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Links from MedGen

Items: 84

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT4
(P121T)
Single nucleotide variant
(missense variant)
White sponge nevus 1
+1 more
GConflicting classifications of pathogenicity
KRT4
(V402I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely benign
KRT4
(R420C)
Single nucleotide variant
(missense variant)
White sponge nevus 1
GBenign
KRT4
Single nucleotide variant
(intron variant)
White sponge nevus 1
GLikely benign
KRT4
Single nucleotide variant
(intron variant)
White sponge nevus 1
GUncertain significance
KRT4
Single nucleotide variant
(synonymous variant)
White sponge nevus 1
GLikely benign
KRT4
(S473C)
Single nucleotide variant
(missense variant)
White sponge nevus 1
GUncertain significance
KRT4
(G481R)
Single nucleotide variant
(missense variant)
White sponge nevus 1
GUncertain significance
KRT4
(G11R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
KRT4
(V65M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
KRT4
Single nucleotide variant
(synonymous variant)
White sponge nevus 1
GLikely benign
KRT4
Single nucleotide variant
(synonymous variant)
White sponge nevus 1
GUncertain significance
KRT4
(A106G)
Single nucleotide variant
(missense variant)
White sponge nevus 1
+1 more
GUncertain significance
KRT4
(T120N)
Single nucleotide variant
(missense variant)
White sponge nevus 1
+1 more
GConflicting classifications of pathogenicity
KRT4
Single nucleotide variant
(synonymous variant)
White sponge nevus 1
GLikely benign
KRT4
(A328V)
Single nucleotide variant
(missense variant)
White sponge nevus 1
GBenign
KRT4
(L358V)
Single nucleotide variant
(missense variant)
White sponge nevus 1
GUncertain significance
KRT4
Single nucleotide variant
(3 prime UTR variant)
White sponge nevus 1
GUncertain significance
KRT4
(R440C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
KRT4
Single nucleotide variant
(splice donor variant)
White sponge nevus 1
GUncertain significance
KRT13
Single nucleotide variant
(synonymous variant)
White sponge nevus 1
GUncertain significance
KRT4
Single nucleotide variant
(5 prime UTR variant)
White sponge nevus 1
GLikely benign
KRT4
Single nucleotide variant
(5 prime UTR variant)
White sponge nevus 1
GBenign
KRT4
(R9G)
Single nucleotide variant
(missense variant)
White sponge nevus 1
GUncertain significance
KRT4
Single nucleotide variant
(synonymous variant)
White sponge nevus 1
GUncertain significance
KRT4
(R41Q)
Single nucleotide variant
(missense variant)
White sponge nevus 1
+1 more
GBenign
KRT4
Single nucleotide variant
(synonymous variant)
White sponge nevus 1
GUncertain significance
KRT4
(R69*)
Single nucleotide variant
(nonsense)
White sponge nevus 1
GLikely benign
KRT4
(A72V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
KRT4
(G75E)
Single nucleotide variant
(missense variant)
White sponge nevus 1
GBenign
KRT4
Single nucleotide variant
(synonymous variant)
White sponge nevus 1
GBenign
KRT4
Single nucleotide variant
(synonymous variant)
White sponge nevus 1
GBenign
KRT4
Single nucleotide variant
(synonymous variant)
White sponge nevus 1
GBenign
KRT4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
KRT4
(L118W)
Single nucleotide variant
(missense variant)
White sponge nevus 1
GUncertain significance
KRT4
(L122V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KRT4
(T135M)
Single nucleotide variant
(missense variant)
White sponge nevus 1
+1 more
GBenign
KRT4
Single nucleotide variant
(synonymous variant)
White sponge nevus 1
GUncertain significance
KRT4
Single nucleotide variant
(synonymous variant)
White sponge nevus 1
+1 more
GBenign/Likely benign
KRT4
(D153N)
Single nucleotide variant
(missense variant)
White sponge nevus 1
GUncertain significance
KRT4
Single nucleotide variant
