U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT16
Deletion
(intron variant)
Pachyonychia congenita 1
+2 more
GUncertain significance
KRT16
Single nucleotide variant
(intron variant)
Pachyonychia congenita 1
+2 more
GBenign
KRT16
Single nucleotide variant
(synonymous variant)
Pachyonychia congenita 1
+2 more
GBenign
KRT16
(T215S)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 1
+2 more
GConflicting classifications of pathogenicity
KRT16
(G23S)
Single nucleotide variant
(missense variant)
Palmoplantar keratoderma, nonepidermolytic, focal 1
+2 more
GBenign/Likely benign
KRT16
(A180V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KRT16
(R127G)
Single nucleotide variant
(missense variant)
Palmoplantar keratoderma, nonepidermolytic, focal 1
+2 more
GPathogenic/Likely pathogenic
KRT16
(Q122R)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 1
GLikely pathogenic
KRT16
(N125G)
Indel
(missense variant)
Pachyonychia congenita 1
GPathogenic
KRT16
(N125D)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT16
(L124H)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 1
+2 more
GPathogenic/Likely pathogenic
KRT16
(L128Q)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 1
GPathogenic
KRT16
(M121T)
Single nucleotide variant
(missense variant)
Palmoplantar keratoderma, nonepidermolytic, focal 1
+2 more
GPathogenic/Likely pathogenic
KRT16
(K354N)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 1
+2 more
GConflicting classifications of pathogenicity
KRT16
(L124R)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 1
GPathogenic
KRT16
(Q122P)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 1
GPathogenic
KRT16
(R127P)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 1
GPathogenic
KRT16
(S130del)
Microsatellite
(inframe_deletion)
not provided
GPathogenic
KRT16
(N125S)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 1
+2 more
GPathogenic
KRT16
(R127C)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 1
+3 more
GPathogenic
KRT16
(L132P)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
Format
Items per page
Sort by
Choose Destination