NM_002778.4(PSAP):c.650C>T (p.Thr217Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV000624006]|Sphingolipid activator protein 1 deficiency [RCV000014289]|not provided [RCV000732106] |
Chr10:71828084 [GRCh38] Chr10:73587841 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_002778.4(PSAP):c.777+1915C>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV000014290] |
Chr10:71823922 [GRCh38] Chr10:73583679 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.722G>C (p.Cys241Ser) |
single nucleotide variant |
Combined PSAP deficiency [RCV000588928]|Sphingolipid activator protein 1 deficiency [RCV000014291] |
Chr10:71825892 [GRCh38] Chr10:73585649 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.1145G>T (p.Cys382Phe) |
single nucleotide variant |
Gaucher disease due to saposin C deficiency [RCV000014292] |
Chr10:71819761 [GRCh38] Chr10:73579518 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.1A>T (p.Met1Leu) |
single nucleotide variant |
Combined PSAP deficiency [RCV000014293]|Gaucher disease due to saposin C deficiency [RCV000014294]|Sphingolipid activator protein 1 deficiency [RCV001857349] |
Chr10:71851221 [GRCh38] Chr10:73610978 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.577-1G>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV000014295] |
Chr10:71828158 [GRCh38] Chr10:73587915 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.643A>C (p.Asn215His) |
single nucleotide variant |
PSAP-related condition [RCV003398506]|Sphingolipid activator protein 1 deficiency [RCV000014296] |
Chr10:71828091 [GRCh38] Chr10:73587848 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_002778.4(PSAP):c.794del (p.Cys265fs) |
deletion |
Combined PSAP deficiency [RCV000014297] |
Chr10:71821991 [GRCh38] Chr10:73581748 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.207_209del (p.Val70del) |
deletion |
Krabbe disease due to saposin A deficiency [RCV000014298]|Sphingolipid activator protein 1 deficiency [RCV002513042] |
Chr10:71831886..71831888 [GRCh38] Chr10:73591643..73591645 [GRCh37] Chr10:10q22.1 |
pathogenic|uncertain significance |
NM_002778.4(PSAP):c.1144T>G (p.Cys382Gly) |
single nucleotide variant |
Gaucher disease due to saposin C deficiency [RCV000014299] |
Chr10:71819762 [GRCh38] Chr10:73579519 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.1288C>T (p.Gln430Ter) |
single nucleotide variant |
Gaucher disease due to saposin C deficiency [RCV000014300] |
Chr10:71819527 [GRCh38] Chr10:73579284 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.1046T>C (p.Leu349Pro) |
single nucleotide variant |
Gaucher disease due to saposin C deficiency [RCV000014301]|Metachromatic leukodystrophy [RCV003317034] |
Chr10:71819860 [GRCh38] Chr10:73579617 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_002778.4(PSAP):c.1006-2A>G |
single nucleotide variant |
Combined PSAP deficiency [RCV000014302]|Sphingolipid activator protein 1 deficiency [RCV001851850] |
Chr10:71819902 [GRCh38] Chr10:73579659 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_002778.4(PSAP):c.577-2A>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV000014303] |
Chr10:71828159 [GRCh38] Chr10:73587916 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.828_829del (p.Glu276fs) |
microsatellite |
Sphingolipid activator protein 1 deficiency [RCV000014304]|not provided [RCV001090814] |
Chr10:71821956..71821957 [GRCh38] Chr10:73581713..73581714 [GRCh37] Chr10:10q22.1 |
pathogenic |
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 |
copy number loss |
See cases [RCV000052530] |
Chr10:62229688..74468143 [GRCh38] Chr10:63989447..76227901 [GRCh37] Chr10:63659453..75897907 [NCBI36] Chr10:10q21.2-22.2 |
pathogenic |
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 |
copy number loss |
See cases [RCV000052511] |
Chr10:58436466..74415216 [GRCh38] Chr10:60196226..76174974 [GRCh37] Chr10:59866232..75844980 [NCBI36] Chr10:10q21.1-22.2 |
pathogenic |
NM_002778.4(PSAP):c.1005+18C>T |
single nucleotide variant |
Combined PSAP deficiency [RCV001538043]|Krabbe disease due to saposin A deficiency [RCV001538044]|Sphingolipid activator protein 1 deficiency [RCV001511826]|not provided [RCV000676143]|not specified [RCV000080033] |
Chr10:71820222 [GRCh38] Chr10:73579979 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.1351-14A>G |
single nucleotide variant |
Atypical Gaucher Disease [RCV000291365]|CDH23-Related Disorders [RCV000406452]|Combined PSAP deficiency [RCV000343946]|Galactosylceramide beta-galactosidase deficiency [RCV000400368]|Gaucher disease due to saposin C deficiency [RCV001103803]|Krabbe disease due to saposin A deficiency [RCV001103805]|Metachromatic leukodystrophy [RCV000340431]|Sphingolipid activator protein 1 deficiency [RCV001103804]|not provided [RCV000676139]|not specified [RCV000080034] |
Chr10:71819125 [GRCh38] Chr10:73578882 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 |
copy number gain |
See cases [RCV000134848] |
Chr10:42685306..73715908 [GRCh38] Chr10:43180754..75475666 [GRCh37] Chr10:42500760..75145672 [NCBI36] Chr10:10q11.21-22.2 |
pathogenic |
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 |
copy number gain |
See cases [RCV000135438] |
Chr10:67196567..79422057 [GRCh38] Chr10:68956325..81181813 [GRCh37] Chr10:68626331..80851819 [NCBI36] Chr10:10q21.3-22.3 |
pathogenic |
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 |
copy number loss |
See cases [RCV000136658] |
Chr10:63402579..75296099 [GRCh38] Chr10:65162339..77055857 [GRCh37] Chr10:64832345..76725863 [NCBI36] Chr10:10q21.3-22.2 |
pathogenic|likely benign |
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 |
copy number gain |
See cases [RCV000138007] |
Chr10:50729367..87147204 [GRCh38] Chr10:52489127..88906961 [GRCh37] Chr10:52159133..88896941 [NCBI36] Chr10:10q11.23-23.2 |
pathogenic |
NM_002778.4(PSAP):c.623T>G (p.Ile208Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001272678]|Sphingolipid activator protein 1 deficiency [RCV001081218]|not provided [RCV000514444] |
Chr10:71828111 [GRCh38] Chr10:73587868 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002778.4(PSAP):c.-4C>T |
single nucleotide variant |
Combined PSAP deficiency [RCV000344174]|Gaucher disease due to saposin C deficiency [RCV000289299]|Krabbe disease due to saposin A deficiency [RCV000401140]|Metachromatic leukodystrophy [RCV001833274]|Sphingolipid activator protein 1 deficiency [RCV000379052]|not provided [RCV000676144]|not specified [RCV000248638] |
Chr10:71851225 [GRCh38] Chr10:73610982 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.1350+5G>A |
single nucleotide variant |
Atypical Gaucher Disease [RCV000313723]|Combined PSAP deficiency [RCV000370757]|Galactosylceramide beta-galactosidase deficiency [RCV000405067]|Gaucher disease due to saposin C deficiency [RCV001103806]|Krabbe disease due to saposin A deficiency [RCV001103807]|Metachromatic leukodystrophy [RCV000391848]|Nonsyndromic Hearing Loss, Recessive [RCV000304444]|Retinitis pigmentosa-deafness syndrome [RCV000361450]|Sphingolipid activator protein 1 deficiency [RCV001103808]|not provided [RCV000676140]|not specified [RCV000241705] |
Chr10:71819460 [GRCh38] Chr10:73579217 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_002778.4(PSAP):c.1540-34C>T |
single nucleotide variant |
Combined PSAP deficiency [RCV001789280]|Krabbe disease due to saposin A deficiency [RCV001789281]|Sphingolipid activator protein 1 deficiency [RCV001789279]|not provided [RCV001689838]|not specified [RCV000241823] |
Chr10:71817510 [GRCh38] Chr10:73577267 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.-10A>G |
single nucleotide variant |
Combined PSAP deficiency [RCV000309648]|Gaucher disease due to saposin C deficiency [RCV000408244]|Krabbe disease due to saposin A deficiency [RCV000350452]|Sphingolipid activator protein 1 deficiency [RCV000315569]|not provided [RCV000676145]|not specified [RCV000254128] |
Chr10:71851231 [GRCh38] Chr10:73610988 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_002778.4(PSAP):c.1380C>T (p.Pro460=) |
single nucleotide variant |
Combined PSAP deficiency [RCV000282920]|Galactosylceramide beta-galactosidase deficiency [RCV001271962]|Gaucher disease due to saposin C deficiency [RCV000322786]|Krabbe disease due to saposin A deficiency [RCV000379713]|Sphingolipid activator protein 1 deficiency [RCV000884810]|not provided [RCV002262880]|not specified [RCV000250058] |
Chr10:71819082 [GRCh38] Chr10:73578839 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_002778.4(PSAP):c.909+32G>T |
single nucleotide variant |
Combined PSAP deficiency [RCV001538045]|Krabbe disease due to saposin A deficiency [RCV001538046]|Sphingolipid activator protein 1 deficiency [RCV001538047]|not provided [RCV001610631]|not specified [RCV000247827] |
Chr10:71821844 [GRCh38] Chr10:73581601 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.1193-26G>A |
single nucleotide variant |
Combined PSAP deficiency [RCV001538040]|Krabbe disease due to saposin A deficiency [RCV001538041]|Sphingolipid activator protein 1 deficiency [RCV001538042]|not provided [RCV000676141]|not specified [RCV000250338] |
Chr10:71819648 [GRCh38] Chr10:73579405 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.1005+42C>G |
single nucleotide variant |
not specified [RCV000245594] |
Chr10:71820198 [GRCh38] Chr10:73579955 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.-28A>C |
single nucleotide variant |
Combined PSAP deficiency [RCV000320357]|Gaucher disease due to saposin C deficiency [RCV000265215]|Krabbe disease due to saposin A deficiency [RCV000266404]|Sphingolipid activator protein 1 deficiency [RCV000360960]|not specified [RCV000245942] |
Chr10:71851249 [GRCh38] Chr10:73611006 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_002778.4(PSAP):c.1261C>T (p.Arg421Cys) |
single nucleotide variant |
Combined PSAP deficiency [RCV000360171]|Gaucher disease due to saposin C deficiency [RCV000320675]|Krabbe disease due to saposin A deficiency [RCV000267782]|Sphingolipid activator protein 1 deficiency [RCV000377595] |
Chr10:71819554 [GRCh38] Chr10:73579311 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_002778.4(PSAP):c.*122C>G |
single nucleotide variant |
Combined PSAP deficiency [RCV000267855]|Gaucher disease due to saposin C deficiency [RCV000360087]|Krabbe disease due to saposin A deficiency [RCV000390908]|Sphingolipid activator protein 1 deficiency [RCV000298428]|not provided [RCV001556327] |
Chr10:71817319 [GRCh38] Chr10:73577076 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_002778.4(PSAP):c.1088C>T (p.Thr363Met) |
single nucleotide variant |
Combined PSAP deficiency [RCV000335258]|Gaucher disease due to saposin C deficiency [RCV000301263]|Krabbe disease due to saposin A deficiency [RCV000390963]|Metachromatic leukodystrophy [RCV001828310]|Sphingolipid activator protein 1 deficiency [RCV000390949]|not provided [RCV001356155] |
Chr10:71819818 [GRCh38] Chr10:73579575 [GRCh37] Chr10:10q22.1 |
benign|uncertain significance |
NM_002778.4(PSAP):c.911A>G (p.Lys304Arg) |
single nucleotide variant |
Combined PSAP deficiency [RCV000301802]|Gaucher disease due to saposin C deficiency [RCV000340234]|Krabbe disease due to saposin A deficiency [RCV000407241]|Sphingolipid activator protein 1 deficiency [RCV000390115] |
Chr10:71820334 [GRCh38] Chr10:73580091 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1056C>T (p.Ser352=) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000361976]|Combined PSAP deficiency [RCV000303307]|Galactosylceramide beta-galactosidase deficiency [RCV000304947]|Gaucher disease due to saposin C deficiency [RCV001103919]|Krabbe disease due to saposin A deficiency [RCV001103918]|Metachromatic leukodystrophy [RCV000264576]|Sphingolipid activator protein 1 deficiency [RCV000973449] |
Chr10:71819850 [GRCh38] Chr10:73579607 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002778.4(PSAP):c.336C>T (p.Ser112=) |
single nucleotide variant |
Combined PSAP deficiency [RCV000322338]|Gaucher disease due to saposin C deficiency [RCV000357299]|Krabbe disease due to saposin A deficiency [RCV000358497]|Sphingolipid activator protein 1 deficiency [RCV000967680] |
Chr10:71831165 [GRCh38] Chr10:73590922 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_002778.4(PSAP):c.570G>T (p.Gln190His) |
single nucleotide variant |
Combined PSAP deficiency [RCV000345152]|Galactosylceramide beta-galactosidase deficiency [RCV001271964]|Gaucher disease due to saposin C deficiency [RCV000285482]|Gaucher disease due to saposin C deficiency [RCV002504058]|Krabbe disease due to saposin A deficiency [RCV000379808]|Sphingolipid activator protein 1 deficiency [RCV000974717]|not provided [RCV001546038] |
Chr10:71828883 [GRCh38] Chr10:73588640 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser) |
single nucleotide variant |
Combined PSAP deficiency [RCV000304205]|Gaucher disease due to saposin C deficiency [RCV000393668]|Krabbe disease due to saposin A deficiency [RCV000345088]|Sphingolipid activator protein 1 deficiency [RCV000972285]|not provided [RCV001552293] |
Chr10:71834458 [GRCh38] Chr10:73594215 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_002778.4(PSAP):c.*73C>T |
single nucleotide variant |
Combined PSAP deficiency [RCV000270083]|Gaucher disease due to saposin C deficiency [RCV000332122]|Krabbe disease due to saposin A deficiency [RCV000380700]|Sphingolipid activator protein 1 deficiency [RCV000388972] |
Chr10:71817368 [GRCh38] Chr10:73577125 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.798G>A (p.Ala266=) |
single nucleotide variant |
Combined PSAP deficiency [RCV000310085]|Gaucher disease due to saposin C deficiency [RCV000313643]|Krabbe disease due to saposin A deficiency [RCV000270227]|Metachromatic leukodystrophy [RCV001833439]|Sphingolipid activator protein 1 deficiency [RCV000362418] |
Chr10:71821987 [GRCh38] Chr10:73581744 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002778.4(PSAP):c.1476T>C (p.Thr492=) |
single nucleotide variant |
Combined PSAP deficiency [RCV000336521]|Gaucher disease due to saposin C deficiency [RCV000340063]|Krabbe disease due to saposin A deficiency [RCV000287337]|Sphingolipid activator protein 1 deficiency [RCV000904670] |
Chr10:71818680 [GRCh38] Chr10:73578437 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002778.3(PSAP):c.-56A>G |
single nucleotide variant |
Atypical Gaucher Disease [RCV000304421]|Combined PSAP deficiency [RCV000357989]|Galactosylceramide beta-galactosidase deficiency [RCV000361509]|Metachromatic leukodystrophy [RCV000392509] |
Chr10:71851277 [GRCh38] Chr10:73611034 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.*113C>T |
single nucleotide variant |
Combined PSAP deficiency [RCV000301719]|Gaucher disease due to saposin C deficiency [RCV000328683]|Krabbe disease due to saposin A deficiency [RCV000271245]|Sphingolipid activator protein 1 deficiency [RCV000358827] |
Chr10:71817328 [GRCh38] Chr10:73577085 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1258G>A (p.Asp420Asn) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000380910]|Combined PSAP deficiency [RCV000288610]|Galactosylceramide beta-galactosidase deficiency [RCV000328597]|Metachromatic leukodystrophy [RCV000271167] |
Chr10:71819557 [GRCh38] Chr10:73579314 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met) |
single nucleotide variant |
Combined PSAP deficiency [RCV000349589]|Gaucher disease due to saposin C deficiency [RCV000389048]|Inborn genetic diseases [RCV002520627]|Krabbe disease due to saposin A deficiency [RCV000350842]|Metachromatic leukodystrophy [RCV001833438]|Sphingolipid activator protein 1 deficiency [RCV001044241]|not provided [RCV002262951] |
Chr10:71819734 [GRCh38] Chr10:73579491 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002778.4(PSAP):c.167C>G (p.Pro56Arg) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000272506]|Combined PSAP deficiency [RCV000327586]|Galactosylceramide beta-galactosidase deficiency [RCV000274090]|Metachromatic leukodystrophy [RCV000386828]|Sphingolipid activator protein 1 deficiency [RCV002522167] |
Chr10:71834379 [GRCh38] Chr10:73594136 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.*574G>C |
single nucleotide variant |
Combined PSAP deficiency [RCV000344036]|Gaucher disease due to saposin C deficiency [RCV000295048]|Krabbe disease due to saposin A deficiency [RCV000289093]|Sphingolipid activator protein 1 deficiency [RCV000389343] |
Chr10:71816867 [GRCh38] Chr10:73576624 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.3(PSAP):c.-33T>C |
single nucleotide variant |
Atypical Gaucher Disease [RCV000398978]|Combined PSAP deficiency [RCV000386758]|Galactosylceramide beta-galactosidase deficiency [RCV000351340]|Metachromatic leukodystrophy [RCV000294131] |
Chr10:71851254 [GRCh38] Chr10:73611011 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1012A>G (p.Ile338Val) |
single nucleotide variant |
Combined PSAP deficiency [RCV000325945]|Gaucher disease due to saposin C deficiency [RCV000382922]|Krabbe disease due to saposin A deficiency [RCV000273320]|Sphingolipid activator protein 1 deficiency [RCV000365539] |
Chr10:71819894 [GRCh38] Chr10:73579651 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_002778.4(PSAP):c.174+9C>T |
single nucleotide variant |
Combined PSAP deficiency [RCV000361163]|Gaucher disease due to saposin C deficiency [RCV000307686]|Krabbe disease due to saposin A deficiency [RCV000362343]|Sphingolipid activator protein 1 deficiency [RCV000895393] |
Chr10:71834363 [GRCh38] Chr10:73594120 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002778.4(PSAP):c.227T>A (p.Met76Lys) |
single nucleotide variant |
Combined PSAP deficiency [RCV000384126]|Gaucher disease due to saposin C deficiency [RCV000349338]|Krabbe disease due to saposin A deficiency [RCV000329512]|Sphingolipid activator protein 1 deficiency [RCV000294452] |
Chr10:71831868 [GRCh38] Chr10:73591625 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.557G>A (p.Arg186His) |
single nucleotide variant |
Combined PSAP deficiency [RCV000291043]|Gaucher disease due to saposin C deficiency [RCV000401145]|Krabbe disease due to saposin A deficiency [RCV000391944]|Sphingolipid activator protein 1 deficiency [RCV000345936] |
Chr10:71828896 [GRCh38] Chr10:73588653 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.-29C>T |
single nucleotide variant |
Combined PSAP deficiency [RCV000327522]|Gaucher disease due to saposin C deficiency [RCV000291198]|Krabbe disease due to saposin A deficiency [RCV000380853]|Sphingolipid activator protein 1 deficiency [RCV000326253] |
Chr10:71851250 [GRCh38] Chr10:73611007 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1278C>T (p.Asn426=) |
single nucleotide variant |
Combined PSAP deficiency [RCV000356874]|Gaucher disease due to saposin C deficiency [RCV000299749]|Krabbe disease due to saposin A deficiency [RCV000259660]|Metachromatic leukodystrophy [RCV001272671]|Sphingolipid activator protein 1 deficiency [RCV000932186]|not specified [RCV003330636] |
Chr10:71819537 [GRCh38] Chr10:73579294 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002778.4(PSAP):c.41-13G>C |
single nucleotide variant |
Combined PSAP deficiency [RCV000371674]|Gaucher disease due to saposin C deficiency [RCV000316930]|Krabbe disease due to saposin A deficiency [RCV000275892]|Sphingolipid activator protein 1 deficiency [RCV000263028] |
Chr10:71834518 [GRCh38] Chr10:73594275 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002778.4(PSAP):c.78C>T (p.Thr26=) |
single nucleotide variant |
Combined PSAP deficiency [RCV000370278]|Gaucher disease due to saposin C deficiency [RCV000310907]|Krabbe disease due to saposin A deficiency [RCV000364543]|Metachromatic leukodystrophy [RCV001833440]|Sphingolipid activator protein 1 deficiency [RCV000959111] |
Chr10:71834468 [GRCh38] Chr10:73594225 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_002778.4(PSAP):c.714C>G (p.Ala238=) |
single nucleotide variant |
Combined PSAP deficiency [RCV000370671]|Gaucher disease due to saposin C deficiency [RCV000354645]|Krabbe disease due to saposin A deficiency [RCV000332576]|Sphingolipid activator protein 1 deficiency [RCV000902915]|not provided [RCV003417974] |
Chr10:71828020 [GRCh38] Chr10:73587777 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002778.4(PSAP):c.577-10T>C |
single nucleotide variant |
Combined PSAP deficiency [RCV000259735]|Gaucher disease due to saposin C deficiency [RCV000284433]|Krabbe disease due to saposin A deficiency [RCV000319640]|Sphingolipid activator protein 1 deficiency [RCV000898101] |
Chr10:71828167 [GRCh38] Chr10:73587924 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002778.4(PSAP):c.1000A>T (p.Thr334Ser) |
single nucleotide variant |
Combined PSAP deficiency [RCV000333973]|Gaucher disease due to saposin C deficiency [RCV000386288]|Krabbe disease due to saposin A deficiency [RCV000276629]|Sphingolipid activator protein 1 deficiency [RCV000294309] |
Chr10:71820245 [GRCh38] Chr10:73580002 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.-22G>C |
single nucleotide variant |
Combined PSAP deficiency [RCV000408218]|Gaucher disease due to saposin C deficiency [RCV000357433]|Krabbe disease due to saposin A deficiency [RCV000369974]|Sphingolipid activator protein 1 deficiency [RCV000297923] |
Chr10:71851243 [GRCh38] Chr10:73611000 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.1452G>A (p.Ser484=) |
single nucleotide variant |
Combined PSAP deficiency [RCV000330576]|Galactosylceramide beta-galactosidase deficiency [RCV001271961]|Gaucher disease due to saposin C deficiency [RCV000308371]|Krabbe disease due to saposin A deficiency [RCV000277898]|Sphingolipid activator protein 1 deficiency [RCV000974716]|not provided [RCV001689997] |
Chr10:71818704 [GRCh38] Chr10:73578461 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_002778.3(PSAP):c.-65C>T |
single nucleotide variant |
Atypical Gaucher Disease [RCV000333211]|Combined PSAP deficiency [RCV000294630]|Galactosylceramide beta-galactosidase deficiency [RCV000329668]|Metachromatic leukodystrophy [RCV000386588]|not provided [RCV002285306] |
Chr10:71851286 [GRCh38] Chr10:73611043 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_002778.4(PSAP):c.*9A>G |
single nucleotide variant |
Combined PSAP deficiency [RCV000294266]|Gaucher disease due to saposin C deficiency [RCV000318911]|Krabbe disease due to saposin A deficiency [RCV000279004]|Sphingolipid activator protein 1 deficiency [RCV000375756] |
Chr10:71817432 [GRCh38] Chr10:73577189 [GRCh37] Chr10:10q22.1 |
benign|uncertain significance |
NM_002778.4(PSAP):c.204C>T (p.Asp68=) |
single nucleotide variant |
Combined PSAP deficiency [RCV000336409]|Gaucher disease due to saposin C deficiency [RCV000295411]|Krabbe disease due to saposin A deficiency [RCV000390895]|Metachromatic leukodystrophy [RCV001271965]|Sphingolipid activator protein 1 deficiency [RCV000960618]|not provided [RCV002056130] |
Chr10:71831891 [GRCh38] Chr10:73591648 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_002778.4(PSAP):c.112A>T (p.Thr38Ser) |
single nucleotide variant |
