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Links from MedGen

Items: 1 to 100 of 708

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC26A2
(I574fs)
Insertion
(frameshift variant)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(W505*)
Single nucleotide variant
(nonsense)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(L599*)
Single nucleotide variant
(nonsense)
Achondrogenesis, type IB
+3 more
GPathogenic/Likely pathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Atelosteogenesis type II
+3 more
GLikely benign
SLC26A2
(D103fs)
Deletion
(frameshift variant)
Atelosteogenesis type II
+3 more
GPathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Atelosteogenesis type II
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Atelosteogenesis type II
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Atelosteogenesis type II
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Atelosteogenesis type II
+3 more
GLikely benign
SLC26A2
(L495fs)
Duplication
(frameshift variant)
Atelosteogenesis type II
+3 more
GPathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Atelosteogenesis type II
+3 more
GLikely benign
SLC26A2
(F475L)
Single nucleotide variant
(missense variant)
Atelosteogenesis type II
+3 more
GUncertain significance
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(intron variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(Q657fs)
Deletion
(frameshift variant)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
(L93fs)
Deletion
(frameshift variant)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(intron variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(Q135fs)
Microsatellite
(frameshift variant)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(L321fs)
Deletion
(frameshift variant)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(Y142*)
Single nucleotide variant
(nonsense)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
(G242V)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+3 more
GUncertain significance
SLC26A2
Single nucleotide variant
(synonymous variant)
Diastrophic dysplasia
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Diastrophic dysplasia
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Diastrophic dysplasia
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Diastrophic dysplasia
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Diastrophic dysplasia
+3 more
GLikely benign
SLC26A2
Deletion
(inframe_deletion)
Diastrophic dysplasia
+3 more
GPathogenic
SLC26A2
(N696fs)
Deletion
(frameshift variant)
Atelosteogenesis type II
+3 more
GPathogenic
SLC26A2
(Y232*)
Duplication
(nonsense)
Atelosteogenesis type II
+3 more
GPathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Atelosteogenesis type II
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Atelosteogenesis type II
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Atelosteogenesis type II
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Atelosteogenesis type II
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Atelosteogenesis type II
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Atelosteogenesis type II
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Atelosteogenesis type II
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Atelosteogenesis type II
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(intron variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(Q125*)
Single nucleotide variant
(nonsense)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
Single nucleotide variant
(intron variant)
Diastrophic dysplasia
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Diastrophic dysplasia
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Diastrophic dysplasia
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Diastrophic dysplasia
+3 more
GLikely benign
SLC26A2
(S81fs)
Deletion
(frameshift variant)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Diastrophic dysplasia
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Diastrophic dysplasia
+3 more
GLikely benign
SLC26A2
(C311fs)
Duplication
(frameshift variant)
Diastrophic dysplasia
+3 more
GPathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Diastrophic dysplasia
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(intron variant)
Diastrophic dysplasia
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(intron variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(A461S)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IB
+3 more
GUncertain significance
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Atelosteogenesis type II
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Atelosteogenesis type II
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Atelosteogenesis type II
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Atelosteogenesis type II
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Atelosteogenesis type II
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Indel
(nonsense)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(D46fs)
Insertion
(frameshift variant)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(S190*)
Duplication
(nonsense)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
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