U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MCOLN1
(V78L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCOLN1
(R102*)
Single nucleotide variant
(nonsense)
Mucolipidosis type IV
+1 more
GPathogenic
MCOLN1
Single nucleotide variant
(splice acceptor variant)
Mucolipidosis
+2 more
GPathogenic
MCOLN1
(M187T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCOLN1
(T261M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MCOLN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
MCOLN1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
MCOLN1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MCOLN1
(D362Y)
Single nucleotide variant
(missense variant)
MCOLN1-related condition
+2 more
GPathogenic/Likely pathogenic
MCOLN1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MCOLN1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
MCOLN1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MCOLN1, PNPLA6
(V19A +2 more)
Single nucleotide variant
(missense variant)
Mucolipidosis type IV
+4 more
GBenign/Likely benign
Format
Items per page
Sort by
Choose Destination