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Links from MedGen

Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZMYND10
(Q98K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 22
Gnot provided
ZMYND10
Single nucleotide variant
(splice acceptor variant)
Primary ciliary dyskinesia 22
GLikely pathogenic
ZMYND10
Deletion
(splice donor variant)
Primary ciliary dyskinesia 22
GLikely pathogenic
ZMYND10
Single nucleotide variant
(splice acceptor variant)
Primary ciliary dyskinesia 22
GUncertain significance
ZMYND10
(Q164*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
+1 more
GPathogenic
ZMYND10
(G255R +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 22
+2 more
GConflicting classifications of pathogenicity
ZMYND10
(S245fs +1 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 22
GPathogenic
ZMYND10
(E79K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
ZMYND10
(R391W +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 22
+1 more
GUncertain significance
ZMYND10
(H213Y)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 22
+2 more
GUncertain significance
ZMYND10
(A77T)
Single nucleotide variant
(missense variant)
ZMYND10-related condition
+2 more
GConflicting classifications of pathogenicity
ZMYND10
(Q358R +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GBenign/Likely benign
ZMYND10
(R340Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
ZMYND10
(L266P +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GPathogenic
ZMYND10
(V198fs)
Microsatellite
(frameshift variant)
Primary ciliary dyskinesia 22
GPathogenic
ZMYND10
(Q323* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 22
GPathogenic
ZMYND10
(S163fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 22
GPathogenic
ZMYND10
(F101fs)
Deletion
(frameshift variant)
ZMYND10-related condition
+1 more
GPathogenic
ZMYND10
(V16G)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 22
+2 more
GPathogenic
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