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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNMT3A
(R693H +3 more)
Single nucleotide variant
(missense variant +1 more)
Abnormality of the nervous system
+6 more
GConflicting classifications of pathogenicity
STier II - Potential
DNMT3A
(R693C +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GPathogenic
DNMT3A
(C336Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Acute myeloid leukemia
GLikely pathogenic
TERT
(V1090M +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 2
+7 more
GUncertain significance
TERT
(E441del)
Microsatellite
(inframe_deletion +1 more)
TERT-related condition
+11 more
GConflicting classifications of pathogenicity
TERT
(E280K)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GConflicting classifications of pathogenicity
TEK
(G743A +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
IDH2
(R140Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
TP53
(R148K +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TP53
(R273H +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
TP53
(R248Q +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
TP53
(R248W +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
TP53
(Y181C +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
CEBPA, LOC130064183
(P11T +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Acute myeloid leukemia
+1 more
GUncertain significance
TGM6
(L517W)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
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