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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AEBP1
(V105A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AEBP1
(P186H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AEBP1
(E219fs)
Deletion
(frameshift variant)
not provided
GPathogenic/Likely pathogenic
AEBP1
(F247L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AEBP1
(R251W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AEBP1
(E334D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AEBP1
(E352del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
AEBP1
(W356R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AEBP1
(S392L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AEBP1
(D397N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AEBP1
(V457I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AEBP1
(P514L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AEBP1
(R521H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AEBP1
(R534C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AEBP1
(C581*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, classic-like, 2
+1 more
GPathogenic/Likely pathogenic
AEBP1
(I662F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AEBP1
(P919L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AEBP1
(N999Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AEBP1
(Q1015L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AEBP1
(L1070F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AEBP1
(E1079K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AEBP1
Duplication
(inframe insertion)
not provided
GUncertain significance
AEBP1
(E1136K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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