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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OFD1
(H50R)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 10
+3 more
GConflicting classifications of pathogenicity
OFD1
(M141R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
OFD1
(A506G +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+3 more
GUncertain significance
OFD1
(R428H +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
OFD1
(E958Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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