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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC106780800, CYP21A2
+1 more
(Q319* +2 more)
Single nucleotide variant
(nonsense)
CYP21A2-related condition
+3 more
GPathogenic
CYP21A2, LOC106780800
+1 more
(R480L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC106780803, TNXB
(G4050S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TNXB
(E2729G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
TNXB
(R976H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
TNXB
(V420A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
TNXB
(V71L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+3 more
GUncertain significance
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