Combined PSAP deficiency [RCV000334914]|Gaucher disease due to saposin C deficiency [RCV000388278]|Krabbe disease due to saposin A deficiency [RCV000279820]|Sphingolipid activator protein 1 deficiency [RCV000333853] |
Chr10:71834434 [GRCh38] Chr10:73594191 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.*775G>A |
single nucleotide variant |
Combined PSAP deficiency [RCV000377635]|Gaucher disease due to saposin C deficiency [RCV000383317]|Krabbe disease due to saposin A deficiency [RCV000264363]|Sphingolipid activator protein 1 deficiency [RCV000328693]|not provided [RCV001712009] |
Chr10:71816666 [GRCh38] Chr10:73576423 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_002778.4(PSAP):c.94T>G (p.Trp32Gly) |
single nucleotide variant |
Combined PSAP deficiency [RCV000390195]|Gaucher disease due to saposin C deficiency [RCV000339496]|Krabbe disease due to saposin A deficiency [RCV000374243]|Sphingolipid activator protein 1 deficiency [RCV000284356] |
Chr10:71834452 [GRCh38] Chr10:73594209 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.*276G>A |
single nucleotide variant |
Combined PSAP deficiency [RCV000338205]|Gaucher disease due to saposin C deficiency [RCV000392420]|Krabbe disease due to saposin A deficiency [RCV000299671]|Sphingolipid activator protein 1 deficiency [RCV000349996] |
Chr10:71817165 [GRCh38] Chr10:73576922 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.189C>T (p.Cys63=) |
single nucleotide variant |
Combined PSAP deficiency [RCV000355292]|Gaucher disease due to saposin C deficiency [RCV000300495]|Krabbe disease due to saposin A deficiency [RCV000301590]|Sphingolipid activator protein 1 deficiency [RCV000971779]|not provided [RCV001672431] |
Chr10:71831906 [GRCh38] Chr10:73591663 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002778.4(PSAP):c.1432-4A>G |
single nucleotide variant |
Combined PSAP deficiency [RCV000368118]|Gaucher disease due to saposin C deficiency [RCV000371699]|Krabbe disease due to saposin A deficiency [RCV000319311]|Sphingolipid activator protein 1 deficiency [RCV000261764] |
Chr10:71818728 [GRCh38] Chr10:73578485 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr) |
single nucleotide variant |
Combined PSAP deficiency [RCV000366675]|Gaucher disease due to saposin C deficiency [RCV000407182]|Inborn genetic diseases [RCV002520626]|Krabbe disease due to saposin A deficiency [RCV000402799]|Sphingolipid activator protein 1 deficiency [RCV000309664] |
Chr10:71818700 [GRCh38] Chr10:73578457 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.3(PSAP):c.-62A>G |
single nucleotide variant |
Atypical Gaucher Disease [RCV000364883]|Combined PSAP deficiency [RCV000326587]|Galactosylceramide beta-galactosidase deficiency [RCV000272681]|Metachromatic leukodystrophy [RCV000269230] |
Chr10:71851283 [GRCh38] Chr10:73611040 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.40+12G>A |
single nucleotide variant |
Combined PSAP deficiency [RCV000318811]|Gaucher disease due to saposin C deficiency [RCV000378161]|Krabbe disease due to saposin A deficiency [RCV000283508]|Sphingolipid activator protein 1 deficiency [RCV000343158] |
Chr10:71851170 [GRCh38] Chr10:73610927 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_002778.4(PSAP):c.582T>C (p.Asn194=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001086179]|not provided [RCV000392777] |
Chr10:71828152 [GRCh38] Chr10:73587909 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002778.4(PSAP):c.*859C>T |
single nucleotide variant |
Combined PSAP deficiency [RCV000298014]|Gaucher disease due to saposin C deficiency [RCV000267687]|Krabbe disease due to saposin A deficiency [RCV000322739]|Sphingolipid activator protein 1 deficiency [RCV000352959] |
Chr10:71816582 [GRCh38] Chr10:73576339 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.250-12G>A |
single nucleotide variant |
Combined PSAP deficiency [RCV000382490]|Gaucher disease due to saposin C deficiency [RCV000288083]|Krabbe disease due to saposin A deficiency [RCV000268193]|Sphingolipid activator protein 1 deficiency [RCV000323233] |
Chr10:71831263 [GRCh38] Chr10:73591020 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_002778.4(PSAP):c.923C>T (p.Pro308Leu) |
single nucleotide variant |
Combined PSAP deficiency [RCV000371610]|Gaucher disease due to saposin C deficiency [RCV000279263]|Krabbe disease due to saposin A deficiency [RCV000341259]|Sphingolipid activator protein 1 deficiency [RCV000337925] |
Chr10:71820322 [GRCh38] Chr10:73580079 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1268del (p.Leu423fs) |
deletion |
Sphingolipid activator protein 1 deficiency [RCV000755007] |
Chr10:71819547 [GRCh38] Chr10:73579304 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.414C>T (p.Cys138=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001277788]|Sphingolipid activator protein 1 deficiency [RCV001494927] |
Chr10:71829039 [GRCh38] Chr10:73588796 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.379C>T (p.Arg127Cys) |
single nucleotide variant |
Gaucher disease due to saposin C deficiency [RCV002493467]|Inborn genetic diseases [RCV002537774]|Metachromatic leukodystrophy [RCV001277789]|Sphingolipid activator protein 1 deficiency [RCV002537773] |
Chr10:71829074 [GRCh38] Chr10:73588831 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.41-17_41-9dup |
duplication |
Metachromatic leukodystrophy [RCV001277795]|Sphingolipid activator protein 1 deficiency [RCV001483515] |
Chr10:71834513..71834514 [GRCh38] Chr10:73594270..73594271 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.8C>G (p.Ala3Gly) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001277797]|Sphingolipid activator protein 1 deficiency [RCV002537776] |
Chr10:71851214 [GRCh38] Chr10:73610971 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.*439C>T |
single nucleotide variant |
Atypical Gaucher Disease [RCV000312734]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106488]|Combined PSAP deficiency [RCV000314348]|Galactosylceramide beta-galactosidase deficiency [RCV000403296]|Metachromatic leukodystrophy [RCV000352338]|Usher syndrome type 1D [RCV001106487] |
Chr10:71815717 [GRCh38] Chr10:73575474 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.1316del (p.Gly439fs) |
deletion |
not provided [RCV000520486] |
Chr10:71819499 [GRCh38] Chr10:73579256 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_002778.4(PSAP):c.*935A>G |
single nucleotide variant |
Combined PSAP deficiency [RCV000346885]|Gaucher disease due to saposin C deficiency [RCV000407853]|Krabbe disease due to saposin A deficiency [RCV000307133]|Sphingolipid activator protein 1 deficiency [RCV000352616] |
Chr10:71816506 [GRCh38] Chr10:73576263 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000301703]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001108528]|CDH23-Related Disorders [RCV000381558]|Combined PSAP deficiency [RCV000308301]|Galactosylceramide beta-galactosidase deficiency [RCV000395744]|Metachromatic leukodystrophy [RCV000360078]|Nonsyndromic Hearing Loss, Recessive [RCV000290748]|Retinitis pigmentosa-deafness syndrome [RCV000345678]|Usher syndrome type 1 [RCV001826835]|Usher syndrome type 1D [RCV001108527]|not provided [RCV000902585]|not specified [RCV000155061] |
Chr10:71815239 [GRCh38] Chr10:73574996 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000298108]|Combined PSAP deficiency [RCV000353393]|Galactosylceramide beta-galactosidase deficiency [RCV000313766]|Metachromatic leukodystrophy [RCV000277348]|Nonsyndromic Hearing Loss, Recessive [RCV000371681]|Retinitis pigmentosa-deafness syndrome [RCV000317072]|Usher syndrome type 1 [RCV001276933]|Usher syndrome type 1D [RCV001526764]|not provided [RCV001241617]|not specified [RCV000155059] |
Chr10:71812886 [GRCh38] Chr10:73572643 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.9510+13C>T |
single nucleotide variant |
Atypical Gaucher Disease [RCV000380976]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106215]|Combined PSAP deficiency [RCV000346745]|Galactosylceramide beta-galactosidase deficiency [RCV000286477]|Metachromatic leukodystrophy [RCV000341426]|Usher syndrome type 1 [RCV001276930]|Usher syndrome type 1D [RCV001106216]|not provided [RCV001520244]|not specified [RCV000155615] |
Chr10:71812622 [GRCh38] Chr10:73572379 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_001042465.2(PSAP):c.-118G>A |
single nucleotide variant |
Atypical Gaucher Disease [RCV000259641]|Combined PSAP deficiency [RCV000395916]|Galactosylceramide beta-galactosidase deficiency [RCV000355868]|Metachromatic leukodystrophy [RCV000303370] |
Chr10:71851339 [GRCh38] Chr10:73611096 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000319045]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106306]|CDH23-Related Disorders [RCV000324392]|Combined PSAP deficiency [RCV000266027]|Galactosylceramide beta-galactosidase deficiency [RCV000375963]|Metachromatic leukodystrophy [RCV000279075]|Nonsyndromic Hearing Loss, Recessive [RCV000260328]|Retinitis pigmentosa-deafness syndrome [RCV000378954]|Usher syndrome type 1 [RCV001272666]|Usher syndrome type 1D [RCV001106305]|not provided [RCV000898457]|not specified [RCV000603434] |
Chr10:71815155 [GRCh38] Chr10:73574912 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.*80G>A |
single nucleotide variant |
Atypical Gaucher Disease [RCV000260479]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001105270]|Combined PSAP deficiency [RCV000332344]|Galactosylceramide beta-galactosidase deficiency [RCV000389276]|Metachromatic leukodystrophy [RCV000292479]|Usher syndrome type 1D [RCV001105271] |
Chr10:71815358 [GRCh38] Chr10:73575115 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.3(PSAP):c.-99T>G |
single nucleotide variant |
Atypical Gaucher Disease [RCV000336843]|Combined PSAP deficiency [RCV000371619]|Galactosylceramide beta-galactosidase deficiency [RCV000375131]|Metachromatic leukodystrophy [RCV000279433] |
Chr10:71851320 [GRCh38] Chr10:73611077 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.*68G>C |
single nucleotide variant |
Atypical Gaucher Disease [RCV000358885]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001105267]|CDH23-Related Disorders [RCV000353011]|Combined PSAP deficiency [RCV000319096]|Galactosylceramide beta-galactosidase deficiency [RCV000261585]|Metachromatic leukodystrophy [RCV000353004]|Nonsyndromic Hearing Loss, Recessive [RCV000298093]|Retinitis pigmentosa-deafness syndrome [RCV000404597]|Usher syndrome type 1D [RCV001105266] |
Chr10:71815346 [GRCh38] Chr10:73575103 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.*510G>A |
single nucleotide variant |
Atypical Gaucher Disease [RCV000320461]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001108679]|Combined PSAP deficiency [RCV000377475]|Galactosylceramide beta-galactosidase deficiency [RCV000261813]|Metachromatic leukodystrophy [RCV000267207]|Nonsyndromic Hearing Loss, Recessive [RCV000274238]|Retinitis pigmentosa-deafness syndrome [RCV000320011]|Usher syndrome type 1D [RCV001108678]|not provided [RCV001683212] |
Chr10:71815788 [GRCh38] Chr10:73575545 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_002778.4(PSAP):c.*891G>A |
single nucleotide variant |
Combined PSAP deficiency [RCV000356626]|Gaucher disease due to saposin C deficiency [RCV000261832]|Krabbe disease due to saposin A deficiency [RCV000405012]|Nonsyndromic Hearing Loss, Recessive [RCV000291291]|Retinitis pigmentosa-deafness syndrome [RCV000344085]|Sphingolipid activator protein 1 deficiency [RCV000311054]|not provided [RCV001689996] |
Chr10:71816550 [GRCh38] Chr10:73576307 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000298268]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001105177]|CDH23-Related Disorders [RCV000313005]|Combined PSAP deficiency [RCV000404504]|Galactosylceramide beta-galactosidase deficiency [RCV000406507]|Inborn genetic diseases [RCV003165815]|Metachromatic leukodystrophy [RCV000350786]|Nonsyndromic Hearing Loss, Recessive [RCV000367632]|Retinitis pigmentosa-deafness syndrome [RCV000263857]|Usher syndrome type 1 [RCV001833437]|Usher syndrome type 1D [RCV001105176]|not provided [RCV002051835]|not specified [RCV000612885] |
Chr10:71815073 [GRCh38] Chr10:73574830 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002778.4(PSAP):c.380G>A (p.Arg127His) |
single nucleotide variant |
Combined PSAP deficiency [RCV000298228]|Gaucher disease due to saposin C deficiency [RCV000408327]|Krabbe disease due to saposin A deficiency [RCV000370513]|Sphingolipid activator protein 1 deficiency [RCV000311141] |
Chr10:71829073 [GRCh38] Chr10:73588830 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.*361C>A |
single nucleotide variant |
Atypical Gaucher Disease [RCV000271219]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001103426]|Combined PSAP deficiency [RCV000269900]|Galactosylceramide beta-galactosidase deficiency [RCV000328475]|Metachromatic leukodystrophy [RCV000380695]|Nonsyndromic Hearing Loss, Recessive [RCV000402848]|Retinitis pigmentosa-deafness syndrome [RCV000365801]|Usher syndrome type 1D [RCV001103427]|not provided [RCV001848072] |
Chr10:71815639 [GRCh38] Chr10:73575396 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.*478G>C |
single nucleotide variant |
Atypical Gaucher Disease [RCV000365100]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106490]|Combined PSAP deficiency [RCV000307212]|Galactosylceramide beta-galactosidase deficiency [RCV000273164]|Metachromatic leukodystrophy [RCV000364174]|Usher syndrome type 1D [RCV001106489] |
Chr10:71815756 [GRCh38] Chr10:73575513 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.9739-12G>A |
single nucleotide variant |
Atypical Gaucher Disease [RCV000368470]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001103258]|CDH23-Related Disorders [RCV000407660]|Combined PSAP deficiency [RCV000328937]|Galactosylceramide beta-galactosidase deficiency [RCV000273893]|Metachromatic leukodystrophy [RCV000383482]|Nonsyndromic Hearing Loss, Recessive [RCV000347081]|Retinitis pigmentosa-deafness syndrome [RCV000282753]|Usher syndrome type 1D [RCV001103257]|not provided [RCV001505966] |
Chr10:71814940 [GRCh38] Chr10:73574697 [GRCh37] Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.*349A>G |
single nucleotide variant |
Atypical Gaucher Disease [RCV000311190]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001108610]|Combined PSAP deficiency [RCV000277087]|Galactosylceramide beta-galactosidase deficiency [RCV000369416]|Metachromatic leukodystrophy [RCV000368083]|Nonsyndromic Hearing Loss, Recessive [RCV000407454]|Retinitis pigmentosa-deafness syndrome [RCV000301787]|Usher syndrome type 1D [RCV001108611]|not provided [RCV001530530] |
Chr10:71815627 [GRCh38] Chr10:73575384 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.*430A>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001103431]|CDH23-Related Disorders [RCV000277041]|Combined PSAP deficiency [RCV000283671]|Gaucher disease due to saposin C deficiency [RCV000380533]|Krabbe disease due to saposin A deficiency [RCV000322706]|Nonsyndromic Hearing Loss, Recessive [RCV000362197]|Retinitis pigmentosa-deafness syndrome [RCV000307445]|Sphingolipid activator protein 1 deficiency [RCV000340975]|Usher syndrome type 1D [RCV001103430] |
Chr10:71815708 [GRCh38] Chr10:73575465 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.*515C>A |
single nucleotide variant |
Atypical Gaucher Disease [RCV000279258]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001108680]|Combined PSAP deficiency [RCV000350653]|Galactosylceramide beta-galactosidase deficiency [RCV000371463]|Metachromatic leukodystrophy [RCV000319279]|Nonsyndromic Hearing Loss, Recessive [RCV000280245]|Retinitis pigmentosa-deafness syndrome [RCV000374819]|Usher syndrome type 1D [RCV001108681] |
Chr10:71815793 [GRCh38] Chr10:73575550 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.9319+11G>A |
single nucleotide variant |
Atypical Gaucher Disease [RCV000301429]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001105082]|Combined PSAP deficiency [RCV000265040]|Galactosylceramide beta-galactosidase deficiency [RCV000359537]|Metachromatic leukodystrophy [RCV000305041]|Nonsyndromic Hearing Loss, Recessive [RCV000405954]|Retinitis pigmentosa-deafness syndrome [RCV000312528]|Usher syndrome type 1D [RCV001105081]|not provided [RCV001523600]|not specified [RCV000039307] |
Chr10:71811764 [GRCh38] Chr10:73571521 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000389375]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001105085]|Combined PSAP deficiency [RCV000261040]|Galactosylceramide beta-galactosidase deficiency [RCV000316294]|Metachromatic leukodystrophy [RCV000356182]|Nonsyndromic Hearing Loss, Recessive [RCV000271717]|Retinitis pigmentosa-deafness syndrome [RCV000363966]|Usher syndrome type 1 [RCV001276927]|Usher syndrome type 1D [RCV001105086]|not provided [RCV000086979]|not specified [RCV000039308] |
Chr10:71812008 [GRCh38] Chr10:73571765 [GRCh37] Chr10:10q22.1 |
benign|likely benign|not provided |
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000331531]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106213]|Combined PSAP deficiency [RCV000386012]|Galactosylceramide beta-galactosidase deficiency [RCV000291787]|Metachromatic leukodystrophy [RCV000276340]|Usher syndrome type 1 [RCV001276928]|Usher syndrome type 1D [RCV001106214]|not provided [RCV000888298]|not specified [RCV000039310] |
Chr10:71812600 [GRCh38] Chr10:73572357 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000270308]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001103259]|Combined PSAP deficiency [RCV000285800]|Galactosylceramide beta-galactosidase deficiency [RCV000325564]|Metachromatic leukodystrophy [RCV000380222]|Usher syndrome type 1 [RCV001276934]|Usher syndrome type 1D [RCV001103260]|not provided [RCV000889474]|not specified [RCV000039316] |
Chr10:71814971 [GRCh38] Chr10:73574728 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000394283]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001105179]|Combined PSAP deficiency [RCV000309875]|Galactosylceramide beta-galactosidase deficiency [RCV000368018]|Metachromatic leukodystrophy [RCV000311112]|Nonsyndromic Hearing Loss, Recessive [RCV000355079]|Retinitis pigmentosa-deafness syndrome [RCV000300347]|Usher syndrome type 1 [RCV001271954]|Usher syndrome type 1D [RCV001105178]|not provided [RCV001510618]|not specified [RCV000039317] |
Chr10:71815086 [GRCh38] Chr10:73574843 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000358601]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106300]|Combined PSAP deficiency [RCV000267313]|Galactosylceramide beta-galactosidase deficiency [RCV000362216]|Metachromatic leukodystrophy [RCV000324862]|Usher syndrome type 1 [RCV001271956]|Usher syndrome type 1D [RCV001106299]|not provided [RCV000886795]|not specified [RCV000039318] |
Chr10:71815116 [GRCh38] Chr10:73574873 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000317831]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001108523]|Combined PSAP deficiency [RCV000388265]|Galactosylceramide beta-galactosidase deficiency [RCV000296257]|Metachromatic leukodystrophy [RCV000348937]|Usher syndrome type 1 [RCV001271957]|Usher syndrome type 1D [RCV001108524]|not provided [RCV000965145]|not specified [RCV000039319] |
Chr10:71815191 [GRCh38] Chr10:73574948 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.*141G>A |
single nucleotide variant |
Atypical Gaucher Disease [RCV000339517]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106402]|CDH23-Related Disorders [RCV000280807]|Combined PSAP deficiency [RCV000403587]|Galactosylceramide beta-galactosidase deficiency [RCV000286901]|Metachromatic leukodystrophy [RCV000407781]|Nonsyndromic Hearing Loss, Recessive [RCV000335794]|Retinitis pigmentosa-deafness syndrome [RCV000407452]|Usher syndrome type 1D [RCV001106401] |
Chr10:71815419 [GRCh38] Chr10:73575176 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000337406]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001103262]|CDH23-Related Disorders [RCV000403860]|Combined PSAP deficiency [RCV000282351]|Galactosylceramide beta-galactosidase deficiency [RCV000340738]|Metachromatic leukodystrophy [RCV000376807]|Nonsyndromic Hearing Loss, Recessive [RCV000307536]|Retinitis pigmentosa-deafness syndrome [RCV000352717]|Usher syndrome type 1D [RCV001103261]|not provided [RCV002520625] |
Chr10:71815012 [GRCh38] Chr10:73574769 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.*434G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001105353]|Combined PSAP deficiency [RCV000374590]|Gaucher disease due to saposin C deficiency [RCV000404105]|Krabbe disease due to saposin A deficiency [RCV000335403]|Nonsyndromic Hearing Loss, Recessive [RCV000332915]|Retinitis pigmentosa-deafness syndrome [RCV000368897]|Sphingolipid activator protein 1 deficiency [RCV000282687]|Usher syndrome type 1D [RCV001105354] |
Chr10:71815712 [GRCh38] Chr10:73575469 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_022124.6(CDH23):c.*588del |
deletion |
Atypical Gaucher Disease [RCV000407274]|CDH23-Related Disorders [RCV000285698]|Combined PSAP deficiency [RCV000292556]|Galactosylceramide beta-galactosidase deficiency [RCV000388913]|Metachromatic leukodystrophy [RCV000349779]|Nonsyndromic Hearing Loss, Recessive [RCV000316739]|Retinitis pigmentosa-deafness syndrome [RCV000380623] |
Chr10:71815864 [GRCh38] Chr10:73575621 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.*204A>G |
single nucleotide variant |
Atypical Gaucher Disease [RCV000390678]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001108606]|Combined PSAP deficiency [RCV000299894]|Galactosylceramide beta-galactosidase deficiency [RCV000338493]|Metachromatic leukodystrophy [RCV000298356]|Nonsyndromic Hearing Loss, Recessive [RCV000341473]|Retinitis pigmentosa-deafness syndrome [RCV000286621]|Usher syndrome type 1D [RCV001108607]|not provided [RCV001672430] |
Chr10:71815482 [GRCh38] Chr10:73575239 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_022124.6(CDH23):c.9510+19_9510+25del |
deletion |
Atypical Gaucher Disease [RCV000396275]|Combined PSAP deficiency [RCV000337881]|Galactosylceramide beta-galactosidase deficiency [RCV000402429]|Metachromatic leukodystrophy [RCV000301614]|Usher syndrome type 1 [RCV001276931]|Usher syndrome type 1D [RCV000119817]|not provided [RCV001523525]|not specified [RCV000604131] |
Chr10:71812625..71812631 [GRCh38] Chr10:73572382..73572388 [GRCh37] Chr10:10q22.1 |
benign|uncertain significance |
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000290496]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001108526]|Combined PSAP deficiency [RCV000347839]|Galactosylceramide beta-galactosidase deficiency [RCV000402629]|Metachromatic leukodystrophy [RCV000405901]|Usher syndrome type 1 [RCV001271959]|Usher syndrome type 1D [RCV001108525]|not provided [RCV001053104]|not specified [RCV000613082] |
Chr10:71815196 [GRCh38] Chr10:73574953 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_022124.6(CDH23):c.*104G>C |
single nucleotide variant |
