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Links from MedGen

Items: 1 to 100 of 102

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPART
Single nucleotide variant
(splice acceptor variant)
Troyer syndrome
GLikely pathogenic
SPART
(Q130L)
Single nucleotide variant
(missense variant)
Troyer syndrome
GUncertain significance
SPART
(V233fs)
Duplication
(frameshift variant)
Troyer syndrome
+1 more
GPathogenic/Likely pathogenic
SPART
(M299fs)
Deletion
(frameshift variant)
Troyer syndrome
GPathogenic
SPART
(M330V)
Single nucleotide variant
(missense variant)
Troyer syndrome
GConflicting classifications of pathogenicity
SPART
(G198*)
Single nucleotide variant
(nonsense)
Troyer syndrome
GLikely pathogenic
SPART
(P156S)
Single nucleotide variant
(missense variant)
Troyer syndrome
+2 more
GUncertain significance
SPART
(S432fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
SPART
(V467M)
Single nucleotide variant
(missense variant)
Troyer syndrome
GUncertain significance
SPART
(Q492fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
SPART
Single nucleotide variant
(synonymous variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(intron variant)
Troyer syndrome
GUncertain significance
SPART
(S365P)
Single nucleotide variant
(missense variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GBenign
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(synonymous variant)
Troyer syndrome
GUncertain significance
SPART
(A542T)
Single nucleotide variant
(missense variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
(V599I)
Single nucleotide variant
(missense variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
(E41D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SPART
(G98S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SPART
Single nucleotide variant
(synonymous variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
(L159fs)
Microsatellite
(frameshift variant)
Troyer syndrome
+1 more
GConflicting classifications of pathogenicity
SPART
(A590V)
Single nucleotide variant
(missense variant)
Troyer syndrome
+1 more
GConflicting classifications of pathogenicity
SPART
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
SPART
Single nucleotide variant
(synonymous variant)
Troyer syndrome
GLikely benign
SPART
(K377M)
Single nucleotide variant
(missense variant)
Troyer syndrome
+1 more
GConflicting classifications of pathogenicity
SPART
(Y187C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SPART
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+4 more
GConflicting classifications of pathogenicity
SPART
(R457*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
SPART, SPART-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Troyer syndrome
GUncertain significance
SPART, SPART-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Troyer syndrome
+1 more
GBenign/Likely benign
SPART, SPART-AS1
Microsatellite
(non-coding transcript variant +1 more)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(5 prime UTR variant +1 more)
Troyer syndrome
+1 more
GBenign/Likely benign
SPART
Single nucleotide variant
(5 prime UTR variant +1 more)
Troyer syndrome
GUncertain significance
LOC130009569, SPART
Single nucleotide variant
(5 prime UTR variant +1 more)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SPART
Single nucleotide variant
(synonymous variant)
Troyer syndrome
+1 more
GConflicting classifications of pathogenicity
SPART
(Q229R)
Single nucleotide variant
(missense variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(synonymous variant)
Troyer syndrome
+1 more
GConflicting classifications of pathogenicity
SPART
(A472S)
Single nucleotide variant
(missense variant)
Troyer syndrome
+1 more
GConflicting classifications of pathogenicity
SPART
Single nucleotide variant
(synonymous variant)
Troyer syndrome
GUncertain significance
SPART
(N582I)
Single nucleotide variant
(missense variant)
Troyer syndrome
GUncertain significance
SPART
(D652N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SPART
(T655M)
Single nucleotide variant
(missense variant)
Troyer syndrome
+1 more
GUncertain significance
SPART
Deletion
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GLikely benign
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GLikely benign
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GLikely benign
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GBenign
SPART
Microsatellite
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GLikely benign
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GLikely benign
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GLikely benign
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GLikely benign
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GBenign
SPART
Deletion
(3 prime UTR variant)
Troyer syndrome
GLikely benign
SPART
Deletion
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GLikely benign
SPART
Single nucleotide variant
(3 prime UTR variant)
Troyer syndrome
GUncertain significance
SPART
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SPART
(D121Y)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
SPART
(D391G)
Single nucleotide variant
(missense variant)
Troyer syndrome
+5 more
GConflicting classifications of pathogenicity
SPART
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+3 more
GConflicting classifications of pathogenicity
SPART
(T484fs)
Duplication
(frameshift variant)
Troyer syndrome
GPathogenic
SPART
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
LOC126807111, GRID2
+2 more
Deletion
Troyer syndrome
GUncertain significance
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