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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
(T481M +3 more)
Single nucleotide variant
(missense variant)
X-linked chondrodysplasia punctata 1
Gnot provided
ARSL
(G137A +3 more)
Single nucleotide variant
(missense variant)
Chondrodysplasia punctata, brachytelephalangic, autosomal
+4 more
GConflicting classifications of pathogenicity
ARSL
(G137V +3 more)
Single nucleotide variant
(missense variant)
X-linked chondrodysplasia punctata 1
GPathogenic
ARSL
(I40S +2 more)
Single nucleotide variant
(missense variant +1 more)
X-linked chondrodysplasia punctata 1
Gnot provided
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