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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAST
Single nucleotide variant
(non-coding transcript variant +1 more)
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
GUncertain significance
CAST
(S113I +10 more)
Single nucleotide variant
(missense variant +1 more)
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
GUncertain significance
CAST
(A326T +16 more)
Single nucleotide variant
(missense variant +1 more)
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
+1 more
GBenign
CAST
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CAST
(C336S +16 more)
Single nucleotide variant
(missense variant +1 more)
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
+1 more
GBenign
CAST
Single nucleotide variant
(synonymous variant +1 more)
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
+1 more
GBenign
CAST
(A266P +16 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
CAST, ERAP1
(V507fs +16 more)
Deletion
(3 prime UTR variant +2 more)
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
GPathogenic
CAST
(K142* +10 more)
Single nucleotide variant
(nonsense)
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
GPathogenic
CAST
(I203fs +11 more)
Duplication
(frameshift variant)
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
GPathogenic
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