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	Conflicting classifications of pathogenicity; risk factor	Gaucher disease type II Gaucher disease type I Dementia, Lewy body, susceptibility to Gaucher disease type III Parkinson disease, late-onset Gaucher disease Condition: not provided Thoracolumbar scoliosis Movement disorder Resting tremor Hypomimic face Parkinsonian disorder Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease perinatal lethal 7 conditions GBA1-related disorder Lewy body dementia not specified Congenital portosystemic shunt	Criteria Provided Conflicting Classifications	CA116765	rs_421016	40 SubmittersRCV000004509 RCV000004511 RCV000004513 RCV000004510 RCV000004512 RCV000020150 RCV000413257 RCV000626625 RCV001004112 RCV001197164 RCV002476924 RCV003398445 RCV003987311 RCV004018555 RCV006634288
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	Gaucher disease type I Parkinson disease, late-onset Dementia, Lewy body, susceptibility to Condition: not provided Gaucher disease 7 conditions Akinesia Rigidity Parkinson disease Gaucher disease perinatal lethal Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type I Gaucher disease type II Gaucher disease type III Thrombocytopenia Abnormal bleeding Lewy body dementia Lewy body dementia Parkinson disease, late-onset GBA1-related disorder not specified	Criteria Provided Multiple Submitters No Conflicts	CA116767	rs_76763715	47 SubmittersRCV000004515 RCV000004516 RCV000004517 RCV000079336 RCV000396221 RCV000515439 RCV000414782 RCV001195689 RCV001197918 RCV001004117 RCV001270528 RCV002247244 RCV004555830 RCV003982824 RCV004018556
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln)	SNV Germline	Chr1:155238629	Pathogenic/Likely pathogenic	Gaucher disease type I Gaucher disease perinatal lethal Gaucher disease Gaucher disease type III Gaucher disease type I Gaucher disease type II Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Condition: not provided Melanoma	Criteria Provided Multiple Submitters No Conflicts	CA253057	rs_79653797	10 SubmittersRCV000004518 RCV000004519 RCV000020154 RCV001250522 RCV001781178 RCV005887293
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 III Gaucher disease type I Gaucher disease type II 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-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease perinatal lethal Gaucher disease Condition: not provided Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type I Gaucher disease type II Gaucher disease type III 7 conditions Parkinson disease, late-onset not specified	Criteria Provided Multiple Submitters No Conflicts	CA221392	rs_1064651	25 SubmittersRCV000004522 RCV000004523 RCV000004524 RCV000004525 RCV000004526 RCV000055773 RCV000079338 RCV001004114 RCV000762853 RCV001836695 RCV004018557
NM_000157.4(GBA1):c.1343A>T (p.Asp448Val)	SNV Germline	Chr1:155235726	Pathogenic/Likely pathogenic	Gaucher disease type III Gaucher disease Gaucher disease type I	No Assertion Criteria Provided	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 III Parkinson disease, late-onset Gaucher disease type I Gaucher disease Condition: not provided 7 conditions Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type I Gaucher disease type II Gaucher disease type III not specified GBA1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA221394	rs_80356771	21 SubmittersRCV000004529 RCV000004530 RCV000004531 RCV000004528 RCV000020151 RCV000079343 RCV000762852 RCV001004110 RCV004018558 RCV004751200
NM_000157.4(GBA1):c.254G>A (p.Gly85Glu)	SNV Germline	Chr1:155239939	Pathogenic	Gaucher disease type I Gaucher disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253063	rs_77829017	6 SubmittersRCV000004532 RCV000781409 RCV004589496
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-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease Parkinson disease, late-onset 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA253065	rs_74500255	12 SubmittersRCV000004537 RCV000498055 RCV001004127 RCV001248860 RCV001705580 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 Lewy body dementia	Criteria Provided Multiple Submitters No Conflicts	CA221413	rs_381737	12 SubmittersRCV000004540 RCV000004541 RCV000004542 RCV000020158 RCV000790654 RCV002482827 RCV004018559 RCV004820816
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 Condition: not provided 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA253074	rs_76539814	6 SubmittersRCV000004548 RCV000041967 RCV001193934 RCV003137492 RCV002496255
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	Conflicting classifications of pathogenicity	Gaucher disease type I Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA253081	rs_121908301	3 SubmittersRCV000004552 RCV001171764 RCV004689409
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)	SNV Germline	Chr1:155235002	Pathogenic/Likely pathogenic	Gaucher disease type I Gaucher disease 7 conditions Condition: not provided Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type I Gaucher disease type II Gaucher disease type III Parkinson disease, late-onset not specified	Criteria Provided Multiple Submitters No Conflicts	CA234081	rs_75822236	19 SubmittersRCV000004553 RCV000020153 RCV000762851 RCV000790684 RCV001004108 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-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type I Gaucher disease type II Gaucher disease type III 7 conditions Gaucher disease type II	Criteria Provided Multiple Submitters No Conflicts	CA253086	rs_364897	13 SubmittersRCV000004557 RCV000004558 RCV000020156 RCV000723402 RCV001004131 RCV002504742 RCV005089160
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.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 Gaucher disease perinatal lethal 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA221381	rs_121908305	5 SubmittersRCV000004562 RCV000180535 RCV001248922 RCV001197976 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 7 conditions See cases Parkinson disease, late-onset 6 conditions GBA1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA253098	rs_1141814	15 SubmittersRCV000004565 RCV000589792 RCV001507457 RCV002247245 RCV002476927 RCV002251874 RCV004760320 RCV005867722 RCV005867721
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	Pathogenic/Likely pathogenic	Gaucher disease perinatal lethal Condition: not provided Gaucher disease	Criteria Provided Multiple Submitters No Conflicts	CA253105	rs_78198234	4 SubmittersRCV000004569 RCV001781180 RCV006456599
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	8 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 type III Gaucher disease type I Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type II Thrombocytopenia Abnormal bleeding 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 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type I Gaucher disease type II Gaucher disease type III 7 conditions Parkinson disease, late-onset Gaucher disease type I GBA1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA221417	rs_78973108	16 SubmittersRCV000004573 RCV000020159 RCV000079357 RCV001004125 RCV000762855 RCV001836699 RCV003225017 RCV004554584
NM_000157.4(GBA1):c.509G>T (p.Arg170Leu)	SNV Germline	Chr1:155238596	Likely pathogenic	Gaucher disease perinatal lethal Gaucher disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253112	rs_80356763	4 SubmittersRCV000004574 RCV000020155 RCV006461093
NM_000157.4(GBA1):c.354G>C (p.Lys118Asn)	SNV Germline	Chr1:155239716	Pathogenic/Likely pathogenic	Gaucher disease type I Gaucher disease type III Condition: not provided Gaucher disease	Criteria Provided Multiple Submitters No Conflicts	CA221396	rs_121908312	4 SubmittersRCV000004575 RCV000004576 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	CA342710572	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-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease Gaucher disease perinatal lethal Gaucher disease type I not specified GBA1-related disorder	Criteria Provided Conflicting Classifications	CA028590	rs_367968666	17 SubmittersRCV000589369 RCV001004126 RCV001248861 RCV001195955 RCV001329068 RCV002247685 RCV004751398
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn)	SNV Germline	Chr1:155235256	Conflicting classifications of pathogenicity	Parkinson disease, late-onset not specified Gaucher disease Condition: not provided 7 conditions Lewy body dementia	Criteria Provided Conflicting Classifications	CA253118	rs_75671029	9 SubmittersRCV000004582 RCV001174737 RCV001826414 RCV001582465 RCV002490310 RCV005859453
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-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type I Gaucher disease type II Gaucher disease type III	Criteria Provided Multiple Submitters No Conflicts	CA341578	rs_80356772	10 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-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type I Gaucher disease type II Gaucher disease type III 7 conditions Condition: not provided not specified	Criteria Provided Multiple Submitters No Conflicts	CA341581	rs_1064644	9 SubmittersRCV000020157 RCV000625849 RCV001004129 RCV002504814 RCV003237414 RCV004018648
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro)	SNV Germline	Chr1:155235217	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA146980	rs_368060	6 SubmittersRCV000079341 RCV003129772
