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Links from MedGen

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AEBP1
(P274fs)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome, classic-like, 2
GLikely pathogenic
AEBP1
(R65Q)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic-like, 2
GUncertain significance
AEBP1
(N706I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AEBP1
(P728L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic-like, 2
+1 more
GUncertain significance
AEBP1
(E381Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AEBP1
Duplication
(intron variant)
not provided
+1 more
GBenign
AEBP1
(P273T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic-like, 2
+1 more
GBenign
AEBP1
(K1133E)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic-like, 2
+1 more
GBenign
AEBP1
Duplication
(intron variant)
Ehlers-Danlos syndrome, classic-like, 2
+1 more
GBenign
AEBP1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic-like, 2
+1 more
GBenign
AEBP1
(E1128D)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic-like, 2
GUncertain significance
AEBP1
(W356*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, classic-like, 2
GPathogenic
AEBP1
(Y951*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, classic-like, 2
GPathogenic
AEBP1
(Y306*)
Duplication
(nonsense)
Ehlers-Danlos syndrome, classic-like, 2
GPathogenic
AEBP1
(R440fs)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome, classic-like, 2
GPathogenic
AEBP1
(N490fs)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome, classic-like, 2
GPathogenic
AEBP1
(C581*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, classic-like, 2
+1 more
GPathogenic/Likely pathogenic
AEBP1
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
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