Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)	SNV Germline	Chr2:218814716	Pathogenic	Cholestanol storage disease Condition: not provided CYP27A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA340210	rs_72551322	15 SubmittersRCV000004476 RCV000733099 RCV003398444
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	SNV Germline	Chr2:218814186	Pathogenic/Likely pathogenic	Cholestanol storage disease Condition: not provided Intellectual disability Cardiovascular phenotype CYP27A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA340211	rs_121908096	25 SubmittersRCV000004477 RCV000275162 RCV001252460 RCV005318309 RCV003974793
NM_000784.4(CYP27A1):c.845-1G>A	SNV Germline	Chr2:218812923	Pathogenic	Cholestanol storage disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340212	rs_397515353	8 SubmittersRCV000004478 RCV000522490
NM_000784.4(CYP27A1):c.844+1G>A	SNV Germline	Chr2:218812750	Pathogenic	Cholestanol storage disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340213	rs_397515354	8 SubmittersRCV000004479 RCV001268682
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)	SNV Germline	Chr2:218814702	Pathogenic	Cholestanol storage disease Condition: not provided CYP27A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA340214	rs_121908097	13 SubmittersRCV000004480 RCV001650828 RCV003415650
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)	SNV Germline	Chr2:218814701	Pathogenic/Likely pathogenic	Cholestanol storage disease Condition: not provided CYP27A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA340215	rs_121908098	15 SubmittersRCV000004481 RCV002264907 RCV003982823
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)	SNV Germline	Chr2:218814409	Pathogenic/Likely pathogenic	Cholestanol storage disease Condition: not provided Intellectual disability	Criteria Provided Multiple Submitters No Conflicts	CA340216	rs_121908099	14 SubmittersRCV000004482 RCV000726759 RCV001252459
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)	SNV Germline	Chr2:218814186	Pathogenic/Likely pathogenic	Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA340217	rs_121908096	6 SubmittersRCV000004483
NM_000784.4(CYP27A1):c.1263+1G>A	SNV Germline	Chr2:218814459	Pathogenic	Cholestanol storage disease Condition: not provided CYP27A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA340218	rs_397515355	12 SubmittersRCV000004484 RCV000519339 RCV004748497
NM_000784.4(CYP27A1):c.434G>A (p.Gly145Glu)	SNV Germline	Chr2:218809755	Pathogenic	Cholestanol storage disease	No Assertion Criteria Provided	CA340219	rs_72551313	2 SubmittersRCV000004485
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)	SNV Germline	Chr2:218813095	Pathogenic/Likely pathogenic	Cholestanol storage disease Condition: not provided Cardiovascular phenotype CYP27A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA340221	rs_121908102	22 SubmittersRCV000004487 RCV000518366 RCV005549905 RCV003430633
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)	SNV Germline	Chr2:218814716	Conflicting classifications of pathogenicity	Cholestanol storage disease Condition: not provided	Criteria Provided Conflicting Classifications	CA340223	rs_72551322	11 SubmittersRCV000004488 RCV000597433
NM_000784.4(CYP27A1):c.1017G>C (p.Thr339=)	SNV Unknown	Chr2:218813096	Pathogenic	Cholestanol storage disease	No Assertion Criteria Provided	CA345152	rs_200553205	1 SubmittersRCV000056065
NM_000784.4(CYP27A1):c.1061A>G (p.Asp354Gly)	SNV Unknown	Chr2:218814064	Pathogenic	Cholestanol storage disease	No Assertion Criteria Provided	CA345156	rs_72551320	1 SubmittersRCV000056067
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)	SNV Germline	Chr2:218814154	Conflicting classifications of pathogenicity	Cholestanol storage disease not specified Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA203235	rs_41272687	21 SubmittersRCV000056071 RCV000179342 RCV001698579 RCV002345362
NM_000784.4(CYP27A1):c.1184+1G>A	SNV Germline	Chr2:218814188	Pathogenic	Cholestanol storage disease Condition: not provided CYP27A1-related disorder Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA345161	rs_587778777	24 SubmittersRCV000056073 RCV000255284 RCV004748547 RCV004018984
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)	SNV Germline	Chr2:218814187	Pathogenic/Likely pathogenic	Cholestanol storage disease Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA345162	rs_587778778	12 SubmittersRCV000056074 RCV000593893 RCV005318320
NM_000784.4(CYP27A1):c.1185-1G>T	SNV Germline	Chr2:218814379	Pathogenic	Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA345164	rs_587778779	4 SubmittersRCV000056075
NM_000784.4(CYP27A1):c.1202C>G (p.Pro401Arg)	SNV Unknown	Chr2:218814397	Pathogenic	Cholestanol storage disease	No Assertion Criteria Provided	CA345165	rs_587778780	1 SubmittersRCV000056076
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)	SNV Germline	Chr2:218814404	Conflicting classifications of pathogenicity	Cholestanol storage disease	Criteria Provided Conflicting Classifications	CA345167	rs_587778781	5 SubmittersRCV000056077
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)	SNV Germline	Chr2:218814408	Pathogenic/Likely pathogenic	Cholestanol storage disease Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA345169	rs_573951598	10 SubmittersRCV000056078 RCV000727395 RCV004992000
NM_000784.4(CYP27A1):c.1222G>T (p.Glu408Ter)	SNV Unknown	Chr2:218814417	Pathogenic	Cholestanol storage disease	No Assertion Criteria Provided	CA345171	rs_587778782	1 SubmittersRCV000056079
NM_000784.4(CYP27A1):c.1263+5G>T	SNV Germline	Chr2:218814463	Pathogenic	Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA345175	rs_587778784	3 SubmittersRCV000056081
NM_000784.4(CYP27A1):c.1264-1G>A	SNV Germline	Chr2:218814544	Pathogenic	Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA345176	rs_587778785	3 SubmittersRCV000056084
NM_000784.4(CYP27A1):c.1402C>T (p.Pro468Ser)	SNV Unknown	Chr2:218814683	Pathogenic	Cholestanol storage disease	No Assertion Criteria Provided	CA345179	rs_587778787	1 SubmittersRCV000056090
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)	SNV Germline	Chr2:218814696	Conflicting classifications of pathogenicity	Cholestanol storage disease Condition: not provided	Criteria Provided Conflicting Classifications	CA345181	rs_200883871	9 SubmittersRCV000056091 RCV001785469
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)	SNV Germline	Chr2:218809700	Pathogenic	Cholestanol storage disease Condition: not provided CYP27A1-related disorder See cases	Criteria Provided Multiple Submitters No Conflicts	CA345193	rs_201114717	12 SubmittersRCV000056110 RCV001267948 RCV003415826 RCV002251956
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)	SNV Germline	Chr2:218809701	Pathogenic	Cholestanol storage disease Condition: not provided CYP27A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA345195	rs_376230356	10 SubmittersRCV000056111 RCV003480049 RCV004748548
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)	SNV Germline	Chr2:218809730	Conflicting classifications of pathogenicity	Cholestanol storage disease Condition: not provided CYP27A1-related disorder	Criteria Provided Conflicting Classifications	CA345197	rs_72551312	10 SubmittersRCV000056112 RCV001268892 RCV003894909
NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg)	SNV Germline	Chr2:218809754	Conflicting classifications of pathogenicity	Cholestanol storage disease Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA345199	rs_587778795	6 SubmittersRCV000056113 RCV001092428 RCV005406795
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)	SNV Germline	Chr2:218809756	Pathogenic/Likely pathogenic	Cholestanol storage disease CYP27A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA345201	rs_587778796	8 SubmittersRCV000056114 RCV003915020
NM_000784.4(CYP27A1):c.446+1G>A	SNV Germline	Chr2:218809768	Pathogenic	Cholestanol storage disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA345205	rs_587778797	8 SubmittersRCV000056116 RCV000733190
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter)	SNV Germline	Chr2:218812250	Pathogenic	Cholestanol storage disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA345208	rs_72551314	6 SubmittersRCV000056118 RCV000444884
NM_000784.4(CYP27A1):c.583G>T (p.Glu195Ter)	SNV Unknown	Chr2:218812358	Pathogenic	Cholestanol storage disease	No Assertion Criteria Provided	CA345212	rs_587778800	1 SubmittersRCV000056123
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)	SNV Germline	Chr2:218812421	Pathogenic/Likely pathogenic	Cholestanol storage disease CYP27A1-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA345222	rs_201346271	15 SubmittersRCV000056130 RCV003964910 RCV001268441
NM_000784.4(CYP27A1):c.647-1G>T	SNV Unknown	Chr2:218812551	Pathogenic	Cholestanol storage disease	No Assertion Criteria Provided	CA345224	rs_587778804	1 SubmittersRCV000056131
NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter)	SNV Germline	Chr2:218812596	Pathogenic	Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA345226	rs_72551315	5 SubmittersRCV000056136
