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Links from MedGen

Items: 84

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC6A19
(R513S)
Single nucleotide variant
(missense variant)
Neutral 1 amino acid transport defect
GUncertain significance
SLC6A19
(R57C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC6A19
(S390*)
Single nucleotide variant
(nonsense)
Neutral 1 amino acid transport defect
GLikely pathogenic
SLC6A19
(W104*)
Single nucleotide variant
(nonsense)
Neutral 1 amino acid transport defect
GLikely pathogenic
SLC6A19
(R57H)
Single nucleotide variant
(missense variant)
Neutral 1 amino acid transport defect
GLikely pathogenic
SLC6A19
(D517G)
Single nucleotide variant
(missense variant)
Neutral 1 amino acid transport defect
GLikely pathogenic
SLC6A19
(N340I)
Single nucleotide variant
(missense variant)
Neutral 1 amino acid transport defect
GUncertain significance
SLC6A19
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
SLC6A19
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
SLC6A19
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
SLC6A19
Single nucleotide variant
(synonymous variant)
Hyperglycinuria
+3 more
GLikely benign
SLC6A19
Single nucleotide variant
(intron variant)
Hyperglycinuria
+3 more
GLikely benign
SLC6A19
Single nucleotide variant
(intron variant)
Iminoglycinuria
+3 more
GLikely benign
SLC6A19
Single nucleotide variant
(intron variant)
Iminoglycinuria
+3 more
GLikely benign
SLC6A19
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
SLC6A19
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
SLC6A19
Single nucleotide variant
(intron variant)
Neutral 1 amino acid transport defect
+3 more
GLikely benign
SLC6A19
Single nucleotide variant
(synonymous variant)
Iminoglycinuria
+3 more
GLikely benign
SLC6A19
Single nucleotide variant
(intron variant)
Hyperglycinuria
+3 more
GBenign/Likely benign
SLC6A19
Single nucleotide variant
(synonymous variant)
SLC6A19-related disorder
+4 more
GLikely benign
SLC6A19
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
SLC6A19
Single nucleotide variant
(intron variant)
Hyperglycinuria
+3 more
GLikely benign
SLC6A19
Single nucleotide variant
(synonymous variant)
Neutral 1 amino acid transport defect
+3 more
GLikely benign
SLC6A19
Single nucleotide variant
(synonymous variant)
Iminoglycinuria
+3 more
GLikely benign
SLC6A19
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
SLC6A19
Single nucleotide variant
(synonymous variant)
Hyperglycinuria
+3 more
GBenign/Likely benign
SLC6A19
(P33L)
Single nucleotide variant
(missense variant)
Neutral 1 amino acid transport defect
+3 more
GUncertain significance
SLC6A19
(A329T)
Single nucleotide variant
(missense variant)
Neutral 1 amino acid transport defect
+3 more
GUncertain significance
SLC6A19
(N515K)
Single nucleotide variant
(missense variant)
Neutral 1 amino acid transport defect
+4 more
GUncertain significance
SLC6A19
(L415P)
Single nucleotide variant
(missense variant)
Neutral 1 amino acid transport defect
+3 more
GUncertain significance
SLC6A19
(P442H)
Single nucleotide variant
(missense variant)
Hyperglycinuria
+3 more
GUncertain significance
SLC6A19
(R168G)
Single nucleotide variant
(missense variant)
Hyperglycinuria
+3 more
GUncertain significance
SLC6A19
(T228M)
Single nucleotide variant
(missense variant)
Hyperglycinuria
+3 more
GUncertain significance
SLC6A19
(L484P)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SLC6A19
(P230S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SLC6A19
(M42T)
Single nucleotide variant
(missense variant)
Neutral 1 amino acid transport defect
+3 more
GUncertain significance
SLC6A19
(R214H)
Single nucleotide variant
(missense variant)
Iminoglycinuria
+3 more
GUncertain significance
SLC6A19
(R366Q)
Single nucleotide variant
(missense variant)
Hyperglycinuria
+3 more
GUncertain significance
SLC6A19
(R214G)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SLC6A19
(R32Q)
Single nucleotide variant
(missense variant)
Hyperglycinuria
+3 more
GUncertain significance
SLC6A19
(D335N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
SLC6A19
