NM_002778.4(PSAP):c.650C>T (p.Thr217Ile) |
single nucleotide variant |
Gaucher disease due to saposin C deficiency [RCV005042048]|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]|Parkinson disease 24, autosomal dominant, susceptibility to [RCV004527289]|Sphingolipid activator protein 1 deficiency [RCV000014291] |
Chr10:71825892 [GRCh38] Chr10:73585649 [GRCh37] Chr10:10q22.1 |
pathogenic|likely 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 disorder [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 |
Gaucher disease due to saposin C deficiency [RCV005049337]|Sphingolipid activator protein 1 deficiency [RCV000014304]|not provided [RCV001090814] |
Chr10:71821956..71821957 [GRCh38] Chr10:73581713..73581714 [GRCh37] Chr10:10q22.1 |
pathogenic|likely 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 disorder [RCV004528289]|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]|PSAP-related disorder [RCV003962415]|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]|Hearing loss, autosomal recessive [RCV004577736]|Krabbe disease due to saposin A deficiency [RCV001103807]|Metachromatic leukodystrophy [RCV000391848]|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 provided [RCV004718129]|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]|Inborn genetic diseases [RCV004021479]|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]|not provided [RCV004706764] |
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]|not provided [RCV004718286] |
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]|PSAP-related disorder [RCV003920235]|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]|Inborn genetic diseases [RCV004668890]|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]|PSAP-related disorder [RCV003938594]|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 disorder [RCV004528889]|Combined PSAP deficiency [RCV000308301]|Galactosylceramide beta-galactosidase deficiency [RCV000395744]|Hearing loss, autosomal recessive [RCV004577726]|Metachromatic leukodystrophy [RCV000360078]|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]|Autosomal recessive nonsyndromic hearing loss 12 [RCV004821276]|CDH23-related disorder [RCV004757144]|Combined PSAP deficiency [RCV000353393]|Galactosylceramide beta-galactosidase deficiency [RCV000313766]|Hearing loss, autosomal recessive [RCV004577725]|Metachromatic leukodystrophy [RCV000277348]|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 |
NC_000010.11:g.71851339C>T |
single nucleotide variant |
Atypical Gaucher Disease [RCV000259641]|Combined PSAP deficiency [RCV000395916]|Galactosylceramide beta-galactosidase deficiency [RCV000355868]|Metachromatic leukodystrophy [RCV000303370]|not provided [RCV004705499] |
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 disorder [RCV004529538]|Combined PSAP deficiency [RCV000266027]|Galactosylceramide beta-galactosidase deficiency [RCV000375963]|Hearing loss, autosomal recessive [RCV004577770]|Metachromatic leukodystrophy [RCV000279075]|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 disorder [RCV004529542]|Combined PSAP deficiency [RCV000319096]|Galactosylceramide beta-galactosidase deficiency [RCV000261585]|Hearing loss, autosomal recessive [RCV004577771]|Metachromatic leukodystrophy [RCV000353004]|PSAP-related disorder [RCV003940137]|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]|Hearing loss, autosomal recessive [RCV004577780]|Metachromatic leukodystrophy [RCV000267207]|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]|Hearing loss, autosomal recessive [RCV004577783]|Krabbe disease due to saposin A deficiency [RCV000405012]|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 disorder [RCV004529537]|Combined PSAP deficiency [RCV000404504]|Galactosylceramide beta-galactosidase deficiency [RCV000406507]|Hearing loss, autosomal recessive [RCV004577769]|Inborn genetic diseases [RCV003165815]|Metachromatic leukodystrophy [RCV000350786]|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]|Inborn genetic diseases [RCV004955406]|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]|Hearing loss, autosomal recessive [RCV004577777]|Metachromatic leukodystrophy [RCV000380695]|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 disorder [RCV004529535]|Combined PSAP deficiency [RCV000328937]|Galactosylceramide beta-galactosidase deficiency [RCV000273893]|Hearing loss, autosomal recessive [RCV004577767]|Metachromatic leukodystrophy [RCV000383482]|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]|Hearing loss, autosomal recessive [RCV004577776]|Metachromatic leukodystrophy [RCV000368083]|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 disorder [RCV004529547]|Combined PSAP deficiency [RCV000283671]|Gaucher disease due to saposin C deficiency [RCV000380533]|Hearing loss, autosomal recessive [RCV004577778]|Krabbe disease due to saposin A deficiency [RCV000322706]|PSAP-related disorder [RCV003910097]|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]|Hearing loss, autosomal recessive [RCV004577781]|Metachromatic leukodystrophy [RCV000319279]|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]|Hearing loss, autosomal recessive [RCV004577717]|Metachromatic leukodystrophy [RCV000305041]|Retinitis pigmentosa-deafness syndrome [RCV000312528]|Usher syndrome type 1D [RCV001105081]|not provided [RCV001523600]|not specified [RCV000039307] |
