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Links from MedGen

Items: 1 to 100 of 297

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTA1
(R1507P)
Single nucleotide variant
(missense variant)
Pyropoikilocytosis, hereditary
GUncertain significance
SPTA1
(R1811Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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
Single nucleotide variant
(intron variant)
Pyropoikilocytosis, hereditary
+5 more
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)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
(Q1683H)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+3 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)
Hereditary spherocytosis type 3
+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)
Hereditary spherocytosis type 3
+3 more
GConflicting classifications of pathogenicity
SPTA1
(R2079L)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+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)
Elliptocytosis 2
+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)
not provided
+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)
not provided
+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)
Hereditary spherocytosis type 3
+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)
not provided
+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)
Hereditary spherocytosis type 3
+3 more
GUncertain significance
SPTA1
Single nucleotide variant
(intron variant)
not provided
+3 more
GUncertain significance
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)
Hereditary spherocytosis type 3
+3 more
GConflicting classifications of pathogenicity
SPTA1
(R137H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SPTA1
(R2016H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SPTA1
(R250H)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+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)
not provided
+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
(W190*)
Single nucleotide variant
(nonsense)
Pyropoikilocytosis, hereditary
GLikely pathogenic
SPTA1
Single nucleotide variant
(splice donor variant)
Pyropoikilocytosis, hereditary
+1 more
GPathogenic/Likely pathogenic
SPTA1
(E2139D)
Single nucleotide variant
(missense variant)
Pyropoikilocytosis, hereditary
GLikely pathogenic
SPTA1
Single nucleotide variant
(intron variant)
Pyropoikilocytosis, hereditary
+3 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)
Inborn genetic diseases
+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)
Pyropoikilocytosis, hereditary
+3 more
GConflicting classifications of pathogenicity
SPTA1
(R1077H)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+3 more
GConflicting classifications of pathogenicity
SPTA1
(G151D)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+3 more
GUncertain significance
SPTA1
(E11D)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+3 more
GConflicting classifications of pathogenicity
SPTA1
(R568H)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+3 more
GConflicting classifications of pathogenicity
SPTA1
(R1659*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SPTA1
(G1677R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTA1
(R2141W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SPTA1
(R563Q)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
SPTA1
(K1119N)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+3 more
GConflicting classifications of pathogenicity
SPTB
(R498H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SPTA1
Insertion
(5 prime UTR variant)
Elliptocytosis
+2 more
GLikely benign
SPTA1
Duplication
(5 prime UTR variant)
Pyropoikilocytosis, hereditary
+3 more
GBenign/Likely benign
SPTA1
Duplication
(5 prime UTR variant)
Pyropoikilocytosis, hereditary
+2 more
GUncertain significance
SPTA1
Microsatellite
(5 prime UTR variant)
Pyropoikilocytosis, hereditary
+2 more
GUncertain significance
SPTA1
Microsatellite
(5 prime UTR variant)
Pyropoikilocytosis, hereditary
+2 more
GUncertain significance
SPTA1
(F4L)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+3 more
GUncertain significance
SPTA1
(V9F)
Single nucleotide variant
(missense variant)
Elliptocytosis 2
+3 more
GUncertain significance
SPTA1
Single nucleotide variant
(synonymous variant)
Elliptocytosis 2
+3 more
GConflicting classifications of pathogenicity
SPTA1
Single nucleotide variant
(synonymous variant)
Hereditary spherocytosis type 3
+3 more
GConflicting classifications of pathogenicity
SPTA1
(D64E)
Single nucleotide variant
(missense variant)
Pyropoikilocytosis, hereditary
+3 more
GConflicting classifications of pathogenicity
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