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Links from MedGen

Items: 1 to 100 of 1509

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
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
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Deletion
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
(P541L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
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
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Duplication
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GBenign
ADAMTS2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Deletion
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GBenign
ADAMTS2
Deletion
(splice acceptor variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely pathogenic
ADAMTS2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
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
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
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
Deletion
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Deletion
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
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
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
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
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
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
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
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
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
(Y157fs)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GPathogenic
ADAMTS2
(Y682fs)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GPathogenic
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
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
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
(D535fs)
Duplication
(frameshift variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GPathogenic
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
(L18fs)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GPathogenic
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
(C659*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, dermatosparaxis type
GPathogenic
ADAMTS2
(W923*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, dermatosparaxis type
GPathogenic
ADAMTS2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
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
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GLikely benign
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