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Items: 1 to 100 of 4251

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr8:144998322
GRCh38:
Chr8:143924154
PLECEpidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia, Epidermolysis bullosa simplex, Ogna type,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
Likely benign
(Apr 4, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr8:145047551-145049537
PLECEpidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia, Epidermolysis bullosa simplex, Ogna type,
Epidermolysis bullosa simplex 5B, with muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
Pathogenic
(Oct 25, 2021)
criteria provided, single submitter
3.
GRCh37:
Chr8:145007014
GRCh38:
Chr8:143932846
PLECH530Y, H540Y, H548Y, H562Y, H566Y, H589Y, H699YEpidermolysis bullosa simplex 5B, with muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Epidermolysis bullosa simplex, Ogna type
Uncertain significance
(Feb 3, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr8:145009115
GRCh38:
Chr8:143934947
PLECEpidermolysis bullosa simplex 5B, with muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Epidermolysis bullosa simplex, Ogna type
Likely benign
(Oct 17, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr8:145001926
GRCh38:
Chr8:143927758
PLECEpidermolysis bullosa simplex 5B, with muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Epidermolysis bullosa simplex, Ogna type
Likely benign
(Oct 13, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr8:144999681
GRCh38:
Chr8:143925513
PLECEpidermolysis 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
7.
GRCh37:
Chr8:145007184
GRCh38:
Chr8:143933016
PLECQ473R, Q483R, Q491R, Q505R, Q509R, Q532R, Q642REpidermolysis bullosa simplex 5B, with muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Epidermolysis bullosa simplex, Ogna type
Uncertain significance
(Feb 21, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr8:145003970
GRCh38:
Chr8:143929802
PLECR1060C, R891C, R901C, R909C, R923C, R927C, R950CEpidermolysis bullosa simplex 5C, with pyloric atresia, Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex, Ogna type
Uncertain significance
(May 3, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr8:144995585
GRCh38:
Chr8:143921417
PLECG1702S, G2770S, G2780S, G2788S, G2802S, G2806S, G2829S, G2939SEpidermolysis bullosa simplex 5C, with pyloric atresia, Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex, Ogna type, Inborn genetic diseases
Uncertain significance
(Mar 24, 2023)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr8:145008573
GRCh38:
Chr8:143934405
PLECY329C, Y339C, Y347C, Y361C, Y365C, Y388C, Y498CEpidermolysis bullosa simplex 5C, with pyloric atresia, Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex, Ogna type
Uncertain significance
(Jun 1, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr8:145012364
GRCh38:
Chr8:143938196
PLECEpidermolysis bullosa simplex 5C, with pyloric atresia, Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex, Ogna type
Likely benign
(Sep 12, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr8:145010083
GRCh38:
Chr8:143935915
PLECR147*, R157*, R165*, R179*, R183*, R206*, R316*Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy
Pathogenic
(Aug 7, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr8:144994011
GRCh38:
Chr8:143919843
PLECAutosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy
Likely benign
(Jul 24, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr8:145004650
GRCh38:
Chr8:143930482
PLECR755W, R765W, R773W, R787W, R791W, R814W, R924WAutosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy
Uncertain significance
(Sep 10, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr8:145007222
GRCh38:
Chr8:143933054
PLECAutosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy
Likely benign
(Aug 6, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr8:144992733
GRCh38:
Chr8:143918565
PLECAutosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy
Likely benign
(Feb 14, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr8:144998754
GRCh38:
Chr8:143924586
PLECAutosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy
Likely benign
(Jul 9, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr8:144991023
GRCh38:
Chr8:143916855
PLECAutosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy
Likely benign
(Jul 9, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr8:144990691
GRCh38:
Chr8:143916523
PLECK3333R, K4401R, K4411R, K4419R, K4433R, K4437R, K4460R, K4570RAutosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy
Uncertain significance
(Dec 23, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr8:145008175
GRCh38:
Chr8:143934007
LOC130001334, PLECEpidermolysis bullosa simplex 5C, with pyloric atresia, Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy,
Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q
Likely benign
(Mar 1, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr8:144992506
GRCh38:
Chr8:143918338
PLECY2728C, Y3796C, Y3806C, Y3814C, Y3828C, Y3832C, Y3855C, Y3965CEpidermolysis bullosa simplex 5C, with pyloric atresia, Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B, with muscular dystrophy,
Epidermolysis bullosa simplex, Ogna type, Autosomal recessive limb-girdle muscular dystrophy type 2Q
Uncertain significance
(Aug 19, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr8:145006688
GRCh38:
Chr8:143932520
PLECEpidermolysis 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
23.
GRCh37:
Chr8:144991090
GRCh38:
Chr8:143916922
PLECR4304Q, R4437Q, R4268Q, R4286Q, R4327Q, R4278Q, R4300Q, R3200QEpidermolysis 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
24.
GRCh37:
Chr8:145007418
GRCh38:
Chr8:143933250
PLECEpidermolysis 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
25.
GRCh37:
Chr8:145001735
GRCh38:
Chr8:143927567
PLECR1337H, R1227H, R1168H, R1178H, R1204H, R1186H, R1200HEpidermolysis 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
26.
GRCh37:
Chr8:145006897
GRCh38:
Chr8:143932729
PLECEpidermolysis 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
27.
GRCh37:
Chr8:144991968
GRCh38:
Chr8:143917800
PLECEpidermolysis 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
28.
GRCh37:
Chr8:144998675
GRCh38:
Chr8:143924507
PLECA1776P, A1835P, A1945P, A1794P, A1786P, A1808P, A1812PEpidermolysis 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
29.
GRCh37:
Chr8:145006119
GRCh38:
Chr8:143931951
PLECA700T, A708T, A749T, A690T, A859T, A726T, A722TEpidermolysis 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
30.
GRCh37:
Chr8:145012300
GRCh38:
Chr8:143938132
PLECEpidermolysis 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
31.
GRCh37:
Chr8:144991783
GRCh38:
Chr8:143917615
PLECR4055H, R4206H, R4047H, R4073H, R2969H, R4037H, R4096H, R4069HEpidermolysis 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
32.
GRCh37:
Chr8:145012424
GRCh38:
Chr8:143938256
PLECEpidermolysis 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
33.
GRCh37:
Chr8:145008184
GRCh38:
Chr8:143934016
LOC130001334, PLECEpidermolysis 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
34.
GRCh37:
Chr8:144996280
GRCh38:
Chr8:143922112
PLECQ2538R, Q2570R, Q2597R, Q2707R, Q2548R, Q2556R, Q1470R, Q2574REpidermolysis 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
35.
GRCh37:
Chr8:144995652
GRCh38:
Chr8:143921484
PLECEpidermolysis 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
36.
GRCh37:
Chr8:144993947
GRCh38:
Chr8:143919779
PLECR3348W, R2248W, R3334W, R3316W, R3326W, R3352W, R3375W, R3485Wnot 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
37.
GRCh37:
Chr8:144996350-144996370
GRCh38:
Chr8:143922182-143922202
PLECEpidermolysis 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
38.
GRCh37:
Chr8:144991397
GRCh38:
Chr8:143917229
PLECR4184C, R4198C, R4335C, R4202C, R4225C, R4176C, R3098C, R4166CEpidermolysis 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
39.
GRCh37:
Chr8:145005770
GRCh38:
Chr8:143931602
PLECR714G, R724G, R732G, R750G, R883G, R746G, R773GEpidermolysis 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
40.
GRCh37:
Chr8:145008841
GRCh38:
Chr8:143934673
PLECD303Y, D313Y, D362Y, D472Y, D335Y, D339Y, D321YEpidermolysis 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
41.
GRCh37:
Chr8:144995304-144995305
GRCh38:
Chr8:143921136-143921137
PLECEpidermolysis 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
42.
GRCh37:
Chr8:145011422
GRCh38:
Chr8:143937254
PLECEpidermolysis 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
43.
GRCh37:
Chr8:144997533
GRCh38:
Chr8:143923365
PLECEpidermolysis 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
44.
GRCh37:
Chr8:145008967
GRCh38:
Chr8:143934799
PLECEpidermolysis 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
45.
GRCh37:
Chr8:145005844
GRCh38:
Chr8:143931676
PLECEpidermolysis 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
46.
GRCh37:
Chr8:144991304
GRCh38:
Chr8:143917136
PLECI3129V, I4233V, I4197V, I4207V, I4366V, I4215V, I4229V, I4256VEpidermolysis 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
47.
GRCh37:
Chr8:144997479
GRCh38:
Chr8:143923311
PLECD2174E, D2184E, D2233E, D2343E, D2192E, D2206E, D2210EEpidermolysis 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
48.
GRCh37:
Chr8:145009436
GRCh38:
Chr8:143935268
PLECEpidermolysis 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
49.
GRCh37:
Chr8:144991974
GRCh38:
Chr8:143917806
PLECEpidermolysis 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
50.
