| - GRCh37:
- Chr8:144999194
- GRCh38:
- Chr8:143925026
| PLEC | Q1603*, Q1613*, Q1621*, Q1635*, Q1639*, Q1662*, Q1772* | Epidermolysis bullosa simplex 5B, with muscular dystrophy | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr8:144998322
- GRCh38:
- Chr8:143924154
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex, Ogna type,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Autosomal recessive limb-girdle muscular dystrophy type 2Q | Likely benign
(Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145047551-145049537
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex, Ogna type,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Autosomal recessive limb-girdle muscular dystrophy type 2Q | Pathogenic
(Oct 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145007014
- GRCh38:
- Chr8:143932846
| PLEC | H530Y, H540Y, H548Y, H562Y, H566Y, H589Y, H699Y | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex, Ogna type,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Autosomal recessive limb-girdle muscular dystrophy type 2Q | Uncertain significance
(Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145009115
- GRCh38:
- Chr8:143934947
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex, Ogna type,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Autosomal recessive limb-girdle muscular dystrophy type 2Q | Likely benign
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145001926
- GRCh38:
- Chr8:143927758
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex, Ogna type,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Autosomal recessive limb-girdle muscular dystrophy type 2Q | Likely benign
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144999681
- GRCh38:
- Chr8:143925513
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex, Ogna type,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Autosomal recessive limb-girdle muscular dystrophy type 2Q | Likely benign
(Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145007184
- GRCh38:
- Chr8:143933016
| PLEC | Q473R, Q483R, Q491R, Q505R, Q509R, Q532R, Q642R | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex, Ogna type,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Autosomal recessive limb-girdle muscular dystrophy type 2Q | Uncertain significance
(Feb 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145003970
- GRCh38:
- Chr8:143929802
| PLEC | R1060C, R891C, R901C, R909C, R923C, R927C, R950C | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex, Ogna type,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Autosomal recessive limb-girdle muscular dystrophy type 2Q | Uncertain significance
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144995585
- GRCh38:
- Chr8:143921417
| PLEC | G1702S, G2770S, G2780S, G2788S, G2802S, G2806S, G2829S, G2939S | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex, Ogna type,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Autosomal recessive limb-girdle muscular dystrophy type 2Q, Inborn genetic diseases
| Uncertain significance
(Mar 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:145008573
- GRCh38:
- Chr8:143934405
| PLEC | Y329C, Y339C, Y347C, Y361C, Y365C, Y388C, Y498C | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex, Ogna type,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Autosomal recessive limb-girdle muscular dystrophy type 2Q | Uncertain significance
(Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145012364
- GRCh38:
- Chr8:143938196
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex, Ogna type,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Autosomal recessive limb-girdle muscular dystrophy type 2Q | Likely benign
(Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145010083
- GRCh38:
- Chr8:143935915
| PLEC | R147*, R157*, R165*, R179*, R183*, R206*, R316* | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex, Ogna type,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Autosomal recessive limb-girdle muscular dystrophy type 2Q | Pathogenic
(Aug 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144994011
- GRCh38:
- Chr8:143919843
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex, Ogna type,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Autosomal recessive limb-girdle muscular dystrophy type 2Q | Likely benign
(Jul 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145004650
- GRCh38:
- Chr8:143930482
| PLEC | R755W, R765W, R773W, R787W, R791W, R814W, R924W | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex, Ogna type,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Autosomal recessive limb-girdle muscular dystrophy type 2Q | Uncertain significance
(Sep 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145007222
- GRCh38:
- Chr8:143933054
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex, Ogna type,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Autosomal recessive limb-girdle muscular dystrophy type 2Q | Likely benign
(Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144992733
- GRCh38:
- Chr8:143918565
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex, Ogna type,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Autosomal recessive limb-girdle muscular dystrophy type 2Q | Likely benign