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter)	SNV Germline	Chr2:218812650	Pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA345230	rs_72551316	3 SubmittersRCV000056140
NM_000784.4(CYP27A1):c.752C>A (p.Ser251Ter)	SNV Unknown	Chr2:218812657	Pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA345232	rs_587778808	2 SubmittersRCV000056141
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)	SNV Germline	Chr2:218812681	Conflicting classifications of pathogenicity	Cholestanol storage disease Condition: not provided	Criteria Provided Conflicting Classifications	CA345234	rs_72551317	8 SubmittersRCV000056144 RCV002292465
NM_000784.4(CYP27A1):c.779G>A (p.Trp260Ter)	SNV Unknown	Chr2:218812684	Pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA345236	rs_587778810	2 SubmittersRCV000056145
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)	SNV Germline	Chr2:218812713	Pathogenic	Cholestanol storage disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA345241	rs_72551318	12 SubmittersRCV000056148 RCV000732382
NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter)	SNV Germline	Chr2:218812929	Pathogenic	Cholestanol storage disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA345246	rs_72551319	6 SubmittersRCV000056153 RCV001092429
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)	SNV Germline	Chr2:218809731	Pathogenic/Likely pathogenic	Cholestanol storage disease Condition: not provided CYP27A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA345260	rs_587778818	12 SubmittersRCV000056176 RCV001267947 RCV003894910
NM_000784.4(CYP27A1):c.399G>A (p.Trp133Ter)	SNV Unknown	Chr2:218809720	Pathogenic	Cholestanol storage disease	No Assertion Criteria Provided	CA350583559	rs_1160640803	1 SubmittersRCV000056246
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys)	SNV Germline	Chr2:218814623	Conflicting classifications of pathogenicity	Condition: not provided Regression of motor development with severe dystonia and corresponding basal ganglia lesions not specified Cardiovascular phenotype Cholestanol storage disease	Criteria Provided Conflicting Classifications	CA186041	rs_730882199	6 SubmittersRCV000171331 RCV000162100 RCV001804890 RCV004019950 RCV001850285
NM_000784.4(CYP27A1):c.-6C>T	SNV Germline	Chr2:218782177	Conflicting classifications of pathogenicity	not specified Cholestanol storage disease Condition: not provided	Criteria Provided Conflicting Classifications	CA200332	rs_199891090	4 SubmittersRCV000173170 RCV000294686 RCV001682882
NM_000784.4(CYP27A1):c.646+4C>T	SNV Germline	Chr2:218812425	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease CYP27A1-related disorder	Criteria Provided Conflicting Classifications	CA243191	rs_191313794	5 SubmittersRCV000177089 RCV001082198 RCV003965279
NM_000784.4(CYP27A1):c.891G>T (p.Leu297=)	SNV Germline	Chr2:218812970	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease Cardiovascular phenotype CYP27A1-related disorder	Criteria Provided Conflicting Classifications	CA245977	rs_144455258	5 SubmittersRCV000178807 RCV001089152 RCV002444714 RCV003967435
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)	SNV Germline	Chr2:218782184	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease not specified CYP27A1-related disorder	Criteria Provided Conflicting Classifications	CA2112501	rs_759003992	7 SubmittersRCV000286244 RCV000351883 RCV001731556 RCV003422191
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln)	SNV Germline	Chr2:218812266	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease Intellectual disability Cardiovascular phenotype CYP27A1-related disorder	Criteria Provided Conflicting Classifications	CA2112624	rs_148417330	8 SubmittersRCV000299535 RCV001138491 RCV001252458 RCV002347996 RCV003417892
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=)	SNV Germline	Chr2:218813096	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease not specified	Criteria Provided Conflicting Classifications	CA2112770	rs_200553205	7 SubmittersRCV000397921 RCV000665225 RCV002282102
NM_000784.4(CYP27A1):c.120C>T (p.Ala40=)	SNV Germline	Chr2:218782302	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype CYP27A1-related disorder Cholestanol storage disease	Criteria Provided Conflicting Classifications	CA2112516	rs_150389057	6 SubmittersRCV000367259 RCV002356385 RCV003930117 RCV001431442
NM_000784.4(CYP27A1):c.609G>A (p.Ser203=)	SNV Germline	Chr2:218812384	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease Cardiovascular phenotype CYP27A1-related disorder	Criteria Provided Conflicting Classifications	CA2112665	rs_148132118	4 SubmittersRCV000396852 RCV001078696 RCV002356386 RCV003897621
NM_000784.4(CYP27A1):c.792G>A (p.Val264=)	SNV Germline	Chr2:218812697	Conflicting classifications of pathogenicity	Cholestanol storage disease not specified Cardiovascular phenotype CYP27A1-related disorder	Criteria Provided Conflicting Classifications	CA2112718	rs_144018609	6 SubmittersRCV000265806 RCV000284553 RCV002418120 RCV003967766
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=)	SNV Germline	Chr2:218814700	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA2112891	rs_138596741	8 SubmittersRCV000513426 RCV000625221 RCV002392807 RCV001706418
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)	SNV Germline	Chr2:218809597	Conflicting classifications of pathogenicity	Cholestanol storage disease Condition: not provided not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2112559	rs_141519183	10 SubmittersRCV000293606 RCV000316531 RCV001700029 RCV005318362
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser)	SNV Germline	Chr2:218812311	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2112641	rs_145080072	5 SubmittersRCV000373213 RCV000397675 RCV002348013
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln)	SNV Germline	Chr2:218812353	Conflicting classifications of pathogenicity	not specified Cholestanol storage disease Condition: not provided CYP27A1-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2112656	rs_181649030	7 SubmittersRCV000260963 RCV000363976 RCV002244740 RCV003910011 RCV004992161
NM_000784.4(CYP27A1):c.1311C>T (p.Ala437=)	SNV Germline	Chr2:218814592	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease	Criteria Provided Conflicting Classifications	CA10606938	rs_886044581	2 SubmittersRCV000309386 RCV001408726
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg)	SNV Germline	Chr2:218814117	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2112807	rs_369969903	5 SubmittersRCV000368208 RCV001138169 RCV002436128
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys)	SNV Germline	Chr2:218812608	Conflicting classifications of pathogenicity	Cholestanol storage disease Condition: not provided CYP27A1-related disorder	Criteria Provided Conflicting Classifications	CA2112698	rs_149897566	6 SubmittersRCV000400254 RCV000729208 RCV003972410
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=)	SNV Germline	Chr2:218812694	Conflicting classifications of pathogenicity	Cholestanol storage disease Condition: not provided not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2112716	rs_143600636	9 SubmittersRCV000358090 RCV000728807 RCV001700067 RCV002418198
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=)	SNV Germline	Chr2:218812652	Conflicting classifications of pathogenicity	Cholestanol storage disease Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2112710	rs_764766872	5 SubmittersRCV000305754 RCV001289110 RCV002392897
NM_000784.3(CYP27A1):c.-205C>A	SNV Germline	Chr2:218781978	Conflicting classifications of pathogenicity	Cholestanol storage disease Condition: not provided	Criteria Provided Conflicting Classifications	CA10614327	rs_187723732	2 SubmittersRCV000281692 RCV001549986
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys)	SNV Germline	Chr2:218812950	Conflicting classifications of pathogenicity	Cholestanol storage disease Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2112751	rs_190012697	7 SubmittersRCV000353347 RCV001699326 RCV002374576
NM_000784.4(CYP27A1):c.1184+9G>T	SNV Germline	Chr2:218814196	Conflicting classifications of pathogenicity	Cholestanol storage disease CYP27A1-related disorder	Criteria Provided Conflicting Classifications	CA2112814	rs_200457116	4 SubmittersRCV000273860 RCV003912409
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter)	SNV Germline	Chr2:218812926	Pathogenic/Likely pathogenic	Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA16044245	rs_1057519469	2 SubmittersRCV000416454
NM_000784.4(CYP27A1):c.1477-2A>C	SNV Germline	Chr2:218814909	Pathogenic/Likely pathogenic	Condition: not provided Cholestanol storage disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA2112924	rs_111570247	5 SubmittersRCV000432466 RCV001833525 RCV004022314
NM_000784.4(CYP27A1):c.446+1G>T	SNV Germline	Chr2:218809768	Pathogenic	Condition: not provided Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA350584205	rs_587778797	3 SubmittersRCV000732194 RCV001386295
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)	SNV Germline	Chr2:218814972	Conflicting classifications of pathogenicity	Cholestanol storage disease Condition: not provided	Criteria Provided Conflicting Classifications	CA2112939	rs_144701596	7 SubmittersRCV000670762 RCV000727184
