| | LOC130005128, LOC130005129 +723 more | Copy number gain | See cases | |
| | A-GAMMA3'E, ABCC8 +917 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Deletion | Niemann-Pick disease, type B +1 more | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Niemann-Pick disease, type A | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Niemann-Pick disease, type A | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | LOC130005193, SMPD1 (R3fs) | Deletion (frameshift variant +2 more) | Niemann-Pick disease, type B +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type B +1 more | |
| | LOC130005193, SMPD1 (Y4fs) | Insertion (frameshift variant +2 more) | Niemann-Pick disease, type A | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type B +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type A +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Sphingomyelin/cholesterol lipidosis | |
| | SMPD1, LOC130005193 (Q10fs) | Duplication (frameshift variant +2 more) | Niemann-Pick disease, type A | |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type B +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Sphingomyelin/cholesterol lipidosis | |
| | LOC130005193, SMPD1 (Q10*) | Single nucleotide variant (nonsense +2 more) | Niemann-Pick disease, type A +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type A +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type B +1 more | |
| | LOC130005193, SMPD1 (R14fs) | Deletion (frameshift variant +2 more) | Niemann-Pick disease, type A +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type A +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type B +2 more | GConflicting classifications of pathogenicity |
| | LOC130005193, SMPD1 (S15fs) | Deletion (frameshift variant +2 more) | Niemann-Pick disease, type A +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type B +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type B +1 more | |
| | LOC130005193, SMPD1 (R17Q) | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +1 more | |
| | LOC130005193, SMPD1 (E18*) | Single nucleotide variant (nonsense +2 more) | Niemann-Pick disease, type B +1 more | GPathogenic/Likely pathogenic |
| | LOC130005193, SMPD1 (Q21fs) | Duplication (frameshift variant +2 more) | Niemann-Pick disease, type A +1 more | |
| | LOC130005193, SMPD1 (Q19R) | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +4 more | GConflicting classifications of pathogenicity |
| | LOC130005193, SMPD1 (Q19fs) | Deletion (frameshift variant +2 more) | Niemann-Pick disease, type A +1 more | GConflicting classifications of pathogenicity |
| | LOC130005193, SMPD1 (G20R) | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type A +1 more | |
| | LOC130005193, SMPD1 (Q21*) | Single nucleotide variant (nonsense +2 more) | Niemann-Pick disease, type A +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type A +1 more | GConflicting classifications of pathogenicity |
| | LOC130005193, SMPD1 (T24fs) | Deletion (frameshift variant +2 more) | Niemann-Pick disease, type B +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type B +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type A +2 more | GConflicting classifications of pathogenicity |
| | LOC130005193, SMPD1 (G26R) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | LOC130005193, SMPD1 (G29fs) | Deletion (frameshift variant +2 more) | Niemann-Pick disease, type A +2 more | |
| | LOC130005193, SMPD1 (P28L) | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type A +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type B +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type A +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Niemann-Pick disease, type B +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type B +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | Niemann-Pick disease, type A +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | SMPD1-related condition +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Microsatellite (inframe_insertion +2 more) | not provided +2 more | |
| | | Duplication (inframe_insertion +2 more) | not provided +2 more | |
| | | Insertion (inframe_insertion +2 more) | Niemann-Pick disease, type B +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Insertion (inframe_insertion +2 more) | Niemann-Pick disease, type B +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +2 more) | Niemann-Pick disease, type B +1 more | |
| | | Deletion (inframe_deletion +2 more) | not provided +2 more | |
| | | Deletion (inframe_deletion +2 more) | SMPD1-related condition +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion +2 more) | SMPD1-related condition +3 more | |
| | | Deletion (inframe_deletion +2 more) | not specified +3 more | |
| | | Duplication (frameshift variant +2 more) | Niemann-Pick disease, type A +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type A +1 more | |
| | | Indel (frameshift variant +2 more) | Sphingomyelin/cholesterol lipidosis | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +1 more | |
| | | Insertion (inframe_indel +2 more) | Niemann-Pick disease, type B +1 more | |
| | | Microsatellite (inframe insertion +2 more) | SMPD1-related condition | |
| | | Insertion (non-coding transcript variant +2 more) | Niemann-Pick disease, type B +1 more | |
| | | Indel (missense variant +2 more) | Niemann-Pick disease, type B +1 more | |
| | | Microsatellite (inframe_insertion +2 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Indel (inframe_indel +2 more) | not specified | |
| | | Microsatellite (inframe_insertion +2 more) | SMPD1-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Indel (5 prime UTR variant +2 more) | Sphingomyelin/cholesterol lipidosis +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_insertion +2 more) | Niemann-Pick disease, type A +1 more | |
| | | Insertion (inframe_insertion +2 more) | not specified +3 more | |
| | | Insertion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | SMPD1-related condition +4 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type B +1 more | |
| | | Microsatellite (inframe_deletion +2 more) | Niemann-Pick disease, type A +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Microsatellite (inframe_deletion +2 more) | Niemann-Pick disease, type B +3 more | |
| | | Microsatellite (inframe_deletion +2 more) | SMPD1-related condition +4 more | |
| | | Microsatellite (5 prime UTR variant +2 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +2 more) | Niemann-Pick disease, type B +1 more | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type A +1 more | |
| | | Deletion (frameshift variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type B +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A | |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type B +1 more | |
| | | Deletion (frameshift variant +2 more) | Niemann-Pick disease, type A | |