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Items: 1 to 100 of 1055

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862060, LOC126862061
+3282 more
Copy number gain
See cases
GPathogenic
LOC125048449, LOC125048450
+3277 more
Copy number gain
See cases
GPathogenic
ACTR10, AKAP5
+344 more
Copy number loss
See cases
GPathogenic
LOC132090233, LOC132090234
+264 more
Copy number loss
See cases
GPathogenic
AKAP5, CHURC1
+130 more
Copy number loss
See cases
GPathogenic
PLEKHG3, SPTB
(G2313S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
PLEKHG3, SPTB
(D2309N)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PLEKHG3, SPTB
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+1 more
GBenign
PLEKHG3, SPTB
(R2294G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PLEKHG3, SPTB
(E2289A)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PLEKHG3, SPTB
(E2289K)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
PLEKHG3, SPTB
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
PLEKHG3, SPTB
Single nucleotide variant
(3 prime UTR variant +1 more)
SPTB-related disorder
GLikely benign
PLEKHG3, SPTB
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
PLEKHG3, SPTB
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
PLEKHG3, SPTB
(K2253del)
Microsatellite
(inframe_deletion +1 more)
not provided
GConflicting classifications of pathogenicity
PLEKHG3, SPTB
(K2253Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PLEKHG3, SPTB
(A2246V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial hemolytic anemia
GUncertain significance
PLEKHG3, SPTB
(I2245T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PLEKHG3, SPTB
Duplication
(3 prime UTR variant +1 more)
not provided
GUncertain significance
PLEKHG3, SPTB
(R2239K)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PLEKHG3, SPTB
(L2236M)
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial hemolytic anemia
GUncertain significance
PLEKHG3, SPTB
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
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
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