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Items: 1 to 100 of 439

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APRT, CDT1
+11 more
Deletion
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
APRT, CDT1
+11 more
Deletion
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
APRT, GALNS
+2 more
Deletion
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS, LOC126862447
Deletion
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS, LOC126862447
+4 more
Deletion
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GALNS
Single nucleotide variant
(stop lost)
Mucopolysaccharidosis, MPS-IV-A
GConflicting classifications of pathogenicity
GALNS
Single nucleotide variant
(stop lost)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
Single nucleotide variant
(stop lost)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic/Likely pathogenic
GALNS
(W335* +2 more)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(W520* +2 more)
Single nucleotide variant
(nonsense)
Morquio syndrome
+2 more
GPathogenic/Likely pathogenic
GALNS
(W520R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALNS
(L323P +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(C507F +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GALNS
(C322R +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GConflicting classifications of pathogenicity
GALNS
(K318fs +2 more)
Deletion
(frameshift variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
GALNS
(C316S +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GConflicting classifications of pathogenicity
GALNS
(G315C +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(G315S +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GConflicting classifications of pathogenicity
GALNS
(P314L +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(P498L +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GConflicting classifications of pathogenicity
GALNS
(P313S +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(N495K +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GConflicting classifications of pathogenicity
GALNS
(N310Y +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GConflicting classifications of pathogenicity
GALNS
Single nucleotide variant
(splice acceptor variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
GALNS
Single nucleotide variant
(splice acceptor variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
GALNS
Single nucleotide variant
(splice acceptor variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
GALNS
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-IV-A
GConflicting classifications of pathogenicity
GALNS, LOC126862447
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC126862447
Single nucleotide variant
(splice donor variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
LOC126862447, GALNS
(M309V +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GConflicting classifications of pathogenicity
GALNS, LOC126862447
(A492T +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GConflicting classifications of pathogenicity
GALNS, LOC126862447
(V488M +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
GALNS, LOC126862447
(N302K +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC126862447
(N302I +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC126862447
(N487S +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GConflicting classifications of pathogenicity
LOC126862447, GALNS
Deletion
(inframe_deletion)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC126862447
(P299L +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC126862447
(P299S +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GConflicting classifications of pathogenicity
GALNS, LOC126862447
(Q298* +2 more)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
LOC126862447, GALNS
(V480F +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
+2 more
GBenign/Likely benign
GALNS, LOC126862447
(Q291P +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC126862447
(H290N +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC126862447
(Q289* +2 more)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS, LOC126862447
(Q473* +2 more)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS, LOC126862447
(S285P +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC126862447
Single nucleotide variant
(splice acceptor variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
GALNS
Deletion
(splice acceptor variant +2 more)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS
Single nucleotide variant
(splice donor variant)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS
(L269P +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(L269fs +2 more)
Duplication
(frameshift variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
GALNS
(F267L +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(F452I +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALNS
(E265G +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(E265V +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(G260E +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(L255fs +2 more)
Deletion
(frameshift variant)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS
(H245fs +2 more)
Microsatellite
(frameshift variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
GALNS
(V242fs +2 more)
Deletion
(frameshift variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
GALNS
(Q237* +2 more)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS
(Q237K +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(G236E +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(G236R +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(P235R +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GConflicting classifications of pathogenicity
GALNS
(P235fs +2 more)
Deletion
(frameshift variant)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS
(P235S +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(I416T +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
GALNS
(G230V +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
Single nucleotide variant
(splice acceptor variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
GALNS
Single nucleotide variant
(splice acceptor variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
GALNS
(Q229* +2 more)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS
(W224S +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(N222K +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(N407H +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GConflicting classifications of pathogenicity
GALNS
Microsatellite
(inframe_deletion)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(W220* +2 more)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
GALNS
(W220* +2 more)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
GALNS
Indel
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(H216Y +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(K214R +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GConflicting classifications of pathogenicity
GALNS
(K214fs +2 more)
Deletion
(frameshift variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
GALNS
(H213D +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(H213fs +2 more)
Deletion
(frameshift variant)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS
(Q212fs +2 more)
Deletion
(frameshift variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
GALNS
(L210P +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(L210V +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(T209P +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(A208fs +2 more)
Insertion
(frameshift variant)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS
(A393del +2 more)
Microsatellite
(inframe_deletion)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GConflicting classifications of pathogenicity
GALNS
(A393S +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
GALNS
(A392V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GALNS
(M391V +2 more)
Single nucleotide variant
(missense variant)
Morquio syndrome
+2 more
GPathogenic
GALNS
(L205P +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GConflicting classifications of pathogenicity
GALNS
Deletion
(nonsense)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS
(D388E +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GConflicting classifications of pathogenicity
GALNS
(D203N +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic/Likely pathogenic
GALNS
(G202S +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(R201H +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GConflicting classifications of pathogenicity
GALNS
(R201S +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(R386C +2 more)
Single nucleotide variant
(missense variant)
Morquio syndrome
+2 more
GPathogenic/Likely pathogenic
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