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Links from MedGen

Items: 1 to 100 of 267

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAS8
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
(E33* +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia 33
GPathogenic
GAS8
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
(R230S +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
(L200F +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
(G271A +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
(V344L +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(splice acceptor variant)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia 33
GLikely pathogenic
GAS8
(E190D +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8, GAS8-AS1
Duplication
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
Duplication
Primary ciliary dyskinesia 33
GUncertain significance
GAS8, GAS8-AS1
Duplication
Primary ciliary dyskinesia 33
GUncertain significance
GAS8, GAS8-AS1
Duplication
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
Deletion
Primary ciliary dyskinesia 33
GPathogenic
FANCA, MC1R
+45 more
Duplication
Primary ciliary dyskinesia 33
+1 more
GUncertain significance
GAS8
(R53W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
GAS8
(Q104fs +3 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 33
GPathogenic
GAS8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
(R65S +2 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
(L153R +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
GAS8
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
(M1L)
Single nucleotide variant
(5 prime UTR variant +3 more)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
(D156Y +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
(L209V +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
(K239R +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
(T208M +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
(R150W +2 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
(T49I +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
(L226F +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
Single nucleotide variant
(intron variant +1 more)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
(E83K +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
(K49A +1 more)
Indel
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
(A187V +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
(R21Q +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
(L29V +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
(V452M +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary ciliary dyskinesia 33
+1 more
GConflicting classifications of pathogenicity
GAS8
(E163V +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
(S223N +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
(A366V +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
(G254R +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
(K6R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
(K112R +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Deletion
(inframe_deletion +1 more)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
(N111H +2 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
(G336A +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
(R230H +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 33
GLikely benign
GAS8
(R139H +2 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 33
GUncertain significance
GAS8
(D239N +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 33
GUncertain significance
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