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Links from MedGen

Items: 1 to 100 of 166

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
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
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
GLikely benign
CHST14, LOC130056851
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
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
GLikely benign
CHST14
(Q106fs)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome, musculocontractural type
GPathogenic
CHST14
(R345fs)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14, LOC130056851
(R29G)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14
(E262fs)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome, musculocontractural type
GPathogenic
CHST14
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
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
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
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
GLikely benign
CHST14
(D128H)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14
(R179H)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
+1 more
GLikely benign
CHST14
(A100V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
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
+1 more
GLikely benign
CHST14
(L210P)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
GLikely benign
CHST14
(H339R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CHST14, LOC130056851
(A52V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14, LOC130056851
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CHST14
(K226fs)
Indel
(frameshift variant)
Ehlers-Danlos syndrome, musculocontractural type
GPathogenic
CHST14
(M68V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14, LOC130056851
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
GLikely benign
CHST14
(W312L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14, LOC130056851
(L22P)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14, LOC130056851
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
+1 more
GLikely benign
CHST14
(S335I)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14
(K89fs)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome, musculocontractural type
GPathogenic
CHST14
(W162*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, musculocontractural type
GPathogenic
CHST14
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
LOC130056851, CHST14
(G35A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CHST14
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
+1 more
GLikely benign
CHST14, LOC130056851
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
+1 more
GLikely benign
CHST14
(V143I)
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
+1 more
GLikely benign
CHST14, LOC130056851
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, LOC130056851
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
GLikely benign
CHST14
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GBenign/Likely benign
CHST14
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
CHST14, LOC130056851
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
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, LOC130056851
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
+1 more
GLikely benign
CHST14, LOC130056851
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
GLikely benign
CHST14
(K167N)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14
(R134Q)
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
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
CHST14
(K156R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
+1 more
GUncertain significance
CHST14
(A82G)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14
(A373S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CHST14
(V291M)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
+1 more
GLikely benign
CHST14
(G255R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14, LOC130056851
(T7N)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
+2 more
GUncertain significance
CHST14
(G98E)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
+1 more
GUncertain significance
CHST14
(Q308K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CHST14
(E311D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
CHST14
(E214D)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14
Duplication
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14
(R109W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CHST14
(A326V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14
(N307D)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
+1 more
GUncertain significance
CHST14
(Q235R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14
(L150V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14
Duplication
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14
(R231Q)
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
(E229G)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
+1 more
GUncertain significance
CHST14, LOC130056851
(A15P)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
+1 more
GUncertain significance
CHST14, LOC130056851
(P3L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CHST14
(R179P)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
CHST14, LOC130056851
(S53fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CHST14
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GBenign/Likely 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
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
GLikely benign
CHST14
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
+1 more
GLikely benign
LOC130056851, CHST14
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
GLikely benign
CHST14, LOC130056851
(R20W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
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
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, musculocontractural type
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
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, LOC130056851
(L58fs)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome, musculocontractural type
GPathogenic
CHST14
(L95F)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, musculocontractural type
GUncertain significance
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