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Items: 1 to 100 of 465

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806176, LOC126806177
+1047 more
Copy number gain
See cases
GPathogenic
ABHD1, ACP1
+893 more
Copy number gain
See cases
GPathogenic
LOC129933242, LOC129933243
+1631 more
Copy number gain
See cases
GPathogenic
ABCG5, ABCG8
+1400 more
Copy number gain
See cases
GPathogenic
LOC129934199, LOC129934200
+2457 more
Copy number gain
See cases
GBenign
ABHD1, ADCY3
+321 more
Copy number loss
See cases
GPathogenic
LOC129933291, LOC129933292
+142 more
Copy number loss
See cases
GUncertain significance
ABHD1, ADGRF3
+99 more
Copy number gain
See cases
GUncertain significance
ADGRF3, DRC1
+4 more
Copy number loss
See cases
GPathogenic
DRC1, LOC129933333
Deletion
Primary ciliary dyskinesia 21
GPathogenic
DRC1
Single nucleotide variant
not provided
GBenign
DRC1
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
DRC1, LOC129933333
Duplication
Primary ciliary dyskinesia
GUncertain significance
DRC1
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
DRC1
(N2I)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
(P3S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DRC1
(P4S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DRC1
(G5E)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DRC1
(A9V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DRC1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 21
+2 more
GBenign/Likely benign
DRC1
(N13K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
(E16K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
(S19F)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DRC1
(A24E)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
(P25R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DRC1
(S26W)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DRC1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DRC1
(Q33R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely benign
DRC1
Duplication
(inframe_insertion)
Primary ciliary dyskinesia
GUncertain significance
DRC1
(Q37fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 21
+2 more
GPathogenic/Likely pathogenic
DRC1
(R39G)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
(R39P)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 21
GUncertain significance
DRC1
(A45V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
(R46L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
(A49S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DRC1
(R52L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DRC1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DRC1
Single nucleotide variant
(intron variant)
not provided
GBenign
DRC1
Deletion
(splice acceptor variant +1 more)
Kartagener syndrome
GLikely pathogenic
DRC1
Single nucleotide variant
(intron variant)
not provided
GBenign
DRC1
Microsatellite
(intron variant)
not provided
GBenign
DRC1
Microsatellite
(intron variant)
not provided
GBenign
DRC1
Microsatellite
(intron variant)
not provided
GBenign
DRC1
Microsatellite
(intron variant)
not provided
GBenign
DRC1
Microsatellite
(intron variant)
not provided
GBenign
DRC1
Single nucleotide variant
(intron variant)
not provided
GBenign
DRC1
Single nucleotide variant
(intron variant)
not provided
GBenign
DRC1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DRC1
(E57Q)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
(Y58H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
DRC1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DRC1
(D60N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
(E64G)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely benign
DRC1
(S72T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DRC1
(Y73C)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
(K74Q)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
(S79R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
(R80*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DRC1
(R80Q)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DRC1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DRC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DRC1
Single nucleotide variant
(intron variant)
not provided
GBenign
DRC1
Deletion
(intron variant)
not provided
GBenign
DRC1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DRC1
Duplication
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DRC1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DRC1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DRC1
(I103N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DRC1
(E105K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
(H107R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DRC1
(R117fs)
Duplication
(frameshift variant)
DRC1-related condition
+1 more
GPathogenic/Likely pathogenic
DRC1
(Q118*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 21
+3 more
GConflicting classifications of pathogenicity
DRC1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DRC1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DRC1
Duplication
(intron variant)
not provided
GBenign
DRC1
Deletion
(intron variant)
not provided
GLikely benign
DRC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DRC1
Single nucleotide variant
(intron variant)
not provided
GBenign
DRC1
Single nucleotide variant
(intron variant)
not provided
GBenign
DRC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DRC1
Single nucleotide variant
(intron variant)
not provided
GBenign
DRC1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DRC1
Single nucleotide variant
(splice acceptor variant)
Primary ciliary dyskinesia
GLikely pathogenic
DRC1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DRC1
(V127F)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
(Q131*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
GPathogenic
DRC1
(D132E)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DRC1
(I137V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DRC1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DRC1
(K140Q)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
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