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)	SNV Germline	Chr1:155236376	Conflicting classifications of pathogenicity; risk factor	not specified Parkinsonian disorder Rigidity Cogwheel rigidity Tremor 6 conditions Parkinsonian disorder Condition: not provided Gaucher disease Gaucher disease perinatal lethal Parkinson disease, late-onset	Criteria Provided Conflicting Classifications	CA275447	rs_2230288	20 SubmittersRCV000252989 RCV000414984 RCV000415387 RCV000415149 RCV000487503 RCV001248923 RCV001509572 RCV001836745
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	10 SubmittersRCV000055774 RCV000179355
NM_000157.4(GBA1):c.1060G>C (p.Asp354His)	SNV Germline	Chr1:155236409	Conflicting classifications of pathogenicity	Condition: not provided not specified Gaucher disease	Criteria Provided Conflicting Classifications	CA221379	rs_398123526	6 SubmittersRCV000180536 RCV000781410 RCV001248921
NM_000157.4(GBA1):c.115+1G>A	SNV Germline	Chr1:155240629	Pathogenic/Likely pathogenic	Gaucher disease Gaucher disease type II Gaucher disease type I 7 conditions Condition: not provided Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Parkinson disease, late-onset not specified Young-onset Parkinson disease Sarcoma Melanoma Clear cell carcinoma of kidney	Criteria Provided Multiple Submitters No Conflicts	CA221383	rs_104886460	22 SubmittersRCV000032094 RCV000004546 RCV000177098 RCV000762856 RCV000790724 RCV001004137 RCV001253701 RCV004019534 RCV005625274 RCV005886261 RCV005886262 RCV005886260
NM_000157.4(GBA1):c.1171G>C (p.Val391Leu)	SNV Germline	Chr1:155236298	Pathogenic/Likely pathogenic	Condition: not provided Gaucher disease Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type I Gaucher disease type II Gaucher disease type III	Criteria Provided Multiple Submitters No Conflicts	CA221384	rs_398123527	4 SubmittersRCV000180534 RCV000781412 RCV001004119
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	18 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 Gaucher disease type I	Criteria Provided Multiple Submitters No Conflicts	CA221390	rs_398123528	5 SubmittersRCV000173717 RCV001174722 RCV001249087
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-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease	Criteria Provided Multiple Submitters No Conflicts	CA221401	rs_398123530	5 SubmittersRCV000179353 RCV001004135 RCV001249029
NM_000157.4(GBA1):c.605G>A (p.Arg202Gln)	SNV Germline	Chr1:155238290	Conflicting classifications of pathogenicity	not specified	Criteria Provided Conflicting Classifications	CA146984	rs_398123531	3 SubmittersRCV000079348
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys)	SNV Germline	Chr1:155238270	Pathogenic/Likely pathogenic	Condition: not provided Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease Gaucher disease type I	Criteria Provided Multiple Submitters No Conflicts	CA221403	rs_398123532	9 SubmittersRCV000179793 RCV001004133 RCV000780284 RCV004698469
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg)	SNV Germline	Chr1:155238228	Conflicting classifications of pathogenicity	Condition: not provided Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease not specified	Criteria Provided Conflicting Classifications	CA221407	rs_61748906	10 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 Gaucher disease type II	Criteria Provided Multiple Submitters No Conflicts	CA221409	rs_381418	6 SubmittersRCV000079353 RCV001004130 RCV001249030 RCV005089540
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)	SNV Germline	Chr1:155238174	Pathogenic	Condition: not provided Gaucher disease Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type I Gaucher disease type II Gaucher disease type III Parkinson disease, late-onset Gaucher disease type I	Criteria Provided Multiple Submitters No Conflicts	CA221411	rs_409652	12 SubmittersRCV000675275 RCV000589250 RCV001004128 RCV002468565 RCV003448261
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	7 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	3 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 Parkinson disease, late-onset Gaucher disease type II	Criteria Provided Multiple Submitters No Conflicts	CA1141476	rs_747506979	7 SubmittersRCV000417294 RCV001175549 RCV001782727 RCV004720248 RCV005090183
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_000157.4(GBA1):c.521A>G (p.Tyr174Cys)	SNV Germline	Chr1:155238584	Conflicting classifications of pathogenicity	Condition: not provided Gaucher disease not specified	Criteria Provided Conflicting Classifications	CA1141727	rs_781152868	3 SubmittersRCV000321615 RCV001249028 RCV004701364
NM_000157.4(GBA1):c.580A>T (p.Lys194Ter)	SNV Germline	Chr1:155238525	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA10603918	rs_886042192	1 SubmittersRCV000388687
NM_000157.4(GBA1):c.860G>T (p.Cys287Phe)	SNV Germline	Chr1:155237480	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16603437	rs_1057524702	1 SubmittersRCV000443344
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-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type II Gaucher disease type III Gaucher disease not specified GBA1-related disorder Gaucher disease type I	Criteria Provided Conflicting Classifications	CA1141619	rs_374306700	7 SubmittersRCV000487271 RCV001004120 RCV001249080 RCV001584196 RCV003419796 RCV005627245
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	Condition: not provided Gaucher disease	Criteria Provided Multiple Submitters No Conflicts	CA342713229	rs_1553217009	3 SubmittersRCV001212081 RCV000589122
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.1348T>A (p.Phe450Ile)	SNV Germline	Chr1:155235721	Pathogenic	Condition: not provided Gaucher disease	Criteria Provided Multiple Submitters No Conflicts	CA342712792	rs_1553216985	2 SubmittersRCV000592466 RCV005240289
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 not specified Colon adenocarcinoma	Criteria Provided Conflicting Classifications	CA1141598	rs_138498426	8 SubmittersRCV000599326 RCV000986425 RCV001563762 RCV001834913 RCV002498876 RCV005240309 RCV005898748
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	CA342719584	rs_1553217626	3 SubmittersRCV000675274 RCV001193933
NM_000157.4(GBA1):c.701G>A (p.Gly234Glu)	SNV Germline	Chr1:155238194	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA30895513	rs_74462743	3 SubmittersRCV000675276
NM_001005741.3(GBA1):c.-68-135A>G	SNV Germline	Chr1:155241315	Conflicting classifications of pathogenicity	Condition: not provided GBA1-related disorder Gaucher disease	Criteria Provided Conflicting Classifications	CA15106608	rs_188978150	4 SubmittersRCV000675277 RCV003918109 RCV005357897
NM_000157.4(GBA1):c.1227C>A (p.Asn409Lys)	SNV Germline	Chr1:155235842	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA342714273	rs_749227753	2 SubmittersRCV000730290
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly)	SNV Germline	Chr1:155237412	Conflicting classifications of pathogenicity	Condition: not provided 7 conditions Parkinson disease, late-onset Gaucher disease	Criteria Provided Conflicting Classifications	CA1141658	rs_1057942	7 SubmittersRCV000733225 RCV002499368 RCV003336163 RCV005367531
NM_000157.4(GBA1):c.1271T>C (p.Leu424Pro)	SNV Germline	Chr1:155235798	Likely pathogenic	Gaucher disease type I	Criteria Provided Single Submitter	CA1141566	rs_772548282	1 SubmittersRCV000761282
NM_000157.4(GBA1):c.1357C>T (p.Gln453Ter)	SNV Germline	Chr1:155235712	Pathogenic	Gaucher disease	Criteria Provided Single Submitter	CA342712665	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	CA1141570	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	CA1141699	rs_773409311	4 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	CA30895567	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	CA1141730	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	CA342720982	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 not specified	Criteria Provided Conflicting Classifications	CA501136	rs_369068553	5 SubmittersRCV000785070 RCV001759479 RCV004782545
NM_000157.4(GBA1):c.999+242C>A	SNV Germline	Chr1:155237099	Pathogenic	Gaucher disease type I	Criteria Provided Single Submitter	CA915941449	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	CA342710805	rs_755265316	2 SubmittersRCV000853241 RCV001784467
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	CA1141823	rs_145773486	3 SubmittersRCV000994120 RCV001563831
NM_000157.4(GBA1):c.1388+2T>C	SNV Unknown	Chr1:155235679	Likely pathogenic	Gaucher disease type I	No Assertion Criteria Provided	CA342712209	rs_1571965880	1 SubmittersRCV002290982
NM_000157.4(GBA1):c.1174C>T (p.Arg392Trp)	SNV Germline	Chr1:155236295	Pathogenic/Likely pathogenic	Gaucher disease type I Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type II Gaucher disease type III Gaucher disease perinatal lethal Gaucher disease type I Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type II Gaucher disease type III Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342715091	rs_121908308	3 SubmittersRCV001004118 RCV004796344 RCV006464963
NM_000157.4(GBA1):c.970C>T (p.Arg324Cys)	SNV Germline	Chr1:155237370	Conflicting classifications of pathogenicity	Gaucher disease type I Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type II Gaucher disease type III Gaucher disease Condition: not provided	Criteria Provided Conflicting Classifications	CA1141652	rs_765633380	4 SubmittersRCV001004121 RCV001797810 RCV003132137
