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Links from MedGen

Items: 1 to 100 of 434

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
(A129E)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
(Q155H)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GBenign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
(Q54H)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(R310S)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(G316fs)
Deletion
(frameshift variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
Inversion
(splice acceptor variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely pathogenic
CHST3
(G144D)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely pathogenic
CHST3
(D326fs)
Duplication
(frameshift variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GPathogenic
CHST3
(F282Y)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
(A106T)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
(V34I)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
Duplication
(inframe_insertion)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
Single nucleotide variant
(intron variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
(M1T)
Single nucleotide variant
(missense variant +1 more)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(G177A)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(G149S)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(A129V)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(L99S)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CHST3
(D13N)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(P123L)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
(N157D)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
(P126L)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(R12W)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(D199E)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(R132Q)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
(A456E)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(C264Y)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(R221C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
CHST3
(R310P)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(E346K)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(Q402E)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
(D326N)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
(A389T)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
(S145F)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(L286fs)
Deletion
(frameshift variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GPathogenic
CHST3
(R301C)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(L28*)
Single nucleotide variant
(nonsense)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GPathogenic
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
(L90F)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
(A127fs)
Duplication
(frameshift variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GPathogenic
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
(S422P)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
(A271V)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(E384G)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
(V233I)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(E169K)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(D293Y)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
Duplication
(nonsense +1 more)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GPathogenic
CHST3
(G474S)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(V103M)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(A179T)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(H205Y)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(G156D)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(E108K)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
(V148L)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GLikely benign
CHST3
(Q194H)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
GUncertain significance
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