MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:2798
Name:Combined Saposin Deficiency
Definition:
Alternative IDs:OMIM:611721
ParentIDs:MESH:D007966
TreeNumbers:C10.228.140.163.100.362.550/C567125 |C10.228.140.163.100.435.825.850.500/C567125 |C10.228.140.695.625.550/C567125 |C10.314.400.550/C567125 |C16.320.565.189.362.550/C567125 |C16.320.565.189.435.825.850.500/C567125 |C16.320.565.398.641.803.925.500/C567125 |C16.32
Synonyms:COMBINED SAP DEFICIENCY |Prosaposin Deficiency |PSAPD
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: C567125
MeSH: C567125
OMIM: 611721;
MSeqDR LSDB:  
Genes: PSAP;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003577Congenital onset
3 HP:0004343Abnormality of glycosphingolipid metabolism
4 HP:0002518Abnormality of the periventricular white matter
5 HP:0003487Babinski sign
6 HP:0007305CNS demyelination
7 HP:0001522Death in infancy
8 HP:0002380Fasciculations
9 HP:0011968Feeding difficulties
10 HP:0011169Generalized clonic seizures
11 HP:0001290Generalized hypotonia
12 HP:0002240Hepatomegaly
13 HP:0002487Hyperkinesis
14 HP:0002079Hypoplasia of the corpus callosum
15 HP:0001336Myoclonus
NAMDC:  Myoclonus
16 HP:0002529Neuronal loss in central nervous system
17 HP:0000648Optic atrophyHP:0040283
18 HP:0001744Splenomegaly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn)-1CDH23;PSAPConflicting interpretations of pathogenicityrs368441850RCV000299495|RCV000308492|RCV000338320|RCV000363140|RCV000396018|RCV000403032|RCV000407582|RCV001103168|RCV001103169; NMedGen:CN239439|MedGen:CN239218|MONDO:MONDO:0010775,MedGen:CN033130,OMIM:500004|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,107357148273571482GT10:g.73571482G>TClinGen:CA5546966CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9319+11G>A-1CDH23;PSAPBenign/Likely benignrs11000013RCV000039307|RCV000265040|RCV000301429|RCV000305041|RCV000312528|RCV000359537|RCV000405954|RCV001105081|RCV001105082|RCV001523600; NMedGen:CN169374|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MedGen:CN239218|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MONDO:MONDO:0010775,MedGen:CN033130,OMIM:500004|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200,107357152173571521GA10:g.73571521G>AClinGen:CA137635CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)-1CDH23;PSAPBenign/Likely benignrs45583140RCV000039308|RCV000086979|RCV000261040|RCV000271717|RCV000316294|RCV000356182|RCV000363966|RCV000389375|RCV001105085|RCV001105086|RCV001276927; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MedGen:CN239439|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MONDO:MONDO:0010775107357176573571765TC10:g.73571765T>CClinGen:CA137636CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=)-1CDH23;PSAPConflicting interpretations of pathogenicityrs144906721RCV000039310|RCV000276340|RCV000291787|RCV000331531|RCV000386012|RCV000888298|RCV001106213|RCV001106214|RCV001276928; NMedGen:CN169374|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MedGen:CN239218|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MedGen:CN517202|MONDO:MONDO:0011067107357235773572357GA10:g.73572357G>AClinGen:CA137640CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9510+13C>T-1CDH23;PSAPBenign/Likely benignrs183692794RCV000155615|RCV000286477|RCV000341426|RCV000346745|RCV000380976|RCV001106215|RCV001106216|RCV001276930|RCV001520244; NMedGen:CN169374|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MedGen:CN239218|MONDO:MONDO:0011067,MedGen:C1832394107357237973572379CT10:g.73572379C>TClinGen:CA183141CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9510+19_9510+25del-1CDH23;PSAPConflicting interpretations of pathogenicityrs149704197RCV000119817|RCV000301614|RCV000337881|RCV000396275|RCV000402429|RCV000604131|RCV001276931|RCV001523525; NMONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067, Orphanet:231169, Orphanet:886|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MedGen:CN239218|MONDO:MONDO:0009499,MedGen:C0023521107357238273572388GTCAGGCAG10:g.73572382_73572388delClinGen:CA269907CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9739-12G>A-1CDH23;PSAPConflicting interpretations of pathogenicityrs200638595RCV000273893|RCV000282753|RCV000328937|RCV000347081|RCV000368470|RCV000383482|RCV000407660|RCV001103257|RCV001103258|RCV001505966; NMONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MONDO:MONDO:0010775,MedGen:CN033130,OMIM:500004|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MedGen:CN239439|MedGen:CN239218|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,107357469773574697GA10:g.73574697G>AClinGen:CA5547169CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala)-1CDH23;PSAPBenign/Likely benignrs140463385RCV000039316|RCV000270308|RCV000285800|RCV000325564|RCV000380222|RCV000889474|RCV001103260|RCV001103259|RCV001276934; NMedGen:CN169374|MedGen:CN239218|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MedGen:CN517202|MONDO:MONDO:0010984107357472873574728AC10:g.73574728A>CClinGen:CA137647CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys)-1CDH23;PSAPConflicting interpretations of pathogenicityrs201727938RCV000282351|RCV000307536|RCV000340738|RCV000337406|RCV000352717|RCV000376807|RCV000403860|RCV001103261|RCV001103262; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MedGen:CN239439|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MedGen:CN239218|MONDO:MONDO:0010775,MedGen:CN033130,OMIM:500004|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,107357476973574769CT10:g.73574769C>TClinGen:CA5547178CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp)-1CDH23;PSAPConflicting