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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EGFR
(P1019T +3 more)
Single nucleotide variant
(missense variant)
Glioblastoma multiforme, somatic
GUncertain significance
EGFR
(P1019Q +3 more)
Single nucleotide variant
(missense variant)
Glioblastoma multiforme, somatic
GUncertain significance
ATRX
(S2147I +1 more)
Single nucleotide variant
(missense variant)
Glioblastoma multiforme, somatic
GUncertain significance
IDH1
(R132H)
Single nucleotide variant
(missense variant)
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
+4 more
GPathogenic/Likely pathogenic
OOncogenic
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