Atypical Gaucher Disease [RCV000344023]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106399]|Combined PSAP deficiency [RCV000331077]|Galactosylceramide beta-galactosidase deficiency [RCV000383526]|Metachromatic leukodystrophy [RCV000291512]|Nonsyndromic Hearing Loss, Recessive [RCV000325433]|Retinitis pigmentosa-deafness syndrome [RCV000388243]|Usher syndrome type 1D [RCV001106400] |
Chr10:71815382 [GRCh38] Chr10:73575139 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.3(PSAP):c.-50G>T |
single nucleotide variant |
Atypical Gaucher Disease [RCV000301040]|Combined PSAP deficiency [RCV000336145]|Galactosylceramide beta-galactosidase deficiency [RCV000399236]|Metachromatic leukodystrophy [RCV000278698] |
Chr10:71851271 [GRCh38] Chr10:73611028 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) |
single nucleotide variant |
Atypical Gaucher Disease [RCV000308492]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001103168]|CDH23-Related Disorders [RCV000407582]|Combined PSAP deficiency [RCV000363140]|Galactosylceramide beta-galactosidase deficiency [RCV000396018]|Metachromatic leukodystrophy [RCV000403032]|Nonsyndromic Hearing Loss, Recessive [RCV000299495]|Retinitis pigmentosa-deafness syndrome [RCV000338320]|Usher syndrome type 1D [RCV001103169]|not provided [RCV002520624] |
Chr10:71811725 [GRCh38] Chr10:73571482 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.679_681del (p.Lys227del) |
deletion |
Combined PSAP deficiency [RCV001528144]|Gaucher disease due to saposin C deficiency [RCV002477518]|Metachromatic leukodystrophy [RCV002307590]|PSAP-related condition [RCV003420203]|Sphingolipid activator protein 1 deficiency [RCV000755006] |
Chr10:71828053..71828055 [GRCh38] Chr10:73587810..73587812 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_002778.4(PSAP):c.1369G>T (p.Glu457Ter) |
single nucleotide variant |
Gaucher disease due to saposin C deficiency [RCV000505561] |
Chr10:71819093 [GRCh38] Chr10:73578850 [GRCh37] Chr10:10q22.1 |
pathogenic |
GRCh37/hg19 10q22.1(chr10:73592341-73810742)x3 |
copy number gain |
See cases [RCV000446453] |
Chr10:73592341..73810742 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 |
copy number gain |
See cases [RCV000448750] |
Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_002778.4(PSAP):c.409C>G (p.Leu137Val) |
single nucleotide variant |
Combined PSAP deficiency [RCV001335064]|Metachromatic leukodystrophy [RCV001272680]|Sphingolipid activator protein 1 deficiency [RCV001084808]|not provided [RCV000484673] |
Chr10:71829044 [GRCh38] Chr10:73588801 [GRCh37] Chr10:10q22.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) |
copy number gain |
See cases [RCV000511389] |
Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 |
copy number gain |
See cases [RCV000510861] |
Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_002778.4(PSAP):c.257T>A (p.Ile86Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV000624741]|Krabbe disease due to saposin A deficiency [RCV001731817] |
Chr10:71831244 [GRCh38] Chr10:73591001 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic|uncertain significance |
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] |
Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3 |
drug response |
NM_002778.4(PSAP):c.1238A>G (p.Lys413Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003295001] |
Chr10:71819577 [GRCh38] Chr10:73579334 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.607C>T (p.Gln203Ter) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002529049]|not provided [RCV000578629] |
Chr10:71828127 [GRCh38] Chr10:73587884 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.10C>G (p.Leu4Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001834647]|Sphingolipid activator protein 1 deficiency [RCV001087790]|not provided [RCV000512836] |
Chr10:71851212 [GRCh38] Chr10:73610969 [GRCh37] Chr10:10q22.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002778.4(PSAP):c.128G>A (p.Gly43Glu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001829458]|Sphingolipid activator protein 1 deficiency [RCV001088093]|not provided [RCV000513446] |
Chr10:71834418 [GRCh38] Chr10:73594175 [GRCh37] Chr10:10q22.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002778.4(PSAP):c.1006-21C>T |
single nucleotide variant |
not provided [RCV000676142] |
Chr10:71819921 [GRCh38] Chr10:73579678 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_002778.4(PSAP):c.1432-22C>T |
single nucleotide variant |
Combined PSAP deficiency [RCV001538005]|Krabbe disease due to saposin A deficiency [RCV001538006]|Sphingolipid activator protein 1 deficiency [RCV001538007]|not provided [RCV000676138] |
Chr10:71818746 [GRCh38] Chr10:73578503 [GRCh37] Chr10:10q22.1 |
benign |
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 |
copy number gain |
not provided [RCV000683289] |
Chr10:69040366..93194993 [GRCh37] Chr10:10q21.3-23.32 |
pathogenic |
NM_002778.4(PSAP):c.1294A>T (p.Ile432Phe) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001830548]|Sphingolipid activator protein 1 deficiency [RCV000701117]|not provided [RCV002462050] |
Chr10:71819521 [GRCh38] Chr10:73579278 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.450C>A (p.His150Gln) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001830492]|Sphingolipid activator protein 1 deficiency [RCV000688161] |
Chr10:71829003 [GRCh38] Chr10:73588760 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 |
copy number gain |
not provided [RCV000749465] |
Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 |
copy number gain |
not provided [RCV000749464] |
Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_002778.4(PSAP):c.405C>T (p.Leu135=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV000940149] |
Chr10:71829048 [GRCh38] Chr10:73588805 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.778-123del |
deletion |
not provided [RCV001645970] |
Chr10:71822130 [GRCh38] Chr10:73581887 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.174+301C>T |
single nucleotide variant |
not provided [RCV001611527] |
Chr10:71834071 [GRCh38] Chr10:73593828 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.1114C>T (p.Leu372=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV000979495] |
Chr10:71819792 [GRCh38] Chr10:73579549 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1350+9del |
deletion |
Sphingolipid activator protein 1 deficiency [RCV000979504] |
Chr10:71819456 [GRCh38] Chr10:73579213 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1215C>T (p.Asp405=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV000941196] |
Chr10:71819600 [GRCh38] Chr10:73579357 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1235G>A (p.Cys412Tyr) |
single nucleotide variant |
Parkinson disease 24, autosomal dominant, susceptibility to [RCV001580603] |
Chr10:71819580 [GRCh38] Chr10:73579337 [GRCh37] Chr10:10q22.1 |
risk factor |
NM_002778.4(PSAP):c.613_615dup (p.Val205dup) |
duplication |
Sphingolipid activator protein 1 deficiency [RCV001004877] |
Chr10:71828118..71828119 [GRCh38] Chr10:73587875..73587876 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.28C>T (p.Leu10Phe) |
single nucleotide variant |
Combined PSAP deficiency [RCV001328992]|Sphingolipid activator protein 1 deficiency [RCV001858787]|not provided [RCV000994442] |
Chr10:71851194 [GRCh38] Chr10:73610951 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.249+37G>A |
single nucleotide variant |
not provided [RCV001551375] |
Chr10:71831809 [GRCh38] Chr10:73591566 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1006-130T>A |
single nucleotide variant |
not provided [RCV001570126] |
Chr10:71820030 [GRCh38] Chr10:73579787 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1431G>A (p.Leu477=) |
single nucleotide variant |
Parkinson disease 24, autosomal dominant, susceptibility to [RCV001580602] |
Chr10:71819031 [GRCh38] Chr10:73578788 [GRCh37] Chr10:10q22.1 |
risk factor |
NM_002778.4(PSAP):c.470A>G (p.Asn157Ser) |
single nucleotide variant |
Parkinson disease, late-onset [RCV001836944]|Sphingolipid activator protein 1 deficiency [RCV002554808] |
Chr10:71828983 [GRCh38] Chr10:73588740 [GRCh37] Chr10:10q22.1 |
pathogenic|uncertain significance |
NM_002778.4(PSAP):c.1540-319G>A |
single nucleotide variant |
not provided [RCV001612090] |
Chr10:71817795 [GRCh38] Chr10:73577552 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.576+160G>C |
single nucleotide variant |
not provided [RCV001582243] |
Chr10:71828717 [GRCh38] Chr10:73588474 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1161C>G (p.Leu387=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV000900564] |
Chr10:71819745 [GRCh38] Chr10:73579502 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1281C>T (p.Ser427=) |
single nucleotide variant |
Combined PSAP deficiency [RCV001579247]|Krabbe disease due to saposin A deficiency [RCV001579113]|Metachromatic leukodystrophy [RCV001272670]|Sphingolipid activator protein 1 deficiency [RCV000925688] |
Chr10:71819534 [GRCh38] Chr10:73579291 [GRCh37] Chr10:10q22.1 |
benign|likely benign|uncertain significance |
NM_002778.4(PSAP):c.186C>T (p.Pro62=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV000922986] |
Chr10:71831909 [GRCh38] Chr10:73591666 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.588C>T (p.Asp196=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001825865]|Sphingolipid activator protein 1 deficiency [RCV000924976]|not provided [RCV001815460] |
Chr10:71828146 [GRCh38] Chr10:73587903 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.855C>T (p.Ala285=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001280274]|Sphingolipid activator protein 1 deficiency [RCV000923352] |
Chr10:71821930 [GRCh38] Chr10:73581687 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.1233G>A (p.Val411=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001272672]|Sphingolipid activator protein 1 deficiency [RCV001416264] |
Chr10:71819582 [GRCh38] Chr10:73579339 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.6C>T (p.Tyr2=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001272683]|Sphingolipid activator protein 1 deficiency [RCV000967851] |
Chr10:71851216 [GRCh38] Chr10:73610973 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.87G>C (p.Ser29=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001431510] |
Chr10:71834459 [GRCh38] Chr10:73594216 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1425G>T (p.Val475=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001505085] |
Chr10:71819037 [GRCh38] Chr10:73578794 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.990C>T (p.Asp330=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001435063] |
Chr10:71820255 [GRCh38] Chr10:73580012 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.844C>T (p.Leu282=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001431049] |
Chr10:71821941 [GRCh38] Chr10:73581698 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.807G>C (p.Gly269=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV000976359] |
Chr10:71821978 [GRCh38] Chr10:73581735 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.864C>T (p.Ala288=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001272676]|Sphingolipid activator protein 1 deficiency [RCV000926233]|not provided [RCV003413728] |
Chr10:71821921 [GRCh38] Chr10:73581678 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.852C>T (p.Pro284=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001272677]|Sphingolipid activator protein 1 deficiency [RCV000924634] |
Chr10:71821933 [GRCh38] Chr10:73581690 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.16C>T (p.Leu6Phe) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001272682]|Sphingolipid activator protein 1 deficiency [RCV000974739] |
Chr10:71851206 [GRCh38] Chr10:73610963 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_002778.4(PSAP):c.208G>T (p.Val70Phe) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV000981719]|not specified [RCV003479257] |
Chr10:71831887 [GRCh38] Chr10:73591644 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.570G>A (p.Gln190=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001825825]|Sphingolipid activator protein 1 deficiency [RCV000906856] |
Chr10:71828883 [GRCh38] Chr10:73588640 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.40+7C>T |
single nucleotide variant |
not provided [RCV000932870] |
Chr10:71851175 [GRCh38] Chr10:73610932 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1350+9C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV000940189] |
Chr10:71819456 [GRCh38] Chr10:73579213 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1311G>A (p.Glu437=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV000937549] |
Chr10:71819504 [GRCh38] Chr10:73579261 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1017C>T (p.Leu339=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001272674]|Sphingolipid activator protein 1 deficiency [RCV000943030] |
Chr10:71819889 [GRCh38] Chr10:73579646 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.141C>T (p.His47=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV000919668] |
Chr10:71834405 [GRCh38] Chr10:73594162 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1146C>T (p.Cys382=) |
single nucleotide variant |
Combined PSAP deficiency [RCV001107536]|Gaucher disease due to saposin C deficiency [RCV001107537]|Krabbe disease due to saposin A deficiency [RCV001107538]|Metachromatic leukodystrophy [RCV001272673]|Sphingolipid activator protein 1 deficiency [RCV000943827] |
Chr10:71819760 [GRCh38] Chr10:73579517 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002778.4(PSAP):c.966G>A (p.Val322=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001272675]|Sphingolipid activator protein 1 deficiency [RCV000928373] |
Chr10:71820279 [GRCh38] Chr10:73580036 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.741G>A (p.Gln247=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001479180] |
Chr10:71825873 [GRCh38] Chr10:73585630 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.549C>T (p.Asp183=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001394076] |
Chr10:71828904 [GRCh38] Chr10:73588661 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.174+10G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV000939109] |
Chr10:71834362 [GRCh38] Chr10:73594119 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1479G>A (p.Glu493=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV000977000] |
Chr10:71818677 [GRCh38] Chr10:73578434 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1431+78_1431+83del |
deletion |
not provided [RCV000840527] |
Chr10:71818948..71818953 [GRCh38] Chr10:73578705..73578710 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.1422C>T (p.Phe474=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001280263]|Sphingolipid activator protein 1 deficiency [RCV000891763]|not provided [RCV003413714] |
Chr10:71819040 [GRCh38] Chr10:73578797 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.638G>A (p.Arg213Gln) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001271963]|Sphingolipid activator protein 1 deficiency [RCV000820422] |
Chr10:71828096 [GRCh38] Chr10:73587853 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.415G>A (p.Glu139Lys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001272679]|Sphingolipid activator protein 1 deficiency [RCV000805765] |
Chr10:71829038 [GRCh38] Chr10:73588795 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.41-237C>T |
single nucleotide variant |
not provided [RCV000840521] |
Chr10:71834742 [GRCh38] Chr10:73594499 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.174+216T>C |
single nucleotide variant |
not provided [RCV000840522] |
Chr10:71834156 [GRCh38] Chr10:73593913 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.250-141A>G |
single nucleotide variant |
not provided [RCV000840523] |
Chr10:71831392 [GRCh38] Chr10:73591149 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.777+1645del |
deletion |
not provided [RCV000840525] |
Chr10:71824192 [GRCh38] Chr10:73583949 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.778-1756C>G |
single nucleotide variant |
not provided [RCV000840526] |
Chr10:71823763 [GRCh38] Chr10:73583520 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.1138C>T (p.Leu380=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001827101]|Sphingolipid activator protein 1 deficiency [RCV001404726] |
Chr10:71819768 [GRCh38] Chr10:73579525 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1374C>T (p.Tyr458=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001272669]|Sphingolipid activator protein 1 deficiency [RCV000898102] |
Chr10:71819088 [GRCh38] Chr10:73578845 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NC_000010.11:g.(?_71828004)_(71834515_?)dup |
duplication |
Sphingolipid activator protein 1 deficiency [RCV001032659] |
Chr10:73587761..73594272 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_002778.4(PSAP):c.1348C>T (p.Gln450Ter) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001212745] |
Chr10:71819467 [GRCh38] Chr10:73579224 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.*526G>A |
single nucleotide variant |
Combined PSAP deficiency [RCV001103617]|Gaucher disease due to saposin C deficiency [RCV001103618]|Krabbe disease due to saposin A deficiency [RCV001103616]|Sphingolipid activator protein 1 deficiency [RCV001103615] |
Chr10:71816915 [GRCh38] Chr10:73576672 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.249+6C>T |
single nucleotide variant |
Combined PSAP deficiency [RCV001104402]|Gaucher disease due to saposin C deficiency [RCV001104400]|Inborn genetic diseases [RCV002555021]|Krabbe disease due to saposin A deficiency [RCV001104401]|Sphingolipid activator protein 1 deficiency [RCV001104399] |
Chr10:71831840 [GRCh38] Chr10:73591597 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.*787C>T |
single nucleotide variant |
Combined PSAP deficiency [RCV001105456]|Gaucher disease due to saposin C deficiency [RCV001105455]|Krabbe disease due to saposin A deficiency [RCV001106601]|Sphingolipid activator protein 1 deficiency [RCV001106600] |
Chr10:71816654 [GRCh38] Chr10:73576411 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.249+192T>C |
single nucleotide variant |
not provided [RCV001552079] |
Chr10:71831654 [GRCh38] Chr10:73591411 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.589G>T (p.Val197Phe) |
single nucleotide variant |
not specified [RCV003317828] |
Chr10:71828145 [GRCh38] Chr10:73587902 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.175-117C>T |
single nucleotide variant |
not provided [RCV001695986] |
Chr10:71832037 [GRCh38] Chr10:73591794 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.1351-26A>G |
single nucleotide variant |
not provided [RCV001609181] |
Chr10:71819137 [GRCh38] Chr10:73578894 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.1005+44C>T |
single nucleotide variant |
not provided [RCV001552903] |
Chr10:71820196 [GRCh38] Chr10:73579953 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1122G>A (p.Glu374=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV000930209] |
Chr10:71819784 [GRCh38] Chr10:73579541 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.153C>T (p.Thr51=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001272681]|Sphingolipid activator protein 1 deficiency [RCV000907141] |
Chr10:71834393 [GRCh38] Chr10:73594150 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.942C>T (p.Tyr314=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001459636] |
Chr10:71820303 [GRCh38] Chr10:73580060 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.249+9C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001505974] |
Chr10:71831837 [GRCh38] Chr10:73591594 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.576+7C>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001435529] |
Chr10:71828870 [GRCh38] Chr10:73588627 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.117G>A (p.Ala39=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001830942]|Sphingolipid activator protein 1 deficiency [RCV000887576] |
Chr10:71834429 [GRCh38] Chr10:73594186 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.351C>A (p.Ile117=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001456485] |
Chr10:71831150 [GRCh38] Chr10:73590907 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.120C>T (p.Ser40=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001832208]|Sphingolipid activator protein 1 deficiency [RCV000961169]|not provided [RCV003413758] |
Chr10:71834426 [GRCh38] Chr10:73594183 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_002778.4(PSAP):c.1389C>T (p.Ile463=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001825850]|Sphingolipid activator protein 1 deficiency [RCV000918601] |
Chr10:71819073 [GRCh38] Chr10:73578830 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.*346C>T |
single nucleotide variant |
Combined PSAP deficiency [RCV001105560]|Gaucher disease due to saposin C deficiency [RCV001105563]|Krabbe disease due to saposin A deficiency [RCV001105562]|Sphingolipid activator protein 1 deficiency [RCV001105561] |
Chr10:71817095 [GRCh38] Chr10:73576852 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1197C>T (p.His399=) |
single nucleotide variant |
Combined PSAP deficiency [RCV001106865]|Gaucher disease due to saposin C deficiency [RCV001106866]|Krabbe disease due to saposin A deficiency [RCV001106867]|Sphingolipid activator protein 1 deficiency [RCV001106864] |
Chr10:71819618 [GRCh38] Chr10:73579375 [GRCh37] Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_002778.4(PSAP):c.778-1889C>T |
single nucleotide variant |
not provided [RCV001169959] |
Chr10:71823896 [GRCh38] Chr10:73583653 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.*376A>G |
single nucleotide variant |
Combined PSAP deficiency [RCV001103620]|Gaucher disease due to saposin C deficiency [RCV001105559]|Krabbe disease due to saposin A deficiency [RCV001103619]|Sphingolipid activator protein 1 deficiency [RCV001105558] |
Chr10:71817065 [GRCh38] Chr10:73576822 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.1122G>C (p.Glu374Asp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001828962]|Sphingolipid activator protein 1 deficiency [RCV001240928] |
Chr10:71819784 [GRCh38] Chr10:73579541 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.565C>T (p.Pro189Ser) |
single nucleotide variant |
Combined PSAP deficiency [RCV001104312]|Gaucher disease due to saposin C deficiency [RCV001104309]|Krabbe disease due to saposin A deficiency [RCV001104311]|Sphingolipid activator protein 1 deficiency [RCV001104310]|not specified [RCV003235470] |
Chr10:71828888 [GRCh38] Chr10:73588645 [GRCh37] Chr10:10q22.1 |
benign|uncertain significance |
NM_002778.4(PSAP):c.721-1G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001244145] |
Chr10:71825894 [GRCh38] Chr10:73585651 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_002778.4(PSAP):c.250-5C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV000890064] |
Chr10:71831256 [GRCh38] Chr10:73591013 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1170C>T (p.Gly390=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002066151] |
Chr10:71819736 [GRCh38] Chr10:73579493 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1006-130T>C |