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=)	SNV Germline	Chr2:218812399	Conflicting classifications of pathogenicity	Cholestanol storage disease Cardiovascular phenotype Condition: not provided CYP27A1-related disorder	Criteria Provided Conflicting Classifications	CA65832846	rs_200060245	7 SubmittersRCV001504256 RCV002368002 RCV000593341 RCV003915697
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His)	SNV Germline	Chr2:218814717	Conflicting classifications of pathogenicity	Condition: not provided CYP27A1-related disorder Cholestanol storage disease	Criteria Provided Conflicting Classifications	CA2112895	rs_199638075	5 SubmittersRCV000596853 RCV003420030 RCV001243512
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro)	SNV Germline	Chr2:218812266	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease Cardiovascular phenotype CYP27A1-related disorder	Criteria Provided Conflicting Classifications	CA2112625	rs_148417330	13 SubmittersRCV000594613 RCV000765608 RCV004024736 RCV003420031
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly)	SNV Germline	Chr2:218812302	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease	Criteria Provided Conflicting Classifications	CA2112638	rs_748325824	3 SubmittersRCV000593909 RCV000804550
NM_000784.4(CYP27A1):c.693A>T (p.Arg231=)	SNV Germline	Chr2:218812598	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Cholestanol storage disease	Criteria Provided Conflicting Classifications	CA431414266	rs_1187804477	3 SubmittersRCV000594622 RCV002368014 RCV001860187
NM_000784.4(CYP27A1):c.1185-1G>A	SNV Germline	Chr2:218814379	Pathogenic	Condition: not provided Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA350592934	rs_587778779	4 SubmittersRCV000598414 RCV001067046
NM_000784.4(CYP27A1):c.420C>T (p.His140=)	SNV Germline	Chr2:218809741	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease Cardiovascular phenotype CYP27A1-related disorder	Criteria Provided Conflicting Classifications	CA2112585	rs_139415581	5 SubmittersRCV000595739 RCV001078847 RCV003302916 RCV003900335
NM_000784.4(CYP27A1):c.315C>T (p.His105=)	SNV Germline	Chr2:218809636	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease CYP27A1-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2112564	rs_753981913	5 SubmittersRCV000595224 RCV001087651 RCV004748840 RCV003160040
NM_000784.4(CYP27A1):c.790G>A (p.Val264Met)	SNV Germline	Chr2:218812695	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2112717	rs_201500822	4 SubmittersRCV000596057 RCV001429604 RCV004024796
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile)	SNV Germline	Chr2:218782330	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2112521	rs_149101812	5 SubmittersRCV000712499 RCV001498426 RCV002395534
NM_000784.4(CYP27A1):c.126A>G (p.Gly42=)	SNV Germline	Chr2:218782308	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA431413972	rs_1238340088	3 SubmittersRCV000593653 RCV001418586 RCV002377237
NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter)	SNV Germline	Chr2:218812965	Pathogenic	Condition: not provided Cholestanol storage disease CYP27A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2112755	rs_575064188	7 SubmittersRCV000597135 RCV001045736 RCV004748850
NM_000784.4(CYP27A1):c.515C>T (p.Ala172Val)	SNV Germline	Chr2:218812290	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2112632	rs_200753815	3 SubmittersRCV000595155 RCV001423428 RCV005550004
NM_000784.4(CYP27A1):c.1434C>T (p.Gly478=)	SNV Germline	Chr2:218814715	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease Cardiovascular phenotype CYP27A1-related disorder	Criteria Provided Conflicting Classifications	CA2112892	rs_139279260	4 SubmittersRCV000597026 RCV001088579 RCV002395540 RCV003900356
NM_000784.4(CYP27A1):c.1477-3C>T	SNV Germline	Chr2:218814908	Conflicting classifications of pathogenicity	not specified Cholestanol storage disease CYP27A1-related disorder	Criteria Provided Conflicting Classifications	CA2112922	rs_78938783	3 SubmittersRCV000610458 RCV001860278 RCV003905608
NM_000784.4(CYP27A1):c.193C>T (p.Gln65Ter)	SNV Unknown	Chr2:218782375	Likely pathogenic	Cholestanol storage disease	No Assertion Criteria Provided	CA350576555	rs_1553614310	1 SubmittersRCV000665890
NM_000784.4(CYP27A1):c.256-1G>T	SNV Germline	Chr2:218809576	Pathogenic	Cholestanol storage disease Condition: not provided CYP27A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA65830321	rs_886556800	6 SubmittersRCV000668882 RCV000728856 RCV004748891
NM_000784.4(CYP27A1):c.1185-2A>C	SNV Unknown	Chr2:218814378	Likely pathogenic	Cholestanol storage disease	No Assertion Criteria Provided	CA350592919	rs_1553616457	1 SubmittersRCV000669626
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)	SNV Germline	Chr2:218814971	Pathogenic/Likely pathogenic	Cholestanol storage disease CYP27A1-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2112938	rs_560108684	8 SubmittersRCV000673959 RCV004748897 RCV005620383
NM_000784.4(CYP27A1):c.646+1G>C	SNV Unknown	Chr2:218812422	Likely pathogenic	Cholestanol storage disease	No Assertion Criteria Provided	CA65832860	rs_79535262	1 SubmittersRCV000673829
NM_000784.4(CYP27A1):c.1263+2T>C	SNV Germline	Chr2:218814460	Pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA2112841	rs_777935791	2 SubmittersRCV000671605
NM_000784.4(CYP27A1):c.1264-2A>G	SNV Unknown	Chr2:218814543	Likely pathogenic	Cholestanol storage disease	No Assertion Criteria Provided	CA350593705	rs_1553616478	1 SubmittersRCV000666900
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr)	SNV Germline	Chr2:218812320	Conflicting classifications of pathogenicity	Cholestanol storage disease	Criteria Provided Conflicting Classifications	CA2112643	rs_556745324	3 SubmittersRCV000674249
NM_000784.4(CYP27A1):c.646+2T>C	SNV Germline	Chr2:218812423	Likely pathogenic	Cholestanol storage disease CYP27A1-related disorder	Criteria Provided Single Submitter	CA350585716	rs_1553616253	3 SubmittersRCV000667543 RCV004723050
NM_000784.4(CYP27A1):c.845-2A>G	SNV Germline	Chr2:218812922	Pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350587910	rs_1553616312	2 SubmittersRCV000670919
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter)	SNV Germline	Chr2:218815007	Conflicting classifications of pathogenicity	Cholestanol storage disease	Criteria Provided Conflicting Classifications	CA350596773	rs_374507635	3 SubmittersRCV000670999
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)	SNV Germline	Chr2:218814075	Pathogenic/Likely pathogenic	Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA2112794	rs_533885672	6 SubmittersRCV000670341
NM_000784.4(CYP27A1):c.1185-2A>T	SNV Germline	Chr2:218814378	Pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350592924	rs_1553616457	2 SubmittersRCV000666864
NM_000784.4(CYP27A1):c.1564G>A (p.Val522Met)	SNV Germline	Chr2:218814998	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2112943	rs_151117761	4 SubmittersRCV000728480 RCV001430966 RCV002397502
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp)	SNV Germline	Chr2:218812265	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2112623	rs_61733615	4 SubmittersRCV000728935 RCV002536419 RCV004993982
NM_000784.4(CYP27A1):c.1503G>A (p.Leu501=)	SNV Germline	Chr2:218814937	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Cholestanol storage disease	Criteria Provided Conflicting Classifications	CA431234361	rs_1336081746	3 SubmittersRCV000729072 RCV002388360 RCV003502549
NM_000784.4(CYP27A1):c.132C>T (p.Pro44=)	SNV Germline	Chr2:218782314	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease	Criteria Provided Conflicting Classifications	CA65813746	rs_933195273	2 SubmittersRCV000730135 RCV001506114
NM_000784.4(CYP27A1):c.1029G>T (p.Thr343=)	SNV Germline	Chr2:218814032	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA65834507	rs_771343931	3 SubmittersRCV000730843 RCV002535173 RCV002386300
NM_000784.4(CYP27A1):c.1371C>T (p.Thr457=)	SNV Germline	Chr2:218814652	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease CYP27A1-related disorder	Criteria Provided Conflicting Classifications	CA431414481	rs_1177463640	3 SubmittersRCV000730907 RCV002067109 RCV004748936
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met)	SNV Germline	Chr2:218812617	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2112702	rs_199691576	5 SubmittersRCV000732140 RCV001080340 RCV004027028
NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter)	SNV Germline	Chr2:218814662	Pathogenic	Condition: not provided Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA2112885	rs_771819245	4 SubmittersRCV000733808 RCV001229793
NM_000784.4(CYP27A1):c.1471G>A (p.Ala491Thr)	SNV Germline	Chr2:218814752	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease CYP27A1-related disorder	Criteria Provided Conflicting Classifications	CA2112902	rs_72551323	4 SubmittersRCV000734041 RCV001462205 RCV004748954
NM_000784.4(CYP27A1):c.1569C>T (p.Gly523=)	SNV Germline	Chr2:218815003	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Cholestanol storage disease CYP27A1-related disorder	Criteria Provided Conflicting Classifications	CA2112944	rs_748616891	4 SubmittersRCV000734413 RCV002397517 RCV001490273 RCV003892673
