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Links from MedGen

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR1
Duplication
(nonsense +3 more)
Astrocytoma
GUncertain significance
BAP1
(R146T)
Single nucleotide variant
(missense variant)
Astrocytoma
GLikely pathogenic
CPLANE1
(Y119C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TSC1
(L120P)
Single nucleotide variant
(missense variant +2 more)
Kidney angiomyolipoma
+2 more
GUncertain significance
Duplication
Astrocytoma
GLikely pathogenic
KMT2D
(E5292D)
Single nucleotide variant
(missense variant)
Astrocytoma
GUncertain significance
EPHA5
(D348G +1 more)
Single nucleotide variant
(missense variant)
Astrocytoma
GUncertain significance
ARID1B
(C251G +1 more)
Single nucleotide variant
(missense variant)
Astrocytoma
GUncertain significance
ARID1A
Microsatellite
(inframe_insertion)
ARID1A-related disorder
+4 more
GConflicting classifications of pathogenicity
H3-3A
(K28M)
Single nucleotide variant
(missense variant)
Astrocytoma
+1 more
GLikely pathogenic
FGFR1
(M515V +7 more)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+4 more
GLikely pathogenic
FGFR1
(N546D +7 more)
Single nucleotide variant
(missense variant)
Astrocytoma
+4 more
GLikely pathogenic
FGFR1
(K656N +7 more)
Single nucleotide variant
(missense variant)
Lymphoblastic leukemia, acute, with lymphomatous features
+5 more
GLikely pathogenic
IDH1
(R132S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
IDH1
(R132C)
Single nucleotide variant
(missense variant)
Glioma susceptibility 1
+4 more
GPathogenic/Likely 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)
Encephalocraniocutaneous lipomatosis
+1 more
GPathogenic
IDH1
(R132H)
Single nucleotide variant
(missense variant)
Metaphyseal chondromatosis
+3 more
GPathogenic/Likely pathogenic
TP53
(R151H +3 more)
Single nucleotide variant
(missense variant)
Astrocytoma
+7 more
GUncertain significance
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
Breast neoplasm
+20 more
GPathogenic
PTPN11
(E76A +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PTPN11
(E76G +1 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+2 more
GConflicting classifications of pathogenicity
PTPN11
(E76K +1 more)
Single nucleotide variant
(missense variant)
PTPN11-related disorder
+3 more
GConflicting classifications of pathogenicity
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