NM_000157.4(GBA1):c.946C>T (p.Arg316Cys)	SNV Germline	Chr1:155237394	Conflicting classifications of pathogenicity	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease type I Gaucher disease type II Gaucher disease type III not specified Parkinson disease, late-onset Condition: not provided	Criteria Provided Conflicting Classifications	CA342718881	rs_1264734195	5 SubmittersRCV001004122 RCV001805970 RCV001836930 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	CA30895320	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	CA1141663	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	CA1141729	rs_80356763	2 SubmittersRCV001004134 RCV002282424
NM_000157.4(GBA1):c.485T>A (p.Met162Lys)	SNV Germline	Chr1:155238620	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA342724678	rs_794727783	1 SubmittersRCV001091726
NM_000157.4(GBA1):c.1599G>A (p.Trp533Ter)	SNV Germline	Chr1:155235007	Pathogenic	Gaucher disease type I Gaucher disease	Criteria Provided Single Submitter	CA342709633	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	CA342713817	rs_1671711470	1 SubmittersRCV001175548
NM_000157.4(GBA1):c.1184C>T (p.Ser395Phe)	SNV Germline	Chr1:155236285	Pathogenic	Condition: not provided Gaucher disease Gaucher disease type I not specified	Criteria Provided Multiple Submitters No Conflicts	CA1141604	rs_760307559	4 SubmittersRCV001784667 RCV001175547 RCV003479285 RCV004032984
NM_000157.4(GBA1):c.706C>T (p.Leu236Phe)	SNV Germline	Chr1:155238189	Conflicting classifications of pathogenicity	not specified Gaucher disease Condition: not provided	Criteria Provided Conflicting Classifications	CA342721857	rs_1671865905	3 SubmittersRCV001193937 RCV001833750 RCV001751354
NM_000157.4(GBA1):c.689T>G (p.Val230Gly)	SNV Germline	Chr1:155238206	Pathogenic	Gaucher disease	Criteria Provided Single Submitter	CA1141704	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	CA30894500	rs_76910485	2 SubmittersRCV001198752 RCV001863130
NM_000157.4(GBA1):c.894C>A (p.Phe298Leu)	SNV Germline	Chr1:155237446	Likely pathogenic	Gaucher disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342719512	rs_1671825414	3 SubmittersRCV001199909 RCV004720083
NM_000157.4(GBA1):c.661C>A (p.Pro221Thr)	SNV Germline	Chr1:155238234	Pathogenic/Likely pathogenic	Gaucher disease Condition: not provided 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA30895561	rs_866075757	3 SubmittersRCV001199857 RCV004590216 RCV002497680
NM_000157.4(GBA1):c.1238A>C (p.His413Pro)	SNV Germline	Chr1:155235831	Likely pathogenic	Gaucher disease type I	No Assertion Criteria Provided	CA342714144	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	CA342714645	rs_1392291885	1 SubmittersRCV001200045
NM_000157.4(GBA1):c.1534A>T (p.Lys512Ter)	SNV Germline	Chr1:155235072	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA342710190	rs_1671660634	2 SubmittersRCV001251331 RCV001266631
NM_000157.4(GBA1):c.108G>A (p.Trp36Ter)	SNV Germline	Chr1:155240637	Pathogenic	Gaucher disease	Criteria Provided Single Submitter	CA1141857	rs_777383151	2 SubmittersRCV001251352
NM_000157.4(GBA1):c.334C>T (p.Gln112Ter)	SNV Germline	Chr1:155239736	Pathogenic	Gaucher disease	Criteria Provided Single Submitter	CA342726461	rs_1671974195	1 SubmittersRCV001264492
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	CA342722534	rs_1671872221	5 SubmittersRCV001290586 RCV001566455 RCV001836981
NM_000157.4(GBA1):c.1388+1G>A	SNV Germline	Chr1:155235680	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA342712215	rs_1671699033	1 SubmittersRCV001783348
NM_000157.4(GBA1):c.914C>T (p.Pro305Leu)	SNV Unknown	Chr1:155237426	Likely pathogenic	Gaucher disease type I	Criteria Provided Single Submitter	CA342719286	rs_79215220	1 SubmittersRCV001376104
NM_000157.4(GBA1):c.604C>T (p.Arg202Ter)	SNV Germline	Chr1:155238291	Pathogenic/Likely pathogenic	Gaucher disease Condition: not provided Parkinson disease, late-onset 7 conditions GBA1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA30895591	rs_1009850780	9 SubmittersRCV001732184 RCV001780385 RCV001837003 RCV004796635 RCV003416342
NM_000157.4(GBA1):c.593C>T (p.Pro198Leu)	SNV Germline	Chr1:155238302	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA30895608	rs_80222298	4 SubmittersRCV001507456 RCV004587170
NM_000157.4(GBA1):c.1240G>C (p.Val414Leu)	SNV Germline	Chr1:155235829	Pathogenic/Likely pathogenic	Condition: not provided Gaucher disease	Criteria Provided Multiple Submitters No Conflicts	CA342714108	rs_398123528	3 SubmittersRCV001531641 RCV004699411
NM_000157.4(GBA1):c.1506-12C>T	SNV Germline	Chr1:155235112	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA1141496	rs_368832292	2 SubmittersRCV001532957 RCV001587464
NM_000157.4(GBA1):c.1255G>A (p.Asp419Asn)	SNV Germline	Chr1:155235814	Likely pathogenic	Gaucher disease type I GBA1-related disorder	Criteria Provided Single Submitter	CA342713897	rs_1671712475	2 SubmittersRCV001542262 RCV004752008
NM_000157.4(GBA1):c.1455A>G (p.Ala485=)	SNV Germline	Chr1:155235245	Conflicting classifications of pathogenicity	Gaucher disease type II Gaucher disease type I Gaucher disease type I Gaucher disease type II Gaucher disease type III Gaucher disease perinatal lethal Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA1141524	rs_199928507	5 SubmittersRCV001563830 RCV001563829 RCV004720312 RCV006439000 RCV004917724
NM_000157.4(GBA1):c.1249T>G (p.Trp417Gly)	SNV Germline	Chr1:155235820	Pathogenic/Likely pathogenic	Condition: not provided Gaucher disease 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA342713973	rs_1450426641	4 SubmittersRCV001583104 RCV001827516 RCV002488413
NM_000157.4(GBA1):c.518C>A (p.Thr173Asn)	SNV Germline	Chr1:155238587	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA342724310	rs_78657146	1 SubmittersRCV001580831
NM_000157.4(GBA1):c.1088T>C (p.Leu363Pro)	SNV Germline	Chr1:155236381	Likely pathogenic	Condition: not provided Gaucher disease	Criteria Provided Single Submitter	CA342716963	rs_1178732315	3 SubmittersRCV001723303 RCV004587196
NM_000157.4(GBA1):c.901C>T (p.Arg301Cys)	SNV Germline	Chr1:155237439	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA1141665	rs_374117599	2 SubmittersRCV001763007
NM_000157.4(GBA1):c.1312G>C (p.Asp438His)	SNV Germline	Chr1:155235757	Likely pathogenic	Parkinson disease, late-onset	No Assertion Criteria Provided	CA342713226	rs_1553217009	1 SubmittersRCV001771807
NM_000157.4(GBA1):c.256C>T (p.Arg86Ter)	SNV Germline	Chr1:155239937	Pathogenic	Gaucher disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342727218	rs_1671987417	2 SubmittersRCV001779515 RCV006467940
NM_000157.4(GBA1):c.695G>A (p.Gly232Glu)	SNV Germline	Chr1:155238200	Conflicting classifications of pathogenicity	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA342722010	rs_1376479747	3 SubmittersRCV001808963 RCV004719175
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	CA1141731	rs_746019841	3 SubmittersRCV001823570 RCV002282581 RCV003146246
NM_000157.4(GBA1):c.761+4A>G	SNV Germline	Chr1:155238130	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA2573130588	rs_2148076506	1 SubmittersRCV002211107
NM_000157.4(GBA1):c.1225-3T>C	SNV Germline	Chr1:155235847	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA1141574	rs_377143075	3 SubmittersRCV002224929
NM_000157.4(GBA1):c.454+1G>A	SNV Germline	Chr1:155239615	Conflicting classifications of pathogenicity	Gaucher disease Lewy body dementia Gaucher disease type I	Criteria Provided Conflicting Classifications	CA1141755	rs_539166948	3 SubmittersRCV002238585 RCV004785537 RCV005627256
NM_000157.4(GBA1):c.1537G>A (p.Asp513Asn)	SNV Germline	Chr1:155235069	Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342710104	rs_2148069969	2 SubmittersRCV002254503
NM_000157.4(GBA1):c.816A>C (p.Glu272Asp)	SNV Germline	Chr1:155237524	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA342720383	rs_2148075570	2 SubmittersRCV002254507
NM_000157.4(GBA1):c.1505+2T>A	SNV Germline	Chr1:155235193	Likely pathogenic	Gaucher disease	Criteria Provided Single Submitter	CA342710731	rs_2148070287	2 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	CA1141733	rs_377325220	3 SubmittersRCV002282765 RCV003230742 RCV003146532
NM_000157.4(GBA1):c.1361C>T (p.Pro454Leu)	SNV Germline	Chr1:155235708	Pathogenic	Lewy body dementia	No Assertion Criteria Provided	CA342712599	rs_121908295	1 SubmittersRCV003224821
NM_000157.4(GBA1):c.1214G>A (p.Ser405Asn)	SNV Germline	Chr1:155236255	Conflicting classifications of pathogenicity	Gaucher disease Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA342714644	rs_1392291885	3 SubmittersRCV003388120 RCV004823038 RCV004066487
NM_000157.4(GBA1):c.517A>G (p.Thr173Ala)	SNV Germline	Chr1:155238588	Likely pathogenic	not specified	Criteria Provided Single Submitter	CA342724314	rs_1441909908	1 SubmittersRCV004066491
NM_000157.4(GBA1):c.364G>C (p.Gly122Arg)	SNV Germline	Chr1:155239706	Likely pathogenic	not specified	Criteria Provided Single Submitter	CA342726268	rs_2524844959	1 SubmittersRCV004066564
NM_000157.4(GBA1):c.845G>A (p.Gly282Glu)	SNV Germline	Chr1:155237495	Likely pathogenic	not specified	Criteria Provided Single Submitter	CA342720095	rs_2524831565	1 SubmittersRCV004067442
