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Links from MedGen

Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLR1C, RSPH9
(A293P +3 more)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 12
GUncertain significance
RSPH9, POLR1C
(A94V)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 12
+1 more
GUncertain significance
POLR1C, RSPH9
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 12
GUncertain significance
RSPH9, POLR1C
(R49L)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 12
GUncertain significance
POLR1C, RSPH9
(D38Y)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 12
GUncertain significance
POLR1C, RSPH9
(A299D +1 more)
Single nucleotide variant
(missense variant +3 more)
Primary ciliary dyskinesia 12
GUncertain significance
POLR1C, RSPH9
(N269I +3 more)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 12
GUncertain significance
POLR1C, RSPH9
(E286Q +3 more)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 12
GUncertain significance
RSPH9, POLR1C
(V263M +3 more)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 12
+1 more
GUncertain significance
POLR1C, RSPH9
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia 12
GUncertain significance
POLR1C, RSPH9
(R254C +3 more)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
+2 more
GUncertain significance
POLR1C, RSPH9
(L291F +1 more)
Single nucleotide variant
(missense variant +3 more)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
POLR1C, RSPH9
(T200A +1 more)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 12
GUncertain significance
POLR1C, RSPH9
(R171Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 12
+2 more
GConflicting classifications of pathogenicity
POLR1C, RSPH9
(E129K)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 12
GUncertain significance
POLR1C, RSPH9
(M92I)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 12
+2 more
GUncertain significance
POLR1C, RSPH9
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
+2 more
GBenign
POLR1C, RSPH9
(A88V)
Single nucleotide variant
(missense variant +2 more)
not specified
+3 more
GBenign/Likely benign
POLR1C, RSPH9
(R139C)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
+1 more
GUncertain significance
POLR1C, RSPH9
(R284* +1 more)
Single nucleotide variant
(nonsense +3 more)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
POLR1C, RSPH9
(R278H +3 more)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
+3 more
GBenign
POLR1C, RSPH9
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
POLR1C, RSPH9
(V141M)
Single nucleotide variant
(missense variant +2 more)
not specified
+2 more
GConflicting classifications of pathogenicity
POLR1C, RSPH9
(Q18*)
Single nucleotide variant
(nonsense +2 more)
Primary ciliary dyskinesia 12
GPathogenic
POLR1C, RSPH9
(K268del +1 more)
Microsatellite
(inframe_deletion)
not provided
+2 more
GPathogenic
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