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Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARSB, LOC129994126
Deletion
(splice donor variant)
Mucopolysaccharidosis type 6
GPathogenic
ARSB, LOC129994126
(Q104H)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB, LOC129994126
(R102H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
ARSB, LOC129994126
(L98R)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB, LOC129994126
(L98P)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB, LOC129994126
(L98Q)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB, LOC129994126
(Q97*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB, LOC129994126
(S96R)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
+1 more
GConflicting classifications of pathogenicity
ARSB, LOC129994126
(R95Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ARSB, LOC129994126
(P93L)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB, LOC129994126
(P93S)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB, LOC129994126
(T92M)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB, LOC129994126
(T92K)
Single nucleotide variant
(missense variant)
ARSB-related condition
+1 more
GConflicting classifications of pathogenicity
ARSB, LOC129994126
(C91fs)
Deletion
(frameshift variant)
Mucopolysaccharidosis type 6
GPathogenic
ARSB, LOC129994126
(C91Y)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB, LOC129994126
(C91R)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB, LOC129994126
(Q88H)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB, LOC129994126
(P89fs)
Duplication
(frameshift variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB, LOC129994126
(Q88*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis type 6
GPathogenic
ARSB, LOC129994126
(T87R)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB, LOC129994126
(Y85H)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB, LOC129994126
(D83fs)
Deletion
(frameshift variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB, LOC129994126
(D83Y)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
ARSB, LOC129994126
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB, LOC129994126
(L82fs)
Deletion
(frameshift variant)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB, LOC129994126
(L82R)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB, LOC129994126
(V80fs)
Deletion
(frameshift variant)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB, LOC129994126
(V80fs)
Deletion
(frameshift variant)
Mucopolysaccharidosis type 6
GPathogenic
ARSB, LOC129994126
(G79E)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB, LOC129994126
(L75fs)
Deletion
(frameshift variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB, LOC129994126
(D73fs)
Deletion
(frameshift variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB, LOC129994126
(L72R)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB, LOC129994126
(L72P)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB, LOC129994126
(P70fs)
Deletion
(frameshift variant)
Mucopolysaccharidosis type 6
GPathogenic
LOC129994126, ARSB
(L72Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ARSB, LOC129994126
(L72fs)
Duplication
(frameshift variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB, LOC129994126
(T69M)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GConflicting classifications of pathogenicity
ARSB, LOC129994126
(S65F)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB, LOC129994126
(D59V)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB, LOC129994126
(D59N)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ARSB, LOC129994126
(W57C)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB, LOC129994126
(G56D)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GUncertain significance
ARSB, LOC129994126
(D54N)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB, LOC129994126
(D53N)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB, LOC129994126
(L50*)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis type 6
GLikely pathogenic
LOC129994126, ARSB
(A39fs)
Deletion
(frameshift variant)
Mucopolysaccharidosis type 6
GPathogenic
LOC129994126, ARSB
Deletion
(inframe_deletion)
not specified
+2 more
GBenign/Likely benign
ARSB, LOC129994126
(S37fs)
Deletion
(frameshift variant)
Mucopolysaccharidosis type 6
GPathogenic/Likely pathogenic
ARSB, LOC129994126
(A39fs)
Deletion
(frameshift variant)
Mucopolysaccharidosis type 6
GLikely pathogenic
ARSB, LOC129994126
(A33V)
Single nucleotide variant
(missense variant)
ARSB-related condition
+3 more
GBenign/Likely benign
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