(Feb 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144998754
- GRCh38:
- Chr8:143924586
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex, Ogna type,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Autosomal recessive limb-girdle muscular dystrophy type 2Q | Likely benign
(Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144991023
- GRCh38:
- Chr8:143916855
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex, Ogna type,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Autosomal recessive limb-girdle muscular dystrophy type 2Q | Likely benign
(Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144990691
- GRCh38:
- Chr8:143916523
| PLEC | K3333R, K4401R, K4411R, K4419R, K4433R, K4437R, K4460R, K4570R | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex, Ogna type,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Autosomal recessive limb-girdle muscular dystrophy type 2Q | Uncertain significance
(Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145008175
- GRCh38:
- Chr8:143934007
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex, Ogna type,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Autosomal recessive limb-girdle muscular dystrophy type 2Q | Likely benign
(Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144992506
- GRCh38:
- Chr8:143918338
| PLEC | Y2728C, Y3796C, Y3806C, Y3814C, Y3828C, Y3832C, Y3855C, Y3965C | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex, Ogna type,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Autosomal recessive limb-girdle muscular dystrophy type 2Q | Uncertain significance
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145006688
- GRCh38:
- Chr8:143932520
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Likely benign
(Apr 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144991090
- GRCh38:
- Chr8:143916922
| PLEC | R4304Q, R4437Q, R4268Q, R4286Q, R4327Q, R4278Q, R4300Q, R3200Q | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Uncertain significance
(Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145007418
- GRCh38:
- Chr8:143933250
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Likely benign
(May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145001735
- GRCh38:
- Chr8:143927567
| PLEC | R1337H, R1227H, R1168H, R1178H, R1204H, R1186H, R1200H | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Uncertain significance
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145006897
- GRCh38:
- Chr8:143932729
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Likely benign
(Jan 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144991968
- GRCh38:
- Chr8:143917800
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Likely benign
(Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144998675
- GRCh38:
- Chr8:143924507
| PLEC | A1776P, A1835P, A1945P, A1794P, A1786P, A1808P, A1812P | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Uncertain significance
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145006119
- GRCh38:
- Chr8:143931951
| PLEC | A700T, A708T, A749T, A690T, A859T, A726T, A722T | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Uncertain significance
(Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145012300
- GRCh38:
- Chr8:143938132
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Likely benign
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144991783
- GRCh38:
- Chr8:143917615
| PLEC | R4055H, R4206H, R4047H, R4073H, R2969H, R4037H, R4096H, R4069H | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Uncertain significance
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145012424
- GRCh38:
- Chr8:143938256
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Likely benign
(Jan 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145008184
- GRCh38:
- Chr8:143934016
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Likely benign
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144996280
- GRCh38:
- Chr8:143922112
| PLEC | Q2538R, Q2570R, Q2597R, Q2707R, Q2548R, Q2556R, Q1470R, Q2574R | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Uncertain significance
(Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144995652
- GRCh38:
- Chr8:143921484
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Likely benign
(Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144993947
- GRCh38:
- Chr8:143919779
| PLEC | R3348W, R2248W, R3334W, R3316W, R3326W, R3352W, R3375W, R3485W | not provided, Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia
| Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:144996350-144996370
- GRCh38:
- Chr8:143922182-143922202
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Uncertain significance
(Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144991397
- GRCh38:
- Chr8:143917229
| PLEC | R4184C, R4198C, R4335C, R4202C, R4225C, R4176C, R3098C, R4166C | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Uncertain significance
(Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145005770
- GRCh38:
- Chr8:143931602
| PLEC | R714G, R724G, R732G, R750G, R883G, R746G, R773G | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Uncertain significance
(Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145008841
- GRCh38:
