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Items: 81

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC125467786, LOC125467787
+1203 more
Copy number loss
See cases
GPathogenic
MIR2114, MIR224
+718 more
Copy number gain
See cases
GPathogenic
AFF2, ATP11C
+135 more
Copy number loss
See cases
GPathogenic
AFF2, EOLA1
+74 more
Copy number loss
See cases
GPathogenic
EOLA1-DT, IDS
+7 more
Copy number gain
See cases
GUncertain significance
EOLA1, EOLA1-DT
+16 more
Copy number gain
See cases
GUncertain significance
IDS
Duplication
(3 prime UTR variant)
not provided
GLikely benign
IDS
Deletion
(3 prime UTR variant)
not provided
GBenign
IDS
(T410I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
IDS
(T404I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDS
(M398V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDS
(I397V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDS
(P383L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IDS
(P383S +1 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-II
+1 more
GUncertain significance
IDS
(S380L +1 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-II
+1 more
GUncertain significance
IDS
(P379A +1 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-II
+1 more
GUncertain significance
IDS
(Q465K +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
IDS
(Q465* +1 more)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis, MPS-II
+1 more
GPathogenic
IDS
(H351Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDS
Single nucleotide variant
(intron variant)
not provided
GBenign
IDS, LOC106050102
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC106050102, IDS
Single nucleotide variant
(synonymous variant)
Mucopolysaccharidosis, MPS-II
+1 more
GPathogenic/Likely pathogenic
IDS, LOC106050102
(G284V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IDS, LOC106050102
(V267A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDS, LOC106050102
(S349N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IDS, LOC106050102
(G343R +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
IDS, LOC106050102
Single nucleotide variant
(splice acceptor variant)
Mucopolysaccharidosis, MPS-II
+1 more
GPathogenic/Likely pathogenic
IDS, LOC106050102
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC106050102, IDS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDS, LOC106050102
Single nucleotide variant
(intron variant)
not provided
GBenign
IDS, LOC106050102
(H245R +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-II
+1 more
GPathogenic/Likely pathogenic
IDS, LOC106050102
(S333L +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-II
+1 more
GPathogenic
IDS, LOC106050102
(D230H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDS, LOC106050102
(G312S +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-II
+2 more
GConflicting classifications of pathogenicity
IDS, LOC106050102
Copy number loss
See cases
GUncertain significance
IDS, LOC106050102
(D269V +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-II
+2 more
GLikely pathogenic
IDS, LOC106050102
(P171S +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-II
+1 more
GUncertain significance
IDS, LOC106050102
Deletion
(intron variant)
not provided
GBenign
IDS, LOC106050102
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC106050102, IDS
(I230F +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-II
+1 more
GPathogenic/Likely pathogenic
IDS, LOC106050102
(V133F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDS, LOC106050102
(V223I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
LOC106050102, IDS
(T214M +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-II
+3 more
GConflicting classifications of pathogenicity
IDS, LOC106050102
(R172* +1 more)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis, MPS-II
+2 more
GPathogenic
IDS, LOC106050102
Deletion
(intron variant)
not provided
GBenign
IDS, LOC106050102
(F155L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
IDS, LOC106050102
(S149A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
IDS, LOC106050102
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-II
+3 more
GBenign
LOC106050102, IDS
Duplication
(intron variant)
Mucopolysaccharidosis, MPS-II
+1 more
GConflicting classifications of pathogenicity
IDS, LOC106050102
Deletion
(intron variant)
Mucopolysaccharidosis, MPS-II
+1 more
GBenign/Likely benign
IDS, LOC106050102
Duplication
(intron variant)
not provided
GBenign
IDS, LOC106050102
Single nucleotide variant
(intron variant)
not provided
GBenign
IDS
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-II
+2 more
GConflicting classifications of pathogenicity
IDS
(Y122D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IDS
(R110G +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-II
+1 more
GPathogenic/Likely pathogenic
IDS
(Y108H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDS
(R88C)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis, MPS-II
+1 more
GPathogenic
IDS
Single nucleotide variant
(intron variant)
not provided
GBenign
IDS
Duplication
(intron variant)
not provided
GBenign
IDS
(V39I)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
IDS
(D35V)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
IDS
Single nucleotide variant
(intron variant)
not provided
GBenign
IDS
(T34I)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
IDS
(T34A)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ABCB7, ABCD1
+819 more
Copy number gain
See cases
GPathogenic
TMEM255A, TMEM31
+819 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+503 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+783 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+818 more
Copy number gain
See cases
GPathogenic
ABCD1, AFF2
+130 more
Copy number gain
See cases
GPathogenic
PNMA3, PLP1
+818 more
Copy number gain
See cases
GPathogenic
CETN2, CLIC2
+222 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+503 more
Copy number gain
See cases
GPathogenic
MAGEB4, MAGEB5
+818 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+819 more
Copy number loss
See cases
GPathogenic
RPS6KA3, RPS6KA6
+819 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+818 more
Copy number gain
See cases
GPathogenic
RRAGB, RS1
+819 more
Copy number gain
See cases
GPathogenic
ARL13A, ARMCX1
+818 more
Copy number gain
See cases
GPathogenic
HDAC6, HTATSF1
+818 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+819 more
Copy number gain
See cases
GPathogenic
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