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Links from MedGen

Items: 1 to 100 of 18498

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
CCDC39
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAH5
(L978V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
(C4071fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia
GPathogenic
DNAI1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
DNAH11
(R4007T +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
(Q1298E)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GBenign
DNAH5
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAH5
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAH8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
ZMYND10
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
(P629fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia
GPathogenic
DNAH11
(F1520C +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
RPGR
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia
GLikely benign
DNAH11
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAH5
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
(A2497V +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAH5
(T4469A)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAH5
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GBenign
DNAH11
(D1816E +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAH11
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
(M2272L +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11, LOC126859961
(N979S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GBenign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
(I3485V +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely benign
DNAH5
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
(A4462fs)
Duplication
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GPathogenic
DNAI1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAH5
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
CCDC39
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
RPGR
Duplication
(inframe_insertion +1 more)
Primary ciliary dyskinesia
GUncertain significance
DRC1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
(H158R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely benign
DNAI2
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
GLikely benign
DNAH11
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
CCDC39
(Q221fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia
GPathogenic
DNAH5
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
RPGR
(E935K)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
DNAH11
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAH5
(A3820fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia
GPathogenic
DNAI1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GUncertain significance
DNAH11
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
RSPH1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
MCIDAS
(G90W)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAH8, DNAH8-AS1
(D3883H +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAH5
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAH5
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
(A3162G +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GBenign
DNAH11
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAI1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
(P1631A +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely benign
DNAH5
Deletion
(intron variant)
Primary ciliary dyskinesia
GBenign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAH5
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAH5
(I2812V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
(L272M)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GBenign
DNAH5
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAH5
(A1740S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely benign
DNAH5
(E187K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11, LOC126859961
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
ODAD1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAI2
Deletion
(intron variant)
Primary ciliary dyskinesia
GLikely benign
CCDC39
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAH5
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
(V2876A +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GBenign
DNAH11
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GBenign
DNAH11
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
(K2753Q +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GBenign
DNAH8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
RPGR
(E870G)
Single nucleotide variant
(intron variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
DNAH5
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAH8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAH5, LOC126807318
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAH5
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAH8, DNAH8-AS1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF2, LOC130055542
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
GLikely benign
DNAH11, CDCA7L
Microsatellite
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
DNAH11
(A3319T +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GBenign
DNAAF5, PRKAR1B
(A137V)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
GUncertain significance
DNAH11
Deletion
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAH11
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAH5
Duplication
(intron variant)
Primary ciliary dyskinesia
GBenign
DNAH11
(A25T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GBenign
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