NM_000784.4(CYP27A1):c.256-2A>G	SNV Germline	Chr2:218809575	Pathogenic	Condition: not provided Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA350582845	rs_1559391390	2 SubmittersRCV000734448 RCV001855812
NM_000784.4(CYP27A1):c.1101T>G (p.Gly367=)	SNV Germline	Chr2:218814104	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease	Criteria Provided Conflicting Classifications	CA2112800	rs_752360378	2 SubmittersRCV000734511 RCV002535380
NM_000784.4(CYP27A1):c.699C>A (p.Ile233=)	SNV Germline	Chr2:218812604	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA431414277	rs_1178297854	3 SubmittersRCV000735053 RCV002535415 RCV005318511
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter)	SNV Germline	Chr2:218809719	Pathogenic/Likely pathogenic	Cholestanol storage disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA350583553	rs_1559391480	3 SubmittersRCV000778595 RCV002352292
NM_000784.4(CYP27A1):c.1102G>T (p.Val368Leu)	SNV Germline	Chr2:218814105	Conflicting classifications of pathogenicity	Cholestanol storage disease Condition: not provided	Criteria Provided Conflicting Classifications	CA2112801	rs_145722193	4 SubmittersRCV000967698 RCV001698676
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=)	SNV Germline	Chr2:218812279	Conflicting classifications of pathogenicity	Cholestanol storage disease Condition: not provided CYP27A1-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2112627	rs_142623022	6 SubmittersRCV000926550 RCV001576275 RCV003895636 RCV002336923
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=)	SNV Germline	Chr2:218812607	Conflicting classifications of pathogenicity	Condition: not provided Cholestanol storage disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2112697	rs_371636461	5 SubmittersRCV000939958 RCV001087934 RCV002363435
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=)	SNV Germline	Chr2:218812571	Conflicting classifications of pathogenicity	Cholestanol storage disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2112688	rs_751692931	3 SubmittersRCV000978703 RCV002363498
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter)	SNV Germline	Chr2:218812337	Pathogenic	Cholestanol storage disease CYP27A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2112653	rs_188850202	7 SubmittersRCV000987032 RCV003928633
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg)	SNV Germline	Chr2:218814055	Conflicting classifications of pathogenicity	Cholestanol storage disease	Criteria Provided Conflicting Classifications	CA350591509	rs_1470602732	2 SubmittersRCV000987033
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro)	SNV Germline	Chr2:218814184	Conflicting classifications of pathogenicity	Cholestanol storage disease not specified	Criteria Provided Conflicting Classifications	CA350592767	rs_1406298698	3 SubmittersRCV000987034 RCV004587001
NM_000784.4(CYP27A1):c.33G>A (p.Trp11Ter)	SNV Germline	Chr2:218782215	Pathogenic/Likely pathogenic	Condition: not provided Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA350575424	rs_1319938730	3 SubmittersRCV000997667 RCV003769365
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met)	SNV Germline	Chr2:218814948	Conflicting classifications of pathogenicity	Cholestanol storage disease Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2112935	rs_76822427	8 SubmittersRCV001064382 RCV001701282 RCV004030534
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=)	SNV Germline	Chr2:218809630	Conflicting classifications of pathogenicity	Cholestanol storage disease	Criteria Provided Conflicting Classifications	CA431233634	rs_1306558952	2 SubmittersRCV001138064
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=)	SNV Germline	Chr2:218809643	Conflicting classifications of pathogenicity	Cholestanol storage disease CYP27A1-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2112566	rs_192344487	4 SubmittersRCV001138487 RCV003918723 RCV004609635
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=)	SNV Germline	Chr2:218812282	Conflicting classifications of pathogenicity	Cholestanol storage disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2112630	rs_776260288	3 SubmittersRCV001141051 RCV002339413
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=)	SNV Germline	Chr2:218812300	Conflicting classifications of pathogenicity	Cholestanol storage disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA65832618	rs_200506778	3 SubmittersRCV001141052 RCV002339414
NM_000784.4(CYP27A1):c.1459C>T (p.Gln487Ter)	SNV Germline	Chr2:218814740	Likely pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350595516	rs_1943770060	1 SubmittersRCV001202900
NM_000784.4(CYP27A1):c.1017+1G>A	SNV Germline	Chr2:218813097	Likely pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350589193	rs_1943742261	1 SubmittersRCV001233210
NM_000784.4(CYP27A1):c.1185-2A>G	SNV Germline	Chr2:218814378	Pathogenic/Likely pathogenic	Cholestanol storage disease Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA350592922	rs_1553616457	2 SubmittersRCV001234345 RCV005540333
NM_000784.4(CYP27A1):c.264C>A (p.Tyr88Ter)	SNV Unknown	Chr2:218809585	Likely pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350582894	rs_1943689487	1 SubmittersRCV001264088
NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter)	SNV Germline	Chr2:218809608	Pathogenic/Likely pathogenic	Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA350583023	rs_1943689766	2 SubmittersRCV001264207
NM_000784.4(CYP27A1):c.307C>T (p.Gln103Ter)	SNV Unknown	Chr2:218809628	Likely pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350583136	rs_1943689944	1 SubmittersRCV001264208
NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter)	SNV Germline	Chr2:218809679	Pathogenic/Likely pathogenic	Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA350583382	rs_1943690848	2 SubmittersRCV001264209
NM_000784.4(CYP27A1):c.608C>A (p.Ser203Ter)	SNV Unknown	Chr2:218812383	Likely pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350585467	rs_186812403	1 SubmittersRCV001264210
NM_000784.4(CYP27A1):c.657C>A (p.Tyr219Ter)	SNV Unknown	Chr2:218812562	Likely pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350585888	rs_1414259537	1 SubmittersRCV001264211
NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter)	SNV Germline	Chr2:218812708	Pathogenic/Likely pathogenic	Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA350587337	rs_1943736070	2 SubmittersRCV001264212
NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter)	SNV Germline	Chr2:218813034	Pathogenic/Likely pathogenic	Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA350588722	rs_1943741125	2 SubmittersRCV001264213
NM_000784.4(CYP27A1):c.813C>G (p.Tyr271Ter)	SNV Germline	Chr2:218812718	Pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350587479	rs_532134925	1 SubmittersRCV001383667
NM_000784.4(CYP27A1):c.506C>A (p.Ala169Glu)	SNV Germline	Chr2:218812281	Conflicting classifications of pathogenicity	Cholestanol storage disease Condition: not provided	Criteria Provided Conflicting Classifications	CA2112629	rs_59443548	2 SubmittersRCV001428807 RCV004793487
NM_000784.4(CYP27A1):c.1456A>T (p.Met486Leu)	SNV Germline	Chr2:218814737	Conflicting classifications of pathogenicity	Cholestanol storage disease Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA2112898	rs_150585977	3 SubmittersRCV001434529 RCV002395995 RCV003151857
NM_000784.4(CYP27A1):c.593C>T (p.Ser198Leu)	SNV Germline	Chr2:218812368	Conflicting classifications of pathogenicity	Cholestanol storage disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2112660	rs_563736306	2 SubmittersRCV001494848 RCV002359106
NM_000784.4(CYP27A1):c.1476+2T>C	SNV Germline	Chr2:218814759	Pathogenic/Likely pathogenic	Condition: not provided Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA350595700	rs_1165952837	4 SubmittersRCV001531954 RCV003470853
NM_000784.4(CYP27A1):c.1333C>T (p.Gln445Ter)	SNV Germline	Chr2:218814614	Pathogenic	Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA350594234	rs_1325218192	4 SubmittersRCV001902771
NM_000784.4(CYP27A1):c.1018-1G>C	SNV Germline	Chr2:218814020	Likely pathogenic	Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA350591129	rs_1575206658	2 SubmittersRCV002032326
NM_000784.4(CYP27A1):c.1087G>T (p.Glu363Ter)	SNV Germline	Chr2:218814090	Pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA65834619	rs_72551321	1 SubmittersRCV001888764
NM_000784.4(CYP27A1):c.447-1G>A	SNV Germline	Chr2:218812221	Likely pathogenic	Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA350584756	rs_2105979879	2 SubmittersRCV001998853
NM_000784.4(CYP27A1):c.1191C>A (p.Tyr397Ter)	SNV Germline	Chr2:218814386	Pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350592980	rs_2105981050	1 SubmittersRCV001908625
NM_000784.4(CYP27A1):c.253C>T (p.Gln85Ter)	SNV Germline	Chr2:218782435	Pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350577096	rs_1333458369	1 SubmittersRCV001900808
NM_000784.4(CYP27A1):c.1436G>T (p.Arg479Leu)	SNV Germline	Chr2:218814717	Likely pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA2112897	rs_199638075	1 SubmittersRCV001976677
