name |
| 401730968 | CV2674215 | single nucleotide variant | NM_001005337.3(PKP1):c.415G>A (p.Gly139Ser) | Inborn genetic diseases [RCV003248438] | uncertain significance | 1 | 201313274 | 201313274 | Human | 1 | name |
| 401886861 | CV2767941 | single nucleotide variant | NM_001005337.3(PKP1):c.926G>A (p.Gly309Glu) | Inborn genetic diseases [RCV003352150] | uncertain significance | 1 | 201317651 | 201317651 | Human | 1 | name |
| 11578293 | CV278408 | single nucleotide variant | NM_001005337.3(PKP1):c.605G>A (p.Arg202His) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000278105]|PKP1-related disorder [RCV004757987]|not provided [RCV000960006] | likely benign|uncertain significance | 1 | 201313464 | 201313464 | Human | 1 | name , trait , alternate_id |
| 11579532 | CV278409 | single nucleotide variant | NM_001005337.3(PKP1):c.995G>A (p.Arg332His) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000306163]|Inborn genetic diseases [RCV004955397] | uncertain significance | 1 | 201317720 | 201317720 | Human | 2 | name |
| 11580263 | CV278481 | single nucleotide variant | NM_001005337.3(PKP1):c.347G>A (p.Arg116His) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000328092]|PKP1-related disorder [RCV003920195]|not provided [RCV000974877] | benign|likely benign | 1 | 201313206 | 201313206 | Human | 1 | name , trait , alternate_id |
| 11580402 | CV278483 | single nucleotide variant | NM_001005337.3(PKP1):c.482G>A (p.Cys161Tyr) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000332114]|not provided [RCV001610802] | benign|likely benign | 1 | 201313341 | 201313341 | Human | 1 | name |
| 11581896 | CV278484 | single nucleotide variant | NM_001005337.3(PKP1):c.586A>G (p.Ile196Val) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000388950]|not provided [RCV001610803] | benign | 1 | 201313445 | 201313445 | Human | 1 | name |
| 401897323 | CV2790021 | single nucleotide variant | NM_001005337.3(PKP1):c.935G>A (p.Arg312His) | Inborn genetic diseases [RCV003374943] | uncertain significance | 1 | 201317660 | 201317660 | Human | 1 | name |
| 11578038 | CV279623 | single nucleotide variant | NM_001005337.3(PKP1):c.346C>T (p.Arg116Cys) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000273008] | uncertain significance | 1 | 201313205 | 201313205 | Human | 1 | name |
| 11648382 | CV279624 | single nucleotide variant | NM_001005337.3(PKP1):c.822C>G (p.Phe274Leu) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000281650] | uncertain significance | 1 | 201316673 | 201316673 | Human | 1 | name |
| 11662556 | CV279723 | single nucleotide variant | NM_001005337.3(PKP1):c.378G>C (p.Trp126Cys) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000387306] | uncertain significance | 1 | 201313237 | 201313237 | Human | 1 | name |
| 11578990 | CV279729 | single nucleotide variant | NM_001005337.3(PKP1):c.418G>A (p.Ala140Thr) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000293537]|PKP1-related disorder [RCV003957540]|not provided [RCV000911947] | likely benign|uncertain significance | 1 | 201313277 | 201313277 | Human | 1 | name , trait , alternate_id |
| 11580679 | CV279747 | single nucleotide variant | NM_001005337.3(PKP1):c.899A>C (p.Asn300Thr) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000341126]|not provided [RCV005090422] | likely benign|uncertain significance | 1 | 201317624 | 201317624 | Human | 1 | name |
