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Links from Gene

Items: 1 to 100 of 379

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RSPH4A
(P475H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(T345A)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(A216T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
AK9, AMD1
+70 more
Copy number loss
not provided
GPathogenic
LOC129997052, RSPH4A
(S35P)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 11
GUncertain significance
RSPH4A
(K459M)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(Y559* +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
(E395D)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
(L341F)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
AKAP7, AMD1
+87 more
Copy number gain
not specified
GLikely pathogenic
RSPH4A
(E389K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia
GLikely pathogenic
RSPH4A
(Q625*)
Single nucleotide variant
(nonsense +1 more)
Primary ciliary dyskinesia
GPathogenic
RSPH4A
(G361D)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely pathogenic
RSPH4A
(Q618*)
Single nucleotide variant
(nonsense +1 more)
Primary ciliary dyskinesia
GPathogenic
RSPH4A
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
(S599fs +1 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia
GPathogenic
RSPH4A
(K457R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
(G562E +1 more)
Single nucleotide variant
(nonsense +1 more)
Primary ciliary dyskinesia
GPathogenic
RSPH4A
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
(M261T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
(K239R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RSPH4A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RSPH4A
(E584D)
Single nucleotide variant
(missense variant +1 more)
RSPH4A-related disorder
GUncertain significance
RSPH4A
(T79fs)
Deletion
(frameshift variant)
RSPH4A-related disorder
GLikely pathogenic
RSPH4A
(H232N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ARHGAP18, ASF1A
+316 more
Copy number loss
Intellectual disability, autosomal dominant 55, with seizures
GPathogenic
ASF1A, CALHM4
+39 more
Copy number loss
6q terminal deletion syndrome
GLikely pathogenic
RSPH4A
(A369P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RSPH4A
(R423T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(V299A)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
(D269A)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(S132T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(I417K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
LOC129997052, RSPH4A
(S31F)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
LOC129997052, RSPH4A
(S31P)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(P561S +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(G565S +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 11
+1 more
GUncertain significance
ASF1A, CALHM4
+24 more
Deletion
Congenital disorder of glycosylation, type IAA
GPathogenic
RSPH4A
(T138N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(Q155fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia
GPathogenic
RSPH4A
(V315I)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
RSPH4A
(Y335H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(G394R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(R354C)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
LOC129997052, RSPH4A
(R53C)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(K460Q)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(E509D)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(E243K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(L278F)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
(Q272E)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(A171P)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(A413T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(A398V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(P605R +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
(S671G)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
LOC129997052, RSPH4A
(W24*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
GPathogenic
RSPH4A
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
(Q130R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(A75V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(I255T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(A171V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
Single nucleotide variant
(splice acceptor variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
(E421*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
GPathogenic
RSPH4A
(S205G)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
LOC129997052, RSPH4A
(S35Y)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
LOC129997052, RSPH4A
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
(E89G)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(H496P)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
(N543S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GUncertain significance
CALHM4, CALHM5
+3 more
Copy number loss
not provided
GUncertain significance
RSPH4A
(P87L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(G72V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
GLikely benign
RSPH4A
(L698R)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(P659L)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(I646V)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
RSPH4A
(Y645H)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
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