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Links from OMIM

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTC7A
(E71K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ARHGEF10
(T332I +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant slowed nerve conduction velocity
Gno classifications from unflagged records