| 402489770 | CV2862013 | single nucleotide variant | NM_001005337.3(PKP1):c.826G>T (p.Asp276Tyr) | not provided [RCV003544766] | likely benign | 1 | 201316677 | 201316677 | Human | | name |
| 405651576 | CV3365762 | single nucleotide variant | NM_001005337.3(PKP1):c.344G>A (p.Arg115Lys) | Inborn genetic diseases [RCV004509273] | uncertain significance | 1 | 201313203 | 201313203 | Human | 1 | name |
| 405651573 | CV3365763 | single nucleotide variant | NM_001005337.3(PKP1):c.389A>G (p.Tyr130Cys) | Inborn genetic diseases [RCV004509274] | uncertain significance | 1 | 201313248 | 201313248 | Human | 1 | name |
| 405651571 | CV3365764 | single nucleotide variant | NM_001005337.3(PKP1):c.674C>A (p.Ser225Tyr) | Inborn genetic diseases [RCV004509275] | uncertain significance | 1 | 201313533 | 201313533 | Human | 1 | name |
| 405651568 | CV3365765 | single nucleotide variant | NM_001005337.3(PKP1):c.791T>C (p.Ile264Thr) | Inborn genetic diseases [RCV004509276] | uncertain significance | 1 | 201316642 | 201316642 | Human | 1 | name |
| 405651566 | CV3365766 | single nucleotide variant | NM_001005337.3(PKP1):c.797C>T (p.Ala266Val) | Inborn genetic diseases [RCV004509277] | uncertain significance | 1 | 201316648 | 201316648 | Human | 1 | name |
| 407512671 | CV3460587 | single nucleotide variant | NM_001005337.3(PKP1):c.574G>C (p.Gly192Arg) | Inborn genetic diseases [RCV004648509] | uncertain significance | 1 | 201313433 | 201313433 | Human | 1 | name |
| 596923533 | CV3531957 | single nucleotide variant | NM_001005337.3(PKP1):c.691G>T (p.Ala231Ser) | not provided [RCV004777068] | uncertain significance | 1 | 201313550 | 201313550 | Human | | name |
| 597725515 | CV3569461 | single nucleotide variant | NM_001005337.3(PKP1):c.494G>A (p.Gly165Asp) | Inborn genetic diseases [RCV004962094] | uncertain significance | 1 | 201313353 | 201313353 | Human | 1 | name |
| 597725521 | CV3569462 | single nucleotide variant | NM_001005337.3(PKP1):c.977G>A (p.Arg326Gln) | Inborn genetic diseases [RCV004962095] | uncertain significance | 1 | 201317702 | 201317702 | Human | 1 | name |
| 597725530 | CV3569464 | single nucleotide variant | NM_001005337.3(PKP1):c.922G>C (p.Ala308Pro) | Inborn genetic diseases [RCV004962097] | uncertain significance | 1 | 201317647 | 201317647 | Human | 1 | name |
| 597725567 | CV3569471 | single nucleotide variant | NM_001005337.3(PKP1):c.972G>T (p.Glu324Asp) | Inborn genetic diseases [RCV004962104] | uncertain significance | 1 | 201317697 | 201317697 | Human | 1 | name |
| 598168973 | CV4000110 | single nucleotide variant | NM_001005337.3(PKP1):c.460C>T (p.Arg154Cys) | Inborn genetic diseases [RCV005391979] | uncertain significance | 1 | 201313319 | 201313319 | Human | 1 | name |
| 598168982 | CV4000112 | single nucleotide variant | NM_001005337.3(PKP1):c.623C>T (p.Ser208Phe) | Inborn genetic diseases [RCV005391981] | uncertain significance | 1 | 201313482 | 201313482 | Human | 1 | name |
| 598168992 | CV4000114 | single nucleotide variant | NM_001005337.3(PKP1):c.490C>T (p.Arg164Trp) | Inborn genetic diseases [RCV005391983] | uncertain significance | 1 | 201313349 | 201313349 | Human | 1 | name |
| 598205830 | CV4000117 | single nucleotide variant | NM_001005337.3(PKP1):c.839A>C (p.Lys280Thr) | Inborn genetic diseases [RCV005399526] | uncertain significance | 1 | 201316690 | 201316690 | Human | 1 | name |
| 13519518 | CV486661 | single nucleotide variant | NM_001005337.3(PKP1):c.841C>T (p.Gln281Ter) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000585663] | likely pathogenic | 1 | 201316692 | 201316692 | Human | 1 | name |
