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Links from MedGen

Items: 1 to 100 of 236

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(H244Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia 32
GPathogenic
RSPH3
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(L317S +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(E52*)
Single nucleotide variant
(nonsense +2 more)
Primary ciliary dyskinesia 32
GPathogenic
RSPH3
(T229K +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(P141fs)
Deletion
(frameshift variant +2 more)
Primary ciliary dyskinesia 32
GPathogenic
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(F271S +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Deletion
(nonsense +2 more)
Primary ciliary dyskinesia 32
GPathogenic
RSPH3
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(G153D)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(L210I +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3, TAGAP-AS1
(G24V)
Single nucleotide variant
(non-coding transcript variant +2 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(S74C)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(Q94*)
Single nucleotide variant
(nonsense +2 more)
Primary ciliary dyskinesia 32
GLikely pathogenic
RSPH3, TAGAP-AS1
(R13T)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(G75A)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(L210Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3, TAGAP-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(L267F +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(T381A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
RSPH3, TAGAP-AS1
(A8T)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(R81W)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(M192T +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3, TAGAP-AS1
(G24S)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(L41V)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3, TAGAP-AS1
(R18G)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(P97A)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(R215H +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Deletion
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3, TAGAP-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(N212K +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
RSPH3
(K438fs +1 more)
Deletion
(frameshift variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3, TAGAP-AS1
(L11V)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(Y329C +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(P101T)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(R199Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(T60S +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(P45R)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(D47fs)
Deletion
(frameshift variant +2 more)
Primary ciliary dyskinesia 32
GPathogenic
RSPH3, TAGAP-AS1
(G28R)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(L146V)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3, TAGAP-AS1
(G28R)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(E177K +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GBenign
RSPH3
(R125C)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GBenign
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Deletion
(intron variant)
RSPH3-related condition
+1 more
GLikely benign
RSPH3
Single nucleotide variant
(splice donor variant +1 more)
Primary ciliary dyskinesia 32
GLikely pathogenic
RSPH3
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia 32
GLikely pathogenic
RSPH3
(T151N +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3, TAGAP-AS1
(R18H)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(T183A +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
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