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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYD88
(L252P +2 more)
Single nucleotide variant
(stop lost +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
EZH2
(A682G +4 more)
Single nucleotide variant
(missense variant)
Lymphoma
GLikely pathogenic
EZH2
(Y646S +4 more)
Single nucleotide variant
(missense variant)
Lymphoma
+2 more
GLikely pathogenic
EZH2
(Y646F +4 more)
Single nucleotide variant
(missense variant)
Malignant melanoma of skin
+2 more
GLikely pathogenic
EZH2
(Y646N +4 more)
Single nucleotide variant
(missense variant)
Lymphoma
+2 more
GLikely pathogenic
EZH2
(Y646H +4 more)
Single nucleotide variant
(missense variant)
Malignant melanoma of skin
+2 more
GLikely pathogenic
TP53
(R248Q +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
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