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	CA30896586	rs_1141802	2 SubmittersRCV004091313 RCV004560069
NM_000157.4(GBA1):c.1300C>T (p.Arg434Cys)	SNV Germline	Chr1:155235769	Likely pathogenic	Gaucher disease Gaucher disease type I Parkinson disease, late-onset	Criteria Provided Multiple Submitters No Conflicts	CA342713359	rs_747284798	3 SubmittersRCV003123406 RCV005627259 RCV005870093
NM_000157.4(GBA1):c.1260G>A (p.Trp420Ter)	SNV Germline	Chr1:155235809	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA342713813	rs_2524820366	1 SubmittersRCV003138827
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	CA1141672	rs_755512507	2 SubmittersRCV003135334 RCV004579610
NM_000157.4(GBA1):c.479T>C (p.Val160Ala)	SNV Germline	Chr1:155238626	Conflicting classifications of pathogenicity	Condition: not provided Gaucher disease type I	Criteria Provided Conflicting Classifications	CA342724725	rs_2524839442	2 SubmittersRCV003130999 RCV005433358
NM_000157.4(GBA1):c.1162G>A (p.Glu388Lys)	SNV Germline	Chr1:155236307	Likely pathogenic	Condition: not provided GBA1-related disorder	Criteria Provided Single Submitter	CA342715231	rs_1161552095	2 SubmittersRCV003145796 RCV004750868
NM_000157.4(GBA1):c.113C>G (p.Ser38Ter)	SNV Germline	Chr1:155240632	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA342729521	rs_2524851054	1 SubmittersRCV003145804
NM_000157.4(GBA1):c.896T>A (p.Ile299Asn)	SNV Unknown	Chr1:155237444	Likely pathogenic	Parkinson disease, late-onset	Criteria Provided Single Submitter	CA342719496	rs_794727908	1 SubmittersRCV003225714
NM_000157.4(GBA1):c.847T>C (p.Tyr283His)	SNV Germline	Chr1:155237493	Likely pathogenic	Gaucher disease	Criteria Provided Single Submitter	CA1141668	rs_750777791	1 SubmittersRCV003226690
NM_000157.4(GBA1):c.260G>A (p.Arg87Gln)	SNV Germline	Chr1:155239933	Pathogenic	Gaucher disease Gaucher disease type I	Criteria Provided Multiple Submitters No Conflicts	CA30896518	rs_78769774	2 SubmittersRCV003230935 RCV003988098
NM_000157.4(GBA1):c.1215C>A (p.Ser405Arg)	SNV Germline	Chr1:155236254	Likely pathogenic	Gaucher disease	Criteria Provided Single Submitter	CA30894739	rs_75528494	1 SubmittersRCV003230936
NM_000157.4(GBA1):c.1505+2T>C	SNV Germline	Chr1:155235193	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA342710725	rs_2148070287	1 SubmittersRCV003328045
NM_000157.4(GBA1):c.212C>T (p.Pro71Leu)	SNV Germline	Chr1:155239981	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA342727597	rs_2524847096	1 SubmittersRCV003328056
NM_000157.4(GBA1):c.1054T>C (p.Tyr352His)	SNV Germline	Chr1:155236415	Pathogenic	Gaucher disease	Criteria Provided Single Submitter	CA342717552	rs_2148073370	1 SubmittersRCV003331578
NM_000157.4(GBA1):c.776A>G (p.Tyr259Cys)	SNV Germline	Chr1:155237564	Likely pathogenic	Gaucher disease Gaucher disease type I	Criteria Provided Single Submitter	CA342720858	rs_749014188	2 SubmittersRCV003331970 RCV005627260
NM_000157.4(GBA1):c.907C>A (p.Leu303Ile)	SNV Germline	Chr1:155237433	Conflicting classifications of pathogenicity	Gaucher disease type I 7 conditions	Criteria Provided Conflicting Classifications	CA342719357	rs_1296507371	3 SubmittersRCV003389033 RCV004819251
NM_000157.4(GBA1):c.538G>A (p.Asp180Asn)	SNV Germline	Chr1:155238567	Likely pathogenic	Gaucher disease type II	Criteria Provided Single Submitter	CA342724120	rs_1285705042	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	CA30894764	rs_74979486	3 SubmittersRCV003479907 RCV003482466
NM_000157.4(GBA1):c.1138G>A (p.Ala380Thr)	SNV Germline	Chr1:155236331	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA1141612	rs_781306264	2 SubmittersRCV003489366 RCV005240789
NM_000157.4(GBA1):c.1236C>A (p.Tyr412Ter)	SNV Germline	Chr1:155235833	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA342714180	rs_2524820658	1 SubmittersRCV003489367
NM_000157.4(GBA1):c.1312G>T (p.Asp438Tyr)	SNV Germline	Chr1:155235757	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA342713235	rs_1553217009	1 SubmittersRCV003489368
NM_000157.4(GBA1):c.820G>A (p.Glu274Lys)	SNV Germline	Chr1:155237520	Pathogenic	not specified	Criteria Provided Single Submitter	CA342720368	rs_2524831647	1 SubmittersRCV003988797
NM_000157.4(GBA1):c.1292A>G (p.Asn431Ser)	SNV Germline	Chr1:155235777	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_77738682	1 SubmittersRCV004575081
NM_000157.4(GBA1):c.1028A>G (p.Tyr343Cys)	SNV Germline	Chr1:155236441	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_77321207	1 SubmittersRCV004575351
NM_000157.4(GBA1):c.680A>T (p.Asn227Ile)	SNV Germline	Chr1:155238215	Pathogenic	Gaucher disease	Criteria Provided Single Submitter		rs_364897	1 SubmittersRCV004587771
NM_000157.4(GBA1):c.1193G>T (p.Arg398Leu)	SNV Germline	Chr1:155236276	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004598924
NM_000157.4(GBA1):c.498C>A (p.Asp166Glu)	SNV Germline	Chr1:155238607	Likely pathogenic	GBA1-related disorder	No Assertion Criteria Provided			1 SubmittersRCV004752378
NM_000157.4(GBA1):c.622C>T (p.Gln208Ter)	SNV Germline	Chr1:155238273	Pathogenic	Gaucher disease type I	Criteria Provided Single Submitter			1 SubmittersRCV004796582
NM_000157.4(GBA1):c.160G>A (p.Val54Met)	SNV Germline	Chr1:155240033	Pathogenic	Gaucher disease type I	Criteria Provided Single Submitter			1 SubmittersRCV004798133
NM_000157.4(GBA1):c.1256A>C (p.Asp419Ala)	SNV Germline	Chr1:155235813	Likely pathogenic	Gaucher disease	Criteria Provided Single Submitter			1 SubmittersRCV004799875
NM_000157.4(GBA1):c.1193G>C (p.Arg398Pro)	SNV Germline	Chr1:155236276	Pathogenic	Gaucher disease	Criteria Provided Single Submitter			1 SubmittersRCV004800933
NM_000157.4(GBA1):c.1393T>G (p.Phe465Val)	SNV Germline	Chr1:155235307	Likely pathogenic	Lewy body dementia	Criteria Provided Single Submitter			1 SubmittersRCV004821010
NM_000157.4(GBA1):c.187G>A (p.Asp63Asn)	SNV Germline	Chr1:155240006	Likely pathogenic	Gaucher disease	Criteria Provided Single Submitter			1 SubmittersRCV005238630
NM_000157.4(GBA1):c.1165C>T (p.Gln389Ter)	SNV Germline	Chr1:155236304	Pathogenic/Likely pathogenic	Gaucher disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005239854 RCV005632892
NM_000157.4(GBA1):c.1331A>T (p.Asp444Val)	SNV Germline	Chr1:155235738	Likely pathogenic	Gaucher disease	Criteria Provided Single Submitter			1 SubmittersRCV005239981
NM_000157.4(GBA1):c.971G>C (p.Arg324Pro)	SNV Germline	Chr1:155237369	Likely pathogenic	Gaucher disease	No Assertion Criteria Provided			1 SubmittersRCV005613987
NM_000157.4(GBA1):c.1161G>A (p.Trp387Ter)	SNV Germline	Chr1:155236308	Likely pathogenic	Gaucher disease	No Assertion Criteria Provided			1 SubmittersRCV005614003
NM_000157.4(GBA1):c.1246G>T (p.Gly416Cys)	SNV Germline	Chr1:155235823	Likely pathogenic	Gaucher disease	No Assertion Criteria Provided			1 SubmittersRCV005614005
NM_000157.4(GBA1):c.1000-2A>G	SNV Germline	Chr1:155236471	Likely pathogenic	Gaucher disease	No Assertion Criteria Provided			1 SubmittersRCV005614008
NM_000157.4(GBA1):c.762-1G>T	SNV Germline	Chr1:155237579	Pathogenic	Gaucher disease	No Assertion Criteria Provided			1 SubmittersRCV005614020
NM_000157.4(GBA1):c.1060G>A (p.Asp354Asn)	SNV Germline	Chr1:155236409	Likely pathogenic	Gaucher disease	No Assertion Criteria Provided			1 SubmittersRCV005614033
NM_000157.4(GBA1):c.1224+1G>C	SNV Germline	Chr1:155236244	Likely pathogenic	Gaucher disease	No Assertion Criteria Provided			1 SubmittersRCV005614034
NM_000157.4(GBA1):c.1435C>T (p.Gln479Ter)	SNV Germline	Chr1:155235265	Likely pathogenic	Gaucher disease	No Assertion Criteria Provided			1 SubmittersRCV005613944
NM_000157.4(GBA1):c.1309G>A (p.Val437Ile)	SNV Germline	Chr1:155235760	Likely pathogenic	Gaucher disease type I	No Assertion Criteria Provided			1 SubmittersRCV005627296
NM_000157.4(GBA1):c.1583T>C (p.Ile528Thr)	SNV Germline	Chr1:155235023	Likely pathogenic	Gaucher disease type I	No Assertion Criteria Provided			1 SubmittersRCV005627298
NM_000157.4(GBA1):c.220G>A (p.Gly74Ser)	SNV Germline	Chr1:155239973	Likely pathogenic	Gaucher disease type I	No Assertion Criteria Provided			1 SubmittersRCV005627302
NM_000157.4(GBA1):c.448G>A (p.Glu150Lys)	SNV Germline	Chr1:155239622	Likely pathogenic	Gaucher disease type I	No Assertion Criteria Provided			1 SubmittersRCV005627303
NM_000157.4(GBA1):c.746C>T (p.Ala249Val)	SNV Germline	Chr1:155238149	Likely pathogenic	Gaucher disease type I	No Assertion Criteria Provided			1 SubmittersRCV005627304
NM_000157.4(GBA1):c.1589C>T (p.Thr530Ile)	SNV Germline	Chr1:155235017	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005636431
NM_000157.4(GBA1):c.245C>T (p.Thr82Ile)	SNV Germline	Chr1:155239948	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005635781
NM_000157.4(GBA1):c.1148G>A (p.Gly383Asp)	SNV Germline	Chr1:155236321	Conflicting classifications of pathogenicity	Condition: not provided Gaucher disease type I	Criteria Provided Conflicting Classifications			2 SubmittersRCV005634256 RCV006484876
NM_000157.4(GBA1):c.1162G>T (p.Glu388Ter)	SNV Germline	Chr1:155236307	Likely pathogenic	6 conditions	Criteria Provided Single Submitter			1 SubmittersRCV006255097
NM_000157.4(GBA1):c.1389-2A>G	SNV Germline	Chr1:155235313	Pathogenic	Gaucher disease	Criteria Provided Single Submitter			1 SubmittersRCV006268611
NM_000157.4(GBA1):c.518C>T (p.Thr173Ile)	SNV Germline	Chr1:155238587	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006534033

