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Links from MedGen

Items: 1 to 100 of 877

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAH5
(V3399A)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 3
GUncertain significance
DNAH5
(A1259fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 3
GUncertain significance
DNAH5
(R1805C)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 3
GUncertain significance
DNAH5
(I1092T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 3
GUncertain significance
NFKB1
(C74F +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 3
GPathogenic
DNAH5
(Y4165H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 3
GPathogenic
MCIDAS
(I149T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 3
GPathogenic
GAS2L2
(N70D)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 3
GPathogenic
MPEG1
(P325S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 3
GPathogenic
CCDC40
(Q323*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 3
GPathogenic
DNAH5
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 3
GPathogenic
DNAH5
(K1753*)
Duplication
(nonsense)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(P2691L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 3
GUncertain significance
DNAH5
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAH5
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 3
GUncertain significance
DNAH5
(I3669L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 3
GUncertain significance
DNAH5
(A1068S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 3
GUncertain significance
DNAH5
(A2969G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNAH5
(S927L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 3
GUncertain significance
DNAH5
(C841fs)
Microsatellite
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(Q451fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(A311fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 3
GPathogenic
DNAH5
(Q2718R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 3
GUncertain significance
DNAH5
(R529Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
BACH2
(P512T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH5
(A155V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 3
+1 more
GConflicting classifications of pathogenicity
DNAH5
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 3
+1 more
GConflicting classifications of pathogenicity
DNAH5
(R761S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 3
GUncertain significance
DNAH5
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 3
GUncertain significance
DNAH5
(R2017G)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 3
GUncertain significance
DNAH5
(E957K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DNAH5
(T2544M)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAH5
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 3
+1 more
GConflicting classifications of pathogenicity
DNAH5
(A4025fs)
Insertion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(I2455fs)
Insertion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(G471*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
Insertion
(nonsense)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(W1788fs)
Insertion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(K510fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(W794*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(L1055fs)
Insertion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(Q1550*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
+1 more
GPathogenic/Likely pathogenic
DNAH5, LOC126807318
(G1641fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(R1542fs)
Insertion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(A435fs)
Insertion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(Q1267*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(K3256*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(K2414*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(Q3589fs)
Indel
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(L1712fs)
Indel
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(W2667*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5, LOC126807318
(W1632*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(A1012fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(S1000fs)
Insertion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(T1384fs)
Microsatellite
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(I1935fs)
Insertion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(Q4300fs)
Indel
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(E730*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(G3591*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(L98fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(I981fs)
Indel
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(E2887*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(S1435*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(K1515fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(V2161fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(F462fs)
Indel
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(D1951fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(E1554fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5, LOC126807318
(K1605fs)
Indel
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(L3207*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(L1572fs)
Insertion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(R3953*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(G584fs)
Insertion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(Q1450fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(Q1340*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(E3735*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(M3320fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(F4217fs)
Indel
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(L50fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
Insertion
(nonsense)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5, LOC126807318
(S1616fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(E3230fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(F4374fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(V2454fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(D2434fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(L234fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(R4127fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(V1316fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(E3735fs)
Indel
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(E1820*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5, LOC126807318
(V1612fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(G4160*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(L1284fs)
Insertion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(E1294*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(T2309fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(Q197fs)
Insertion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(Q4100*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 3
GLikely pathogenic
DNAH5
(G4347fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 3
GLikely pathogenic
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