interpretations of pathogenicityrs562590210RCV000263857|RCV000298268|RCV000313005|RCV000350786|RCV000367632|RCV000404504|RCV000406507|RCV000612885|RCV001105176|RCV001105177|RCV001833437|RCV002051835; NMONDO:MONDO:0010775,MedGen:CN033130,OMIM:500004|MedGen:CN239218|MedGen:CN239227|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MedGen:CN239439|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009499,MedGen:C0023107357483073574830GA10:g.73574830G>AClinGen:CA5547193CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=)-1CDH23;PSAPBenign/Likely benignrs2290021RCV000039317|RCV000300347|RCV000311112|RCV000309875|RCV000355079|RCV000368018|RCV000394283|RCV001105178|RCV001105179|RCV001271954|RCV001510618; NMedGen:CN169374|MONDO:MONDO:0010775,MedGen:CN033130,OMIM:500004|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MedGen:CN239439|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200,107357484373574843GA10:g.73574843G>AClinGen:CA137649CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=)-1CDH23;PSAPConflicting interpretations of pathogenicityrs55717455RCV000039318|RCV000267313|RCV000324862|RCV000358601|RCV000362216|RCV000886795|RCV001106300|RCV001106299|RCV001271956; NMedGen:CN169374|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MedGen:CN239218|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MedGen:CN517202|MONDO:MONDO:0011067107357487373574873CT10:g.73574873C>TClinGen:CA137651CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=)-1CDH23;PSAPConflicting interpretations of pathogenicityrs376804660RCV000260328|RCV000266027|RCV000279075|RCV000319045|RCV000324392|RCV000375963|RCV000378954|RCV000603434|RCV000898457|RCV001106305|RCV001106306|RCV001272666; NMedGen:CN239439|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MedGen:CN239218|MedGen:CN239227|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MONDO:MONDO:0010775107357491273574912GA10:g.73574912G>AClinGen:CA5547223CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=)-1CDH23;PSAPBenign/Likely benignrs73277900RCV000039319|RCV000296257|RCV000317831|RCV000348937|RCV000388265|RCV000965145|RCV001108523|RCV001108524|RCV001271957; NMedGen:CN169374|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MedGen:CN239218|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MedGen:CN517202|MONDO:MONDO:0011067107357494873574948CT10:g.73574948C>TClinGen:CA137653CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His)-1CDH23;PSAPConflicting interpretations of pathogenicityrs148475933RCV000290496|RCV000347839|RCV000405901|RCV000402629|RCV000613082|RCV001053104|RCV001108525|RCV001108526|RCV001271959; NMedGen:CN239218|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010984107357495373574953GA10:g.73574953G>AClinGen:CA5547234CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)-1CDH23;PSAPConflicting interpretations of pathogenicityrs377118941RCV000155061|RCV000290748|RCV000301703|RCV000308301|RCV000345678|RCV000360078|RCV000381558|RCV000395744|RCV000902585|RCV001108527|RCV001108528|RCV001826835; NMedGen:CN169374|MedGen:CN239439|MedGen:CN239218|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0010775,MedGen:CN033130,OMIM:500004|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MedGen:CN239227|MONDO:MONDO:0009107357499673574996CT10:g.73574996C>TClinGen:CA182096CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*68G>C-1CDH23;PSAPConflicting interpretations of pathogenicityrs527311705RCV000261585|RCV000298093|RCV000319096|RCV000353004|RCV000353011|RCV000358885|RCV000404597|RCV001105267|RCV001105266; NMONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MedGen:CN239439|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MedGen:CN239227|MedGen:CN239218|MONDO:MONDO:0010775107357510373575103GC10:g.73575103G>CClinGen:CA10628838CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*80G>A-1CDH23;PSAPConflicting interpretations of pathogenicityrs75715348RCV000260479|RCV000292479|RCV000332344|RCV000389276|RCV001105270|RCV001105271; NMedGen:CN239218|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orp107357511573575115GA10:g.73575115G>AClinGen:CA10654460CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*104G>C-1CDH23;PSAPConflicting interpretations of pathogenicityrs377312107RCV000291512|RCV000325433|RCV000331077|RCV000344023|RCV000383526|RCV000388243|RCV001106399|RCV001106400; NMONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MedGen:CN239439|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MedGen:CN239218|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MONDO:MONDO:0010775,MedGen:CN033130107357513973575139GC10:g.73575139G>CClinGen:CA10636104CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*141G>A-1CDH23;PSAPConflicting interpretations of pathogenicityrs535544696RCV000280807|RCV000286901|RCV000335794|RCV000339517|RCV000403587|RCV000407781|RCV000407452|RCV001106401|RCV001106402; NMedGen:CN239227|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MedGen:CN239439|MedGen:CN239218|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MONDO:MONDO:0010775107357517673575176GA10:g.73575176G>AClinGen:CA10636114CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*204A>G-1CDH23;PSAPBenign/Likely