U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 77

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC16A2
(T356I)
Single nucleotide variant
(missense variant)
Allan-Herndon-Dudley syndrome
GUncertain significance
SLC16A2
(S210Y)
Single nucleotide variant
(missense variant)
Allan-Herndon-Dudley syndrome
GLikely pathogenic
SLC16A2
(A178fs)
Duplication
(frameshift variant)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(E9*)
Single nucleotide variant
(nonsense)
Spastic paraplegia
+1 more
GPathogenic
SLC16A2
(E78*)
Single nucleotide variant
(nonsense)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(G122R)
Single nucleotide variant
(missense variant)
Allan-Herndon-Dudley syndrome
GLikely pathogenic
SLC16A2
(Y339fs)
Duplication
(frameshift variant)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(G233V)
Single nucleotide variant
(missense variant)
Allan-Herndon-Dudley syndrome
GUncertain significance
SLC16A2
(P464T)
Single nucleotide variant
(missense variant)
Allan-Herndon-Dudley syndrome
GUncertain significance
SLC16A2
(M244fs)
Deletion
(frameshift variant)
Allan-Herndon-Dudley syndrome
GLikely pathogenic
SLC16A2
(Q214*)
Single nucleotide variant
(nonsense)
Spastic paraplegia
GPathogenic
SLC16A2
(S286fs)
Duplication
(frameshift variant)
Allan-Herndon-Dudley syndrome
GLikely pathogenic
SLC16A2
(F326L)
Single nucleotide variant
(missense variant)
Allan-Herndon-Dudley syndrome
GUncertain significance
SLC16A2
Deletion
(frameshift variant)
Allan-Herndon-Dudley syndrome
GLikely pathogenic
SLC16A2
(I488fs)
Duplication
(frameshift variant)
Allan-Herndon-Dudley syndrome
GLikely pathogenic
SLC16A2
(N136fs)
Deletion
(frameshift variant)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(P463L)
Single nucleotide variant
(missense variant)
Allan-Herndon-Dudley syndrome
GLikely pathogenic
SLC16A2
Single nucleotide variant
(intron variant)
Allan-Herndon-Dudley syndrome
GUncertain significance
SLC16A2
(S33fs)
Duplication
(frameshift variant)
Allan-Herndon-Dudley syndrome
+1 more
GPathogenic/Likely pathogenic
SLC16A2
Single nucleotide variant
(splice acceptor variant)
Allan-Herndon-Dudley syndrome
GLikely pathogenic
SLC16A2
(Q288fs)
Duplication
(frameshift variant)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(I203fs)
Deletion
(frameshift variant)
Allan-Herndon-Dudley syndrome
GLikely pathogenic
SLC16A2
(D424N)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GLikely pathogenic
SLC16A2
(Y280*)
Single nucleotide variant
(nonsense)
Allan-Herndon-Dudley syndrome
GLikely pathogenic
SLC16A2
Deletion
(splice donor variant +1 more)
Allan-Herndon-Dudley syndrome
GPathogenic
FTX, JPX
+2 more
Copy number loss
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(W324*)
Single nucleotide variant
(nonsense)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(W357*)
Single nucleotide variant
(nonsense)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(G112R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SLC16A2
(W145*)
Single nucleotide variant
(nonsense)
Allan-Herndon-Dudley syndrome
GLikely pathogenic
SLC16A2
(R171*)
Single nucleotide variant
(nonsense)
Allan-Herndon-Dudley syndrome
+1 more
GPathogenic
SLC16A2
Insertion
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(Y223D)
Single nucleotide variant
(missense variant)
Allan-Herndon-Dudley syndrome
GUncertain significance
SLC16A2
(A150T)
Single nucleotide variant
(missense variant)
Allan-Herndon-Dudley syndrome
GUncertain significance
SLC16A2
(P458fs)
Deletion
(frameshift variant)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(G421V)
Single nucleotide variant
(missense variant)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(N136fs)
Duplication
(frameshift variant)
Allan-Herndon-Dudley syndrome
+1 more
GPathogenic/Likely pathogenic
SLC16A2
(G147R)
Single nucleotide variant
(missense variant)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(E9K)
Single nucleotide variant
(missense variant)
Allan-Herndon-Dudley syndrome
GUncertain significance
SLC16A2
(Q52*)
Single nucleotide variant
(nonsense)
Allan-Herndon-Dudley syndrome
+2 more
GPathogenic
SLC16A2
Microsatellite
(5 prime UTR variant)
Allan-Herndon-Dudley syndrome
+3 more
GBenign/Likely benign
SLC16A2
(P464S)
Single nucleotide variant
(missense variant)
Allan-Herndon-Dudley syndrome
GLikely pathogenic
SLC16A2
Deletion
(splice donor variant)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(W145*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SLC16A2
(A178fs)
Deletion
(frameshift variant)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
Single nucleotide variant
(splice donor variant)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
Microsatellite
(inframe_insertion)
not provided
+2 more
GConflicting classifications of pathogenicity
SLC16A2
(Y125fs)
Deletion
(frameshift variant)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(R86fs)
Deletion
(frameshift variant)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(V492fs)
Deletion
(frameshift variant)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(I465fs)
Duplication
(frameshift variant)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(R314*)
Single nucleotide variant
(nonsense)
Spastic paraplegia
+2 more
GPathogenic
SLC16A2
(G490R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SLC16A2
(R197H)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
SLC16A2
(A150E)
Single nucleotide variant
(missense variant)
Allan-Herndon-Dudley syndrome
GLikely pathogenic
SLC16A2
(Q93*)
Single nucleotide variant
(nonsense)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
Single nucleotide variant
(5 prime UTR variant)
Allan-Herndon-Dudley syndrome
GUncertain significance
SLC16A2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SLC16A2
(R371C)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+4 more
GPathogenic/Likely pathogenic
SLC16A2
(G327R)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+3 more
GPathogenic/Likely pathogenic
SLC16A2
(Q306*)
Single nucleotide variant
(nonsense)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(L418P)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SLC16A2
(S120F)
Single nucleotide variant
(missense variant)
Allan-Herndon-Dudley syndrome
Gnot provided
SLC16A2
(S33P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GBenign
SLC16A2
(F427del)
Microsatellite
(inframe_deletion)
Allan-Herndon-Dudley syndrome
Gnot provided
SLC16A2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
SLC16A2
(P538fs)
Deletion
(frameshift variant)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(F156del)
Microsatellite
(inframe_deletion)
Allan-Herndon-Dudley syndrome
+1 more
GPathogenic/Likely pathogenic
SLC16A2
(S374*)
Single nucleotide variant
(nonsense)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(L360W)
Single nucleotide variant
(missense variant)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(L494P)
Single nucleotide variant
(missense variant)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
Deletion
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(L397P)
Single nucleotide variant
(missense variant)
Intellectual disability
GPathogenic
LOC130068443, SLC16A2
Deletion
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(A150V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
SLC16A2
(A332fs)
Deletion
(frameshift variant)
Allan-Herndon-Dudley syndrome
GPathogenic
SLC16A2
(L438P)
Single nucleotide variant
(missense variant)
Allan-Herndon-Dudley syndrome
GPathogenic
Format
Items per page
Sort by
Choose Destination