single nucleotide variant |
not provided [RCV001556620] |
Chr10:71820030 [GRCh38] Chr10:73579787 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1539+222A>T |
single nucleotide variant |
not provided [RCV001621860] |
Chr10:71818395 [GRCh38] Chr10:73578152 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.720+287del |
deletion |
not provided [RCV001555830] |
Chr10:71827727 [GRCh38] Chr10:73587484 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.41-56G>A |
single nucleotide variant |
not provided [RCV001556126] |
Chr10:71834561 [GRCh38] Chr10:73594318 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.576+213_576+214del |
deletion |
not provided [RCV001547550] |
Chr10:71828663..71828664 [GRCh38] Chr10:73588420..73588421 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.175-102C>A |
single nucleotide variant |
not provided [RCV001715877] |
Chr10:71832022 [GRCh38] Chr10:73591779 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.175-140A>C |
single nucleotide variant |
not provided [RCV001687275] |
Chr10:71832060 [GRCh38] Chr10:73591817 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.375+226G>A |
single nucleotide variant |
not provided [RCV001677072] |
Chr10:71830900 [GRCh38] Chr10:73590657 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.41-96G>A |
single nucleotide variant |
not provided [RCV001619718] |
Chr10:71834601 [GRCh38] Chr10:73594358 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.577-56G>A |
single nucleotide variant |
not provided [RCV001688892] |
Chr10:71828213 [GRCh38] Chr10:73587970 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.721-287C>G |
single nucleotide variant |
not provided [RCV001595733] |
Chr10:71826180 [GRCh38] Chr10:73585937 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.40+200G>A |
single nucleotide variant |
not provided [RCV001594326] |
Chr10:71850982 [GRCh38] Chr10:73610739 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.720+270dup |
duplication |
not provided [RCV001677173] |
Chr10:71827726..71827727 [GRCh38] Chr10:73587483..73587484 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.778-270C>T |
single nucleotide variant |
not provided [RCV001715343] |
Chr10:71822277 [GRCh38] Chr10:73582034 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.577-279C>T |
single nucleotide variant |
not provided [RCV001698528] |
Chr10:71828436 [GRCh38] Chr10:73588193 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.249+73C>T |
single nucleotide variant |
not provided [RCV001658699] |
Chr10:71831773 [GRCh38] Chr10:73591530 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.175-83C>T |
single nucleotide variant |
not provided [RCV001588596] |
Chr10:71832003 [GRCh38] Chr10:73591760 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.41-53C>T |
single nucleotide variant |
not provided [RCV001641142] |
Chr10:71834558 [GRCh38] Chr10:73594315 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.1329G>T (p.Leu443=) |
single nucleotide variant |
Combined PSAP deficiency [RCV001105747]|Gaucher disease due to saposin C deficiency [RCV001105748]|Krabbe disease due to saposin A deficiency [RCV001105745]|Sphingolipid activator protein 1 deficiency [RCV001105746] |
Chr10:71819486 [GRCh38] Chr10:73579243 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1A>G (p.Met1Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001833645]|Sphingolipid activator protein 1 deficiency [RCV001066448] |
Chr10:71851221 [GRCh38] Chr10:73610978 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.*737G>A |
single nucleotide variant |
Combined PSAP deficiency [RCV001106602]|Gaucher disease due to saposin C deficiency [RCV001108768]|Krabbe disease due to saposin A deficiency [RCV001108767]|Sphingolipid activator protein 1 deficiency [RCV001106603] |
Chr10:71816704 [GRCh38] Chr10:73576461 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.*238G>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 12 [RCV001106701]|Combined PSAP deficiency [RCV001106705]|Gaucher disease due to saposin C deficiency [RCV001106702]|Krabbe disease due to saposin A deficiency [RCV001106703]|Sphingolipid activator protein 1 deficiency [RCV001106704]|Usher syndrome type 1D [RCV001106700] |
Chr10:71817203 [GRCh38] Chr10:73576960 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.423C>T (p.Leu141=) |
single nucleotide variant |
Combined PSAP deficiency [RCV001107069]|Gaucher disease due to saposin C deficiency [RCV001107067]|Krabbe disease due to saposin A deficiency [RCV001107070]|Sphingolipid activator protein 1 deficiency [RCV001107068] |
Chr10:71829030 [GRCh38] Chr10:73588787 [GRCh37] Chr10:10q22.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002778.4(PSAP):c.*596A>G |
single nucleotide variant |
Combined PSAP deficiency [RCV001108771]|Gaucher disease due to saposin C deficiency [RCV001108770]|Krabbe disease due to saposin A deficiency [RCV001108772]|Sphingolipid activator protein 1 deficiency [RCV001108769] |
Chr10:71816845 [GRCh38] Chr10:73576602 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.40+145CTTTCTCTGG[3] |
microsatellite |
not provided [RCV001588458] |
Chr10:71851017..71851018 [GRCh38] Chr10:73610774..73610775 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1432-147G>A |
single nucleotide variant |
not provided [RCV001691019] |
Chr10:71818871 [GRCh38] Chr10:73578628 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.1005+129G>A |
single nucleotide variant |
not provided [RCV001647904] |
Chr10:71820111 [GRCh38] Chr10:73579868 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.1540-272del |
deletion |
not provided [RCV001609752] |
Chr10:71817748 [GRCh38] Chr10:73577505 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.1358A>C (p.Gln453Pro) |
single nucleotide variant |
Parkinson disease 24, autosomal dominant, susceptibility to [RCV001580601] |
Chr10:71819104 [GRCh38] Chr10:73578861 [GRCh37] Chr10:10q22.1 |
risk factor |
NM_002778.4(PSAP):c.778-1822dup |
duplication |
not provided [RCV001672111] |
Chr10:71823816..71823817 [GRCh38] Chr10:73583573..73583574 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.375+208G>A |
single nucleotide variant |
not provided [RCV001538581] |
Chr10:71830918 [GRCh38] Chr10:73590675 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.508C>G (p.Pro170Ala) |
single nucleotide variant |
Combined PSAP deficiency [RCV001107065]|Gaucher disease due to saposin C deficiency [RCV001107064]|Krabbe disease due to saposin A deficiency [RCV001107066]|Sphingolipid activator protein 1 deficiency [RCV001107063] |
Chr10:71828945 [GRCh38] Chr10:73588702 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.*1008C>T |
single nucleotide variant |
Combined PSAP deficiency [RCV001103522]|Gaucher disease due to saposin C deficiency [RCV001108683]|Krabbe disease due to saposin A deficiency [RCV001108682]|Sphingolipid activator protein 1 deficiency [RCV001103521] |
Chr10:71816433 [GRCh38] Chr10:73576190 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.419C>T (p.Ser140Phe) |
single nucleotide variant |
Combined PSAP deficiency [RCV001107737]|Gaucher disease due to saposin C deficiency [RCV001107736]|Krabbe disease due to saposin A deficiency [RCV001107738]|Sphingolipid activator protein 1 deficiency [RCV001107735] |
Chr10:71829034 [GRCh38] Chr10:73588791 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.*90C>T |
single nucleotide variant |
Combined PSAP deficiency [RCV001103715]|Gaucher disease due to saposin C deficiency [RCV001103717]|Krabbe disease due to saposin A deficiency [RCV001103718]|Sphingolipid activator protein 1 deficiency [RCV001103716] |
Chr10:71817351 [GRCh38] Chr10:73577108 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.645C>A (p.Asn215Lys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001827403]|Sphingolipid activator protein 1 deficiency [RCV001063288] |
Chr10:71828089 [GRCh38] Chr10:73587846 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_002778.4(PSAP):c.319A>C (p.Lys107Gln) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001034483] |
Chr10:71831182 [GRCh38] Chr10:73590939 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.816_823del (p.Asp272fs) |
deletion |
Sphingolipid activator protein 1 deficiency [RCV002570572]|not provided [RCV001254872] |
Chr10:71821962..71821969 [GRCh38] Chr10:73581719..73581726 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_002778.4(PSAP):c.113C>T (p.Thr38Met) |
single nucleotide variant |
Combined PSAP deficiency [RCV001335062]|Sphingolipid activator protein 1 deficiency [RCV002546710] |
Chr10:71834433 [GRCh38] Chr10:73594190 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1323C>G (p.Ser441Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001280265]|Sphingolipid activator protein 1 deficiency [RCV002541740] |
Chr10:71819492 [GRCh38] Chr10:73579249 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1539+215T>A |
single nucleotide variant |
not provided [RCV001663034] |
Chr10:71818402 [GRCh38] Chr10:73578159 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.1192G>A (p.Val398Ile) |
single nucleotide variant |
Gaucher disease due to saposin C deficiency [RCV002480920]|Metachromatic leukodystrophy [RCV001280268]|Sphingolipid activator protein 1 deficiency [RCV001871601] |
Chr10:71819714 [GRCh38] Chr10:73579471 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1137G>C (p.Glu379Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003355353]|Metachromatic leukodystrophy [RCV001280270]|Sphingolipid activator protein 1 deficiency [RCV002537887]|not provided [RCV003481049] |
Chr10:71819769 [GRCh38] Chr10:73579526 [GRCh37] Chr10:10q22.1 |
benign|uncertain significance |
NM_002778.4(PSAP):c.587A>G (p.Asp196Gly) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001280276] |
Chr10:71828147 [GRCh38] Chr10:73587904 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.41C>T (p.Ala14Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001277794] |
Chr10:71834505 [GRCh38] Chr10:73594262 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1018G>A (p.Asp340Asn) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001280272]|Sphingolipid activator protein 1 deficiency [RCV002537888] |
Chr10:71819888 [GRCh38] Chr10:73579645 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1557A>G (p.Lys519=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001280259] |
Chr10:71817459 [GRCh38] Chr10:73577216 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1495C>T (p.Pro499Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002542952]|Metachromatic leukodystrophy [RCV001280261]|Sphingolipid activator protein 1 deficiency [RCV002541739] |
Chr10:71818661 [GRCh38] Chr10:73578418 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1322G>A (p.Ser441Asn) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001280266]|Sphingolipid activator protein 1 deficiency [RCV001871600] |
Chr10:71819493 [GRCh38] Chr10:73579250 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.589G>A (p.Val197Ile) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001280275]|Sphingolipid activator protein 1 deficiency [RCV002542953] |
Chr10:71828145 [GRCh38] Chr10:73587902 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1350+10G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001414981] |
Chr10:71819455 [GRCh38] Chr10:73579212 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.714C>T (p.Ala238=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001394744] |
Chr10:71828020 [GRCh38] Chr10:73587777 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_001042465.2(PSAP):c.-130T>C |
single nucleotide variant |
Combined PSAP deficiency [RCV001537937]|Krabbe disease due to saposin A deficiency [RCV001537938]|Sphingolipid activator protein 1 deficiency [RCV001537939]|not provided [RCV001692463] |
Chr10:71851351 [GRCh38] Chr10:73611108 [GRCh37] Chr10:10q22.1 |
benign|likely benign |
NM_002778.4(PSAP):c.370G>C (p.Glu124Gln) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001277790]|Sphingolipid activator protein 1 deficiency [RCV002542883] |
Chr10:71831131 [GRCh38] Chr10:73590888 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.67A>G (p.Lys23Glu) |
single nucleotide variant |
Gaucher disease due to saposin C deficiency [RCV002504393]|Metachromatic leukodystrophy [RCV001277793] |
Chr10:71834479 [GRCh38] Chr10:73594236 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.910-7T>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001433669] |
Chr10:71820342 [GRCh38] Chr10:73580099 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.522C>T (p.Asn174=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001421405] |
Chr10:71828931 [GRCh38] Chr10:73588688 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1350+8C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001433261] |
Chr10:71819457 [GRCh38] Chr10:73579214 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1017C>G (p.Leu339=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001397272] |
Chr10:71819889 [GRCh38] Chr10:73579646 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1120del (p.Glu374fs) |
deletion |
Sphingolipid activator protein 1 deficiency [RCV001383261] |
Chr10:71819786 [GRCh38] Chr10:73579543 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.11T>C (p.Leu4Pro) |
single nucleotide variant |
Combined PSAP deficiency [RCV001335063]|Sphingolipid activator protein 1 deficiency [RCV001871865]|not provided [RCV001760435] |
Chr10:71851211 [GRCh38] Chr10:73610968 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.794G>A (p.Cys265Tyr) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001301283] |
Chr10:71821991 [GRCh38] Chr10:73581748 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1537A>G (p.Asn513Asp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001280260] |
Chr10:71818619 [GRCh38] Chr10:73578376 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1196A>G (p.His399Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001280267] |
Chr10:71819619 [GRCh38] Chr10:73579376 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1173G>A (p.Thr391=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001280269]|Sphingolipid activator protein 1 deficiency [RCV001434507] |
Chr10:71819733 [GRCh38] Chr10:73579490 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.577G>C (p.Asp193His) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001280278]|Sphingolipid activator protein 1 deficiency [RCV001871602] |
Chr10:71828157 [GRCh38] Chr10:73587914 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1432-3T>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001280262]|Sphingolipid activator protein 1 deficiency [RCV002537886] |
Chr10:71818727 [GRCh38] Chr10:73578484 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1381G>A (p.Val461Met) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001280264]|Sphingolipid activator protein 1 deficiency [RCV001871599] |
Chr10:71819081 [GRCh38] Chr10:73578838 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.578A>G (p.Asp193Gly) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001280277]|Sphingolipid activator protein 1 deficiency [RCV002069482]|not provided [RCV001354629] |
Chr10:71828156 [GRCh38] Chr10:73587913 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.916G>A (p.Glu306Lys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001280273]|Sphingolipid activator protein 1 deficiency [RCV002541742] |
Chr10:71820329 [GRCh38] Chr10:73580086 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.503T>C (p.Val168Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002542954]|Metachromatic leukodystrophy [RCV001280279] |
Chr10:71828950 [GRCh38] Chr10:73588707 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.239A>G (p.Asn80Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001277791]|Sphingolipid activator protein 1 deficiency [RCV002542884] |
Chr10:71831856 [GRCh38] Chr10:73591613 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.127G>A (p.Gly43Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001277792]|Sphingolipid activator protein 1 deficiency [RCV002537775] |
Chr10:71834419 [GRCh38] Chr10:73594176 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.26G>A (p.Ser9Asn) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001277796] |
Chr10:71851196 [GRCh38] Chr10:73610953 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala) |
single nucleotide variant |
Gaucher disease due to saposin C deficiency [RCV001449850]|Metachromatic leukodystrophy [RCV001280271]|Sphingolipid activator protein 1 deficiency [RCV002541741] |
Chr10:71819830 [GRCh38] Chr10:73579587 [GRCh37] Chr10:10q22.1 |
likely pathogenic|risk factor|uncertain significance |
NM_002778.4(PSAP):c.1020C>T (p.Asp340=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001395505] |
Chr10:71819886 [GRCh38] Chr10:73579643 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.161A>G (p.Asn54Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001835410]|Sphingolipid activator protein 1 deficiency [RCV001297745] |
Chr10:71834385 [GRCh38] Chr10:73594142 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1192+7G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001394084] |
Chr10:71819707 [GRCh38] Chr10:73579464 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.354G>C (p.Leu118=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001450320] |
Chr10:71831147 [GRCh38] Chr10:73590904 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1192+7G>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001468169] |
Chr10:71819707 [GRCh38] Chr10:73579464 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1006-7G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001417181] |
Chr10:71819907 [GRCh38] Chr10:73579664 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1233G>T (p.Val411=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001436411] |
Chr10:71819582 [GRCh38] Chr10:73579339 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.213C>T (p.Thr71=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001465860] |
Chr10:71831882 [GRCh38] Chr10:73591639 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1351-5T>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001486289] |
Chr10:71819116 [GRCh38] Chr10:73578873 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.40+9T>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001480579] |
Chr10:71851173 [GRCh38] Chr10:73610930 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1419C>T (p.Ser473=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001485429] |
Chr10:71819043 [GRCh38] Chr10:73578800 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1351-10T>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001474377] |
Chr10:71819121 [GRCh38] Chr10:73578878 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.201A>G (p.Lys67=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001474416] |
Chr10:71831894 [GRCh38] Chr10:73591651 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.27C>T (p.Ser9=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001498112] |
Chr10:71851195 [GRCh38] Chr10:73610952 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.48C>T (p.Ala16=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001442719] |
Chr10:71834498 [GRCh38] Chr10:73594255 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1431+7C>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001401313] |
Chr10:71819024 [GRCh38] Chr10:73578781 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1540-8C>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001491879] |
Chr10:71817484 [GRCh38] Chr10:73577241 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1227C>T (p.Cys409=) |
single nucleotide variant |
Inborn genetic diseases [RCV003375322]|Sphingolipid activator protein 1 deficiency [RCV001488047] |
Chr10:71819588 [GRCh38] Chr10:73579345 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.438A>G (p.Ala146=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001424067] |
Chr10:71829015 [GRCh38] Chr10:73588772 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1158C>T (p.His386=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001419179] |
Chr10:71819748 [GRCh38] Chr10:73579505 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1323C>T (p.Ser441=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001474782] |
Chr10:71819492 [GRCh38] Chr10:73579249 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.789G>A (p.Glu263=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001440580] |
Chr10:71821996 [GRCh38] Chr10:73581753 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.576+10C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001492056] |
Chr10:71828867 [GRCh38] Chr10:73588624 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.912G>A (p.Lys304=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001467835] |
Chr10:71820333 [GRCh38] Chr10:73580090 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.249+10G>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001419545] |
Chr10:71831836 [GRCh38] Chr10:73591593 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.41-252A>G |
single nucleotide variant |
not provided [RCV001608822] |
Chr10:71834757 [GRCh38] Chr10:73594514 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.1050G>A (p.Pro350=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001428842] |
Chr10:71819856 [GRCh38] Chr10:73579613 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1092C>T (p.Tyr364=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001443571] |
Chr10:71819814 [GRCh38] Chr10:73579571 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.2T>G (p.Met1Arg) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001389490] |
Chr10:71851220 [GRCh38] Chr10:73610977 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.399T>C (p.Ser133=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001446872] |
Chr10:71829054 [GRCh38] Chr10:73588811 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.573A>G (p.Pro191=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001449560] |
Chr10:71828880 [GRCh38] Chr10:73588637 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1155G>T (p.Leu385=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001415991] |
Chr10:71819751 [GRCh38] Chr10:73579508 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1497A>G (p.Pro499=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001441951] |
Chr10:71818659 [GRCh38] Chr10:73578416 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1006-8_1021del |
deletion |
Combined PSAP deficiency [RCV001542767] |
Chr10:71819885..71819908 [GRCh38] Chr10:73579642..73579665 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_002778.4(PSAP):c.698T>G (p.Leu233Arg) |
single nucleotide variant |
Combined PSAP deficiency [RCV001542768] |
Chr10:71828036 [GRCh38] Chr10:73587793 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_002778.4(PSAP):c.1296C>T (p.Ile432=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001423919] |
Chr10:71819519 [GRCh38] Chr10:73579276 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.687G>A (p.Glu229=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001410936] |
