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Items: 46

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
ARHGAP30, NECTIN4-AS1
+63 more
Duplication
Gastrointestinal stromal tumor
+1 more
GUncertain significance
ADAMTS4, APOA2
+58 more
Copy number gain
See cases
GUncertain significance
APOA2
Single nucleotide variant
(stop lost)
not provided
GLikely pathogenic
APOA2
(T99I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
APOA2
(A98D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APOA2
Single nucleotide variant
(synonymous variant)
APOA2-related condition
+1 more
GBenign/Likely benign
APOA2
(L83Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
APOA2
Single nucleotide variant
(synonymous variant)
not specified
GBenign
APOA2
Single nucleotide variant
(synonymous variant)
Apolipoprotein A-II deficiency
GUncertain significance
APOA2
(K77Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
APOA2
Single nucleotide variant
(intron variant)
APOA2-related condition
+1 more
GBenign
APOA2
Single nucleotide variant
(intron variant)
not specified
GLikely benign
APOA2
Single nucleotide variant
(splice donor variant)
APOLIPOPROTEIN A-II DEFICIENCY, FAMILIAL, DUE TO APOA-II (HIROSHIMA)
GPathogenic
APOA2
(V41M)
Single nucleotide variant
(missense variant)
Apolipoprotein A-II deficiency
+1 more
GUncertain significance
APOA2
Deletion
(intron variant)
not specified
GBenign
APOA2
Microsatellite
(intron variant)
not specified
GBenign
APOA2
Microsatellite
(intron variant)
not specified
+1 more
GBenign
APOA2
Microsatellite
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
APOA2
Microsatellite
(intron variant)
APOA2-related condition
GLikely benign
APOA2
Microsatellite
(intron variant)
APOA2-related condition
+1 more
GBenign
APOA2
Microsatellite
(intron variant)
APOA2-related condition
+1 more
GBenign
APOA2
Microsatellite
(intron variant)
not specified
GBenign
APOA2
Microsatellite
(intron variant)
not specified
GBenign
APOA2
Microsatellite
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
APOA2
Microsatellite
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
APOA2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
APOA2
Single nucleotide variant
(5 prime UTR variant)
Apolipoprotein A-II deficiency
GUncertain significance
APOA2
Single nucleotide variant
(5 prime UTR variant)
Apolipoprotein A-II deficiency
GUncertain significance
APOA2
Single nucleotide variant
Hypercholesterolemia, familial, 1
GPathogenic
ACKR1, ADAMTS4
+107 more
Copy number loss
not provided
GLikely pathogenic
FCER1G, NDUFS2
+1 more
Duplication
not provided
GUncertain significance
ADAMTS4, ALDH9A1
+62 more
Copy number loss
not specified
GPathogenic
TAGLN2, TOMM40L
+90 more
Duplication
Autoimmune interstitial lung disease-arthritis syndrome
GUncertain significance
ADAMTS4, APOA2
+22 more
Copy number gain
not provided
GLikely pathogenic
NEK7, OR2L2
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
APOA2, ARHGAP30
+24 more
Duplication
Gastrointestinal stromal tumor
+1 more
GUncertain significance
ADAMTS4, APOA2
+17 more
Copy number gain
not provided
GUncertain significance
ADAMTS4, APOA2
+42 more
Copy number gain
not provided
GUncertain significance
ACKR1, ADAMTS4
+132 more
Copy number loss
not provided
GPathogenic
ADAMTS4, APOA2
+11 more
Copy number gain
not provided
GUncertain significance
ADCY10, ALDH9A1
+137 more
Copy number loss
not provided
GPathogenic
PADI1, PADI2
+2014 more
Copy number gain
See cases
GPathogenic
NID1, NIPAL3
+2014 more
Copy number gain
See cases
GPathogenic
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