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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEFH, PIK3IP1
+42 more
Inversion
Anaplastic ependymoma
GLikely pathogenic
RNF213, RNF213-AS1
(R4281W)
Single nucleotide variant
(missense variant)
Anaplastic ependymoma
Gother
RUNX1
(M52K +1 more)
Single nucleotide variant
(missense variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
PALB2
(E1083D)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GBenign
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