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Links from MedGen

Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RSPH1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+1 more
GBenign/Likely benign
RSPH1
(Q175* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 24
GLikely pathogenic
LOC130066749, RSPH1
Single nucleotide variant
(genic upstream transcript variant)
Primary ciliary dyskinesia 24
+1 more
GBenign
RSPH1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
RSPH1
Deletion
(intron variant)
Primary ciliary dyskinesia
+2 more
GBenign/Likely benign
RSPH1
(D306H +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 24
+1 more
GUncertain significance
RSPH1
(Q245* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
RSPH1
(A131T +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
RSPH1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 24
+1 more
GBenign/Likely benign
LOC126653391, RSPH1
(R28* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 24
+1 more
GPathogenic/Likely pathogenic
RSPH1
(Y105* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 24
GPathogenic
RSPH1
(S243G +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RSPH1
(R303G +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GConflicting classifications of pathogenicity
RSPH1
(L217W +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 24
+3 more
GBenign/Likely benign
RSPH1
(G248R +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
RSPH1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 24
+3 more
GBenign
RSPH1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 24
+2 more
GLikely pathogenic
RSPH1
(L188* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 24
+1 more
GPathogenic/Likely pathogenic
RSPH1
(W94* +1 more)
Single nucleotide variant
(nonsense)
RSPH1-related condition
+1 more
GPathogenic/Likely pathogenic
RSPH1
(G103D +1 more)
Single nucleotide variant
(missense variant)
RSPH1-related condition
GUncertain significance
RSPH1
Single nucleotide variant
(splice acceptor variant)
RSPH1-related condition
+3 more
GPathogenic
RSPH1
(K136fs +1 more)
Microsatellite
(frameshift variant)
Primary ciliary dyskinesia 24
GLikely pathogenic
RSPH1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GPathogenic
LOC126653391, RSPH1
(E29*)
Single nucleotide variant
(nonsense +1 more)
Primary ciliary dyskinesia 24
+1 more
GPathogenic
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