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Links from MedGen

Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP2A2, LOC126861637
(R541Q +2 more)
Single nucleotide variant
(missense variant)
Acrokeratosis verruciformis of Hopf
GBenign
ATP2A2, LOC126861637
(R677P)
Single nucleotide variant
(missense variant)
Acrokeratosis verruciformis of Hopf
+1 more
GUncertain significance
ATP2A2
Deletion
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATP2A2
(T230A)
Single nucleotide variant
(missense variant)
Acrokeratosis verruciformis of Hopf
GUncertain significance
ATP2A2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ATP2A2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
ATP2A2
Single nucleotide variant
(intron variant)
Acrokeratosis verruciformis of Hopf
+2 more
GBenign
ATP2A2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
ATP2A2
Single nucleotide variant
(intron variant)
Keratosis follicularis
+3 more
GBenign/Likely benign
ATP2A2
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
ATP2A2
Microsatellite
(intron variant)
not provided
+2 more
GBenign/Likely benign
ATP2A2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ATP2A2, LOC126861638
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
ATP2A2
Single nucleotide variant
(intron variant)
Keratosis follicularis
+2 more
GBenign
ATP2A2
Single nucleotide variant
(synonymous variant)
Acrokeratosis verruciformis of Hopf
+2 more
GBenign
ATP2A2, LOC126861637
Single nucleotide variant
(synonymous variant)
Acrokeratosis verruciformis of Hopf
+2 more
GBenign
ATP2A2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ATP2A2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
ATP2A2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
ATP2A2
Single nucleotide variant
(synonymous variant)
Acrokeratosis verruciformis of Hopf
+3 more
GBenign/Likely benign
ATP2A2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
ATP2A2
Single nucleotide variant
(5 prime UTR variant)
Acrokeratosis verruciformis of Hopf
+3 more
GBenign/Likely benign
ATP2A2, LOC126861637
(A698V)
Single nucleotide variant
(missense variant)
Acrokeratosis verruciformis of Hopf
GPathogenic
ATP2A2, LOC126861637
(P602L)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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