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Links from OMIM

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EIF4G1
(A502V +5 more)
Single nucleotide variant
(missense variant)
Parkinson disease 18, autosomal dominant, susceptibility to
Grisk factor
BRAF
(V600E +7 more)
Single nucleotide variant
(missense variant)
Vascular malformation
+5 more
GPathogenic/Likely pathogenic
STier I - Strong
OOncogenic