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Items: 1 to 100 of 122

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR138-2, MIR140
+1738 more
Copy number gain
See cases
GPathogenic
LOC130059829, LOC130059830
+1429 more
Copy number gain
See cases
GPathogenic
LOC108281164, LOC109029536
+1426 more
Copy number gain
See cases
GPathogenic
LOC130059834, LOC130059835
+1424 more
Copy number gain
See cases
GPathogenic
LOC130059850, LOC130059851
+1041 more
Copy number gain
See cases
GPathogenic
PKD1L2, PKD1L3
+1031 more
Copy number gain
See cases
GPathogenic
LOC130059772, LOC130059773
+832 more
Copy number gain
See cases
GPathogenic
LOC132090418, LOC132090419
+788 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+781 more
Copy number gain
See cases
GPathogenic
LOC130059746, LOC130059747
+719 more
Copy number gain
See cases
GPathogenic
LOC130059500, LOC130059501
+691 more
Copy number gain
See cases
GPathogenic
LOC132090448, LOC132090449
+677 more
Copy number gain
See cases
GPathogenic
LOC130059591, LOC130059592
+670 more
Copy number gain
See cases
GPathogenic
LOC130059691, LOC130059692
+566 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+531 more
Copy number gain
See cases
GLikely pathogenic
ACSF3, ADAD2
+534 more
Copy number gain
See cases
GLikely pathogenic
ACSF3, ANKRD11
+420 more
Copy number gain
See cases
GPathogenic
ACSF3, ANKRD11
+210 more
Copy number loss
See cases
GPathogenic
LOC121587566, LOC121587567
+218 more
Deletion
KBG syndrome
GPathogenic
ACSF3, ANKRD11
+196 more
Copy number loss
See cases
GPathogenic
ACSF3, ANKRD11
+268 more
Copy number gain
See cases
GLikely pathogenic
ACSF3, ANKRD11
+267 more
Copy number gain
See cases
GPathogenic
ACSF3, ANKRD11
+160 more
Copy number loss
See cases
GPathogenic
LOC130059772, LOC130059773
+138 more
Deletion
KBG syndrome
GPathogenic
ACSF3, ANKRD11
+116 more
Deletion
KBG syndrome
GPathogenic
LOC130059760, LOC130059761
+129 more
Copy number loss
See cases
GPathogenic
ACSF3, ANKRD11
+113 more
Copy number loss
See cases
GPathogenic
GALNS, LOC126862447
+4 more
Deletion
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS, LOC126862447
+4 more
Deletion
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
ACSF3, ANKRD11
+77 more
Copy number loss
See cases
GPathogenic
GALNS, LOC130059762
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
GALNS, LOC130059762
+1 more
Deletion
(intron variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
LOC130059762, GALNS
+1 more
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
Deletion
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS, LOC130059762
+1 more
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
GALNS, LOC130059762
+1 more
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-IV-A
GBenign
GALNS, LOC130059762
+1 more
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
TRAPPC2L, LOC130059762
+1 more
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
Single nucleotide variant
(splice donor variant)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
TRAPPC2L, GALNS
+1 more
Single nucleotide variant
(splice donor variant)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS, LOC130059762
+1 more
(D40G)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
(D40Y)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
(D40N)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GConflicting classifications of pathogenicity
GALNS, LOC130059762
+1 more
(D40H)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS, LOC130059762
+1 more
(D39fs)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS, LOC130059762
+1 more
(D39G)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic/Likely pathogenic
GALNS, LOC130059762
+1 more
(D39Y)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
GALNS, LOC130059762
+1 more
(M38R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GALNS, LOC130059762
+1 more
(M38L)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
Microsatellite
(inframe_deletion +1 more)
Morquio syndrome
+2 more
GConflicting classifications of pathogenicity
GALNS, LOC130059762
+1 more
(L36P)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
(L36R)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic/Likely pathogenic
GALNS, LOC130059762
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
GALNS, LOC130059762
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
(L34V)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
(I33V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
(N32T)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GConflicting classifications of pathogenicity
GALNS, LOC130059762
+1 more
(N32D)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
(N32fs)
Deletion
(frameshift variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS, LOC130059762
+1 more
Deletion
(genic upstream transcript variant)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS, LOC130059762
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
(P30L)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
(Q29*)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS, LOC130059762
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
(A27fs)
Duplication
(frameshift variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic/Likely pathogenic
GALNS, LOC130059762
+1 more
(G26D)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
(G23R)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
(M22I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GALNS, LOC130059762
+1 more
(M22I)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
(S18T)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
(V16G)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
TRAPPC2L, GALNS
+1 more
(V16E)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
(V16L)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
(L15M)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS, LOC130059762
+1 more
(Q12*)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
GALNS, LOC130059762
+1 more
(W11R)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
(W10*)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS, LOC130059762
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
LOC130059762, TRAPPC2L
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
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