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

SNV
Germline

Chr1:155235252

Conflicting classifications of pathogenicity; risk factor

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

Criteria Provided
Conflicting Classifications

CA116765

rs_421016

40 SubmittersRCV000004509 RCV000004511 RCV000004513 RCV000004510 RCV000004512 RCV000020150 RCV000413257 RCV000626625 RCV001004112 RCV001197164 RCV002476924 RCV003398445 RCV003987311 RCV004018555 RCV006634288

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116767

rs_76763715

47 SubmittersRCV000004515 RCV000004516 RCV000004517 RCV000079336 RCV000396221 RCV000515439 RCV000414782 RCV001195689 RCV001197918 RCV001004117 RCV001270528 RCV002247244 RCV004555830 RCV003982824 RCV004018556

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

SNV
Germline

Chr1:155238629

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA253057

rs_79653797

10 SubmittersRCV000004518 RCV000004519 RCV000020154 RCV001250522 RCV001781178 RCV005887293

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

Criteria Provided
Multiple Submitters
No Conflicts

CA221392

rs_1064651

25 SubmittersRCV000004522 RCV000004523 RCV000004524 RCV000004525 RCV000004526 RCV000055773 RCV000079338 RCV001004114 RCV000762853 RCV001836695 RCV004018557

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

SNV
Germline

Chr1:155235726

Pathogenic/Likely pathogenic

Gaucher disease type III
Gaucher disease
Gaucher disease type I

No Assertion Criteria Provided

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

Criteria Provided
Multiple Submitters
No Conflicts

CA221394

rs_80356771

21 SubmittersRCV000004529 RCV000004530 RCV000004531 RCV000004528 RCV000020151 RCV000079343 RCV000762852 RCV001004110 RCV004018558 RCV004751200

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

SNV
Germline

Chr1:155239939

Pathogenic

Gaucher disease type I
Gaucher disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253063

rs_77829017

6 SubmittersRCV000004532 RCV000781409 RCV004589496

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-ophthalmoplegia-cardiovascular calcification syndrome
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease
Parkinson disease, late-onset
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA253065

rs_74500255

12 SubmittersRCV000004537 RCV000498055 RCV001004127 RCV001248860 RCV001705580 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
Lewy body dementia

Criteria Provided
Multiple Submitters
No Conflicts

CA221413

rs_381737

12 SubmittersRCV000004540 RCV000004541 RCV000004542 RCV000020158 RCV000790654 RCV002482827 RCV004018559 RCV004820816

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
Condition: not provided
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA253074

rs_76539814

6 SubmittersRCV000004548 RCV000041967 RCV001193934 RCV003137492 RCV002496255

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

Conflicting classifications of pathogenicity

Gaucher disease type I
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA253081

rs_121908301

3 SubmittersRCV000004552 RCV001171764 RCV004689409

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

SNV
Germline

Chr1:155235002

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA234081

rs_75822236

19 SubmittersRCV000004553 RCV000020153 RCV000762851 RCV000790684 RCV001004108 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-ophthalmoplegia-cardiovascular calcification syndrome
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
7 conditions
Gaucher disease type II

Criteria Provided
Multiple Submitters
No Conflicts

CA253086

rs_364897

13 SubmittersRCV000004557 RCV000004558 RCV000020156 RCV000723402 RCV001004131 RCV002504742 RCV005089160

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.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
Gaucher disease perinatal lethal
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA221381

rs_121908305

5 SubmittersRCV000004562 RCV000180535 RCV001248922 RCV001197976 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
7 conditions
See cases
Parkinson disease, late-onset
6 conditions
GBA1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA253098

rs_1141814

15 SubmittersRCV000004565 RCV000589792 RCV001507457 RCV002247245 RCV002476927 RCV002251874 RCV004760320 RCV005867722 RCV005867721

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

Pathogenic/Likely pathogenic

Gaucher disease perinatal lethal
Condition: not provided
Gaucher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA253105

rs_78198234

4 SubmittersRCV000004569 RCV001781180 RCV006456599

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

8 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 type III
Gaucher disease type I
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gaucher disease type II
Thrombocytopenia
Abnormal bleeding
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
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
7 conditions
Parkinson disease, late-onset
Gaucher disease type I
GBA1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA221417

rs_78973108

16 SubmittersRCV000004573 RCV000020159 RCV000079357 RCV001004125 RCV000762855 RCV001836699 RCV003225017 RCV004554584

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

SNV
Germline

Chr1:155238596

Likely pathogenic

Gaucher disease perinatal lethal
Gaucher disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253112

rs_80356763

4 SubmittersRCV000004574 RCV000020155 RCV006461093

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

SNV
Germline

Chr1:155239716

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA221396

rs_121908312

4 SubmittersRCV000004575 RCV000004576 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

CA342710572

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-ophthalmoplegia-cardiovascular calcification syndrome
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease
Gaucher disease perinatal lethal
Gaucher disease type I
not specified
GBA1-related disorder

Criteria Provided
Conflicting Classifications

CA028590

rs_367968666

17 SubmittersRCV000589369 RCV001004126 RCV001248861 RCV001195955 RCV001329068 RCV002247685 RCV004751398

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

SNV
Germline

Chr1:155235256

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA253118

rs_75671029

9 SubmittersRCV000004582 RCV001174737 RCV001826414 RCV001582465 RCV002490310 RCV005859453

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

Criteria Provided
Multiple Submitters
No Conflicts

CA341578

rs_80356772

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

Criteria Provided
Multiple Submitters
No Conflicts

CA341581

rs_1064644

9 SubmittersRCV000020157 RCV000625849 RCV001004129 RCV002504814 RCV003237414 RCV004018648

NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro)

SNV
Germline

Chr1:155235217

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA146980

rs_368060

6 SubmittersRCV000079341 RCV003129772

NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)

