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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHST14, LOC130056851
(A25D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHST14, LOC130056851
(P42R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHST14, LOC130056851
(A48V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
CHST14, LOC130056851
Deletion
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
CHST14
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
CHST14
(G80D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
CHST14
(Q133P)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+2 more
GUncertain significance
CHST14
(R164Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHST14
(F190fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CHST14
(Y266H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CHST14
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CHST14
(R314Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CHST14
(P316S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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