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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKCSH
Microsatellite
(intron variant)
not specified
+2 more
GBenign
PRKCSH
(R139H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRKCSH
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PRKCSH
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
PRKCSH
(A291T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
PRKCSH
(E325del)
Microsatellite
(inframe_deletion)
not specified
+2 more
GBenign/Likely benign
PRKCSH
Microsatellite
(inframe_deletion)
not specified
+1 more
GBenign
PRKCSH
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
PRKCSH
(K484fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
PRKCSH
(E505* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
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