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Items: 1 to 100 of 129

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130005193, SMPD1
(R3fs)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type B
+1 more
GPathogenic
LOC130005193, SMPD1
(Y4fs)
Insertion
(frameshift variant +2 more)
Niemann-Pick disease, type A
GLikely pathogenic
LOC130005193, SMPD1
(R3H)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+3 more
GConflicting classifications of pathogenicity
SMPD1, LOC130005193
(Q10fs)
Duplication
(frameshift variant +2 more)
Niemann-Pick disease, type A
GLikely pathogenic
LOC130005193, SMPD1
(Q10*)
Single nucleotide variant
(nonsense +2 more)
Niemann-Pick disease, type B
+1 more
GPathogenic/Likely pathogenic
LOC130005193, SMPD1
(R14fs)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type B
+1 more
GPathogenic/Likely pathogenic
LOC130005193, SMPD1
(Q21*)
Single nucleotide variant
(nonsense +2 more)
Niemann-Pick disease, type B
+1 more
GPathogenic/Likely pathogenic
LOC130005193, SMPD1
(G29fs)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type B
+2 more
GPathogenic
SMPD1
(W32*)
Single nucleotide variant
(nonsense +2 more)
Niemann-Pick disease, type B
+1 more
GPathogenic/Likely pathogenic
SMPD1
(W32*)
Single nucleotide variant
(nonsense +2 more)
Niemann-Pick disease, type A
+1 more
GPathogenic/Likely pathogenic
SMPD1
(V36fs)
Duplication
(frameshift variant +2 more)
Niemann-Pick disease, type A
+1 more
GPathogenic
SMPD1
(V36fs)
Indel
(frameshift variant +2 more)
Niemann-Pick disease, type A
+1 more
GLikely pathogenic
SMPD1
(L41fs)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type A
GLikely pathogenic
SMPD1
(D51fs)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type A
+1 more
GPathogenic/Likely pathogenic
SMPD1
(D51V)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+3 more
GConflicting classifications of pathogenicity
SMPD1
(R53fs)
Microsatellite
(frameshift variant +2 more)
Niemann-Pick disease, type A
GLikely pathogenic
SMPD1
(W56*)
Single nucleotide variant
(nonsense +2 more)
Niemann-Pick disease, type B
+1 more
GPathogenic
SMPD1
(A59fs)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type B
+1 more
GPathogenic/Likely pathogenic
SMPD1
(R81*)
Single nucleotide variant
(nonsense +2 more)
Niemann-Pick disease, type A
+1 more
GPathogenic/Likely pathogenic
SMPD1
(C91W)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
GUncertain significance
SMPD1
Single nucleotide variant
(splice acceptor variant +1 more)
Niemann-Pick disease, type A
+1 more
GLikely pathogenic
SMPD1
Single nucleotide variant
(splice acceptor variant +1 more)
Niemann-Pick disease, type A
+1 more
GLikely pathogenic
SMPD1
(I118fs +1 more)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type B
+2 more
GPathogenic/Likely pathogenic
SMPD1
(L121P +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
GConflicting classifications of pathogenicity
SMPD1
(A130fs +1 more)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type A
GLikely pathogenic
SMPD1
(E145fs +1 more)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type A
GLikely pathogenic
SMPD1
(C159R +1 more)
Single nucleotide variant
(missense variant +2 more)
Sphingomyelin/cholesterol lipidosis
+3 more
GPathogenic/Likely pathogenic
SMPD1
(L163P +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+1 more
GConflicting classifications of pathogenicity
SMPD1
(G167R +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+2 more
GPathogenic/Likely pathogenic
SMPD1
(H168fs +1 more)
Duplication
(frameshift variant +2 more)
Niemann-Pick disease, type A
GPathogenic/Likely pathogenic
SMPD1
(W170* +1 more)
Single nucleotide variant
(nonsense +2 more)
Niemann-Pick disease, type A
+1 more
GPathogenic
SMPD1
(S173fs +1 more)
Duplication
(frameshift variant +2 more)
Niemann-Pick disease, type A
+2 more
GPathogenic/Likely pathogenic
SMPD1
