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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC26A2
Single nucleotide variant
(splice donor variant)
SLC26A2-Related Disorders
+7 more
GPathogenic
SLC26A2
(R178*)
Single nucleotide variant
(nonsense)
Multiple epiphyseal dysplasia type 4
+7 more
GPathogenic
SLC26A2
(R279W)
Single nucleotide variant
(missense variant)
SLC26A2-Related Disorders
+10 more
GPathogenic/Likely pathogenic
SLC26A2
(V341del)
Microsatellite
(inframe_deletion)
Multiple epiphyseal dysplasia type 4
+5 more
GPathogenic/Likely pathogenic
SLC26A2
(N425D)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+3 more
GPathogenic/Likely pathogenic
SLC26A2
(Q454P)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia, broad bone-platyspondylic variant
GPathogenic
SLC26A2
(R492W)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+7 more
GBenign/Likely benign
SLC26A2
(C653S)
Single nucleotide variant
(missense variant)
SLC26A2-Related Disorders
+8 more
GPathogenic/Likely pathogenic
SLC26A2
(G678V)
Single nucleotide variant
(missense variant)
Osteochondrodysplasia
+1 more
GLikely pathogenic
SLC26A2
(T689S)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+7 more
GBenign/Likely benign
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