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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNXB
(Q844R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 3
Gnot provided
COL3A1
(S1154R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NOTCH1
(T232N)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 5
+1 more
GConflicting classifications of pathogenicity
TNXB
(D2025V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
COL3A1
(Q1366*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, type 4
+1 more
GLikely pathogenic
COL3A1
(K1273R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 3
+3 more
GConflicting classifications of pathogenicity
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