GRCh37:
Chr8:145001677
GRCh38:
Chr8:143927509
PLECEpidermolysis 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
51.
GRCh37:
Chr8:144997704-144997705
GRCh38:
Chr8:143923536-143923537
PLECEpidermolysis 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
52.
GRCh37:
Chr8:145008221
GRCh38:
Chr8:143934053
PLECM371T, M389T, M407T, M381T, M430T, M403T, M540TEpidermolysis 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
53.
GRCh37:
Chr8:144990770
GRCh38:
Chr8:143916602
PLECP4375S, P4385S, P4411S, P4393S, P3307S, P4407S, P4434S, P4544SEpidermolysis 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
54.
GRCh37:
Chr8:144998375
GRCh38:
Chr8:143924207
PLECR1876W, R1894W, R1908W, R2045W, R1886W, R1935W, R1912WEpidermolysis 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
55.
GRCh37:
Chr8:145004151
GRCh38:
Chr8:143929983
PLECS866R, S884R, S902R, S1035R, S898R, S925R, S876REpidermolysis 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
56.
GRCh37:
Chr8:144991574
GRCh38:
Chr8:143917406
PLECR4139C, R3039C, R4143C, R4107C, R4125C, R4117C, R4166C, R4276CEpidermolysis 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
57.
GRCh37:
Chr8:144990845
GRCh38:
Chr8:143916677
PLECE3282K, E4368K, E4409K, E4382K, E4519K, E4386K, E4350K, E4360KEpidermolysis 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
58.
GRCh37:
Chr8:144996469
GRCh38:
Chr8:143922301
PLECR2493P, R2534P, R2475P, R2485P, R2507P, R1407P, R2511P, R2644PEpidermolysis 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
59.
GRCh37:
Chr8:144992614
GRCh38:
Chr8:143918446
PLECP3760L, P3770L, P3792L, P2692L, P3778L, P3819L, P3796L, P3929LEpidermolysis 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
60.
GRCh37:
Chr8:144994109
GRCh38:
Chr8:143919941
PLECE2194K, E3298K, E3272K, E3280K, E3431K, E3294K, E3262K, E3321KEpidermolysis 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
61.
GRCh37:
Chr8:144996133
GRCh38:
Chr8:143921965
PLECQ2597R, Q2605R, Q2623R, Q2646R, Q2756R, Q1519R, Q2619R, Q2587REpidermolysis 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
62.
GRCh37:
Chr8:144992334
GRCh38:
Chr8:143918166
PLECF2785L, F3885L, F3889L, F3863L, F3853L, F3871L, F3912L, F4022LEpidermolysis 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
63.
GRCh37:
Chr8:144990482
GRCh38:
Chr8:143916314
PLECR3403C, R4481C, R4507C, R4530C, R4489C, R4503C, R4471C, R4640CEpidermolysis 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
64.
GRCh37:
Chr8:144997583
GRCh38:
Chr8:143923415
PLECK2150Q, K2158Q, K2176Q, K2172Q, K2309Q, K2199Q, K2140QEpidermolysis 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
65.
GRCh37:
Chr8:145004084
GRCh38:
Chr8:143929916
PLECEpidermolysis 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
66.
GRCh37:
Chr8:145002174
GRCh38:
Chr8:143928006
PLECEpidermolysis 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
67.
GRCh37:
Chr8:144994848
GRCh38:
Chr8:143920680
PLECEpidermolysis 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
68.
GRCh37:
Chr8:144999669
GRCh38:
Chr8:143925501
PLECEpidermolysis 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
69.
GRCh37:
Chr8:144998241
GRCh38:
Chr8:143924073
PLECEpidermolysis 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
70.
GRCh37:
Chr8:145004330
GRCh38:
Chr8:143930162
PLECA843V, A869V, A1002V, A865V, A892V, A833V, A851VEpidermolysis 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
71.
GRCh37:
Chr8:144995623-144995626
GRCh38:
Chr8:143921455-143921458
PLECL2756fs, L2774fs, L2792fs, L2766fs, L2815fs, L2788fs, L2925fsEpidermolysis 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
72.
GRCh37:
Chr8:145004086
GRCh38:
Chr8:143929918
PLECEpidermolysis 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
73.
GRCh37:
Chr8:144995177
GRCh38:
Chr8:143921009
PLECR2906W, R2938W, R2942W, R1838W, R2916W, R2924W, R3075W, R2965WEpidermolysis 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
74.
GRCh37:
Chr8:144998810
GRCh38:
Chr8:143924642
PLECE1731Q, E1741Q, E1763Q, E1767Q, E1749Q, E1790Q, E1900QEpidermolysis 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
75.
