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Links from MedGen

Items: 1 to 100 of 1090

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HGSNAT
Deletion
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
(Y468fs +2 more)
Deletion
(frameshift variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GPathogenic
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(splice acceptor variant +1 more)
Retinitis pigmentosa 73
+1 more
GPathogenic
HGSNAT
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 73
+1 more
GUncertain significance
HGSNAT, LOC130000316
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 73
+1 more
GLikely pathogenic
HGSNAT
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
(W265fs)
Duplication
(frameshift variant +1 more)
Retinitis pigmentosa 73
+1 more
GPathogenic
HGSNAT
(Y165C +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 73
+1 more
GUncertain significance
HGSNAT
(L186*)
Single nucleotide variant
(nonsense +1 more)
Retinitis pigmentosa 73
+1 more
GPathogenic
HGSNAT
Duplication
(intron variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Duplication
(intron variant)
Retinitis pigmentosa 73
+1 more
GBenign
HGSNAT
Deletion
(intron variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT, LOC130000316
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(splice donor variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GPathogenic
HGSNAT
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
(D321fs +2 more)
Insertion
(frameshift variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GPathogenic
HGSNAT
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
(K43*)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis, MPS-III-C
+1 more
GPathogenic
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
(A169fs)
Duplication
(frameshift variant +1 more)
Mucopolysaccharidosis, MPS-III-C
+1 more
GPathogenic
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(5 prime UTR variant +1 more)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT, LOC130000316
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
(C151fs)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis, MPS-III-C
+1 more
GPathogenic
HGSNAT, LOC130000316
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT, LOC130000316
(P25fs)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis, MPS-III-C
+1 more
GPathogenic
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT, LOC130000316
(S29*)
Single nucleotide variant
(nonsense +1 more)
Retinitis pigmentosa 73
+1 more
GPathogenic
HGSNAT
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT, LOC130000316
Single nucleotide variant
(synonymous variant +1 more)
Retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT, LOC130000316
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT, LOC130000316
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
(E204*)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis, MPS-III-C
+1 more
GPathogenic
HGSNAT
(S202N)
Indel
(missense variant +1 more)
Mucopolysaccharidosis, MPS-III-C
+1 more
GUncertain significance
HGSNAT
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-C
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
LOC130000316, HGSNAT
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT, LOC130000316
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT, LOC130000316
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
HGSNAT
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 73
+1 more
GLikely benign
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