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Links from Gene

Items: 1 to 100 of 164

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129997730, DNAAF5
+1 more
(C84R)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DNAAF5, PRKAR1B
(A161V)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, PRKAR1B
(A7V)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, LOC129997730
+1 more
(R75C)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, PRKAR1B
(A3V)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, PRKAR1B
(E136Q)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, LOC129997730
+1 more
(A22V)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, PRKAR1B
(A144E)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, PRKAR1B
(A7T)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, LOC129997730
+1 more
(A64G)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
PRKAR1B
(R305C)
Single nucleotide variant
(missense variant)
Marbach-Schaaf neurodevelopmental syndrome
GUncertain significance
PRKAR1B, PRKAR1B-AS1
Single nucleotide variant
(synonymous variant)
PRKAR1B-related disorder
GLikely benign
DNAAF5, PRKAR1B
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
+1 more
GLikely benign
DNAAF5, PRKAR1B
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, PRKAR1B
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
PRKAR1B, DNAAF5
(A137V)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, PRKAR1B
(L117fs)
Deletion
(frameshift variant +2 more)
Primary ciliary dyskinesia
GPathogenic
DNAAF5, LOC129997730
+1 more
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, LOC129997730
+1 more
(P44S)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, PRKAR1B
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, LOC129997730
+1 more
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, PRKAR1B
Duplication
(inframe_insertion +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, PRKAR1B
(L117fs)
Duplication
(frameshift variant +2 more)
Primary ciliary dyskinesia
GPathogenic
DNAAF5, PRKAR1B
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, LOC129997730
+1 more
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, PRKAR1B
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, PRKAR1B
(A94G)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, LOC129997730
+1 more
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, LOC129997730
+1 more
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, PRKAR1B
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, PRKAR1B
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, PRKAR1B
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, PRKAR1B
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, LOC129997730
+1 more
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, LOC129997731
+1 more
Single nucleotide variant
(synonymous variant +3 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, PRKAR1B
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, LOC129997730
+1 more
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
PRKAR1B, PRKAR1B-AS1
(F174L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAAF5, LOC129997731
+1 more
Single nucleotide variant
(synonymous variant +3 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, LOC129997730
+1 more
(G45S)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, LOC129997730
+1 more
(R48C)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, PRKAR1B
(A96V)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, PRKAR1B
(C156G)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GLikely benign
PRKAR1B, DNAAF5
+1 more
(S174A)
Single nucleotide variant
(missense variant +3 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, PRKAR1B
(R132C)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, LOC129997731
+1 more
(C173Y)
Single nucleotide variant
(missense variant +3 more)
Primary ciliary dyskinesia
GUncertain significance
PRKAR1B, PRKAR1B-AS1
(F174L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAAF5, PRKAR1B
(L4P)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GConflicting classifications of pathogenicity
DNAAF5, LOC129997730
+1 more
(E58K)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, LOC129997730
+1 more
(L77P)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, LOC129997730
+1 more
(R54G)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, LOC129997730
+1 more
(P72S)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
PRKAR1B, PRKAR1B-AS1
(A160T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DNAAF5, PRKAR1B
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, PRKAR1B
(P130S)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, PRKAR1B
(A192G)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, LOC129997730
+1 more
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, PRKAR1B
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, LOC129997730
+1 more
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
LOC129997731, DNAAF5
+1 more
Single nucleotide variant
(synonymous variant +3 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, PRKAR1B
(P110S)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, LOC129997731
+1 more
(L175fs)
Duplication
(frameshift variant +3 more)
Primary ciliary dyskinesia
GPathogenic
DNAAF5, LOC129997731
+1 more
Single nucleotide variant
(synonymous variant +3 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, LOC129997730
+1 more
(L50F)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, LOC129997731
+1 more
(L176F)
Single nucleotide variant
(missense variant +3 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, LOC129997730
+1 more
(R29H)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, PRKAR1B
(S186G)
Single nucleotide variant
(missense variant +3 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, LOC129997730
+1 more
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, LOC129997730
+1 more
(W73*)
Single nucleotide variant
(intron variant +2 more)
Primary ciliary dyskinesia
GPathogenic
DNAAF5, LOC129997730
+1 more
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, PRKAR1B
(D87Y)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, LOC129997730
+1 more
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, LOC129997730
+1 more
(L81M)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, PRKAR1B
(E8A)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
PRKAR1B, DNAAF5
+1 more
(W73S)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DNAAF5, LOC129997730
+1 more
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, LOC129997730
+1 more
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, LOC129997730
+1 more
(A64S)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, LOC129997730
+1 more
(A64T)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, LOC129997730
+1 more
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, PRKAR1B
(V6A)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, LOC129997730
+1 more
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, PRKAR1B
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, LOC129997731
+1 more
Single nucleotide variant
(synonymous variant +3 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, LOC129997731
+1 more
(P178L)
Single nucleotide variant
(missense variant +3 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, PRKAR1B
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, PRKAR1B
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, PRKAR1B
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, PRKAR1B
(A12D)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, PRKAR1B
(E139G)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DNAAF5, PRKAR1B
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, PRKAR1B
Single nucleotide variant
(synonymous variant +3 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, LOC129997731
+1 more
Single nucleotide variant
(synonymous variant +3 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, PRKAR1B
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAAF5, LOC129997730
+1 more
(L27V)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, LOC129997730
+1 more
(R80C)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, LOC129997730
+1 more
(P72L)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, LOC129997731
+1 more
(C173R)
Single nucleotide variant
(non-coding transcript variant +3 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, PRKAR1B
(A2E)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAAF5, LOC129997730
+1 more
(A19S)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
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