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Links from MedGen

Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NANS, TRIM14
(I223T)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, Genevieve type
GUncertain significance
NANS, TRIM14
(W245*)
Single nucleotide variant
(nonsense)
Spondyloepimetaphyseal dysplasia, Genevieve type
GLikely pathogenic
NANS, TRIM14
(E258*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
NANS, TRIM14
(T313A)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, Genevieve type
GUncertain significance
NANS, TRIM14
(Y203H)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, Genevieve type
GLikely pathogenic
NANS, TRIM14
Single nucleotide variant
(intron variant)
Spondyloepimetaphyseal dysplasia, Genevieve type
GPathogenic
NANS, TRIM14
(R69fs)
Deletion
(frameshift variant)
Spondyloepimetaphyseal dysplasia, Genevieve type
GLikely pathogenic
NANS, TRIM14
(M159R)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, Genevieve type
GLikely pathogenic
NANS, TRIM14
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia, Genevieve type
+1 more
GBenign
NANS, TRIM14
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia, Genevieve type
+1 more
GBenign
LOC130002203, NANS
+1 more
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
NANS, TRIM14
(R237C)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, Genevieve type
GPathogenic
NANS, TRIM14
(Y188H)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, Genevieve type
GPathogenic
NANS, TRIM14
Duplication
(inframe_insertion)
not provided
GUncertain significance
NANS, TRIM14
(G133V)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia, Genevieve type
GPathogenic
NANS, TRIM14
(R151H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
NANS, TRIM14
Single nucleotide variant
(splice donor variant)
Spondyloepimetaphyseal dysplasia, Genevieve type
GPathogenic
NANS, TRIM14
(K131fs)
Duplication
(frameshift variant)
Spondyloepimetaphyseal dysplasia, Genevieve type
GPathogenic
TRIM14, NANS
Indel
(intron variant)
Spondyloepimetaphyseal dysplasia, Genevieve type
GPathogenic
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