NM_000784.4(CYP27A1):c.804G>T (p.Trp268Cys)	SNV Germline	Chr2:218812709	Likely pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350587346	rs_1943736101	1 SubmittersRCV002025260
NM_000784.4(CYP27A1):c.1184+1G>C	SNV Germline	Chr2:218814188	Pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350592814	rs_587778777	1 SubmittersRCV001946909
NM_000784.4(CYP27A1):c.643G>T (p.Glu215Ter)	SNV Germline	Chr2:218812418	Pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA2112669	rs_761663976	1 SubmittersRCV001949995
NM_000784.4(CYP27A1):c.1435C>A (p.Arg479Ser)	SNV Germline	Chr2:218814716	Pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA2112894	rs_72551322	1 SubmittersRCV001951410
NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter)	SNV Germline	Chr2:218782214	Pathogenic/Likely pathogenic	Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA350575413	rs_1398584213	2 SubmittersRCV001907858
NM_000784.4(CYP27A1):c.1373C>T (p.Pro458Leu)	SNV Germline	Chr2:218814654	Conflicting classifications of pathogenicity	Cardiovascular phenotype Cholestanol storage disease	Criteria Provided Conflicting Classifications	CA2112881	rs_781360671	2 SubmittersRCV004611985 RCV001940132
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser)	SNV Germline	Chr2:218814028	Conflicting classifications of pathogenicity	Cholestanol storage disease CYP27A1-related disorder not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2112785	rs_778458082	5 SubmittersRCV002186992 RCV003403673 RCV002266097 RCV002382282
NM_000784.4(CYP27A1):c.547G>A (p.Asp183Asn)	SNV Germline	Chr2:218812322	Conflicting classifications of pathogenicity	Cholestanol storage disease Condition: not provided	Criteria Provided Conflicting Classifications	CA2112646	rs_751280804	2 SubmittersRCV002208075 RCV004793739
NM_000784.4(CYP27A1):c.563G>A (p.Arg188Gln)	SNV Germline	Chr2:218812338	Conflicting classifications of pathogenicity	Cholestanol storage disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2112654	rs_754310499	2 SubmittersRCV002152294 RCV002346454
NM_000784.4(CYP27A1):c.1126C>T (p.Gln376Ter)	SNV Unknown	Chr2:218814129	Likely pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350592189	rs_1943756375	1 SubmittersRCV002306539
NM_000784.4(CYP27A1):c.494T>A (p.Leu165Ter)	SNV Unknown	Chr2:218812269	Likely pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350584904	rs_2470226435	1 SubmittersRCV002309191
NM_000784.4(CYP27A1):c.703G>T (p.Glu235Ter)	SNV Unknown	Chr2:218812608	Likely pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350586339	rs_149897566	1 SubmittersRCV002310214
NM_000784.4(CYP27A1):c.724A>T (p.Arg242Ter)	SNV Unknown	Chr2:218812629	Likely pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350586531	rs_2470226967	1 SubmittersRCV002308422
NM_000784.4(CYP27A1):c.55G>A (p.Gly19Ser)	SNV Germline	Chr2:218782237	Conflicting classifications of pathogenicity	Cardiovascular phenotype Cholestanol storage disease Condition: not provided	Criteria Provided Conflicting Classifications	CA2112504	rs_758959471	3 SubmittersRCV002344890 RCV003096806 RCV004793781
NM_000784.4(CYP27A1):c.379C>G (p.Arg127Gly)	SNV Germline	Chr2:218809700	Likely pathogenic	Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA2112579	rs_201114717	3 SubmittersRCV002465059
NM_000784.4(CYP27A1):c.1130A>G (p.His377Arg)	SNV Germline	Chr2:218814133	Conflicting classifications of pathogenicity	Cholestanol storage disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2112810	rs_41272685	2 SubmittersRCV003068444 RCV005323314
NM_000784.4(CYP27A1):c.255G>A (p.Gln85=)	SNV Germline	Chr2:218782437	Conflicting classifications of pathogenicity	Cholestanol storage disease	Criteria Provided Conflicting Classifications	CA2112540	rs_374941032	2 SubmittersRCV003081227
NM_000784.4(CYP27A1):c.1412A>T (p.Tyr471Phe)	SNV Germline	Chr2:218814693	Conflicting classifications of pathogenicity	Cholestanol storage disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA350595051	rs_776275363	2 SubmittersRCV003090886 RCV004614344
NM_000784.4(CYP27A1):c.646+1G>A	SNV Germline	Chr2:218812422	Pathogenic/Likely pathogenic	Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA350585712	rs_79535262	3 SubmittersRCV003069580
NM_000784.4(CYP27A1):c.1436G>C (p.Arg479Pro)	SNV Germline	Chr2:218814717	Likely pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA2112896	rs_199638075	1 SubmittersRCV003086015
NM_000784.4(CYP27A1):c.844+1G>T	SNV Germline	Chr2:218812750	Pathogenic	Cholestanol storage disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA350587820	rs_397515354	3 SubmittersRCV002651606 RCV004700977
NM_000784.4(CYP27A1):c.1476+2T>A	SNV Germline	Chr2:218814759	Pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350595695	rs_1165952837	1 SubmittersRCV002612937
NM_000784.4(CYP27A1):c.1263+1G>T	SNV Germline	Chr2:218814459	Pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350593583	rs_397515355	1 SubmittersRCV002601855
NM_000784.4(CYP27A1):c.825G>A (p.Trp275Ter)	SNV Germline	Chr2:218812730	Pathogenic/Likely pathogenic	Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA350587610	rs_1425208118	2 SubmittersRCV002640045
NM_000784.4(CYP27A1):c.238C>T (p.Gln80Ter)	SNV Germline	Chr2:218782420	Pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350576986	rs_1943401478	1 SubmittersRCV002627673
NM_000784.4(CYP27A1):c.667G>T (p.Glu223Ter)	SNV Germline	Chr2:218812572	Pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350586007	rs_760323157	1 SubmittersRCV002706559
NM_000784.4(CYP27A1):c.410G>C (p.Arg137Pro)	SNV Germline	Chr2:218809731	Likely pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350583952	rs_587778818	1 SubmittersRCV002834003
NM_000784.4(CYP27A1):c.1421G>C (p.Arg474Pro)	SNV Germline	Chr2:218814702	Likely pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350595116	rs_121908097	1 SubmittersRCV002867753
NM_000784.4(CYP27A1):c.389T>A (p.Met130Lys)	SNV Unknown	Chr2:218809710	Likely pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350583513	rs_1169227791	1 SubmittersRCV003475577
NM_000784.4(CYP27A1):c.845-1G>C	SNV Germline	Chr2:218812923	Pathogenic/Likely pathogenic	Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA350587916	rs_397515353	2 SubmittersRCV003466089
NM_000784.4(CYP27A1):c.522T>A (p.Tyr174Ter)	SNV Unknown	Chr2:218812297	Likely pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350585023	rs_1943725257	1 SubmittersRCV003466090
NM_000784.4(CYP27A1):c.1477-1G>A	SNV Unknown	Chr2:218814910	Likely pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350595867	rs_1454908929	1 SubmittersRCV003459944
NM_000784.4(CYP27A1):c.1453G>T (p.Glu485Ter)	SNV Unknown	Chr2:218814734	Likely pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350595437	rs_1301870550	1 SubmittersRCV003459945
NM_000784.4(CYP27A1):c.571C>T (p.Gln191Ter)	SNV Unknown	Chr2:218812346	Pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350585255	rs_1323697541	1 SubmittersRCV003466097
NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter)	SNV Germline	Chr2:218812236	Pathogenic/Likely pathogenic	Cholestanol storage disease	Criteria Provided Multiple Submitters No Conflicts	CA350584791	rs_2470226358	2 SubmittersRCV003466098
NM_000784.4(CYP27A1):c.647-1G>A	SNV Germline	Chr2:218812551	Pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350585792	rs_587778804	1 SubmittersRCV003504526
NM_000784.4(CYP27A1):c.1037G>A (p.Trp346Ter)	SNV Germline	Chr2:218814040	Pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350591348	rs_2470228964	1 SubmittersRCV003502153
NM_000784.4(CYP27A1):c.115A>T (p.Lys39Ter)	SNV Germline	Chr2:218782297	Pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350576025	rs_2470201839	1 SubmittersRCV003504062
NM_000784.4(CYP27A1):c.465C>A (p.Tyr155Ter)	SNV Germline	Chr2:218812240	Pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter	CA350584803	rs_553140875	1 SubmittersRCV003611307
NM_000784.4(CYP27A1):c.160C>T (p.Gln54Ter)	SNV Unknown	Chr2:218782342	Likely pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter		rs_1314269374	1 SubmittersRCV004575758
NM_000784.4(CYP27A1):c.346C>T (p.Gln116Ter)	SNV Unknown	Chr2:218809667	Pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter		rs_2470223574	1 SubmittersRCV004575759
NM_000784.4(CYP27A1):c.646+1G>T	SNV Unknown	Chr2:218812422	Likely pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter		rs_79535262	1 SubmittersRCV004575761
NM_000784.4(CYP27A1):c.1004C>T (p.Ala335Val)	SNV Germline	Chr2:218813083	Likely pathogenic	Cholestanol storage disease	Criteria Provided Single Submitter			1 SubmittersRCV005018647
NM_000784.4(CYP27A1):c.24G>A (p.Arg8=)	SNV Germline	Chr2:218782206	Conflicting classifications of pathogenicity	Cholestanol storage disease Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005157657 RCV005416790
NM_000784.4(CYP27A1):c.256-1G>C	SNV Germline	Chr2:218809576	Pathogenic	Cholestanol storage disease	No Assertion Criteria Provided			1 SubmittersRCV005619034
NM_000784.4(CYP27A1):c.487C>T (p.Gln163Ter)	SNV Germline	Chr2:218812262	Likely pathogenic	Cholestanol storage disease	No Assertion Criteria Provided			1 SubmittersRCV005619066

NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)

SNV
Germline

Chr2:218814716

Pathogenic

Cholestanol storage disease
Condition: not provided
CYP27A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA340210

rs_72551322

15 SubmittersRCV000004476 RCV000733099 RCV003398444

NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)

SNV
Germline

Chr2:218814186

Pathogenic/Likely pathogenic

Cholestanol storage disease
Condition: not provided
Intellectual disability
Cardiovascular phenotype
CYP27A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA340211

rs_121908096

25 SubmittersRCV000004477 RCV000275162 RCV001252460 RCV005318309 RCV003974793

NM_000784.4(CYP27A1):c.845-1G>A

SNV
Germline

Chr2:218812923

Pathogenic

Cholestanol storage disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340212

rs_397515353

8 SubmittersRCV000004478 RCV000522490

NM_000784.4(CYP27A1):c.844+1G>A

SNV
Germline

Chr2:218812750

Pathogenic

Cholestanol storage disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340213

rs_397515354

8 SubmittersRCV000004479 RCV001268682

NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)

SNV
Germline

Chr2:218814702

Pathogenic

Cholestanol storage disease
Condition: not provided
CYP27A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA340214

rs_121908097

13 SubmittersRCV000004480 RCV001650828 RCV003415650

NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)

SNV
Germline

Chr2:218814701

Pathogenic/Likely pathogenic

Cholestanol storage disease
Condition: not provided
CYP27A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA340215

rs_121908098

15 SubmittersRCV000004481 RCV002264907 RCV003982823

NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)

