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Links from MedGen

Items: 1 to 100 of 110

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMPD1
(F265L +3 more)
Single nucleotide variant
(missense variant +2 more)
Sphingomyelin/cholesterol lipidosis
GLikely pathogenic
SMPD1
(T181A +3 more)
Single nucleotide variant
(missense variant +1 more)
Sphingomyelin/cholesterol lipidosis
GLikely pathogenic
SMPD1
(V36fs)
Indel
(frameshift variant +2 more)
Sphingomyelin/cholesterol lipidosis
GLikely pathogenic
SMPD1
(H116R +3 more)
Single nucleotide variant
(missense variant +1 more)
Sphingomyelin/cholesterol lipidosis
+2 more
GPathogenic/Likely pathogenic
SMPD1
(Y193H +4 more)
Inversion
(missense variant +1 more)
Niemann-Pick disease, type B
+2 more
GPathogenic
SMPD1
(D51V)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GConflicting classifications of pathogenicity
SMPD1
(L288V +3 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+1 more
GLikely pathogenic
SMPD1
(N382S +2 more)
Single nucleotide variant
(missense variant +2 more)
Sphingomyelin/cholesterol lipidosis
+2 more
GPathogenic/Likely pathogenic
SMPD1
(V252A +3 more)
Single nucleotide variant
(missense variant +2 more)
Sphingomyelin/cholesterol lipidosis
GUncertain significance
SMPD1
(I184V +3 more)
Single nucleotide variant
(missense variant +1 more)
Sphingomyelin/cholesterol lipidosis
GUncertain significance
SMPD1
(I184L +3 more)
Single nucleotide variant
(missense variant +1 more)
Sphingomyelin/cholesterol lipidosis
GUncertain significance
SMPD1
(W286C +1 more)
Single nucleotide variant
(missense variant +2 more)
Sphingomyelin/cholesterol lipidosis
GUncertain significance
SMPD1
(V274L +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+1 more
GUncertain significance
SMPD1
(G231A +1 more)
Single nucleotide variant
(missense variant +2 more)
Sphingomyelin/cholesterol lipidosis
GUncertain significance
SMPD1
Single nucleotide variant
(intron variant)
Niemann-Pick disease, type B
+1 more
GLikely benign
SMPD1
Single nucleotide variant
(intron variant)
Sphingomyelin/cholesterol lipidosis
GUncertain significance
LOC130005193, SMPD1
(R9L)
Single nucleotide variant
(missense variant +2 more)
Sphingomyelin/cholesterol lipidosis
GUncertain significance
LOC130005193, SMPD1
(Y4H)
Single nucleotide variant
(missense variant +2 more)
Sphingomyelin/cholesterol lipidosis
GUncertain significance
NPC1
(P691Q)
Single nucleotide variant
(missense variant)
Niemann-Pick disease, type C
+2 more
GLikely pathogenic
NPC1
(A34fs)
Deletion
(frameshift variant)
Niemann-Pick disease, type C
+1 more
GPathogenic/Likely pathogenic
SMPD1
(G167R +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+2 more
GPathogenic/Likely pathogenic
SMPD1
(V36fs)
Indel
(frameshift variant +2 more)
Niemann-Pick disease, type A
+1 more
GPathogenic/Likely pathogenic
SMPD1
(G85R)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GLikely benign
SMPD1
(M569I +3 more)
Single nucleotide variant
(missense variant +2 more)
SMPD1-related disorder
+2 more
GLikely benign
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
Niemann-Pick disease, type A
+1 more
GLikely benign
SMPD1
(S179R +3 more)
Single nucleotide variant
(missense variant +1 more)
Sphingomyelin/cholesterol lipidosis
+2 more
GPathogenic/Likely pathogenic
SMPD1
(E351* +1 more)
Single nucleotide variant
(nonsense +2 more)
Sphingomyelin/cholesterol lipidosis
+3 more
GPathogenic/Likely pathogenic
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
Niemann-Pick disease, type B
+2 more
GConflicting classifications of pathogenicity
SMPD1
(E352A +2 more)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type A
+1 more
GUncertain significance
SMPD1
(H427R +3 more)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type A
+2 more
GConflicting classifications of pathogenicity
SMPD1
(V314M +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
+2 more
GConflicting classifications of pathogenicity
SMPD1
(R378H +2 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
+3 more
GConflicting classifications of pathogenicity
SMPD1
(L227P +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
+2 more
GConflicting classifications of pathogenicity
LOC130005193, SMPD1
(G29fs)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type A
+2 more
GPathogenic
SMPD1
(H577R +3 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
+3 more
GConflicting classifications of pathogenicity
SMPD1
(S510F +3 more)
Single nucleotide variant
(missense variant +2 more)
SMPD1-related disorder
+4 more
GConflicting classifications of pathogenicity
SMPD1
(A71T)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
+1 more
GUncertain significance
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
SMPD1-related disorder
+4 more
GConflicting classifications of pathogenicity
SMPD1
(R47H)
Single nucleotide variant
(missense variant +2 more)
Sphingomyelin/cholesterol lipidosis
+3 more
GConflicting classifications of pathogenicity
SMPD1
(R202C +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
SMPD1
(K188fs +1 more)
Deletion
(frameshift variant +2 more)
not provided
+3 more
GPathogenic
SMPD1
(E248K +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GConflicting classifications of pathogenicity
SMPD1
(R240Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+2 more
GBenign/Likely benign
SMPD1
(G492S +3 more)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type A
+6 more
GUncertain significance
Niemann-Pick disease, type B
GPathogenic
SMPD1
(P332R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
SMPD1
(R476Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type B
+5 more
GConflicting classifications of pathogenicity
SMPD1
Single nucleotide variant
(splice acceptor variant)
Sphingomyelin/cholesterol lipidosis
