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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OFD1
(L299V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OFD1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
OFD1
(E356fs +2 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
OFD1
(R909* +2 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
+3 more
GPathogenic
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