SNV
Germline

Chr2:218814409

Pathogenic/Likely pathogenic

Cholestanol storage disease
Condition: not provided
Intellectual disability

Criteria Provided
Multiple Submitters
No Conflicts

CA340216

rs_121908099

14 SubmittersRCV000004482 RCV000726759 RCV001252459

NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)

SNV
Germline

Chr2:218814186

Pathogenic/Likely pathogenic

Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA340217

rs_121908096

6 SubmittersRCV000004483

NM_000784.4(CYP27A1):c.1263+1G>A

SNV
Germline

Chr2:218814459

Pathogenic

Cholestanol storage disease
Condition: not provided
CYP27A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA340218

rs_397515355

12 SubmittersRCV000004484 RCV000519339 RCV004748497

NM_000784.4(CYP27A1):c.434G>A (p.Gly145Glu)

SNV
Germline

Chr2:218809755

Pathogenic

Cholestanol storage disease

No Assertion Criteria Provided

CA340219

rs_72551313

2 SubmittersRCV000004485

NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)

SNV
Germline

Chr2:218813095

Pathogenic/Likely pathogenic

Cholestanol storage disease
Condition: not provided
Cardiovascular phenotype
CYP27A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA340221

rs_121908102

22 SubmittersRCV000004487 RCV000518366 RCV005549905 RCV003430633

NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)

SNV
Germline

Chr2:218814716

Conflicting classifications of pathogenicity

Cholestanol storage disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA340223

rs_72551322

11 SubmittersRCV000004488 RCV000597433

NM_000784.4(CYP27A1):c.1017G>C (p.Thr339=)

SNV
Unknown

Chr2:218813096

Pathogenic

Cholestanol storage disease

No Assertion Criteria Provided

CA345152

rs_200553205

1 SubmittersRCV000056065

NM_000784.4(CYP27A1):c.1061A>G (p.Asp354Gly)

SNV
Unknown

Chr2:218814064

Pathogenic

Cholestanol storage disease

No Assertion Criteria Provided

CA345156

rs_72551320

1 SubmittersRCV000056067

NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)

SNV
Germline

Chr2:218814154

Conflicting classifications of pathogenicity

Cholestanol storage disease
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA203235

rs_41272687

21 SubmittersRCV000056071 RCV000179342 RCV001698579 RCV002345362

NM_000784.4(CYP27A1):c.1184+1G>A

SNV
Germline

Chr2:218814188

Pathogenic

Cholestanol storage disease
Condition: not provided
CYP27A1-related disorder
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA345161

rs_587778777

24 SubmittersRCV000056073 RCV000255284 RCV004748547 RCV004018984

NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)

SNV
Germline

Chr2:218814187

Pathogenic/Likely pathogenic

Cholestanol storage disease
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA345162

rs_587778778

12 SubmittersRCV000056074 RCV000593893 RCV005318320

NM_000784.4(CYP27A1):c.1185-1G>T

SNV
Germline

Chr2:218814379

Pathogenic

Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA345164

rs_587778779

4 SubmittersRCV000056075

NM_000784.4(CYP27A1):c.1202C>G (p.Pro401Arg)

SNV
Unknown

Chr2:218814397

Pathogenic

Cholestanol storage disease

No Assertion Criteria Provided

CA345165

rs_587778780

1 SubmittersRCV000056076

NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)

SNV
Germline

Chr2:218814404

Conflicting classifications of pathogenicity

Cholestanol storage disease

Criteria Provided
Conflicting Classifications

CA345167

rs_587778781

5 SubmittersRCV000056077

NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)

SNV
Germline

Chr2:218814408

Pathogenic/Likely pathogenic

Cholestanol storage disease
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA345169

rs_573951598

10 SubmittersRCV000056078 RCV000727395 RCV004992000

NM_000784.4(CYP27A1):c.1222G>T (p.Glu408Ter)

SNV
Unknown

Chr2:218814417

Pathogenic

Cholestanol storage disease

No Assertion Criteria Provided

CA345171

rs_587778782

1 SubmittersRCV000056079

NM_000784.4(CYP27A1):c.1263+5G>T

SNV
Germline

Chr2:218814463

Pathogenic

Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA345175

rs_587778784

3 SubmittersRCV000056081

NM_000784.4(CYP27A1):c.1264-1G>A

SNV
Germline

Chr2:218814544

Pathogenic

Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA345176

rs_587778785

3 SubmittersRCV000056084

NM_000784.4(CYP27A1):c.1402C>T (p.Pro468Ser)

SNV
Unknown

Chr2:218814683

Pathogenic

Cholestanol storage disease

No Assertion Criteria Provided

CA345179

rs_587778787

1 SubmittersRCV000056090

NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)

SNV
Germline

Chr2:218814696

Conflicting classifications of pathogenicity

Cholestanol storage disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA345181

rs_200883871

9 SubmittersRCV000056091 RCV001785469

NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)

SNV
Germline

Chr2:218809700

Pathogenic

Cholestanol storage disease
Condition: not provided
CYP27A1-related disorder
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA345193

rs_201114717

12 SubmittersRCV000056110 RCV001267948 RCV003415826 RCV002251956

NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)

SNV
Germline

Chr2:218809701

Pathogenic

Cholestanol storage disease
Condition: not provided
CYP27A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA345195

rs_376230356

10 SubmittersRCV000056111 RCV003480049 RCV004748548

NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)

SNV
Germline

Chr2:218809730

Conflicting classifications of pathogenicity

Cholestanol storage disease
Condition: not provided
CYP27A1-related disorder

Criteria Provided
Conflicting Classifications

CA345197

rs_72551312

10 SubmittersRCV000056112 RCV001268892 RCV003894909

NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg)

SNV
Germline

Chr2:218809754

Conflicting classifications of pathogenicity

Cholestanol storage disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA345199

rs_587778795

6 SubmittersRCV000056113 RCV001092428 RCV005406795

NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)

SNV
Germline

Chr2:218809756

Pathogenic/Likely pathogenic

Cholestanol storage disease
CYP27A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA345201

rs_587778796

8 SubmittersRCV000056114 RCV003915020

NM_000784.4(CYP27A1):c.446+1G>A

SNV
Germline

Chr2:218809768

Pathogenic

Cholestanol storage disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA345205

rs_587778797

8 SubmittersRCV000056116 RCV000733190

NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter)

SNV
Germline

Chr2:218812250

Pathogenic

Cholestanol storage disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA345208

rs_72551314

6 SubmittersRCV000056118 RCV000444884

NM_000784.4(CYP27A1):c.583G>T (p.Glu195Ter)

SNV
Unknown

Chr2:218812358

Pathogenic

Cholestanol storage disease

No Assertion Criteria Provided

CA345212

rs_587778800

1 SubmittersRCV000056123

NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)

SNV
Germline

Chr2:218812421

Pathogenic/Likely pathogenic

Cholestanol storage disease
CYP27A1-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA345222

rs_201346271

15 SubmittersRCV000056130 RCV003964910 RCV001268441

NM_000784.4(CYP27A1):c.647-1G>T

SNV
Unknown

Chr2:218812551

Pathogenic

Cholestanol storage disease

No Assertion Criteria Provided

CA345224

rs_587778804

1 SubmittersRCV000056131

NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter)

SNV
Germline

Chr2:218812596

Pathogenic

Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA345226

rs_72551315

5 SubmittersRCV000056136

NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter)

SNV
Germline

Chr2:218812650

Pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA345230

rs_72551316

3 SubmittersRCV000056140

NM_000784.4(CYP27A1):c.752C>A (p.Ser251Ter)

SNV
Unknown

Chr2:218812657

Pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA345232

rs_587778808

2 SubmittersRCV000056141

NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)