(I178N +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GConflicting classifications of pathogenicity
SMPD1
(L179fs +1 more)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type A
+2 more
GPathogenic/Likely pathogenic
SMPD1
(P186L +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
+3 more
GPathogenic
SMPD1
(S191fs +1 more)
Deletion
(frameshift variant +2 more)
Sphingomyelin/cholesterol lipidosis
+3 more
GPathogenic
SMPD1
(A194fs +1 more)
Duplication
(frameshift variant +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
SMPD1
(A198P +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+3 more
GConflicting classifications of pathogenicity
SMPD1
(P198fs +1 more)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type A
GLikely pathogenic
SMPD1
(V199fs +1 more)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type A
+1 more
GPathogenic/Likely pathogenic
SMPD1
(L227P +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+2 more
GConflicting classifications of pathogenicity
SMPD1
(C228R +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
+1 more
GConflicting classifications of pathogenicity
SMPD1
(R230C +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
+3 more
GPathogenic/Likely pathogenic
SMPD1
(R230H +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+4 more
GConflicting classifications of pathogenicity
SMPD1
(G244* +1 more)
Single nucleotide variant
(nonsense +2 more)
Sphingomyelin/cholesterol lipidosis
+2 more
GPathogenic/Likely pathogenic
SMPD1
(G244R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+4 more
GConflicting classifications of pathogenicity
SMPD1
(Y244* +1 more)
Single nucleotide variant
(nonsense +2 more)
Niemann-Pick disease, type A
GLikely pathogenic
SMPD1
(G247S +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
+3 more
GPathogenic/Likely pathogenic
SMPD1
(G246D +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
GLikely pathogenic
SMPD1
(E247* +1 more)
Single nucleotide variant
(nonsense +2 more)
Niemann-Pick disease, type A
+1 more
GPathogenic
SMPD1
(E248K +1 more)
Single nucleotide variant
(missense variant +2 more)
Sphingomyelin/cholesterol lipidosis
+3 more
GConflicting classifications of pathogenicity
SMPD1
(S250R +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
+3 more
GPathogenic/Likely pathogenic
SMPD1
(D253H +1 more)
Single nucleotide variant
(missense variant +2 more)
Sphingomyelin/cholesterol lipidosis
+3 more
GPathogenic/Likely pathogenic
SMPD1
(L256fs +1 more)
Duplication
(frameshift variant +2 more)
Niemann-Pick disease, type A
+1 more
GPathogenic
SMPD1
(L262fs +1 more)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type A
+3 more
GPathogenic
SMPD1
(D279A +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+1 more
GPathogenic
SMPD1
(H283fs +1 more)
Duplication
(frameshift variant +2 more)
Niemann-Pick disease, type B
+2 more
GPathogenic
SMPD1
(A282T +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
+1 more
GPathogenic
SMPD1
(T289fs +1 more)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type A
GLikely pathogenic
SMPD1
(R291H +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+5 more
GUncertain significance
SMPD1
(Q291* +1 more)
Single nucleotide variant
(nonsense +2 more)
Niemann-Pick disease, type A
GLikely pathogenic
SMPD1
(Q294K +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+5 more
GPathogenic
SMPD1
(L304P +1 more)
Single nucleotide variant
Niemann-Pick disease, type A
+3 more
GPathogenic/Likely pathogenic
SMPD1
(V314M +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
+2 more
GConflicting classifications of pathogenicity
SMPD1
(Y314* +1 more)
Single nucleotide variant
(nonsense +2 more)
Niemann-Pick disease, type A
GPathogenic
SMPD1
(A316fs +1 more)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type A
GLikely pathogenic
SMPD1
(G319R +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
+1 more
GConflicting classifications of pathogenicity
SMPD1