SNV
Germline

Chr1:155236376

Conflicting classifications of pathogenicity; risk factor

not specified
Parkinsonian disorder
Rigidity
Cogwheel rigidity
Tremor
6 conditions
Parkinsonian disorder
Condition: not provided
Gaucher disease
Gaucher disease perinatal lethal
Parkinson disease, late-onset

Criteria Provided
Conflicting Classifications

CA275447

rs_2230288

20 SubmittersRCV000252989 RCV000414984 RCV000415387 RCV000415149 RCV000487503 RCV001248923 RCV001509572 RCV001836745

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

10 SubmittersRCV000055774 RCV000179355

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

SNV
Germline

Chr1:155236409

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Gaucher disease

Criteria Provided
Conflicting Classifications

CA221379

rs_398123526

6 SubmittersRCV000180536 RCV000781410 RCV001248921

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

SNV
Germline

Chr1:155240629

Pathogenic/Likely pathogenic

Gaucher disease
Gaucher disease type II
Gaucher disease type I
7 conditions
Condition: not provided
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Parkinson disease, late-onset
not specified
Young-onset Parkinson disease
Sarcoma
Melanoma
Clear cell carcinoma of kidney

Criteria Provided
Multiple Submitters
No Conflicts

CA221383

rs_104886460

22 SubmittersRCV000032094 RCV000004546 RCV000177098 RCV000762856 RCV000790724 RCV001004137 RCV001253701 RCV004019534 RCV005625274 RCV005886261 RCV005886262 RCV005886260

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

SNV
Germline

Chr1:155236298

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA221384

rs_398123527

4 SubmittersRCV000180534 RCV000781412 RCV001004119

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

18 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
Gaucher disease type I

Criteria Provided
Multiple Submitters
No Conflicts

CA221390

rs_398123528

5 SubmittersRCV000173717 RCV001174722 RCV001249087

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

Criteria Provided
Multiple Submitters
No Conflicts

CA221401

rs_398123530

5 SubmittersRCV000179353 RCV001004135 RCV001249029

NM_000157.4(GBA1):c.605G>A (p.Arg202Gln)

SNV
Germline

Chr1:155238290

Conflicting classifications of pathogenicity

not specified

Criteria Provided
Conflicting Classifications

CA146984

rs_398123531

3 SubmittersRCV000079348

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

SNV
Germline

Chr1:155238270

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA221403

rs_398123532

9 SubmittersRCV000179793 RCV001004133 RCV000780284 RCV004698469

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

SNV
Germline

Chr1:155238228

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA221407

rs_61748906

10 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
Gaucher disease type II

Criteria Provided
Multiple Submitters
No Conflicts

CA221409

rs_381418

6 SubmittersRCV000079353 RCV001004130 RCV001249030 RCV005089540

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

SNV
Germline

Chr1:155238174

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA221411

rs_409652

12 SubmittersRCV000675275 RCV000589250 RCV001004128 RCV002468565 RCV003448261

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

7 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

3 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
Parkinson disease, late-onset
Gaucher disease type II

Criteria Provided
Multiple Submitters
No Conflicts

CA1141476

rs_747506979

7 SubmittersRCV000417294 RCV001175549 RCV001782727 RCV004720248 RCV005090183

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_000157.4(GBA1):c.521A>G (p.Tyr174Cys)

SNV
Germline

Chr1:155238584

Conflicting classifications of pathogenicity

Condition: not provided
Gaucher disease
not specified

Criteria Provided
Conflicting Classifications

CA1141727

rs_781152868

3 SubmittersRCV000321615 RCV001249028 RCV004701364

NM_000157.4(GBA1):c.580A>T (p.Lys194Ter)

SNV
Germline

Chr1:155238525

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA10603918

rs_886042192

1 SubmittersRCV000388687

NM_000157.4(GBA1):c.860G>T (p.Cys287Phe)

SNV
Germline

Chr1:155237480

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16603437

rs_1057524702

1 SubmittersRCV000443344

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

Criteria Provided
Conflicting Classifications

CA1141619

rs_374306700

7 SubmittersRCV000487271 RCV001004120 RCV001249080 RCV001584196 RCV003419796 RCV005627245

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

Condition: not provided
Gaucher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA342713229

rs_1553217009

3 SubmittersRCV001212081 RCV000589122

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.1348T>A (p.Phe450Ile)

SNV
Germline

Chr1:155235721

Pathogenic

Condition: not provided
Gaucher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA342712792

rs_1553216985

2 SubmittersRCV000592466 RCV005240289

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
not specified
Colon adenocarcinoma

Criteria Provided
Conflicting Classifications

CA1141598

rs_138498426

8 SubmittersRCV000599326 RCV000986425 RCV001563762 RCV001834913 RCV002498876 RCV005240309 RCV005898748

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

CA342719584

rs_1553217626

3 SubmittersRCV000675274 RCV001193933

NM_000157.4(GBA1):c.701G>A (p.Gly234Glu)

SNV
Germline

Chr1:155238194

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA30895513

rs_74462743

3 SubmittersRCV000675276

NM_001005741.3(GBA1):c.-68-135A>G

SNV
Germline

Chr1:155241315

Conflicting classifications of pathogenicity

Condition: not provided
GBA1-related disorder
Gaucher disease

Criteria Provided
Conflicting Classifications

CA15106608

rs_188978150

4 SubmittersRCV000675277 RCV003918109 RCV005357897

NM_000157.4(GBA1):c.1227C>A (p.Asn409Lys)

SNV
Germline

Chr1:155235842

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA342714273

rs_749227753

2 SubmittersRCV000730290

NM_000157.4(GBA1):c.928A>G (p.Ser310Gly)

SNV
Germline

Chr1:155237412

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1141658

rs_1057942

7 SubmittersRCV000733225 RCV002499368 RCV003336163 RCV005367531

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

SNV
Germline

Chr1:155235798

Likely pathogenic

Gaucher disease type I

Criteria Provided
Single Submitter

CA1141566

rs_772548282

1 SubmittersRCV000761282

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

SNV
Germline

Chr1:155235712

Pathogenic

Gaucher disease

Criteria Provided
Single Submitter

CA342712665

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

CA1141570

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

CA1141699

rs_773409311

4 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

CA30895567

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

CA1141730

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

CA342720982

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
not specified

Criteria Provided
Conflicting Classifications

CA501136

rs_369068553

5 SubmittersRCV000785070 RCV001759479 RCV004782545

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

SNV
Germline

Chr1:155237099

Pathogenic

Gaucher disease type I

Criteria Provided
Single Submitter

CA915941449

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

CA342710805

rs_755265316

2 SubmittersRCV000853241 RCV001784467

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

CA1141823

rs_145773486

3 SubmittersRCV000994120 RCV001563831

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

SNV
Unknown

Chr1:155235679

Likely pathogenic

Gaucher disease type I

No Assertion Criteria Provided

CA342712209

rs_1571965880

1 SubmittersRCV002290982

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

SNV
Germline

Chr1:155236295

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA342715091

rs_121908308

3 SubmittersRCV001004118 RCV004796344 RCV006464963

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

SNV
Germline

Chr1:155237370

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1141652

rs_765633380

4 SubmittersRCV001004121 RCV001797810 RCV003132137

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

SNV
Germline

Chr1:155237394

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA342718881

rs_1264734195

5 SubmittersRCV001004122 RCV001805970 RCV001836930 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

CA30895320

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

CA1141663

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

CA1141729

rs_80356763

2 SubmittersRCV001004134 RCV002282424

NM_000157.4(GBA1):c.485T>A (p.Met162Lys)

SNV
Germline

Chr1:155238620

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA342724678

rs_794727783

1 SubmittersRCV001091726

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

SNV
Germline

Chr1:155235007

Pathogenic

Gaucher disease type I
Gaucher disease

Criteria Provided
Single Submitter

CA342709633

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

CA342713817

rs_1671711470

1 SubmittersRCV001175548

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

SNV
Germline

Chr1:155236285

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1141604

rs_760307559

4 SubmittersRCV001784667 RCV001175547 RCV003479285 RCV004032984

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

SNV
Germline

Chr1:155238189

Conflicting classifications of pathogenicity

not specified
Gaucher disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342721857

rs_1671865905

3 SubmittersRCV001193937 RCV001833750 RCV001751354

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

SNV
Germline

Chr1:155238206

Pathogenic

Gaucher disease

Criteria Provided
Single Submitter

CA1141704

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

CA30894500

rs_76910485

2 SubmittersRCV001198752 RCV001863130

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

SNV
Germline

Chr1:155237446

Likely pathogenic

Gaucher disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342719512

rs_1671825414

3 SubmittersRCV001199909 RCV004720083

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

SNV
Germline

Chr1:155238234

Pathogenic/Likely pathogenic

Gaucher disease
Condition: not provided
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA30895561

rs_866075757

3 SubmittersRCV001199857 RCV004590216 RCV002497680

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

SNV
Germline

Chr1:155235831

Likely pathogenic

Gaucher disease type I

No Assertion Criteria Provided

CA342714144

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

CA342714645

rs_1392291885

1 SubmittersRCV001200045

NM_000157.4(GBA1):c.1534A>T (p.Lys512Ter)

