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Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SIAE
(P515L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SIAE
(I510V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SIAE
(T423I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SIAE
(W416R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SIAE
(C414S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SIAE
(E364K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SIAE
(V327I +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SIAE
(M325K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SIAE
(Q303H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SIAE
(F283V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SIAE
(Q274R +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SIAE
(R271H +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
SIAE
(R266H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SIAE
(C291Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SIAE
(N290Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SIAE
(Y289F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SIAE
(G185R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SIAE
(S181F +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SIAE
(V170A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SIAE
(L103S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SIAE
(M34V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SIAE
(R27C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SIAE
(G19E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SIAE
(R27C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SIAE
(I24F)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GUncertain significance
SIAE
(G9R)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
SIAE
(G5A)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
SIAE, SPA17
(I3V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SIAE, SPA17
(Q14L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SIAE, SPA17
(L20F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SIAE, SPA17
(L20P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SIAE, SPA17
(E26K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SIAE, SPA17
(R50T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SIAE, SPA17
(E51Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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