Chr10:71828047 [GRCh38] Chr10:73587804 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1191C>G (p.Thr397=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001447676] |
Chr10:71819715 [GRCh38] Chr10:73579472 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.41-7A>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001437896] |
Chr10:71834512 [GRCh38] Chr10:73594269 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1179G>A (p.Leu393=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001401232] |
Chr10:71819727 [GRCh38] Chr10:73579484 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.9C>G (p.Ala3=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001402650] |
Chr10:71851213 [GRCh38] Chr10:73610970 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.75C>T (p.Cys25=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001408914] |
Chr10:71834471 [GRCh38] Chr10:73594228 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.54G>C (p.Pro18=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001438353] |
Chr10:71834492 [GRCh38] Chr10:73594249 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1431+116C>T |
single nucleotide variant |
Combined PSAP deficiency [RCV001538008]|Krabbe disease due to saposin A deficiency [RCV001538009]|Sphingolipid activator protein 1 deficiency [RCV001538010]|not provided [RCV001707895] |
Chr10:71818915 [GRCh38] Chr10:73578672 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.300G>A (p.Pro100=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001427564] |
Chr10:71831201 [GRCh38] Chr10:73590958 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1545C>T (p.Val515=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001439256] |
Chr10:71817471 [GRCh38] Chr10:73577228 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.621C>T (p.Asp207=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001457400] |
Chr10:71828113 [GRCh38] Chr10:73587870 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.777+68T>C |
single nucleotide variant |
not provided [RCV001716669] |
Chr10:71825769 [GRCh38] Chr10:73585526 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.175-152C>T |
single nucleotide variant |
not provided [RCV001695616] |
Chr10:71832072 [GRCh38] Chr10:73591829 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.1560C>T (p.Arg520=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001458965] |
Chr10:71817456 [GRCh38] Chr10:73577213 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1006-11GT[2] |
microsatellite |
Sphingolipid activator protein 1 deficiency [RCV001496766] |
Chr10:71819906..71819907 [GRCh38] Chr10:73579663..73579664 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1539+235dup |
duplication |
not provided [RCV001672033] |
Chr10:71818375..71818376 [GRCh38] Chr10:73578132..73578133 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.174+164C>T |
single nucleotide variant |
not provided [RCV001616225] |
Chr10:71834208 [GRCh38] Chr10:73593965 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.249+10G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001460147] |
Chr10:71831836 [GRCh38] Chr10:73591593 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1287G>A (p.Lys429=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001497244] |
Chr10:71819528 [GRCh38] Chr10:73579285 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.591T>G (p.Val197=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001460738] |
Chr10:71828143 [GRCh38] Chr10:73587900 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.888G>A (p.Leu296=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001453558] |
Chr10:71821897 [GRCh38] Chr10:73581654 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.642C>T (p.Thr214=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001478015] |
Chr10:71828092 [GRCh38] Chr10:73587849 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1083G>A (p.Val361=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001489359] |
Chr10:71819823 [GRCh38] Chr10:73579580 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.777+256_777+269del |
deletion |
not provided [RCV001616712] |
Chr10:71825568..71825581 [GRCh38] Chr10:73585325..73585338 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.885C>T (p.Ala295=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001472561] |
Chr10:71821900 [GRCh38] Chr10:73581657 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1062G>A (p.Ser354=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001431101] |
Chr10:71819844 [GRCh38] Chr10:73579601 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1350+1G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001378136] |
Chr10:71819464 [GRCh38] Chr10:73579221 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_002778.4(PSAP):c.1540-10C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001468409] |
Chr10:71817486 [GRCh38] Chr10:73577243 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1350+7C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001486876] |
Chr10:71819458 [GRCh38] Chr10:73579215 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1341C>T (p.Tyr447=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001832639]|Sphingolipid activator protein 1 deficiency [RCV001490194] |
Chr10:71819474 [GRCh38] Chr10:73579231 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.268T>C (p.Leu90=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001427136] |
Chr10:71831233 [GRCh38] Chr10:73590990 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.294G>A (p.Pro98=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001481504] |
Chr10:71831207 [GRCh38] Chr10:73590964 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.717C>T (p.Asp239=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001481556] |
Chr10:71828017 [GRCh38] Chr10:73587774 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.54G>A (p.Pro18=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001457458] |
Chr10:71834492 [GRCh38] Chr10:73594249 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.633T>C (p.Ala211=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001442480] |
Chr10:71828101 [GRCh38] Chr10:73587858 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.552C>A (p.Gly184=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001482964] |
Chr10:71828901 [GRCh38] Chr10:73588658 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.721-9T>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001491087] |
Chr10:71825902 [GRCh38] Chr10:73585659 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.894G>A (p.Leu298=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001451242] |
Chr10:71821891 [GRCh38] Chr10:73581648 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.915C>T (p.His305=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001486727] |
Chr10:71820330 [GRCh38] Chr10:73580087 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.960C>T (p.Phe320=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001505111] |
Chr10:71820285 [GRCh38] Chr10:73580042 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.402T>C (p.Ala134=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001427519] |
Chr10:71829051 [GRCh38] Chr10:73588808 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1518A>T (p.Thr506=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001496819] |
Chr10:71818638 [GRCh38] Chr10:73578395 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.250-9C>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001505211] |
Chr10:71831260 [GRCh38] Chr10:73591017 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.834C>T (p.Pro278=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001436584] |
Chr10:71821951 [GRCh38] Chr10:73581708 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.594C>T (p.Cys198=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001443401] |
Chr10:71828140 [GRCh38] Chr10:73587897 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.663C>T (p.Ala221=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001434530] |
Chr10:71828071 [GRCh38] Chr10:73587828 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.822G>A (p.Val274=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001416399] |
Chr10:71821963 [GRCh38] Chr10:73581720 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.9C>T (p.Ala3=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001423932] |
Chr10:71851213 [GRCh38] Chr10:73610970 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.393G>A (p.Val131=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001497231] |
Chr10:71829060 [GRCh38] Chr10:73588817 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.60T>C (p.Leu20=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001405186] |
Chr10:71834486 [GRCh38] Chr10:73594243 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1045C>T (p.Leu349=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001456595] |
Chr10:71819861 [GRCh38] Chr10:73579618 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1128C>T (p.Val376=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001482472] |
Chr10:71819778 [GRCh38] Chr10:73579535 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1338T>C (p.Pro446=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001417094] |
Chr10:71819477 [GRCh38] Chr10:73579234 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.398C>G (p.Ser133Cys) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003106876] |
Chr10:71829055 [GRCh38] Chr10:73588812 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.209T>G (p.Val70Gly) |
single nucleotide variant |
Krabbe disease due to saposin A deficiency [RCV001731262] |
Chr10:71831886 [GRCh38] Chr10:73591643 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.720+2_720+5del |
deletion |
not provided [RCV001782687] |
Chr10:71828009..71828012 [GRCh38] Chr10:73587766..73587769 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_002778.4(PSAP):c.1005+1G>A |
single nucleotide variant |
Gaucher disease due to saposin C deficiency [RCV001801340]|Sphingolipid activator protein 1 deficiency [RCV002541348] |
Chr10:71820239 [GRCh38] Chr10:73579996 [GRCh37] Chr10:10q22.1 |
pathogenic|likely pathogenic |
NM_002778.4(PSAP):c.835A>G (p.Met279Val) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002538752]|not provided [RCV001757970] |
Chr10:71821950 [GRCh38] Chr10:73581707 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.763A>T (p.Met255Leu) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001950647] |
Chr10:71825851 [GRCh38] Chr10:73585608 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.358A>G (p.Ile120Val) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002009344] |
Chr10:71831143 [GRCh38] Chr10:73590900 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.910-2A>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001971771] |
Chr10:71820337 [GRCh38] Chr10:73580094 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_002778.4(PSAP):c.637C>T (p.Arg213Trp) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001896595] |
Chr10:71828097 [GRCh38] Chr10:73587854 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.5A>T (p.Tyr2Phe) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002024240] |
Chr10:71851217 [GRCh38] Chr10:73610974 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.194T>C (p.Ile65Thr) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002005064] |
Chr10:71831901 [GRCh38] Chr10:73591658 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.856A>G (p.Lys286Glu) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001914924] |
Chr10:71821929 [GRCh38] Chr10:73581686 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.490A>G (p.Met164Val) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002045207] |
Chr10:71828963 [GRCh38] Chr10:73588720 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1431+11C>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001896624] |
Chr10:71819020 [GRCh38] Chr10:73578777 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.902C>T (p.Pro301Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002562773]|Sphingolipid activator protein 1 deficiency [RCV001965048] |
Chr10:71821883 [GRCh38] Chr10:73581640 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.771G>A (p.Met257Ile) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002004509] |
Chr10:71825843 [GRCh38] Chr10:73585600 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.797C>T (p.Ala266Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003264114]|Sphingolipid activator protein 1 deficiency [RCV002543316]|not specified [RCV001844578] |
Chr10:71821988 [GRCh38] Chr10:73581745 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.337T>G (p.Tyr113Asp) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001896152] |
Chr10:71831164 [GRCh38] Chr10:73590921 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.190G>A (p.Asp64Asn) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001895738] |
Chr10:71831905 [GRCh38] Chr10:73591662 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.76A>G (p.Thr26Ala) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001968211] |
Chr10:71834470 [GRCh38] Chr10:73594227 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1227C>G (p.Cys409Trp) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001945260] |
Chr10:71819588 [GRCh38] Chr10:73579345 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.784A>G (p.Lys262Glu) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002022130] |
Chr10:71822001 [GRCh38] Chr10:73581758 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.125G>A (p.Cys42Tyr) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001870726] |
Chr10:71834421 [GRCh38] Chr10:73594178 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1472G>A (p.Gly491Glu) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002005624] |
Chr10:71818684 [GRCh38] Chr10:73578441 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1067A>C (p.Glu356Ala) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002005680] |
Chr10:71819839 [GRCh38] Chr10:73579596 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.608A>G (p.Gln203Arg) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002005195] |
Chr10:71828126 [GRCh38] Chr10:73587883 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.37G>T (p.Ala13Ser) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001968123] |
Chr10:71851185 [GRCh38] Chr10:73610942 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.727A>G (p.Asn243Asp) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001872880] |
Chr10:71825887 [GRCh38] Chr10:73585644 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1297C>G (p.Leu433Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002548919]|Sphingolipid activator protein 1 deficiency [RCV002043600] |
Chr10:71819518 [GRCh38] Chr10:73579275 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.38C>T (p.Ala13Val) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001946298] |
Chr10:71851184 [GRCh38] Chr10:73610941 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1274A>G (p.Lys425Arg) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002006669] |
Chr10:71819541 [GRCh38] Chr10:73579298 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1284C>T (p.Thr428=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002041500] |
Chr10:71819531 [GRCh38] Chr10:73579288 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.10C>T (p.Leu4Phe) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001986705] |
Chr10:71851212 [GRCh38] Chr10:73610969 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.928A>G (p.Lys310Glu) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001928309] |
Chr10:71820317 [GRCh38] Chr10:73580074 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1262G>T (p.Arg421Leu) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001910681] |
Chr10:71819553 [GRCh38] Chr10:73579310 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.15C>A (p.Phe5Leu) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001945953] |
Chr10:71851207 [GRCh38] Chr10:73610964 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.41-17_42del |
deletion |
Sphingolipid activator protein 1 deficiency [RCV001986796] |
Chr10:71834504..71834522 [GRCh38] Chr10:73594261..73594279 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) |
copy number loss |
not specified [RCV002052875] |
Chr10:68735254..78885714 [GRCh37] Chr10:10q21.3-22.3 |
pathogenic |
NM_002778.4(PSAP):c.376-9T>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002022124] |
Chr10:71829086 [GRCh38] Chr10:73588843 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.610A>T (p.Met204Leu) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001985146] |
Chr10:71828124 [GRCh38] Chr10:73587881 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.346G>C (p.Val116Leu) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001965809] |
Chr10:71831155 [GRCh38] Chr10:73590912 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.19C>A (p.Leu7Met) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002039658] |
Chr10:71851203 [GRCh38] Chr10:73610960 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.576+3A>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001984190] |
Chr10:71828874 [GRCh38] Chr10:73588631 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1006-12C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002023327] |
Chr10:71819912 [GRCh38] Chr10:73579669 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1088C>G (p.Thr363Arg) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001910834] |
Chr10:71819818 [GRCh38] Chr10:73579575 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1049C>G (p.Pro350Arg) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001890838] |
Chr10:71819857 [GRCh38] Chr10:73579614 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.226A>G (p.Met76Val) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001990971] |
Chr10:71831869 [GRCh38] Chr10:73591626 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.720+5G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001943102] |
Chr10:71828009 [GRCh38] Chr10:73587766 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.214G>A (p.Ala72Thr) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001938927] |
Chr10:71831881 [GRCh38] Chr10:73591638 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.553C>T (p.Pro185Ser) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001884346] |
Chr10:71828900 [GRCh38] Chr10:73588657 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.249+20G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002037138] |
Chr10:71831826 [GRCh38] Chr10:73591583 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1352G>A (p.Cys451Tyr) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001963350] |
Chr10:71819110 [GRCh38] Chr10:73578867 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1180C>T (p.Pro394Ser) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002014457] |
Chr10:71819726 [GRCh38] Chr10:73579483 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1063G>C (p.Glu355Gln) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001922585] |
Chr10:71819843 [GRCh38] Chr10:73579600 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1130G>A (p.Ser377Asn) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002038245] |
Chr10:71819776 [GRCh38] Chr10:73579533 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.695G>T (p.Arg232Leu) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002028637] |
Chr10:71828039 [GRCh38] Chr10:73587796 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.576+9_576+20del |
deletion |
Sphingolipid activator protein 1 deficiency [RCV002001359] |
Chr10:71828857..71828868 [GRCh38] Chr10:73588614..73588625 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.175-5C>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001937630] |
Chr10:71831925 [GRCh38] Chr10:73591682 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.428A>G (p.Lys143Arg) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001959979] |
Chr10:71829025 [GRCh38] Chr10:73588782 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.576+1G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002038695] |
Chr10:71828876 [GRCh38] Chr10:73588633 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_002778.4(PSAP):c.39G>T (p.Ala13=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001888774] |
Chr10:71851183 [GRCh38] Chr10:73610940 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.40+6C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001979827] |
Chr10:71851176 [GRCh38] Chr10:73610933 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.10:g.(?_73587761)_(73588844_?)del |
deletion |
Sphingolipid activator protein 1 deficiency [RCV001962174] |
Chr10:73587761..73588844 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.1291G>A (p.Glu431Lys) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001956777] |
Chr10:71819524 [GRCh38] Chr10:73579281 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.376-3C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001887948] |
Chr10:71829080 [GRCh38] Chr10:73588837 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.889G>T (p.Glu297Ter) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001942173] |
Chr10:71821896 [GRCh38] Chr10:73581653 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.1049C>T (p.Pro350Leu) |
single nucleotide variant |
Combined PSAP deficiency [RCV003333191]|Sphingolipid activator protein 1 deficiency [RCV001925974]|not provided [RCV003229903] |
Chr10:71819857 [GRCh38] Chr10:73579614 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1081G>A (p.Val361Met) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002049355] |
Chr10:71819825 [GRCh38] Chr10:73579582 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.695G>A (p.Arg232His) |
single nucleotide variant |
Gaucher disease due to saposin C deficiency [RCV002507741]|Sphingolipid activator protein 1 deficiency [RCV001991035] |
Chr10:71828039 [GRCh38] Chr10:73587796 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1280G>A (p.Ser427Asn) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001996163] |
Chr10:71819535 [GRCh38] Chr10:73579292 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1243C>G (p.Leu415Val) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002033496] |
Chr10:71819572 [GRCh38] Chr10:73579329 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1093G>T (p.Gly365Cys) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001877454] |
Chr10:71819813 [GRCh38] Chr10:73579570 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1262G>A (p.Arg421His) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001951820] |
Chr10:71819553 [GRCh38] Chr10:73579310 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1351-2A>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001993817] |
Chr10:71819113 [GRCh38] Chr10:73578870 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NC_000010.10:g.(?_73569557)_(73594282_?)dup |
duplication |
Sphingolipid activator protein 1 deficiency [RCV001877719] |