GRCh37:
Chr8:144999449-144999450
GRCh38:
Chr8:143925281-143925282
PLECEpidermolysis 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
76.
GRCh37:
Chr8:144997606
GRCh38:
Chr8:143923438
PLECD2164G, D2132G, D2168G, D2301G, D2142G, D2150G, D2191GEpidermolysis 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
77.
GRCh37:
Chr8:144999428
GRCh38:
Chr8:143925260
PLECV1535M, V1543M, V1557M, V1694M, V1561M, V1584M, V1525MEpidermolysis 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
78.
GRCh37:
Chr8:144993071-144993073
GRCh38:
Chr8:143918903-143918905
PLECS3776del, S3639del, S3643del, S2539del, S3607del, S3617del, S3625del, S3666delEpidermolysis 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
79.
GRCh37:
Chr8:144997491
GRCh38:
Chr8:143923323
PLECEpidermolysis 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
80.
GRCh37:
Chr8:144991860
GRCh38:
Chr8:143917692
PLECEpidermolysis 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
81.
GRCh37:
Chr8:144990367
GRCh38:
Chr8:143916199
PLECG4527A, G4568A, G4678A, G3441A, G4509A, G4541A, G4545A, G4519AEpidermolysis 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
82.
GRCh37:
Chr8:145003749
GRCh38:
Chr8:143929581
PLECEpidermolysis 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
83.
GRCh37:
Chr8:145012849
GRCh38:
Chr8:143938681
PLECR20C, R42C, R10C, R179C, R46C, R69C, R28CEpidermolysis 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
84.
GRCh37:
Chr8:144999934
GRCh38:
Chr8:143925766
PLECR1374L, R1388L, R1366L, R1415L, R1356L, R1392L, R1525LEpidermolysis 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
85.
GRCh37:
Chr8:144991551
GRCh38:
Chr8:143917383
PLECEpidermolysis 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
86.
GRCh37:
Chr8:145007373
GRCh38:
Chr8:143933205
PLECM456I, M497I, M438I, M448I, M474I, M470I, M607IEpidermolysis 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
87.
GRCh37:
Chr8:145004619
GRCh38:
Chr8:143930451
PLECR775H, R797H, R801H, R783H, R934H, R765H, R824HEpidermolysis 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
88.
GRCh37:
Chr8:144994967
GRCh38:
Chr8:143920799
PLECEpidermolysis 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
89.
GRCh37:
Chr8:144990498
GRCh38:
Chr8:143916330
PLECEpidermolysis 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
90.
GRCh37:
Chr8:144993315
GRCh38:
Chr8:143919147
PLECEpidermolysis 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
91.
GRCh37:
Chr8:144995730
GRCh38:
Chr8:143921562
PLECEpidermolysis 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
92.
GRCh37:
Chr8:144990901
GRCh38:
Chr8:143916733
PLECR4331H, R4349H, R4367H, R4390H, R4500H, R3263H, R4341H, R4363HEpidermolysis 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
93.
GRCh37:
Chr8:144999300
GRCh38:
Chr8:143925132
PLECEpidermolysis 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
94.
GRCh37:
Chr8:144994568
GRCh38:
Chr8:143920400
PLECG3141S, G3109S, G3168S, G3278S, G3119S, G3127S, G3145S, G2041SEpidermolysis 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
95.
GRCh37:
Chr8:144998553
GRCh38:
Chr8:143924385
PLECEpidermolysis 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
96.
GRCh37:
Chr8:144994939
GRCh38:
Chr8:143920771
PLECR3017Q, R2985Q, R2995Q, R3021Q, R3154Q, R1917Q, R3003Q, R3044QEpidermolysis 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
97.
GRCh37:
Chr8:144996021-144996025
GRCh38:
Chr8:143921853-143921857
PLECA2623fs, A2655fs, A2682fs, A2633fs, A2792fs, A2641fs, A2659fsEpidermolysis 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
98.
GRCh37:
Chr8:145010170
GRCh38:
Chr8:143936002
PLECQ150*, 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
99.
GRCh37:
Chr8:144996448
GRCh38:
Chr8:143922280
PLECA1414G, A2651G, A2482G, A2500G, A2518G, A2514G, A2541G, A2492GEpidermolysis 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
100.
GRCh37:
Chr8:144999427
GRCh38:
Chr8:143925259
PLECV1543A, V1557A, V1525A, V1535A, V1584A, V1561A, V1694AEpidermolysis 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
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