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Links from MedGen

Items: 1 to 100 of 221

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IDUA
(V419D +1 more)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
GUncertain significance
IDUA
(Q455* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hurler syndrome
+1 more
GPathogenic
IDUA
(Q125*)
Single nucleotide variant
(nonsense +2 more)
Hurler syndrome
GLikely pathogenic
IDUA
Deletion
(intron variant)
Hurler syndrome
GPathogenic
IDUA
(E267del +1 more)
Microsatellite
(inframe_deletion +1 more)
Hurler syndrome
GLikely pathogenic
IDUA
(N218D +1 more)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
+2 more
GUncertain significance
IDUA
(A187E +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GLikely pathogenic
IDUA
(H108N +1 more)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
GUncertain significance
IDUA
Single nucleotide variant
(splice donor variant)
Hurler syndrome
GLikely pathogenic
IDUA
(G197S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
GLikely pathogenic
IDUA, SLC26A1
(H30Q)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis type 1
+3 more
GUncertain significance
SLC26A1, IDUA
(R38C)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis type 1
+3 more
GUncertain significance
IDUA
(N68K +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-I-S
+3 more
GUncertain significance
IDUA
(L114M)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis, MPS-I-S
+3 more
GUncertain significance
IDUA
(L121P)
Single nucleotide variant
(missense variant +2 more)
Hurler syndrome
GLikely pathogenic
IDUA
(E367fs +1 more)
Microsatellite
(frameshift variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GPathogenic
IDUA
(L491P +1 more)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
+1 more
GPathogenic/Likely pathogenic
IDUA
(G498D +1 more)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
GLikely pathogenic
IDUA, SLC26A1
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
IDUA
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
IDUA, SLC26A1
(Q63*)
Single nucleotide variant
(nonsense +3 more)
Hurler syndrome
+1 more
GPathogenic
IDUA
(T234fs +1 more)
Deletion
(frameshift variant +1 more)
Hurler syndrome
+1 more
GPathogenic/Likely pathogenic
IDUA
(R496P +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
+3 more
GPathogenic/Likely pathogenic
IDUA
(P361T +1 more)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
GUncertain significance
IDUA
(E167* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hurler syndrome
+1 more
GPathogenic
IDUA
(W175* +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Mucopolysaccharidosis type 1
+2 more
GPathogenic/Likely pathogenic
IDUA
(A271T +1 more)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
GUncertain significance
IDUA
(G165D +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-I-S
+4 more
GUncertain significance
IDUA
(H262fs +1 more)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis type 1
+4 more
GPathogenic
PITX1
(K138Q)
Single nucleotide variant
(missense variant)
Hurler syndrome
GLikely pathogenic
IDUA
(W494* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hurler syndrome
+3 more
GPathogenic
IDUA
(A292T +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+3 more
GUncertain significance
IDUA
Deletion
(inframe_deletion +2 more)
Hurler syndrome
+3 more
GPathogenic/Likely pathogenic
IDUA
(S423R +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+4 more
GPathogenic/Likely pathogenic
IDUA
(P361R +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-I-H/S
+5 more
GUncertain significance
IDUA
(G334fs +1 more)
Duplication
(frameshift variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GPathogenic
IDUA
(T388fs +1 more)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis type 1
GPathogenic
IDUA
(T285K +1 more)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
GUncertain significance
IDUA
(P450H +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+2 more
GUncertain significance
IDUA
(F130fs)
Deletion
(frameshift variant +2 more)
Hurler syndrome
GLikely pathogenic
IDUA, SLC26A1
(R89W)
Single nucleotide variant
(3 prime UTR variant +3 more)
Mucopolysaccharidosis type 1
+4 more
GPathogenic/Likely pathogenic
IDUA
(T388M +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+2 more
GConflicting classifications of pathogenicity
IDUA
Single nucleotide variant
(non-coding transcript variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GLikely benign
IDUA
(N181fs +1 more)
Duplication
(frameshift variant +1 more)
Mucopolysaccharidosis type 1
+2 more
GPathogenic/Likely pathogenic
IDUA
(E640* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hurler syndrome
GUncertain significance
IDUA
Duplication
(inframe_insertion +1 more)
Hurler syndrome
GUncertain significance
IDUA
(R383H +1 more)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
+2 more
GPathogenic/Likely pathogenic
IDUA
Single nucleotide variant
(splice donor variant)
Hurler syndrome
GLikely pathogenic
IDUA
Single nucleotide variant
(splice donor variant)
Hurler syndrome
