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Links from MedGen

Items: 1 to 100 of 4261

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLEC
Single nucleotide variant
(splice acceptor variant)
Epidermolysis bullosa simplex with nail dystrophy
GLikely pathogenic
PLEC
(E1513fs +7 more)
Microsatellite
(frameshift variant)
Epidermolysis bullosa simplex with nail dystrophy
GUncertain significance
PLEC
(V2222fs +7 more)
Deletion
(frameshift variant)
Epidermolysis bullosa simplex with nail dystrophy
GLikely pathogenic
PLEC
(E2050fs +6 more)
Deletion
(frameshift variant +1 more)
Epidermolysis bullosa simplex with nail dystrophy
GLikely pathogenic
PLEC
Single nucleotide variant
(synonymous variant +1 more)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
Deletion
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GPathogenic
PLEC
(H530Y +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+4 more
GUncertain significance
PLEC
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+4 more
GLikely benign
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+4 more
GLikely benign
PLEC
Single nucleotide variant
(synonymous variant +1 more)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
(Q473R +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+4 more
GUncertain significance
PLEC
(R1060C +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 5C, with pyloric atresia
+4 more
GUncertain significance
PLEC
(G1702S +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 5C, with pyloric atresia
+5 more
GUncertain significance
PLEC
(Y329C +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 5C, with pyloric atresia
+4 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex 5C, with pyloric atresia
+4 more
GLikely benign
PLEC
(R147* +6 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2Q
+4 more
GPathogenic
PLEC
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2Q
+4 more
GLikely benign
PLEC
(R755W +6 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2Q
+4 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2Q
+4 more
GLikely benign
PLEC
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2Q
+4 more
GLikely benign
PLEC
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2Q
+4 more
GLikely benign
PLEC
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2Q
+4 more
GLikely benign
PLEC
(K3333R +7 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2Q
+4 more
GUncertain significance
LOC130001334, PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex 5C, with pyloric atresia
+4 more
GLikely benign
PLEC
(Y2728C +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 5C, with pyloric atresia
+4 more
GUncertain significance
PLEC
(R3617H +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+2 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
(R4304Q +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
(R1337H +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
(A1776P +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(A700T +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
(R4055H +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
LOC130001334, PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
(Q2538R +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
(R3348W +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+5 more
GUncertain significance
PLEC
Deletion
(inframe_deletion +1 more)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(R4184C +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(R714G +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(D303Y +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
Duplication
(inframe_insertion +1 more)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
Single nucleotide variant
(synonymous variant +1 more)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(I3129V +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(D2174E +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
Duplication
(inframe_insertion)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(M371T +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(P4375S +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(R1876W +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(S866R +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(R4139C +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(E3282K +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(R2493P +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(P3760L +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(E2194K +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+5 more
GUncertain significance
PLEC
(Q2597R +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(F2785L +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(R3403C +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+5 more
GUncertain significance
PLEC
(K2150Q +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
Single nucleotide variant
(synonymous variant +1 more)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
Single nucleotide variant
(synonymous variant +1 more)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
(A843V +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(L2756fs +6 more)
Deletion
(frameshift variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GPathogenic
PLEC
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
(R2906W +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(E1731Q +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
Duplication
(inframe_insertion)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(D2164G +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(V1535M +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(S3776del +7 more)
Microsatellite
(inframe_deletion +1 more)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant +1 more)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
(G4527A +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
(R20C +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(R1374L +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
(M456I +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(R775H +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
(R4331H +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant +1 more)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
(G3141S +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant +1 more)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
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