| 15172669 | CV731998 | single nucleotide variant | NM_001005337.3(PKP1):c.544A>C (p.Asn182His) | not provided [RCV000905713] | likely benign | 1 | 201313403 | 201313403 | Human | | name |
| 28891460 | CV863267 | single nucleotide variant | NM_001005337.3(PKP1):c.383G>A (p.Arg128Gln) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100193] | uncertain significance | 1 | 201313242 | 201313242 | Human | 1 | name |
| 28891467 | CV863269 | single nucleotide variant | NM_001005337.3(PKP1):c.453G>T (p.Lys151Asn) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100195]|Inborn genetic diseases [RCV002554961]|not provided [RCV002508290] | uncertain significance | 1 | 201313312 | 201313312 | Human | 2 | name |
| 28896377 | CV863271 | single nucleotide variant | NM_001005337.3(PKP1):c.790A>C (p.Ile264Leu) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001102184] | uncertain significance | 1 | 201316641 | 201316641 | Human | 1 | name |
| 28881192 | CV863272 | single nucleotide variant | NM_001005337.3(PKP1):c.919G>T (p.Ala307Ser) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001096779] | uncertain significance | 1 | 201317644 | 201317644 | Human | 1 | name |
| 8647031 | CV106667 | single nucleotide variant | NM_001005337.3(PKP1):c.1199C>T (p.Pro400Leu) | not provided [RCV000087165] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters | 1 | 201318762 | 201318762 | Human | | name |
| 150555650 | CV1304805 | single nucleotide variant | NM_001005337.3(PKP1):c.2092G>T (p.Gly698Cys) | not provided [RCV001773053] | uncertain significance | 1 | 201325824 | 201325824 | Human | | name |
| 151832610 | CV1378043 | single nucleotide variant | NM_001005337.3(PKP1):c.1391G>A (p.Arg464His) | not provided [RCV002014451] | uncertain significance | 1 | 201322021 | 201322021 | Human | | name |
| 151789903 | CV1392987 | single nucleotide variant | NM_001005337.3(PKP1):c.1492G>A (p.Asp498Asn) | not provided [RCV001931313] | uncertain significance | 1 | 201322122 | 201322122 | Human | | name |
| 155935565 | CV1916412 | single nucleotide variant | NM_001005337.3(PKP1):c.2038G>A (p.Ala680Thr) | not provided [RCV002615280] | uncertain significance | 1 | 201325770 | 201325770 | Human | | name |
| 156088121 | CV2008855 | single nucleotide variant | NM_001005337.3(PKP1):c.1321G>A (p.Val441Ile) | not provided [RCV002706215] | uncertain significance | 1 | 201320355 | 201320355 | Human | | name |
| 156223131 | CV2115228 | single nucleotide variant | NM_001005337.3(PKP1):c.1334G>A (p.Arg445His) | not provided [RCV002932536] | uncertain significance | 1 | 201320368 | 201320368 | Human | | name |
| 156264261 | CV2143621 | single nucleotide variant | NM_001005337.3(PKP1):c.1507A>G (p.Asn503Asp) | Inborn genetic diseases [RCV003274130]|not provided [RCV003009035] | uncertain significance | 1 | 201323016 | 201323016 | Human | 1 | name |
| 156319211 | CV2155277 | single nucleotide variant | NM_001005337.3(PKP1):c.1609A>G (p.Lys537Glu) | not provided [RCV003011580] | uncertain significance | 1 | 201323118 | 201323118 | Human | | name |
| 156333862 | CV2266932 | single nucleotide variant | NM_001005337.3(PKP1):c.1024G>A (p.Gly342Arg) | Inborn genetic diseases [RCV002835515] | uncertain significance | 1 | 201317749 | 201317749 | Human | 1 | name |