+1 more
GLikely pathogenic
IDUA
Single nucleotide variant
(intron variant)
Hurler syndrome
GUncertain significance
SLC26A1, IDUA
(D52fs)
Deletion
(frameshift variant +1 more)
Hurler syndrome
GLikely benign
IDUA
Single nucleotide variant
(splice acceptor variant)
Hurler syndrome
GPathogenic
IDUA
(D349del +1 more)
Deletion
(inframe_deletion +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
IDUA
(N348K +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+2 more
GPathogenic/Likely pathogenic
IDUA
Single nucleotide variant
(splice acceptor variant)
Hurler syndrome
+2 more
GPathogenic/Likely pathogenic
IDUA, SLC26A1
(T104fs)
Deletion
(frameshift variant +1 more)
Hurler syndrome
GLikely benign
IDUA
(G409E +1 more)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
GUncertain significance
IDUA
(Q296fs +1 more)
Duplication
(frameshift variant +1 more)
IDUA-related condition
+2 more
GPathogenic/Likely pathogenic
IDUA
Duplication
(inframe_insertion +1 more)
not provided
+2 more
GUncertain significance
IDUA
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
IDUA
Single nucleotide variant
(splice acceptor variant)
Hurler syndrome
GLikely pathogenic
IDUA
Deletion
(inframe_deletion +1 more)
Hurler syndrome
+2 more
GConflicting classifications of pathogenicity
IDUA
(R363C +1 more)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
+2 more
GConflicting classifications of pathogenicity
SLC26A1, IDUA
(A639fs)
Deletion
(frameshift variant +1 more)
Hurler syndrome
GLikely benign
IDUA, SLC26A1
(M1I)
Single nucleotide variant
(missense variant +3 more)
Mucopolysaccharidosis type 1
+1 more
GLikely pathogenic
IDUA, SLC26A1
Single nucleotide variant
(3 prime UTR variant +2 more)
Hurler syndrome
+1 more
GLikely pathogenic
IDUA, SLC26A1
(I495fs)
Deletion
(frameshift variant +1 more)
Hurler syndrome
GLikely benign
IDUA
Single nucleotide variant
(splice donor variant)
Hurler syndrome
GLikely pathogenic
IDUA
Single nucleotide variant
(splice donor variant)
Mucopolysaccharidosis type 1
+1 more
GPathogenic/Likely pathogenic
IDUA
Single nucleotide variant
(splice acceptor variant)
Hurler syndrome
+3 more
GLikely pathogenic
IDUA
(S633L +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-I-S
+3 more
GPathogenic
IDUA
(T179R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GPathogenic/Likely pathogenic
IDUA
Microsatellite
(inframe_insertion +1 more)
Hurler syndrome
GUncertain significance
IDUA
(G484fs +1 more)
Deletion
(frameshift variant +1 more)
Hurler syndrome
GLikely pathogenic
SLC26A1, IDUA
Duplication
(inframe_insertion +1 more)
Hurler syndrome
GLikely benign
IDUA
(R399fs +1 more)
Deletion
(frameshift variant +1 more)
Hurler syndrome
GLikely pathogenic
IDUA
Deletion
(inframe_deletion +1 more)
Hurler syndrome
GUncertain significance
IDUA
(L387P +1 more)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
GUncertain significance
IDUA
(P385R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
IDUA, SLC26A1
(R635*)
Single nucleotide variant
(nonsense +1 more)
Hurler syndrome
GLikely benign
SLC26A1, IDUA
(Q589*)
Single nucleotide variant
(nonsense +1 more)
Hurler syndrome
GLikely benign
IDUA, SLC26A1
(Y63*)
Single nucleotide variant
(nonsense +1 more)
Hurler syndrome
GLikely benign
IDUA
Single nucleotide variant
(splice acceptor variant)
Hurler syndrome
+1 more
GLikely pathogenic
IDUA, SLC26A1
(L593fs)
Deletion
(frameshift variant +1 more)
Hurler syndrome
+1 more
GUncertain significance
IDUA
Single nucleotide variant
(splice donor variant)
Hurler syndrome
GLikely pathogenic
SLC26A1, IDUA
(R634fs)
Deletion
(frameshift variant +1 more)
Hurler syndrome
GLikely benign
IDUA
(W402* +1 more)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis type 1
+1 more
GPathogenic
IDUA
Single nucleotide variant
(splice donor variant)
Hurler syndrome
GLikely pathogenic
IDUA, SLC26A1
(P545fs)
Duplication
(frameshift variant +1 more)
Hurler syndrome
GLikely benign
IDUA
(Y618* +1 more)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis type 1
+1 more
GPathogenic
SLC26A1, IDUA
(T526fs)
Microsatellite
(frameshift variant +1 more)
Hurler syndrome
GLikely benign
IDUA
(N372S +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GConflicting classifications of pathogenicity
IDUA
(G197D +1 more)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
GUncertain significance
IDUA
(Y638* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hurler syndrome
GUncertain significance
IDUA
Single nucleotide variant
(non-coding transcript variant +1 more)
Hurler syndrome
GUncertain significance
IDUA
(G208D +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+2 more
GPathogenic/Likely pathogenic
IDUA
(T611fs +1 more)
Microsatellite
(frameshift variant +1 more)
Hurler syndrome
GLikely pathogenic
IDUA, SLC26A1
Deletion
(inframe_deletion +1 more)
Hurler syndrome
GLikely benign
IDUA
(Y475fs +1 more)
Duplication
(frameshift variant +1 more)
Mucopolysaccharidosis type 1
+2 more
GPathogenic/Likely pathogenic
IDUA
Deletion
(inframe_deletion +1 more)
Hurler syndrome
GUncertain significance
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