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Links from MedGen

Items: 93

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC19A2
(S189fs)
Indel
(frameshift variant +1 more)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GPathogenic
SLC19A2
(S194F)
Single nucleotide variant
(missense variant +1 more)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GUncertain significance
SLC19A2
(L237F +1 more)
Single nucleotide variant
(missense variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GUncertain significance
SLC19A2
(G105E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
SLC19A2
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
LOC129931894, SLC19A2
(A16del)
Microsatellite
(inframe_deletion)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+1 more
GUncertain significance
LOC129931894, SLC19A2
(A35V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SLC19A2
(Q233*)
Single nucleotide variant
(nonsense +1 more)
Ear malformation
+1 more
GPathogenic
LOC129931894, SLC19A2
(F42V)
Single nucleotide variant
(missense variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GUncertain significance
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+1 more
GConflicting classifications of pathogenicity
LOC129931894, SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC19A2
Single nucleotide variant
(synonymous variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GUncertain significance
SLC19A2
Single nucleotide variant
(3 prime UTR variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GUncertain significance
SLC19A2
Single nucleotide variant
(3 prime UTR variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GUncertain significance
SLC19A2
Single nucleotide variant
(3 prime UTR variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GUncertain significance
SLC19A2
(R96H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
SLC19A2
(S173C)
Single nucleotide variant
(missense variant +1 more)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GUncertain significance
SLC19A2
(P265S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC19A2
Single nucleotide variant
(3 prime UTR variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GUncertain significance
SLC19A2
Single nucleotide variant
(3 prime UTR variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GUncertain significance
SLC19A2
Single nucleotide variant
(3 prime UTR variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GUncertain significance
SLC19A2
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC19A2
Single nucleotide variant
(synonymous variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GUncertain significance
SLC19A2
Single nucleotide variant
(3 prime UTR variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GUncertain significance
SLC19A2
Single nucleotide variant
(3 prime UTR variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GUncertain significance
SLC19A2
Single nucleotide variant
(3 prime UTR variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GUncertain significance
SLC19A2
(V242I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC19A2
Single nucleotide variant
(3 prime UTR variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GUncertain significance
SLC19A2
Single nucleotide variant
(3 prime UTR variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GUncertain significance
SLC19A2
(R67T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC19A2
(T365S +1 more)
Single nucleotide variant
(missense variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+1 more
GBenign/Likely benign
SLC19A2
(I230F)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC19A2
Single nucleotide variant
(splice acceptor variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GUncertain significance
SLC19A2, LOC129931894
(T22fs)
Deletion
(frameshift variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GPathogenic
SLC19A2
(L195fs)
Deletion
(intron variant +1 more)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GPathogenic
SLC19A2
(G334D +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SLC19A2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC19A2
(W361* +1 more)
Single nucleotide variant
(nonsense)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GPathogenic
SLC19A2
(S143F)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
SLC19A2
Single nucleotide variant
(intron variant +1 more)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+1 more
GLikely pathogenic
SLC19A2
(R275L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SLC19A2
Single nucleotide variant
(5 prime UTR variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+1 more
GBenign/Likely benign
LOC120893165, SLC19A2
Single nucleotide variant
(5 prime UTR variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+2 more
GConflicting classifications of pathogenicity
SLC19A2
Single nucleotide variant
(5 prime UTR variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+1 more
GUncertain significance
SLC19A2
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SLC19A2
Single nucleotide variant
(5 prime UTR variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+1 more
GUncertain significance
SLC19A2
Single nucleotide variant
(5 prime UTR variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+2 more
GConflicting classifications of pathogenicity