(intron variant)
White sponge nevus 1
GUncertain significance
KRT4
(Q156*)
Single nucleotide variant
(nonsense)
White sponge nevus 1
GLikely benign
KRT4
(Q156R)
Single nucleotide variant
(missense variant)
KRT4-related disorder
+2 more
GBenign
KRT4
(E159K)
Single nucleotide variant
(missense variant)
White sponge nevus 1
GBenign
KRT4
Single nucleotide variant
(synonymous variant)
White sponge nevus 1
GLikely benign
KRT4
(T176M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
KRT4
(N183S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
KRT4
Single nucleotide variant
(synonymous variant)
White sponge nevus 1
GBenign
KRT4
(R208H)
Single nucleotide variant
(missense variant)
White sponge nevus 1
+1 more
GBenign
KRT4
Single nucleotide variant
(intron variant)
White sponge nevus 1
GUncertain significance
KRT4
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
KRT4
Single nucleotide variant
(intron variant)
White sponge nevus 1
GUncertain significance
KRT4
Single nucleotide variant
(intron variant)
White sponge nevus 1
+1 more
GBenign
KRT4
Single nucleotide variant
(synonymous variant)
White sponge nevus 1
GUncertain significance
KRT4
(D247E)
Single nucleotide variant
(missense variant)
White sponge nevus 1
+1 more
GUncertain significance
KRT4
(V256M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
KRT4
Single nucleotide variant
(intron variant)
White sponge nevus 1
GBenign
KRT4
Single nucleotide variant
(synonymous variant)
White sponge nevus 1
GBenign
KRT4
Single nucleotide variant
(synonymous variant)
White sponge nevus 1
+1 more
GBenign/Likely benign
KRT4
Single nucleotide variant
(synonymous variant)
White sponge nevus 1
GLikely benign
KRT4
Single nucleotide variant
(synonymous variant)
White sponge nevus 1
+2 more
GBenign
KRT4
Single nucleotide variant
(synonymous variant)
KRT4-related disorder
+1 more
GBenign
KRT4
(V383M)
Single nucleotide variant
(missense variant)
White sponge nevus 1
GLikely benign
KRT4
(H398Y)
Single nucleotide variant
(missense variant)
White sponge nevus 1
GLikely benign
KRT4
Single nucleotide variant
(synonymous variant)
White sponge nevus 1
GBenign
KRT4
(R420H)
Single nucleotide variant
(missense variant)
White sponge nevus 1
GBenign
KRT4
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
KRT4
Single nucleotide variant
(intron variant)
White sponge nevus 1
+1 more
GBenign
KRT4
Single nucleotide variant
(synonymous variant)
White sponge nevus 1
GBenign
KRT4
(F498S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
KRT4
(G499R)
Single nucleotide variant
(missense variant)
White sponge nevus 1
+1 more
GConflicting classifications of pathogenicity
KRT4
Single nucleotide variant
(synonymous variant)
White sponge nevus 1
GBenign
KRT4
Single nucleotide variant
(3 prime UTR variant)
White sponge nevus 1
GBenign
KRT4
Single nucleotide variant
(3 prime UTR variant)
White sponge nevus 1
GBenign
KRT4
Single nucleotide variant
(3 prime UTR variant)
White sponge nevus 1
GBenign
KRT4
Single nucleotide variant
(3 prime UTR variant)
White sponge nevus 1
GUncertain significance
KRT4
Single nucleotide variant
(3 prime UTR variant)
White sponge nevus 1
GBenign
KRT4
Single nucleotide variant
(3 prime UTR variant)
White sponge nevus 1
GBenign
KRT4
Single nucleotide variant
(3 prime UTR variant)
White sponge nevus 1
GUncertain significance
KRT4
Single nucleotide variant
(3 prime UTR variant)
White sponge nevus 1
GUncertain significance
KRT4
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
KRT4
(E435K)
Single nucleotide variant
(missense variant)
White sponge nevus 1
GPathogenic
KRT4
Insertion
(inframe_indel)
White sponge nevus 1
GPathogenic
KRT4
(N146del)
Microsatellite
(inframe_deletion)
White sponge nevus 1
GPathogenic
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