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Items: 1 to 100 of 219

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALS2CL, AMIGO3
+379 more
Copy number gain
See cases
GPathogenic
ABHD14A, ABHD14A-ACY1
+329 more
Copy number loss
See cases
GPathogenic
ZMYND10
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
ZMYND10
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
ZMYND10
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
(V431I +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
(E419K +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
(V420A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ZMYND10
(C418* +1 more)
Insertion
(nonsense)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
Single nucleotide variant
(splice acceptor variant)
Primary ciliary dyskinesia 22
GLikely pathogenic
ZMYND10
Single nucleotide variant
(intron variant)
not provided
GBenign
ZMYND10
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
(Y408C +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
(R407P +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
(R399H +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
(R388H +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
(R393G +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
(R388C +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
(R386Q +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
(R391W +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
ZMYND10
(E385K +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
(A388V +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
(R373Q +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
ZMYND10
(R368G +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
(A372V +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
(R369W +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GBenign/Likely benign
ZMYND10
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
(Q361* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
GPathogenic
ZMYND10
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
(Q358R +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 22
+2 more
GBenign/Likely benign
ZMYND10
(K349M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ZMYND10
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
(R343Q +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
(R340Q +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GBenign/Likely benign
ZMYND10
(R335W +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
ZMYND10
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
ZMYND10
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
(P324T +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GBenign/Likely benign
ZMYND10
(Q318fs +1 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 22
GLikely pathogenic
ZMYND10
(Q323* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 22
GPathogenic
ZMYND10
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
(T313A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
ZMYND10
(A310D +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
(A303T +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GUncertain significance
ZMYND10
(A289T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ZMYND10
(R293Q +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
ZMYND10
(R288W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ZMYND10
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ZMYND10
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ZMYND10
(R288Q +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
(R283W +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
(F279L +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
(S283N +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
(R273H +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
(R273C +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
(A277V +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
(P268S +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
(S272N +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
(L270R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ZMYND10
(L266P +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GPathogenic
ZMYND10
(A265V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ZMYND10
(G255R +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GConflicting classifications of pathogenicity
ZMYND10
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
(D254Y +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
(D259N +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
(S245fs +1 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 22
GPathogenic
ZMYND10
(W244* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
GPathogenic
ZMYND10
(R243H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ZMYND10
(R243C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
ZMYND10
(S242G +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
ZMYND10
(G236D +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ZMYND10
(G236S +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
ZMYND10
(Q232* +1 more)
Single nucleotide variant
(nonsense)
ZMYND10-related disorder
+1 more
GPathogenic/Likely pathogenic
ZMYND10
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
(C223Y)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
(R218H)
Single nucleotide variant
(missense variant +1 more)
ZMYND10-related disorder
GLikely benign
ZMYND10
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
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