| 155915361 | CV2274117 | single nucleotide variant | NM_001005337.3(PKP1):c.1375C>T (p.His459Tyr) | Inborn genetic diseases [RCV002858873] | uncertain significance | 1 | 201322005 | 201322005 | Human | 1 | name |
| 155901053 | CV2275312 | single nucleotide variant | NM_001005337.3(PKP1):c.1033G>A (p.Glu345Lys) | Inborn genetic diseases [RCV002836506] | uncertain significance | 1 | 201317758 | 201317758 | Human | 1 | name |
| 155924877 | CV2277198 | single nucleotide variant | NM_001005337.3(PKP1):c.1843G>T (p.Val615Leu) | Inborn genetic diseases [RCV002860176] | uncertain significance | 1 | 201324949 | 201324949 | Human | 1 | name |
| 156158823 | CV2322686 | single nucleotide variant | NM_001005337.3(PKP1):c.1160G>T (p.Cys387Phe) | Inborn genetic diseases [RCV002955119] | uncertain significance | 1 | 201318723 | 201318723 | Human | 1 | name |
| 155902887 | CV2386368 | single nucleotide variant | NM_001005337.3(PKP1):c.1421G>A (p.Arg474His) | Inborn genetic diseases [RCV002748990] | uncertain significance | 1 | 201322051 | 201322051 | Human | 1 | name |
| 329365214 | CV2440145 | single nucleotide variant | NM_001005337.3(PKP1):c.1558G>A (p.Gly520Ser) | Inborn genetic diseases [RCV003207142] | likely benign | 1 | 201323067 | 201323067 | Human | 1 | name |
| 329359578 | CV2446333 | single nucleotide variant | NM_001005337.3(PKP1):c.1856T>C (p.Val619Ala) | Inborn genetic diseases [RCV003179494] | uncertain significance | 1 | 201324962 | 201324962 | Human | 1 | name |
| 329364508 | CV2447541 | single nucleotide variant | NM_001005337.3(PKP1):c.1420C>T (p.Arg474Cys) | Inborn genetic diseases [RCV003206779] | uncertain significance | 1 | 201322050 | 201322050 | Human | 1 | name |
| 329376931 | CV2451600 | single nucleotide variant | NM_001005337.3(PKP1):c.2116G>C (p.Asp706His) | Inborn genetic diseases [RCV003211703] | uncertain significance | 1 | 201328771 | 201328771 | Human | 1 | name |
| 329401550 | CV2461038 | single nucleotide variant | NM_001005337.3(PKP1):c.1447G>A (p.Ala483Thr) | Inborn genetic diseases [RCV003198558]|not provided [RCV005425119] | likely benign|uncertain significance | 1 | 201322077 | 201322077 | Human | 1 | name |
| 401739391 | CV2684071 | single nucleotide variant | NM_001005337.3(PKP1):c.1784C>G (p.Ala595Gly) | Inborn genetic diseases [RCV003240376] | uncertain significance | 1 | 201324531 | 201324531 | Human | 1 | name |
| 401727273 | CV2684542 | single nucleotide variant | NM_001005337.3(PKP1):c.1390C>T (p.Arg464Cys) | Inborn genetic diseases [RCV003269946] | uncertain significance | 1 | 201322020 | 201322020 | Human | 1 | name |
| 401782843 | CV2716006 | single nucleotide variant | NM_001005337.3(PKP1):c.1414C>T (p.Arg472Cys) | Inborn genetic diseases [RCV003309192] | uncertain significance | 1 | 201322044 | 201322044 | Human | 1 | name |
| 11643732 | CV271667 | single nucleotide variant | NM_001005337.3(PKP1):c.1133G>A (p.Arg378His) | not provided [RCV000399466] | uncertain significance | 1 | 201318696 | 201318696 | Human | | name |
| 401878003 | CV2760126 | single nucleotide variant | NM_001005337.3(PKP1):c.1541C>T (p.Thr514Ile) | Inborn genetic diseases [RCV003363724] | uncertain significance | 1 | 201323050 | 201323050 | Human | 1 | name |
| 401882130 | CV2781482 | single nucleotide variant | NM_001005337.3(PKP1):c.1189G>T (p.Val397Leu) | Inborn genetic diseases [RCV003365165] | uncertain significance | 1 | 201318752 | 201318752 | Human | 1 | name |
