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Links from MedGen

Items: 1 to 100 of 357

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAH11, LOC126859961
(Q986*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 7
GLikely pathogenic
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 7
GPathogenic
DNAH11
(R2044G +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
GUncertain significance
DNAH11
(P3185fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 7
GLikely pathogenic
DNAH11
(F53fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 7
GLikely pathogenic
DNAH11
(K3996* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 7
GLikely pathogenic
DNAH11
(W3872* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 7
GLikely pathogenic
DNAH11
(H3591Q +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
GUncertain significance
DNAH11
(I4303N +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
GUncertain significance
DNAH11
(L4067R +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
GUncertain significance
DNAH11
(E3146Q +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
GUncertain significance
DNAH11
(Q1674* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
+1 more
GPathogenic/Likely pathogenic
DNAH11
(R1836* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 7
+1 more
GPathogenic
DNAH11
(K1798T +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
GUncertain significance
DNAH11
(L2524F +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
GUncertain significance
DNAH11
(K4257* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 7
GLikely pathogenic
DNAH11
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia 7
GLikely pathogenic
DNAH11
(Q294*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 7
GLikely pathogenic
DNAH11
(V59fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 7
GLikely pathogenic
DNAH11
Indel
Primary ciliary dyskinesia 7
GLikely pathogenic
DNAH11, LOC126859961
(Q1014*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 7
GPathogenic
CDCA7L, DNAH11
Insertion
(3 prime UTR variant +2 more)
Primary ciliary dyskinesia 7
GLikely pathogenic
DNAH11, LOC126859961
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia 7
GLikely pathogenic
DNAH11
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia 7
GUncertain significance
DNAH11
(I3337V +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
+1 more
GConflicting classifications of pathogenicity
DNAH11
(L3793F +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
+1 more
GConflicting classifications of pathogenicity
DNAH11
(E3595K +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
+2 more
GConflicting classifications of pathogenicity
DNAH11
(T1897I +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 7
GUncertain significance
DNAH11
(E3261K +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
GUncertain significance
DNAH11, LOC126859962
(N4352Y +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
+1 more
GConflicting classifications of pathogenicity
DNAH11
(P3264L +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
GUncertain significance
DNAH11
(S1641* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 7
GPathogenic
DNAH11
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia 7
GPathogenic
DNAH11, LOC126859961
Deletion
(splice donor variant)
Primary ciliary dyskinesia 7
GLikely pathogenic
DNAH11
(E1201*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 7
GLikely pathogenic
DNAH11
(A666D)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
+1 more
GConflicting classifications of pathogenicity
DNAH11
(R3888H +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
+1 more
GUncertain significance
DNAH11
(L4124S +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
+1 more
GConflicting classifications of pathogenicity
DNAH11
(Q2667* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 7
+1 more
GPathogenic
DNAH11
(R1304fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 7
+1 more
GPathogenic
DNAH11
(A4022P +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
GLikely pathogenic
DNAH11
(A666T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNAH11
(S4377F +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
GLikely pathogenic
CDCA7L, DNAH11
(K4497fs)
Duplication
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia 7
GLikely pathogenic
DNAH11
(L4135I +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
GUncertain significance
DNAH11
(T4231A +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
+1 more
GConflicting classifications of pathogenicity
DNAH11
(K1515M +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
+1 more
GUncertain significance
DNAH11
(F2214fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 7
GPathogenic
DNAH11
Deletion
(splice acceptor variant +1 more)
Primary ciliary dyskinesia 7
GPathogenic
DNAH11
(T2700M)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
+1 more
GConflicting classifications of pathogenicity
DNAH11
(E975*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 7
+1 more
GPathogenic
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 7
GUncertain significance
DNAH11
(R1264fs)
Microsatellite
(frameshift variant)
Primary ciliary dyskinesia 7
+2 more
GPathogenic/Likely pathogenic
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
+1 more
GLikely benign
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia 7
+1 more
GLikely benign
DNAH11
(T4392M)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
+2 more
GConflicting classifications of pathogenicity
DNAH11
(L2853S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DNAH11
(I1805V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAH11, LOC126859961
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
DNAH11
(R3756C)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
+2 more
GConflicting classifications of pathogenicity
DNAH11
(I258T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
+1 more
GConflicting classifications of pathogenicity
DNAH11
(V3836I)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
+1 more
GConflicting classifications of pathogenicity
DNAH11
(W1749*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 7
+1 more
GPathogenic/Likely pathogenic
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
DNAH11
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia 7
GLikely pathogenic
DNAH11
Single nucleotide variant
(splice acceptor variant)
Primary ciliary dyskinesia 7
GLikely pathogenic
DNAH11, LOC126859961
Single nucleotide variant
(splice acceptor variant)
Primary ciliary dyskinesia 7
GLikely pathogenic
DNAH11
(V127fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 7
GLikely pathogenic
DNAH11
(T3352M)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+2 more
GBenign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 7
+1 more
GBenign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+2 more
GBenign/Likely benign
DNAH11
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 7
+1 more
GBenign
DNAH11
(F3784L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
+1 more
GConflicting classifications of pathogenicity
DNAH11
(S2312P)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
GUncertain significance
DNAH11
(V3681A)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GConflicting classifications of pathogenicity
DNAH11
(I792L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAH11
(P663A)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAH11
Duplication
(inframe_insertion)
Primary ciliary dyskinesia 7
GLikely pathogenic
DNAH11
(V384D)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
GUncertain significance
DNAH11
(H505Y)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAH11
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAH11
(D2937N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAH11
(C1610R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
GUncertain significance
DNAH11, LOC126859961
(Q1075*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
+1 more
GPathogenic
DNAH11
(T4331M)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAH11
(R3845L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
+1 more
GConflicting classifications of pathogenicity
DNAH11
(Q3599E)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
+1 more
GUncertain significance
DNAH11
(P4371L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAH11
(H1843P)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
+1 more
GUncertain significance
DNAH11
(K3152*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 7
GPathogenic
DNAH11
(V2924fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 7
GPathogenic
DNAH11
Single nucleotide variant
(splice acceptor variant)
Primary ciliary dyskinesia 7
GPathogenic
DNAH11
(T4000N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
+1 more
GUncertain significance
CDCA7L, DNAH11
(R4437H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DNAH11
(R2189*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
+1 more
GPathogenic/Likely pathogenic
DNAH11
(E917V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
+1 more
GLikely benign
DNAH11
(V2273I)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
+1 more
GConflicting classifications of pathogenicity
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