benignrs2290022RCV000286621|RCV000298356|RCV000299894|RCV000338493|RCV000341473|RCV000390678|RCV001108607|RCV001108606|RCV001672430; NMONDO:MONDO:0010775,MedGen:CN033130,OMIM:500004|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MedGen:CN239439|Med107357523973575239AG10:g.73575239A>GClinGen:CA10636115CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*349A>G-1CDH23;PSAPBenign/Likely benignrs1867978RCV000277087|RCV000301787|RCV000311190|RCV000368083|RCV000369416|RCV000407454|RCV001108611|RCV001530530|RCV001108610; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0010775,MedGen:CN033130,OMIM:500004|MedGen:CN239218|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|Med107357538473575384AG10:g.73575384A>GClinGen:CA10632049CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*361C>A-1CDH23;PSAPConflicting interpretations of pathogenicityrs115033851RCV000269900|RCV000271219|RCV000328475|RCV000365801|RCV000380695|RCV000402848|RCV001103427|RCV001103426|RCV001848072; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MedGen:CN239218|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MONDO:MONDO:0010775,MedGen:CN033130,OMIM:500004|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|Med107357539673575396CA10:g.73575396C>AClinGen:CA10635726CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*430A>T-1CDH23;PSAPConflicting interpretations of pathogenicityrs562268606RCV000277041|RCV000283671|RCV000307445|RCV000322706|RCV000340975|RCV000362197|RCV000380533|RCV001103430|RCV001103431; NMedGen:CN239227|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0010775,MedGen:CN033130,OMIM:500004|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|Med107357546573575465AT10:g.73575465A>TClinGen:CA10635727CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*434G>A-1CDH23;PSAPConflicting interpretations of pathogenicityrs529522213RCV000282687|RCV000332915|RCV000335403|RCV000368897|RCV000374590|RCV000404105|RCV001105353|RCV001105354; NMONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MedGen:CN239439|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0010775,MedGen:CN033130,OMIM:500004|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MON107357546973575469GANC_000010.10:g.73575469G>AClinGen:CA10635728CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*478G>C-1CDH23;PSAPConflicting interpretations of pathogenicityrs564392413RCV000273164|RCV000307212|RCV000365100|RCV000364174|RCV001106489|RCV001106490; NMONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MedGen:CN239218|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orp107357551373575513GC10:g.73575513G>CClinGen:CA10654462CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*510G>A-1CDH23;PSAPBenign/Likely benignrs1054635RCV000261813|RCV000267207|RCV000274238|RCV000320461|RCV000320011|RCV000377475|RCV001108678|RCV001108679|RCV001683212; NMONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MedGen:CN239439|MedGen:CN239218|MONDO:MONDO:0010775,MedGen:CN033130,OMIM:500004|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721,Orp107357554573575545GANC_000010.10:g.73575545G>AClinGen:CA10635729CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*515C>A-1CDH23;PSAPConflicting interpretations of pathogenicityrs16929375RCV000279258|RCV000280245|RCV000319279|RCV000350653|RCV000374819|RCV000371463|RCV001108680|RCV001108681; NMedGen:CN239218|MedGen:CN239439|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0010775,MedGen:CN033130,OMIM:500004|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200,107357555073575550CANC_000010.10:g.73575550C>AClinGen:CA10632052CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*588del-1CDH23;PSAPConflicting interpretations of pathogenicityrs148667421RCV000285698|RCV000292556|RCV000316739|RCV000349779|RCV000380623|RCV000388913|RCV000407274; NMedGen:CN239227|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MedGen:CN239439|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MONDO:MONDO:0010775,MedGen:CN033130,OMIM:500004|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200,107357562173575621TATNC_000010.10:g.73575623delClinGen:CA10635730CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.*891G>A-1CDH23;PSAPBenign/Likely benignrs7869RCV000261832|RCV000291291|RCV000311054|RCV000344085|RCV000356626|RCV000405012|RCV001689996; NMONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MedGen:CN239439|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0010775,MedGen:CN033130,OMIM:500004|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721,Orp107357630773576307CTNC_000010.10:g.73576307C>TClinGen:CA10632053CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.*238G>C-1CDH23;PSAPUncertain significancers1174797357RCV001106701|RCV001106703|RCV001106705|RCV001106702|RCV001106704|RCV001106700; NMONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386, Orphanet:90636|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252,O107357696073576960CG10:g.73576960C>G-
