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Items: 91

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861648, LOC126861649
+4836 more
Copy number gain
See cases
GPathogenic
ABTB3, ACACB
+316 more
Copy number loss
See cases
GPathogenic
SH2B3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SH2B3
Single nucleotide variant
(intron variant)
not provided
GBenign
SH2B3
(M1V)
Single nucleotide variant
(missense variant +1 more)
Primary familial polycythemia due to EPO receptor mutation
GPathogenic
SH2B3
(C30Y)
Single nucleotide variant
(missense variant)
Familial myelofibrosis
GUncertain significance
SH2B3
(V35L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SH2B3
(A38T)
Single nucleotide variant
(missense variant)
not specified
GBenign
SH2B3
(Q44R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SH2B3
(R50L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SH2B3
(L58V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SH2B3
(R77H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH2B3
(E78K)
Single nucleotide variant
(missense variant)
SH2B3-related condition
GLikely benign
SH2B3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SH2B3
(G114C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SH2B3
(L142F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SH2B3
(S150*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
SH2B3
(P155L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SH2B3
(A161V)
Single nucleotide variant
(missense variant)
Primary familial polycythemia due to EPO receptor mutation
GUncertain significance
SH2B3
(T165S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
SH2B3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
SH2B3
(F182L)
Single nucleotide variant
(missense variant)
SH2B3-related condition
+1 more
GBenign
SH2B3
(S186I)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SH2B3
(R202fs)
Deletion
(frameshift variant)
Primary myelofibrosis
GPathogenic
SH2B3
(R202P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SH2B3
(E208*)
Single nucleotide variant
(nonsense)
Primary familial polycythemia due to EPO receptor mutation
GAffects
CUX2, SH2B3
(E208Q)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 67
+3 more
GConflicting classifications of pathogenicity
SH2B3
(M211V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SH2B3
(S213R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SH2B3
(Q218K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SH2B3
(R221M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SH2B3
(R225P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SH2B3
(R226W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SH2B3
(D231N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SH2B3
(D231Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SH2B3
(R235C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SH2B3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SH2B3
Single nucleotide variant
(intron variant)
not provided
GBenign
SH2B3
Single nucleotide variant
(intron variant)
not provided
GBenign
SH2B3
(L6P)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
SH2B3
(R8H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SH2B3
Single nucleotide variant
(intron variant)
not provided
GBenign
SH2B3
Single nucleotide variant
(intron variant)
not provided
GBenign
SH2B3
Single nucleotide variant
(intron variant)
not provided
GBenign
SH2B3
Single nucleotide variant
(intron variant)
not specified
GLikely benign
SH2B3
(A50G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SH2B3
(I257T +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
SH2B3
(R261W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH2B3
(W262R +1 more)
Single nucleotide variant
(missense variant)
Primary familial polycythemia due to EPO receptor mutation
+3 more
GBenign
SH2B3
(R265Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH2B3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SH2B3
(L100F +1 more)
Single nucleotide variant
(missense variant)
SH2B3-related condition
GUncertain significance
SH2B3
(S101fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
SH2B3
(G105R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SH2B3
(E314K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SH2B3
Deletion
(intron variant)
SH2B3-related condition
GLikely benign
SH2B3
(G139D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SH2B3
(P344L +1 more)
Single nucleotide variant
(missense variant)
SH2B3-related condition
+2 more
GLikely benign
SH2B3
(A149V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SH2B3
(T355M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SH2B3
(P161S +1 more)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
SH2B3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SH2B3
(E193K +1 more)
Single nucleotide variant
(missense variant)
Primary familial polycythemia due to EPO receptor mutation
+1 more
GPathogenic/Likely pathogenic
SH2B3
(E198K +1 more)
Single nucleotide variant
(missense variant)
Primary myelofibrosis
+3 more
GUncertain significance
SH2B3
Deletion
(nonsense)
Hereditary cancer-predisposing syndrome
GPathogenic
SH2B3
Deletion
(intron variant)
SH2B3-related condition
GLikely benign
SH2B3
Microsatellite
(intron variant)
not specified
GLikely benign
SH2B3
Microsatellite
(intron variant)
not provided
GBenign
SH2B3
Single nucleotide variant
(intron variant)
not provided
GBenign
SH2B3
(Q240P +1 more)
Single nucleotide variant
(missense variant)
Primary myelofibrosis
GUncertain significance
SH2B3
(R241C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SH2B3
(S444L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SH2B3
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
SH2B3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SH2B3
(L274F +1 more)
Single nucleotide variant
(missense variant)
not specified
GBenign
SH2B3
Deletion
(inframe_deletion +1 more)
not provided
GLikely benign
SH2B3
(L296P +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer
GLikely benign
SH2B3
(L299F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SH2B3
(R508Q +1 more)
Single nucleotide variant
(missense variant)
SH2B3-related condition
+1 more
GBenign/Likely benign
SH2B3
(E321fs +1 more)
Duplication
(frameshift variant)
Primary myelofibrosis
GLikely pathogenic
SH2B3
(R349W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SH2B3
(Y370C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SH2B3
Single nucleotide variant
(3 prime UTR variant)
SH2B3-related condition
GUncertain significance
SH2B3
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
ABTB3, ACACB
+73 more
Copy number loss
not provided
GPathogenic
BRAP, ATXN2
+1 more
Copy number gain
not provided
GUncertain significance
ABTB3, ACACB
+60 more
Copy number loss
not provided
GPathogenic
ATXN2, BRAP
+4 more
Copy number gain
not provided
GUncertain significance
HMGA2, HNF1A
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
AGAP2, ARF3
+1007 more
Copy number gain
See cases
GPathogenic
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