- Chr8:143934673
| PLEC | D303Y, D313Y, D362Y, D472Y, D335Y, D339Y, D321Y | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Uncertain significance
(Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144995304-144995305
- GRCh38:
- Chr8:143921136-143921137
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Uncertain significance
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145011422
- GRCh38:
- Chr8:143937254
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Likely benign
(Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144997533
- GRCh38:
- Chr8:143923365
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Likely benign
(Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145008967
- GRCh38:
- Chr8:143934799
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Likely benign
(Sep 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145005844
- GRCh38:
- Chr8:143931676
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Uncertain significance
(Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144991304
- GRCh38:
- Chr8:143917136
| PLEC | I3129V, I4233V, I4197V, I4207V, I4366V, I4215V, I4229V, I4256V | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Uncertain significance
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144997479
- GRCh38:
- Chr8:143923311
| PLEC | D2174E, D2184E, D2233E, D2343E, D2192E, D2206E, D2210E | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Uncertain significance
(Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145009436
- GRCh38:
- Chr8:143935268
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Likely benign
(May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144991974
- GRCh38:
- Chr8:143917806
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Likely benign
(Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145001677
- GRCh38:
- Chr8:143927509
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia | Likely benign
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144997704-144997705
- GRCh38:
- Chr8:143923536-143923537
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Dec 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145008221
- GRCh38:
- Chr8:143934053
| PLEC | M371T, M389T, M407T, M381T, M430T, M403T, M540T | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144990770
- GRCh38:
- Chr8:143916602
| PLEC | P4375S, P4385S, P4411S, P4393S, P3307S, P4407S, P4434S, P4544S | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144998375
- GRCh38:
- Chr8:143924207
| PLEC | R1876W, R1894W, R1908W, R2045W, R1886W, R1935W, R1912W | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145004151
- GRCh38:
- Chr8:143929983
| PLEC | S866R, S884R, S902R, S1035R, S898R, S925R, S876R | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144991574
- GRCh38:
- Chr8:143917406
| PLEC | R4139C, R3039C, R4143C, R4107C, R4125C, R4117C, R4166C, R4276C | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144990845
- GRCh38:
- Chr8:143916677
| PLEC | E3282K, E4368K, E4409K, E4382K, E4519K, E4386K, E4350K, E4360K | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144996469
- GRCh38:
- Chr8:143922301
| PLEC | R2493P, R2534P, R2475P, R2485P, R2507P, R1407P, R2511P, R2644P | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144992614
- GRCh38:
- Chr8:143918446
| PLEC | P3760L, P3770L, P3792L, P2692L, P3778L, P3819L, P3796L, P3929L | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144994109
- GRCh38:
- Chr8:143919941
| PLEC | E2194K, E3298K, E3272K, E3280K, E3431K, E3294K, E3262K, E3321K | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy, not provided
| Uncertain significance
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:144996133
- GRCh38:
- Chr8:143921965
| PLEC | Q2597R, Q2605R, Q2623R, Q2646R, Q2756R, Q1519R, Q2619R, Q2587R | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144992334
- GRCh38:
- Chr8:143918166
| PLEC | F2785L, F3885L, F3889L, F3863L, F3853L, F3871L, F3912L, F4022L | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144990482
- GRCh38:
- Chr8:143916314
| PLEC | R3403C, R4481C, R4507C, R4530C, R4489C, R4503C, R4471C, R4640C | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy, not provided
| Uncertain significance
(Jan 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:144997583
- GRCh38:
- Chr8:143923415
| PLEC | K2150Q, K2158Q, K2176Q, K2172Q, K2309Q, K2199Q, K2140Q | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145004084
- GRCh38:
- Chr8:143929916
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Likely benign
(Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145002174
- GRCh38:
- Chr8:143928006
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Likely benign
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144994848
- GRCh38:
- Chr8:143920680
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Likely benign
(Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144999669
- GRCh38:
- Chr8:143925501
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Likely benign
(Dec 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144998241
- GRCh38:
- Chr8:143924073
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Likely benign
(Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145004330
- GRCh38:
- Chr8:143930162
