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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT5, LOC126861526
(K199N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
KRT5
(S75Y)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 1
+1 more
GUncertain significance
KRT5
(R37Q)
Single nucleotide variant
(missense variant)
not provided
+9 more
GBenign/Likely benign
KRT5
(R331C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
KRT5, LOC126861526
Single nucleotide variant
(synonymous variant)
not provided
+10 more
GBenign
KRT5
(I140fs)
Duplication
(frameshift variant)
not provided
GPathogenic
KRT5
(S5*)
Single nucleotide variant
(nonsense)
Dowling-Degos disease 1
GPathogenic
KRT5
(M327T)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 1
+7 more
GPathogenic
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