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Items: 1 to 100 of 1023

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTB
(H2189Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPTB
(R2187C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPTB
(M2181R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPTB
(V2179fs)
Microsatellite
(frameshift variant)
Hereditary spherocytosis type 2
GPathogenic
SPTB
(R2173P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SPTB
(R2173Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPTB
(P2172S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPTB
(P2170L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SPTB
(T2168M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTB
(A2167T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SPTB
Single nucleotide variant
(synonymous variant)
SPTB-related disorder
GLikely benign
SPTB
(P2166A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SPTB
(E2162K)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
SPTB
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
SPTB
(S2161R)
Single nucleotide variant
(missense variant)
not specified
GBenign
SPTB
(T2158K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTB
(E2150D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPTB
(P2147L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPTB
Duplication
(inframe_insertion)
not provided
GUncertain significance
SPTB
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SPTB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPTB
(P2132L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPTB
Single nucleotide variant
(synonymous variant)
SPTB-related disorder
GLikely benign
SPTB
(P2131L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTB
(P2131A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPTB
(Q2127K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTB
(N2125K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPTB
(Q2124fs)
Deletion
(frameshift variant)
SPTB-related disorder
GLikely pathogenic
SPTB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPTB
(T2121A)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SPTB
(E2119del)
Microsatellite
(inframe_deletion)
Elliptocytosis 3
+2 more
GUncertain significance
SPTB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SPTB
Duplication
(intron variant)
not provided
GBenign
SPTB
Single nucleotide variant
(3 prime UTR variant +1 more)
Spherocytosis, Dominant
+2 more
GLikely benign
SPTB
Single nucleotide variant
(intron variant +1 more)
Spherocytosis, Dominant
+1 more
GUncertain significance
SPTB
Single nucleotide variant
(3 prime UTR variant +1 more)
Elliptocytosis
+1 more
GUncertain significance
SPTB
Single nucleotide variant
(3 prime UTR variant +1 more)
Elliptocytosis
+1 more
GUncertain significance
SPTB
Single nucleotide variant
(3 prime UTR variant +1 more)
Spherocytosis, Dominant
+2 more
GLikely benign
SPTB
(L2122M)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
SPTB
Single nucleotide variant
(synonymous variant)
Spherocytosis, Dominant
+2 more
GConflicting classifications of pathogenicity
SPTB
(S2105A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPTB
(P2091T)
Single nucleotide variant
(missense variant)
Familial hemolytic anemia
GLikely benign
SPTB
Duplication
(intron variant)
Spherocytosis, Dominant
+2 more
GConflicting classifications of pathogenicity
SPTB
Single nucleotide variant
(intron variant)
Elliptocytosis
+3 more
GBenign/Likely benign
SPTB
Single nucleotide variant
(intron variant)
Elliptocytosis
+1 more
GUncertain significance
SPTB
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SPTB
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SPTB
Single nucleotide variant
(intron variant)
Elliptocytosis 3
GPathogenic
SPTB
(I2081T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SPTB
(R2079H)
Single nucleotide variant
(missense variant)
Spherocytosis, Dominant
+2 more
GUncertain significance
SPTB
(R2079C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPTB
(E2075G)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
SPTB
(E2075Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SPTB
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
SPTB
(A2066fs)
Duplication
(frameshift variant)
Hereditary spherocytosis
GLikely pathogenic
SPTB
(F2065V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTB
(R2064P)
Single nucleotide variant
(missense variant)
Elliptocytosis 3
GPathogenic
SPTB
(E2063fs)
Microsatellite
(frameshift variant)
not provided
GLikely pathogenic
SPTB
(W2061G)
Single nucleotide variant
(missense variant)
Elliptocytosis 3
GUncertain significance
SPTB
(S2060fs)
Deletion
(frameshift variant)
Elliptocytosis 3
GPathogenic
SPTB
(A2059P)
Single nucleotide variant
(missense variant)
Elliptocytosis 3
GLikely pathogenic
SPTB
Single nucleotide variant
(synonymous variant)
Elliptocytosis
+2 more
GConflicting classifications of pathogenicity
SPTB
(T2058M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTB
(S2057fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
SPTB
(A2053P)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SPTB
(I2048L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPTB
(K2046fs)
Microsatellite
(frameshift variant)
Elliptocytosis 3
GPathogenic
SPTB
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
SPTB
(T2040fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic/Likely pathogenic
SPTB
(T2040I)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 2
GLikely pathogenic
SPTB
Indel
(nonsense)
not provided
GLikely pathogenic
SPTB
(L2032P)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis
GPathogenic
SPTB
(L2025R)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 2
+1 more
GConflicting classifications of pathogenicity
SPTB
(W2024*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
SPTB
(W2024R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SPTB
(A2023V)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 2
+2 more
GConflicting classifications of pathogenicity
SPTB
(A2021P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTB
(V2020fs)
Microsatellite
(frameshift variant)
Hereditary spherocytosis type 2
GPathogenic
SPTB
(S2019F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTB
(S2019P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SPTB
(A2018D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTB
(A2018G)
Single nucleotide variant
(missense variant)
Pyropoikilocytosis, hereditary
+1 more
GPathogenic
SPTB
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
SPTB
(F2014C)
Single nucleotide variant
(missense variant)
Elliptocytosis 3
GUncertain significance
SPTB
(Q2013*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SPTB
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SPTB
Single nucleotide variant
(intron variant)
Elliptocytosis
+3 more
GBenign/Likely benign
SPTB
(R2006P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTB
(R2006H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SPTB
(R2006L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTB
(R2006C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPTB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPTB
(R2004G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTB
(R2004W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPTB
(R2001H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPTB
(R2001C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPTB
(W1998*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
SPTB
(E1996K)
Single nucleotide variant
(missense variant)
SPTB-related disorder
GUncertain significance
SPTB
(K1992fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
SPTB
(Q1985*)
Single nucleotide variant
(nonsense)
Hereditary spherocytosis type 2
GLikely pathogenic
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