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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RSPH1
(D306H +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
RSPH1
(R303G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
RSPH1
(Q245* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 24
+1 more
GConflicting classifications of pathogenicity
RSPH1
(L188* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
+1 more
GPathogenic/Likely pathogenic
RSPH1
(A131T +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
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