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Links from MedGen

Items: 1 to 100 of 106

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC25A38
(R187*)
Single nucleotide variant
(nonsense)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(Y195C)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GUncertain significance
SLC25A38
(P92R)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GLikely pathogenic
SLC25A38
Single nucleotide variant
(splice acceptor variant)
Sideroblastic anemia 2
GLikely pathogenic
SLC25A38
(K29E)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GUncertain significance
SLC25A38
Single nucleotide variant
(intron variant)
Sideroblastic anemia 2
+1 more
GBenign
SLC25A38
Single nucleotide variant
(intron variant)
Sideroblastic anemia 2
+1 more
GBenign
SLC25A38
Single nucleotide variant
(splice acceptor variant +1 more)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(D188H)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(A137fs)
Duplication
(frameshift variant)
Sideroblastic anemia 2
+1 more
GPathogenic
SLC25A38
(L196P)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(I147N)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(Q56K)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(Y293*)
Single nucleotide variant
(stop lost +1 more)
Sideroblastic anemia 2
GPathogenic
SLC25A38
Single nucleotide variant
(splice donor variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(K76fs)
Deletion
(frameshift variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(A287fs +1 more)
Deletion
(frameshift variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
Deletion
(frameshift variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(I144fs)
Indel
(frameshift variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(W87*)
Single nucleotide variant
(nonsense)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(L230P)
Single nucleotide variant
(missense variant +1 more)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(G157R)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(I94N)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(G228V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC25A38
(P222R +1 more)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(P190R)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(G130E)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(K112fs)
Deletion
(frameshift variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(P222L +1 more)
Single nucleotide variant
(missense variant +1 more)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(Q59*)
Single nucleotide variant
(nonsense)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(R134H)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(I225fs)
Indel
(frameshift variant +1 more)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(R187Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC25A38
(I161fs)
Duplication
(frameshift variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
Single nucleotide variant
(3 prime UTR variant +1 more)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(G102E)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(F271fs +1 more)
Duplication
(frameshift variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
Single nucleotide variant
(intron variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(C223fs)
Deletion
(frameshift variant +1 more)
Sideroblastic anemia 2
+1 more
GConflicting classifications of pathogenicity
SLC25A38
(E159fs)
Deletion
(frameshift variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
Single nucleotide variant
(splice acceptor variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(G130R)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(P121fs)
Deletion
(frameshift variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
Single nucleotide variant
(splice acceptor variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
Single nucleotide variant
(splice donor variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
(M70fs)
Deletion
(frameshift variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
Single nucleotide variant
(3 prime UTR variant)
Sideroblastic anemia 2
GUncertain significance
SLC25A38
Single nucleotide variant
(3 prime UTR variant)
Sideroblastic anemia 2
GLikely benign
SLC25A38
Single nucleotide variant
(3 prime UTR variant)
Sideroblastic anemia 2
GUncertain significance
SLC25A38
Single nucleotide variant
(3 prime UTR variant)
Sideroblastic anemia 2
GUncertain significance
SLC25A38
(R67C)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
+2 more
GUncertain significance
LOC129936510, SLC25A38
Single nucleotide variant
(5 prime UTR variant)
Sideroblastic anemia 2
GUncertain significance
SLC25A38
Single nucleotide variant
(3 prime UTR variant)
Sideroblastic anemia 2
GUncertain significance
SLC25A38
Single nucleotide variant
(3 prime UTR variant)
Sideroblastic anemia 2
GUncertain significance
SLC25A38
Single nucleotide variant
(3 prime UTR variant)
Sideroblastic anemia 2
GUncertain significance
SLC25A38, LOC129936510
Single nucleotide variant
