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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3CA
(N345K)
Single nucleotide variant
(missense variant)
not provided
+14 more
GPathogenic
PIK3CA
(H1047Y)
Single nucleotide variant
(missense variant)
Cowden syndrome
+17 more
GPathogenic
FGFR3
(R248C)
Single nucleotide variant
(missense variant +1 more)
FGFR3-related disorder
+31 more
GPathogenic
FGFR3
(S249C)
Single nucleotide variant
(missense variant +1 more)
not provided
+17 more
GPathogenic
OOncogenic
PTEN
(Q298E +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GLikely benign
HRAS, LRRC56
(G13C)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
GPathogenic
LRRC56, HRAS
(G12A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+8 more
GPathogenic
HRAS, LRRC56
(G12C)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GPathogenic
TP53
(R337H +3 more)
Single nucleotide variant
(missense variant +1 more)
Squamous cell carcinoma of the head and neck
+17 more
GPathogenic/Likely pathogenic
TP53
(R150P +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+14 more
GPathogenic/Likely pathogenic
TP53
(R141L +3 more)
Single nucleotide variant
(missense variant)
Nasopharyngeal carcinoma
+14 more
GPathogenic
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
(G245S +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
TP53
(S241F +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+14 more
GPathogenic/Likely pathogenic
TP53
(Y181C +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
TP53
(R175H +3 more)
Single nucleotide variant
(missense variant)
Colorectal cancer
+15 more
GPathogenic
SMAD4
(R361H)
Single nucleotide variant
(missense variant)
Myhre syndrome
+7 more
GPathogenic/Likely pathogenic
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