| 11581595 | CV278418 | single nucleotide variant | NM_001005337.3(PKP1):c.1934G>A (p.Arg645Lys) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000376879]|Inborn genetic diseases [RCV004021411] | uncertain significance | 1 | 201325040 | 201325040 | Human | 2 | name |
| 11581437 | CV278485 | single nucleotide variant | NM_001005337.3(PKP1):c.1325C>T (p.Ala442Val) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000369788]|not provided [RCV000971465] | benign|uncertain significance | 1 | 201320359 | 201320359 | Human | 1 | name |
| 11577536 | CV278497 | single nucleotide variant | NM_001005337.3(PKP1):c.1585C>T (p.Arg529Cys) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000262373] | uncertain significance | 1 | 201323094 | 201323094 | Human | 1 | name |
| 11579794 | CV279630 | single nucleotide variant | NM_001005337.3(PKP1):c.1237C>A (p.Leu413Met) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000312725] | uncertain significance | 1 | 201320271 | 201320271 | Human | 1 | name |
| 11578568 | CV279631 | single nucleotide variant | NM_001005337.3(PKP1):c.1938C>A (p.Asn646Lys) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000284164] | uncertain significance | 1 | 201325044 | 201325044 | Human | 1 | name |
| 11578254 | CV279759 | single nucleotide variant | NM_001005337.3(PKP1):c.1336T>C (p.Cys446Arg) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000277584]|PKP1-related disorder [RCV003930221]|not provided [RCV000959527] | likely benign|uncertain significance | 1 | 201320370 | 201320370 | Human | 1 | name , trait , alternate_id |
| 11580699 | CV279773 | single nucleotide variant | NM_001005337.3(PKP1):c.2050C>T (p.Arg684Trp) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000341479]|not provided [RCV002059423] | benign|likely benign | 1 | 201325782 | 201325782 | Human | 1 | name |
| 11581668 | CV279785 | single nucleotide variant | NM_001005337.3(PKP1):c.2093G>A (p.Gly698Asp) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000379711] | uncertain significance | 1 | 201325825 | 201325825 | Human | 1 | name |
| 405043573 | CV3150251 | single nucleotide variant | NM_001005337.3(PKP1):c.1406T>C (p.Val469Ala) | not provided [RCV003849045] | uncertain significance | 1 | 201322036 | 201322036 | Human | | name |
| 405266583 | CV3213213 | single nucleotide variant | NM_001005337.3(PKP1):c.1586G>A (p.Arg529His) | PKP1-related disorder [RCV003969353]|not provided [RCV005102986] | likely benign | 1 | 201323095 | 201323095 | Human | 1 | name , trait , alternate_id |
| 405651429 | CV3365752 | single nucleotide variant | NM_001005337.3(PKP1):c.1030G>A (p.Ala344Thr) | Inborn genetic diseases [RCV004509263] | likely benign | 1 | 201317755 | 201317755 | Human | 1 | name |
| 405651431 | CV3365753 | single nucleotide variant | NM_001005337.3(PKP1):c.1265C>A (p.Thr422Asn) | Inborn genetic diseases [RCV004509264] | uncertain significance | 1 | 201320299 | 201320299 | Human | 1 | name |
| 405651591 | CV3365755 | single nucleotide variant | NM_001005337.3(PKP1):c.1361G>C (p.Cys454Ser) | Inborn genetic diseases [RCV004509266] | uncertain significance | 1 | 201321991 | 201321991 | Human | 1 | name |
| 405651587 | CV3365757 | single nucleotide variant | NM_001005337.3(PKP1):c.1454C>G (p.Thr485Ser) | Inborn genetic diseases [RCV004509268] | uncertain significance | 1 | 201322084 | 201322084 | Human | 1 | name |
| 407512666 | CV3460585 | single nucleotide variant | NM_001005337.3(PKP1):c.1264A>G (p.Thr422Ala) | Inborn genetic diseases [RCV004648507] | uncertain significance | 1 | 201320298 | 201320298 | Human | 1 | name |