+1 more
GLikely pathogenic
SMPD1
(S250R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+3 more
GPathogenic/Likely pathogenic
SMPD1
(P186L +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GPathogenic
SMPD1
(S65fs)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type B
+2 more
GPathogenic/Likely pathogenic
SMPD1
(G244* +1 more)
Single nucleotide variant
(nonsense +2 more)
Sphingomyelin/cholesterol lipidosis
+2 more
GPathogenic/Likely pathogenic
SMPD1
(Y506* +3 more)
Single nucleotide variant
(nonsense +2 more)
Niemann-Pick disease, type B
+2 more
GPathogenic/Likely pathogenic
SMPD1
(R230C +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GPathogenic/Likely pathogenic
SMPD1
Single nucleotide variant
(splice acceptor variant)
Niemann-Pick disease, type B
+2 more
GLikely pathogenic
SMPD1
(L382fs +2 more)
Microsatellite
(frameshift variant +2 more)
Niemann-Pick disease, type A
+3 more
GPathogenic/Likely pathogenic
SMPD1
(V301I +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+3 more
GBenign/Likely benign
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
Niemann-Pick disease, type A
+4 more
GConflicting classifications of pathogenicity
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
Niemann-Pick disease, type A
+5 more
GConflicting classifications of pathogenicity
SMPD1
Insertion
(inframe_insertion +2 more)
Niemann-Pick disease, type B
+3 more
GConflicting classifications of pathogenicity
SMPD1
(Y245H +1 more)
Single nucleotide variant
(missense variant +2 more)
SMPD1-related disorder
+1 more
GUncertain significance
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
SMPD1-related disorder
+4 more
GConflicting classifications of pathogenicity
SMPD1
(K95Q)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
SMPD1
(G530A +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+5 more
GConflicting classifications of pathogenicity
SMPD1
(Y369C +2 more)
Single nucleotide variant
(missense variant +2 more)
Sphingomyelin/cholesterol lipidosis
+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)
Niemann-Pick disease, type B
+5 more
GConflicting classifications of pathogenicity
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
Sphingomyelin/cholesterol lipidosis
+4 more
GConflicting classifications of pathogenicity
SMPD1
(R47C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
SMPD1, LOC130005193
(R3H)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GConflicting classifications of pathogenicity
SMPD1
(V114M +1 more)
Single nucleotide variant
(missense variant +2 more)
Sphingomyelin/cholesterol lipidosis
+5 more
GUncertain significance
SMPD1
Single nucleotide variant
(synonymous variant +2 more)
not specified
+5 more
GBenign/Likely benign
SMPD1
Deletion
(inframe_deletion +2 more)
Niemann-Pick disease, type B
+5 more
GConflicting classifications of pathogenicity
SMPD1
(K578N +3 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
GUncertain significance
SMPD1
(A359D +2 more)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type B
+1 more
GPathogenic
SMPD1
(Q292K +1 more)
Single nucleotide variant
(missense variant +2 more)
Sphingomyelin/cholesterol lipidosis
Gnot provided
SMPD1
(A198P +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+3 more
GConflicting classifications of pathogenicity
SMPD1
(L139P +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+2 more
GPathogenic/Likely pathogenic
SMPD1
(R498C +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GPathogenic/Likely pathogenic
SMPD1
(E517V +3 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+5 more
GConflicting classifications of pathogenicity
APBB1, SMPD1
(R610del +3 more)
Microsatellite
(inframe_deletion +2 more)
Niemann-Pick disease, type B
+4 more
GPathogenic
SMPD1
(L262fs +1 more)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type B
+3 more
GPathogenic
SMPD1
(R291H +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
+6 more
GUncertain significance
SMPD1
(S173fs +1 more)
Duplication
(frameshift variant +2 more)
Niemann-Pick disease, type B
+2 more
GPathogenic/Likely pathogenic
SMPD1
(L179fs +1 more)
Deletion
(frameshift variant +2 more)
Niemann-Pick disease, type B
+2 more
GPathogenic/Likely pathogenic
SMPD1
(P477L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
SMPD1
(R602H +3 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+3 more
GPathogenic/Likely pathogenic
SMPD1
(R498H +4 more)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type B
+4 more
GPathogenic/Likely pathogenic
SMPD1
(S191fs +1 more)
Deletion
(frameshift variant +2 more)
Sphingomyelin/cholesterol lipidosis
+3 more
GPathogenic
SMPD1
(C159R +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GPathogenic/Likely pathogenic
SMPD1
(G247S +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GPathogenic/Likely pathogenic
SMPD1
(D253H +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
+3 more
GPathogenic/Likely pathogenic
SMPD1
(R542* +3 more)
Single nucleotide variant
(nonsense +2 more)
Niemann-Pick disease, type A
+4 more
GPathogenic
SMPD1
(R476W +3 more)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type A
+5 more
GPathogenic/Likely pathogenic
SMPD1
Single nucleotide variant
(splice acceptor variant +1 more)
Niemann-Pick disease, type B
+2 more
GPathogenic/Likely pathogenic
SMPD1
(P37L)
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+5 more
GBenign/Likely benign
SMPD1
(A483E +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GPathogenic/Likely pathogenic
SMPD1
(Q294K +1 more)
Single nucleotide variant
(missense variant +2 more)
Sphingomyelin/cholesterol lipidosis
+5 more
GPathogenic
SMPD1
(R443* +3 more)
Single nucleotide variant
(nonsense +1 more)
Niemann-Pick disease, type A
+4 more
GPathogenic
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