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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AKIRIN2, ANKRD6
+220 more
Copy number loss
See cases
GPathogenic
SYNCRIP
(S503C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SYNCRIP
(N486K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SYNCRIP
(G370fs +3 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
SYNCRIP
(R296C +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SYNCRIP
(P288L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SYNCRIP
(N273K +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SYNCRIP
(F253fs +3 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
SYNCRIP
(M236V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SYNCRIP
(T111A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SYNCRIP
(P187L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SYNCRIP
(E163D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SYNCRIP
(T162N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SYNCRIP
(S116G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SYNCRIP
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
SYNCRIP
(R358K +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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