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Items: 1 to 100 of 150

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
SMPD1
(M33I)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+4 more
GBenign/Likely benign
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+3 more
GConflicting classifications of pathogenicity
SMPD1
(L35V)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SMPD1
Deletion
(inframe_deletion +2 more)
SMPD1-related condition
+3 more
GBenign/Likely benign
SMPD1
Deletion
(inframe_deletion +2 more)
Niemann-Pick disease, type A
+3 more
GBenign
SMPD1
(V36A)
Single nucleotide variant
(missense variant +2 more)
SMPD1-related condition
+4 more
GBenign
SMPD1
Microsatellite
(inframe_deletion +2 more)
Niemann-Pick disease, type B
+3 more
GBenign
SMPD1
Microsatellite
(inframe_deletion +2 more)
SMPD1-related condition
+4 more
GBenign
SMPD1
(A38V)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
+2 more
GUncertain significance
SMPD1
(A38E)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
SMPD1
(L39fs)
Deletion
(frameshift variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
SMPD1
(S50P)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SMPD1
(H74P)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SMPD1
(R79Q)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
+2 more
GConflicting classifications of pathogenicity
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
Niemann-Pick disease, type A
+2 more
GConflicting classifications of pathogenicity
SMPD1
(K95Q)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
SMPD1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type A
+2 more
GConflicting classifications of pathogenicity
SMPD1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type B
+3 more
GConflicting classifications of pathogenicity
SMPD1
(R113C +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+4 more
GConflicting classifications of pathogenicity
SMPD1
(R113H +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+2 more
GConflicting classifications of pathogenicity
SMPD1
(V114M +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+5 more
GUncertain significance
SMPD1
(V117M +1 more)
Single nucleotide variant
(missense variant +2 more)
SMPD1-related condition
+3 more
GConflicting classifications of pathogenicity
SMPD1
(I118fs +1 more)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type B
+2 more
GPathogenic/Likely pathogenic
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SMPD1
(D143Y +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
Niemann-Pick disease, type A
+5 more
GConflicting classifications of pathogenicity
SMPD1
(R150C +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
SMPD1
(C159R +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+3 more
GPathogenic/Likely pathogenic
SMPD1
(N177Y +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SMPD1
(I178N +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GConflicting classifications of pathogenicity
SMPD1
(P184L +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
+2 more
GConflicting classifications of pathogenicity
SMPD1
(P186L +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GPathogenic
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
Niemann-Pick disease, type A
+3 more
GConflicting classifications of pathogenicity
SMPD1
(P187fs +1 more)
Insertion
(frameshift variant +2 more)
not provided
GPathogenic
SMPD1
(K188fs +1 more)
Deletion
(frameshift variant +2 more)
not provided
+3 more
GPathogenic
SMPD1
(P187T +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SMPD1
(P187S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+3 more
GBenign
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
SMPD1
(S191fs +1 more)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type A
+3 more
GPathogenic
SMPD1
(S192R +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SMPD1
(R202C +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
Niemann-Pick disease, type B
+2 more
GConflicting classifications of pathogenicity
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
not specified
+3 more
GBenign
SMPD1
(T219M +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SMPD1
Duplication
(inframe_insertion +2 more)
not provided
GUncertain significance
SMPD1
Single nucleotide variant
(5 prime UTR variant +2 more)
Niemann-Pick disease, type A
+3 more
GConflicting classifications of pathogenicity
SMPD1
(R230H +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+4 more
GConflicting classifications of pathogenicity
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
Niemann-Pick disease, type A
+4 more
GBenign/Likely benign
SMPD1
(R240Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+2 more
GBenign/Likely benign
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
SMPD1
(G244R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+4 more
GConflicting classifications of pathogenicity
SMPD1
(Y245H +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
SMPD1
(G247S +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GPathogenic/Likely pathogenic
SMPD1
(E248K +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GConflicting classifications of pathogenicity
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
SMPD1
(D253H +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+3 more
GPathogenic/Likely pathogenic
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
SMPD1
(T258P +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SMPD1
(L262fs +1 more)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type B
+3 more
GPathogenic
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
not specified
+3 more
GBenign
SMPD1
(G270S +1 more)
Single nucleotide variant
(missense variant +2 more)
SMPD1-related condition
+3 more
GConflicting classifications of pathogenicity
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
Niemann-Pick disease, type A
+5 more
GBenign/Likely benign
SMPD1
(Y276H +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SMPD1
(G279E +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SMPD1
(H283fs +1 more)
Duplication
(frameshift variant +2 more)
Niemann-Pick disease, type B
+2 more
GPathogenic
SMPD1
(R291H +1 more)
Single nucleotide variant
(missense variant +2 more)
SMPD1-related condition
+6 more
GUncertain significance
SMPD1
(R296W +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SMPD1
(R296Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+3 more
GConflicting classifications of pathogenicity
SMPD1
(V301I +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+3 more
GBenign/Likely benign
SMPD1
(L304P +1 more)
Single nucleotide variant
not provided
+3 more
GPathogenic
SMPD1
(V312M +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SMPD1
(V314M +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+2 more
GConflicting classifications of pathogenicity
SMPD1
(N320D +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
+2 more
GConflicting classifications of pathogenicity
SMPD1
Insertion
(inframe_indel +2 more)
Niemann-Pick disease, type A
+2 more
GUncertain significance
SMPD1
(P330A +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SMPD1
(F332fs +2 more)
Deletion
(frameshift variant +1 more)
Niemann-Pick disease, type A
+3 more
GPathogenic
SMPD1
(P332L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
SMPD1
(P332R +2 more)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type A
+4 more
GConflicting classifications of pathogenicity
SMPD1
(R341C +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
SMPD1
(R26* +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
SMPD1
(P28L)
Single nucleotide variant
(synonymous variant +2 more)
Niemann-Pick disease, type A
+3 more
GConflicting classifications of pathogenicity
SMPD1
(P37L)
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+5 more
GBenign/Likely benign
SMPD1
(R47C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
SMPD1
(R47H)
Single nucleotide variant
(missense variant +2 more)
Sphingomyelin/cholesterol lipidosis
+3 more
GConflicting classifications of pathogenicity
SMPD1
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
SMPD1
(Y369C +2 more)
Single nucleotide variant
(missense variant +2 more)
Sphingomyelin/cholesterol lipidosis
+3 more
GConflicting classifications of pathogenicity
SMPD1
(P373S +2 more)
Single nucleotide variant
(intron variant +2 more)
Niemann-Pick disease, type A
+2 more
GPathogenic
SMPD1
(L379F +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
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