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Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT10
Single nucleotide variant
(intron variant)
Porcupine man
+3 more
GLikely benign
KRT10, KRT10-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital reticular ichthyosiform erythroderma
+1 more
GLikely pathogenic
KRT10
(H487Y)
Single nucleotide variant
(missense variant)
Bullous ichthyosiform erythroderma
+3 more
GBenign
KRT10, KRT10-AS1
(L157P)
Single nucleotide variant
(missense variant)
Congenital reticular ichthyosiform erythroderma
GPathogenic
KRT10
(S468fs)
Indel
(frameshift variant)
Congenital reticular ichthyosiform erythroderma
GPathogenic
KRT10, KRT10-AS1
Deletion
(splice donor variant)
Congenital reticular ichthyosiform erythroderma
GPathogenic
KRT10, KRT10-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital reticular ichthyosiform erythroderma
GPathogenic
KRT10, KRT10-AS1
Microsatellite
(inframe_insertion)
Bullous ichthyosiform erythroderma
+4 more
GLikely benign
KRT10
Microsatellite
(inframe_insertion)
Congenital reticular ichthyosiform erythroderma
+3 more
GUncertain significance
KRT1
(V623fs)
Duplication
(frameshift variant)
Congenital reticular ichthyosiform erythroderma
GPathogenic
KRT10
Duplication
(inframe_insertion)
KRT10-related condition
+5 more
GBenign/Likely benign
KRT10, KRT10-AS1
(G126S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
KRT10
(G521fs)
Deletion
(frameshift variant)
Congenital reticular ichthyosiform erythroderma
GPathogenic
KRT10
(G484fs)
Duplication
(frameshift variant)
Congenital reticular ichthyosiform erythroderma
GPathogenic
KRT10, KRT10-AS1
Single nucleotide variant
(splice donor variant)
Congenital reticular ichthyosiform erythroderma
GPathogenic
KRT10, KRT10-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital reticular ichthyosiform erythroderma
GPathogenic
KRT10, KRT10-AS1
(R156C)
Single nucleotide variant
(missense variant)
Epidermolytic nevus
+5 more
GPathogenic
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