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Links from MedGen

Items: 1 to 100 of 599

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC26A2
(I607fs)
Deletion
(frameshift variant)
Diastrophic dysplasia
GUncertain significance
SLC26A2
Single nucleotide variant
(synonymous variant)
Multiple epiphyseal dysplasia type 4
+3 more
GLikely benign
SLC26A2
Deletion
Achondrogenesis, type IB
+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
(L309F)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+3 more
GUncertain significance
SLC26A2
(S190G)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+3 more
GUncertain significance
SLC26A2
(L483F)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+3 more
GUncertain significance
SLC26A2
(A260V)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+3 more
GUncertain significance
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(M236V)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+3 more
GUncertain significance
SLC26A2
(D209E)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+3 more
GUncertain significance
SLC26A2
(C212F)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+3 more
GUncertain significance
SLC26A2
(I607V)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+3 more
GUncertain significance
SLC26A2
(I514T)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+3 more
GUncertain significance
SLC26A2
(V557A)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+4 more
GUncertain significance
SLC26A2
(K615del)
Microsatellite
(inframe_deletion)
Diastrophic dysplasia
+3 more
GUncertain significance
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(L469V)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+3 more
GUncertain significance
SLC26A2
(P24fs)
Deletion
(frameshift variant)
Diastrophic dysplasia
+3 more
GPathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(I664M)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+3 more
GUncertain significance
SLC26A2
(I580T)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+3 more
GUncertain significance
SLC26A2
(T689A)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+3 more
GUncertain significance
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(S25C)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+3 more
GUncertain significance
SLC26A2
(G422S)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+3 more
GUncertain significance
SLC26A2
(Y232C)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+3 more
GUncertain significance
SLC26A2
(R496C)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+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
(K372R)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+3 more
GUncertain significance
SLC26A2
(S347F)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+3 more
GUncertain significance
SLC26A2
(S522P)
Single nucleotide variant
(missense variant)
Diastrophic dysplasia
+3 more
GUncertain significance
SLC26A2
(H647Y)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IB
+4 more
GUncertain significance
SLC26A2
(Q32L)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IB
+3 more
GUncertain significance
SLC26A2
(A494V)
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
(K480R)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IB
+3 more
GUncertain significance
SLC26A2
(R671C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
SLC26A2
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GLikely benign
SLC26A2
(D633V)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IB
+3 more
GUncertain significance
SLC26A2
(A331del)
Deletion
(inframe_deletion)
Achondrogenesis, type IB
+3 more
GUncertain significance
SLC26A2
(M716V)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IB
+3 more
GUncertain significance
SLC26A2
(K575R)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IB
+3 more
GUncertain significance
SLC26A2
(D673V)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IB
+3 more
GUncertain significance
SLC26A2
(S157T)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IB
+3 more
GUncertain significance
SLC26A2
(N696fs)
Duplication
(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
(V517L)
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
(R210S)
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
(K40*)
Single nucleotide variant
(nonsense)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
(K72*)
Single nucleotide variant
(nonsense)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
(N281*)
Duplication
(nonsense)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
(Q602fs)
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
Single nucleotide variant
(synonymous variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(F69L)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IB
+3 more
GUncertain significance
SLC26A2
Single nucleotide variant
(intron variant)
Achondrogenesis, type IB
+3 more
GLikely benign
SLC26A2
(S327F)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IB
+3 more
GUncertain significance
SLC26A2
(Y589*)
Single nucleotide variant
(nonsense)
Achondrogenesis, type IB
+3 more
GPathogenic
SLC26A2
(H206R)
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
(N187S)
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
(P124T)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IB
+3 more
GUncertain significance
SLC26A2
(F39L)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IB
+3 more
GUncertain significance
SLC26A2
(N687S)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IB
+3 more
GUncertain significance
SLC26A2
(I127M)
Single nucleotide variant
(missense variant)
Achondrogenesis, type IB
+3 more
GUncertain significance
SLC26A2
(Y217C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
SLC26A2
(D739fs)
Deletion
(frameshift variant)
Achondrogenesis, type IB
+3 more
GUncertain significance
SLC26A2
(I679M)
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
(G422A)
Single nucleotide variant
(missense variant)
Atelosteogenesis type II
+3 more
GUncertain significance
SLC26A2
(L544fs)
Deletion
(frameshift variant)
Atelosteogenesis type II
+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
(S35*)
Single nucleotide variant
(nonsense)
Atelosteogenesis type II
+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
(E704fs)
Deletion
(frameshift variant)
Atelosteogenesis type II
+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
(S448*)
Single nucleotide variant
(nonsense)
Atelosteogenesis type II
+3 more
GPathogenic
SLC26A2
Single nucleotide variant
(synonymous variant)
Multiple epiphyseal dysplasia type 4
+3 more
GLikely benign
SLC26A2
(L204V)
Single nucleotide variant
(missense variant)
Atelosteogenesis type II
+3 more
GUncertain significance
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