(H320fs +2 more)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type A
GLikely pathogenic
SMPD1
(F332fs +2 more)
Deletion
(frameshift variant +1 more)
Niemann-Pick disease, type A
+3 more
GPathogenic
SMPD1
(P332R +2 more)
Single nucleotide variant
(missense variant +1 more)
Sphingomyelin/cholesterol lipidosis
+4 more
GConflicting classifications of pathogenicity
SMPD1
(W342* +2 more)
Single nucleotide variant
(nonsense +2 more)
Niemann-Pick disease, type A
+1 more
GPathogenic/Likely pathogenic
SMPD1
(E351* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+3 more
GPathogenic/Likely pathogenic
SMPD1
(R360C +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
GUncertain significance
SMPD1
Single nucleotide variant
(splice acceptor variant +1 more)
Niemann-Pick disease, type A
+2 more
GPathogenic/Likely pathogenic
SMPD1
(F368fs +2 more)
Duplication
(frameshift variant +2 more)
Niemann-Pick disease, type B
+1 more
GPathogenic/Likely pathogenic
SMPD1
(F367fs +2 more)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type B
+1 more
GPathogenic
SMPD1
(F367fs +2 more)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type A
+1 more
GPathogenic/Likely pathogenic
SMPD1
(Y369C +2 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
+3 more
GConflicting classifications of pathogenicity
SMPD1
(R378H +2 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+3 more
GConflicting classifications of pathogenicity
SMPD1
(L382fs +2 more)
Microsatellite
(frameshift variant +2 more)
Niemann-Pick disease, type A
+2 more
GPathogenic/Likely pathogenic
SMPD1
(L382F +2 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
+2 more
GConflicting classifications of pathogenicity
SMPD1
(W393G +2 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
+3 more
GPathogenic
SMPD1
(R417* +2 more)
Single nucleotide variant
(nonsense +2 more)
Niemann-Pick disease, type C1
+2 more
GPathogenic
SMPD1
Single nucleotide variant
(splice donor variant +1 more)
Niemann-Pick disease, type A
+1 more
GLikely pathogenic
SMPD1
Single nucleotide variant
(splice acceptor variant)
Niemann-Pick disease, type A
+1 more
GLikely pathogenic
SMPD1
Single nucleotide variant
(splice acceptor variant)
Niemann-Pick disease, type A
+2 more
GLikely pathogenic
SMPD1
(H423Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type A
+3 more
GPathogenic
SMPD1
(G426S +3 more)
Single nucleotide variant
(missense variant +1 more)
Sphingomyelin/cholesterol lipidosis
+3 more
GPathogenic/Likely pathogenic
SMPD1
(H120fs +3 more)
Deletion
(frameshift variant +1 more)
Niemann-Pick disease, type A
GLikely pathogenic
SMPD1
(H427R +3 more)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type A
+2 more
GConflicting classifications of pathogenicity
SMPD1
(C389R +3 more)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type A
+1 more
GLikely pathogenic
SMPD1
(R443* +3 more)
Single nucleotide variant
(nonsense +1 more)
Sphingomyelin/cholesterol lipidosis
+4 more
GPathogenic
SMPD1
(R140K +3 more)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type A
+1 more
GLikely pathogenic
SMPD1
Single nucleotide variant
(splice donor variant)
Niemann-Pick disease, type A
+1 more
GLikely pathogenic
SMPD1
Deletion
(intron variant)
Niemann-Pick disease, type A
+1 more
GLikely pathogenic
SMPD1
Single nucleotide variant
(splice acceptor variant)
Niemann-Pick disease, type A
+2 more
GPathogenic/Likely pathogenic
SMPD1
(Y448C +3 more)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type A
+1 more
GPathogenic/Likely pathogenic
SMPD1
(H154fs +3 more)
Deletion
(frameshift variant +1 more)
Niemann-Pick disease, type A
+1 more
GPathogenic
SMPD1
(F465S +3 more)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type A
+1 more
GPathogenic/Likely pathogenic
SMPD1
(Y468S +3 more)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type A
+1 more
GPathogenic/Likely pathogenic
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