Chr10:71811764 [GRCh38] Chr10:71811764..71811765 [GRCh38] Chr10:73571521 [GRCh37] Chr10:73571521..73571522 [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]|Hearing loss, autosomal recessive [RCV004577718]|Metachromatic leukodystrophy [RCV000356182]|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]|CDH23-related disorder [RCV004534838]|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]|Hearing loss, autosomal recessive [RCV004577719]|Metachromatic leukodystrophy [RCV000311112]|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]|CDH23-related disorder [RCV004541126]|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 disorder [RCV004529546]|Combined PSAP deficiency [RCV000403587]|Galactosylceramide beta-galactosidase deficiency [RCV000286901]|Hearing loss, autosomal recessive [RCV004577774]|Metachromatic leukodystrophy [RCV000407781]|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 disorder [RCV004529536]|Combined PSAP deficiency [RCV000282351]|Galactosylceramide beta-galactosidase deficiency [RCV000340738]|Hearing loss, autosomal recessive [RCV004577768]|Metachromatic leukodystrophy [RCV000376807]|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]|Hearing loss, autosomal recessive [RCV004577779]|Krabbe disease due to saposin A deficiency [RCV000335403]|PSAP-related disorder [RCV003897683]|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 disorder [RCV004529548]|Combined PSAP deficiency [RCV000292556]|Galactosylceramide beta-galactosidase deficiency [RCV000388913]|Hearing loss, autosomal recessive [RCV004577782]|Metachromatic leukodystrophy [RCV000349779]|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]|Hearing loss, autosomal recessive [RCV004577775]|Metachromatic leukodystrophy [RCV000298356]|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]|Hearing loss, autosomal recessive [RCV004577772]|Metachromatic leukodystrophy [RCV000291512]|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 disorder [RCV004529533]|Combined PSAP deficiency [RCV000363140]|Galactosylceramide beta-galactosidase deficiency [RCV000396018]|Hearing loss, autosomal recessive [RCV004577766]|Metachromatic leukodystrophy [RCV000403032]|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 disorder [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]|not provided [RCV004719844] |
Chr10:71819093 [GRCh38] Chr10:73578850 [GRCh37] Chr10:10q22.1 |
pathogenic|likely 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]|PSAP-related disorder [RCV003902722]|Sphingolipid activator protein 1 deficiency [RCV001084808]|not provided [RCV000484673] |
Chr10:71829044 [GRCh38] Chr10:73588801 [GRCh37] Chr10:10q22.1 |
benign|likely 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]|PSAP-related disorder [RCV004722987] |
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]|PSAP-related disorder [RCV003960205]|Sphingolipid activator protein 1 deficiency [RCV001087790]|not provided [RCV000512836] |
Chr10:71851212 [GRCh38] Chr10:73610969 [GRCh37] Chr10:10q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002778.4(PSAP):c.128G>A (p.Gly43Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004023457]|Metachromatic leukodystrophy [RCV001829458]|Sphingolipid activator protein 1 deficiency [RCV001088093]|not provided [RCV000513446] |
Chr10:71834418 [GRCh38] Chr10:73594175 [GRCh37] Chr10:10q22.1 |
benign|likely 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] Chr10:71818746..71818747 [GRCh38] Chr10:73578503 [GRCh37] Chr10:73578503..73578504 [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]|not specified [RCV004782644] |
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 |
PSAP-related disorder [RCV003923297]|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 |
Inborn genetic diseases [RCV004958290]|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 |
PSAP-related disorder [RCV003892162]|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]|PSAP-related disorder [RCV003918568]|Sphingolipid activator protein 1 deficiency [RCV000974739]|not provided [RCV003736945] |
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]|PSAP-related disorder [RCV003913139]|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 |
PSAP-related disorder [RCV003970636]|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]|not provided [RCV004705892] |
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]|not provided [RCV004792724] |
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]|not provided [RCV004707486] |
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]|not provided [RCV003884798] |
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]|PSAP-related disorder [RCV003970825]|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 |
Krabbe disease due to saposin A deficiency [RCV004821301]|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]|not provided [RCV004705880] |
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]|Parkinson disease 24, autosomal dominant, susceptibility to [RCV004820867]|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 |
Gaucher disease due to saposin C deficiency [RCV005047275]|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]|not provided [RCV004762097] |
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]|Inborn genetic diseases [RCV004671346]|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 |
pathogenic|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 |
PSAP-related disorder [RCV003965927]|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 |
PSAP-related disorder [RCV003946125]|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 |
Inborn genetic diseases [RCV004952866]|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 |
PSAP-related disorder [RCV003900586]|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 |
Inborn genetic diseases [RCV004952957]|PSAP-related disorder [RCV003900748]|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 |
Sphingolipid activator protein 1 deficiency [RCV003626688]|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 |
Combined PSAP deficiency [RCV004798930]|Gaucher disease due to saposin C deficiency [RCV001801340]|Gaucher disease due to saposin C deficiency [RCV005040390]|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]|not specified [RCV004587239] |
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 |
|