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Links from MedGen

Items: 1 to 100 of 350

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPAG1
(I854fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 28
GLikely pathogenic
SPAG1
(N247S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
GUncertain significance
LOC130000832, SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
(K522T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
GUncertain significance
SPAG1
(D742Y)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
GUncertain significance
SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Duplication
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
(R563fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 28
GPathogenic
SPAG1
Duplication
(intron variant)
Primary ciliary dyskinesia 28
GBenign
SPAG1
Duplication
(intron variant)
Primary ciliary dyskinesia 28
GBenign
SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
LOC130000832, SPAG1
(D415fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 28
GPathogenic
SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
(S789fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 28
GPathogenic
LOC130000832, SPAG1
(S450R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
GUncertain significance
SPAG1
Single nucleotide variant
(synonymous variant)
SPAG1-related disorder
+1 more
GLikely benign
LOC130000832, SPAG1
(N444K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
GUncertain significance
SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
LOC130000832, SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
LOC130000832, SPAG1
+1 more
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+2 more
GLikely benign
SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
LOC130000832, SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
(L711F)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
GUncertain significance
SPAG1
(E648K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
+1 more
GBenign/Likely benign
LOC130000832, SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
LOC130000832, SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
LOC130000832, SPAG1
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia 28
GLikely pathogenic
SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
(K267N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
GUncertain significance
LOC130000832, SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
LOC130000832, SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia 28
GPathogenic
SPAG1
(G372E)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
GUncertain significance
LOC130000832, SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
(L171F)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
GUncertain significance
SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
(T181M)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
GUncertain significance
LOC130000832, SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Duplication
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
LOC130000832, SPAG1
(L455R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
GUncertain significance
LOC130000832, SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
LOC130000832, SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Microsatellite
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
(A879fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 28
GUncertain significance
SPAG1
(A251G)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
GUncertain significance
SPAG1
Deletion
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
(K702E)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
GUncertain significance
SPAG1
Deletion
Primary ciliary dyskinesia 28
GUncertain significance
SPAG1
(L816V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
GUncertain significance
LOC130000832, SPAG1
(E394K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
(S504G)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GPathogenic
SPAG1
(G355R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
GUncertain significance
SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
SPAG1
(R493T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
GUncertain significance
SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GUncertain significance
SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
(I42M)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
GUncertain significance
SPAG1
(I897T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
GUncertain significance
LOC130000832, SPAG1
(A424V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
LOC130000832, SPAG1
(K467E)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
GUncertain significance
SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
(P597L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
GUncertain significance
SPAG1
(R281C)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
GUncertain significance
SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 28
GUncertain significance
LOC130000832, SPAG1
(E394G)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
+1 more
GUncertain significance
LOC130000832, SPAG1
(A432fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 28
GPathogenic
LOC130000832, SPAG1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 28
GLikely benign
SPAG1
(N662T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
GUncertain significance
SPAG1
(Y6H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 28
GUncertain significance
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