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Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC25A38
Single nucleotide variant
(splice acceptor variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(Q56K)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(Q59*)
Single nucleotide variant
(nonsense)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(M70fs)
Deletion
(frameshift variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(K76fs)
Deletion
(frameshift variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(W87*)
Single nucleotide variant
(nonsense)
Sideroblastic anemia 2
GPathogenic
SLC25A38
Single nucleotide variant
(splice donor variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
Single nucleotide variant
(splice donor variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
Single nucleotide variant
(splice acceptor variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
Single nucleotide variant
(splice acceptor variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(I94N)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(G102E)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
Deletion
(frameshift variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(Y109fs)
Microsatellite
(frameshift variant)
Sideroblastic anemia 2
+2 more
GPathogenic/Likely pathogenic
SLC25A38
(K112fs)
Deletion
(frameshift variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(R117*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
SLC25A38
(P121fs)
Deletion
(frameshift variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(G130R)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(G130E)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(R134C)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GConflicting classifications of pathogenicity
SLC25A38
(R134H)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(A137fs)
Duplication
(frameshift variant)
Sideroblastic anemia 2
+1 more
GPathogenic
SLC25A38
(I144fs)
Indel
(frameshift variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(I147N)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
Single nucleotide variant
(splice acceptor variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(G157R)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(E159fs)
Deletion
(frameshift variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(I161fs)
Duplication
(frameshift variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(R187Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC25A38
(R187P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC25A38
(D188H)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(P190R)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(L196P)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(D209H +1 more)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic/Likely pathogenic
SLC25A38
Single nucleotide variant
(splice acceptor variant +1 more)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(C223fs)
Deletion
(frameshift variant +1 more)
Sideroblastic anemia 2
+1 more
GConflicting classifications of pathogenicity
SLC25A38
(I225fs)
Indel
(frameshift variant +1 more)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(G228V)
Single nucleotide variant
(missense variant +1 more)
Sideroblastic anemia 2
+1 more
GConflicting classifications of pathogenicity
SLC25A38
(L230P)
Single nucleotide variant
(missense variant +1 more)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(K264*)
Single nucleotide variant
(intron variant +1 more)
Sideroblastic anemia 2
GPathogenic
SLC25A38
Single nucleotide variant
(intron variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(F271fs +1 more)
Duplication
(frameshift variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(P222R +1 more)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(P222L +1 more)
Single nucleotide variant
(missense variant +1 more)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(A287fs +1 more)
Deletion
(frameshift variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(Y293*)
Single nucleotide variant
(stop lost +1 more)
Sideroblastic anemia 2
GPathogenic
SLC25A38
Single nucleotide variant
(3 prime UTR variant +1 more)
Sideroblastic anemia 2
GPathogenic
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