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Links from MedGen

Items: 1 to 100 of 4901

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLEC
(L589P +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex, Ogna type
+4 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex, Ogna type
+4 more
GLikely benign
PLEC
(Q2037R +6 more)
Single nucleotide variant
(missense variant +1 more)
Epidermolysis bullosa simplex, Ogna type
+4 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant +1 more)
Epidermolysis bullosa simplex, Ogna type
+4 more
GLikely benign
PLEC
(A3362P +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex, Ogna type
+4 more
GUncertain significance
PLEC
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex, Ogna type
+4 more
GLikely benign
PLEC
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex, Ogna type
+4 more
GLikely benign
PLEC
(T2947M +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex, Ogna type
+4 more
GUncertain significance
PLEC
(L2624P +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex, Ogna type
+4 more
GUncertain significance
PLEC
(E2654K +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
(E3310K +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
(I2271V +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(H1076N +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(E3572* +7 more)
Single nucleotide variant
(nonsense)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GPathogenic
PLEC
(S718R +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(R1324L +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(E2424K +6 more)
Single nucleotide variant
(missense variant +1 more)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(A2576D +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(Y4508S +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
PLEC
(D238N +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
(T2630fs +7 more)
Duplication
(frameshift variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GPathogenic
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
(A2625G +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
(M4062T +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(A1768V +6 more)
Single nucleotide variant
(missense variant +1 more)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(T3045S +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
(R2252G +6 more)
Single nucleotide variant
(missense variant +1 more)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
Microsatellite
(inframe_insertion +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
(A1282V +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(V2588M +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
(L324P +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
(A2V)
Single nucleotide variant
(missense variant +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)
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
(intron 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
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
(K1035N +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
(E1345D +6 more)
Single nucleotide variant
(missense variant +1 more)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(G4017D +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
Single nucleotide variant
(synonymous 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
(L2684M +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(W356R +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(Q861* +6 more)
Single nucleotide variant
(nonsense)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GPathogenic
PLEC
Single nucleotide variant
(synonymous variant +1 more)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
(E966K +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(I3143M +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(E3888K +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
(G2342S +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
Microsatellite
(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
(T2993A +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
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(I1396S +6 more)
Single nucleotide variant
(missense variant +1 more)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
Duplication
(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
(R1907Q +6 more)
Single nucleotide variant
(missense variant +1 more)
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
(E4434G +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
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
(E1941D +6 more)
Single nucleotide variant
(missense variant +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
(intron variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
(R1060L +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
(R3144G +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(R4246G +7 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(E1303* +6 more)
Single nucleotide variant
(nonsense)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GPathogenic
PLEC
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
(G3385D +7 more)
Single nucleotide variant
(missense variant)
PLEC-related disorder
+5 more
GUncertain significance
PLEC
Single nucleotide variant
(synonymous variant +1 more)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
(G4260D +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
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GLikely benign
PLEC
Deletion
(inframe_deletion)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GUncertain significance
PLEC
(E1999G +6 more)
Single nucleotide variant
(missense variant +1 more)
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
(I2472N +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
(Y4067* +7 more)
Single nucleotide variant
(nonsense)
Epidermolysis bullosa simplex with nail dystrophy
+4 more
GPathogenic
PLEC
(E1958Q +6 more)
Single nucleotide variant
(missense variant +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
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