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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
H3-3A
(K28M)
Single nucleotide variant
(missense variant)
Astrocytoma
+1 more
GLikely pathogenic
IDH1
(R132H)
Single nucleotide variant
(missense variant)
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
+4 more
GPathogenic/Likely pathogenic
OOncogenic
IDH1
(R132S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
IDH1
(R132C)
Single nucleotide variant
(missense variant)
Enchondromatosis
+5 more
GPathogenic/Likely pathogenic
OOncogenic
FGFR1
(K656N +7 more)
Single nucleotide variant
(missense variant)
Lymphoblastic leukemia, acute, with lymphomatous features
+5 more
GLikely pathogenic
FGFR1
(K656E +7 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
+7 more
GConflicting classifications of pathogenicity
FGFR1
(N546K +7 more)
Single nucleotide variant
(missense variant)
Rosette-forming glioneuronal tumor
+2 more
GPathogenic
OOncogenic
FGFR1
(N546D +7 more)
Single nucleotide variant
(missense variant)
Astrocytoma
+4 more
GLikely pathogenic
FGFR1
(M515V +7 more)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+4 more
GLikely pathogenic
PTPN11
(E76K +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+3 more
GConflicting classifications of pathogenicity
PTPN11
(E76A +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PTPN11
(E76G +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GConflicting classifications of pathogenicity
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