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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PALB2
(S250I +1 more)
Single nucleotide variant
(missense variant)
Lung sarcomatoid carcinoma
GUncertain significance
ROS1
(D2027N +2 more)
Single nucleotide variant
(missense variant)
Lung sarcomatoid carcinoma
GUncertain significance
LOC110806263, TERT
Single nucleotide variant
Lung sarcomatoid carcinoma
GPathogenic
TP53
(I215S +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
(G154fs +2 more)
Deletion
(frameshift variant +1 more)
Neoplasm of ovary
+1 more
GPathogenic
MSH6
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
PDGFRA
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
LOC107303340, VHL
Single nucleotide variant
(synonymous variant +1 more)
Chuvash polycythemia
+2 more
GConflicting classifications of pathogenicity
RAD50
(V683I)
Single nucleotide variant
(missense variant)
Nijmegen breakage syndrome-like disorder
+1 more
GUncertain significance
TP53
(R174* +3 more)
Single nucleotide variant
(nonsense)
Li-Fraumeni syndrome
+4 more
GPathogenic
KRAS
(G12V)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+4 more
GPathogenic
KRAS
(G12C)
Single nucleotide variant
(missense variant)
RASopathy
GLikely pathogenic
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