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Items: 1 to 100 of 304

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHST14
Single nucleotide variant
not provided
GBenign
CHST14
Single nucleotide variant
not provided
GBenign
CHST14
Single nucleotide variant
not provided
GLikely benign
CHST14, LOC130056850
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
CHST14, LOC130056851
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
CHST14, LOC130056851
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
CHST14, LOC130056851
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CHST14, LOC130056851
(P3L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CHST14, LOC130056851
(R4C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CHST14, LOC130056851
(R4P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CHST14, LOC130056851
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
GLikely benign
CHST14, LOC130056851
(T7N)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
+2 more
GUncertain significance
CHST14, LOC130056851
(P8L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CHST14, LOC130056851
(A11V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14, LOC130056851
(P12S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CHST14, LOC130056851
(N13D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CHST14, LOC130056851
(A15S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CHST14, LOC130056851
(A15P)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
+1 more
GUncertain significance
LOC130056851, CHST14
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
GLikely benign
CHST14, LOC130056851
(E16K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHST14, LOC130056851
(E16D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CHST14, LOC130056851
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
+1 more
GLikely benign
CHST14, LOC130056851
(P17S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CHST14, LOC130056851
(R20W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
CHST14, LOC130056851
(R20P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CHST14, LOC130056851
(A21S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CHST14, LOC130056851
(A21T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type 1
GUncertain significance
CHST14, LOC130056851
(L22P)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14, LOC130056851
(R24L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CHST14, LOC130056851
(A25S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CHST14, LOC130056851
(A25D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHST14, LOC130056851
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
LOC130056851, CHST14
(P26L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14, LOC130056851
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
CHST14, LOC130056851
(G28V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CHST14, LOC130056851
(R29G)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14, LOC130056851
(R29M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CHST14, LOC130056851
(A30T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CHST14, LOC130056851
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
+1 more
GLikely benign
CHST14, LOC130056851
(A32P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CHST14, LOC130056851
(A32V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CHST14, LOC130056851
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
CHST14, LOC130056851
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
GLikely benign
LOC130056851, CHST14
(G35A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
LOC130056851, CHST14
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
CHST14, LOC130056851
(P37Q)
Single nucleotide variant
(missense variant)
CHST14-related disorder
GUncertain significance
CHST14, LOC130056851
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
GLikely benign
CHST14, LOC130056851
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
+1 more
GLikely benign
CHST14, LOC130056851
(P38R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CHST14, LOC130056851
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
GLikely benign
CHST14, LOC130056851
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHST14, LOC130056851
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
GLikely benign
CHST14, LOC130056851
(P42L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CHST14, LOC130056851
(P42R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CHST14, LOC130056851
(S43P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CHST14, LOC130056851
(M44V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14, LOC130056851
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
CHST14, LOC130056851
(L45R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHST14, LOC130056851
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
+1 more
GLikely benign
CHST14, LOC130056851
(M46I)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
+1 more
GUncertain significance
CHST14, LOC130056851
(A48E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
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, LOC130056851
(V49G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CHST14, LOC130056851
(I50F)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14, LOC130056851
(V51M)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14, LOC130056851
(V51L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
+2 more
GLikely benign
CHST14, LOC130056851
(S53fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CHST14, LOC130056851
(A52V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14, LOC130056851
(S53Y)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14, LOC130056851
(S54fs)
Duplication
(frameshift variant)
Ehlers-Danlos syndrome, musculocontractural type
GPathogenic
CHST14, LOC130056851
(L58fs)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome, musculocontractural type
GPathogenic
CHST14, LOC130056851
(L58P)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14, LOC130056851
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHST14, LOC130056851
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
GLikely benign
CHST14
(E61D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CHST14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHST14
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
CHST14
(G63D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHST14
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
CHST14
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
+1 more
GLikely benign
CHST14
(A66T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
CHST14
(M68V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14
(K69*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, musculocontractural type 1
GPathogenic
CHST14
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GBenign/Likely benign
CHST14
(L71P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CHST14
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
GLikely benign
CHST14
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
GLikely benign
CHST14
(P75Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHST14
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
CHST14
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
+1 more
GLikely benign
CHST14
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
GLikely benign
CHST14
(G80D)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
+2 more
GUncertain significance
CHST14
(A82G)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14
(R84S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
+1 more
GUncertain significance
CHST14
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
GLikely benign
CHST14
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
CHST14
(K86N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CHST14
(K89fs)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome, musculocontractural type
GPathogenic
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