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Links from MedGen

Items: 1 to 100 of 1019

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SUMF1
(D248N +1 more)
Single nucleotide variant
(missense variant)
Hereditary leiomyomatosis and renal cell cancer
+1 more
GLikely pathogenic
SGSH
(P128fs)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely pathogenic
SGSH
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
(Q93*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis, MPS-III-A
GPathogenic
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
(F278fs)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GPathogenic
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
(L17fs)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GPathogenic
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
(E447G)
Single nucleotide variant
(3 prime UTR variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GLikely pathogenic
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
(N62D)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GUncertain significance
SGSH
(Q449*)
Single nucleotide variant
(3 prime UTR variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GPathogenic
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Deletion
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
(W423*)
Single nucleotide variant
(nonsense +2 more)
Mucopolysaccharidosis, MPS-III-A
GPathogenic
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Microsatellite
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
(G200*)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis, MPS-III-A
GPathogenic
SGSH
Deletion
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Deletion
(inframe_deletion +1 more)
Mucopolysaccharidosis, MPS-III-A
GPathogenic
SGSH
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
(H446fs)
Deletion
(frameshift variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GPathogenic
SGSH
(P108L)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-A
GUncertain significance
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(non-coding transcript variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
(D235H)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely pathogenic
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Deletion
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Deletion
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
(L109fs)
Duplication
(frameshift variant)
Mucopolysaccharidosis, MPS-III-A
GPathogenic
SGSH
(S378fs)
Deletion
(frameshift variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GPathogenic
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
(R245S)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely pathogenic
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
(R304P)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GUncertain significance
SGSH
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
(D235Y)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely pathogenic
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
SGSH
(G418A)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GUncertain significance
SGSH
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-A
GLikely benign
Display optionsSort by RelevanceDownload
Format
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