SNV
Germline

Chr1:155235072

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA342710190

rs_1671660634

2 SubmittersRCV001251331 RCV001266631

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

SNV
Germline

Chr1:155240637

Pathogenic

Gaucher disease

Criteria Provided
Single Submitter

CA1141857

rs_777383151

2 SubmittersRCV001251352

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

SNV
Germline

Chr1:155239736

Pathogenic

Gaucher disease

Criteria Provided
Single Submitter

CA342726461

rs_1671974195

1 SubmittersRCV001264492

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

CA342722534

rs_1671872221

5 SubmittersRCV001290586 RCV001566455 RCV001836981

NM_000157.4(GBA1):c.1388+1G>A

SNV
Germline

Chr1:155235680

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA342712215

rs_1671699033

1 SubmittersRCV001783348

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

SNV
Unknown

Chr1:155237426

Likely pathogenic

Gaucher disease type I

Criteria Provided
Single Submitter

CA342719286

rs_79215220

1 SubmittersRCV001376104

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

SNV
Germline

Chr1:155238291

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA30895591

rs_1009850780

9 SubmittersRCV001732184 RCV001780385 RCV001837003 RCV004796635 RCV003416342

NM_000157.4(GBA1):c.593C>T (p.Pro198Leu)

SNV
Germline

Chr1:155238302

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA30895608

rs_80222298

4 SubmittersRCV001507456 RCV004587170

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

SNV
Germline

Chr1:155235829

Pathogenic/Likely pathogenic

Condition: not provided
Gaucher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA342714108

rs_398123528

3 SubmittersRCV001531641 RCV004699411

NM_000157.4(GBA1):c.1506-12C>T

SNV
Germline

Chr1:155235112

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1141496

rs_368832292

2 SubmittersRCV001532957 RCV001587464

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

SNV
Germline

Chr1:155235814

Likely pathogenic

Gaucher disease type I
GBA1-related disorder

Criteria Provided
Single Submitter

CA342713897

rs_1671712475

2 SubmittersRCV001542262 RCV004752008

NM_000157.4(GBA1):c.1455A>G (p.Ala485=)

SNV
Germline

Chr1:155235245

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1141524

rs_199928507

5 SubmittersRCV001563830 RCV001563829 RCV004720312 RCV006439000 RCV004917724

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

SNV
Germline

Chr1:155235820

Pathogenic/Likely pathogenic

Condition: not provided
Gaucher disease
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA342713973

rs_1450426641

4 SubmittersRCV001583104 RCV001827516 RCV002488413

NM_000157.4(GBA1):c.518C>A (p.Thr173Asn)

SNV
Germline

Chr1:155238587

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA342724310

rs_78657146

1 SubmittersRCV001580831

NM_000157.4(GBA1):c.1088T>C (p.Leu363Pro)

SNV
Germline

Chr1:155236381

Likely pathogenic

Condition: not provided
Gaucher disease

Criteria Provided
Single Submitter

CA342716963

rs_1178732315

3 SubmittersRCV001723303 RCV004587196

NM_000157.4(GBA1):c.901C>T (p.Arg301Cys)

SNV
Germline

Chr1:155237439

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1141665

rs_374117599

2 SubmittersRCV001763007

NM_000157.4(GBA1):c.1312G>C (p.Asp438His)

SNV
Germline

Chr1:155235757

Likely pathogenic

Parkinson disease, late-onset

No Assertion Criteria Provided

CA342713226

rs_1553217009

1 SubmittersRCV001771807

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

SNV
Germline

Chr1:155239937

Pathogenic

Gaucher disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342727218

rs_1671987417

2 SubmittersRCV001779515 RCV006467940

NM_000157.4(GBA1):c.695G>A (p.Gly232Glu)

SNV
Germline

Chr1:155238200

Conflicting classifications of pathogenicity

Alpha thalassemia-X-linked intellectual disability syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342722010

rs_1376479747

3 SubmittersRCV001808963 RCV004719175

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

CA1141731

rs_746019841

3 SubmittersRCV001823570 RCV002282581 RCV003146246

NM_000157.4(GBA1):c.761+4A>G

SNV
Germline

Chr1:155238130

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA2573130588

rs_2148076506

1 SubmittersRCV002211107

NM_000157.4(GBA1):c.1225-3T>C

SNV
Germline

Chr1:155235847

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1141574

rs_377143075

3 SubmittersRCV002224929

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

SNV
Germline

Chr1:155239615

Conflicting classifications of pathogenicity

Gaucher disease
Lewy body dementia
Gaucher disease type I

Criteria Provided
Conflicting Classifications

CA1141755

rs_539166948

3 SubmittersRCV002238585 RCV004785537 RCV005627256

NM_000157.4(GBA1):c.1537G>A (p.Asp513Asn)

SNV
Germline

Chr1:155235069

Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342710104

rs_2148069969

2 SubmittersRCV002254503

NM_000157.4(GBA1):c.816A>C (p.Glu272Asp)

SNV
Germline

Chr1:155237524

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA342720383

rs_2148075570

2 SubmittersRCV002254507

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

SNV
Germline

Chr1:155235193

Likely pathogenic

Gaucher disease

Criteria Provided
Single Submitter

CA342710731

rs_2148070287

2 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

CA1141733

rs_377325220

3 SubmittersRCV002282765 RCV003230742 RCV003146532

NM_000157.4(GBA1):c.1361C>T (p.Pro454Leu)

SNV
Germline

Chr1:155235708

Pathogenic

Lewy body dementia

No Assertion Criteria Provided

CA342712599

rs_121908295

1 SubmittersRCV003224821

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

SNV
Germline

Chr1:155236255

Conflicting classifications of pathogenicity

Gaucher disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA342714644

rs_1392291885

3 SubmittersRCV003388120 RCV004823038 RCV004066487

NM_000157.4(GBA1):c.517A>G (p.Thr173Ala)

SNV
Germline

Chr1:155238588

Likely pathogenic

not specified

Criteria Provided
Single Submitter

CA342724314

rs_1441909908

1 SubmittersRCV004066491

NM_000157.4(GBA1):c.364G>C (p.Gly122Arg)

SNV
Germline

Chr1:155239706

Likely pathogenic

not specified

Criteria Provided
Single Submitter

CA342726268

rs_2524844959

1 SubmittersRCV004066564

NM_000157.4(GBA1):c.845G>A (p.Gly282Glu)

SNV
Germline

Chr1:155237495

Likely pathogenic

not specified

Criteria Provided
Single Submitter

CA342720095

rs_2524831565

1 SubmittersRCV004067442

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

CA30896586

rs_1141802

2 SubmittersRCV004091313 RCV004560069

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

SNV
Germline

Chr1:155235769

Likely pathogenic

Gaucher disease
Gaucher disease type I
Parkinson disease, late-onset

Criteria Provided
Multiple Submitters
No Conflicts

CA342713359

rs_747284798

3 SubmittersRCV003123406 RCV005627259 RCV005870093

NM_000157.4(GBA1):c.1260G>A (p.Trp420Ter)

SNV
Germline

Chr1:155235809

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA342713813

rs_2524820366

1 SubmittersRCV003138827

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

CA1141672

rs_755512507

2 SubmittersRCV003135334 RCV004579610

NM_000157.4(GBA1):c.479T>C (p.Val160Ala)

SNV
Germline

Chr1:155238626

Conflicting classifications of pathogenicity

Condition: not provided
Gaucher disease type I

Criteria Provided
Conflicting Classifications

CA342724725

rs_2524839442

2 SubmittersRCV003130999 RCV005433358

NM_000157.4(GBA1):c.1162G>A (p.Glu388Lys)

SNV
Germline

Chr1:155236307

Likely pathogenic

Condition: not provided
GBA1-related disorder

Criteria Provided
Single Submitter

CA342715231

rs_1161552095

2 SubmittersRCV003145796 RCV004750868

NM_000157.4(GBA1):c.113C>G (p.Ser38Ter)

SNV
Germline

Chr1:155240632

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA342729521

rs_2524851054

1 SubmittersRCV003145804

NM_000157.4(GBA1):c.896T>A (p.Ile299Asn)

SNV
Unknown

Chr1:155237444

Likely pathogenic

Parkinson disease, late-onset

Criteria Provided
Single Submitter

CA342719496

rs_794727908

1 SubmittersRCV003225714

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

SNV
Germline

Chr1:155237493

Likely pathogenic

Gaucher disease

Criteria Provided
Single Submitter

CA1141668

rs_750777791

1 SubmittersRCV003226690

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

SNV
Germline

Chr1:155239933

Pathogenic

Gaucher disease
Gaucher disease type I

Criteria Provided
Multiple Submitters
No Conflicts

CA30896518

rs_78769774

2 SubmittersRCV003230935 RCV003988098

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

SNV
Germline

Chr1:155236254

Likely pathogenic

Gaucher disease

Criteria Provided
Single Submitter

CA30894739

rs_75528494

1 SubmittersRCV003230936

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

SNV
Germline

Chr1:155235193

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA342710725

rs_2148070287

1 SubmittersRCV003328045

NM_000157.4(GBA1):c.212C>T (p.Pro71Leu)

