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Items: 1 to 100 of 644

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130059466, LOC130059467
+1738 more
Copy number gain
See cases
GPathogenic
LOC128772417, LOC128772418
+939 more
Copy number gain
See cases
GPathogenic
ACD, ACSF3
+1429 more
Copy number gain
See cases
GPathogenic
LOC130059153, LOC130059154
+1426 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+1424 more
Copy number gain
See cases
GPathogenic
LOC100129617, LOC100506281
+591 more
Copy number loss
See cases
GPathogenic
HSBP1, HSD17B2
+1041 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+1031 more
Copy number gain
See cases
GPathogenic
LOC400553, LOC654780
+832 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+788 more
Copy number gain
See cases
GPathogenic
LINC01081, LINC01082
+781 more
Copy number gain
See cases
GPathogenic
ADAD2, ARLNC1
+447 more
Copy number loss
See cases
GPathogenic
ACSF3, ADAD2
+719 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+691 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+677 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+670 more
Copy number gain
See cases
GPathogenic
LINC02176, LOC101928392
+211 more
Copy number loss
See cases
GPathogenic
LINC00917, LINC01081
+566 more
Copy number gain
See cases
GPathogenic
ADAD2, ATP2C2
+106 more
Copy number loss
See cases
GPathogenic
ADAD2, ATP2C2
+93 more
Copy number loss
See cases
GPathogenic
LOC130059799, LOC130059800
+531 more
Copy number gain
See cases
GLikely pathogenic
ADAD2, ATP2C2
+203 more
Copy number loss
See cases
GPathogenic
ADAD2, CDH13
+36 more
Copy number gain
See cases
GUncertain significance
ADAD2, ATP2C2
+55 more
Copy number loss
See cases
GUncertain significance
ADAD2, ATP2C2
+80 more
Copy number gain
See cases
GUncertain significance
ADAD2, ATP2C2
+227 more
Copy number loss
See cases
GPathogenic
ACSF3, ADAD2
+534 more
Copy number gain
See cases
GLikely pathogenic
ADAD2, ATP2C2
+20 more
Copy number gain
See cases
GBenign
DNAAF1, HSDL1
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAAF1, HSDL1
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
DNAAF1, HSDL1
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
DNAAF1, LOC130059566
Single nucleotide variant
not provided
GLikely benign
DNAAF1, LOC130059566
Single nucleotide variant
not provided
GLikely benign
DNAAF1, LOC130059566
Single nucleotide variant
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAAF1, LOC130059566
Single nucleotide variant
Primary ciliary dyskinesia
GUncertain significance
DNAAF1, LOC130059566
Single nucleotide variant
Primary ciliary dyskinesia
GUncertain significance
DNAAF1, LOC130059566
Single nucleotide variant
(5 prime UTR variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1, LOC130059566
Single nucleotide variant
(5 prime UTR variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1, LOC130059566
Duplication
(5 prime UTR variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
Single nucleotide variant
(5 prime UTR variant)
Primary ciliary dyskinesia 13
GBenign
DNAAF1
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
DNAAF1
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DNAAF1
(H2N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(P3S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNAAF1
(P5A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
DNAAF1
(T10I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNAAF1
(G11fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia
GPathogenic
DNAAF1
(G11A)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
(L16V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(Q20*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
GPathogenic
DNAAF1
(P22L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
(G23D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNAAF1
(E25Q)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(A28V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNAAF1
(H31Q)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(A34T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
(R36P)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
(G37E)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(G38S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
DNAAF1
(G38A)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
(C39R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GConflicting classifications of pathogenicity
DNAAF1
(K40N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
Deletion
(splice acceptor variant +1 more)
Primary ciliary dyskinesia 13
GPathogenic
DNAAF1
Deletion
Primary ciliary dyskinesia
GPathogenic
DNAAF1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
(K47N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
(E48G)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(I49fs)
Microsatellite
(frameshift variant)
Primary ciliary dyskinesia
GPathogenic
DNAAF1
(C50G)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(C50Y)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
(G52S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(G52D)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(D55E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNAAF1
(Y58D)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(S60T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(Q61E)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
(Q61H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(Q64*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
GPathogenic
DNAAF1
(Q64R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(Q64H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(S65N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNAAF1
(G66C)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(G69fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia
GPathogenic
DNAAF1
(G72S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(H73L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
(A75T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
+1 more
GUncertain significance
DNAAF1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
DNAAF1
(G85V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
Single nucleotide variant
(intron variant)
not provided
GBenign
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