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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CENPJ, RNF17
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
CENPJ
(Q1027H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CENPJ
(D743G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CENPJ
(P617S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CENPJ
(D487E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CENPJ
(Q311fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
CENPJ
(H249D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CENPJ, LOC126861710
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
CENPJ
(S7fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
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