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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMPD1
(L139P +1 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type B
+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
(Q292K +1 more)
Single nucleotide variant
(missense variant +2 more)
Sphingomyelin/cholesterol lipidosis
Gnot provided
SMPD1
(L304P +1 more)
Single nucleotide variant
not provided
+3 more
GPathogenic
SMPD1
(F332fs +2 more)
Deletion
(frameshift variant +1 more)
Niemann-Pick disease, type A
+3 more
GPathogenic
SMPD1
(A359D +2 more)
Single nucleotide variant
(missense variant +1 more)
Niemann-Pick disease, type B
+1 more
GPathogenic
SMPD1
(H423Y +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic
SMPD1
(R476W +3 more)
Single nucleotide variant
(missense variant +1 more)
SMPD1-related condition
+5 more
GPathogenic/Likely pathogenic
APBB1, SMPD1
(R498L +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
SMPD1
(K578N +3 more)
Single nucleotide variant
(missense variant +2 more)
Niemann-Pick disease, type A
GUncertain significance
APBB1, SMPD1
(R610del +3 more)
Microsatellite
(inframe_deletion +2 more)
SMPD1-related condition
+4 more
GPathogenic
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