Chr10:73569557..73594282 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.865T>C (p.Ser289Pro) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001996210] |
Chr10:71821920 [GRCh38] Chr10:73581677 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.332A>G (p.Asp111Gly) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002025972] |
Chr10:71831169 [GRCh38] Chr10:73590926 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1540-5A>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001950846] |
Chr10:71817481 [GRCh38] Chr10:73577238 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1389C>G (p.Ile463Met) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001881792] |
Chr10:71819073 [GRCh38] Chr10:73578830 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.830T>G (p.Met277Arg) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001971877] |
Chr10:71821955 [GRCh38] Chr10:73581712 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.375+1G>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001975717] |
Chr10:71831125 [GRCh38] Chr10:73590882 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_002778.4(PSAP):c.1204C>A (p.Gln402Lys) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002030256] |
Chr10:71819611 [GRCh38] Chr10:73579368 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.875T>G (p.Val292Gly) |
single nucleotide variant |
Combined PSAP deficiency [RCV002291509]|Parkinson disease 24, autosomal dominant, susceptibility to [RCV003339831]|Sphingolipid activator protein 1 deficiency [RCV001921495] |
Chr10:71821910 [GRCh38] Chr10:73581667 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.910-6C>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001878199] |
Chr10:71820341 [GRCh38] Chr10:73580098 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1252T>C (p.Tyr418His) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001915915] |
Chr10:71819563 [GRCh38] Chr10:73579320 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.83del (p.Gly28fs) |
deletion |
Sphingolipid activator protein 1 deficiency [RCV001897524] |
Chr10:71834463 [GRCh38] Chr10:73594220 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.397T>C (p.Ser133Pro) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001930738] |
Chr10:71829056 [GRCh38] Chr10:73588813 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.763A>G (p.Met255Val) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001935677] |
Chr10:71825851 [GRCh38] Chr10:73585608 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.456G>C (p.Lys152Asn) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001921641] |
Chr10:71828997 [GRCh38] Chr10:73588754 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.407A>G (p.Asn136Ser) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001901411] |
Chr10:71829046 [GRCh38] Chr10:73588803 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.166C>T (p.Pro56Ser) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001906869] |
Chr10:71834380 [GRCh38] Chr10:73594137 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.52C>G (p.Pro18Ala) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001960333] |
Chr10:71834494 [GRCh38] Chr10:73594251 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1219G>A (p.Gly407Ser) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001899294] |
Chr10:71819596 [GRCh38] Chr10:73579353 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.299_315del (p.Pro100fs) |
deletion |
Sphingolipid activator protein 1 deficiency [RCV001917936] |
Chr10:71831186..71831202 [GRCh38] Chr10:73590943..73590959 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.1040C>T (p.Ser347Leu) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001937934] |
Chr10:71819866 [GRCh38] Chr10:73579623 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.10:g.(?_73574689)_(73610978_?)del |
deletion |
not provided [RCV002011875] |
Chr10:73574689..73610978 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.743A>G (p.Tyr248Cys) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002028420] |
Chr10:71825871 [GRCh38] Chr10:73585628 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.932C>G (p.Ser311Cys) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001997736] |
Chr10:71820313 [GRCh38] Chr10:73580070 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1097G>C (p.Ser366Thr) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002047374] |
Chr10:71819809 [GRCh38] Chr10:73579566 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1074G>C (p.Gln358His) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002013677] |
Chr10:71819832 [GRCh38] Chr10:73579589 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.136_138inv (p.Lys46Leu) |
inversion |
Sphingolipid activator protein 1 deficiency [RCV001989315] |
Chr10:71834408..71834410 [GRCh38] Chr10:73594165..73594167 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1175G>A (p.Arg392Gln) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001955244] |
Chr10:71819731 [GRCh38] Chr10:73579488 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NC_000010.10:g.(?_73610929)_(73610988_?)del |
deletion |
Sphingolipid activator protein 1 deficiency [RCV001925537] |
Chr10:73610929..73610988 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.1282A>G (p.Thr428Ala) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001901448] |
Chr10:71819533 [GRCh38] Chr10:73579290 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.940T>C (p.Tyr314His) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001997891] |
Chr10:71820305 [GRCh38] Chr10:73580062 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.629C>A (p.Thr210Asn) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001939979] |
Chr10:71828105 [GRCh38] Chr10:73587862 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1309G>A (p.Glu437Lys) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001961035] |
Chr10:71819506 [GRCh38] Chr10:73579263 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1106T>C (p.Leu369Pro) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001867068] |
Chr10:71819800 [GRCh38] Chr10:73579557 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1204C>T (p.Gln402Ter) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001950813] |
Chr10:71819611 [GRCh38] Chr10:73579368 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.777+1915C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001978632] |
Chr10:71823922 [GRCh38] Chr10:73583679 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.507C>T (p.Ala169=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001989235] |
Chr10:71828946 [GRCh38] Chr10:73588703 [GRCh37] Chr10:10q22.1 |
likely benign |
NC_000010.10:g.(?_73490206)_(73768229_?)dup |
duplication |
not provided [RCV001955739] |
Chr10:73490206..73768229 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.670G>T (p.Glu224Ter) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001934357] |
Chr10:71828064 [GRCh38] Chr10:73587821 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.791T>A (p.Ile264Asn) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001934358] |
Chr10:71821994 [GRCh38] Chr10:73581751 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1073A>T (p.Gln358Leu) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001876625] |
Chr10:71819833 [GRCh38] Chr10:73579590 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.721-1G>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001973402] |
Chr10:71825894 [GRCh38] Chr10:73585651 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_002778.4(PSAP):c.429G>A (p.Lys143=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002164986] |
Chr10:71829024 [GRCh38] Chr10:73588781 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.720+15C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002105829] |
Chr10:71827999 [GRCh38] Chr10:73587756 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1540-12C>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002092424] |
Chr10:71817488 [GRCh38] Chr10:73577245 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1351-10T>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002187015] |
Chr10:71819121 [GRCh38] Chr10:73578878 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1193-14G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002106702] |
Chr10:71819636 [GRCh38] Chr10:73579393 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.777+11C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002091511] |
Chr10:71825826 [GRCh38] Chr10:73585583 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1297C>T (p.Leu433=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002188461] |
Chr10:71819518 [GRCh38] Chr10:73579275 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.697C>T (p.Leu233=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002108552] |
Chr10:71828037 [GRCh38] Chr10:73587794 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.84C>T (p.Gly28=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002084691] |
Chr10:71834462 [GRCh38] Chr10:73594219 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.786G>A (p.Lys262=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002206504] |
Chr10:71821999 [GRCh38] Chr10:73581756 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1500C>T (p.Ser500=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002088247] |
Chr10:71818656 [GRCh38] Chr10:73578413 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.720+7C>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002144761] |
Chr10:71828007 [GRCh38] Chr10:73587764 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.132A>G (p.Ala44=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002189791] |
Chr10:71834414 [GRCh38] Chr10:73594171 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.315A>G (p.Ser105=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002092097] |
Chr10:71831186 [GRCh38] Chr10:73590943 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1006-20G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002085751] |
Chr10:71819920 [GRCh38] Chr10:73579677 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.381T>C (p.Arg127=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002085407] |
Chr10:71829072 [GRCh38] Chr10:73588829 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1350+9C>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002085603] |
Chr10:71819456 [GRCh38] Chr10:73579213 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1539+20G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002097724] |
Chr10:71818597 [GRCh38] Chr10:73578354 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.175-7C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002174781] |
Chr10:71831927 [GRCh38] Chr10:73591684 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.910-13A>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002185177] |
Chr10:71820348 [GRCh38] Chr10:73580105 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.489C>T (p.Asp163=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002092808] |
Chr10:71828964 [GRCh38] Chr10:73588721 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.609G>A (p.Gln203=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002131146] |
Chr10:71828125 [GRCh38] Chr10:73587882 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1089G>A (p.Thr363=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002116774] |
Chr10:71819817 [GRCh38] Chr10:73579574 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.712G>A (p.Ala238Thr) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV001945056] |
Chr10:71828022 [GRCh38] Chr10:73587779 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.303C>T (p.Asn101=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002097349] |
Chr10:71831198 [GRCh38] Chr10:73590955 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.57C>A (p.Val19=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002081037] |
Chr10:71834489 [GRCh38] Chr10:73594246 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.778-8C>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002104850] |
Chr10:71822015 [GRCh38] Chr10:73581772 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1193-11C>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002096505] |
Chr10:71819633 [GRCh38] Chr10:73579390 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.777+9C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002130262] |
Chr10:71825828 [GRCh38] Chr10:73585585 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.963G>A (p.Leu321=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002194597] |
Chr10:71820282 [GRCh38] Chr10:73580039 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.12C>G (p.Leu4=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002196475] |
Chr10:71851210 [GRCh38] Chr10:73610967 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.126C>T (p.Cys42=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002078976] |
Chr10:71834420 [GRCh38] Chr10:73594177 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.41-17G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002134856] |
Chr10:71834522 [GRCh38] Chr10:73594279 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.192C>T (p.Asp64=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002081092] |
Chr10:71831903 [GRCh38] Chr10:73591660 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.732T>C (p.Tyr244=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002094408] |
Chr10:71825882 [GRCh38] Chr10:73585639 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.930G>A (p.Lys310=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002197397] |
Chr10:71820315 [GRCh38] Chr10:73580072 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1350+15G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002094821] |
Chr10:71819450 [GRCh38] Chr10:73579207 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.114G>A (p.Thr38=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002133069] |
Chr10:71834432 [GRCh38] Chr10:73594189 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.375+13G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002072784] |
Chr10:71831113 [GRCh38] Chr10:73590870 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.910-8T>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002086834] |
Chr10:71820343 [GRCh38] Chr10:73580100 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1193-12C>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002191463] |
Chr10:71819634 [GRCh38] Chr10:73579391 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.651C>G (p.Thr217=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002211829] |
Chr10:71828083 [GRCh38] Chr10:73587840 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.576+11G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002111237] |
Chr10:71828866 [GRCh38] Chr10:73588623 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.663C>G (p.Ala221=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002173671] |
Chr10:71828071 [GRCh38] Chr10:73587828 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.462G>A (p.Leu154=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002196684] |
Chr10:71828991 [GRCh38] Chr10:73588748 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.207T>C (p.Val69=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002114704] |
Chr10:71831888 [GRCh38] Chr10:73591645 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.249+11G>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002134441] |
Chr10:71831835 [GRCh38] Chr10:73591592 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1377G>A (p.Glu459=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002186841] |
Chr10:71819085 [GRCh38] Chr10:73578842 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.828G>A (p.Glu276=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002096283] |
Chr10:71821957 [GRCh38] Chr10:73581714 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.721-13T>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002193912]|not provided [RCV003481262] |
Chr10:71825906 [GRCh38] Chr10:73585663 [GRCh37] Chr10:10q22.1 |
likely benign|uncertain significance |
NM_002778.4(PSAP):c.778-6C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002215641] |
Chr10:71822013 [GRCh38] Chr10:73581770 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.777+12G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002211815] |
Chr10:71825825 [GRCh38] Chr10:73585582 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.376-4C>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002172069] |
Chr10:71829081 [GRCh38] Chr10:73588838 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1395C>A (p.Ile465=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002079807] |
Chr10:71819067 [GRCh38] Chr10:73578824 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1548G>A (p.Glu516=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002075913] |
Chr10:71817468 [GRCh38] Chr10:73577225 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.561C>T (p.Ser187=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002118982] |
Chr10:71828892 [GRCh38] Chr10:73588649 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.537C>G (p.Leu179=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002153937] |
Chr10:71828916 [GRCh38] Chr10:73588673 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.951G>A (p.Val317=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002159648] |
Chr10:71820294 [GRCh38] Chr10:73580051 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.577-14T>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002218349] |
Chr10:71828171 [GRCh38] Chr10:73587928 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.376-15T>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002156168] |
Chr10:71829092 [GRCh38] Chr10:73588849 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1089G>C (p.Thr363=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002139516] |
Chr10:71819817 [GRCh38] Chr10:73579574 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.90A>C (p.Ala30=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002081950] |
Chr10:71834456 [GRCh38] Chr10:73594213 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1029C>T (p.Asp343=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002118214] |
Chr10:71819877 [GRCh38] Chr10:73579634 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1193-18C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002204245] |
Chr10:71819640 [GRCh38] Chr10:73579397 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.12C>T (p.Leu4=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002176320] |
Chr10:71851210 [GRCh38] Chr10:73610967 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.498G>A (p.Glu166=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002202465] |
Chr10:71828955 [GRCh38] Chr10:73588712 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1540-10C>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002218674] |
Chr10:71817486 [GRCh38] Chr10:73577243 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.376-8C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002163455] |
Chr10:71829085 [GRCh38] Chr10:73588842 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.879C>T (p.Ile293=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002143313] |
Chr10:71821906 [GRCh38] Chr10:73581663 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.376-5A>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002158550] |
Chr10:71829082 [GRCh38] Chr10:73588839 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1117C>T (p.Leu373=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002136660] |
Chr10:71819789 [GRCh38] Chr10:73579546 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.175-19C>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002182358] |
Chr10:71831939 [GRCh38] Chr10:73591696 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.249+15G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002120841] |
Chr10:71831831 [GRCh38] Chr10:73591588 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1540-13TC[2] |
microsatellite |
Sphingolipid activator protein 1 deficiency [RCV002122742] |
Chr10:71817484..71817485 [GRCh38] Chr10:73577241..73577242 [GRCh37] Chr10:10q22.1 |
benign |
NM_002778.4(PSAP):c.19C>T (p.Leu7=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002218032] |
Chr10:71851203 [GRCh38] Chr10:73610960 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.618T>A (p.Thr206=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002082949] |
Chr10:71828116 [GRCh38] Chr10:73587873 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1350+16G>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002099758] |
Chr10:71819449 [GRCh38] Chr10:73579206 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.249+8G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002184614] |
Chr10:71831838 [GRCh38] Chr10:73591595 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.376-6C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002161409] |
Chr10:71829083 [GRCh38] Chr10:73588840 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.147G>A (p.Leu49=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002142839] |
Chr10:71834399 [GRCh38] Chr10:73594156 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1041G>A (p.Ser347=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002180054] |
Chr10:71819865 [GRCh38] Chr10:73579622 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.777+18C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002203211] |
Chr10:71825819 [GRCh38] Chr10:73585576 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.867C>G (p.Ser289=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002218655] |
Chr10:71821918 [GRCh38] Chr10:73581675 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.402T>A (p.Ala134=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002157970] |
Chr10:71829051 [GRCh38] Chr10:73588808 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.886C>T (p.Leu296=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002183574] |
Chr10:71821899 [GRCh38] Chr10:73581656 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1006-11G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002100361] |
Chr10:71819911 [GRCh38] Chr10:73579668 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.300G>T (p.Pro100=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002184093] |
Chr10:71831201 [GRCh38] Chr10:73590958 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.460C>T (p.Leu154=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002160888] |
Chr10:71828993 [GRCh38] Chr10:73588750 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.250-4G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002161061] |
Chr10:71831255 [GRCh38] Chr10:73591012 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.351C>T (p.Ile117=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002122472] |
Chr10:71831150 [GRCh38] Chr10:73590907 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.849C>A (p.Val283=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002199249] |
