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Items: 1 to 100 of 1359

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130059149, LOC130059150
+1738 more
Copy number gain
See cases
GPathogenic
LOC130059618, LOC130059619
+1429 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+1426 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+1424 more
Copy number gain
See cases
GPathogenic
HSBP1, HSD17B2
+1041 more
Copy number gain
See cases
GPathogenic
LOC126862439, LOC126862440
+1031 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+832 more
Copy number gain
See cases
GPathogenic
LOC130059708, LOC130059709
+788 more
Copy number gain
See cases
GPathogenic
LINC01081, LINC01082
+781 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+719 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+691 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+677 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+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
APRT, CDT1
+11 more
Deletion
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
APRT, CDT1
+11 more
Deletion
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
APRT, GALNS
Single nucleotide variant
(3 prime UTR variant)
Adenine phosphoribosyltransferase deficiency
+1 more
GConflicting classifications of pathogenicity
GALNS, APRT
Single nucleotide variant
(3 prime UTR variant)
Adenine phosphoribosyltransferase deficiency
+2 more
GBenign
APRT, GALNS
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GLikely benign
APRT, GALNS
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
APRT, GALNS
+2 more
Deletion
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
APRT, GALNS
Single nucleotide variant
(synonymous variant)
Morquio syndrome
+2 more
GBenign/Likely benign
APRT, GALNS
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
APRT, GALNS
+1 more
Single nucleotide variant
Adenine phosphoribosyltransferase deficiency
+2 more
GBenign/Likely benign
GALNS, LOC126862447
Deletion
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS, LOC126862447
+4 more
Deletion
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
APRT, GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
+2 more
GBenign
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
APRT, GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
+2 more
GBenign
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
APRT, GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
+2 more
GBenign
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
APRT, GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
+2 more
GBenign/Likely benign
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
APRT, GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
+3 more
GBenign
APRT, GALNS
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GUncertain significance
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
+2 more
GConflicting classifications of pathogenicity
APRT, GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
+3 more
GBenign/Likely benign
GALNS, APRT
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GUncertain significance
GALNS
Single nucleotide variant
(3 prime UTR variant)
Morquio syndrome
GUncertain significance
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GUncertain significance
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, APRT
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
+4 more
GBenign
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC126862447
+4 more
Deletion
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS
Single nucleotide variant
(3 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
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
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS
(W335* +2 more)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(W520* +2 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
GALNS
(W520R +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GConflicting classifications of pathogenicity
GALNS
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS
(L334F +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS
(I329V +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS
(P326S +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
(P511A +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS
(T324I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GALNS
(L323P +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely benign
GALNS
(C507F +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GUncertain significance
GALNS
(C322R +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GConflicting classifications of pathogenicity
GALNS
(K321fs +2 more)
Deletion
(frameshift variant)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS
(G505R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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