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Links from MedGen

Items: 1 to 100 of 105

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLEC
(E3067fs +6 more)
Deletion
(frameshift variant)
Epidermolysis bullosa simplex
GPathogenic
PLEC
(K1856fs +6 more)
Deletion
(frameshift variant)
Epidermolysis bullosa simplex
GPathogenic
PLEC
(L1252F +6 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
+5 more
GConflicting classifications of pathogenicity
KRT14
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex
GPathogenic
KRT14
(L408Q)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GPathogenic
KRT14
(L402R)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GPathogenic
KRT14
(E382*)
Single nucleotide variant
(nonsense)
Epidermolysis bullosa simplex
GPathogenic
KRT5, LOC126861525
(T469S)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
+1 more
GConflicting classifications of pathogenicity
KRT5, LOC126861525
(E466Q)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GPathogenic
KRT5
(T321P)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GPathogenic
KRT5
Deletion
(splice acceptor variant)
Epidermolysis bullosa simplex
GPathogenic
KRT5, LOC126861526
(L196P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
LOC126861526, KRT5
(Q191E)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GPathogenic
KRT5, LOC126861526
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex
GPathogenic
KRT5
(F83L)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5, LOC126861525
(A415V)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5, LOC126861525
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5, LOC126861525
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5
(S499P)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GLikely benign
KRT5
(G122S)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5
(G541S)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5
(R559Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KRT5, LOC126861526
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5, LOC126861526
(R187Q)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GLikely benign
KRT5
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5
Single nucleotide variant
(5 prime UTR variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5
(M303L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely benign
KRT5
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex
+1 more
GBenign
KRT5
Deletion
(nonsense)
Epidermolysis bullosa simplex
GLikely pathogenic
KRT5
Single nucleotide variant
Epidermolysis bullosa simplex
GBenign
KRT5
Single nucleotide variant
Epidermolysis bullosa simplex
GUncertain significance
KRT5
Single nucleotide variant
(5 prime UTR variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5
Single nucleotide variant
(5 prime UTR variant)
Epidermolysis bullosa simplex
GBenign
KRT5
Single nucleotide variant
(5 prime UTR variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5
Single nucleotide variant
(synonymous variant)
KRT5-related condition
+2 more
GBenign/Likely benign
KRT5
(R37Q)
Single nucleotide variant
(missense variant)
not provided
+9 more
GBenign/Likely benign
KRT5
(G39R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
KRT5
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex
GLikely benign
KRT5
Single nucleotide variant
(synonymous variant)
KRT5-related condition
+2 more
GBenign
KRT5
(F87V)
Single nucleotide variant
(missense variant)
KRT5-related condition
+2 more
GBenign
KRT5
(G118S)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GLikely benign
KRT5
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex
GLikely benign
KRT5
(F127L)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
KRT5, LOC126861526
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5
(V293I)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5
Single nucleotide variant
(synonymous variant)
KRT5-related condition
+2 more
GBenign/Likely benign
KRT5, LOC126861525
(G373A)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5, LOC126861525
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
KRT5, LOC126861525
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
KRT5
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
KRT5
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
KRT5
(G519S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
KRT5
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5
(G569R)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
+1 more
GBenign
KRT5
(S579Y)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GLikely benign
KRT5
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex
GBenign
KRT5
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex
GBenign
KRT5
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex
GBenign
KRT5
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex
GUncertain significance
KRT5
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex
GBenign
KRT5, LOC126861526
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
KRT5
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
KRT5
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
KRT5
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
KRT5, LOC126861526
(V211M)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
+2 more
GBenign/Likely benign
KRT14
(K250fs)
Deletion
(frameshift variant)
Epidermolysis bullosa simplex
GPathogenic
KRT14
(V133L)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
+1 more
GPathogenic
KRT14
(Y129D)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GPathogenic
KRT14
(K116*)
Single nucleotide variant
(nonsense)
Epidermolysis bullosa simplex
GPathogenic
KRT14
(Y415C)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GPathogenic
KRT14
(E411del)
Deletion
(inframe_deletion)
Epidermolysis bullosa simplex
GPathogenic
KRT5
(D328V)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GPathogenic
KRT5, LOC126861526
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex
+2 more
GBenign
KRT5, LOC126861526
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
KRT5, LOC126861526
Single nucleotide variant
(synonymous variant)
Dowling-Degos disease 1
+10 more
GBenign
KRT5, LOC126861526
(D197E)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
+2 more
GBenign
KRT5, LOC126861526
(V186E)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GPathogenic
KRT5, LOC126861526
(V186M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
KRT5
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
KRT5
(R165S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
KRT5
(G138E)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
KRT5
(G543S)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
+2 more
GBenign
KRT5
(S528G)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
KRT5, LOC126861525
(R471C)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex, Koebner type
+4 more
GConflicting classifications of pathogenicity
KRT5, LOC126861525
(E466D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
KRT5, LOC126861525
(A428V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
KRT5, LOC126861525
(A428T)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex
GPathogenic
KRT5
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
KRT5, LOC126861525
(E477K)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex 1C, localized
+3 more
GPathogenic
KRT5
(E170K)
Single nucleotide variant
(missense variant)
KRT5-related condition
+2 more
GPathogenic
KRT5
(G550fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
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