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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT8
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
Gnot provided
KRT8
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
Gnot provided
KRT8
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
Gnot provided
KRT8
(K464N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
KRT8
(R454C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
Gnot provided
KRT8
(G434S +1 more)
Single nucleotide variant
(missense variant +1 more)
KRT8-related disorder
+1 more
GBenign
KRT8
Single nucleotide variant
(intron variant)
not provided
Gnot provided
KRT8
Deletion
(intron variant)
not provided
Gnot provided
KRT8
Single nucleotide variant
(intron variant)
not provided
Gnot provided
KRT8
(V380I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
KRT8
Single nucleotide variant
(synonymous variant +1 more)
not provided
Gnot provided
KRT8
(R341H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
KRT8
(R341C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
Gnot provided
KRT8
(A319S +1 more)
Single nucleotide variant
(missense variant +1 more)
KRT8-related disorder
GLikely benign
KRT8
Single nucleotide variant
(synonymous variant +1 more)
not provided
Gnot provided
KRT8
Single nucleotide variant
(synonymous variant +1 more)
not provided
Gnot provided
KRT8
(I63V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inflammatory bowel disease
+2 more
GBenign/Likely benign
KRT8
(G62C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign/Likely benign
KRT8
(G55A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
Gnot provided
KRT8
(Y54H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign
KRT8
(G53V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
Gnot provided
KRT8
(T26R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
Gnot provided
KRT18, KRT8
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
Gnot provided
KRT18, KRT8
+1 more
Deletion
(inframe_deletion +1 more)
not provided
Gnot provided
KRT18, KRT8
+1 more
(T103A)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
Gnot provided
KRT18, KRT8
+1 more
(H128L)
Single nucleotide variant
(non-coding transcript variant +2 more)
Cirrhosis, cryptogenic
+1 more
GPathogenic; risk factor
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