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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTS2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome
+2 more
GConflicting classifications of pathogenicity
ADAMTS2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ADAMTS2
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
ADAMTS2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
ADAMTS2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
ADAMTS2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
ADAMTS2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
ADAMTS2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ADAMTS2
(R214W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADAMTS2
(R87L)
Single nucleotide variant
(missense variant)
ADAMTS2-related condition
+3 more
GConflicting classifications of pathogenicity
ADAMTS2
(P32S)
Single nucleotide variant
(missense variant)
ADAMTS2-related condition
+2 more
GConflicting classifications of pathogenicity
ADAMTS2
Duplication
(inframe_insertion)
Ehlers-Danlos syndrome
+3 more
GConflicting classifications of pathogenicity
ADAMTS2
Microsatellite
(inframe_insertion)
Ehlers-Danlos syndrome, dermatosparaxis type
+2 more
GBenign
ADAMTS2
(L23P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
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