| PLEC | A843V, A869V, A1002V, A865V, A892V, A833V, A851V | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Dec 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144995623-144995626
- GRCh38:
- Chr8:143921455-143921458
| PLEC | L2756fs, L2774fs, L2792fs, L2766fs, L2815fs, L2788fs, L2925fs | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Pathogenic
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145004086
- GRCh38:
- Chr8:143929918
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Likely benign
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144995177
- GRCh38:
- Chr8:143921009
| PLEC | R2906W, R2938W, R2942W, R1838W, R2916W, R2924W, R3075W, R2965W | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(May 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144998810
- GRCh38:
- Chr8:143924642
| PLEC | E1731Q, E1741Q, E1763Q, E1767Q, E1749Q, E1790Q, E1900Q | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Apr 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144999449-144999450
- GRCh38:
- Chr8:143925281-143925282
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144997606
- GRCh38:
- Chr8:143923438
| PLEC | D2164G, D2132G, D2168G, D2301G, D2142G, D2150G, D2191G | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144999428
- GRCh38:
- Chr8:143925260
| PLEC | V1535M, V1543M, V1557M, V1694M, V1561M, V1584M, V1525M | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144993071-144993073
- GRCh38:
- Chr8:143918903-143918905
| PLEC | S3776del, S3639del, S3643del, S2539del, S3607del, S3617del, S3625del, S3666del | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144997491
- GRCh38:
- Chr8:143923323
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Likely benign
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144991860
- GRCh38:
- Chr8:143917692
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Likely benign
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144990367
- GRCh38:
- Chr8:143916199
| PLEC | G4527A, G4568A, G4678A, G3441A, G4509A, G4541A, G4545A, G4519A | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Dec 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145003749
- GRCh38:
- Chr8:143929581
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Likely benign
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145012849
- GRCh38:
- Chr8:143938681
| PLEC | R20C, R42C, R10C, R179C, R46C, R69C, R28C | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144999934
- GRCh38:
- Chr8:143925766
| PLEC | R1374L, R1388L, R1366L, R1415L, R1356L, R1392L, R1525L | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144991551
- GRCh38:
- Chr8:143917383
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Likely benign
(May 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145007373
- GRCh38:
- Chr8:143933205
| PLEC | M456I, M497I, M438I, M448I, M474I, M470I, M607I | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145004619
- GRCh38:
- Chr8:143930451
| PLEC | R775H, R797H, R801H, R783H, R934H, R765H, R824H | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144994967
- GRCh38:
- Chr8:143920799
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Likely benign
(Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144990498
- GRCh38:
- Chr8:143916330
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Likely benign
(Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144993315
- GRCh38:
- Chr8:143919147
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Likely benign
(Sep 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144995730
- GRCh38:
- Chr8:143921562
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Likely benign
(Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144990901
- GRCh38:
- Chr8:143916733
| PLEC | R4331H, R4349H, R4367H, R4390H, R4500H, R3263H, R4341H, R4363H | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144999300
- GRCh38:
- Chr8:143925132
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Likely benign
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144994568
- GRCh38:
- Chr8:143920400
| PLEC | G3141S, G3109S, G3168S, G3278S, G3119S, G3127S, G3145S, G2041S | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144998553
- GRCh38:
- Chr8:143924385
| PLEC | | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Likely benign
(Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144994939
- GRCh38:
- Chr8:143920771
| PLEC | R3017Q, R2985Q, R2995Q, R3021Q, R3154Q, R1917Q, R3003Q, R3044Q | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144996021-144996025
- GRCh38:
- Chr8:143921853-143921857
| PLEC | A2623fs, A2655fs, A2682fs, A2633fs, A2792fs, A2641fs, A2659fs | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Pathogenic
(Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145010170
- GRCh38:
- Chr8:143936002
| PLEC | Q150*, Q287*, Q154*, Q118*, Q128*, Q136*, Q177* | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Pathogenic
(Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:144996448
- GRCh38:
- Chr8:143922280
| PLEC | A1414G, A2651G, A2482G, A2500G, A2518G, A2514G, A2541G, A2492G | Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B, with muscular dystrophy | Uncertain significance
(Feb 9, 2022) | criteria provided, single submitter |