SNV
Germline

Chr1:155239981

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA342727597

rs_2524847096

1 SubmittersRCV003328056

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

SNV
Germline

Chr1:155236415

Pathogenic

Gaucher disease

Criteria Provided
Single Submitter

CA342717552

rs_2148073370

1 SubmittersRCV003331578

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

SNV
Germline

Chr1:155237564

Likely pathogenic

Gaucher disease
Gaucher disease type I

Criteria Provided
Single Submitter

CA342720858

rs_749014188

2 SubmittersRCV003331970 RCV005627260

NM_000157.4(GBA1):c.907C>A (p.Leu303Ile)

SNV
Germline

Chr1:155237433

Conflicting classifications of pathogenicity

Gaucher disease type I
7 conditions

Criteria Provided
Conflicting Classifications

CA342719357

rs_1296507371

3 SubmittersRCV003389033 RCV004819251

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

SNV
Germline

Chr1:155238567

Likely pathogenic

Gaucher disease type II

Criteria Provided
Single Submitter

CA342724120

rs_1285705042

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

CA30894764

rs_74979486

3 SubmittersRCV003479907 RCV003482466

NM_000157.4(GBA1):c.1138G>A (p.Ala380Thr)

SNV
Germline

Chr1:155236331

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1141612

rs_781306264

2 SubmittersRCV003489366 RCV005240789

NM_000157.4(GBA1):c.1236C>A (p.Tyr412Ter)

SNV
Germline

Chr1:155235833

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA342714180

rs_2524820658

1 SubmittersRCV003489367

NM_000157.4(GBA1):c.1312G>T (p.Asp438Tyr)

SNV
Germline

Chr1:155235757

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA342713235

rs_1553217009

1 SubmittersRCV003489368

NM_000157.4(GBA1):c.820G>A (p.Glu274Lys)

SNV
Germline

Chr1:155237520

Pathogenic

not specified

Criteria Provided
Single Submitter

CA342720368

rs_2524831647

1 SubmittersRCV003988797

NM_000157.4(GBA1):c.1292A>G (p.Asn431Ser)

SNV
Germline

Chr1:155235777

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_77738682

1 SubmittersRCV004575081

NM_000157.4(GBA1):c.1028A>G (p.Tyr343Cys)

SNV
Germline

Chr1:155236441

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_77321207

1 SubmittersRCV004575351

NM_000157.4(GBA1):c.680A>T (p.Asn227Ile)

SNV
Germline

Chr1:155238215

Pathogenic

Gaucher disease

Criteria Provided
Single Submitter

rs_364897

1 SubmittersRCV004587771

NM_000157.4(GBA1):c.1193G>T (p.Arg398Leu)

SNV
Germline

Chr1:155236276

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004598924

NM_000157.4(GBA1):c.498C>A (p.Asp166Glu)

SNV
Germline

Chr1:155238607

Likely pathogenic

GBA1-related disorder

No Assertion Criteria Provided

1 SubmittersRCV004752378

NM_000157.4(GBA1):c.622C>T (p.Gln208Ter)

SNV
Germline

Chr1:155238273

Pathogenic

Gaucher disease type I

Criteria Provided
Single Submitter

1 SubmittersRCV004796582

NM_000157.4(GBA1):c.160G>A (p.Val54Met)

SNV
Germline

Chr1:155240033

Pathogenic

Gaucher disease type I

Criteria Provided
Single Submitter

1 SubmittersRCV004798133

NM_000157.4(GBA1):c.1256A>C (p.Asp419Ala)

SNV
Germline

Chr1:155235813

Likely pathogenic

Gaucher disease

Criteria Provided
Single Submitter

1 SubmittersRCV004799875

NM_000157.4(GBA1):c.1193G>C (p.Arg398Pro)

SNV
Germline

Chr1:155236276

Pathogenic

Gaucher disease

Criteria Provided
Single Submitter

1 SubmittersRCV004800933

NM_000157.4(GBA1):c.1393T>G (p.Phe465Val)

SNV
Germline

Chr1:155235307

Likely pathogenic

Lewy body dementia

Criteria Provided
Single Submitter

1 SubmittersRCV004821010

NM_000157.4(GBA1):c.187G>A (p.Asp63Asn)

SNV
Germline

Chr1:155240006

Likely pathogenic

Gaucher disease

Criteria Provided
Single Submitter

1 SubmittersRCV005238630

NM_000157.4(GBA1):c.1165C>T (p.Gln389Ter)

SNV
Germline

Chr1:155236304

Pathogenic/Likely pathogenic

Gaucher disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005239854 RCV005632892

NM_000157.4(GBA1):c.1331A>T (p.Asp444Val)

SNV
Germline

Chr1:155235738

Likely pathogenic

Gaucher disease

Criteria Provided
Single Submitter

1 SubmittersRCV005239981

NM_000157.4(GBA1):c.971G>C (p.Arg324Pro)

SNV
Germline

Chr1:155237369

Likely pathogenic

Gaucher disease

No Assertion Criteria Provided

1 SubmittersRCV005613987

NM_000157.4(GBA1):c.1161G>A (p.Trp387Ter)

SNV
Germline

Chr1:155236308

Likely pathogenic

Gaucher disease

No Assertion Criteria Provided

1 SubmittersRCV005614003

NM_000157.4(GBA1):c.1246G>T (p.Gly416Cys)

SNV
Germline

Chr1:155235823

Likely pathogenic

Gaucher disease

No Assertion Criteria Provided

1 SubmittersRCV005614005

NM_000157.4(GBA1):c.1000-2A>G

SNV
Germline

Chr1:155236471

Likely pathogenic

Gaucher disease

No Assertion Criteria Provided

1 SubmittersRCV005614008

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

SNV
Germline

Chr1:155237579

Pathogenic

Gaucher disease

No Assertion Criteria Provided

1 SubmittersRCV005614020

NM_000157.4(GBA1):c.1060G>A (p.Asp354Asn)

SNV
Germline

Chr1:155236409

Likely pathogenic

Gaucher disease

No Assertion Criteria Provided

1 SubmittersRCV005614033

NM_000157.4(GBA1):c.1224+1G>C

SNV
Germline

Chr1:155236244

Likely pathogenic

Gaucher disease

No Assertion Criteria Provided

1 SubmittersRCV005614034

NM_000157.4(GBA1):c.1435C>T (p.Gln479Ter)

SNV
Germline

Chr1:155235265

Likely pathogenic

Gaucher disease

No Assertion Criteria Provided

1 SubmittersRCV005613944

NM_000157.4(GBA1):c.1309G>A (p.Val437Ile)

SNV
Germline

Chr1:155235760

Likely pathogenic

Gaucher disease type I

No Assertion Criteria Provided

1 SubmittersRCV005627296

NM_000157.4(GBA1):c.1583T>C (p.Ile528Thr)

SNV
Germline

Chr1:155235023

Likely pathogenic

Gaucher disease type I

No Assertion Criteria Provided

1 SubmittersRCV005627298

NM_000157.4(GBA1):c.220G>A (p.Gly74Ser)

SNV
Germline

Chr1:155239973

Likely pathogenic

Gaucher disease type I

No Assertion Criteria Provided

1 SubmittersRCV005627302

NM_000157.4(GBA1):c.448G>A (p.Glu150Lys)

SNV
Germline

Chr1:155239622

Likely pathogenic

Gaucher disease type I

No Assertion Criteria Provided

1 SubmittersRCV005627303

NM_000157.4(GBA1):c.746C>T (p.Ala249Val)

SNV
Germline

Chr1:155238149

Likely pathogenic

Gaucher disease type I

No Assertion Criteria Provided

1 SubmittersRCV005627304

NM_000157.4(GBA1):c.1589C>T (p.Thr530Ile)

SNV
Germline

Chr1:155235017

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005636431

NM_000157.4(GBA1):c.245C>T (p.Thr82Ile)

SNV
Germline

Chr1:155239948

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005635781

NM_000157.4(GBA1):c.1148G>A (p.Gly383Asp)

SNV
Germline

Chr1:155236321

Conflicting classifications of pathogenicity

Condition: not provided
Gaucher disease type I

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005634256 RCV006484876

NM_000157.4(GBA1):c.1162G>T (p.Glu388Ter)

SNV
Germline

Chr1:155236307

Likely pathogenic

6 conditions

Criteria Provided
Single Submitter

1 SubmittersRCV006255097

NM_000157.4(GBA1):c.1389-2A>G

SNV
Germline

Chr1:155235313

Pathogenic

Gaucher disease

Criteria Provided
Single Submitter

1 SubmittersRCV006268611

NM_000157.4(GBA1):c.518C>T (p.Thr173Ile)

SNV
Germline

Chr1:155238587

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006534033