LOC129931894, SLC19A2
Single nucleotide variant
(5 prime UTR variant)
Thiamine-responsive megaloblastic anemia
+1 more
GUncertain significance
SLC19A2, LOC129931894
(P4S)
Single nucleotide variant
(missense variant)
Thiamine-responsive megaloblastic anemia
+1 more
GUncertain significance
SLC19A2
Duplication
(intron variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+1 more
GUncertain significance
SLC19A2
Duplication
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SLC19A2
(N71S)
Single nucleotide variant
(missense variant +1 more)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+3 more
GUncertain significance
SLC19A2
(L95F)
Single nucleotide variant
(missense variant +1 more)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+2 more
GUncertain significance
SLC19A2
(S163C)
Single nucleotide variant
(missense variant +1 more)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+2 more
GUncertain significance
SLC19A2
Single nucleotide variant
(synonymous variant +1 more)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+2 more
GConflicting classifications of pathogenicity
SLC19A2
Single nucleotide variant
(synonymous variant +1 more)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+2 more
GConflicting classifications of pathogenicity
SLC19A2
Single nucleotide variant
(synonymous variant +1 more)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+3 more
GConflicting classifications of pathogenicity
SLC19A2
(V266M)
Single nucleotide variant
(missense variant +1 more)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+4 more
GConflicting classifications of pathogenicity
SLC19A2
Single nucleotide variant
(intron variant)
Thiamine-responsive megaloblastic anemia
+1 more
GUncertain significance
SLC19A2
(L282P +1 more)
Single nucleotide variant
(missense variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+1 more
GUncertain significance
SLC19A2
(M479T +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SLC19A2
(T496A +1 more)
Single nucleotide variant
(missense variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+2 more
GConflicting classifications of pathogenicity
SLC19A2
Single nucleotide variant
(3 prime UTR variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+2 more
GBenign
SLC19A2
Single nucleotide variant
(3 prime UTR variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+1 more
GUncertain significance
SLC19A2
Single nucleotide variant
(3 prime UTR variant)
Thiamine-responsive megaloblastic anemia
+1 more
GUncertain significance
SLC19A2
Single nucleotide variant
(3 prime UTR variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+1 more
GUncertain significance
SLC19A2
Single nucleotide variant
(3 prime UTR variant)
Thiamine-responsive megaloblastic anemia
+1 more
GUncertain significance
SLC19A2
Duplication
(3 prime UTR variant)
Thiamine-responsive megaloblastic anemia
+1 more
GUncertain significance
SLC19A2
Deletion
(3 prime UTR variant)
Thiamine-responsive megaloblastic anemia
+1 more
GUncertain significance
SLC19A2
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
SLC19A2
Single nucleotide variant
(3 prime UTR variant)
Thiamine-responsive megaloblastic anemia
+1 more
GUncertain significance
SLC19A2
Single nucleotide variant
(3 prime UTR variant)
Thiamine-responsive megaloblastic anemia
+1 more
GUncertain significance
SLC19A2
Single nucleotide variant
(3 prime UTR variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+2 more
GConflicting classifications of pathogenicity
SLC19A2
Microsatellite
(3 prime UTR variant)
Thiamine-responsive megaloblastic anemia
+1 more
GUncertain significance
SLC19A2
Single nucleotide variant
(3 prime UTR variant)
Thiamine-responsive megaloblastic anemia
+1 more
GUncertain significance
SLC19A2
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
SLC19A2
Microsatellite
(3 prime UTR variant)
Thiamine-responsive megaloblastic anemia
+1 more
GUncertain significance
SLC19A2
(I441T +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
SLC19A2
Single nucleotide variant
(synonymous variant)
Thiamine-responsive megaloblastic anemia
+4 more
GBenign/Likely benign
SLC19A2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
SLC19A2
Single nucleotide variant
(5 prime UTR variant)
Thiamine-responsive megaloblastic anemia
+3 more
GBenign
LOC129931894, SLC19A2
(P51L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC19A2
(W358* +1 more)
Single nucleotide variant
(nonsense)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GPathogenic
SLC19A2
(I145fs)
Deletion
(frameshift variant +1 more)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GPathogenic
SLC19A2
(Y81*)
Duplication
(nonsense +1 more)
not provided
GPathogenic
SLC19A2
(V182fs +1 more)
Microsatellite
(frameshift variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GPathogenic
SLC19A2
(L95fs +1 more)
Deletion
(frameshift variant)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
GPathogenic
SLC19A2
(W250*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
SLC19A2
(G172D)
Single nucleotide variant
(missense variant +1 more)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
+1 more
GPathogenic
SLC19A2
(P242fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
SLC19A2
(R162*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
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