Chr10:71821936 [GRCh38] Chr10:73581693 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1077G>A (p.Glu359=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002180620] |
Chr10:71819829 [GRCh38] Chr10:73579586 [GRCh37] Chr10:10q22.1 |
likely benign |
NC_000010.10:g.(?_73578585)_(73581640_?)del |
deletion |
Sphingolipid activator protein 1 deficiency [RCV003113122] |
Chr10:73578585..73581640 [GRCh37] Chr10:10q22.1 |
pathogenic |
NC_000010.10:g.(?_73499381)_(73862745_?)dup |
duplication |
Sphingolipid activator protein 1 deficiency [RCV003113123] |
Chr10:73499381..73862745 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.910-18C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003116950] |
Chr10:71820353 [GRCh38] Chr10:73580110 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.723C>T (p.Cys241=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003115429] |
Chr10:71825891 [GRCh38] Chr10:73585648 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.249+7G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003116211] |
Chr10:71831839 [GRCh38] Chr10:73591596 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1161C>T (p.Leu387=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003118156] |
Chr10:71819745 [GRCh38] Chr10:73579502 [GRCh37] Chr10:10q22.1 |
likely benign |
NC_000010.10:g.(?_73464648)_(73768229_?)dup |
duplication |
not provided [RCV003111464] |
Chr10:73464648..73768229 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.249+13G>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003115018] |
Chr10:71831833 [GRCh38] Chr10:73591590 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.439G>A (p.Glu147Lys) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003112256] |
Chr10:71829014 [GRCh38] Chr10:73588771 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1195C>T (p.His399Tyr) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003118909] |
Chr10:71819620 [GRCh38] Chr10:73579377 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1350+4C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003095910]|not provided [RCV002261907] |
Chr10:71819461 [GRCh38] Chr10:73579218 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.721T>G (p.Cys241Gly) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002291315] |
Chr10:71825893 [GRCh38] Chr10:73585650 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.910-183G>T |
single nucleotide variant |
not provided [RCV002285804] |
Chr10:71820518 [GRCh38] Chr10:73580275 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1064A>C (p.Glu355Ala) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002967719] |
Chr10:71819842 [GRCh38] Chr10:73579599 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.205G>A (p.Val69Ile) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002771109] |
Chr10:71831890 [GRCh38] Chr10:73591647 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1546G>A (p.Glu516Lys) |
single nucleotide variant |
not provided [RCV002308773] |
Chr10:71817470 [GRCh38] Chr10:73577227 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.779A>G (p.Gln260Arg) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002301527] |
Chr10:71822006 [GRCh38] Chr10:73581763 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.661G>T (p.Ala221Ser) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002303080] |
Chr10:71828073 [GRCh38] Chr10:73587830 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.49G>A (p.Gly17Ser) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002775702] |
Chr10:71834497 [GRCh38] Chr10:73594254 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1350G>A (p.Gln450=) |
single nucleotide variant |
Inborn genetic diseases [RCV002840428] |
Chr10:71819465 [GRCh38] Chr10:73579222 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1119G>A (p.Leu373=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003014824] |
Chr10:71819787 [GRCh38] Chr10:73579544 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1245G>T (p.Leu415=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002972213] |
Chr10:71819570 [GRCh38] Chr10:73579327 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.457C>T (p.Gln153Ter) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002880738] |
Chr10:71828996 [GRCh38] Chr10:73588753 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.1006-14C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002861560] |
Chr10:71819914 [GRCh38] Chr10:73579671 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1110C>T (p.Ser370=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002726839] |
Chr10:71819796 [GRCh38] Chr10:73579553 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.577-3T>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003075426] |
Chr10:71828160 [GRCh38] Chr10:73587917 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1509C>T (p.Cys503=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002819886] |
Chr10:71818647 [GRCh38] Chr10:73578404 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1191C>T (p.Thr397=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003077064] |
Chr10:71819715 [GRCh38] Chr10:73579472 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.961C>T (p.Leu321=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002618827] |
Chr10:71820284 [GRCh38] Chr10:73580041 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1336C>G (p.Pro446Ala) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003076373] |
Chr10:71819479 [GRCh38] Chr10:73579236 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1149C>T (p.Ser383=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002756617] |
Chr10:71819757 [GRCh38] Chr10:73579514 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1035G>A (p.Met345Ile) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002909106] |
Chr10:71819871 [GRCh38] Chr10:73579628 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.722_723delinsAA (p.Cys241Ter) |
indel |
Sphingolipid activator protein 1 deficiency [RCV003013783] |
Chr10:71825891..71825892 [GRCh38] Chr10:73585648..73585649 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.852C>A (p.Pro284=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002903638] |
Chr10:71821933 [GRCh38] Chr10:73581690 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.174+17T>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002731015] |
Chr10:71834355 [GRCh38] Chr10:73594112 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.729C>T (p.Asn243=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002816260] |
Chr10:71825885 [GRCh38] Chr10:73585642 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.586G>A (p.Asp196Asn) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003074044] |
Chr10:71828148 [GRCh38] Chr10:73587905 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.138G>T (p.Lys46Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002841257] |
Chr10:71834408 [GRCh38] Chr10:73594165 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1113C>T (p.Ile371=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002881004] |
Chr10:71819793 [GRCh38] Chr10:73579550 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.697C>G (p.Leu233Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003161731]|PSAP-related condition [RCV003404065]|Sphingolipid activator protein 1 deficiency [RCV003075665] |
Chr10:71828037 [GRCh38] Chr10:73587794 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.777+16G>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002771147] |
Chr10:71825821 [GRCh38] Chr10:73585578 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.755C>G (p.Ala252Gly) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002750497] |
Chr10:71825859 [GRCh38] Chr10:73585616 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.375+20C>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002756029] |
Chr10:71831106 [GRCh38] Chr10:73590863 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.41-18C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002971541] |
Chr10:71834523 [GRCh38] Chr10:73594280 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.175-16G>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002681258] |
Chr10:71831936 [GRCh38] Chr10:73591693 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.325A>T (p.Ile109Leu) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003076115] |
Chr10:71831176 [GRCh38] Chr10:73590933 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.250-4G>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002858329] |
Chr10:71831255 [GRCh38] Chr10:73591012 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1340dup (p.Tyr447Ter) |
duplication |
Sphingolipid activator protein 1 deficiency [RCV002825544] |
Chr10:71819474..71819475 [GRCh38] Chr10:73579231..73579232 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.332A>C (p.Asp111Ala) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002639570] |
Chr10:71831169 [GRCh38] Chr10:73590926 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.909+17T>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002592862] |
Chr10:71821859 [GRCh38] Chr10:73581616 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1519G>C (p.Glu507Gln) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002928022] |
Chr10:71818637 [GRCh38] Chr10:73578394 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.86C>T (p.Ser29Leu) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003077142] |
Chr10:71834460 [GRCh38] Chr10:73594217 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.175-6T>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002871134] |
Chr10:71831926 [GRCh38] Chr10:73591683 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1431+18G>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003039319] |
Chr10:71819013 [GRCh38] Chr10:73578770 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1514A>G (p.Asn505Ser) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002640213] |
Chr10:71818642 [GRCh38] Chr10:73578399 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.250-15G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002871275] |
Chr10:71831266 [GRCh38] Chr10:73591023 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.576+13G>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002621983] |
Chr10:71828864 [GRCh38] Chr10:73588621 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1389C>A (p.Ile463=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002979490] |
Chr10:71819073 [GRCh38] Chr10:73578830 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.48C>A (p.Ala16=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002824038] |
Chr10:71834498 [GRCh38] Chr10:73594255 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.293C>T (p.Pro98Leu) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002998801] |
Chr10:71831208 [GRCh38] Chr10:73590965 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1193-17G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003078226] |
Chr10:71819639 [GRCh38] Chr10:73579396 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1005+1G>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002867700] |
Chr10:71820239 [GRCh38] Chr10:73579996 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_002778.4(PSAP):c.1155G>A (p.Leu385=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003035601] |
Chr10:71819751 [GRCh38] Chr10:73579508 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.282T>C (p.Cys94=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003054003] |
Chr10:71831219 [GRCh38] Chr10:73590976 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.723_726del (p.Ile240_Cys241insTer) |
deletion |
Sphingolipid activator protein 1 deficiency [RCV003053867] |
Chr10:71825888..71825891 [GRCh38] Chr10:73585645..73585648 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.1540-20A>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002923744] |
Chr10:71817496 [GRCh38] Chr10:73577253 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.87G>A (p.Ser29=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002592938] |
Chr10:71834459 [GRCh38] Chr10:73594216 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.348C>G (p.Val116=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002796381] |
Chr10:71831153 [GRCh38] Chr10:73590910 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1342C>G (p.Gln448Glu) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002927029] |
Chr10:71819473 [GRCh38] Chr10:73579230 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1398G>C (p.Leu466=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002846311] |
Chr10:71819064 [GRCh38] Chr10:73578821 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.777+10A>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003037730] |
Chr10:71825827 [GRCh38] Chr10:73585584 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.133G>T (p.Val45Leu) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002885785] |
Chr10:71834413 [GRCh38] Chr10:73594170 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.567C>G (p.Pro189=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002866838] |
Chr10:71828886 [GRCh38] Chr10:73588643 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.7G>A (p.Ala3Thr) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002976401] |
Chr10:71851215 [GRCh38] Chr10:73610972 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.910-18_910-15del |
deletion |
Sphingolipid activator protein 1 deficiency [RCV002592133] |
Chr10:71820350..71820353 [GRCh38] Chr10:73580107..73580110 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1050G>C (p.Pro350=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002570118] |
Chr10:71819856 [GRCh38] Chr10:73579613 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.69A>G (p.Lys23=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002620596] |
Chr10:71834477 [GRCh38] Chr10:73594234 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1432-20T>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002638452] |
Chr10:71818744 [GRCh38] Chr10:73578501 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.718A>G (p.Ile240Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002638456]|Sphingolipid activator protein 1 deficiency [RCV002654854]|not provided [RCV003229936] |
Chr10:71828016 [GRCh38] Chr10:73587773 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1351-9C>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003054068] |
Chr10:71819120 [GRCh38] Chr10:73578877 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.251A>T (p.Glu84Val) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003038772] |
Chr10:71831250 [GRCh38] Chr10:73591007 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1050dup (p.Lys351fs) |
duplication |
Sphingolipid activator protein 1 deficiency [RCV002795722] |
Chr10:71819855..71819856 [GRCh38] Chr10:73579612..73579613 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.1033A>G (p.Met345Val) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002592118] |
Chr10:71819873 [GRCh38] Chr10:73579630 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1422C>G (p.Phe474Leu) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003080627] |
Chr10:71819040 [GRCh38] Chr10:73578797 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1562A>G (p.His521Arg) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002796677] |
Chr10:71817454 [GRCh38] Chr10:73577211 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.721-5_721-3del |
microsatellite |
Sphingolipid activator protein 1 deficiency [RCV002701447] |
Chr10:71825896..71825898 [GRCh38] Chr10:73585653..73585655 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.909+8dup |
duplication |
Sphingolipid activator protein 1 deficiency [RCV002872571] |
Chr10:71821867..71821868 [GRCh38] Chr10:73581624..73581625 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.114G>C (p.Thr38=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002645629] |
Chr10:71834432 [GRCh38] Chr10:73594189 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.174+15C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002597223] |
Chr10:71834357 [GRCh38] Chr10:73594114 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.175-10T>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002801416] |
Chr10:71831930 [GRCh38] Chr10:73591687 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.935A>G (p.Asp312Gly) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002624898] |
Chr10:71820310 [GRCh38] Chr10:73580067 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1540-4C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002666722] |
Chr10:71817480 [GRCh38] Chr10:73577237 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.778-10C>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002852489] |
Chr10:71822017 [GRCh38] Chr10:73581774 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.119C>A (p.Ser40Tyr) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002957422] |
Chr10:71834427 [GRCh38] Chr10:73594184 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1169G>T (p.Gly390Val) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002700333] |
Chr10:71819737 [GRCh38] Chr10:73579494 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.194T>G (p.Ile65Arg) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002982441] |
Chr10:71831901 [GRCh38] Chr10:73591658 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.694C>T (p.Arg232Cys) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003058400] |
Chr10:71828040 [GRCh38] Chr10:73587797 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1351-9C>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002829758] |
Chr10:71819120 [GRCh38] Chr10:73578877 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1185A>C (p.Ala395=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002828705] |
Chr10:71819721 [GRCh38] Chr10:73579478 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1192+20C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003082810] |
Chr10:71819694 [GRCh38] Chr10:73579451 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.210C>T (p.Val70=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002801077] |
Chr10:71831885 [GRCh38] Chr10:73591642 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1404G>C (p.Glu468Asp) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002642600] |
Chr10:71819058 [GRCh38] Chr10:73578815 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.524T>C (p.Ile175Thr) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002624859] |
Chr10:71828929 [GRCh38] Chr10:73588686 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1559G>A (p.Arg520His) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002914527] |
Chr10:71817457 [GRCh38] Chr10:73577214 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.86C>G (p.Ser29Trp) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002786444] |
Chr10:71834460 [GRCh38] Chr10:73594217 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.145C>T (p.Leu49=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003040715] |
Chr10:71834401 [GRCh38] Chr10:73594158 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1375G>A (p.Glu459Lys) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003085278] |
Chr10:71819087 [GRCh38] Chr10:73578844 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.666G>A (p.Leu222=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002853076] |
Chr10:71828068 [GRCh38] Chr10:73587825 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.769A>T (p.Met257Leu) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002932703] |
Chr10:71825845 [GRCh38] Chr10:73585602 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.196T>G (p.Cys66Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002825954] |
Chr10:71831899 [GRCh38] Chr10:73591656 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.990CAA[2] (p.Asn332del) |
microsatellite |
Sphingolipid activator protein 1 deficiency [RCV003056636] |
Chr10:71820247..71820249 [GRCh38] Chr10:73580004..73580006 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.121G>A (p.Asp41Asn) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002663994] |
Chr10:71834425 [GRCh38] Chr10:73594182 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.699G>A (p.Leu233=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002711460] |
Chr10:71828035 [GRCh38] Chr10:73587792 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.475A>T (p.Ile159Phe) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002625906] |
Chr10:71828978 [GRCh38] Chr10:73588735 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.527dup (p.Leu177fs) |
duplication |
Sphingolipid activator protein 1 deficiency [RCV002801121] |
Chr10:71828925..71828926 [GRCh38] Chr10:73588682..73588683 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.859G>T (p.Val287Leu) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002917884] |
Chr10:71821926 [GRCh38] Chr10:73581683 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1487T>C (p.Ile496Thr) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002650851] |
Chr10:71818669 [GRCh38] Chr10:73578426 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1266C>G (p.Asn422Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002922911]|Sphingolipid activator protein 1 deficiency [RCV002922910] |
Chr10:71819549 [GRCh38] Chr10:73579306 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1174C>T (p.Arg392Trp) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002938220] |
Chr10:71819732 [GRCh38] Chr10:73579489 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.777+19C>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003065802] |
Chr10:71825818 [GRCh38] Chr10:73585575 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.175-17C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003091627] |
Chr10:71831937 [GRCh38] Chr10:73591694 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.227T>C (p.Met76Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003294599]|Sphingolipid activator protein 1 deficiency [RCV002629901] |
Chr10:71831868 [GRCh38] Chr10:73591625 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.154G>A (p.Val52Ile) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003061406] |
Chr10:71834392 [GRCh38] Chr10:73594149 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.550G>A (p.Gly184Ser) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002648093] |
Chr10:71828903 [GRCh38] Chr10:73588660 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.775A>G (p.Met259Val) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002600538] |
Chr10:71825839 [GRCh38] Chr10:73585596 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.174+16C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002627812] |
Chr10:71834356 [GRCh38] Chr10:73594113 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1316G>T (p.Gly439Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002832599] |
Chr10:71819499 [GRCh38] Chr10:73579256 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.100del (p.Gln34fs) |
deletion |
Sphingolipid activator protein 1 deficiency [RCV003043994] |
