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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SHOX
Single nucleotide variant
(intron variant)
not specified
GBenign
SHOX
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SHOX
Single nucleotide variant
(5 prime UTR variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SHOX
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+5 more
GBenign/Likely benign
SHOX
(K30del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GConflicting classifications of pathogenicity
SHOX
(K29T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SHOX
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
SHOX
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
LOC107652445, SHOX
(R121P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC107652445, SHOX
(M146T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC107652445, SHOX
(R147H)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
SHOX
(R173C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
SHOX
(K181N)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SHOX
(A193T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
SHOX
(R195*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
SHOX
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SHOX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
SHOX
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
SHOX
(A277T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SHOX
Single nucleotide variant
(synonymous variant +1 more)
not specified
GBenign/Likely benign
SHOX
Single nucleotide variant
(synonymous variant +1 more)
Connective tissue disorder
+2 more
GBenign/Likely benign
SHOX
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
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