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Items: 51

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC132088675, LOC132088682
+1585 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ALDH9A1
+371 more
Copy number loss
See cases
GPathogenic
ATP1A2, ATP1A4
+18 more
Copy number gain
See cases
GBenign
DCAF8
(S576F)
Single nucleotide variant
(missense variant +1 more)
Giant axonal neuropathy 2
GUncertain significance
DCAF8
(S576P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
DCAF8
(R562*)
Single nucleotide variant
(nonsense +1 more)
not specified
GUncertain significance
DCAF8
Single nucleotide variant
(intron variant)
not specified
GLikely benign
DCAF8
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DCAF8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DCAF8
(N367S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DCAF8
(N343S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DCAF8
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
DCAF8
(S320L)
Single nucleotide variant
(missense variant +1 more)
DCAF8-related condition
GUncertain significance
DCAF8
(R317C)
Single nucleotide variant
(missense variant +1 more)
Giant axonal neuropathy 2
GPathogenic
DCAF8
Single nucleotide variant
(synonymous variant +1 more)
Giant axonal neuropathy 2
+2 more
GBenign/Likely benign
DCAF8
(T270I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DCAF8
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
DCAF8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DCAF8
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
DCAF8
(R224W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DCAF8
Single nucleotide variant
(synonymous variant +1 more)
DCAF8-related condition
+1 more
GLikely benign
DCAF8
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
DCAF8
(H187N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DCAF8
(R184H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DCAF8
Single nucleotide variant
(synonymous variant +1 more)
DCAF8-related condition
GLikely benign
DCAF8
(R151C)
Single nucleotide variant
(missense variant +1 more)
Giant axonal neuropathy 2
GUncertain significance
DCAF8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DCAF8
(A146V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
DCAF8
(S142L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DCAF8
(R134W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DCAF8
(R125C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
DCAF8
(R122W)
Single nucleotide variant
(missense variant +1 more)
Giant axonal neuropathy 2
GUncertain significance
DCAF8
(R120H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DCAF8
(R117C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
DCAF8
(R116H)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
DCAF8
Microsatellite
(inframe_deletion +1 more)
not provided
GBenign
DCAF8
Microsatellite
(inframe_deletion +1 more)
not provided
GBenign
DCAF8
(V95I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DCAF8
(G52R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DCAF8
(T51I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DCAF8
(S47R)
Single nucleotide variant
(missense variant +1 more)
See cases
GUncertain significance
ACKR1, ADAMTS4
+107 more
Copy number loss
not provided
GLikely pathogenic
ATP1A2, ATP1A4
+27 more
Copy number gain
not provided
GUncertain significance
TAGLN2, TOMM40L
+90 more
Duplication
Autoimmune interstitial lung disease-arthritis syndrome
GUncertain significance
ATP1A2, COPA
+7 more
Duplication
Familial hemiplegic migraine
+1 more
GUncertain significance
NEK7, OR2L2
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
ACKR1, ADAMTS4
+132 more
Copy number loss
not provided
GPathogenic
ATP1A2, ATP1A4
+31 more
Copy number gain
not provided
GUncertain significance
PADI1, PADI2
+2014 more
Copy number gain
See cases
GPathogenic
NID1, NIPAL3
+2014 more
Copy number gain
See cases
GPathogenic
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