Chr10:71834446 [GRCh38] Chr10:73594203 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.1057C>G (p.Leu353Val) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002600064] |
Chr10:71819849 [GRCh38] Chr10:73579606 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.721-8C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002600062] |
Chr10:71825901 [GRCh38] Chr10:73585658 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.5A>G (p.Tyr2Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003064905]|Sphingolipid activator protein 1 deficiency [RCV003064906] |
Chr10:71851217 [GRCh38] Chr10:73610974 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.325A>G (p.Ile109Val) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002601889] |
Chr10:71831176 [GRCh38] Chr10:73590933 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.720+7C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003030630] |
Chr10:71828007 [GRCh38] Chr10:73587764 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1201A>C (p.Thr401Pro) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002598979] |
Chr10:71819614 [GRCh38] Chr10:73579371 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1524A>G (p.Thr508=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003090157] |
Chr10:71818632 [GRCh38] Chr10:73578389 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1192+11G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003048444] |
Chr10:71819703 [GRCh38] Chr10:73579460 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.538T>C (p.Tyr180His) |
single nucleotide variant |
Inborn genetic diseases [RCV002717790] |
Chr10:71828915 [GRCh38] Chr10:73588672 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1192+6C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002939057]|Sphingolipid activator protein 1 deficiency [RCV002942770] |
Chr10:71819708 [GRCh38] Chr10:73579465 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.375+9T>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002895892] |
Chr10:71831117 [GRCh38] Chr10:73590874 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.692A>G (p.Asp231Gly) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003060725] |
Chr10:71828042 [GRCh38] Chr10:73587799 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1432-19T>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003064763] |
Chr10:71818743 [GRCh38] Chr10:73578500 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.789G>T (p.Glu263Asp) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003087308] |
Chr10:71821996 [GRCh38] Chr10:73581753 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.576+9A>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003010069] |
Chr10:71828868 [GRCh38] Chr10:73588625 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1065A>G (p.Glu355=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002834893] |
Chr10:71819841 [GRCh38] Chr10:73579598 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.778-9T>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003029701] |
Chr10:71822016 [GRCh38] Chr10:73581773 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.375+16T>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002810916] |
Chr10:71831110 [GRCh38] Chr10:73590867 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1558C>T (p.Arg520Cys) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003090950] |
Chr10:71817458 [GRCh38] Chr10:73577215 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.376-10A>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002806967] |
Chr10:71829087 [GRCh38] Chr10:73588844 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.555_556dup (p.Arg186fs) |
duplication |
Sphingolipid activator protein 1 deficiency [RCV002833405] |
Chr10:71828896..71828897 [GRCh38] Chr10:73588653..73588654 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.411C>T (p.Leu137=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002672197] |
Chr10:71829042 [GRCh38] Chr10:73588799 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.12C>A (p.Leu4=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002899409] |
Chr10:71851210 [GRCh38] Chr10:73610967 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1198G>A (p.Val400Met) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003091135] |
Chr10:71819617 [GRCh38] Chr10:73579374 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.715G>A (p.Asp239Asn) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003066563] |
Chr10:71828019 [GRCh38] Chr10:73587776 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.326T>C (p.Ile109Thr) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003068200] |
Chr10:71831175 [GRCh38] Chr10:73590932 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1415C>T (p.Pro472Leu) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003070207] |
Chr10:71819047 [GRCh38] Chr10:73578804 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1320C>T (p.Cys440=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002588951] |
Chr10:71819495 [GRCh38] Chr10:73579252 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.429G>C (p.Lys143Asn) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003066433] |
Chr10:71829024 [GRCh38] Chr10:73588781 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1539+6T>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002606723] |
Chr10:71818611 [GRCh38] Chr10:73578368 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1328T>C (p.Leu443Pro) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002721376] |
Chr10:71819487 [GRCh38] Chr10:73579244 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1093G>A (p.Gly365Ser) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003073344] |
Chr10:71819813 [GRCh38] Chr10:73579570 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.802G>A (p.Val268Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003092206]|Sphingolipid activator protein 1 deficiency [RCV003092207] |
Chr10:71821983 [GRCh38] Chr10:73581740 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.847G>C (p.Val283Leu) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002585501] |
Chr10:71821938 [GRCh38] Chr10:73581695 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.89C>T (p.Ala30Val) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003069980] |
Chr10:71834457 [GRCh38] Chr10:73594214 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.139C>T (p.His47Tyr) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002613026] |
Chr10:71834407 [GRCh38] Chr10:73594164 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.720A>G (p.Ile240Met) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003071816] |
Chr10:71828014 [GRCh38] Chr10:73587771 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1287G>C (p.Lys429Asn) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002814740] |
Chr10:71819528 [GRCh38] Chr10:73579285 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.721-11T>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003051477] |
Chr10:71825904 [GRCh38] Chr10:73585661 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1067A>G (p.Glu356Gly) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002608001] |
Chr10:71819839 [GRCh38] Chr10:73579596 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.53C>T (p.Pro18Leu) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003072262] |
Chr10:71834493 [GRCh38] Chr10:73594250 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1035G>T (p.Met345Ile) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV002612164] |
Chr10:71819871 [GRCh38] Chr10:73579628 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.593G>A (p.Cys198Tyr) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003154637] |
Chr10:71828141 [GRCh38] Chr10:73587898 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_002778.4(PSAP):c.688T>G (p.Cys230Gly) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003154638] |
Chr10:71828046 [GRCh38] Chr10:73587803 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_002778.4(PSAP):c.777_778insTGT (p.Met259_Gln260insCys) |
insertion |
not provided [RCV003135154] |
Chr10:71825836..71825837 [GRCh38] Chr10:73585593..73585594 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) |
copy number loss |
Distal 10q deletion syndrome [RCV003319583] |
Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3 |
pathogenic |
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) |
copy number gain |
Distal trisomy 10q [RCV003319593] |
Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3 |
pathogenic |
NM_002778.4(PSAP):c.1192+1G>A |
single nucleotide variant |
Combined PSAP deficiency [RCV003333380] |
Chr10:71819713 [GRCh38] Chr10:73579470 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.1105C>T (p.Leu369=) |
single nucleotide variant |
not provided [RCV003456707] |
Chr10:71819801 [GRCh38] Chr10:73579558 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1341C>A (p.Tyr447Ter) |
single nucleotide variant |
Combined PSAP deficiency [RCV003484982] |
Chr10:71819474 [GRCh38] Chr10:73579231 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_002778.4(PSAP):c.829A>T (p.Met277Leu) |
single nucleotide variant |
PSAP-related condition [RCV003408583] |
Chr10:71821956 [GRCh38] Chr10:73581713 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10q22.1(chr10:73321269-74612651)x1 |
copy number loss |
not provided [RCV003483098] |
Chr10:73321269..74612651 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10q22.1(chr10:73592342-73811715)x3 |
copy number gain |
not provided [RCV003484803] |
Chr10:73592342..73811715 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 |
copy number gain |
not provided [RCV003484798] |
Chr10:42709645..100834951 [GRCh37] Chr10:10q11.21-24.2 |
pathogenic |
NM_002778.4(PSAP):c.1467G>T (p.Leu489Phe) |
single nucleotide variant |
not specified [RCV003479796] |
Chr10:71818689 [GRCh38] Chr10:73578446 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.1540-8_1540-7del |
deletion |
Sphingolipid activator protein 1 deficiency [RCV003626324] |
Chr10:71817483..71817484 [GRCh38] Chr10:73577240..73577241 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1193-1G>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627972] |
Chr10:71819623 [GRCh38] Chr10:73579380 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_002778.4(PSAP):c.41-17G>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627006] |
Chr10:71834522 [GRCh38] Chr10:73594279 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1005+19A>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627260] |
Chr10:71820221 [GRCh38] Chr10:73579978 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.174+20A>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003878468] |
Chr10:71834352 [GRCh38] Chr10:73594109 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.825A>G (p.Lys275=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003626111] |
Chr10:71821960 [GRCh38] Chr10:73581717 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.40+8C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003626130] |
Chr10:71851174 [GRCh38] Chr10:73610931 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1006-9G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627788] |
Chr10:71819909 [GRCh38] Chr10:73579666 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.250-1G>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003626263] |
Chr10:71831252 [GRCh38] Chr10:73591009 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_002778.4(PSAP):c.1006-11G>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627857] |
Chr10:71819911 [GRCh38] Chr10:73579668 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.270G>A (p.Leu90=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003626271] |
Chr10:71831231 [GRCh38] Chr10:73590988 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1193-15T>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627180] |
Chr10:71819637 [GRCh38] Chr10:73579394 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.390G>A (p.Glu130=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627984] |
Chr10:71829063 [GRCh38] Chr10:73588820 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.175-11C>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627906] |
Chr10:71831931 [GRCh38] Chr10:73591688 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1540-19G>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627903] |
Chr10:71817495 [GRCh38] Chr10:73577252 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.174+17T>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627275] |
Chr10:71834355 [GRCh38] Chr10:73594112 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1192+14G>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003626429] |
Chr10:71819700 [GRCh38] Chr10:73579457 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.41-18C>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627298] |
Chr10:71834523 [GRCh38] Chr10:73594280 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.249+19G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003626455] |
Chr10:71831827 [GRCh38] Chr10:73591584 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.250-16T>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003628149] |
Chr10:71831267 [GRCh38] Chr10:73591024 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.40+19A>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003628181] |
Chr10:71851163 [GRCh38] Chr10:73610920 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1006-11G>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003628191] |
Chr10:71819911 [GRCh38] Chr10:73579668 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1192+12G>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003626582] |
Chr10:71819702 [GRCh38] Chr10:73579459 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.175-16G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627474] |
Chr10:71831936 [GRCh38] Chr10:73591693 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1005+13C>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003628345] |
Chr10:71820227 [GRCh38] Chr10:73579984 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1050G>T (p.Pro350=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003628387] |
Chr10:71819856 [GRCh38] Chr10:73579613 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1419del (p.Phe474fs) |
deletion |
Sphingolipid activator protein 1 deficiency [RCV003627684] |
Chr10:71819043 [GRCh38] Chr10:73578800 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.353T>C (p.Leu118Pro) |
single nucleotide variant |
Combined PSAP deficiency [RCV003494603] |
Chr10:71831148 [GRCh38] Chr10:73590905 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_002778.4(PSAP):c.607del (p.Gln203fs) |
deletion |
Sphingolipid activator protein 1 deficiency [RCV003628480] |
Chr10:71828127 [GRCh38] Chr10:73587884 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.1350+12G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003628539] |
Chr10:71819453 [GRCh38] Chr10:73579210 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1193-17G>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627393] |
Chr10:71819639 [GRCh38] Chr10:73579396 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1317C>T (p.Gly439=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003877900] |
Chr10:71819498 [GRCh38] Chr10:73579255 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.333C>T (p.Asp111=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627469] |
Chr10:71831168 [GRCh38] Chr10:73590925 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1267C>T (p.Leu423=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627499] |
Chr10:71819548 [GRCh38] Chr10:73579305 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.577-11C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627480] |
Chr10:71828168 [GRCh38] Chr10:73587925 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.910-13A>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627653] |
Chr10:71820348 [GRCh38] Chr10:73580105 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1350+20G>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003626255] |
Chr10:71819445 [GRCh38] Chr10:73579202 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.435A>G (p.Leu145=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003626908] |
Chr10:71829018 [GRCh38] Chr10:73588775 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1053G>A (p.Lys351=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627743] |
Chr10:71819853 [GRCh38] Chr10:73579610 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.42T>C (p.Ala14=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003626307] |
Chr10:71834504 [GRCh38] Chr10:73594261 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.250-7C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003626446] |
Chr10:71831258 [GRCh38] Chr10:73591015 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.175-8T>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627872] |
Chr10:71831928 [GRCh38] Chr10:73591685 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.477C>T (p.Ile159=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627975] |
Chr10:71828976 [GRCh38] Chr10:73588733 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.648C>T (p.Ser216=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627995] |
Chr10:71828086 [GRCh38] Chr10:73587843 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.158G>A (p.Trp53Ter) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003628021] |
Chr10:71834388 [GRCh38] Chr10:73594145 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.721-5C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003628028] |
Chr10:71825898 [GRCh38] Chr10:73585655 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.423C>A (p.Leu141=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003626126] |
Chr10:71829030 [GRCh38] Chr10:73588787 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.291T>C (p.Leu97=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003626181] |
Chr10:71831210 [GRCh38] Chr10:73590967 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.450C>T (p.His150=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627368] |
Chr10:71829003 [GRCh38] Chr10:73588760 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.720+1G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627966] |
Chr10:71828013 [GRCh38] Chr10:73587770 [GRCh37] Chr10:10q22.1 |
likely pathogenic |
NM_002778.4(PSAP):c.342C>G (p.Leu114=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003628203] |
Chr10:71831159 [GRCh38] Chr10:73590916 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.250-10C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627901] |
Chr10:71831261 [GRCh38] Chr10:73591018 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.909+13A>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003628244] |
Chr10:71821863 [GRCh38] Chr10:73581620 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.720+16T>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003626912] |
Chr10:71827998 [GRCh38] Chr10:73587755 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1432-6A>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003626977] |
Chr10:71818730 [GRCh38] Chr10:73578487 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1236C>T (p.Cys412=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003626479] |
Chr10:71819579 [GRCh38] Chr10:73579336 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1066G>T (p.Glu356Ter) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003628471] |
Chr10:71819840 [GRCh38] Chr10:73579597 [GRCh37] Chr10:10q22.1 |
pathogenic |
NM_002778.4(PSAP):c.1059G>C (p.Leu353=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627025] |
Chr10:71819847 [GRCh38] Chr10:73579604 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.41-22_41-20del |
microsatellite |
Sphingolipid activator protein 1 deficiency [RCV003628211] |
Chr10:71834525..71834527 [GRCh38] Chr10:73594282..73594284 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.721-19T>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627128] |
Chr10:71825912 [GRCh38] Chr10:73585669 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.41-16T>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627189] |
Chr10:71834521 [GRCh38] Chr10:73594278 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.909+12C>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627226] |
Chr10:71821864 [GRCh38] Chr10:73581621 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.702C>T (p.Gly234=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627022] |
Chr10:71828032 [GRCh38] Chr10:73587789 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1540-8C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003628274] |
Chr10:71817484 [GRCh38] Chr10:73577241 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1005+12T>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627309] |
Chr10:71820228 [GRCh38] Chr10:73579985 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.792C>T (p.Ile264=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627388] |
Chr10:71821993 [GRCh38] Chr10:73581750 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.504G>A (p.Val168=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003628316] |
Chr10:71828949 [GRCh38] Chr10:73588706 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1540-19G>C |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627178] |
Chr10:71817495 [GRCh38] Chr10:73577252 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.153C>G (p.Thr51=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003626129] |
Chr10:71834393 [GRCh38] Chr10:73594150 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.41-18del |
deletion |
Sphingolipid activator protein 1 deficiency [RCV003626141] |
Chr10:71834523 [GRCh38] Chr10:73594280 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.250-9C>T |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627575] |
Chr10:71831260 [GRCh38] Chr10:73591017 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1006-16C>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627770] |
Chr10:71819916 [GRCh38] Chr10:73579673 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1308T>G (p.Leu436=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003627785] |
Chr10:71819507 [GRCh38] Chr10:73579264 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.1192+12G>A |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003626347] |
Chr10:71819702 [GRCh38] Chr10:73579459 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.721-20A>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003626464] |
Chr10:71825913 [GRCh38] Chr10:73585670 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.41-19A>G |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003626140] |
Chr10:71834524 [GRCh38] Chr10:73594281 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_002778.4(PSAP):c.57C>T (p.Val19=) |
single nucleotide variant |
Sphingolipid activator protein 1 deficiency [RCV003628027] |
Chr10:71834489 [GRCh38] Chr10:73594246 [GRCh37] Chr10:10q22.1 |
likely benign |