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Links from MedGen

Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC6A3
(G502R)
Single nucleotide variant
(missense variant)
Classic dopamine transporter deficiency syndrome
GUncertain significance
SLC6A3
Single nucleotide variant
(intron variant)
Classic dopamine transporter deficiency syndrome
GUncertain significance
SLC6A3
Indel
(nonsense)
Classic dopamine transporter deficiency syndrome
GPathogenic
SLC6A3
(V73I)
Single nucleotide variant
(missense variant)
Classic dopamine transporter deficiency syndrome
GUncertain significance
SLC6A3
Single nucleotide variant
(intron variant)
Tobacco addiction, susceptibility to
+2 more
GBenign/Likely benign
SLC6A3
(P50L)
Single nucleotide variant
(missense variant)
Tobacco addiction, susceptibility to
+2 more
GUncertain significance
SLC6A3
(T144M)
Single nucleotide variant
(missense variant)
Parkinsonism-dystonia, infantile
+2 more
GUncertain significance
SLC6A3
(P194S)
Single nucleotide variant
(missense variant)
Tobacco addiction, susceptibility to
+2 more
GUncertain significance
SLC6A3
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
SLC6A3
Single nucleotide variant
(intron variant)
Classic dopamine transporter deficiency syndrome
+1 more
GBenign
SLC6A3
Single nucleotide variant
(synonymous variant)
Parkinsonism-dystonia, infantile
+3 more
GLikely benign
SLC6A3
(V300I)
Single nucleotide variant
(missense variant)
Parkinsonism-dystonia, infantile
+2 more
GUncertain significance
SLC6A3
Duplication
Classic dopamine transporter deficiency syndrome
+1 more
GUncertain significance
SLC6A3
(A331P)
Single nucleotide variant
(missense variant)
Classic dopamine transporter deficiency syndrome
GUncertain significance
SLC6A3
(R219H)
Single nucleotide variant
(missense variant)
Classic dopamine transporter deficiency syndrome
GUncertain significance
SLC6A3
Single nucleotide variant
(intron variant)
Classic dopamine transporter deficiency syndrome
GLikely pathogenic
SLC6A3
(V535M)
Single nucleotide variant
(missense variant)
Tobacco addiction, susceptibility to
+2 more
GUncertain significance
SLC6A3
(R60W)
Single nucleotide variant
(missense variant)
Parkinsonism-dystonia, infantile
+1 more
GConflicting classifications of pathogenicity
SLC6A3
Single nucleotide variant
(synonymous variant)
Parkinsonism-dystonia, infantile
+3 more
GLikely benign
SLC6A3
Single nucleotide variant
(synonymous variant)
Classic dopamine transporter deficiency syndrome
+2 more
GBenign/Likely benign
SLC6A3
(T356M)
Single nucleotide variant
(missense variant)
Parkinsonism-dystonia, infantile
+1 more
GUncertain significance
SLC6A3
(V24M)
Single nucleotide variant
(missense variant)
Parkinsonism-dystonia, infantile
+2 more
GUncertain significance
SLC6A3
Single nucleotide variant
(synonymous variant)
Parkinsonism-dystonia, infantile
+4 more
GConflicting classifications of pathogenicity
SLC6A3
Single nucleotide variant
(synonymous variant)
Classic dopamine transporter deficiency syndrome
+2 more
GBenign
SLC6A3
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
SLC6A3
Single nucleotide variant
(intron variant)
Classic dopamine transporter deficiency syndrome
+2 more
GBenign
SLC6A3
Single nucleotide variant
(synonymous variant)
Parkinsonism-dystonia, infantile
+2 more
GBenign/Likely benign
SLC6A3
Single nucleotide variant
(synonymous variant)
Parkinsonism-dystonia, infantile
+2 more
GBenign/Likely benign
SLC6A3
Single nucleotide variant
(synonymous variant)
Parkinsonism-dystonia, infantile
+2 more
GBenign/Likely benign
SLC6A3
Single nucleotide variant
(synonymous variant)
Parkinsonism-dystonia, infantile
+1 more
GBenign
SLC6A3
(L167F)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SLC6A3
(A559V)
Single nucleotide variant
(missense variant)
Parkinsonism-dystonia, infantile
+4 more
GUncertain significance
SLC6A3
Single nucleotide variant
(synonymous variant)
Parkinsonism-dystonia, infantile
+3 more
GBenign
SLC6A3
(R521W)
Single nucleotide variant
(missense variant)
Parkinsonism-dystonia, infantile
+1 more
GConflicting classifications of pathogenicity
SLC6A3
(L224P)
Single nucleotide variant
(missense variant)
Classic dopamine transporter deficiency syndrome
GPathogenic
SLC6A3
Single nucleotide variant
(splice donor variant)
Parkinsonism-dystonia, infantile
GLikely pathogenic
SLC6A3
Single nucleotide variant
(splice donor variant)
Parkinsonism-dystonia, infantile
+2 more
GPathogenic
SLC6A3
(P395L)
Single nucleotide variant
(missense variant)
Classic dopamine transporter deficiency syndrome
GPathogenic
SLC6A3
(L368Q)
Single nucleotide variant
(missense variant)
Classic dopamine transporter deficiency syndrome
GPathogenic
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