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Links from MedGen

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CREBBP
(P1385fs +1 more)
Deletion
(frameshift variant)
Malignant lymphoma, large B-cell, diffuse
GPathogenic
SOCS1
(Y154*)
Single nucleotide variant
(nonsense)
Malignant lymphoma, large B-cell, diffuse
GPathogenic
PMS2
Single nucleotide variant
(splice donor variant +1 more)
Malignant lymphoma, large B-cell, diffuse
GPathogenic
TP53
(D100A +3 more)
Single nucleotide variant
(missense variant +1 more)
Malignant lymphoma, large B-cell, diffuse
GPathogenic
SF3A1
(S548fs)
Deletion
(frameshift variant)
Malignant lymphoma, large B-cell, diffuse
GPathogenic
ETV6
Single nucleotide variant
(splice donor variant)
Malignant lymphoma, large B-cell, diffuse
GLikely pathogenic
NF1
(S2334I +1 more)
Single nucleotide variant
(missense variant)
Malignant lymphoma, large B-cell, diffuse
GUncertain significance
FOXO1
(G161D)
Single nucleotide variant
Malignant lymphoma, large B-cell, diffuse
GPathogenic
CD79B, GH-LCR
(Y196H +3 more)
Single nucleotide variant
(missense variant)
Malignant lymphoma, large B-cell, diffuse
GLikely pathogenic
TBL1XR1
(K311* +1 more)
Single nucleotide variant
(nonsense)
Malignant lymphoma, large B-cell, diffuse
GLikely pathogenic
DNMT3A
(Y512C +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
+2 more
GConflicting classifications of pathogenicity
PTEN
(N126fs +2 more)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
CHEK2
Single nucleotide variant
(intron variant +1 more)
Familial cancer of breast
GLikely pathogenic
NBN
(R466fs +1 more)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
BTK
(C481S +1 more)
Single nucleotide variant
(intron variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
BRAF
(L525R +7 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
STAT3
(Y640F +7 more)
Single nucleotide variant
(missense variant)
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
+3 more
GConflicting classifications of pathogenicity
TBL1XR1
(Y446C +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
+1 more
GPathogenic
PTEN
(R173C +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
(K267fs +2 more)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
BRCA2
(T3033fs)
Duplication
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
MYD88
(L252P +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyogenic bacterial infections due to MyD88 deficiency
GUncertain significance
TP53
(R248W +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
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