NM_002778.4(PSAP):c.1351-14A>G-1CDH23;PSAPBenign/Likely benignrs4747203RCV000080034|RCV000291365|RCV000343946|RCV000340431|RCV000406452|RCV000400368|RCV000676139|RCV001103804|RCV001103803|RCV001103805; NMedGen:CN169374|MedGen:CN239218|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MedGen:CN239227|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MedGen:CN517202|MON107357888273578882TC10:g.73578882T>CClinGen:CA147600CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.1350+5G>A-1CDH23;PSAPBenign/Likely benignrs11000016RCV000241705|RCV000304444|RCV000313723|RCV000361450|RCV000370757|RCV000391848|RCV000405067|RCV000676140|RCV001103806|RCV001103807|RCV001103808; NMedGen:CN169374|MedGen:CN239439|MedGen:CN239218|MONDO:MONDO:0010775,MedGen:CN033130,OMIM:500004|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MONDO:MONDO:0009499,MedGen:C0023107357921773579217CT10:g.73579217C>TClinGen:CA5547393CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.*1008C>T5660PSAPUncertain significancers537171961RCV001103521|RCV001103522|RCV001108682|RCV001108683; NMONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252,Orp107357619073576190GA10:g.73576190G>A-
NM_002778.4(PSAP):c.*935A>G5660PSAPUncertain significancers886047148RCV000307133|RCV000352616|RCV000346885|RCV000407853; NMONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252,Orp107357626373576263TCNC_000010.10:g.73576263T>CClinGen:CA10636116CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.*859C>T5660PSAPUncertain significancers886047149RCV000267687|RCV000298014|RCV000322739|RCV000352959; NMONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107357633973576339GANC_000010.10:g.73576339G>AClinGen:CA10632054CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.*787C>T5660PSAPUncertain significancers932052243RCV001105456|RCV001105455|RCV001106601|RCV001106600; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107357641173576411GA10:g.73576411G>A-
NM_002778.4(PSAP):c.*775G>A5660PSAPBenignrs79662404RCV000264363|RCV000328693|RCV000377635|RCV000383317|RCV001712009; NMONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252,Orp107357642373576423CTNC_000010.10:g.73576423C>TClinGen:CA10635732CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.*737G>A5660PSAPConflicting interpretations of pathogenicityrs147046509RCV001106602|RCV001106603|RCV001108767|RCV001108768; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252,Orp107357646173576461CT10:g.73576461C>T-
NM_002778.4(PSAP):c.*596A>G5660PSAPUncertain significancers965039324RCV001108769|RCV001108770|RCV001108771|RCV001108772; NMONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722,Orp107357660273576602TC10:g.73576602T>C-
NM_002778.4(PSAP):c.*574G>C5660PSAPUncertain significancers549402343RCV000289093|RCV000295048|RCV000344036|RCV000389343; NMONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107357662473576624CGNC_000010.10:g.73576624C>GClinGen:CA10632055CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.*526G>A5660PSAPUncertain significancers1842177081RCV001103618|RCV001103615|RCV001103616|RCV001103617; NMONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721,Orphan107357667273576672CT10:g.73576672C>T-
NM_002778.4(PSAP):c.*376A>G5660PSAPConflicting interpretations of pathogenicityrs141906397RCV001103620|RCV001103619|RCV001105558|RCV001105559; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252,Orp107357682273576822TC10:g.73576822T>C-
NM_002778.4(PSAP):c.*346C>T5660PSAPUncertain significancers951110904RCV001105560|RCV001105561|RCV001105562|RCV001105563; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252,Orp107357685273576852GA10:g.73576852G>A-
NM_002778.4(PSAP):c.*276G>A5660PSAPUncertain significancers547409137RCV000299671|RCV000338205|RCV000349996|RCV000392420; NMONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252,Orp107357692273576922CTNC_000010.10:g.73576922C>TClinGen:CA10628840CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.*122C>G5660PSAPConflicting interpretations of pathogenicityrs113284884RCV000267855|RCV000298428|RCV000360087|RCV000390908|RCV001556327; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722,Orp107357707673577076GC10:g.73577076G>CClinGen:CA10628841CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.*113C>T5660PSAPUncertain significancers544214520RCV000271245|RCV000301719|RCV000328683|RCV000358827; NMONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107357708573577085GA10:g.73577085G>AClinGen:CA10628842CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.*90C>T5660PSAPUncertain significancers1348415797RCV001103715|RCV001103718|RCV001103716|RCV001103717; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252,Orp107357710873577108GA10:g.73577108G>A-
NM_002778.4(PSAP):c.*73C>T5660PSAPUncertain significancers541692197RCV000270083|RCV000332122|RCV000380700|RCV000388972; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107357712573577125GA10:g.73577125G>AClinGen:CA10628844CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.*9A>G5660PSAPConflicting interpretations of pathogenicityrs376628499RCV000279004|RCV000294266|RCV000318911|RCV000375756; NMONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107357718973577189TC10:g.73577189T>CClinGen:CA5547287CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.1540-34C>T5660PSAPBenignrs4747202RCV000241823|RCV001689838|RCV001789279|RCV001789280|RCV001789281; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487107357726773577267GA10:g.73577267G>AClinGen:CA5547306CN169374 not specified;
NM_002778.4(PSAP):c.1476T>C (p.Thr492=)5660PSAPConflicting interpretations of pathogenicityrs139178900RCV000287337|RCV000336521|RCV000340063|RCV000904670; NMONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107357843773578437AG10:g.73578437A>GClinGen:CA5547327CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr)5660PSAPConflicting interpretations of pathogenicityrs749660716RCV000309664|RCV000366675|RCV000402799|RCV000407182; NMONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252,Orp107357845773578457GA10:g.73578457G>AClinGen:CA5547329CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.1452G>A (p.Ser484=)5660PSAPBenignrs114389264RCV000277898|RCV000308371|RCV000330576|RCV000974716|RCV001271961|RCV001689997; NMONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107357846173578461CT10:g.73578461C>TClinGen:CA5547330CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.1432-4A>G5660PSAPConflicting interpretations of pathogenicityrs775086571RCV000261764|RCV000319311|RCV000368118|RCV000371699; NMONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252,Orp107357848573578485TC10:g.73578485T>CClinGen:CA5547334CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.1432-22C>T5660PSAPBenignrs885828RCV000676138|RCV001538005|RCV001538006|RCV001538007; NMedGen:CN517202|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512107357850373578503GANC_000010.10:g.73578503G>A-CN517202 not provided;
NM_002778.4(PSAP):c.1431+116C>T5660PSAPBenign-1RCV001538008|RCV001538009|RCV001538010|RCV001707895; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MedGen:CN517202107357867273578672GA73578672-
NM_002778.4(PSAP):c.1380C>T (p.Pro460=)5660PSAPBenign/Likely benignrs1049882RCV000250058|RCV000282920|RCV000322786|RCV000379713|RCV000884810|RCV001271962; NMedGen:CN169374|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0009590,MedGen:C0268262107357883973578839GA10:g.73578839G>AClinGen:CA5547366CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.1369G>T (p.Glu457Ter)5660PSAPPathogenicrs1554879741RCV000505561; NMONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487; MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355; MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512; MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721,Orphan107357885073578850CA10:g.73578850C>AClinGen:CA377142142C2673635 611721 Combined saposin deficiency;
NM_002778.4(PSAP):c.1329G>T (p.Leu443=)5660PSAPUncertain significancers1842249121RCV001105745|RCV001105746|RCV001105747|RCV001105748; NMONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252,Orp107357924373579243CA10:g.73579243C>A-
NM_002778.4(PSAP):c.1281C>T (p.Ser427=)5660PSAPBenign/Likely benignrs529776324RCV000925688|RCV001272670|RCV001579113|RCV001579247; NMONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406107357929173579291GA10:g.73579291G>A-
NM_002778.4(PSAP):c.1278C>T (p.Asn426=)5660PSAPConflicting interpretations of pathogenicityrs777227555RCV000259660|RCV000299749|RCV000356874|RCV000932186|RCV001272671; NMONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107357929473579294GA10:g.73579294G>AClinGen:CA5547413CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.1261C>T (p.Arg421Cys)5660PSAPConflicting interpretations of pathogenicityrs529719024RCV000267782|RCV000320675|RCV000360171|RCV000377595; NMONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107357931173579311GA10:g.73579311G>AClinGen:CA5547418CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.1258G>A (p.Asp420Asn)5660PSAPUncertain significancers760621775RCV000271167|RCV000288610|RCV000328597|RCV000380910; NMONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MedGen:CN239218107357931473579314CT10:g.73579314C>TClinGen:CA5547420CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.1197C>T (p.His399=)5660PSAPConflicting interpretations of pathogenicityrs748761213RCV001106864|RCV001106865|RCV001106866|RCV001106867; NMONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722,Orp107357937573579375GA10:g.73579375G>A-
NM_002778.4(PSAP):c.1193-26G>A5660PSAPBenignrs3747860RCV000250338|RCV000676141|RCV001538040|RCV001538041|RCV001538042; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512107357940573579405CT10:g.73579405C>TClinGen:CA5547440CN517202 not provided;
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met)5660PSAPConflicting interpretations of pathogenicityrs202125074RCV000349589|RCV000350842|RCV000389048|RCV001044241|RCV001833438; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107357949173579491GA10:g.73579491G>AClinGen:CA5547470CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.1146C>T (p.Cys382=)5660PSAPConflicting interpretations of pathogenicityrs573095617RCV000943827|RCV001107536|RCV001107538|RCV001107537|RCV001272673; NMONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252,Orp107357951773579517GA10:g.73579517G>A-
NM_002778.4(PSAP):c.1088C>T (p.Thr363Met)5660PSAPConflicting interpretations of pathogenicityrs140066253RCV000301263|RCV000335258|RCV000390963|RCV000390949|RCV001356155|RCV001828310; NMONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107357957573579575GA10:g.73579575G>AClinGen:CA5547484CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.1056C>T (p.Ser352=)5660PSAPConflicting interpretations of pathogenicityrs138328594RCV000264576|RCV000303307|RCV000304947|RCV000361976|RCV000973449|RCV001103918|RCV001103919; NMONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MedGen:CN239218|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107357960773579607GA10:g.73579607G>AClinGen:CA5547494CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.1006-8_1021del5660PSAPLikely pathogenic-1RCV001542767; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406107357964273579665GCGTCGAGTATTTCTTTCTGAAACAG73579641-
NM_002778.4(PSAP):c.1012A>G (p.Ile338Val)5660PSAPConflicting interpretations of pathogenicityrs544300820RCV000273320|RCV000325945|RCV000365539|RCV000382922; NMONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252,Orp107357965173579651TC10:g.73579651T>CClinGen:CA5547512CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.1006-2A>G5660PSAPLikely pathogenicrs1589446748RCV000014302|RCV001851850; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512107357965973579659TC10:g.73579659T>COMIM:176801.0013C2673635 611721 Combined saposin deficiency;
NM_002778.4(PSAP):c.1005+18C>T5660PSAPBenignrs55829339RCV000080033|RCV000676143|RCV001511826|RCV001538044|RCV001538043; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406107357997973579979GA10:g.73579979G>AClinGen:CA147599CN517202 not provided;
NM_002778.4(PSAP):c.1000A>T (p.Thr334Ser)5660PSAPConflicting interpretations of pathogenicityrs749663645RCV000276629|RCV000294309|RCV000333973|RCV000386288; NMONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252,Orp107358000273580002TA10:g.73580002T>AClinGen:CA5547544CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.923C>T (p.Pro308Leu)5660PSAPUncertain significancers886047150RCV000279263|RCV000337925|RCV000341259|RCV000371610; NMONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721,Orphan107358007973580079GA10:g.73580079G>AClinGen:CA10635736CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.911A>G (p.Lys304Arg)5660PSAPUncertain significancers757553906RCV000301802|RCV000340234|RCV000390115|RCV000407241; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722,Orp107358009173580091TC10:g.73580091T>CClinGen:CA5547563CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.909+32G>T5660PSAPBenignrs41307569RCV000247827|RCV001538046|RCV001538045|RCV001538047|RCV001610631; NMedGen:CN169374|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MedGen:CN517202107358160173581601CA10:g.73581601C>AClinGen:CA5547577CN169374 not specified;
NM_002778.4(PSAP):c.798G>A (p.Ala266=)5660PSAPConflicting interpretations of pathogenicityrs199672678RCV000270227|RCV000310085|RCV000313643|RCV000362418|RCV001833439; NMONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107358174473581744CTNC_000010.10:g.73581744C>TClinGen:CA5547598CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.722G>C (p.Cys241Ser)5660PSAPPathogenicrs121918104RCV000014291|RCV000588928; NMONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406107358564973585649CG10:g.73585649C>GClinGen:CA123057,UniProtKB:P07602#VAR_006944,OMIM:176801.0003C2673635 611721 Combined saposin deficiency;
NM_002778.4(PSAP):c.714C>G (p.Ala238=)5660PSAPConflicting interpretations of pathogenicityrs141199649RCV000332576|RCV000354645|RCV000370671|RCV000902915; NMONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107358777773587777GCNC_000010.10:g.73587777G>CClinGen:CA5547688CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.698T>G (p.Leu233Arg)5660PSAPLikely pathogenic-1RCV001542768; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406107358779373587793AC73587793-
NM_002778.4(PSAP):c.679_681del (p.Lys227del)5660PSAPPathogenic/Likely pathogenicrs1431844269RCV000755006|RCV001528144; NMONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406107358781073587812CCTTCNC_000010.10:g.73587810_73587812del-
NM_002778.4(PSAP):c.577-10T>C5660PSAPConflicting interpretations of pathogenicityrs185892516RCV000259735|RCV000284433|RCV000319640|RCV000898101; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107358792473587924AGNC_000010.10:g.73587924A>GClinGen:CA5547724CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.570G>T (p.Gln190His)5660PSAPBenign/Likely benignrs142272618RCV000285482|RCV000345152|RCV000379808|RCV000974717|RCV001546038|RCV001271964; NMONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107358864073588640CANC_000010.10:g.73588640C>AClinGen:CA5547743CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.565C>T (p.Pro189Ser)5660PSAPConflicting interpretations of pathogenicityrs188854022RCV001104311|RCV001104312|RCV001104309|RCV001104310; NMONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107358864573588645GA10:g.73588645G>A-
NM_002778.4(PSAP):c.557G>A (p.Arg186His)5660PSAPConflicting interpretations of pathogenicityrs138880818RCV000291043|RCV000345936|RCV000391944|RCV000401145; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252,Orp107358865373588653CTNC_000010.10:g.73588653C>TClinGen:CA5547747CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.508C>G (p.Pro170Ala)5660PSAPUncertain significancers761637109RCV001107064|RCV001107065|RCV001107066|RCV001107063; NMONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107358870273588702GC10:g.73588702G>C-
NM_002778.4(PSAP):c.423C>T (p.Leu141=)5660PSAPConflicting interpretations of pathogenicityrs780891597RCV001107070|RCV001107069|RCV001107067|RCV001107068; NMONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107358878773588787GA10:g.73588787G>A-
NM_002778.4(PSAP):c.419C>T (p.Ser140Phe)5660PSAPUncertain significancers1428436713RCV001107738|RCV001107735|RCV001107736|RCV001107737; NMONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721,Orphan107358879173588791GA10:g.73588791G>A-
NM_002778.4(PSAP):c.409C>G (p.Leu137Val)5660PSAPConflicting interpretations of pathogenicityrs377027316RCV000484673|RCV001084808|RCV001335064|RCV001272680; NMedGen:CN517202|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512107358880173588801GC10:g.73588801G>CClinGen:CA5547774CN169374 not specified;
NM_002778.4(PSAP):c.380G>A (p.Arg127His)5660PSAPUncertain significancers886047151RCV000298228|RCV000311141|RCV000370513|RCV000408327; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252,Orp107358883073588830CTNC_000010.10:g.73588830C>TClinGen:CA10628855CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.336C>T (p.Ser112=)5660PSAPBenign/Likely benignrs370977178RCV000322338|RCV000358497|RCV000357299|RCV000967680; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107359092273590922GANC_000010.10:g.73590922G>AClinGen:CA5547800CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.250-12G>A5660PSAPConflicting interpretations of pathogenicityrs886047152RCV000268193|RCV000288083|RCV000323233|RCV000382490; NMONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721,Orphan107359102073591020CTNC_000010.10:g.73591020C>TClinGen:CA10636149CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.249+6C>T5660PSAPConflicting interpretations of pathogenicityrs774663731RCV001104399|RCV001104400|RCV001104401|RCV001104402; NMONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721,Orphan107359159773591597GA10:g.73591597G>A-
NM_002778.4(PSAP):c.227T>A (p.Met76Lys)5660PSAPConflicting interpretations of pathogenicityrs377024801RCV000294452|RCV000329512|RCV000349338|RCV000384126; NMONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721,Orphan107359162573591625ATNC_000010.10:g.73591625A>TClinGen:CA5547842CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.204C>T (p.Asp68=)5660PSAPBenign/Likely benignrs143981174RCV000295411|RCV000336409|RCV000390895|RCV001271965|RCV000960618|RCV002056130; NMONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,Orp107359164873591648GANC_000010.10:g.73591648G>AClinGen:CA5547849CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.189C>T (p.Cys63=)5660PSAPConflicting interpretations of pathogenicityrs111369573RCV000300495|RCV000301590|RCV000355292|RCV000971779|RCV001672431; NMONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107359166373591663GANC_000010.10:g.73591663G>AClinGen:CA5547853CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.174+9C>T5660PSAPConflicting interpretations of pathogenicityrs141133813RCV000307686|RCV000361163|RCV000362343|RCV000895393; NMONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107359412073594120GANC_000010.10:g.73594120G>AClinGen:CA5547878CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.167C>G (p.Pro56Arg)5660PSAPLikely benignrs571773332RCV000272506|RCV000274090|RCV000327586|RCV000386828; NMedGen:CN239218|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512107359413673594136GCNC_000010.10:g.73594136G>CClinGen:CA5547881CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.113C>T (p.Thr38Met)5660PSAPUncertain significancers145181011RCV001335062; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406107359419073594190GA73594190-
NM_002778.4(PSAP):c.112A>T (p.Thr38Ser)5660PSAPConflicting interpretations of pathogenicityrs535525554RCV000279820|RCV000333853|RCV000334914|RCV000388278; NMONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252,Orp107359419173594191TANC_000010.10:g.73594191T>AClinGen:CA5547902CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.94T>G (p.Trp32Gly)5660PSAPUncertain significancers200008050RCV000284356|RCV000339496|RCV000374243|RCV000390195; NMONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721,Orphan107359420973594209ACNC_000010.10:g.73594209A>CClinGen:CA5547905CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser)5660PSAPConflicting interpretations of pathogenicityrs144942998RCV000304205|RCV000345088|RCV000393668|RCV000972285|RCV001552293; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107359421573594215CANC_000010.10:g.73594215C>AClinGen:CA5547906CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.78C>T (p.Thr26=)5660PSAPBenignrs74145688RCV000310907|RCV000370278|RCV000364543|RCV000959111|RCV001833440; NMONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp107359422573594225GANC_000010.10:g.73594225G>AClinGen:CA5547911CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.41-13G>C5660PSAPConflicting interpretations of pathogenicityrs138010978RCV000263028|RCV000275892|RCV000316930|RCV000371674; NMONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721,Orphan107359427573594275CGNC_000010.10:g.73594275C>GClinGen:CA5547926CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.40+12G>A5660PSAPConflicting interpretations of pathogenicityrs886047153RCV000283508|RCV000318811|RCV000343158|RCV000378161; NMONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252,Orp107361092773610927CTNC_000010.10:g.73610927C>TClinGen:CA10636150CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.28C>T (p.Leu10Phe)5660PSAPUncertain significancers779742363RCV000994442|RCV001328992|RCV001858787; NMedGen:CN517202|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512107361095173610951GA10:g.73610951G>A-
NM_002778.4(PSAP):c.11T>C (p.Leu4Pro)5660PSAPUncertain significancers958206407RCV001335063|RCV001760435|RCV001871865; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MedGen:CN517202|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512107361096873610968AG73610968-
NM_002778.4(PSAP):c.1A>T (p.Met1Leu)5660PSAPPathogenicrs121918106RCV000014293|RCV000014294|RCV001857349; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512107361097873610978TA10:g.73610978T>AClinGen:CA123061,OMIM:176801.0005C2673635 611721 Combined saposin deficiency;
NM_002778.4(PSAP):c.-4C>T5660PSAPBenignrs2070188RCV000248638|RCV000289299|RCV000344174|RCV000379052|RCV000401140|RCV000676144|RCV001833274; NMedGen:CN169374|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012720,MedGen:C2673266107361098273610982GA10:g.73610982G>AClinGen:CA5547951CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.-10A>G5660PSAPBenignrs76455588RCV000254128|RCV000315569|RCV000309648|RCV000350452|RCV000408244|RCV000676145; NMedGen:CN169374|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539,Orp107361098873610988TC10:g.73610988T>CClinGen:CA5547952CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.-22G>C5660PSAPUncertain significancers569841336RCV000297923|RCV000357433|RCV000369974|RCV000408218; NMONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721,Orphan107361100073611000CGNC_000010.10:g.73611000C>GClinGen:CA5547956CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.-28A>C5660PSAPConflicting interpretations of pathogenicityrs375720661RCV000245942|RCV000266404|RCV000265215|RCV000320357|RCV000360960; NMedGen:CN169374|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009590,MedGen:C0268262107361100673611006TGNC_000010.10:g.73611006T>GClinGen:CA5547957CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.-29C>T5660PSAPLikely benignrs201780377RCV000291198|RCV000327522|RCV000326253|RCV000380853; NMONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722,Orp107361100773611007GANC_000010.10:g.73611007G>AClinGen:CA5547959CN239218 Atypical Gaucher Disease;
NM_002778.3(PSAP):c.-33T>C5660PSAPLikely benignrs143987544RCV000294131|RCV000351340|RCV000386758|RCV000398978; NMONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MedGen:CN239218107361101173611011AGNC_000010.10:g.73611011A>GClinGen:CA5547962CN239218 Atypical Gaucher Disease;
NM_002778.3(PSAP):c.-50G>T5660PSAPUncertain significancers886047154RCV000278698|RCV000301040|RCV000336145|RCV000399236; NMONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MedGen:CN239218|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487107361102873611028CANC_000010.10:g.73611028C>AClinGen:CA10632059CN239218 Atypical Gaucher Disease;
NM_002778.3(PSAP):c.-56A>G5660PSAPUncertain significancers534586960RCV000304421|RCV000361509|RCV000357989|RCV000392509; NMedGen:CN239218|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512107361103473611034TCNC_000010.10:g.73611034T>CClinGen:CA10635760CN239218 Atypical Gaucher Disease;
NM_002778.3(PSAP):c.-62A>G5660PSAPUncertain significancers886047155RCV000272681|RCV000269230|RCV000326587|RCV000364883; NMONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MedGen:CN239218107361104073611040TCNC_000010.10:g.73611040T>CClinGen:CA10635761CN239218 Atypical Gaucher Disease;
NM_002778.3(PSAP):c.-65C>T5660PSAPLikely benignrs145948209RCV000294630|RCV000329668|RCV000333211|RCV000386588; NMONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MedGen:CN239218|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512107361104373611043GA10:g.73611043G>AClinGen:CA10628878CN239218 Atypical Gaucher Disease;
NM_002778.3(PSAP):c.-99T>G5660PSAPUncertain significancers886047156RCV000279433|RCV000336843|RCV000371619|RCV000375131; NMONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MedGen:CN239218|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487107361107773611077AC10:g.73611077A>CClinGen:CA10628880CN239218 Atypical Gaucher Disease;
NM_001042465.2(PSAP):c.-118G>A5660PSAPLikely benignrs28365838RCV000259641|RCV000395916|RCV000303370|RCV000355868; NMedGen:CN239218|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487107361109673611096CT10:g.73611096C>TClinGen:CA10654463CN239218 Atypical Gaucher Disease;
NM_001042465.2:c.-130T>C5660PSAPBenign/Likely benign-1RCV001537939|RCV001537937|RCV001537938|RCV001692463; NMONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487|MedGen:CN517202107361110873611108AG73611108-
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)-1PSAP;CDH23Conflicting interpretations of pathogenicityrs144688588RCV000155059|RCV000277348|RCV000298108|RCV000313766|RCV000317072|RCV000353393|RCV000371681|RCV001241617|RCV001276933|RCV001526764; NMedGen:CN169374|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MedGen:CN239218|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MONDO:MONDO:0010775,MedGen:CN033130,OMIM:500004|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721,Orp107357264373572643TC10:g.73572643T>CClinGen:CA182092CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*439C>T-1PSAP;CDH23Conflicting interpretations of pathogenicityrs140312023RCV000312734|RCV000352338|RCV000314348|RCV000403296|RCV001106487|RCV001106488; NMedGen:CN239218|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orp107357547473575474CT10:g.73575474C>TClinGen:CA10654461CN239218 Atypical Gaucher Disease;
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