| 407512668 | CV3460586 | single nucleotide variant | NM_001005337.3(PKP1):c.1446C>G (p.Asn482Lys) | Inborn genetic diseases [RCV004648508] | uncertain significance | 1 | 201322076 | 201322076 | Human | 1 | name |
| 407531157 | CV3460588 | single nucleotide variant | NM_001005337.3(PKP1):c.1283G>A (p.Gly428Glu) | Inborn genetic diseases [RCV004657448] | uncertain significance | 1 | 201320317 | 201320317 | Human | 1 | name |
| 408388048 | CV3520614 | single nucleotide variant | NM_001005337.3(PKP1):c.1342G>A (p.Asp448Asn) | not provided [RCV004761447] | uncertain significance | 1 | 201320376 | 201320376 | Human | | name |
| 597725509 | CV3569459 | single nucleotide variant | NM_001005337.3(PKP1):c.1162G>A (p.Asp388Asn) | Inborn genetic diseases [RCV004962093] | uncertain significance | 1 | 201318725 | 201318725 | Human | 1 | name |
| 597725527 | CV3569463 | single nucleotide variant | NM_001005337.3(PKP1):c.1850C>T (p.Pro617Leu) | Inborn genetic diseases [RCV004962096] | uncertain significance | 1 | 201324956 | 201324956 | Human | 1 | name |
| 597725538 | CV3569465 | single nucleotide variant | NM_001005337.3(PKP1):c.1918G>T (p.Ala640Ser) | Inborn genetic diseases [RCV004962098] | uncertain significance | 1 | 201325024 | 201325024 | Human | 1 | name |
| 597725548 | CV3569467 | single nucleotide variant | NM_001005337.3(PKP1):c.2120G>A (p.Arg707Lys) | Inborn genetic diseases [RCV004962100] | uncertain significance | 1 | 201328775 | 201328775 | Human | 1 | name |
| 597725552 | CV3569468 | single nucleotide variant | NM_001005337.3(PKP1):c.1160G>A (p.Cys387Tyr) | Inborn genetic diseases [RCV004962101] | uncertain significance | 1 | 201318723 | 201318723 | Human | 1 | name |
| 597725558 | CV3569469 | single nucleotide variant | NM_001005337.3(PKP1):c.1346A>G (p.Lys449Arg) | Inborn genetic diseases [RCV004962102] | uncertain significance | 1 | 201320380 | 201320380 | Human | 1 | name |
| 597725563 | CV3569470 | single nucleotide variant | NM_001005337.3(PKP1):c.1735A>C (p.Ile579Leu) | Inborn genetic diseases [RCV004962103] | uncertain significance | 1 | 201324482 | 201324482 | Human | 1 | name |
| 598168976 | CV4000111 | single nucleotide variant | NM_001005337.3(PKP1):c.1529C>T (p.Pro510Leu) | Inborn genetic diseases [RCV005391980] | uncertain significance | 1 | 201323038 | 201323038 | Human | 1 | name |
| 598168995 | CV4000115 | single nucleotide variant | NM_001005337.3(PKP1):c.1198C>G (p.Pro400Ala) | Inborn genetic diseases [RCV005391984] | uncertain significance | 1 | 201318761 | 201318761 | Human | 1 | name |
| 598169000 | CV4000116 | single nucleotide variant | NM_001005337.3(PKP1):c.1400C>T (p.Ala467Val) | Inborn genetic diseases [RCV005391985] | uncertain significance | 1 | 201322030 | 201322030 | Human | 1 | name |
| 598169004 | CV4000118 | single nucleotide variant | NM_001005337.3(PKP1):c.1783G>T (p.Ala595Ser) | Inborn genetic diseases [RCV005391986] | uncertain significance | 1 | 201324530 | 201324530 | Human | 1 | name |
| 598169007 | CV4000119 | single nucleotide variant | NM_001005337.3(PKP1):c.1767T>A (p.Asp589Glu) | Inborn genetic diseases [RCV005391987] | uncertain significance | 1 | 201324514 | 201324514 | Human | 1 | name |
| 598169012 | CV4000120 | single nucleotide variant | NM_001005337.3(PKP1):c.2125A>T (p.Met709Leu) | Inborn genetic diseases [RCV005391988] | uncertain significance | 1 | 201328780 | 201328780 | Human | 1 | name |
