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Links from MedGen

Items: 1 to 100 of 281

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTA1
(Q474H)
Single nucleotide variant
(missense variant)
Pyropoikilocytosis, hereditary
+2 more
GUncertain significance
SPTA1
(H1861fs)
Deletion
(frameshift variant)
Pyropoikilocytosis, hereditary
+1 more
GLikely pathogenic
SPTA1
(A2111fs)
Deletion
(frameshift variant)
Pyropoikilocytosis, hereditary
+1 more
GLikely pathogenic
SPTA1
(S2074F)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
GUncertain significance
SPTA1
(K779fs)
Indel
(frameshift variant)
Hereditary spherocytosis type 3
GLikely pathogenic
SPTA1
(S336L)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
GUncertain significance
SPTA1
Single nucleotide variant
(splice acceptor variant)
Hereditary spherocytosis type 3
GPathogenic
SPTA1
(V10fs)
Deletion
(frameshift variant)
Hereditary spherocytosis type 3
GPathogenic
SPTA1
(R1757C)
Single nucleotide variant
(missense variant)
SPTA1-related disorder
+1 more
GConflicting classifications of pathogenicity
SPTA1
(R1608H)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
GLikely pathogenic
SPTA1
(L567P)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
GLikely pathogenic
SPTA1
(D923G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SPTA1
(R1281C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SPTA1
Single nucleotide variant
(intron variant)
Elliptocytosis 2
+3 more
GBenign
SPTA1
Single nucleotide variant
(intron variant)
Hereditary spherocytosis type 3
+3 more
GBenign
SPTA1
Single nucleotide variant
(intron variant)
Pyropoikilocytosis, hereditary
+3 more
GBenign
SPTA1
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
SPTA1
Single nucleotide variant
(intron variant)
Hereditary spherocytosis type 3
+3 more
GBenign
SPTA1
Single nucleotide variant
(intron variant)
Hereditary spherocytosis type 3
+3 more
GBenign
SPTA1
(Y220*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
SPTA1
(R1047*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
SPTA1
(C1394fs)
Deletion
(frameshift variant)
Hereditary spherocytosis type 3
+1 more
GPathogenic
SPTA1
(Y2233H)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
GUncertain significance
SPTA1
Single nucleotide variant
(intron variant)
Elliptocytosis 2
+5 more
GPathogenic
SPTA1
Single nucleotide variant
(intron variant)
Hereditary spherocytosis
+1 more
GPathogenic
SPTA1
Single nucleotide variant
(splice donor variant)
Hereditary spherocytosis type 3
GPathogenic
SPTA1
Single nucleotide variant
(intron variant)
Hereditary spherocytosis type 3
GUncertain significance
SPTA1
(R774*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
SPTA1
Single nucleotide variant
(intron variant)
Hereditary spherocytosis type 3
GUncertain significance
SPTA1
Copy number loss
Hereditary spherocytosis type 3
GPathogenic
SPTA1
Single nucleotide variant
(intron variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
Single nucleotide variant
(intron variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1, OR10Z1
(G2400C)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
(E530K)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
(R661C)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
(A827P)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
Single nucleotide variant
(intron variant)
Pyropoikilocytosis, hereditary
+2 more
GConflicting classifications of pathogenicity
SPTA1
(A1570T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SPTA1
(Q1683H)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
SPTA1
Single nucleotide variant
(synonymous variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
(R1617Q)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
SPTA1
Single nucleotide variant
(synonymous variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
(W68C)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
Single nucleotide variant
(synonymous variant)
Hereditary spherocytosis type 3
+3 more
GConflicting classifications of pathogenicity
SPTA1
(I174T)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
(V184G)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+4 more
GConflicting classifications of pathogenicity
SPTA1
(R2079W)
Single nucleotide variant
(missense variant)
Elliptocytosis 2
+3 more
GConflicting classifications of pathogenicity
SPTA1
(R2079L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SPTA1
Single nucleotide variant
(synonymous variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
OR10Z1, SPTA1
(V2410I)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+3 more
GUncertain significance
SPTA1, OR10Z1
(T2413S)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
OR10Z1, SPTA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
(L789V)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
(N949S)
Single nucleotide variant
(missense variant)
Elliptocytosis 2
+2 more
GUncertain significance
SPTA1
(D1037N)
Single nucleotide variant
(missense variant)
Elliptocytosis 2
+2 more
GUncertain significance
SPTA1
(F1621Y)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+3 more
GConflicting classifications of pathogenicity
SPTA1
Single nucleotide variant
(intron variant)
Hereditary spherocytosis type 3
+3 more
GConflicting classifications of pathogenicity
SPTA1
(K16M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SPTA1
(S109F)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+3 more
GConflicting classifications of pathogenicity
SPTA1
Single nucleotide variant
(synonymous variant)
Elliptocytosis 2
+2 more
GUncertain significance
SPTA1
Single nucleotide variant
(intron variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
Single nucleotide variant
(synonymous variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
(A392V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SPTA1
Single nucleotide variant
(intron variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
(R470H)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+3 more
GUncertain significance
SPTA1
(A497S)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
OR10Z1, SPTA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
OR10Z1, SPTA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
(R701S)
Single nucleotide variant
(missense variant)
SPTA1-related disorder
+4 more
GUncertain significance
SPTA1
Single nucleotide variant
(intron variant)
SPTA1-related disorder
+4 more
GConflicting classifications of pathogenicity
SPTA1
(A867E)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+3 more
GConflicting classifications of pathogenicity
SPTA1
(E1408D)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
(R1414C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SPTA1
(L1646F)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
Single nucleotide variant
(intron variant)
Elliptocytosis 2
+3 more
GConflicting classifications of pathogenicity
SPTA1
(R137H)
Single nucleotide variant
(missense variant)
Elliptocytosis 2
+3 more
GUncertain significance
SPTA1
(R2016H)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+3 more
GUncertain significance
SPTA1
(R250H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SPTA1
Single nucleotide variant
(synonymous variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
(S444A)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
Single nucleotide variant
(intron variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
OR10Z1, SPTA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 3
+2 more
GConflicting classifications of pathogenicity
OR10Z1, SPTA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
OR10Z1, SPTA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
(H729Q)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
(L749M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SPTA1
Single nucleotide variant
(intron variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
(A871V)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+4 more
GUncertain significance
SPTA1
(R959W)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
Single nucleotide variant
(intron variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
(R991C)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+2 more
GConflicting classifications of pathogenicity
SPTA1
(V870M)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+4 more
GConflicting classifications of pathogenicity
SPTA1
(R1757H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SPTA1
(H1755D)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
GLikely pathogenic
SPTA1
Single nucleotide variant
(intron variant)
Pyropoikilocytosis, hereditary
+4 more
GConflicting classifications of pathogenicity
SPTA1
(R250C)
Single nucleotide variant
(missense variant)
Pyropoikilocytosis, hereditary
+3 more
GConflicting classifications of pathogenicity
SPTA1
(A1531P)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+4 more
GConflicting classifications of pathogenicity
SPTA1
Single nucleotide variant
(synonymous variant)
Hereditary spherocytosis type 3
+3 more
GConflicting classifications of pathogenicity
SPTA1
(N394S)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+4 more
GConflicting classifications of pathogenicity
SPTA1
(R1077H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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