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Links from MedGen

Items: 93

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HGSNAT
Deletion
Sanfilippo syndrome
GLikely pathogenic
GNS
(D385E)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-D
+1 more
GLikely benign
GNS
Single nucleotide variant
(splice acceptor variant)
Mucopolysaccharidosis, MPS-III-D
GLikely pathogenic
GNS
(A233V)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-D
GUncertain significance
GNS
(F226V)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-D
GUncertain significance
GNS
(T54A)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-D
GUncertain significance
GNS
(G383S)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-D
GUncertain significance
GNS
(G540S)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-D
GUncertain significance
HGSNAT
Single nucleotide variant
(splice acceptor variant)
Sanfilippo syndrome
GPathogenic
GNS
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-D
GLikely benign
GNS
(F284L)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-D
GUncertain significance
GNS
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-D
GLikely benign
GNS
Duplication
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-III-D
GUncertain significance
GNS
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-D
GUncertain significance
GNS
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-D
GLikely benign
HGSNAT
(I361fs +2 more)
Duplication
(frameshift variant)
Mucopolysaccharidosis, MPS-III-C
+2 more
GPathogenic
GNS
(R2P)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-D
+1 more
GUncertain significance
GNS
(Y323C)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-D
GUncertain significance
GNS
Single nucleotide variant
(splice donor variant)
Mucopolysaccharidosis, MPS-III-D
GLikely pathogenic
GNS
(T264M)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-D
GUncertain significance
GNS
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-D
GBenign/Likely benign
GNS
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-D
GBenign
GNS
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-D
GLikely benign
GNS
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-D
GLikely benign
GNS
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-D
GLikely benign
GNS
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-D
GLikely benign
GNS
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-D
GLikely benign
GNS
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-D
GLikely benign
GNS
(R193W)
Single nucleotide variant
(missense variant)
GNS-related condition
+1 more
GConflicting classifications of pathogenicity
GNS
(M228V)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-D
GUncertain significance
GNS
(A230T)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-D
GUncertain significance
HGSNAT
(R203*)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis, MPS-III-C
+2 more
GPathogenic
HGSNAT
(S541L +3 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-C
+3 more
GPathogenic/Likely pathogenic
HGSNAT
(G424S +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-C
+2 more
GConflicting classifications of pathogenicity
HGSNAT
(W316* +1 more)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis, MPS-III-C
+2 more
GPathogenic/Likely pathogenic
HGSNAT
(R506* +3 more)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis, MPS-III-C
+3 more
GPathogenic
HGSNAT
(R384* +2 more)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis, MPS-III-C
+3 more
GPathogenic
GNS
Deletion
(intron variant)
not specified
+1 more
GBenign/Likely benign
NAGLU
(R533*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis, MPS-III-B
+4 more
GPathogenic/Likely pathogenic
GNS
(R421H)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-D
+1 more
GUncertain significance
HGSNAT
(R247fs)
Deletion
(frameshift variant +1 more)
Sanfilippo syndrome
+3 more
GPathogenic
GNS
(L26P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HGSNAT
(G423W +2 more)
Single nucleotide variant
(missense variant)
Sanfilippo syndrome
+4 more
GConflicting classifications of pathogenicity
SGSH
(R233*)
Single nucleotide variant
(nonsense +1 more)
Sanfilippo syndrome
+3 more
GPathogenic/Likely pathogenic
HGSNAT
Duplication
(3 prime UTR variant)
Sanfilippo syndrome
GUncertain significance
HGSNAT