| 598210258 | CV4007987 | single nucleotide variant | NM_001005337.3(PKP1):c.1441C>T (p.Arg481Cys) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV005400301] | uncertain significance | 1 | 201322071 | 201322071 | Human | 1 | name |
| 12913165 | CV421198 | single nucleotide variant | NM_001005337.3(PKP1):c.1840C>T (p.Gln614Ter) | not provided [RCV000493473] | pathogenic | 1 | 201324946 | 201324946 | Human | | name |
| 15178228 | CV718512 | single nucleotide variant | NM_001005337.3(PKP1):c.1333C>T (p.Arg445Cys) | Inborn genetic diseases [RCV004659250]|not provided [RCV000885013] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 201320367 | 201320367 | Human | 1 | name |
| 28886663 | CV863274 | single nucleotide variant | NM_001005337.3(PKP1):c.1132C>T (p.Arg378Cys) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098531]|not provided [RCV002554926] | uncertain significance | 1 | 201318695 | 201318695 | Human | 1 | name |
| 28886670 | CV863276 | single nucleotide variant | NM_001005337.3(PKP1):c.1258C>T (p.Arg420Cys) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098533]|not provided [RCV005428074] | uncertain significance | 1 | 201320292 | 201320292 | Human | 1 | name |
| 28891747 | CV863278 | single nucleotide variant | NM_001005337.3(PKP1):c.1358A>G (p.Asn453Ser) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100296] | uncertain significance | 1 | 201321988 | 201321988 | Human | 1 | name |
| 28891755 | CV863280 | single nucleotide variant | NM_001005337.3(PKP1):c.1438G>A (p.Ala480Thr) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100298] | uncertain significance | 1 | 201322068 | 201322068 | Human | 1 | name |
| 28891759 | CV863281 | single nucleotide variant | NM_001005337.3(PKP1):c.1615A>G (p.Lys539Glu) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100299] | uncertain significance | 1 | 201323124 | 201323124 | Human | 1 | name |
| 28891762 | CV863282 | single nucleotide variant | NM_001005337.3(PKP1):c.1742G>A (p.Arg581His) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100300]|Inborn genetic diseases [RCV004032063]|not provided [RCV002554963] | benign|uncertain significance | 1 | 201324489 | 201324489 | Human | 2 | name |
| 28896599 | CV863283 | single nucleotide variant | NM_001005337.3(PKP1):c.1859C>T (p.Thr620Ile) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001102269] | uncertain significance | 1 | 201324965 | 201324965 | Human | 1 | name |
| 28896604 | CV863284 | single nucleotide variant | NM_001005337.3(PKP1):c.2015G>A (p.Arg672Gln) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001102270] | uncertain significance | 1 | 201325121 | 201325121 | Human | 1 | name |
| 28896608 | CV863285 | single nucleotide variant | NM_001005337.3(PKP1):c.2051G>A (p.Arg684Gln) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001102271]|not provided [RCV001355017] | uncertain significance | 1 | 201325783 | 201325783 | Human | 1 | name |
| 8560017 | CV22643 | duplication | NM_001005337.3(PKP1):c.1107_1134dup (p.Val379fs) | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000008042] | pathogenic | 1 | 201318667 | 201318668 | Human | 1 | name |
| 11595435 | CV278555 | microsatellite | NM_001005337.3(PKP1):c.*2569_*2571C[5]ACCCTGACCC[1] | Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000370663] | benign | 1 | 201332609 | 201332610 | Human | | name |
