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Links from MedGen

Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT6A
(K550N)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 3
+1 more
GUncertain significance
KRT6A
Single nucleotide variant
(splice acceptor variant)
Pachyonychia congenita 3
GUncertain significance
KRT6A
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
KRT6A
(G510V)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 3
GUncertain significance
KRT6A
(N21S)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 3
+1 more
GBenign
KRT6A
Single nucleotide variant
(synonymous variant)
Pachyonychia congenita 3
+2 more
GBenign
KRT6A
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
KRT6A
Single nucleotide variant
(synonymous variant)
KRT6A-related disorder
+2 more
GBenign
KRT6A
Single nucleotide variant
(intron variant)
Pachyonychia congenita 3
GUncertain significance
KRT6A
(E461*)
Single nucleotide variant
(nonsense)
Pachyonychia congenita 3
GLikely pathogenic
KRT6A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
KRT6A
Single nucleotide variant
(splice acceptor variant)
Pachyonychia congenita 3
GPathogenic
KRT6A
(F174S)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 3
GPathogenic
KRT6A
(N171K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
KRT6A
(N171S)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 3
+1 more
GPathogenic
KRT6A
(N171Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
KRT6A
(N171D)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT6A
(L469P)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 3
GPathogenic
KRT6A
(L469R)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 3
GPathogenic
KRT6A
(E472K)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 3
+1 more
GPathogenic/Likely pathogenic
KRT6A
(F174V)
Single nucleotide variant
(missense variant)
Pachyonychia congenita 3
GPathogenic
KRT6A
(N172del)
Microsatellite
(inframe_deletion)
Pachyonychia congenita 3
+1 more
GPathogenic
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