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Links from MedGen

Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SHOX
(S269fs)
Deletion
(frameshift variant +1 more)
Leri-Weill dyschondrosteosis
GPathogenic
SHOX
Microsatellite
(inframe_insertion +1 more)
Leri-Weill dyschondrosteosis
GUncertain significance
SHOX
Microsatellite
(inframe_deletion +1 more)
Leri-Weill dyschondrosteosis
GPathogenic
SHOX
(A224T)
Single nucleotide variant
(missense variant +1 more)
Leri-Weill dyschondrosteosis
GPathogenic
LOC107652445, SHOX
(G155R)
Single nucleotide variant
(missense variant)
Leri-Weill dyschondrosteosis
GPathogenic
LOC107652445, SHOX
(Q112P)
Single nucleotide variant
(missense variant)
Leri-Weill dyschondrosteosis
GPathogenic
LOC107652445, SHOX
(Q112*)
Single nucleotide variant
(nonsense)
Leri-Weill dyschondrosteosis
GPathogenic
SHOX
Microsatellite
(inframe_insertion)
Leri-Weill dyschondrosteosis
GUncertain significance
SHOX
Single nucleotide variant
(intron variant)
Leri-Weill dyschondrosteosis
+1 more
GConflicting classifications of pathogenicity
LOC107652445, SHOX
(G155W)
Single nucleotide variant
(missense variant)
Leri-Weill dyschondrosteosis
GUncertain significance
SHOX
(E84*)
Single nucleotide variant
(nonsense)
Leri-Weill dyschondrosteosis
GLikely pathogenic
SHOX
(R173H)
Single nucleotide variant
(missense variant)
Leri-Weill dyschondrosteosis
+1 more
GPathogenic
SHOX
Single nucleotide variant
(5 prime UTR variant)
SHOX-related short stature
+1 more
GPathogenic/Likely pathogenic
SHOX
(P243fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
LOC107652445, SHOX
(R118fs)
Microsatellite
(frameshift variant)
Leri-Weill dyschondrosteosis
+1 more
GPathogenic
CNE7, LOC108251802
Deletion
Leri-Weill dyschondrosteosis
GUncertain significance
SHOX
Single nucleotide variant
(intron variant)
Leri-Weill dyschondrosteosis
+3 more
GBenign/Likely benign
SHOX
Deletion
SHOX-related short stature
+1 more
GPathogenic
SHOX
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+5 more
GBenign/Likely benign
SHOX
(A170D)
Single nucleotide variant
(missense variant)
Leri-Weill dyschondrosteosis
GPathogenic
SHOX
(A170P)
Single nucleotide variant
(missense variant)
Langer mesomelic dysplasia syndrome
+1 more
GPathogenic
SHOX
Deletion
Leri-Weill dyschondrosteosis
+1 more
GPathogenic
SHOX
Single nucleotide variant
(stop lost +1 more)
Leri-Weill dyschondrosteosis
GUncertain significance
SHOX, LOC107652445
(E102*)
Single nucleotide variant
(nonsense)
Leri-Weill dyschondrosteosis
GPathogenic
SHOX
(P244fs)
Duplication
(frameshift variant +1 more)
Leri-Weill dyschondrosteosis
GPathogenic
SHOX
(R168W)
Single nucleotide variant
(missense variant)
Langer mesomelic dysplasia syndrome
+1 more
GPathogenic
SHOX
(R173C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
SHOX
(E61fs)
Deletion
(frameshift variant)
Leri-Weill dyschondrosteosis
GPathogenic
LOC107652445, SHOX
(R153L)
Single nucleotide variant
(missense variant)
Leri-Weill dyschondrosteosis
GPathogenic
LOC107652445, SHOX
(L132V)
Single nucleotide variant
(missense variant)
Leri-Weill dyschondrosteosis
GPathogenic
SHOX
Deletion
Leri-Weill dyschondrosteosis
+1 more
GPathogenic
SHOX
(Y199*)
Single nucleotide variant
(nonsense)
Leri-Weill dyschondrosteosis
GPathogenic
SHOX
(R195*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
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