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Links from MedGen

Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC103
Deletion
(splice donor variant)
Primary ciliary dyskinesia 17
GLikely pathogenic
CCDC103
Indel
(missense variant +1 more)
Primary ciliary dyskinesia 17
GUncertain significance
CCDC103
(E93K +1 more)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC103
(A11P)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC103
Single nucleotide variant
(5 prime UTR variant)
Primary ciliary dyskinesia 17
GUncertain significance
CCDC103, FAM187A
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia 17
GUncertain significance
CCDC103, FAM187A
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia 17
GUncertain significance
CCDC103, GFAP
Single nucleotide variant
(3 prime UTR variant)
Primary ciliary dyskinesia 17
GUncertain significance
CCDC103
Single nucleotide variant
(3 prime UTR variant)
Primary ciliary dyskinesia 17
GUncertain significance
CCDC103
Single nucleotide variant
(3 prime UTR variant)
Primary ciliary dyskinesia 17
GUncertain significance
CCDC103
(G224A)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 17
GUncertain significance
CCDC103
(R185Q)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 17
+1 more
GUncertain significance
CCDC103
(R35Q)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 17
+1 more
GUncertain significance
CCDC103
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CCDC103
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia 17
GUncertain significance
CCDC103
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC103
(G66E)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC103
(P92L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC103, FAM187A
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia 17
GUncertain significance
CCDC103, FAM187A
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia 17
GUncertain significance
CCDC103, FAM187A
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC103, FAM187A
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia 17
GUncertain significance
CCDC103, FAM187A
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia 17
GUncertain significance
CCDC103, FAM187A
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia 17
GUncertain significance
CCDC103, FAM187A
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia 17
GUncertain significance
CCDC103
Single nucleotide variant
(3 prime UTR variant)
Primary ciliary dyskinesia 17
GUncertain significance
CCDC103, FAM187A
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CCDC103
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC103
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC103
(R3K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 17
GUncertain significance
CCDC103
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia 17
GUncertain significance
CCDC103
Single nucleotide variant
(5 prime UTR variant)
Primary ciliary dyskinesia 17
GBenign
CCDC103
Single nucleotide variant
(5 prime UTR variant)
Primary ciliary dyskinesia 17
GUncertain significance
CCDC103
Single nucleotide variant
(5 prime UTR variant)
Primary ciliary dyskinesia 17
GUncertain significance
CCDC103
Single nucleotide variant
(5 prime UTR variant)
Primary ciliary dyskinesia 17
GUncertain significance
CCDC103
Single nucleotide variant
Primary ciliary dyskinesia 17
GUncertain significance
CCDC103
Single nucleotide variant
Primary ciliary dyskinesia 17
GUncertain significance
CCDC103
Single nucleotide variant
(splice donor variant +1 more)
not specified
+3 more
GBenign/Likely benign
CCDC103
Single nucleotide variant
(3 prime UTR variant)
Primary ciliary dyskinesia
+3 more
GBenign/Likely benign
CCDC103
(Y120C)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC103
(H154P)
Single nucleotide variant
(missense variant +1 more)
CCDC103-related condition
+3 more
GPathogenic/Likely pathogenic
CCDC103
(P129fs)
Duplication
(frameshift variant +1 more)
Primary ciliary dyskinesia 17
GPathogenic
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