(5 prime UTR variant)
Sideroblastic anemia 2
GUncertain significance
SLC25A38
Single nucleotide variant
(3 prime UTR variant)
Sideroblastic anemia 2
+1 more
GBenign
SLC25A38
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC25A38
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC25A38
(D209N +1 more)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GUncertain significance
SLC25A38
Single nucleotide variant
(synonymous variant)
Sideroblastic anemia 2
GUncertain significance
SLC25A38
Single nucleotide variant
(5 prime UTR variant)
Sideroblastic anemia 2
+1 more
GLikely benign
SLC25A38
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC25A38
(V101A)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
+1 more
GUncertain significance
SLC25A38
(I94V)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GUncertain significance
SLC25A38
(I225fs)
Insertion
(frameshift variant +1 more)
Sideroblastic anemia 2
GLikely pathogenic
LOC129936510, SLC25A38
(N4S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC25A38
(D209H +1 more)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GPathogenic/Likely pathogenic
SLC25A38
(R134C)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
GConflicting classifications of pathogenicity
SLC25A38
Single nucleotide variant
(splice acceptor variant)
Sideroblastic anemia 2
GPathogenic
SLC25A38
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SLC25A38
(R66G)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
+2 more
GBenign/Likely benign
SLC25A38
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC25A38
Single nucleotide variant
(3 prime UTR variant)
Refractory anemia with ringed sideroblasts (clinical)
+2 more
GBenign/Likely benign
SLC25A38
Single nucleotide variant
(3 prime UTR variant)
X-linked sideroblastic anemia 1
+1 more
GConflicting classifications of pathogenicity
SLC25A38
Single nucleotide variant
(3 prime UTR variant)
X-linked sideroblastic anemia 1
+2 more
GBenign/Likely benign
SLC25A38
Single nucleotide variant
(3 prime UTR variant)
Refractory anemia with ringed sideroblasts (clinical)
+2 more
GConflicting classifications of pathogenicity
SLC25A38
Single nucleotide variant
(3 prime UTR variant)
Sideroblastic anemia 2
+1 more
GUncertain significance
SLC25A38
Single nucleotide variant
(3 prime UTR variant)
Sideroblastic anemia 2
+1 more
GUncertain significance
SLC25A38
Single nucleotide variant
(3 prime UTR variant)
Refractory anemia with ringed sideroblasts (clinical)
+2 more
GBenign
SLC25A38
Single nucleotide variant
(3 prime UTR variant)
X-linked sideroblastic anemia 1
+1 more
GConflicting classifications of pathogenicity
SLC25A38
(I218F)
Single nucleotide variant
(missense variant +1 more)
Refractory anemia with ringed sideroblasts (clinical)
+3 more
GUncertain significance
SLC25A38
Single nucleotide variant
(synonymous variant)
Sideroblastic anemia 2
+1 more
GUncertain significance
SLC25A38
Single nucleotide variant
(synonymous variant)
Sideroblastic anemia 2
+2 more
GConflicting classifications of pathogenicity
SLC25A38
(T149M)
Single nucleotide variant
(missense variant)
X-linked sideroblastic anemia 1
+1 more
GUncertain significance
SLC25A38
(M128V)
Single nucleotide variant
(missense variant)
X-linked sideroblastic anemia 1
+4 more
GBenign/Likely benign
SLC25A38
Single nucleotide variant
(synonymous variant)
Refractory anemia with ringed sideroblasts (clinical)
+2 more
GConflicting classifications of pathogenicity
SLC25A38
(T80R)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 2
+4 more
GConflicting classifications of pathogenicity
SLC25A38
(R54H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
LOC129936510, SLC25A38
Single nucleotide variant
(synonymous variant)
Sideroblastic anemia 2
+2 more
GConflicting classifications of pathogenicity
SLC25A38
Single nucleotide variant
(5 prime UTR variant)
Sideroblastic anemia 2
+1 more
GUncertain significance
SLC25A38
Single nucleotide variant
(5 prime UTR variant)
Refractory anemia with ringed sideroblasts (clinical)
+1 more
GUncertain significance
SLC25A38
Single nucleotide variant
(5 prime UTR variant)
Refractory anemia with ringed sideroblasts (clinical)
+2 more
GBenign/Likely benign
SLC25A38
Single nucleotide variant
(5 prime UTR variant)
X-linked sideroblastic anemia 1
+1 more
GUncertain significance
SLC25A38
Single nucleotide variant
(5 prime UTR variant)
X-linked sideroblastic anemia 1
+1 more
GUncertain significance
SLC25A38
Single nucleotide variant
(5 prime UTR variant)
X-linked sideroblastic anemia 1
+1 more
GUncertain significance
SLC25A38
Single nucleotide variant
(5 prime UTR variant)
Sideroblastic anemia 2
+1 more
GUncertain significance
SLC25A38
Single nucleotide variant
(5 prime UTR variant)
X-linked sideroblastic anemia 1
+2 more
GConflicting classifications of pathogenicity
SLC25A38
Single nucleotide variant
(5 prime UTR variant)
X-linked sideroblastic anemia 1
+2 more
GBenign/Likely benign
SLC25A38
Single nucleotide variant
(5 prime UTR variant)
Sideroblastic anemia 2
+1 more
GUncertain significance
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