U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130005193, SMPD1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LOC130005193, SMPD1
(R3H)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
+3 more
GConflicting classifications of pathogenicity
LOC130005193, SMPD1
Single nucleotide variant
(synonymous variant +2 more)
Niemann-Pick disease, type B
+2 more
GConflicting classifications of pathogenicity
LOC130005193, SMPD1
(Q19R)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+4 more
GConflicting classifications of pathogenicity
LOC130005193, SMPD1
(G20R)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+3 more
GUncertain significance
LOC130005193, SMPD1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC130005193, SMPD1
Single nucleotide variant
(synonymous variant +2 more)
Niemann-Pick disease, type A
+2 more
GConflicting classifications of pathogenicity
LOC130005193, SMPD1
(P28L)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+4 more
GConflicting classifications of pathogenicity
SMPD1, LOC130005193
Single nucleotide variant
(non-coding transcript variant +2 more)
Niemann-Pick disease, type B
+3 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination