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Items: 56

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
(C507F +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GALNS
(G505R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GALNS, LOC126862447
(V488M +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
LOC126862447, GALNS
(V480F +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
+2 more
GBenign/Likely benign
GALNS, LOC126862447
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
GALNS, LOC126862447
(Q474P +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GALNS, LOC126862447
Single nucleotide variant
(synonymous variant)
GALNS-related condition
+2 more
GBenign
GALNS
(F452I +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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
(R386C +2 more)
Single nucleotide variant
(missense variant)
Morquio syndrome
+2 more
GPathogenic/Likely pathogenic
GALNS
(R376Q +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
+2 more
GConflicting classifications of pathogenicity
GALNS
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALNS
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
GALNS
(M318R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic
GALNS
Indel
(splice acceptor variant)
not provided
GPathogenic
GALNS
(G301C +2 more)
Single nucleotide variant
(missense variant)
Morquio syndrome
+2 more
GPathogenic
GALNS
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALNS
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
GALNS
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
GALNS
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
GALNS
(G247D +2 more)
Single nucleotide variant
(missense variant)
Morquio syndrome
+2 more
GConflicting classifications of pathogenicity
GALNS
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
GALNS
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
GALNS
(H236R +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
GALNS
(T235K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GALNS
(A231G +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
GALNS
(R222Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALNS
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
GALNS
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
GALNS
(T200M +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
GALNS
(Y190C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALNS
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
GALNS
(S162F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
GALNS
(W159* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
GALNS
(G155R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
GALNS
Deletion
(splice donor variant)
GALNS-related condition
+2 more
GPathogenic
GALNS
(W141R +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GConflicting classifications of pathogenicity
GALNS
(G139S +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
+2 more
GPathogenic
GALNS
(I113F +1 more)
Single nucleotide variant
(missense variant +1 more)
Morquio syndrome
+2 more
GPathogenic/Likely pathogenic
GALNS
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALNS
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
GALNS
(R94H +1 more)
Single nucleotide variant
(missense variant +1 more)
Morquio syndrome
+2 more
GConflicting classifications of pathogenicity
GALNS
(G89V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GALNS
(S82L +1 more)
Single nucleotide variant
(missense variant +1 more)
Morquio syndrome
+2 more
GConflicting classifications of pathogenicity
GALNS
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
GALNS
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
GALNS
(Y73C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GALNS
(L67M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign
GALNS
(G47R +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
+2 more
GPathogenic/Likely pathogenic
GALNS, LOC130059762
+1 more
Microsatellite
(inframe_deletion +1 more)
Morquio syndrome
+2 more
GConflicting classifications of pathogenicity
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