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Links from MedGen

Items: 77

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IDUA
(E119fs +1 more)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis, MPS-I-H/S
GLikely pathogenic
IDUA
(L250* +1 more)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis, MPS-I-H/S
GLikely pathogenic
IDUA
(Q418fs +1 more)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis, MPS-I-H/S
GLikely pathogenic
IDUA
(G222fs +1 more)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis, MPS-I-H/S
GLikely pathogenic
IDUA
(D119fs)
Deletion
(frameshift variant +2 more)
Mucopolysaccharidosis, MPS-I-H/S
GLikely pathogenic
IDUA, SLC26A1
(A9fs)
Deletion
(frameshift variant +2 more)
Mucopolysaccharidosis, MPS-I-H/S
GLikely pathogenic
IDUA
(K174* +1 more)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis, MPS-I-H/S
GLikely pathogenic
IDUA
(N241fs +1 more)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis, MPS-I-H/S
GLikely pathogenic
IDUA, SLC26A1
(K86*)
Single nucleotide variant
(3 prime UTR variant +3 more)
Mucopolysaccharidosis, MPS-I-H/S
GLikely pathogenic
IDUA
(S206* +1 more)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis, MPS-I-H/S
GLikely pathogenic
IDUA
(E119fs +1 more)
Duplication
(frameshift variant +1 more)
Mucopolysaccharidosis, MPS-I-H/S
GLikely pathogenic
IDUA
Insertion
(nonsense +1 more)
Mucopolysaccharidosis, MPS-I-H/S
GLikely pathogenic
IDUA
(L386fs +1 more)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis, MPS-I-H/S
GLikely pathogenic
IDUA, SLC26A1
(A15fs)
Deletion
(frameshift variant +2 more)
Mucopolysaccharidosis, MPS-I-H/S
GLikely pathogenic
IDUA
(E151fs +1 more)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis, MPS-I-H/S
GLikely pathogenic
IDUA
(T227fs +1 more)
Indel
(frameshift variant +1 more)
Mucopolysaccharidosis, MPS-I-H/S
GLikely pathogenic
IDUA, SLC26A1
(H30Q)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis, MPS-I-S
+3 more
GUncertain significance
IDUA, SLC26A1
(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
Single nucleotide variant
(splice donor variant)
Mucopolysaccharidosis type 1
+2 more
GPathogenic
IDUA, SLC26A1
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
IDUA
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
IDUA
(V172fs +1 more)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis type 1
GPathogenic
IDUA
(Y202* +1 more)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis, MPS-I-H/S
+1 more
GPathogenic/Likely pathogenic
IDUA
(T234fs +1 more)
Deletion
(frameshift variant +1 more)
Hurler syndrome
+1 more
GPathogenic/Likely pathogenic
IDUA
(W180* +1 more)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis, MPS-I-H/S
GLikely pathogenic
IDUA
(W175* +1 more)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis type 1
+2 more
GPathogenic/Likely pathogenic
IDUA
(Q147* +1 more)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis type 1
+1 more
GPathogenic/Likely pathogenic
IDUA
(W355* +1 more)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis, MPS-I-H/S
GLikely pathogenic
IDUA
(Q275* +1 more)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis, MPS-I-H/S
GLikely pathogenic
IDUA
(G165D +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GUncertain significance
IDUA
(H262fs +1 more)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis type 1
+4 more
GPathogenic
IDUA
(H108R +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GPathogenic/Likely pathogenic
IDUA, SLC26A1
(V319M)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-I-H/S
GBenign
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
(C205* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
IDUA
(P361R +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+5 more
GUncertain significance
IDUA, SLC26A1
(R89W)
Single nucleotide variant
(3 prime UTR variant +3 more)
Mucopolysaccharidosis type 1
+4 more
GPathogenic/Likely pathogenic
IDUA
(L526P +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-I-H/S
+2 more
GConflicting classifications of pathogenicity
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
Single nucleotide variant
(splice acceptor variant)
Mucopolysaccharidosis, MPS-I-H/S
+2 more
GPathogenic/Likely pathogenic
IDUA, SLC26A1
(F52L)
Single nucleotide variant
(missense variant +2 more)
Hurler syndrome
+2 more
GUncertain significance
IDUA
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis type 1
+1 more
GConflicting classifications of pathogenicity
IDUA
(R621G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
IDUA, SLC26A1
Single nucleotide variant
(genic upstream transcript variant +2 more)
Mucopolysaccharidosis type 1
+3 more
GUncertain significance
IDUA
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign
IDUA
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign
IDUA
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign
IDUA
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
IDUA
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign
IDUA
(L218P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic
IDUA
Single nucleotide variant
(splice acceptor variant)
Hurler syndrome
+3 more
GPathogenic
IDUA, SLC26A1
(G51D)
Single nucleotide variant
(missense variant +2 more)
Hurler syndrome
+4 more
GPathogenic
IDUA
(H539fs +1 more)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis type 1
+4 more
GPathogenic
IDUA, SLC26A1
(H33Q)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis, MPS-I-S
+5 more
GBenign
IDUA
Single nucleotide variant
(synonymous variant +1 more)
not specified
+5 more
GBenign
IDUA
Single nucleotide variant
(synonymous variant +1 more)
not specified
+6 more
GBenign/Likely benign
IDUA
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
IDUA
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GBenign
IDUA
Single nucleotide variant
(synonymous variant +2 more)
not specified
+5 more
GBenign
IDUA
(R105Q)
Single nucleotide variant
(missense variant +2 more)
not provided
+5 more
GBenign
IDUA
(V454I +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+5 more
GBenign
IDUA
(L346R +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GPathogenic
IDUA
(T364M +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GPathogenic
IDUA
(R619G +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis type 1
+1 more
GConflicting classifications of pathogenicity
IDUA, SLC26A1
(R89Q)
Single nucleotide variant
(3 prime UTR variant +3 more)
Mucopolysaccharidosis type 1
GPathogenic
IDUA
Single nucleotide variant
(stop lost +1 more)
Mucopolysaccharidosis type 1
GPathogenic
IDUA
(L490P +1 more)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
+2 more
GPathogenic/Likely pathogenic
IDUA
(R621* +1 more)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis type 1
+4 more
GPathogenic
IDUA
(P533R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hurler syndrome
+5 more
GPathogenic
IDUA, SLC26A1
(Q70*)
Single nucleotide variant
(3 prime UTR variant +3 more)
Mucopolysaccharidosis
+7 more
GPathogenic
IDUA
(W402* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hurler syndrome
+8 more
GPathogenic
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