U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 80

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT2
Single nucleotide variant
(synonymous variant)
Ichthyosis bullosa of Siemens
GLikely benign
KRT2
Single nucleotide variant
(synonymous variant)
Ichthyosis bullosa of Siemens
GBenign
KRT2
Single nucleotide variant
(intron variant)
Ichthyosis bullosa of Siemens
GUncertain significance
KRT2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis bullosa of Siemens
GUncertain significance
KRT2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis bullosa of Siemens
GUncertain significance
KRT2
(R275G)
Single nucleotide variant
(missense variant)
Ichthyosis bullosa of Siemens
GBenign
KRT2
(G383R)
Single nucleotide variant
(missense variant)
Ichthyosis bullosa of Siemens
GBenign
KRT2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis bullosa of Siemens
GUncertain significance
KRT2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis bullosa of Siemens
GUncertain significance
KRT2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis bullosa of Siemens
GUncertain significance
KRT2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis bullosa of Siemens
GUncertain significance
KRT2
(G97E)
Single nucleotide variant
(missense variant)
Ichthyosis bullosa of Siemens
GUncertain significance
KRT2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
KRT2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis bullosa of Siemens
GUncertain significance
KRT2
(G116R)
Single nucleotide variant
(missense variant)
Ichthyosis bullosa of Siemens
GUncertain significance
KRT2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
KRT2
Single nucleotide variant
(synonymous variant)
Ichthyosis bullosa of Siemens
+1 more
GBenign/Likely benign
KRT2
Single nucleotide variant
(synonymous variant)
Ichthyosis bullosa of Siemens
GBenign
KRT2
(G567S)
Single nucleotide variant
(missense variant)
Ichthyosis bullosa of Siemens
GBenign
KRT2
(R34W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
KRT2
Insertion
(inframe_insertion)
not provided
+1 more
GBenign
KRT2
(S106N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
KRT2
Single nucleotide variant
Ichthyosis bullosa of Siemens
GLikely benign
KRT2
(G18R)
Single nucleotide variant
(missense variant)
Ichthyosis bullosa of Siemens
GUncertain significance
KRT2
(R20W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
KRT2
(R45C)
Single nucleotide variant
(missense variant)
Ichthyosis bullosa of Siemens
GBenign
KRT2
(R45H)
Single nucleotide variant
(missense variant)
Ichthyosis bullosa of Siemens
+1 more
GLikely benign
KRT2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
KRT2
Single nucleotide variant
(synonymous variant)
KRT2-related disorder
+2 more
GBenign
KRT2
Single nucleotide variant
(synonymous variant)
Ichthyosis bullosa of Siemens
GLikely benign
KRT2
(S101G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
KRT2
Indel
(inframe_indel)
Ichthyosis bullosa of Siemens
GUncertain significance
KRT2
Single nucleotide variant
(synonymous variant)
Ichthyosis bullosa of Siemens
GBenign
KRT2
Single nucleotide variant
(synonymous variant)
Ichthyosis bullosa of Siemens
+1 more
GBenign
KRT2
(G136E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
KRT2
(R179H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KRT2
Single nucleotide variant
(synonymous variant)
Ichthyosis bullosa of Siemens
GUncertain significance
KRT2
(G219D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
KRT2
(N256S)
Single nucleotide variant
(missense variant)
Ichthyosis bullosa of Siemens
+1 more
GBenign/Likely benign
KRT2
Single nucleotide variant
(synonymous variant)
Ichthyosis bullosa of Siemens
GUncertain significance
KRT2
Single nucleotide variant
(intron variant)
Ichthyosis bullosa of Siemens
GBenign
KRT2
Single nucleotide variant
(synonymous variant)
KRT2-related disorder
+1 more
GConflicting classifications of pathogenicity
KRT2
(K314E)
Single nucleotide variant
(missense variant)
Ichthyosis bullosa of Siemens
GBenign
KRT2
(E351K)
Single nucleotide variant
(missense variant)
Ichthyosis bullosa of Siemens
GUncertain significance
KRT2
Single nucleotide variant
(synonymous variant)
KRT2-related disorder
+1 more
GBenign/Likely benign
KRT2
(V402M)
Single nucleotide variant
(missense variant)
Ichthyosis bullosa of Siemens
GLikely benign
KRT2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
KRT2
Single nucleotide variant
(synonymous variant)
KRT2-related disorder
+1 more
GBenign/Likely benign
KRT2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
KRT2
(R430H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
KRT2
(A452G)
Single nucleotide variant
(missense variant)
Ichthyosis bullosa of Siemens
GUncertain significance
KRT2
(R458Q)
Single nucleotide variant
(missense variant)
Ichthyosis bullosa of Siemens
GLikely benign
KRT2
(G493V)
Single nucleotide variant
(missense variant)
Ichthyosis bullosa of Siemens
+1 more
GConflicting classifications of pathogenicity
KRT2
Single nucleotide variant
(synonymous variant)
Ichthyosis bullosa of Siemens
+1 more
GBenign
KRT2
(A517G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
KRT2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
KRT2
Single nucleotide variant
(synonymous variant)
Ichthyosis bullosa of Siemens
GLikely benign
KRT2
(G574R)
Single nucleotide variant
(missense variant)
Ichthyosis bullosa of Siemens
GLikely benign
KRT2
(G610V)
Single nucleotide variant
(missense variant)
Ichthyosis bullosa of Siemens
GUncertain significance
KRT2
(K623N)
Single nucleotide variant
(missense variant)
Ichthyosis bullosa of Siemens
GUncertain significance
KRT2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis bullosa of Siemens
GBenign
KRT2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis bullosa of Siemens
GBenign
KRT2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis bullosa of Siemens
GLikely benign
KRT2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis bullosa of Siemens
GUncertain significance
KRT2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis bullosa of Siemens
GBenign
KRT2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis bullosa of Siemens
GUncertain significance
KRT2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis bullosa of Siemens
GBenign
KRT2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis bullosa of Siemens
GUncertain significance
KRT2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis bullosa of Siemens
GBenign
KRT2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis bullosa of Siemens
GBenign
KRT2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis bullosa of Siemens
GBenign
KRT2
Single nucleotide variant
(3 prime UTR variant)
Ichthyosis bullosa of Siemens
GBenign
KRT2
(N186K)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT2
(N186D)
Single nucleotide variant
(missense variant)
Ichthyosis bullosa of Siemens
GPathogenic
KRT2
(E476K)
Single nucleotide variant
(missense variant)
Ichthyosis bullosa of Siemens
GPathogenic
KRT2
(N186Y)
Single nucleotide variant
(missense variant)
Ichthyosis bullosa of Siemens
GPathogenic
KRT2
(T479P)
Single nucleotide variant
(missense variant)
Ichthyosis bullosa of Siemens
GPathogenic
KRT2
(Q181P)
Single nucleotide variant
(missense variant)
Ichthyosis bullosa of Siemens
GPathogenic
KRT2
(E487K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
KRT2
(E487D)
Single nucleotide variant
(missense variant)
Ichthyosis bullosa of Siemens
GPathogenic
Format
Items per page
Sort by
Choose Destination