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Links from MedGen

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT17
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
KRT6B
(G111D)
Single nucleotide variant
(missense variant)
KRT6B-related disorder
+1 more
GBenign
KRT17
(S97del)
Microsatellite
(inframe_deletion)
Steatocystoma multiplex
+2 more
GPathogenic/Likely pathogenic
KRT17
(V102M)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 2
GPathogenic
KRT17
(L99P)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT17
(L95P)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT17
(L95Q)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 2
GPathogenic
KRT17
(R94P)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 2
GPathogenic
KRT17
Deletion
(inframe_deletion)
Pachyonychia congenita 2
GPathogenic
KRT17
(M88T)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 2
GPathogenic
KRT17
(R94C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KRT17
(R94H)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 2
+2 more
GPathogenic/Likely pathogenic
KRT17
(Y98D)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 2
GPathogenic
KRT17
(N92S)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 2
+3 more
GPathogenic
KRT17
(N92D)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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