(R98Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SLC6A19
(V508M)
Single nucleotide variant
(missense variant)
Hyperglycinuria
+3 more
GUncertain significance
SLC6A19
(T256M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SLC6A19
(R98W)
Single nucleotide variant
(missense variant)
Neutral 1 amino acid transport defect
+3 more
GUncertain significance
SLC6A19
(V233I)
Single nucleotide variant
(missense variant)
Iminoglycinuria
+3 more
GUncertain significance
SLC6A19
(R95Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC6A19
Single nucleotide variant
(intron variant)
Neutral 1 amino acid transport defect
+2 more
GBenign
SLC6A19
Single nucleotide variant
(intron variant)
Neutral 1 amino acid transport defect
+1 more
GBenign
SLC6A19
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SLC6A19
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SLC6A19
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SLC6A19
Single nucleotide variant
(splice donor variant)
Neutral 1 amino acid transport defect
+2 more
GLikely pathogenic
SLC6A19
Single nucleotide variant
(intron variant)
Neutral 1 amino acid transport defect
+2 more
GUncertain significance
SLC6A19
(T180M)
Single nucleotide variant
(missense variant)
Neutral 1 amino acid transport defect
+3 more
GUncertain significance
SLC6A19
(V536M)
Single nucleotide variant
(missense variant)
Neutral 1 amino acid transport defect
+1 more
GConflicting classifications of pathogenicity
SLC6A19
(L238F)
Single nucleotide variant
(missense variant)
Hyperglycinuria
+2 more
GUncertain significance
SLC6A19
(R535C)
Single nucleotide variant
(missense variant)
Hyperglycinuria
+3 more
GUncertain significance
SLC6A19
(G490S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
SLC6A19
(R178*)
Single nucleotide variant
(nonsense)
SLC6A19-related disorder
+4 more
GPathogenic
SLC6A19
(I597fs)
Insertion
(frameshift variant)
Neutral 1 amino acid transport defect
GPathogenic
SLC6A19
(S303L)
Single nucleotide variant
(missense variant)
Neutral 1 amino acid transport defect
+1 more
GUncertain significance
SLC6A19
Single nucleotide variant
(synonymous variant)
Neutral 1 amino acid transport defect
+3 more
GBenign/Likely benign
SLC6A19
Single nucleotide variant
(synonymous variant)
Hyperglycinuria
+3 more
GLikely benign
SLC6A19
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
SLC6A19
Single nucleotide variant
(synonymous variant)
SLC6A19-related disorder
+4 more
GBenign/Likely benign
SLC6A19
Single nucleotide variant
(intron variant)
Neutral 1 amino acid transport defect
+3 more
GLikely benign
SLC6A19
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
SLC6A19
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
SLC6A19
Single nucleotide variant
(synonymous variant)
Hyperglycinuria
+3 more
GBenign
SLC6A19
(I15M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
SLC6A19
Single nucleotide variant
(synonymous variant)
Iminoglycinuria
+3 more
GLikely benign
SLC6A19
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GLikely benign
SLC6A19
Single nucleotide variant
(synonymous variant)
Hyperglycinuria
+3 more
GBenign/Likely benign
SLC6A19
(G630R)
Single nucleotide variant
(missense variant)
Neutral 1 amino acid transport defect
GUncertain significance
SLC6A19
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SLC6A19
(Y488C)
Single nucleotide variant
(missense variant)
Neutral 1 amino acid transport defect
GUncertain significance
SLC6A19
Single nucleotide variant
(splice donor variant)
SLC6A19-related disorder
+4 more
GPathogenic
SLC6A19
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
SLC6A19
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
SLC6A19
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
SLC6A19
(R240*)
Single nucleotide variant
(nonsense)
Hyperglycinuria
+2 more
GPathogenic
SLC6A19
(D173N)
Single nucleotide variant
(missense variant)
Neutral 1 amino acid transport defect
+5 more
GConflicting classifications of pathogenicity
SLC6A19
(V295fs)
Microsatellite
(frameshift variant)
Neutral 1 amino acid transport defect
GPathogenic
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