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Items: 1 to 100 of 863

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063246, LOC130063247
+810 more
Copy number gain
See cases
GPathogenic
LOC130063389, LOC130063390
+75 more
Copy number gain
See cases
GUncertain significance
LOC130063376, MCOLN1
Deletion
Mucolipidosis type IV
GPathogenic
LOC130063376, MCOLN1
Deletion
Mucolipidosis type IV
GPathogenic
MCOLN1
Single nucleotide variant
not provided
GLikely benign
MCOLN1
Single nucleotide variant
not provided
GBenign
MCOLN1
Single nucleotide variant
(5 prime UTR variant)
Mucolipidosis type IV
GUncertain significance
LOC130063376, MCOLN1
Single nucleotide variant
(5 prime UTR variant)
Mucolipidosis type IV
GUncertain significance
MCOLN1, LOC130063376
Single nucleotide variant
(5 prime UTR variant)
Mucolipidosis type IV
GUncertain significance
LOC130063376, MCOLN1
Deletion
Mucolipidosis type IV
GPathogenic
LOC130063376, MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
LOC130063376, MCOLN1
(A5fs)
Duplication
(frameshift variant)
Mucolipidosis type IV
GLikely pathogenic
LOC130063376, MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
LOC130063376, MCOLN1
(P4Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130063376, MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
LOC130063376, MCOLN1
(G6C)
Single nucleotide variant
(missense variant)
Mucolipidosis type IV
GConflicting classifications of pathogenicity
LOC130063376, MCOLN1
(G6V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130063376, MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
LOC130063376, MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
LOC130063376, MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
LOC130063376, MCOLN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
LOC130063376, MCOLN1
(S10L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130063376, MCOLN1
Single nucleotide variant
(splice donor variant)
Mucolipidosis type IV
GLikely pathogenic
LOC130063376, MCOLN1
Duplication
(intron variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(intron variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(intron variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Duplication
(intron variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(intron variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(intron variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(intron variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(intron variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MCOLN1
Single nucleotide variant
(intron variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(intron variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(intron variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(intron variant)
Mucolipidosis type IV
GConflicting classifications of pathogenicity
MCOLN1
Single nucleotide variant
(intron variant)
Mucolipidosis type IV
GBenign
MCOLN1
Single nucleotide variant
(intron variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(intron variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(intron variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(intron variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(splice acceptor variant)
Mucolipidosis type IV
GLikely pathogenic
MCOLN1
Single nucleotide variant
(splice acceptor variant)
Mucolipidosis type IV
GLikely pathogenic
MCOLN1
(L15fs)
Duplication
(frameshift variant)
Mucolipidosis type IV
GPathogenic/Likely pathogenic
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
MCOLN1
(E13K)
Single nucleotide variant
(missense variant)
Mucolipidosis type IV
GUncertain significance
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
(R14Q)
Single nucleotide variant
(missense variant)
Mucolipidosis type IV
GUncertain significance
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
(N19fs)
Duplication
(frameshift variant)
Mucolipidosis type IV
GPathogenic/Likely pathogenic
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MCOLN1
(G21R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MCOLN1
(Y22fs)
Deletion
(frameshift variant)
Mucolipidosis type IV
+1 more
GLikely pathogenic
MCOLN1
(G21E)
Single nucleotide variant
(missense variant)
Mucolipidosis type IV
GUncertain significance
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
(Y22C)
Single nucleotide variant
(missense variant)
Mucolipidosis type IV
GUncertain significance
MCOLN1
(Y22*)
Single nucleotide variant
(nonsense)
Mucolipidosis type IV
GPathogenic
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
(T24N)
Single nucleotide variant
(missense variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
(A26V)
Single nucleotide variant
(missense variant)
Mucolipidosis type IV
+1 more
GConflicting classifications of pathogenicity
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GConflicting classifications of pathogenicity
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
(P30L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
(P33fs)
Duplication
(frameshift variant)
Mucolipidosis type IV
GPathogenic
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MCOLN1
(P33L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCOLN1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MCOLN1
(T34P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
(D40fs)
Deletion
(frameshift variant)
Mucolipidosis type IV
GLikely pathogenic
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
(K46R)
Single nucleotide variant
(missense variant)
Mucolipidosis type IV
+1 more
GUncertain significance
MCOLN1
(Y47*)
Single nucleotide variant
(nonsense)
Mucolipidosis type IV
GLikely pathogenic
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
(P52A)
Single nucleotide variant
(missense variant)
Mucolipidosis type IV
GUncertain significance
MCOLN1
(C53*)
Single nucleotide variant
(nonsense)
Mucolipidosis type IV
GPathogenic
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GLikely benign
MCOLN1
(D54N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCOLN1
(K55fs)
Deletion
(frameshift variant)
Mucolipidosis type IV
GPathogenic
MCOLN1
(F56fs)
Deletion
(frameshift variant)
Mucolipidosis type IV
GPathogenic
MCOLN1
(R57*)
Single nucleotide variant
(nonsense)
Mucolipidosis type IV
GPathogenic
MCOLN1
Single nucleotide variant
(synonymous variant)
Mucolipidosis type IV
GConflicting classifications of pathogenicity
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