U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 1807

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM19, ADAMTS2
+1166 more
Copy number gain
See cases
GPathogenic
ADAM19, ADAMTS2
+863 more
Copy number gain
See cases
GPathogenic
ADAMTS2, ARL10
+676 more
Copy number gain
See cases
GPathogenic
LOC129995246, LOC129995247
+622 more
Copy number gain
See cases
GPathogenic
LOC129995359, LOC129995360
+386 more
Copy number loss
See cases
GPathogenic
ADAMTS2, ARL10
+292 more
Copy number gain
See cases
GPathogenic
ADAMTS2, B4GALT7
+325 more
Copy number loss
See cases
GPathogenic
ADAMTS2, BTNL3
+207 more
Copy number gain
See cases
GLikely pathogenic
ADAMTS2, BTNL3
+203 more
Copy number gain
See cases
GUncertain significance
ADAMTS2, GRM6
+20 more
Copy number gain
See cases
GLikely benign
ADAMTS2, GRM6
+14 more
Copy number gain
See cases
GLikely benign
ADAMTS2
Indel
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GBenign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GBenign
ADAMTS2
Microsatellite
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GBenign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GBenign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GBenign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GBenign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GBenign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GBenign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GBenign
ADAMTS2
Deletion
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GBenign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GBenign
ADAMTS2
Duplication
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Deletion
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GBenign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GBenign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GBenign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GBenign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GBenign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GBenign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GBenign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
+1 more
GBenign
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
(G1209R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, dermatosparaxis type
+1 more
GUncertain significance
ADAMTS2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
+1 more
GLikely benign
ADAMTS2
(K1205fs)
Microsatellite
(frameshift variant)
not provided
GUncertain significance
ADAMTS2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
(R1203Q)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
(R1203W)
Single nucleotide variant
(missense variant)
ADAMTS2-related disorder
+1 more
GConflicting classifications of pathogenicity
ADAMTS2
(M1202I)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
(M1202L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS2
(E1201D)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
(L1198F)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
Format
Items per page
Sort by
Choose Destination