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Links from MedGen

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ETV6
(G337V +4 more)
Single nucleotide variant
(missense variant)
Thrombocytopenia 5
GPathogenic
ETV6
(E36fs +2 more)
Deletion
(frameshift variant +1 more)
Thrombocytopenia 5
GLikely pathogenic
ETV6
(R13Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ETV6
Single nucleotide variant
(splice acceptor variant)
Thrombocytopenia 5
GLikely pathogenic
ETV6
(I138L +3 more)
Single nucleotide variant
(missense variant)
Thrombocytopenia 5
GUncertain significance
ETV6
(A40V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
ETV6
(R418M +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ETV6
(S323C)
Single nucleotide variant
(missense variant)
Thrombocytopenia 5
GLikely pathogenic
ETV6, LOC126861452
(R359L)
Single nucleotide variant
(missense variant)
Thrombocytopenia 5
GUncertain significance
ETV6, LOC126861452
Deletion
(intron variant)
Thrombocytopenia 5
GUncertain significance
ETV6
(R39Q)
Single nucleotide variant
(missense variant)
Thrombocytopenia 5
+1 more
GUncertain significance
ETV6, LOC126861452
(D362G)
Single nucleotide variant
(missense variant)
Thrombocytopenia 5
GUncertain significance
ETV6, LOC126861452
(V345G)
Single nucleotide variant
(missense variant)
Thrombocytopenia 5
GUncertain significance
ETV6
Deletion
Thrombocytopenia 5
GPathogenic
ETV6
(R399H)
Single nucleotide variant
(missense variant)
Thrombocytopenia 5
+1 more
GLikely pathogenic
ETV6, LOC126861452
Indel
(missense variant)
Thrombocytopenia 5
GUncertain significance
ETV6
(R127Q)
Single nucleotide variant
(missense variant)
Thrombocytopenia 5
+3 more
GConflicting classifications of pathogenicity
ETV6
(P136A)
Single nucleotide variant
(missense variant)
Thrombocytopenia 5
GUncertain significance
ETV6
(R211H)
Single nucleotide variant
(missense variant)
Thrombocytopenia 5
+1 more
GUncertain significance
ETV6, LOC126861452
(R369W)
Single nucleotide variant
(missense variant)
Thrombocytopenia
+1 more
GLikely pathogenic
ETV6
(R202Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ETV6
(L205fs)
Deletion
(frameshift variant)
Thrombocytopenia 5
GPathogenic/Likely pathogenic
ETV6, LOC126861452
Single nucleotide variant
(intron variant)
Thrombocytopenia 5
+2 more
GConflicting classifications of pathogenicity
ETV6
(R418G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ETV6
Single nucleotide variant
(missense variant)
Thrombocytopenia 5
+1 more
GPathogenic/Likely pathogenic
ETV6, LOC126861452
Single nucleotide variant
(missense variant)
Methylmalonic acidemia
+4 more
GPathogenic/Likely pathogenic
ETV6
Single nucleotide variant
(missense variant)
Thrombocytopenia 5
+1 more
GPathogenic
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