Deletion
(3 prime UTR variant)
Sanfilippo syndrome
GUncertain significance
HGSNAT
(P413S +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-C
+4 more
GConflicting classifications of pathogenicity
HGSNAT, LOC130000316
Single nucleotide variant
Sanfilippo syndrome
GUncertain significance
LOC130061900, SGSH
Single nucleotide variant
Sanfilippo syndrome
+1 more
GUncertain significance
SGSH
Deletion
(intron variant)
Sanfilippo syndrome
+1 more
GConflicting classifications of pathogenicity
SGSH
(R443Q)
Single nucleotide variant
(missense variant +2 more)
Sanfilippo syndrome
+2 more
GConflicting classifications of pathogenicity
NAGLU
Deletion
(3 prime UTR variant)
Sanfilippo syndrome
GUncertain significance
LOC130060903, NAGLU
Single nucleotide variant
Sanfilippo syndrome
GUncertain significance
LOC130060903, NAGLU
Single nucleotide variant
Sanfilippo syndrome
GUncertain significance
LOC130060903, NAGLU
Single nucleotide variant
Sanfilippo syndrome
GUncertain significance
NAGLU
Single nucleotide variant
Sanfilippo syndrome
+1 more
GBenign/Likely benign
NAGLU
Single nucleotide variant
Sanfilippo syndrome
GUncertain significance
NAGLU
Single nucleotide variant
Sanfilippo syndrome
+1 more
GConflicting classifications of pathogenicity
NAGLU
Single nucleotide variant
Sanfilippo syndrome
+1 more
GLikely benign
NAGLU
Single nucleotide variant
Sanfilippo syndrome
GUncertain significance
NAGLU
Single nucleotide variant
Sanfilippo syndrome
GUncertain significance
LOC130060902, NAGLU
Single nucleotide variant
Sanfilippo syndrome
GUncertain significance
LOC130060902, NAGLU
Single nucleotide variant
Sanfilippo syndrome
GUncertain significance
GNS
Duplication
Sanfilippo syndrome
GUncertain significance
GNS
Single nucleotide variant
Sanfilippo syndrome
GUncertain significance
GNS
Microsatellite
(5 prime UTR variant)
Sanfilippo syndrome
GUncertain significance
GNS
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-D
GConflicting classifications of pathogenicity
GNS
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-III-D
GConflicting classifications of pathogenicity
GNS
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-III-D
+2 more
GBenign
GNS
Single nucleotide variant
(3 prime UTR variant)
Sanfilippo syndrome
GUncertain significance
GNS
Deletion
(3 prime UTR variant)
Sanfilippo syndrome
GUncertain significance
GNS
Duplication
(3 prime UTR variant)
Sanfilippo syndrome
GLikely benign
GNS
Deletion
(3 prime UTR variant)
Sanfilippo syndrome
GUncertain significance
GNS
Duplication
(3 prime UTR variant)
Sanfilippo syndrome
GLikely benign
GNS
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
SGSH
(V379fs)
Deletion
(frameshift variant +2 more)
not provided
+2 more
GPathogenic
HGSNAT
(E471K +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
GNS
(R533H)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
SGSH
(L343fs)
Duplication
(frameshift variant +2 more)
Sanfilippo syndrome
+3 more
GPathogenic/Likely pathogenic
GNS
(R2W)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
HGSNAT
Single nucleotide variant
(splice donor variant)
not provided
+4 more
GPathogenic/Likely pathogenic
GNS
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
GNS
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
HGSNAT
Single nucleotide variant
(splice donor variant)
Mucopolysaccharidosis, MPS-III-C
+4 more
GPathogenic
NAGLU
(R565Q)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-B
+3 more
GPathogenic
SGSH
(S298P)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
SGSH, SLC26A11
(S66W)
Single nucleotide variant
(missense variant +1 more)
Sanfilippo syndrome
+4 more
GPathogenic
CARD14, SGSH
(R245H)
Single nucleotide variant
(missense variant +1 more)
Sanfilippo syndrome
+4 more
GPathogenic
HGSNAT
(R344C +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 73
+4 more
GConflicting classifications of pathogenicity
HGSNAT
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 73
+2 more
GPathogenic
HGSNAT
(M482K +2 more)
Single nucleotide variant
(missense variant)
Sanfilippo syndrome
+2 more
GLikely pathogenic
HGSNAT
(P283L)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 73
+4 more
GPathogenic/Likely pathogenic
HGSNAT
Single nucleotide variant
(splice donor variant)
Sanfilippo syndrome
+3 more
GPathogenic
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