U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 49

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARSL
Single nucleotide variant
(splice donor variant)
X-linked chondrodysplasia punctata 1
GLikely pathogenic
ARSL
Deletion
(inframe_deletion)
X-linked chondrodysplasia punctata 1
GUncertain significance
ARSL
(A368V +3 more)
Single nucleotide variant
(missense variant)
X-linked chondrodysplasia punctata 1
GUncertain significance
ARSL
(G144R +3 more)
Single nucleotide variant
(missense variant)
X-linked chondrodysplasia punctata 1
GLikely pathogenic
ARSL
(T252A +3 more)
Single nucleotide variant
(missense variant)
X-linked chondrodysplasia punctata 1
GPathogenic
ARSL
(E353* +3 more)
Single nucleotide variant
(nonsense)
X-linked chondrodysplasia punctata 1
GLikely pathogenic
ARSL
Single nucleotide variant
(splice donor variant)
X-linked chondrodysplasia punctata 1
GPathogenic/Likely pathogenic
ARSL
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ARSL
(G263R +3 more)
Single nucleotide variant
(missense variant)
Chondrodysplasia punctata, brachytelephalangic, autosomal
+1 more
GConflicting classifications of pathogenicity
ARSL
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ARSL
Microsatellite
(intron variant)
not provided
+1 more
GBenign
ARSD, ARSL
Deletion
X-linked chondrodysplasia punctata 1
GPathogenic
ARSL
(G19S +3 more)
Single nucleotide variant
(missense variant)
X-linked chondrodysplasia punctata 1
+1 more
GLikely pathogenic
ARSL
(V4M)
Single nucleotide variant
(missense variant +1 more)
X-linked chondrodysplasia punctata 1
+2 more
GBenign
ARSL
(G287V +3 more)
Single nucleotide variant
(missense variant)
X-linked chondrodysplasia punctata 1
GUncertain significance
ARSL
(Y117C +3 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+2 more
GUncertain significance
ARSL
Deletion
Chondrodysplasia punctata, brachytelephalangic, autosomal
+1 more
GPathogenic
ARSL
(V300I +3 more)
Single nucleotide variant
(missense variant)
X-linked chondrodysplasia punctata 1
GUncertain significance
ARSL
Single nucleotide variant
(synonymous variant)
Chondrodysplasia punctata, brachytelephalangic, autosomal
+1 more
GBenign
ARSL
(I174M +3 more)
Single nucleotide variant
(missense variant)
X-linked chondrodysplasia punctata 1
GUncertain significance
ARSL
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ARSL
Deletion
X-linked chondrodysplasia punctata 1
GPathogenic
ARSL
(D413E +3 more)
Single nucleotide variant
(missense variant)
Chondrodysplasia punctata, brachytelephalangic, autosomal
+1 more
GUncertain significance
ARSL
(I565S +3 more)
Single nucleotide variant
(missense variant)
Chondrodysplasia punctata, brachytelephalangic, autosomal
+1 more
GConflicting classifications of pathogenicity
ARSL
(G397R +3 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+2 more
GBenign/Likely benign
ARSL
(S156N +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
ARSL
Single nucleotide variant
(synonymous variant)
X-linked chondrodysplasia punctata 1
+3 more
GBenign
ARSL
Single nucleotide variant
(intron variant)
X-linked chondrodysplasia punctata 1
+3 more
GBenign
ARSL
(C8S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ARSL
(R7fs)
Microsatellite
(5 prime UTR variant +1 more)
Connective tissue disorder
+3 more
GBenign
ARSL
(H259D +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
ARSL
Single nucleotide variant
(synonymous variant +1 more)
Chondrodysplasia punctata, brachytelephalangic, autosomal
+2 more
GBenign
ARSL
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
ARSL
(R183H +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
ARSL
(L113F +3 more)
Single nucleotide variant
(missense variant)
X-linked chondrodysplasia punctata 1
+1 more
GConflicting classifications of pathogenicity
ARSL
Single nucleotide variant
(synonymous variant)
Chondrodysplasia punctata, brachytelephalangic, autosomal
+3 more
GBenign
ARSL
(I53V +2 more)
Single nucleotide variant
(missense variant +1 more)
X-linked chondrodysplasia punctata 1
+3 more
GBenign
ARSL
(G424S +3 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
ARSL
(G137A +3 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
ARSL
(T481M +3 more)
Single nucleotide variant
(missense variant)
X-linked chondrodysplasia punctata 1
Gnot provided
ARSL
(I40S +2 more)
Single nucleotide variant
(missense variant +1 more)
X-linked chondrodysplasia punctata 1
Gnot provided
ARSL
(W581* +3 more)
Single nucleotide variant
(nonsense)
Chondrodysplasia punctata, brachytelephalangic, autosomal
+3 more
GPathogenic/Likely pathogenic
ARSL
(P578S +3 more)
Single nucleotide variant
(missense variant)
X-linked chondrodysplasia punctata 1
GPathogenic
ARSL
(C492Y +3 more)
Single nucleotide variant
(missense variant)
X-linked chondrodysplasia punctata 1
GPathogenic
ARSL
(G245R +3 more)
Single nucleotide variant
(missense variant)
X-linked chondrodysplasia punctata 1
GPathogenic
ARSL
(G137V +3 more)
Single nucleotide variant
(missense variant)
X-linked chondrodysplasia punctata 1
GPathogenic
ARSL
(R111P +3 more)
Single nucleotide variant
(missense variant)
X-linked chondrodysplasia punctata 1
GPathogenic
ARSL
(G117R +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ARSL
(R12S +2 more)
Single nucleotide variant
(missense variant +1 more)
Chondrodysplasia punctata, brachytelephalangic, autosomal
+1 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination