Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	SNV Germline	Chr1:155235252	Pathogenic; risk factor	Gaucher disease type II Gaucher disease type I Gaucher disease type III Parkinson disease, late-onset Dementia, Lewy body, susceptibility to Gaucher disease Movement disorder Hypomimic face Thoracolumbar scoliosis Parkinsonian disorder Resting tremor Condition: not provided Gaucher disease perinatal lethal Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome not specified 7 conditions GBA1-related disorder Lewy body dementia	Criteria Provided Multiple Submitters No Conflicts	CA116765	rs_421016	35 SubmittersRCV000004509 RCV000004511 RCV000004510 RCV000004512 RCV000004513 RCV000020150 RCV000626625 RCV000413257 RCV001197164 RCV001004112 RCV004018555 RCV002476924 RCV003398445 RCV003987311
NM_000157.4(GBA1):c.1361C>G (p.Pro454Arg)	SNV Germline	Chr1:155235708	Pathogenic	Gaucher disease type II	No Assertion Criteria Provided	CA253055	rs_121908295	1 SubmittersRCV000004514
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	SNV Germline	Chr1:155235843	Pathogenic/Likely pathogenic; risk factor	Dementia, Lewy body, susceptibility to Gaucher disease type I Parkinson disease, late-onset Condition: not provided Gaucher disease Rigidity Akinesia 7 conditions Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease perinatal lethal Parkinson disease Abnormal bleeding Thrombocytopenia Lewy body dementia GBA1-related disorder not specified Parkinson disease, late-onset Lewy body dementia	Criteria Provided Multiple Submitters No Conflicts	CA116767	rs_76763715	41 SubmittersRCV000004517 RCV000004515 RCV000004516 RCV000079336 RCV000396221 RCV000414782 RCV000515439 RCV001004117 RCV001197918 RCV001195689 RCV001270528 RCV002247244 RCV003982824 RCV004018556 RCV004555830
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln)	SNV Germline	Chr1:155238629	Pathogenic/Likely pathogenic	Gaucher disease perinatal lethal Gaucher disease type I Gaucher disease Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type I Gaucher disease type II Gaucher disease type III Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253057	rs_79653797	7 SubmittersRCV000004519 RCV000004518 RCV000020154 RCV001250522 RCV001781178
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)	SNV Germline	Chr1:155235772	Pathogenic/Likely pathogenic	Gaucher disease type III Gaucher disease type I Gaucher disease 7 conditions Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Condition: not provided Parkinson disease, late-onset	Criteria Provided Multiple Submitters No Conflicts	CA253059	rs_80356769	9 SubmittersRCV000004520 RCV000004521 RCV000020148 RCV000762854 RCV001004115 RCV001382044 RCV001836694
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)	SNV Germline	Chr1:155235727	Pathogenic/Likely pathogenic	Gaucher disease perinatal lethal Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease Condition: not provided 7 conditions Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Parkinson disease, late-onset not specified	Criteria Provided Multiple Submitters No Conflicts	CA221392	rs_1064651	22 SubmittersRCV000004526 RCV000004522 RCV000004523 RCV000004524 RCV000004525 RCV000055773 RCV000079338 RCV000762853 RCV001004114 RCV001836695 RCV004018557
NM_000157.4(GBA1):c.1343A>T (p.Asp448Val)	SNV Germline	Chr1:155235726	Likely pathogenic	Gaucher disease type III Gaucher disease Gaucher disease type I	Criteria Provided Single Submitter	CA253061	rs_77369218	3 SubmittersRCV000004527 RCV000020149 RCV000411499
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)	SNV Germline	Chr1:155235196	Pathogenic	Gaucher disease type II Gaucher disease type I Gaucher disease type III Parkinson disease, late-onset Condition: not provided Gaucher disease 7 conditions Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome not specified	Criteria Provided Multiple Submitters No Conflicts	CA221394	rs_80356771	20 SubmittersRCV000004529 RCV000004528 RCV000004530 RCV000004531 RCV000079343 RCV000020151 RCV000762852 RCV001004110 RCV004018558
NM_000157.4(GBA1):c.254G>A (p.Gly85Glu)	SNV Germline	Chr1:155239939	Pathogenic	Gaucher disease type I Gaucher disease	Criteria Provided Multiple Submitters No Conflicts	CA253063	rs_77829017	5 SubmittersRCV000004532 RCV000781409
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)	SNV Germline	Chr1:155237576	Pathogenic/Likely pathogenic	Gaucher disease type I Condition: not provided Gaucher disease Parkinson disease, late-onset Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA253065	rs_74500255	12 SubmittersRCV000004537 RCV000498055 RCV001248860 RCV001705580 RCV001004127 RCV002476925
NM_000157.4(GBA1):c.586A>C (p.Lys196Gln)	SNV Germline	Chr1:155238519	Conflicting classifications of pathogenicity	Gaucher disease type I Condition: not provided	No Assertion Criteria Provided	CA253067	rs_121908297	4 SubmittersRCV000004539 RCV001572837
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)	SNV Germline	Chr1:155238141	Pathogenic/Likely pathogenic	Gaucher disease type III Gaucher disease type II Gaucher disease type I Gaucher disease Condition: not provided 7 conditions not specified	Criteria Provided Multiple Submitters No Conflicts	CA221413	rs_381737	10 SubmittersRCV000004540 RCV000004541 RCV000004542 RCV000020158 RCV000790654 RCV002482827 RCV004018559
NM_000157.4(GBA1):c.1309G>T (p.Val437Phe)	SNV Germline	Chr1:155235760	Pathogenic	Gaucher disease perinatal lethal	No Assertion Criteria Provided	CA253069	rs_121908310	1 SubmittersRCV000004544
NM_000157.4(GBA1):c.983C>T (p.Pro328Leu)	SNV Germline	Chr1:155237357	Pathogenic	Gaucher disease type I	No Assertion Criteria Provided	CA253072	rs_121908298	1 SubmittersRCV000004547
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile)	SNV Germline	Chr1:155236384	Pathogenic/Likely pathogenic	Gaucher disease type I Gaucher disease type II Gaucher disease 7 conditions Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253074	rs_76539814	6 SubmittersRCV000004548 RCV000041967 RCV001193934 RCV002496255 RCV003137492
NM_000157.4(GBA1):c.481C>T (p.Pro161Ser)	SNV Germline	Chr1:155238624	Pathogenic	Gaucher disease type I	No Assertion Criteria Provided	CA253077	rs_121908299	1 SubmittersRCV000004550
NM_000157.4(GBA1):c.1549G>A (p.Gly517Ser)	SNV Germline	Chr1:155235057	Pathogenic	Gaucher disease type I Condition: not provided	Criteria Provided Single Submitter	CA253081	rs_121908301	2 SubmittersRCV000004552 RCV001171764
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)	SNV Germline	Chr1:155235002	Pathogenic/Likely pathogenic	Gaucher disease type I Gaucher disease Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome 7 conditions Condition: not provided Parkinson disease, late-onset not specified	Criteria Provided Multiple Submitters No Conflicts	CA234081	rs_75822236	18 SubmittersRCV000004553 RCV000020153 RCV001004108 RCV000762851 RCV000790684 RCV001836698 RCV004018560
NM_000157.4(GBA1):c.160G>T (p.Val54Leu)	SNV Germline	Chr1:155240033	Pathogenic	Gaucher disease type I	No Assertion Criteria Provided	CA253084	rs_121908302	2 SubmittersRCV000004556
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser)	SNV Germline	Chr1:155238215	Pathogenic	Gaucher disease type I Gaucher disease type III Gaucher disease Condition: not provided Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA253086	rs_364897	11 SubmittersRCV000004557 RCV000004558 RCV000020156 RCV000723402 RCV001004131 RCV002504742
NM_000157.4(GBA1):c.763T>G (p.Phe255Val)	SNV Germline	Chr1:155237577	Pathogenic	Gaucher disease type I	No Assertion Criteria Provided	CA253088	rs_121908303	1 SubmittersRCV000004559
NM_000157.4(GBA1):c.1043C>T (p.Ala348Val)	SNV Germline	Chr1:155236426	Pathogenic	Gaucher disease type I	No Assertion Criteria Provided	CA253090	rs_78396650	1 SubmittersRCV000004560
NM_000157.4(GBA1):c.1053G>T (p.Trp351Cys)	SNV Germline	Chr1:155236416	Pathogenic	Gaucher disease type I	No Assertion Criteria Provided	CA253092	rs_121908304	1 SubmittersRCV000004561
NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg)	SNV Germline	Chr1:155236379	Likely pathogenic	Gaucher disease type II Condition: not provided Gaucher disease perinatal lethal Gaucher disease 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA221381	rs_121908305	5 SubmittersRCV000004562 RCV000180535 RCV001197976 RCV001248922 RCV002504743
NM_000157.4(GBA1):c.1141T>G (p.Cys381Gly)	SNV Germline	Chr1:155236328	Pathogenic	Gaucher disease type II	No Assertion Criteria Provided	CA253094	rs_121908306	1 SubmittersRCV000004563
NM_000157.4(GBA1):c.1208G>C (p.Ser403Thr)	SNV Germline	Chr1:155236261	Likely pathogenic	Gaucher disease type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253096	rs_121908307	3 SubmittersRCV000004564 RCV002281038
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp)	SNV Germline	Chr1:155239934	Pathogenic	Gaucher disease type I Gaucher disease Condition: not provided Lewy body dementia See cases 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA253098	rs_1141814	10 SubmittersRCV000004565 RCV000589792 RCV001507457 RCV002247245 RCV002251874 RCV002476927
NM_000157.4(GBA1):c.1174C>G (p.Arg392Gly)	SNV Germline	Chr1:155236295	Pathogenic	Gaucher disease type III	No Assertion Criteria Provided	CA253101	rs_121908308	1 SubmittersRCV000004567
NM_000157.4(GBA1):c.1319C>T (p.Pro440Leu)	SNV Germline	Chr1:155235750	Pathogenic	Gaucher disease type I	No Assertion Criteria Provided	CA253103	rs_74598136	1 SubmittersRCV000004568
NM_000157.4(GBA1):c.1049A>G (p.His350Arg)	SNV Germline	Chr1:155236420	Likely pathogenic	Gaucher disease perinatal lethal Condition: not provided	Criteria Provided Single Submitter	CA253105	rs_78198234	2 SubmittersRCV000004569 RCV001781180
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter)	SNV Germline	Chr1:155236277	Pathogenic	Gaucher disease perinatal lethal Condition: not provided Gaucher disease Gaucher disease type I 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA221386	rs_121908309	7 SubmittersRCV000004570 RCV000585360 RCV000780288 RCV001249081 RCV002490309
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)	SNV Germline	Chr1:155235823	Pathogenic/Likely pathogenic	Gaucher disease type III Gaucher disease type I Gaucher disease Condition: not provided Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type I Gaucher disease type II Gaucher disease type III Abnormal bleeding Thrombocytopenia 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA253107	rs_121908311	13 SubmittersRCV000004572 RCV000004571 RCV000055772 RCV000723428 RCV001004116 RCV001270486 RCV002482828
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)	SNV Germline	Chr1:155237453	Pathogenic	Gaucher disease perinatal lethal Gaucher disease Condition: not provided 7 conditions Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Parkinson disease, late-onset Gaucher disease type I GBA1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA221417	rs_78973108	15 SubmittersRCV000004573 RCV000020159 RCV000079357 RCV000762855 RCV001004125 RCV001836699 RCV003225017 RCV004554584
NM_000157.4(GBA1):c.509G>T (p.Arg170Leu)	SNV Germline	Chr1:155238596	Likely pathogenic	Gaucher disease perinatal lethal Gaucher disease	Criteria Provided Single Submitter	CA253112	rs_80356763	3 SubmittersRCV000004574 RCV000020155
NM_000157.4(GBA1):c.354G>C (p.Lys118Asn)	SNV Germline	Chr1:155239716	Pathogenic/Likely pathogenic	Gaucher disease type III Gaucher disease type I Condition: not provided Gaucher disease	Criteria Provided Multiple Submitters No Conflicts	CA221396	rs_121908312	4 SubmittersRCV000004576 RCV000004575 RCV000790694 RCV002281694
NM_000157.4(GBA1):c.870C>A (p.Phe290Leu)	SNV Germline	Chr1:155237470	Pathogenic	Gaucher disease perinatal lethal	No Assertion Criteria Provided	CA253114	rs_121908313	1 SubmittersRCV000004577
NM_000157.4(GBA1):c.1228C>G (p.Leu410Val)	SNV Germline	Chr1:155235841	Pathogenic	Gaucher disease type I	No Assertion Criteria Provided	CA253116	rs_121908314	1 SubmittersRCV000004578
NM_000157.4(GBA1):c.1506-1G>A	SNV Germline	Chr1:155235101	Pathogenic	Gaucher disease perinatal lethal	No Assertion Criteria Provided		rs_1571964338	1 SubmittersRCV000004579
NM_000157.4(GBA1):c.882T>G (p.His294Gln)	SNV Germline	Chr1:155237458	Conflicting classifications of pathogenicity; other	Condition: not provided Gaucher disease type I Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type II Gaucher disease type III Gaucher disease Gaucher disease type I Gaucher disease perinatal lethal not specified	Criteria Provided Conflicting Classifications	CA028590	rs_367968666	16 SubmittersRCV000589369 RCV001004126 RCV001248861 RCV001329068 RCV001195955 RCV002247685
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn)	SNV Germline	Chr1:155235256	Conflicting classifications of pathogenicity	Parkinson disease, late-onset not specified Condition: not provided Gaucher disease 7 conditions	Criteria Provided Conflicting Classifications	CA253118	rs_75671029	7 SubmittersRCV000004582 RCV001174737 RCV001582465 RCV001826414 RCV002490310
NM_002778.4(PSAP):c.1145G>T (p.Cys382Phe)	SNV Germline	Chr10:71819761	Pathogenic	Gaucher disease due to saposin C deficiency	No Assertion Criteria Provided	CA123059	rs_121918105	1 SubmittersRCV000014292
NM_002778.4(PSAP):c.1A>T (p.Met1Leu)	SNV Germline	Chr10:71851221	Pathogenic	Gaucher disease due to saposin C deficiency Combined PSAP deficiency Sphingolipid activator protein 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA123061	rs_121918106	3 SubmittersRCV000014294 RCV000014293 RCV001857349
NM_002778.4(PSAP):c.1144T>G (p.Cys382Gly)	SNV Germline	Chr10:71819762	Pathogenic	Gaucher disease due to saposin C deficiency	No Assertion Criteria Provided	CA123065	rs_121918108	1 SubmittersRCV000014299
NM_002778.4(PSAP):c.1288C>T (p.Gln430Ter)	SNV Germline	Chr10:71819527	Pathogenic	Gaucher disease due to saposin C deficiency	No Assertion Criteria Provided	CA123067	rs_121918109	1 SubmittersRCV000014300
NM_002778.4(PSAP):c.1046T>C (p.Leu349Pro)	SNV Germline	Chr10:71819860	Likely pathogenic	Gaucher disease due to saposin C deficiency Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA123069	rs_121918110	2 SubmittersRCV000014301 RCV003317034
NM_000157.4(GBA1):c.1505G>A (p.Arg502His)	SNV Germline	Chr1:155235195	Pathogenic/Likely pathogenic	Gaucher disease Gaucher disease type I Condition: not provided Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type I Gaucher disease type II	Criteria Provided Multiple Submitters No Conflicts	CA341578	rs_80356772	9 SubmittersRCV000020152 RCV000409564 RCV000824058 RCV001004109
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)	SNV Germline	Chr1:155238192	Pathogenic/Likely pathogenic	Gaucher disease Gaucher disease perinatal lethal Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Condition: not provided not specified 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA341581	rs_1064644	9 SubmittersRCV000020157 RCV000625849 RCV001004129 RCV003237414 RCV004018648 RCV002504814
NM_000157.4(GBA1):c.475C>T (p.Arg159Trp)	SNV Germline	Chr1:155238630	Pathogenic	Gaucher disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA221398	rs_439898	9 SubmittersRCV000055774 RCV000179355
NM_000157.4(GBA1):c.1060G>C (p.Asp354His)	SNV Germline	Chr1:155236409	Conflicting classifications of pathogenicity	Condition: not provided Gaucher disease not specified	Criteria Provided Conflicting Classifications	CA221379	rs_398123526	4 SubmittersRCV000180536 RCV001248921 RCV000781410
NM_000157.4(GBA1):c.115+1G>A	SNV Germline	Chr1:155240629	Pathogenic/Likely pathogenic	Gaucher disease type II Gaucher disease Gaucher disease type I 7 conditions Gaucher disease type II Gaucher disease type III Gaucher disease type I Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Parkinson disease, late-onset Condition: not provided not specified	Criteria Provided Multiple Submitters No Conflicts	CA221383	rs_104886460	17 SubmittersRCV000004546 RCV000032094 RCV000177098 RCV000762856 RCV001004137 RCV001253701 RCV000790724 RCV004019534
NM_000157.4(GBA1):c.1171G>C (p.Val391Leu)	SNV Germline	Chr1:155236298	Pathogenic/Likely pathogenic	Condition: not provided Gaucher disease type II Gaucher disease type III Gaucher disease type I Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease	Criteria Provided Multiple Submitters No Conflicts	CA221384	rs_398123527	4 SubmittersRCV000180534 RCV001004119 RCV000781412
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)	SNV Germline	Chr1:155236246	Conflicting classifications of pathogenicity	Condition: not provided not specified Parkinson disease, late-onset Gaucher disease perinatal lethal Gaucher disease	Criteria Provided Conflicting Classifications	CA221388	rs_75548401	16 SubmittersRCV000079335 RCV000244995 RCV000416597 RCV001196545 RCV001249086
NM_000157.4(GBA1):c.1240G>T (p.Val414Leu)	SNV Germline	Chr1:155235829	Pathogenic/Likely pathogenic	Condition: not provided Gaucher disease type I Gaucher disease	Criteria Provided Multiple Submitters No Conflicts	CA221390	rs_398123528	4 SubmittersRCV000173717 RCV001249087 RCV001174722
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)	SNV Germline	Chr1:155235252	Pathogenic/Likely pathogenic	Condition: not provided Gaucher disease type II Gaucher disease Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type I Gaucher disease type III GBA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA16040607	rs_421016	9 SubmittersRCV000414719 RCV000663363 RCV000781411 RCV001004111 RCV001248963 RCV001808310 RCV003335096
NM_000157.4(GBA1):c.508C>T (p.Arg170Cys)	SNV Germline	Chr1:155238597	Pathogenic	Condition: not provided Gaucher disease type II Gaucher disease type III Gaucher disease type I Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease	Criteria Provided Multiple Submitters No Conflicts	CA221401	rs_398123530	5 SubmittersRCV000179353 RCV001004135 RCV001249029
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys)	SNV Germline	Chr1:155238270	Pathogenic/Likely pathogenic	Condition: not provided Gaucher disease Gaucher disease type II Gaucher disease type III Gaucher disease type I Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	Criteria Provided Multiple Submitters No Conflicts	CA221403	rs_398123532	7 SubmittersRCV000179793 RCV000780284 RCV001004133
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg)	SNV Germline	Chr1:155238228	Conflicting classifications of pathogenicity	Condition: not provided Gaucher disease type II Gaucher disease type III Gaucher disease type I Gaucher disease not specified	Criteria Provided Conflicting Classifications	CA221407	rs_61748906	8 SubmittersRCV000079351 RCV000243066 RCV000588402 RCV004019535
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys)	SNV Germline	Chr1:155238214	Pathogenic/Likely pathogenic	Condition: not provided Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease	Criteria Provided Multiple Submitters No Conflicts	CA221409	rs_381418	5 SubmittersRCV000079353 RCV001004130 RCV001249030
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)	SNV Germline	Chr1:155238174	Pathogenic/Likely pathogenic	Gaucher disease Gaucher disease type II Gaucher disease type III Gaucher disease type I Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Parkinson disease, late-onset Gaucher disease type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA221411	rs_409652	12 SubmittersRCV000589250 RCV001004128 RCV002468565 RCV003448261 RCV000675275
NM_000157.4(GBA1):c.431T>G (p.Leu144Arg)	SNV Germline	Chr1:155239639	Conflicting classifications of pathogenicity	Condition: not provided Gaucher disease	Criteria Provided Conflicting Classifications	CA275304	rs_794727708	2 SubmittersRCV000178813 RCV001249026
NM_000157.4(GBA1):c.437C>T (p.Ser146Leu)	SNV Germline	Chr1:155239633	Conflicting classifications of pathogenicity	Condition: not provided Gaucher disease Gaucher disease type I not specified	Criteria Provided Conflicting Classifications	CA245985	rs_758447515	5 SubmittersRCV000178814 RCV001249027 RCV001808455 RCV004020131
NM_000157.4(GBA1):c.485T>C (p.Met162Thr)	SNV Germline	Chr1:155238620	Conflicting classifications of pathogenicity	Condition: not provided Gaucher disease	Criteria Provided Conflicting Classifications	CA246603	rs_794727783	2 SubmittersRCV000179352 RCV003323429
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr)	SNV Germline	Chr1:155237444	Likely pathogenic	Condition: not provided Gaucher disease 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA275428	rs_794727908	4 SubmittersRCV000180196 RCV001248862 RCV002500517
NM_000157.4(GBA1):c.474C>T (p.Ile158=)	SNV Germline	Chr1:155238631	Conflicting classifications of pathogenicity	Gaucher disease Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA358332	rs_147411159	5 SubmittersRCV000210895 RCV001580471 RCV002271465
NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys)	SNV Germline	Chr1:155235003	Pathogenic	Gaucher disease type I Gaucher disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1141476	rs_747506979	6 SubmittersRCV000417294 RCV001175549 RCV001782727
NM_000157.4(GBA1):c.1459G>A (p.Ala487Thr)	SNV Germline	Chr1:155235241	Likely pathogenic	Gaucher disease type I	No Assertion Criteria Provided	CA10581616	rs_878853317	1 SubmittersRCV000225643
NM_000157.4(GBA1):c.1397T>G (p.Ile466Ser)	SNV Germline	Chr1:155235303	Likely pathogenic	Gaucher disease type I	No Assertion Criteria Provided	CA10581617	rs_878853320	1 SubmittersRCV000225638
NM_000157.4(GBA1):c.1177C>G (p.Leu393Val)	SNV Germline	Chr1:155236292	Likely pathogenic	Gaucher disease type I	No Assertion Criteria Provided	CA10581618	rs_878853315	1 SubmittersRCV000225396
NM_000157.4(GBA1):c.866G>C (p.Gly289Ala)	SNV Germline	Chr1:155237474	Likely pathogenic	Gaucher disease type I	No Assertion Criteria Provided	CA10581619	rs_878853321	1 SubmittersRCV000225413
NM_000157.4(GBA1):c.415G>C (p.Ala139Pro)	SNV Germline	Chr1:155239655	Likely pathogenic	Gaucher disease type I	No Assertion Criteria Provided	CA10581620	rs_878853314	1 SubmittersRCV000225581
NM_002778.4(PSAP):c.-28A>C	SNV Germline	Chr10:71851249	Conflicting classifications of pathogenicity	not specified Gaucher disease due to saposin C deficiency Krabbe disease due to saposin A deficiency Combined PSAP deficiency Sphingolipid activator protein 1 deficiency	Criteria Provided Conflicting Classifications	CA5547957	rs_375720661	2 SubmittersRCV000245942 RCV000265215 RCV000266404 RCV000320357 RCV000360960
NM_000157.4(GBA1):c.521A>G (p.Tyr174Cys)	SNV Germline	Chr1:155238584	Conflicting classifications of pathogenicity	Condition: not provided Gaucher disease	Criteria Provided Conflicting Classifications	CA1141727	rs_781152868	2 SubmittersRCV000321615 RCV001249028
NM_000157.4(GBA1):c.637C>T (p.Leu213Phe)	SNV Germline	Chr1:155238258	Conflicting classifications of pathogenicity	Condition: not provided Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type I Gaucher disease	Criteria Provided Conflicting Classifications	CA1141709	rs_374591570	3 SubmittersRCV000275601 RCV001004132 RCV002290968 RCV003329161
NM_002778.4(PSAP):c.*122C>G	SNV Germline	Chr10:71817319	Conflicting classifications of pathogenicity	Combined PSAP deficiency Sphingolipid activator protein 1 deficiency Gaucher disease due to saposin C deficiency Krabbe disease due to saposin A deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA10628841	rs_113284884	2 SubmittersRCV000267855 RCV000298428 RCV000360087 RCV000390908 RCV001556327
NM_002778.4(PSAP):c.1476T>C (p.Thr492=)	SNV Germline	Chr10:71818680	Conflicting classifications of pathogenicity	Krabbe disease due to saposin A deficiency Combined PSAP deficiency Gaucher disease due to saposin C deficiency Sphingolipid activator protein 1 deficiency	Criteria Provided Conflicting Classifications	CA5547327	rs_139178900	2 SubmittersRCV000287337 RCV000336521 RCV000340063 RCV000904670
NM_002778.4(PSAP):c.1432-4A>G	SNV Germline	Chr10:71818728	Conflicting classifications of pathogenicity	Sphingolipid activator protein 1 deficiency Krabbe disease due to saposin A deficiency Combined PSAP deficiency Gaucher disease due to saposin C deficiency	Criteria Provided Conflicting Classifications	CA5547334	rs_775086571	2 SubmittersRCV000261764 RCV000319311 RCV000368118 RCV000371699
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met)	SNV Germline	Chr10:71819734	Conflicting classifications of pathogenicity	Combined PSAP deficiency Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency Sphingolipid activator protein 1 deficiency Condition: not provided Metachromatic leukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5547470	rs_202125074	6 SubmittersRCV000349589 RCV000350842 RCV000389048 RCV001044241 RCV002262951 RCV001833438 RCV002520627
NM_002778.4(PSAP):c.1056C>T (p.Ser352=)	SNV Germline	Chr10:71819850	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Combined PSAP deficiency Galactosylceramide beta-galactosidase deficiency Atypical Gaucher Disease Sphingolipid activator protein 1 deficiency Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency	Criteria Provided Conflicting Classifications	CA5547494	rs_138328594	2 SubmittersRCV000264576 RCV000303307 RCV000304947 RCV000361976 RCV000973449 RCV001103918 RCV001103919
NM_002778.4(PSAP):c.174+9C>T	SNV Germline	Chr10:71834363	Conflicting classifications of pathogenicity	Gaucher disease due to saposin C deficiency Krabbe disease due to saposin A deficiency Combined PSAP deficiency Sphingolipid activator protein 1 deficiency	Criteria Provided Conflicting Classifications	CA5547878	rs_141133813	2 SubmittersRCV000307686 RCV000362343 RCV000361163 RCV000895393
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser)	SNV Germline	Chr10:71834458	Conflicting classifications of pathogenicity	Combined PSAP deficiency Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency Sphingolipid activator protein 1 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA5547906	rs_144942998	3 SubmittersRCV000304205 RCV000345088 RCV000393668 RCV000972285 RCV001552293
NM_002778.4(PSAP):c.41-13G>C	SNV Germline	Chr10:71834518	Conflicting classifications of pathogenicity	Sphingolipid activator protein 1 deficiency Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency Combined PSAP deficiency	Criteria Provided Conflicting Classifications	CA5547926	rs_138010978	2 SubmittersRCV000263028 RCV000275892 RCV000316930 RCV000371674
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr)	SNV Germline	Chr10:71818700	Conflicting classifications of pathogenicity	Sphingolipid activator protein 1 deficiency Gaucher disease due to saposin C deficiency Combined PSAP deficiency Krabbe disease due to saposin A deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5547329	rs_749660716	3 SubmittersRCV000309664 RCV000407182 RCV000366675 RCV000402799 RCV002520626
NM_002778.4(PSAP):c.1000A>T (p.Thr334Ser)	SNV Germline	Chr10:71820245	Conflicting classifications of pathogenicity	Krabbe disease due to saposin A deficiency Sphingolipid activator protein 1 deficiency Combined PSAP deficiency Gaucher disease due to saposin C deficiency	Criteria Provided Conflicting Classifications	CA5547544	rs_749663645	2 SubmittersRCV000276629 RCV000294309 RCV000333973 RCV000386288
NM_002778.4(PSAP):c.577-10T>C	SNV Germline	Chr10:71828167	Conflicting classifications of pathogenicity	Combined PSAP deficiency Gaucher disease due to saposin C deficiency Krabbe disease due to saposin A deficiency Sphingolipid activator protein 1 deficiency	Criteria Provided Conflicting Classifications	CA5547724	rs_185892516	2 SubmittersRCV000259735 RCV000284433 RCV000319640 RCV000898101
NM_002778.4(PSAP):c.227T>A (p.Met76Lys)	SNV Germline	Chr10:71831868	Conflicting classifications of pathogenicity	Sphingolipid activator protein 1 deficiency Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency Combined PSAP deficiency	Criteria Provided Conflicting Classifications	CA5547842	rs_377024801	2 SubmittersRCV000294452 RCV000329512 RCV000349338 RCV000384126
NM_002778.4(PSAP):c.1278C>T (p.Asn426=)	SNV Germline	Chr10:71819537	Conflicting classifications of pathogenicity	Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency Combined PSAP deficiency Sphingolipid activator protein 1 deficiency Metachromatic leukodystrophy not specified	Criteria Provided Conflicting Classifications	CA5547413	rs_777227555	4 SubmittersRCV000259660 RCV000299749 RCV000356874 RCV000932186 RCV001272671 RCV003330636
NM_002778.4(PSAP):c.1088C>T (p.Thr363Met)	SNV Germline	Chr10:71819818	Conflicting classifications of pathogenicity	Gaucher disease due to saposin C deficiency Combined PSAP deficiency Krabbe disease due to saposin A deficiency Sphingolipid activator protein 1 deficiency Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA5547484	rs_140066253	4 SubmittersRCV000301263 RCV000335258 RCV000390963 RCV000390949 RCV001356155 RCV001828310
NM_002778.4(PSAP):c.1012A>G (p.Ile338Val)	SNV Germline	Chr10:71819894	Conflicting classifications of pathogenicity	Krabbe disease due to saposin A deficiency Combined PSAP deficiency Sphingolipid activator protein 1 deficiency Gaucher disease due to saposin C deficiency	Criteria Provided Conflicting Classifications	CA5547512	rs_544300820	1 SubmittersRCV000273320 RCV000325945 RCV000365539 RCV000382922
NM_002778.4(PSAP):c.798G>A (p.Ala266=)	SNV Germline	Chr10:71821987	Conflicting classifications of pathogenicity	Krabbe disease due to saposin A deficiency Combined PSAP deficiency Gaucher disease due to saposin C deficiency Sphingolipid activator protein 1 deficiency Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA5547598	rs_199672678	3 SubmittersRCV000270227 RCV000310085 RCV000313643 RCV000362418 RCV001833439
NM_002778.4(PSAP):c.189C>T (p.Cys63=)	SNV Germline	Chr10:71831906	Conflicting classifications of pathogenicity	Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency Combined PSAP deficiency Sphingolipid activator protein 1 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA5547853	rs_111369573	4 SubmittersRCV000301590 RCV000300495 RCV000355292 RCV000971779 RCV001672431
NM_002778.4(PSAP):c.*9A>G	SNV Germline	Chr10:71817432	Conflicting classifications of pathogenicity	Krabbe disease due to saposin A deficiency Combined PSAP deficiency Gaucher disease due to saposin C deficiency Sphingolipid activator protein 1 deficiency	Criteria Provided Conflicting Classifications	CA5547287	rs_376628499	1 SubmittersRCV000279004 RCV000294266 RCV000318911 RCV000375756
NM_002778.4(PSAP):c.1261C>T (p.Arg421Cys)	SNV Germline	Chr10:71819554	Conflicting classifications of pathogenicity	Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency Combined PSAP deficiency Sphingolipid activator protein 1 deficiency	Criteria Provided Conflicting Classifications	CA5547418	rs_529719024	2 SubmittersRCV000267782 RCV000320675 RCV000360171 RCV000377595
NM_002778.4(PSAP):c.714C>G (p.Ala238=)	SNV Germline	Chr10:71828020	Conflicting classifications of pathogenicity	Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency Combined PSAP deficiency Sphingolipid activator protein 1 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA5547688	rs_141199649	3 SubmittersRCV000332576 RCV000354645 RCV000370671 RCV000902915 RCV003417974
NM_002778.4(PSAP):c.557G>A (p.Arg186His)	SNV Germline	Chr10:71828896	Conflicting classifications of pathogenicity	Combined PSAP deficiency Sphingolipid activator protein 1 deficiency Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency	Criteria Provided Conflicting Classifications	CA5547747	rs_138880818	2 SubmittersRCV000291043 RCV000345936 RCV000391944 RCV000401145
NM_002778.4(PSAP):c.250-12G>A	SNV Germline	Chr10:71831263	Conflicting classifications of pathogenicity	Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency Sphingolipid activator protein 1 deficiency Combined PSAP deficiency	Criteria Provided Conflicting Classifications	CA10636149	rs_886047152	2 SubmittersRCV000268193 RCV000288083 RCV000323233 RCV000382490
NM_002778.4(PSAP):c.167C>G (p.Pro56Arg)	SNV Germline	Chr10:71834379	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Atypical Gaucher Disease Combined PSAP deficiency Metachromatic leukodystrophy Sphingolipid activator protein 1 deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5547881	rs_571773332	3 SubmittersRCV000274090 RCV000272506 RCV000327586 RCV000386828 RCV002522167 RCV004021479
NM_002778.4(PSAP):c.112A>T (p.Thr38Ser)	SNV Germline	Chr10:71834434	Conflicting classifications of pathogenicity	Krabbe disease due to saposin A deficiency Sphingolipid activator protein 1 deficiency Combined PSAP deficiency Gaucher disease due to saposin C deficiency	Criteria Provided Conflicting Classifications	CA5547902	rs_535525554	2 SubmittersRCV000279820 RCV000333853 RCV000334914 RCV000388278
NM_002778.4(PSAP):c.40+12G>A	SNV Germline	Chr10:71851170	Conflicting classifications of pathogenicity	Krabbe disease due to saposin A deficiency Combined PSAP deficiency Sphingolipid activator protein 1 deficiency Gaucher disease due to saposin C deficiency	Criteria Provided Conflicting Classifications	CA10636150	rs_886047153	2 SubmittersRCV000283508 RCV000318811 RCV000343158 RCV000378161
NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys)	SNV Germline	Chr1:155236367	Conflicting classifications of pathogenicity	Condition: not provided Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome not specified Gaucher disease GBA1-related disorder	Criteria Provided Conflicting Classifications	CA1141619	rs_374306700	5 SubmittersRCV000487271 RCV001004120 RCV001584196 RCV001249080 RCV003419796
NM_002778.4(PSAP):c.1369G>T (p.Glu457Ter)	SNV Germline	Chr10:71819093	Pathogenic	Gaucher disease due to saposin C deficiency Combined PSAP deficiency Sphingolipid activator protein 1 deficiency Krabbe disease due to saposin A deficiency	No Assertion Criteria Provided	CA377142142	rs_1554879741	1 SubmittersRCV000505561
NM_000157.4(GBA1):c.526G>A (p.Asp176Asn)	SNV Germline	Chr1:155238579	Pathogenic	Gaucher disease type I	No Assertion Criteria Provided	CA342724232	rs_1553217946	1 SubmittersRCV000515467
NM_000157.4(GBA1):c.1296G>A (p.Trp432Ter)	SNV Germline	Chr1:155235773	Conflicting classifications of pathogenicity	Condition: not provided Gaucher disease	Criteria Provided Conflicting Classifications	CA342713418	rs_1484043383	2 SubmittersRCV000585394 RCV001249088
NM_000157.4(GBA1):c.1312G>A (p.Asp438Asn)	SNV Germline	Chr1:155235757	Pathogenic	Gaucher disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342713229	rs_1553217009	3 SubmittersRCV000589122 RCV001212081
NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser)	SNV Germline	Chr1:155236417	Likely pathogenic	Gaucher disease 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA342717600	rs_1553217294	3 SubmittersRCV000587644 RCV002497235
NM_000157.4(GBA1):c.1224G>A (p.Thr408=)	SNV Germline	Chr1:155236245	Conflicting classifications of pathogenicity	Condition: not provided Gaucher disease type I Gaucher disease type II Gaucher disease 7 conditions	Criteria Provided Conflicting Classifications	CA1141598	rs_138498426	6 SubmittersRCV000599326 RCV000986425 RCV001563762 RCV001834913 RCV002498876
NM_000157.4(GBA1):c.1279G>T (p.Glu427Ter)	SNV Germline	Chr1:155235790	Likely pathogenic	Gaucher disease	Criteria Provided Single Submitter	CA342713575	rs_149171124	1 SubmittersRCV000607009
NM_000157.4(GBA1):c.886C>T (p.Arg296Ter)	SNV Germline	Chr1:155237454	Pathogenic	Condition: not provided Gaucher disease	Criteria Provided Single Submitter		rs_1553217626	3 SubmittersRCV000675274 RCV001193933
NM_000157.4(GBA1):c.1271T>C (p.Leu424Pro)	SNV Germline	Chr1:155235798	Likely pathogenic	Gaucher disease type I	Criteria Provided Single Submitter		rs_772548282	1 SubmittersRCV000761282
NM_000157.4(GBA1):c.1357C>T (p.Gln453Ter)	SNV Germline	Chr1:155235712	Pathogenic	Gaucher disease	Criteria Provided Single Submitter		rs_1557901325	1 SubmittersRCV000781414
NM_000157.4(GBA1):c.1250G>A (p.Trp417Ter)	SNV Germline	Chr1:155235819	Likely pathogenic	Gaucher disease	Criteria Provided Single Submitter		rs_754743440	2 SubmittersRCV000780283
NM_000157.4(GBA1):c.709A>G (p.Lys237Glu)	SNV Germline	Chr1:155238186	Pathogenic/Likely pathogenic	Gaucher disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_773409311	3 SubmittersRCV000781408 RCV003144585
NM_000157.4(GBA1):c.653G>A (p.Trp218Ter)	SNV Germline	Chr1:155238242	Pathogenic	Gaucher disease Thrombocytopenia Abnormal bleeding Parkinson disease, late-onset Gaucher disease type I	Criteria Provided Multiple Submitters No Conflicts		rs_867929413	5 SubmittersRCV000780286 RCV001270597 RCV001836879 RCV002509533
NM_000157.4(GBA1):c.497A>T (p.Asp166Val)	SNV Germline	Chr1:155238608	Likely pathogenic	Gaucher disease	Criteria Provided Single Submitter		rs_79796061	1 SubmittersRCV000780285
NM_000157.4(GBA1):c.762-1G>C	SNV Germline	Chr1:155237579	Pathogenic/Likely pathogenic	Gaucher disease Parkinson disease, late-onset 7 conditions	Criteria Provided Multiple Submitters No Conflicts		rs_1237637353	4 SubmittersRCV000781413 RCV000995774 RCV002487610
NM_000157.4(GBA1):c.1495G>C (p.Val499Leu)	SNV Germline	Chr1:155235205	Conflicting classifications of pathogenicity	Gaucher disease type I Condition: not provided	Criteria Provided Conflicting Classifications		rs_369068553	4 SubmittersRCV000785070 RCV001759479
NM_000157.4(GBA1):c.999+242C>A	SNV Germline	Chr1:155237099	Pathogenic	Gaucher disease type I	Criteria Provided Single Submitter		rs_1571969643	1 SubmittersRCV000999462
NM_000157.4(GBA1):c.1503C>G (p.Asn501Lys)	SNV Germline	Chr1:155235197	Likely pathogenic	Gaucher disease type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_755265316	2 SubmittersRCV000853241 RCV001784467
NM_002778.4(PSAP):c.1146C>T (p.Cys382=)	SNV Germline	Chr10:71819760	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Sphingolipid activator protein 1 deficiency Combined PSAP deficiency Gaucher disease due to saposin C deficiency Krabbe disease due to saposin A deficiency	Criteria Provided Conflicting Classifications		rs_573095617	3 SubmittersRCV001272673 RCV000943827 RCV001107536 RCV001107537 RCV001107538
NM_000157.4(GBA1):c.168C>T (p.Val56=)	SNV Germline	Chr1:155240025	Conflicting classifications of pathogenicity	Condition: not provided Gaucher disease type I	Criteria Provided Conflicting Classifications		rs_145773486	2 SubmittersRCV000994120 RCV001563831
NM_000157.4(GBA1):c.1388+2T>C	SNV Unknown	Chr1:155235679	Likely pathogenic	Gaucher disease type I	No Assertion Criteria Provided		rs_1571965880	1 SubmittersRCV002290982
NM_000157.4(GBA1):c.1174C>T (p.Arg392Trp)	SNV Germline	Chr1:155236295	Pathogenic	Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	Criteria Provided Single Submitter		rs_121908308	1 SubmittersRCV001004118
NM_000157.4(GBA1):c.970C>T (p.Arg324Cys)	SNV Germline	Chr1:155237370	Conflicting classifications of pathogenicity	Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_765633380	3 SubmittersRCV001004121 RCV001797810 RCV003132137
NM_000157.4(GBA1):c.946C>T (p.Arg316Cys)	SNV Germline	Chr1:155237394	Conflicting classifications of pathogenicity	Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Parkinson disease, late-onset not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_1264734195	4 SubmittersRCV001004122 RCV001836930 RCV001805970 RCV001759683
NM_000157.4(GBA1):c.929G>A (p.Ser310Asn)	SNV Germline	Chr1:155237411	Conflicting classifications of pathogenicity	Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_74731340	2 SubmittersRCV001004123 RCV003132138
NM_000157.4(GBA1):c.913C>G (p.Pro305Ala)	SNV Germline	Chr1:155237427	Conflicting classifications of pathogenicity	Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_770796008	2 SubmittersRCV001004124 RCV003132139
NM_000157.4(GBA1):c.509G>A (p.Arg170His)	SNV Germline	Chr1:155238596	Conflicting classifications of pathogenicity	Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome not specified	Criteria Provided Conflicting Classifications		rs_80356763	2 SubmittersRCV001004134 RCV002282424
NM_002778.4(PSAP):c.*737G>A	SNV Germline	Chr10:71816704	Conflicting classifications of pathogenicity	Combined PSAP deficiency Sphingolipid activator protein 1 deficiency Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency	Criteria Provided Conflicting Classifications		rs_147046509	1 SubmittersRCV001106602 RCV001106603 RCV001108767 RCV001108768
NM_002778.4(PSAP):c.*376A>G	SNV Germline	Chr10:71817065	Conflicting classifications of pathogenicity	Krabbe disease due to saposin A deficiency Combined PSAP deficiency Gaucher disease due to saposin C deficiency Sphingolipid activator protein 1 deficiency	Criteria Provided Conflicting Classifications		rs_141906397	1 SubmittersRCV001103619 RCV001103620 RCV001105559 RCV001105558
NM_002778.4(PSAP):c.1197C>T (p.His399=)	SNV Germline	Chr10:71819618	Conflicting classifications of pathogenicity	Sphingolipid activator protein 1 deficiency Combined PSAP deficiency Gaucher disease due to saposin C deficiency Krabbe disease due to saposin A deficiency	Criteria Provided Conflicting Classifications		rs_748761213	2 SubmittersRCV001106864 RCV001106865 RCV001106866 RCV001106867
NM_002778.4(PSAP):c.565C>T (p.Pro189Ser)	SNV Germline	Chr10:71828888	Conflicting classifications of pathogenicity	Combined PSAP deficiency Gaucher disease due to saposin C deficiency Sphingolipid activator protein 1 deficiency Krabbe disease due to saposin A deficiency not specified	Criteria Provided Conflicting Classifications		rs_188854022	2 SubmittersRCV001104312 RCV001104309 RCV001104310 RCV001104311 RCV003235470
NM_002778.4(PSAP):c.423C>T (p.Leu141=)	SNV Germline	Chr10:71829030	Conflicting classifications of pathogenicity	Krabbe disease due to saposin A deficiency Combined PSAP deficiency Gaucher disease due to saposin C deficiency Sphingolipid activator protein 1 deficiency	Criteria Provided Conflicting Classifications		rs_780891597	2 SubmittersRCV001107070 RCV001107069 RCV001107067 RCV001107068
NM_002778.4(PSAP):c.249+6C>T	SNV Germline	Chr10:71831840	Conflicting classifications of pathogenicity	Sphingolipid activator protein 1 deficiency Gaucher disease due to saposin C deficiency Krabbe disease due to saposin A deficiency Combined PSAP deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_774663731	3 SubmittersRCV001104399 RCV001104400 RCV001104401 RCV001104402 RCV002555021
NM_000157.4(GBA1):c.1599G>A (p.Trp533Ter)	SNV Germline	Chr1:155235007	Pathogenic	Gaucher disease type I Gaucher disease	Criteria Provided Single Submitter		rs_1671655923	2 SubmittersRCV001175136 RCV003317439
NM_000157.4(GBA1):c.1259G>A (p.Trp420Ter)	SNV Germline	Chr1:155235810	Pathogenic	Gaucher disease	Criteria Provided Single Submitter		rs_1671711470	1 SubmittersRCV001175548
NM_000157.4(GBA1):c.1184C>T (p.Ser395Phe)	SNV Germline	Chr1:155236285	Pathogenic	Gaucher disease Condition: not provided Gaucher disease type I not specified	Criteria Provided Multiple Submitters No Conflicts		rs_760307559	4 SubmittersRCV001175547 RCV001784667 RCV003479285 RCV004032984
NM_000157.4(GBA1):c.706C>T (p.Leu236Phe)	SNV Germline	Chr1:155238189	Conflicting classifications of pathogenicity	not specified Condition: not provided Gaucher disease	Criteria Provided Conflicting Classifications		rs_1671865905	3 SubmittersRCV001193937 RCV001751354 RCV001833750
NM_000157.4(GBA1):c.689T>G (p.Val230Gly)	SNV Germline	Chr1:155238206	Pathogenic	Gaucher disease	Criteria Provided Single Submitter		rs_381427	1 SubmittersRCV003226440
NM_000157.4(GBA1):c.1289C>T (p.Pro430Leu)	SNV Germline	Chr1:155235780	Pathogenic	Gaucher disease perinatal lethal Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_76910485	2 SubmittersRCV001198752 RCV001863130
NM_000157.4(GBA1):c.894C>A (p.Phe298Leu)	SNV Germline	Chr1:155237446	Likely pathogenic	Gaucher disease	Criteria Provided Single Submitter		rs_1671825414	2 SubmittersRCV001199909
NM_000157.4(GBA1):c.661C>A (p.Pro221Thr)	SNV Germline	Chr1:155238234	Pathogenic/Likely pathogenic	Gaucher disease 7 conditions	Criteria Provided Multiple Submitters No Conflicts		rs_866075757	2 SubmittersRCV001199857 RCV002497680
NM_000157.4(GBA1):c.1238A>C (p.His413Pro)	SNV Germline	Chr1:155235831	Likely pathogenic	Gaucher disease type I	No Assertion Criteria Provided		rs_911331923	1 SubmittersRCV001200044
NM_000157.4(GBA1):c.1214G>C (p.Ser405Thr)	SNV Germline	Chr1:155236255	Likely pathogenic	Gaucher disease type I	No Assertion Criteria Provided		rs_1392291885	1 SubmittersRCV001200045
NM_181882.3(PRX):c.231C>A (p.Tyr77Ter)	SNV Germline	Chr19:40398770	Pathogenic	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4F Gaucher disease PRX-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_752192677	3 SubmittersRCV001231331 RCV002305577 RCV004526818 RCV004579570
NM_000157.4(GBA1):c.108G>A (p.Trp36Ter)	SNV Germline	Chr1:155240637	Pathogenic	Gaucher disease	Criteria Provided Single Submitter		rs_777383151	2 SubmittersRCV001251352
NM_000157.4(GBA1):c.334C>T (p.Gln112Ter)	SNV Germline	Chr1:155239736	Pathogenic	Gaucher disease	Criteria Provided Single Submitter		rs_1671974195	1 SubmittersRCV001264492
NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala)	SNV Germline	Chr10:71819830	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy Gaucher disease due to saposin C deficiency Sphingolipid activator protein 1 deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_765744298	3 SubmittersRCV001280271 RCV001449850 RCV002541741
NM_000157.4(GBA1):c.635C>G (p.Ser212Ter)	SNV Germline	Chr1:155238260	Pathogenic	Gaucher disease Condition: not provided Parkinson disease, late-onset	Criteria Provided Multiple Submitters No Conflicts		rs_1671872221	5 SubmittersRCV001290586 RCV001566455 RCV001836981
NM_000157.4(GBA1):c.914C>T (p.Pro305Leu)	SNV Unknown	Chr1:155237426	Likely pathogenic	Gaucher disease type I	Criteria Provided Single Submitter		rs_79215220	1 SubmittersRCV001376104
NM_000157.4(GBA1):c.604C>T (p.Arg202Ter)	SNV Germline	Chr1:155238291	Pathogenic/Likely pathogenic	Parkinson disease, late-onset Gaucher disease Condition: not provided GBA1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1009850780	6 SubmittersRCV001837003 RCV001732184 RCV001780385 RCV003416342
NM_000157.4(GBA1):c.1255G>A (p.Asp419Asn)	SNV Unknown	Chr1:155235814	Likely pathogenic	Gaucher disease type I	Criteria Provided Single Submitter		rs_1671712475	1 SubmittersRCV001542262
NM_000157.4(GBA1):c.1249T>G (p.Trp417Gly)	SNV Germline	Chr1:155235820	Pathogenic/Likely pathogenic	Condition: not provided 7 conditions Gaucher disease	Criteria Provided Multiple Submitters No Conflicts		rs_1450426641	3 SubmittersRCV001583104 RCV002488413 RCV001827516
NM_000157.4(GBA1):c.256C>T (p.Arg86Ter)	SNV Germline	Chr1:155239937	Pathogenic	Gaucher disease	Criteria Provided Single Submitter		rs_1671987417	1 SubmittersRCV001779515
NM_002778.4(PSAP):c.1005+1G>A	SNV Germline	Chr10:71820239	Likely pathogenic	Gaucher disease due to saposin C deficiency Sphingolipid activator protein 1 deficiency	Criteria Provided Single Submitter		rs_113365744	2 SubmittersRCV001801340 RCV002541348
NM_000157.4(GBA1):c.492C>G (p.Ser164Arg)	SNV Germline	Chr1:155238613	Likely pathogenic	Gaucher disease type I Gaucher disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_746019841	3 SubmittersRCV001823570 RCV002282581 RCV003146246
NM_000157.4(GBA1):c.454+1G>A	SNV Germline	Chr1:155239615	Likely pathogenic	Gaucher disease	Criteria Provided Single Submitter		rs_539166948	1 SubmittersRCV002238585
NM_000157.4(GBA1):c.1505+2T>A	SNV Germline	Chr1:155235193	Likely pathogenic	Gaucher disease	Criteria Provided Single Submitter		rs_2148070287	1 SubmittersRCV002271843
NM_000157.4(GBA1):c.484A>G (p.Met162Val)	SNV Germline	Chr1:155238621	Conflicting classifications of pathogenicity	Gaucher disease type I Gaucher disease Condition: not provided	Criteria Provided Conflicting Classifications			3 SubmittersRCV002282765 RCV003230742 RCV003146532
NM_000157.4(GBA1):c.1214G>A (p.Ser405Asn)	SNV Germline	Chr1:155236255	Conflicting classifications of pathogenicity	Gaucher disease not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV003388120 RCV004066487
NM_000157.4(GBA1):c.44T>C (p.Leu15Ser)	SNV Germline	Chr1:155240701	Conflicting classifications of pathogenicity	not specified Gaucher disease type I	Criteria Provided Conflicting Classifications			2 SubmittersRCV004091313 RCV004560069
NM_000157.4(GBA1):c.1300C>T (p.Arg434Cys)	SNV Germline	Chr1:155235769	Likely pathogenic	Gaucher disease	Criteria Provided Single Submitter			1 SubmittersRCV003123406
NM_000157.4(GBA1):c.827C>T (p.Ser276Phe)	SNV Germline	Chr1:155237513	Conflicting classifications of pathogenicity	Condition: not provided Gaucher disease	Criteria Provided Conflicting Classifications			2 SubmittersRCV003135334 RCV004579610
NM_000157.4(GBA1):c.847T>C (p.Tyr283His)	SNV Germline	Chr1:155237493	Likely pathogenic	Gaucher disease	Criteria Provided Single Submitter			1 SubmittersRCV003226690
NM_000157.4(GBA1):c.260G>A (p.Arg87Gln)	SNV Germline	Chr1:155239933	Pathogenic/Likely pathogenic	Gaucher disease Gaucher disease type I	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003230935 RCV003988098
NM_000157.4(GBA1):c.1215C>A (p.Ser405Arg)	SNV Germline	Chr1:155236254	Likely pathogenic	Gaucher disease	Criteria Provided Single Submitter			1 SubmittersRCV003230936
NM_000157.4(GBA1):c.1054T>C (p.Tyr352His)	SNV Germline	Chr1:155236415	Pathogenic	Gaucher disease	Criteria Provided Single Submitter			1 SubmittersRCV003331578
NM_000157.4(GBA1):c.776A>G (p.Tyr259Cys)	SNV Germline	Chr1:155237564	Likely pathogenic	Gaucher disease	Criteria Provided Single Submitter			1 SubmittersRCV003331970
NM_000157.4(GBA1):c.538G>A (p.Asp180Asn)	SNV Germline	Chr1:155238567	Likely pathogenic	Gaucher disease type II	Criteria Provided Single Submitter			1 SubmittersRCV003448938
NM_000157.4(GBA1):c.1193G>A (p.Arg398Gln)	SNV Germline	Chr1:155236276	Pathogenic/Likely pathogenic	Gaucher disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003479907 RCV003482466

NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)

SNV
Germline

Chr1:155235252

Pathogenic; risk factor

Gaucher disease type II
Gaucher disease type I
Gaucher disease type III
Parkinson disease, late-onset
Dementia, Lewy body, susceptibility to
Gaucher disease
Movement disorder
Hypomimic face
Thoracolumbar scoliosis
Parkinsonian disorder
Resting tremor
Condition: not provided
Gaucher disease perinatal lethal
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
not specified
7 conditions
GBA1-related disorder
Lewy body dementia

Criteria Provided
Multiple Submitters
No Conflicts

CA116765

rs_421016

35 SubmittersRCV000004509 RCV000004511 RCV000004510 RCV000004512 RCV000004513 RCV000020150 RCV000626625 RCV000413257 RCV001197164 RCV001004112 RCV004018555 RCV002476924 RCV003398445 RCV003987311

NM_000157.4(GBA1):c.1361C>G (p.Pro454Arg)

SNV
Germline

Chr1:155235708

Pathogenic

Gaucher disease type II

No Assertion Criteria Provided

CA253055

rs_121908295

1 SubmittersRCV000004514

NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)

SNV
Germline

Chr1:155235843

Pathogenic/Likely pathogenic; risk factor

Dementia, Lewy body, susceptibility to
Gaucher disease type I
Parkinson disease, late-onset
Condition: not provided
Gaucher disease
Rigidity
Akinesia
7 conditions
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gaucher disease perinatal lethal
Parkinson disease
Abnormal bleeding
Thrombocytopenia
Lewy body dementia
GBA1-related disorder
not specified
Parkinson disease, late-onset
Lewy body dementia

Criteria Provided
Multiple Submitters
No Conflicts

CA116767

rs_76763715

41 SubmittersRCV000004517 RCV000004515 RCV000004516 RCV000079336 RCV000396221 RCV000414782 RCV000515439 RCV001004117 RCV001197918 RCV001195689 RCV001270528 RCV002247244 RCV003982824 RCV004018556 RCV004555830

NM_000157.4(GBA1):c.476G>A (p.Arg159Gln)

SNV
Germline

Chr1:155238629

Pathogenic/Likely pathogenic

Gaucher disease perinatal lethal
Gaucher disease type I
Gaucher disease
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253057

rs_79653797

7 SubmittersRCV000004519 RCV000004518 RCV000020154 RCV001250522 RCV001781178

NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)

SNV
Germline

Chr1:155235772

Pathogenic/Likely pathogenic

Gaucher disease type III
Gaucher disease type I
Gaucher disease
7 conditions
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Condition: not provided
Parkinson disease, late-onset

Criteria Provided
Multiple Submitters
No Conflicts

CA253059

rs_80356769

9 SubmittersRCV000004520 RCV000004521 RCV000020148 RCV000762854 RCV001004115 RCV001382044 RCV001836694

NM_000157.4(GBA1):c.1342G>C (p.Asp448His)

SNV
Germline

Chr1:155235727

Pathogenic/Likely pathogenic

Gaucher disease perinatal lethal
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease
Condition: not provided
7 conditions
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Parkinson disease, late-onset
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA221392

rs_1064651

22 SubmittersRCV000004526 RCV000004522 RCV000004523 RCV000004524 RCV000004525 RCV000055773 RCV000079338 RCV000762853 RCV001004114 RCV001836695 RCV004018557

NM_000157.4(GBA1):c.1343A>T (p.Asp448Val)

SNV
Germline

Chr1:155235726

Likely pathogenic

Gaucher disease type III
Gaucher disease
Gaucher disease type I

Criteria Provided
Single Submitter

CA253061

rs_77369218

3 SubmittersRCV000004527 RCV000020149 RCV000411499

NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)

SNV
Germline

Chr1:155235196

Pathogenic

Gaucher disease type II
Gaucher disease type I
Gaucher disease type III
Parkinson disease, late-onset
Condition: not provided
Gaucher disease
7 conditions
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA221394

rs_80356771

20 SubmittersRCV000004529 RCV000004528 RCV000004530 RCV000004531 RCV000079343 RCV000020151 RCV000762852 RCV001004110 RCV004018558

NM_000157.4(GBA1):c.254G>A (p.Gly85Glu)

SNV
Germline

Chr1:155239939

Pathogenic

Gaucher disease type I
Gaucher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA253063

rs_77829017

5 SubmittersRCV000004532 RCV000781409

NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)

SNV
Germline

Chr1:155237576

Pathogenic/Likely pathogenic

Gaucher disease type I
Condition: not provided
Gaucher disease
Parkinson disease, late-onset
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA253065

rs_74500255

12 SubmittersRCV000004537 RCV000498055 RCV001248860 RCV001705580 RCV001004127 RCV002476925

NM_000157.4(GBA1):c.586A>C (p.Lys196Gln)

SNV
Germline

Chr1:155238519

Conflicting classifications of pathogenicity

Gaucher disease type I
Condition: not provided

No Assertion Criteria Provided

CA253067

rs_121908297

4 SubmittersRCV000004539 RCV001572837

NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)

SNV
Germline

Chr1:155238141

Pathogenic/Likely pathogenic

Gaucher disease type III
Gaucher disease type II
Gaucher disease type I
Gaucher disease
Condition: not provided
7 conditions
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA221413

rs_381737

10 SubmittersRCV000004540 RCV000004541 RCV000004542 RCV000020158 RCV000790654 RCV002482827 RCV004018559

NM_000157.4(GBA1):c.1309G>T (p.Val437Phe)

SNV
Germline

Chr1:155235760

Pathogenic

Gaucher disease perinatal lethal

No Assertion Criteria Provided

CA253069

rs_121908310

1 SubmittersRCV000004544

NM_000157.4(GBA1):c.983C>T (p.Pro328Leu)

SNV
Germline

Chr1:155237357

Pathogenic

Gaucher disease type I

No Assertion Criteria Provided

CA253072

rs_121908298

1 SubmittersRCV000004547

NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile)

SNV
Germline

Chr1:155236384

Pathogenic/Likely pathogenic

Gaucher disease type I
Gaucher disease type II
Gaucher disease
7 conditions
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253074

rs_76539814

6 SubmittersRCV000004548 RCV000041967 RCV001193934 RCV002496255 RCV003137492

NM_000157.4(GBA1):c.481C>T (p.Pro161Ser)

SNV
Germline

Chr1:155238624

Pathogenic

Gaucher disease type I

No Assertion Criteria Provided

CA253077

rs_121908299

1 SubmittersRCV000004550

NM_000157.4(GBA1):c.1549G>A (p.Gly517Ser)

SNV
Germline

Chr1:155235057

Pathogenic

Gaucher disease type I
Condition: not provided

Criteria Provided
Single Submitter

CA253081

rs_121908301

2 SubmittersRCV000004552 RCV001171764

NM_000157.4(GBA1):c.1604G>A (p.Arg535His)

SNV
Germline

Chr1:155235002

Pathogenic/Likely pathogenic

Gaucher disease type I
Gaucher disease
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
7 conditions
Condition: not provided
Parkinson disease, late-onset
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA234081

rs_75822236

18 SubmittersRCV000004553 RCV000020153 RCV001004108 RCV000762851 RCV000790684 RCV001836698 RCV004018560

NM_000157.4(GBA1):c.160G>T (p.Val54Leu)

SNV
Germline

Chr1:155240033

Pathogenic

Gaucher disease type I

No Assertion Criteria Provided

CA253084

rs_121908302

2 SubmittersRCV000004556

NM_000157.4(GBA1):c.680A>G (p.Asn227Ser)

SNV
Germline

Chr1:155238215

Pathogenic

Gaucher disease type I
Gaucher disease type III
Gaucher disease
Condition: not provided
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA253086

rs_364897

11 SubmittersRCV000004557 RCV000004558 RCV000020156 RCV000723402 RCV001004131 RCV002504742

NM_000157.4(GBA1):c.763T>G (p.Phe255Val)

SNV
Germline

Chr1:155237577

Pathogenic

Gaucher disease type I

No Assertion Criteria Provided

CA253088

rs_121908303

1 SubmittersRCV000004559

NM_000157.4(GBA1):c.1043C>T (p.Ala348Val)

SNV
Germline

Chr1:155236426

Pathogenic

Gaucher disease type I

No Assertion Criteria Provided

CA253090

rs_78396650

1 SubmittersRCV000004560

NM_000157.4(GBA1):c.1053G>T (p.Trp351Cys)

SNV
Germline

Chr1:155236416

Pathogenic

Gaucher disease type I

No Assertion Criteria Provided

CA253092

rs_121908304

1 SubmittersRCV000004561

NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg)

SNV
Germline

Chr1:155236379

Likely pathogenic

Gaucher disease type II
Condition: not provided
Gaucher disease perinatal lethal
Gaucher disease
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA221381

rs_121908305

5 SubmittersRCV000004562 RCV000180535 RCV001197976 RCV001248922 RCV002504743

NM_000157.4(GBA1):c.1141T>G (p.Cys381Gly)

SNV
Germline

Chr1:155236328

Pathogenic

Gaucher disease type II

No Assertion Criteria Provided

CA253094

rs_121908306

1 SubmittersRCV000004563

NM_000157.4(GBA1):c.1208G>C (p.Ser403Thr)

SNV
Germline

Chr1:155236261

Likely pathogenic

Gaucher disease type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253096

rs_121908307

3 SubmittersRCV000004564 RCV002281038

NM_000157.4(GBA1):c.259C>T (p.Arg87Trp)

SNV
Germline

Chr1:155239934

Pathogenic

Gaucher disease type I
Gaucher disease
Condition: not provided
Lewy body dementia
See cases
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA253098

rs_1141814

10 SubmittersRCV000004565 RCV000589792 RCV001507457 RCV002247245 RCV002251874 RCV002476927

NM_000157.4(GBA1):c.1174C>G (p.Arg392Gly)

SNV
Germline

Chr1:155236295

Pathogenic

Gaucher disease type III

No Assertion Criteria Provided

CA253101

rs_121908308

1 SubmittersRCV000004567

NM_000157.4(GBA1):c.1319C>T (p.Pro440Leu)

SNV
Germline

Chr1:155235750

Pathogenic

Gaucher disease type I

No Assertion Criteria Provided

CA253103

rs_74598136

1 SubmittersRCV000004568

NM_000157.4(GBA1):c.1049A>G (p.His350Arg)

SNV
Germline

Chr1:155236420

Likely pathogenic

Gaucher disease perinatal lethal
Condition: not provided

Criteria Provided
Single Submitter

CA253105

rs_78198234

2 SubmittersRCV000004569 RCV001781180

NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter)

SNV
Germline

Chr1:155236277

Pathogenic

Gaucher disease perinatal lethal
Condition: not provided
Gaucher disease
Gaucher disease type I
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA221386

rs_121908309

7 SubmittersRCV000004570 RCV000585360 RCV000780288 RCV001249081 RCV002490309

NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)

SNV
Germline

Chr1:155235823

Pathogenic/Likely pathogenic

Gaucher disease type III
Gaucher disease type I
Gaucher disease
Condition: not provided
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Abnormal bleeding
Thrombocytopenia
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA253107

rs_121908311

13 SubmittersRCV000004572 RCV000004571 RCV000055772 RCV000723428 RCV001004116 RCV001270486 RCV002482828

NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)

SNV
Germline

Chr1:155237453

Pathogenic

Gaucher disease perinatal lethal
Gaucher disease
Condition: not provided
7 conditions
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Parkinson disease, late-onset
Gaucher disease type I
GBA1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA221417

rs_78973108

15 SubmittersRCV000004573 RCV000020159 RCV000079357 RCV000762855 RCV001004125 RCV001836699 RCV003225017 RCV004554584

NM_000157.4(GBA1):c.509G>T (p.Arg170Leu)

SNV
Germline

Chr1:155238596

Likely pathogenic

Gaucher disease perinatal lethal
Gaucher disease

Criteria Provided
Single Submitter

CA253112

rs_80356763

3 SubmittersRCV000004574 RCV000020155

NM_000157.4(GBA1):c.354G>C (p.Lys118Asn)

SNV
Germline

Chr1:155239716

Pathogenic/Likely pathogenic

Gaucher disease type III
Gaucher disease type I
Condition: not provided
Gaucher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA221396

rs_121908312

4 SubmittersRCV000004576 RCV000004575 RCV000790694 RCV002281694

NM_000157.4(GBA1):c.870C>A (p.Phe290Leu)

SNV
Germline

Chr1:155237470

Pathogenic

Gaucher disease perinatal lethal

No Assertion Criteria Provided

CA253114

rs_121908313

1 SubmittersRCV000004577

NM_000157.4(GBA1):c.1228C>G (p.Leu410Val)

SNV
Germline

Chr1:155235841

Pathogenic

Gaucher disease type I

No Assertion Criteria Provided

CA253116

rs_121908314

1 SubmittersRCV000004578

NM_000157.4(GBA1):c.1506-1G>A

SNV
Germline

Chr1:155235101

Pathogenic

Gaucher disease perinatal lethal

No Assertion Criteria Provided

rs_1571964338

1 SubmittersRCV000004579

NM_000157.4(GBA1):c.882T>G (p.His294Gln)

SNV
Germline

Chr1:155237458

Conflicting classifications of pathogenicity; other

Condition: not provided
Gaucher disease type I
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gaucher disease type II
Gaucher disease type III
Gaucher disease
Gaucher disease type I
Gaucher disease perinatal lethal
not specified

Criteria Provided
Conflicting Classifications

CA028590

rs_367968666

16 SubmittersRCV000589369 RCV001004126 RCV001248861 RCV001329068 RCV001195955 RCV002247685

NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn)

SNV
Germline

Chr1:155235256

Conflicting classifications of pathogenicity

Parkinson disease, late-onset
not specified
Condition: not provided
Gaucher disease
7 conditions

Criteria Provided
Conflicting Classifications

CA253118

rs_75671029

7 SubmittersRCV000004582 RCV001174737 RCV001582465 RCV001826414 RCV002490310

NM_002778.4(PSAP):c.1145G>T (p.Cys382Phe)

SNV
Germline

Chr10:71819761

Pathogenic

Gaucher disease due to saposin C deficiency

No Assertion Criteria Provided

CA123059

rs_121918105

1 SubmittersRCV000014292

NM_002778.4(PSAP):c.1A>T (p.Met1Leu)

SNV
Germline

Chr10:71851221

Pathogenic

Gaucher disease due to saposin C deficiency
Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA123061

rs_121918106

3 SubmittersRCV000014294 RCV000014293 RCV001857349

NM_002778.4(PSAP):c.1144T>G (p.Cys382Gly)

SNV
Germline

Chr10:71819762

Pathogenic

Gaucher disease due to saposin C deficiency

No Assertion Criteria Provided

CA123065

rs_121918108

1 SubmittersRCV000014299

NM_002778.4(PSAP):c.1288C>T (p.Gln430Ter)

SNV
Germline

Chr10:71819527

Pathogenic

Gaucher disease due to saposin C deficiency

No Assertion Criteria Provided

CA123067

rs_121918109

1 SubmittersRCV000014300

NM_002778.4(PSAP):c.1046T>C (p.Leu349Pro)

SNV
Germline

Chr10:71819860

Likely pathogenic

Gaucher disease due to saposin C deficiency
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA123069

rs_121918110

2 SubmittersRCV000014301 RCV003317034

NM_000157.4(GBA1):c.1505G>A (p.Arg502His)

SNV
Germline

Chr1:155235195

Pathogenic/Likely pathogenic

Gaucher disease
Gaucher disease type I
Condition: not provided
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gaucher disease type I
Gaucher disease type II

Criteria Provided
Multiple Submitters
No Conflicts

CA341578

rs_80356772

9 SubmittersRCV000020152 RCV000409564 RCV000824058 RCV001004109

NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)

SNV
Germline

Chr1:155238192

Pathogenic/Likely pathogenic

Gaucher disease
Gaucher disease perinatal lethal
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Condition: not provided
not specified
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA341581

rs_1064644

9 SubmittersRCV000020157 RCV000625849 RCV001004129 RCV003237414 RCV004018648 RCV002504814

NM_000157.4(GBA1):c.475C>T (p.Arg159Trp)

SNV
Germline

Chr1:155238630

Pathogenic

Gaucher disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA221398

rs_439898

9 SubmittersRCV000055774 RCV000179355

NM_000157.4(GBA1):c.1060G>C (p.Asp354His)

SNV
Germline

Chr1:155236409

Conflicting classifications of pathogenicity

Condition: not provided
Gaucher disease
not specified

Criteria Provided
Conflicting Classifications

CA221379

rs_398123526

4 SubmittersRCV000180536 RCV001248921 RCV000781410

NM_000157.4(GBA1):c.115+1G>A

SNV
Germline

Chr1:155240629

Pathogenic/Likely pathogenic

Gaucher disease type II
Gaucher disease
Gaucher disease type I
7 conditions
Gaucher disease type II
Gaucher disease type III
Gaucher disease type I
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Parkinson disease, late-onset
Condition: not provided
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA221383

rs_104886460

17 SubmittersRCV000004546 RCV000032094 RCV000177098 RCV000762856 RCV001004137 RCV001253701 RCV000790724 RCV004019534

NM_000157.4(GBA1):c.1171G>C (p.Val391Leu)

SNV
Germline

Chr1:155236298

Pathogenic/Likely pathogenic

Condition: not provided
Gaucher disease type II
Gaucher disease type III
Gaucher disease type I
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gaucher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA221384

rs_398123527

4 SubmittersRCV000180534 RCV001004119 RCV000781412

NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)

SNV
Germline

Chr1:155236246

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Parkinson disease, late-onset
Gaucher disease perinatal lethal
Gaucher disease

Criteria Provided
Conflicting Classifications

CA221388

rs_75548401

16 SubmittersRCV000079335 RCV000244995 RCV000416597 RCV001196545 RCV001249086

NM_000157.4(GBA1):c.1240G>T (p.Val414Leu)

SNV
Germline

Chr1:155235829

Pathogenic/Likely pathogenic

Condition: not provided
Gaucher disease type I
Gaucher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA221390

rs_398123528

4 SubmittersRCV000173717 RCV001249087 RCV001174722

NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)

SNV
Germline

Chr1:155235252

Pathogenic/Likely pathogenic

Condition: not provided
Gaucher disease type II
Gaucher disease
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gaucher disease type I
Gaucher disease type III
GBA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16040607

rs_421016

9 SubmittersRCV000414719 RCV000663363 RCV000781411 RCV001004111 RCV001248963 RCV001808310 RCV003335096

NM_000157.4(GBA1):c.508C>T (p.Arg170Cys)

SNV
Germline

Chr1:155238597

Pathogenic

Condition: not provided
Gaucher disease type II
Gaucher disease type III
Gaucher disease type I
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gaucher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA221401

rs_398123530

5 SubmittersRCV000179353 RCV001004135 RCV001249029

NM_000157.4(GBA1):c.625C>T (p.Arg209Cys)

SNV
Germline

Chr1:155238270

Pathogenic/Likely pathogenic

Condition: not provided
Gaucher disease
Gaucher disease type II
Gaucher disease type III
Gaucher disease type I
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA221403

rs_398123532

7 SubmittersRCV000179793 RCV000780284 RCV001004133

NM_000157.4(GBA1):c.667T>C (p.Trp223Arg)

SNV
Germline

Chr1:155238228

Conflicting classifications of pathogenicity

Condition: not provided
Gaucher disease type II
Gaucher disease type III
Gaucher disease type I
Gaucher disease
not specified

Criteria Provided
Conflicting Classifications

CA221407

rs_61748906

8 SubmittersRCV000079351 RCV000243066 RCV000588402 RCV004019535

NM_000157.4(GBA1):c.681T>G (p.Asn227Lys)

SNV
Germline

Chr1:155238214

Pathogenic/Likely pathogenic

Condition: not provided
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gaucher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA221409

rs_381418

5 SubmittersRCV000079353 RCV001004130 RCV001249030

NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)

SNV
Germline

Chr1:155238174

Pathogenic/Likely pathogenic

Gaucher disease
Gaucher disease type II
Gaucher disease type III
Gaucher disease type I
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Parkinson disease, late-onset
Gaucher disease type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA221411

rs_409652

12 SubmittersRCV000589250 RCV001004128 RCV002468565 RCV003448261 RCV000675275

NM_000157.4(GBA1):c.431T>G (p.Leu144Arg)

SNV
Germline

Chr1:155239639

Conflicting classifications of pathogenicity

Condition: not provided
Gaucher disease

Criteria Provided
Conflicting Classifications

CA275304

rs_794727708

2 SubmittersRCV000178813 RCV001249026

NM_000157.4(GBA1):c.437C>T (p.Ser146Leu)

SNV
Germline

Chr1:155239633

Conflicting classifications of pathogenicity

Condition: not provided
Gaucher disease
Gaucher disease type I
not specified

Criteria Provided
Conflicting Classifications

CA245985

rs_758447515

5 SubmittersRCV000178814 RCV001249027 RCV001808455 RCV004020131

NM_000157.4(GBA1):c.485T>C (p.Met162Thr)

SNV
Germline

Chr1:155238620

Conflicting classifications of pathogenicity

Condition: not provided
Gaucher disease

Criteria Provided
Conflicting Classifications

CA246603

rs_794727783

2 SubmittersRCV000179352 RCV003323429

NM_000157.4(GBA1):c.896T>C (p.Ile299Thr)

SNV
Germline

Chr1:155237444

Likely pathogenic

Condition: not provided
Gaucher disease
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA275428

rs_794727908

4 SubmittersRCV000180196 RCV001248862 RCV002500517

NM_000157.4(GBA1):c.474C>T (p.Ile158=)

SNV
Germline

Chr1:155238631

Conflicting classifications of pathogenicity

Gaucher disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA358332

rs_147411159

5 SubmittersRCV000210895 RCV001580471 RCV002271465

NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys)

SNV
Germline

Chr1:155235003

Pathogenic

Gaucher disease type I
Gaucher disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1141476

rs_747506979

6 SubmittersRCV000417294 RCV001175549 RCV001782727

NM_000157.4(GBA1):c.1459G>A (p.Ala487Thr)

SNV
Germline

Chr1:155235241

Likely pathogenic

Gaucher disease type I

No Assertion Criteria Provided

CA10581616

rs_878853317

1 SubmittersRCV000225643

NM_000157.4(GBA1):c.1397T>G (p.Ile466Ser)

SNV
Germline

Chr1:155235303

Likely pathogenic

Gaucher disease type I

No Assertion Criteria Provided

CA10581617

rs_878853320

1 SubmittersRCV000225638

NM_000157.4(GBA1):c.1177C>G (p.Leu393Val)

SNV
Germline

Chr1:155236292

Likely pathogenic

Gaucher disease type I

No Assertion Criteria Provided

CA10581618

rs_878853315

1 SubmittersRCV000225396

NM_000157.4(GBA1):c.866G>C (p.Gly289Ala)

SNV
Germline

Chr1:155237474

Likely pathogenic

Gaucher disease type I

No Assertion Criteria Provided

CA10581619

rs_878853321

1 SubmittersRCV000225413

NM_000157.4(GBA1):c.415G>C (p.Ala139Pro)

SNV
Germline

Chr1:155239655

Likely pathogenic

Gaucher disease type I

No Assertion Criteria Provided

CA10581620

rs_878853314

1 SubmittersRCV000225581

NM_002778.4(PSAP):c.-28A>C

SNV
Germline

Chr10:71851249

Conflicting classifications of pathogenicity

not specified
Gaucher disease due to saposin C deficiency
Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency

Criteria Provided
Conflicting Classifications

CA5547957

rs_375720661

2 SubmittersRCV000245942 RCV000265215 RCV000266404 RCV000320357 RCV000360960

NM_000157.4(GBA1):c.521A>G (p.Tyr174Cys)

SNV
Germline

Chr1:155238584

Conflicting classifications of pathogenicity

Condition: not provided
Gaucher disease

Criteria Provided
Conflicting Classifications

CA1141727

rs_781152868

2 SubmittersRCV000321615 RCV001249028

NM_000157.4(GBA1):c.637C>T (p.Leu213Phe)

SNV
Germline

Chr1:155238258

Conflicting classifications of pathogenicity

Condition: not provided
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gaucher disease type I
Gaucher disease

Criteria Provided
Conflicting Classifications

CA1141709

rs_374591570

3 SubmittersRCV000275601 RCV001004132 RCV002290968 RCV003329161

NM_002778.4(PSAP):c.*122C>G

SNV
Germline

Chr10:71817319

Conflicting classifications of pathogenicity

Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency
Gaucher disease due to saposin C deficiency
Krabbe disease due to saposin A deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10628841

rs_113284884

2 SubmittersRCV000267855 RCV000298428 RCV000360087 RCV000390908 RCV001556327

NM_002778.4(PSAP):c.1476T>C (p.Thr492=)

SNV
Germline

Chr10:71818680

Conflicting classifications of pathogenicity

Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency

Criteria Provided
Conflicting Classifications

CA5547327

rs_139178900

2 SubmittersRCV000287337 RCV000336521 RCV000340063 RCV000904670

NM_002778.4(PSAP):c.1432-4A>G

SNV
Germline

Chr10:71818728

Conflicting classifications of pathogenicity

Sphingolipid activator protein 1 deficiency
Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency

Criteria Provided
Conflicting Classifications

CA5547334

rs_775086571

2 SubmittersRCV000261764 RCV000319311 RCV000368118 RCV000371699

NM_002778.4(PSAP):c.1172C>T (p.Thr391Met)

SNV
Germline

Chr10:71819734

Conflicting classifications of pathogenicity

Combined PSAP deficiency
Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency
Condition: not provided
Metachromatic leukodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5547470

rs_202125074

6 SubmittersRCV000349589 RCV000350842 RCV000389048 RCV001044241 RCV002262951 RCV001833438 RCV002520627

NM_002778.4(PSAP):c.1056C>T (p.Ser352=)

SNV
Germline

Chr10:71819850

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Combined PSAP deficiency
Galactosylceramide beta-galactosidase deficiency
Atypical Gaucher Disease
Sphingolipid activator protein 1 deficiency
Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency

Criteria Provided
Conflicting Classifications

CA5547494

rs_138328594

2 SubmittersRCV000264576 RCV000303307 RCV000304947 RCV000361976 RCV000973449 RCV001103918 RCV001103919

NM_002778.4(PSAP):c.174+9C>T

SNV
Germline

Chr10:71834363

Conflicting classifications of pathogenicity

Gaucher disease due to saposin C deficiency
Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency

Criteria Provided
Conflicting Classifications

CA5547878

rs_141133813

2 SubmittersRCV000307686 RCV000362343 RCV000361163 RCV000895393

NM_002778.4(PSAP):c.88G>T (p.Ala30Ser)

SNV
Germline

Chr10:71834458

Conflicting classifications of pathogenicity

Combined PSAP deficiency
Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5547906

rs_144942998

3 SubmittersRCV000304205 RCV000345088 RCV000393668 RCV000972285 RCV001552293

NM_002778.4(PSAP):c.41-13G>C

SNV
Germline

Chr10:71834518

Conflicting classifications of pathogenicity

Sphingolipid activator protein 1 deficiency
Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency
Combined PSAP deficiency

Criteria Provided
Conflicting Classifications

CA5547926

rs_138010978

2 SubmittersRCV000263028 RCV000275892 RCV000316930 RCV000371674

NM_002778.4(PSAP):c.1456C>T (p.His486Tyr)

SNV
Germline

Chr10:71818700

Conflicting classifications of pathogenicity

Sphingolipid activator protein 1 deficiency
Gaucher disease due to saposin C deficiency
Combined PSAP deficiency
Krabbe disease due to saposin A deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5547329

rs_749660716

3 SubmittersRCV000309664 RCV000407182 RCV000366675 RCV000402799 RCV002520626

NM_002778.4(PSAP):c.1000A>T (p.Thr334Ser)

SNV
Germline

Chr10:71820245

Conflicting classifications of pathogenicity

Krabbe disease due to saposin A deficiency
Sphingolipid activator protein 1 deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency

Criteria Provided
Conflicting Classifications

CA5547544

rs_749663645

2 SubmittersRCV000276629 RCV000294309 RCV000333973 RCV000386288

NM_002778.4(PSAP):c.577-10T>C

SNV
Germline

Chr10:71828167

Conflicting classifications of pathogenicity

Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Krabbe disease due to saposin A deficiency
Sphingolipid activator protein 1 deficiency

Criteria Provided
Conflicting Classifications

CA5547724

rs_185892516

2 SubmittersRCV000259735 RCV000284433 RCV000319640 RCV000898101

NM_002778.4(PSAP):c.227T>A (p.Met76Lys)

SNV
Germline

Chr10:71831868

Conflicting classifications of pathogenicity

Sphingolipid activator protein 1 deficiency
Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency
Combined PSAP deficiency

Criteria Provided
Conflicting Classifications

CA5547842

rs_377024801

2 SubmittersRCV000294452 RCV000329512 RCV000349338 RCV000384126

NM_002778.4(PSAP):c.1278C>T (p.Asn426=)

SNV
Germline

Chr10:71819537

Conflicting classifications of pathogenicity

Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency
Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency
Metachromatic leukodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA5547413

rs_777227555

4 SubmittersRCV000259660 RCV000299749 RCV000356874 RCV000932186 RCV001272671 RCV003330636

NM_002778.4(PSAP):c.1088C>T (p.Thr363Met)

SNV
Germline

Chr10:71819818

Conflicting classifications of pathogenicity

Gaucher disease due to saposin C deficiency
Combined PSAP deficiency
Krabbe disease due to saposin A deficiency
Sphingolipid activator protein 1 deficiency
Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA5547484

rs_140066253

4 SubmittersRCV000301263 RCV000335258 RCV000390963 RCV000390949 RCV001356155 RCV001828310

NM_002778.4(PSAP):c.1012A>G (p.Ile338Val)

SNV
Germline

Chr10:71819894

Conflicting classifications of pathogenicity

Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency
Gaucher disease due to saposin C deficiency

Criteria Provided
Conflicting Classifications

CA5547512

rs_544300820

1 SubmittersRCV000273320 RCV000325945 RCV000365539 RCV000382922

NM_002778.4(PSAP):c.798G>A (p.Ala266=)

SNV
Germline

Chr10:71821987

Conflicting classifications of pathogenicity

Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA5547598

rs_199672678

3 SubmittersRCV000270227 RCV000310085 RCV000313643 RCV000362418 RCV001833439

NM_002778.4(PSAP):c.189C>T (p.Cys63=)

SNV
Germline

Chr10:71831906

Conflicting classifications of pathogenicity

Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency
Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5547853

rs_111369573

4 SubmittersRCV000301590 RCV000300495 RCV000355292 RCV000971779 RCV001672431

NM_002778.4(PSAP):c.*9A>G

SNV
Germline

Chr10:71817432

Conflicting classifications of pathogenicity

Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency

Criteria Provided
Conflicting Classifications

CA5547287

rs_376628499

1 SubmittersRCV000279004 RCV000294266 RCV000318911 RCV000375756

NM_002778.4(PSAP):c.1261C>T (p.Arg421Cys)

SNV
Germline

Chr10:71819554

Conflicting classifications of pathogenicity

Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency
Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency

Criteria Provided
Conflicting Classifications

CA5547418

rs_529719024

2 SubmittersRCV000267782 RCV000320675 RCV000360171 RCV000377595

NM_002778.4(PSAP):c.714C>G (p.Ala238=)

SNV
Germline

Chr10:71828020

Conflicting classifications of pathogenicity

Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency
Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5547688

rs_141199649

3 SubmittersRCV000332576 RCV000354645 RCV000370671 RCV000902915 RCV003417974

NM_002778.4(PSAP):c.557G>A (p.Arg186His)

SNV
Germline

Chr10:71828896

Conflicting classifications of pathogenicity

Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency
Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency

Criteria Provided
Conflicting Classifications

CA5547747

rs_138880818

2 SubmittersRCV000291043 RCV000345936 RCV000391944 RCV000401145

NM_002778.4(PSAP):c.250-12G>A

SNV
Germline

Chr10:71831263

Conflicting classifications of pathogenicity

Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency
Combined PSAP deficiency

Criteria Provided
Conflicting Classifications

CA10636149

rs_886047152

2 SubmittersRCV000268193 RCV000288083 RCV000323233 RCV000382490

NM_002778.4(PSAP):c.167C>G (p.Pro56Arg)

SNV
Germline

Chr10:71834379

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Atypical Gaucher Disease
Combined PSAP deficiency
Metachromatic leukodystrophy
Sphingolipid activator protein 1 deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5547881

rs_571773332

3 SubmittersRCV000274090 RCV000272506 RCV000327586 RCV000386828 RCV002522167 RCV004021479

NM_002778.4(PSAP):c.112A>T (p.Thr38Ser)

SNV
Germline

Chr10:71834434

Conflicting classifications of pathogenicity

Krabbe disease due to saposin A deficiency
Sphingolipid activator protein 1 deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency

Criteria Provided
Conflicting Classifications

CA5547902

rs_535525554

2 SubmittersRCV000279820 RCV000333853 RCV000334914 RCV000388278

NM_002778.4(PSAP):c.40+12G>A

SNV
Germline

Chr10:71851170

Conflicting classifications of pathogenicity

Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency
Gaucher disease due to saposin C deficiency

Criteria Provided
Conflicting Classifications

CA10636150

rs_886047153

2 SubmittersRCV000283508 RCV000318811 RCV000343158 RCV000378161

NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys)

SNV
Germline

Chr1:155236367

Conflicting classifications of pathogenicity

Condition: not provided
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
not specified
Gaucher disease
GBA1-related disorder

Criteria Provided
Conflicting Classifications

CA1141619

rs_374306700

5 SubmittersRCV000487271 RCV001004120 RCV001584196 RCV001249080 RCV003419796

NM_002778.4(PSAP):c.1369G>T (p.Glu457Ter)

SNV
Germline

Chr10:71819093

Pathogenic

Gaucher disease due to saposin C deficiency
Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency
Krabbe disease due to saposin A deficiency

No Assertion Criteria Provided

CA377142142

rs_1554879741

1 SubmittersRCV000505561

NM_000157.4(GBA1):c.526G>A (p.Asp176Asn)

SNV
Germline

Chr1:155238579

Pathogenic

Gaucher disease type I

No Assertion Criteria Provided

CA342724232

rs_1553217946

1 SubmittersRCV000515467

NM_000157.4(GBA1):c.1296G>A (p.Trp432Ter)

SNV
Germline

Chr1:155235773

Conflicting classifications of pathogenicity

Condition: not provided
Gaucher disease

Criteria Provided
Conflicting Classifications

CA342713418

rs_1484043383

2 SubmittersRCV000585394 RCV001249088

NM_000157.4(GBA1):c.1312G>A (p.Asp438Asn)

SNV
Germline

Chr1:155235757

Pathogenic

Gaucher disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342713229

rs_1553217009

3 SubmittersRCV000589122 RCV001212081

NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser)

SNV
Germline

Chr1:155236417

Likely pathogenic

Gaucher disease
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA342717600

rs_1553217294

3 SubmittersRCV000587644 RCV002497235

NM_000157.4(GBA1):c.1224G>A (p.Thr408=)

SNV
Germline

Chr1:155236245

Conflicting classifications of pathogenicity

Condition: not provided
Gaucher disease type I
Gaucher disease type II
Gaucher disease
7 conditions

Criteria Provided
Conflicting Classifications

CA1141598

rs_138498426

6 SubmittersRCV000599326 RCV000986425 RCV001563762 RCV001834913 RCV002498876

NM_000157.4(GBA1):c.1279G>T (p.Glu427Ter)

SNV
Germline

Chr1:155235790

Likely pathogenic

Gaucher disease

Criteria Provided
Single Submitter

CA342713575

rs_149171124

1 SubmittersRCV000607009

NM_000157.4(GBA1):c.886C>T (p.Arg296Ter)

SNV
Germline

Chr1:155237454

Pathogenic

Condition: not provided
Gaucher disease

Criteria Provided
Single Submitter

rs_1553217626

3 SubmittersRCV000675274 RCV001193933

NM_000157.4(GBA1):c.1271T>C (p.Leu424Pro)

SNV
Germline

Chr1:155235798

Likely pathogenic

Gaucher disease type I

Criteria Provided
Single Submitter

rs_772548282

1 SubmittersRCV000761282

NM_000157.4(GBA1):c.1357C>T (p.Gln453Ter)

SNV
Germline

Chr1:155235712

Pathogenic

Gaucher disease

Criteria Provided
Single Submitter

rs_1557901325

1 SubmittersRCV000781414

NM_000157.4(GBA1):c.1250G>A (p.Trp417Ter)

SNV
Germline

Chr1:155235819

Likely pathogenic

Gaucher disease

Criteria Provided
Single Submitter

rs_754743440

2 SubmittersRCV000780283

NM_000157.4(GBA1):c.709A>G (p.Lys237Glu)

SNV
Germline

Chr1:155238186

Pathogenic/Likely pathogenic

Gaucher disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_773409311

3 SubmittersRCV000781408 RCV003144585

NM_000157.4(GBA1):c.653G>A (p.Trp218Ter)

SNV
Germline

Chr1:155238242

Pathogenic

Gaucher disease
Thrombocytopenia
Abnormal bleeding
Parkinson disease, late-onset
Gaucher disease type I

Criteria Provided
Multiple Submitters
No Conflicts

rs_867929413

5 SubmittersRCV000780286 RCV001270597 RCV001836879 RCV002509533

NM_000157.4(GBA1):c.497A>T (p.Asp166Val)

SNV
Germline

Chr1:155238608

Likely pathogenic

Gaucher disease

Criteria Provided
Single Submitter

rs_79796061

1 SubmittersRCV000780285

NM_000157.4(GBA1):c.762-1G>C

SNV
Germline

Chr1:155237579

Pathogenic/Likely pathogenic

Gaucher disease
Parkinson disease, late-onset
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

rs_1237637353

4 SubmittersRCV000781413 RCV000995774 RCV002487610

NM_000157.4(GBA1):c.1495G>C (p.Val499Leu)

SNV
Germline

Chr1:155235205

Conflicting classifications of pathogenicity

Gaucher disease type I
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_369068553

4 SubmittersRCV000785070 RCV001759479

NM_000157.4(GBA1):c.999+242C>A

SNV
Germline

Chr1:155237099

Pathogenic

Gaucher disease type I

Criteria Provided
Single Submitter

rs_1571969643

1 SubmittersRCV000999462

NM_000157.4(GBA1):c.1503C>G (p.Asn501Lys)

SNV
Germline

Chr1:155235197

Likely pathogenic

Gaucher disease type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_755265316

2 SubmittersRCV000853241 RCV001784467

NM_002778.4(PSAP):c.1146C>T (p.Cys382=)

SNV
Germline

Chr10:71819760

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Sphingolipid activator protein 1 deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Krabbe disease due to saposin A deficiency

Criteria Provided
Conflicting Classifications

rs_573095617

3 SubmittersRCV001272673 RCV000943827 RCV001107536 RCV001107537 RCV001107538

NM_000157.4(GBA1):c.168C>T (p.Val56=)

SNV
Germline

Chr1:155240025

Conflicting classifications of pathogenicity

Condition: not provided
Gaucher disease type I

Criteria Provided
Conflicting Classifications

rs_145773486

2 SubmittersRCV000994120 RCV001563831

NM_000157.4(GBA1):c.1388+2T>C

SNV
Unknown

Chr1:155235679

Likely pathogenic

Gaucher disease type I

No Assertion Criteria Provided

rs_1571965880

1 SubmittersRCV002290982

NM_000157.4(GBA1):c.1174C>T (p.Arg392Trp)

SNV
Germline

Chr1:155236295

Pathogenic

Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Criteria Provided
Single Submitter

rs_121908308

1 SubmittersRCV001004118

NM_000157.4(GBA1):c.970C>T (p.Arg324Cys)

SNV
Germline

Chr1:155237370

Conflicting classifications of pathogenicity

Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gaucher disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_765633380

3 SubmittersRCV001004121 RCV001797810 RCV003132137

NM_000157.4(GBA1):c.946C>T (p.Arg316Cys)

SNV
Germline

Chr1:155237394

Conflicting classifications of pathogenicity

Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Parkinson disease, late-onset
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1264734195

4 SubmittersRCV001004122 RCV001836930 RCV001805970 RCV001759683

NM_000157.4(GBA1):c.929G>A (p.Ser310Asn)

SNV
Germline

Chr1:155237411

Conflicting classifications of pathogenicity

Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_74731340

2 SubmittersRCV001004123 RCV003132138

NM_000157.4(GBA1):c.913C>G (p.Pro305Ala)

SNV
Germline

Chr1:155237427

Conflicting classifications of pathogenicity

Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_770796008

2 SubmittersRCV001004124 RCV003132139

NM_000157.4(GBA1):c.509G>A (p.Arg170His)

SNV
Germline

Chr1:155238596

Conflicting classifications of pathogenicity

Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_80356763

2 SubmittersRCV001004134 RCV002282424

NM_002778.4(PSAP):c.*737G>A

SNV
Germline

Chr10:71816704

Conflicting classifications of pathogenicity

Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency
Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency

Criteria Provided
Conflicting Classifications

rs_147046509

1 SubmittersRCV001106602 RCV001106603 RCV001108767 RCV001108768

NM_002778.4(PSAP):c.*376A>G

SNV
Germline

Chr10:71817065

Conflicting classifications of pathogenicity

Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency

Criteria Provided
Conflicting Classifications

rs_141906397

1 SubmittersRCV001103619 RCV001103620 RCV001105559 RCV001105558

NM_002778.4(PSAP):c.1197C>T (p.His399=)

SNV
Germline

Chr10:71819618

Conflicting classifications of pathogenicity

Sphingolipid activator protein 1 deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Krabbe disease due to saposin A deficiency

Criteria Provided
Conflicting Classifications

rs_748761213

2 SubmittersRCV001106864 RCV001106865 RCV001106866 RCV001106867

NM_002778.4(PSAP):c.565C>T (p.Pro189Ser)

SNV
Germline

Chr10:71828888

Conflicting classifications of pathogenicity

Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency
Krabbe disease due to saposin A deficiency
not specified

Criteria Provided
Conflicting Classifications

rs_188854022

2 SubmittersRCV001104312 RCV001104309 RCV001104310 RCV001104311 RCV003235470

NM_002778.4(PSAP):c.423C>T (p.Leu141=)

SNV
Germline

Chr10:71829030

Conflicting classifications of pathogenicity

Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency

Criteria Provided
Conflicting Classifications

rs_780891597

2 SubmittersRCV001107070 RCV001107069 RCV001107067 RCV001107068

NM_002778.4(PSAP):c.249+6C>T

SNV
Germline

Chr10:71831840

Conflicting classifications of pathogenicity

Sphingolipid activator protein 1 deficiency
Gaucher disease due to saposin C deficiency
Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_774663731

3 SubmittersRCV001104399 RCV001104400 RCV001104401 RCV001104402 RCV002555021

NM_000157.4(GBA1):c.1599G>A (p.Trp533Ter)

SNV
Germline

Chr1:155235007

Pathogenic

Gaucher disease type I
Gaucher disease

Criteria Provided
Single Submitter

rs_1671655923

2 SubmittersRCV001175136 RCV003317439

NM_000157.4(GBA1):c.1259G>A (p.Trp420Ter)

SNV
Germline

Chr1:155235810

Pathogenic

Gaucher disease

Criteria Provided
Single Submitter

rs_1671711470

1 SubmittersRCV001175548

NM_000157.4(GBA1):c.1184C>T (p.Ser395Phe)

SNV
Germline

Chr1:155236285

Pathogenic

Gaucher disease
Condition: not provided
Gaucher disease type I
not specified

Criteria Provided
Multiple Submitters
No Conflicts

rs_760307559

4 SubmittersRCV001175547 RCV001784667 RCV003479285 RCV004032984

NM_000157.4(GBA1):c.706C>T (p.Leu236Phe)

SNV
Germline

Chr1:155238189

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Gaucher disease

Criteria Provided
Conflicting Classifications

rs_1671865905

3 SubmittersRCV001193937 RCV001751354 RCV001833750

NM_000157.4(GBA1):c.689T>G (p.Val230Gly)

SNV
Germline

Chr1:155238206

Pathogenic

Gaucher disease

Criteria Provided
Single Submitter

rs_381427

1 SubmittersRCV003226440

NM_000157.4(GBA1):c.1289C>T (p.Pro430Leu)

SNV
Germline

Chr1:155235780

Pathogenic

Gaucher disease perinatal lethal
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_76910485

2 SubmittersRCV001198752 RCV001863130

NM_000157.4(GBA1):c.894C>A (p.Phe298Leu)

SNV
Germline

Chr1:155237446

Likely pathogenic

Gaucher disease

Criteria Provided
Single Submitter

rs_1671825414

2 SubmittersRCV001199909

NM_000157.4(GBA1):c.661C>A (p.Pro221Thr)

SNV
Germline

Chr1:155238234

Pathogenic/Likely pathogenic

Gaucher disease
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

rs_866075757

2 SubmittersRCV001199857 RCV002497680

NM_000157.4(GBA1):c.1238A>C (p.His413Pro)

SNV
Germline

Chr1:155235831

Likely pathogenic

Gaucher disease type I

No Assertion Criteria Provided

rs_911331923

1 SubmittersRCV001200044

NM_000157.4(GBA1):c.1214G>C (p.Ser405Thr)

SNV
Germline

Chr1:155236255

Likely pathogenic

Gaucher disease type I

No Assertion Criteria Provided

rs_1392291885

1 SubmittersRCV001200045

NM_181882.3(PRX):c.231C>A (p.Tyr77Ter)

SNV
Germline

Chr19:40398770

Pathogenic

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4F
Gaucher disease
PRX-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_752192677

3 SubmittersRCV001231331 RCV002305577 RCV004526818 RCV004579570

NM_000157.4(GBA1):c.108G>A (p.Trp36Ter)

SNV
Germline

Chr1:155240637

Pathogenic

Gaucher disease

Criteria Provided
Single Submitter

rs_777383151

2 SubmittersRCV001251352

NM_000157.4(GBA1):c.334C>T (p.Gln112Ter)

SNV
Germline

Chr1:155239736

Pathogenic

Gaucher disease

Criteria Provided
Single Submitter

rs_1671974195

1 SubmittersRCV001264492

NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala)

SNV
Germline

Chr10:71819830

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_765744298

3 SubmittersRCV001280271 RCV001449850 RCV002541741

NM_000157.4(GBA1):c.635C>G (p.Ser212Ter)

SNV
Germline

Chr1:155238260

Pathogenic

Gaucher disease
Condition: not provided
Parkinson disease, late-onset

Criteria Provided
Multiple Submitters
No Conflicts

rs_1671872221

5 SubmittersRCV001290586 RCV001566455 RCV001836981

NM_000157.4(GBA1):c.914C>T (p.Pro305Leu)

SNV
Unknown

Chr1:155237426

Likely pathogenic

Gaucher disease type I

Criteria Provided
Single Submitter

rs_79215220

1 SubmittersRCV001376104

NM_000157.4(GBA1):c.604C>T (p.Arg202Ter)

SNV
Germline

Chr1:155238291

Pathogenic/Likely pathogenic

Parkinson disease, late-onset
Gaucher disease
Condition: not provided
GBA1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1009850780

6 SubmittersRCV001837003 RCV001732184 RCV001780385 RCV003416342

NM_000157.4(GBA1):c.1255G>A (p.Asp419Asn)

SNV
Unknown

Chr1:155235814

Likely pathogenic

Gaucher disease type I

Criteria Provided
Single Submitter

rs_1671712475

1 SubmittersRCV001542262

NM_000157.4(GBA1):c.1249T>G (p.Trp417Gly)

SNV
Germline

Chr1:155235820

Pathogenic/Likely pathogenic

Condition: not provided
7 conditions
Gaucher disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1450426641

3 SubmittersRCV001583104 RCV002488413 RCV001827516

NM_000157.4(GBA1):c.256C>T (p.Arg86Ter)

SNV
Germline

Chr1:155239937

Pathogenic

Gaucher disease

Criteria Provided
Single Submitter

rs_1671987417

1 SubmittersRCV001779515

NM_002778.4(PSAP):c.1005+1G>A

SNV
Germline

Chr10:71820239

Likely pathogenic

Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency

Criteria Provided
Single Submitter

rs_113365744

2 SubmittersRCV001801340 RCV002541348

NM_000157.4(GBA1):c.492C>G (p.Ser164Arg)

SNV
Germline

Chr1:155238613

Likely pathogenic

Gaucher disease type I
Gaucher disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_746019841

3 SubmittersRCV001823570 RCV002282581 RCV003146246

NM_000157.4(GBA1):c.454+1G>A

SNV
Germline

Chr1:155239615

Likely pathogenic

Gaucher disease

Criteria Provided
Single Submitter

rs_539166948

1 SubmittersRCV002238585

NM_000157.4(GBA1):c.1505+2T>A

SNV
Germline

Chr1:155235193

Likely pathogenic

Gaucher disease

Criteria Provided
Single Submitter

rs_2148070287

1 SubmittersRCV002271843

NM_000157.4(GBA1):c.484A>G (p.Met162Val)

SNV
Germline

Chr1:155238621

Conflicting classifications of pathogenicity

Gaucher disease type I
Gaucher disease
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002282765 RCV003230742 RCV003146532

NM_000157.4(GBA1):c.1214G>A (p.Ser405Asn)

SNV
Germline

Chr1:155236255

Conflicting classifications of pathogenicity

Gaucher disease
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003388120 RCV004066487

NM_000157.4(GBA1):c.44T>C (p.Leu15Ser)

SNV
Germline

Chr1:155240701

Conflicting classifications of pathogenicity

not specified
Gaucher disease type I

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004091313 RCV004560069

NM_000157.4(GBA1):c.1300C>T (p.Arg434Cys)

SNV
Germline

Chr1:155235769

Likely pathogenic

Gaucher disease

Criteria Provided
Single Submitter

1 SubmittersRCV003123406

NM_000157.4(GBA1):c.827C>T (p.Ser276Phe)

SNV
Germline

Chr1:155237513

Conflicting classifications of pathogenicity

Condition: not provided
Gaucher disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003135334 RCV004579610

NM_000157.4(GBA1):c.847T>C (p.Tyr283His)

SNV
Germline

Chr1:155237493

Likely pathogenic

Gaucher disease

Criteria Provided
Single Submitter

1 SubmittersRCV003226690

NM_000157.4(GBA1):c.260G>A (p.Arg87Gln)

SNV
Germline

Chr1:155239933

Pathogenic/Likely pathogenic

Gaucher disease
Gaucher disease type I

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003230935 RCV003988098

NM_000157.4(GBA1):c.1215C>A (p.Ser405Arg)

SNV
Germline

Chr1:155236254

Likely pathogenic

Gaucher disease

Criteria Provided
Single Submitter

1 SubmittersRCV003230936

NM_000157.4(GBA1):c.1054T>C (p.Tyr352His)

SNV
Germline

Chr1:155236415

Pathogenic

Gaucher disease

Criteria Provided
Single Submitter

1 SubmittersRCV003331578

NM_000157.4(GBA1):c.776A>G (p.Tyr259Cys)

SNV
Germline

Chr1:155237564

Likely pathogenic

Gaucher disease

Criteria Provided
Single Submitter

1 SubmittersRCV003331970

NM_000157.4(GBA1):c.538G>A (p.Asp180Asn)

SNV
Germline

Chr1:155238567

Likely pathogenic

Gaucher disease type II

Criteria Provided
Single Submitter

1 SubmittersRCV003448938

NM_000157.4(GBA1):c.1193G>A (p.Arg398Gln)

SNV
Germline

Chr1:155236276

Pathogenic/Likely pathogenic

Gaucher disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003479907 RCV003482466