SNV
Germline

Chr2:218812681

Conflicting classifications of pathogenicity

Cholestanol storage disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA345234

rs_72551317

8 SubmittersRCV000056144 RCV002292465

NM_000784.4(CYP27A1):c.779G>A (p.Trp260Ter)

SNV
Unknown

Chr2:218812684

Pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA345236

rs_587778810

2 SubmittersRCV000056145

NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)

SNV
Germline

Chr2:218812713

Pathogenic

Cholestanol storage disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA345241

rs_72551318

12 SubmittersRCV000056148 RCV000732382

NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter)

SNV
Germline

Chr2:218812929

Pathogenic

Cholestanol storage disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA345246

rs_72551319

6 SubmittersRCV000056153 RCV001092429

NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)

SNV
Germline

Chr2:218809731

Pathogenic/Likely pathogenic

Cholestanol storage disease
Condition: not provided
CYP27A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA345260

rs_587778818

12 SubmittersRCV000056176 RCV001267947 RCV003894910

NM_000784.4(CYP27A1):c.399G>A (p.Trp133Ter)

SNV
Unknown

Chr2:218809720

Pathogenic

Cholestanol storage disease

No Assertion Criteria Provided

CA350583559

rs_1160640803

1 SubmittersRCV000056246

NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys)

SNV
Germline

Chr2:218814623

Conflicting classifications of pathogenicity

Condition: not provided
Regression of motor development with severe dystonia and corresponding basal ganglia lesions
not specified
Cardiovascular phenotype
Cholestanol storage disease

Criteria Provided
Conflicting Classifications

CA186041

rs_730882199

6 SubmittersRCV000171331 RCV000162100 RCV001804890 RCV004019950 RCV001850285

NM_000784.4(CYP27A1):c.-6C>T

SNV
Germline

Chr2:218782177

Conflicting classifications of pathogenicity

not specified
Cholestanol storage disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200332

rs_199891090

4 SubmittersRCV000173170 RCV000294686 RCV001682882

NM_000784.4(CYP27A1):c.646+4C>T

SNV
Germline

Chr2:218812425

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
CYP27A1-related disorder

Criteria Provided
Conflicting Classifications

CA243191

rs_191313794

5 SubmittersRCV000177089 RCV001082198 RCV003965279

NM_000784.4(CYP27A1):c.891G>T (p.Leu297=)

SNV
Germline

Chr2:218812970

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
Cardiovascular phenotype
CYP27A1-related disorder

Criteria Provided
Conflicting Classifications

CA245977

rs_144455258

5 SubmittersRCV000178807 RCV001089152 RCV002444714 RCV003967435

NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr2:218782184

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
not specified
CYP27A1-related disorder

Criteria Provided
Conflicting Classifications

CA2112501

rs_759003992

7 SubmittersRCV000286244 RCV000351883 RCV001731556 RCV003422191

NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln)

SNV
Germline

Chr2:218812266

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
Intellectual disability
Cardiovascular phenotype
CYP27A1-related disorder

Criteria Provided
Conflicting Classifications

CA2112624

rs_148417330

8 SubmittersRCV000299535 RCV001138491 RCV001252458 RCV002347996 RCV003417892

NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=)

SNV
Germline

Chr2:218813096

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
not specified

Criteria Provided
Conflicting Classifications

CA2112770

rs_200553205

7 SubmittersRCV000397921 RCV000665225 RCV002282102

NM_000784.4(CYP27A1):c.120C>T (p.Ala40=)

SNV
Germline

Chr2:218782302

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
CYP27A1-related disorder
Cholestanol storage disease

Criteria Provided
Conflicting Classifications

CA2112516

rs_150389057

6 SubmittersRCV000367259 RCV002356385 RCV003930117 RCV001431442

NM_000784.4(CYP27A1):c.609G>A (p.Ser203=)

SNV
Germline

Chr2:218812384

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
Cardiovascular phenotype
CYP27A1-related disorder

Criteria Provided
Conflicting Classifications

CA2112665

rs_148132118

4 SubmittersRCV000396852 RCV001078696 RCV002356386 RCV003897621

NM_000784.4(CYP27A1):c.792G>A (p.Val264=)

SNV
Germline

Chr2:218812697

Conflicting classifications of pathogenicity

Cholestanol storage disease
not specified
Cardiovascular phenotype
CYP27A1-related disorder

Criteria Provided
Conflicting Classifications

CA2112718

rs_144018609

6 SubmittersRCV000265806 RCV000284553 RCV002418120 RCV003967766

NM_000784.4(CYP27A1):c.1419C>T (p.Val473=)

SNV
Germline

Chr2:218814700

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA2112891

rs_138596741

8 SubmittersRCV000513426 RCV000625221 RCV002392807 RCV001706418

NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)

SNV
Germline

Chr2:218809597

Conflicting classifications of pathogenicity

Cholestanol storage disease
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2112559

rs_141519183

10 SubmittersRCV000293606 RCV000316531 RCV001700029 RCV005318362

NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser)

SNV
Germline

Chr2:218812311

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2112641

rs_145080072

5 SubmittersRCV000373213 RCV000397675 RCV002348013

NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln)

SNV
Germline

Chr2:218812353

Conflicting classifications of pathogenicity

not specified
Cholestanol storage disease
Condition: not provided
CYP27A1-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2112656

rs_181649030

7 SubmittersRCV000260963 RCV000363976 RCV002244740 RCV003910011 RCV004992161

NM_000784.4(CYP27A1):c.1311C>T (p.Ala437=)

SNV
Germline

Chr2:218814592

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease

Criteria Provided
Conflicting Classifications

CA10606938

rs_886044581

2 SubmittersRCV000309386 RCV001408726

NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg)

SNV
Germline

Chr2:218814117

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2112807

rs_369969903

5 SubmittersRCV000368208 RCV001138169 RCV002436128

NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys)

SNV
Germline

Chr2:218812608

Conflicting classifications of pathogenicity

Cholestanol storage disease
Condition: not provided
CYP27A1-related disorder

Criteria Provided
Conflicting Classifications

CA2112698

rs_149897566

6 SubmittersRCV000400254 RCV000729208 RCV003972410

NM_000784.4(CYP27A1):c.789C>T (p.Pro263=)

SNV
Germline

Chr2:218812694

Conflicting classifications of pathogenicity

Cholestanol storage disease
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2112716

rs_143600636

9 SubmittersRCV000358090 RCV000728807 RCV001700067 RCV002418198

NM_000784.4(CYP27A1):c.747G>A (p.Gln249=)

SNV
Germline

Chr2:218812652

Conflicting classifications of pathogenicity

Cholestanol storage disease
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2112710

rs_764766872

5 SubmittersRCV000305754 RCV001289110 RCV002392897

NM_000784.3(CYP27A1):c.-205C>A

SNV
Germline

Chr2:218781978

Conflicting classifications of pathogenicity

Cholestanol storage disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10614327

rs_187723732

2 SubmittersRCV000281692 RCV001549986

NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys)

SNV
Germline

Chr2:218812950

Conflicting classifications of pathogenicity

Cholestanol storage disease
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2112751

rs_190012697

7 SubmittersRCV000353347 RCV001699326 RCV002374576

NM_000784.4(CYP27A1):c.1184+9G>T

SNV
Germline

Chr2:218814196

Conflicting classifications of pathogenicity

Cholestanol storage disease
CYP27A1-related disorder

Criteria Provided
Conflicting Classifications

CA2112814

rs_200457116

4 SubmittersRCV000273860 RCV003912409

NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter)

SNV
Germline

Chr2:218812926

Pathogenic/Likely pathogenic

Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16044245

rs_1057519469

2 SubmittersRCV000416454

NM_000784.4(CYP27A1):c.1477-2A>C

SNV
Germline

Chr2:218814909

Pathogenic/Likely pathogenic

Condition: not provided
Cholestanol storage disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA2112924

rs_111570247

5 SubmittersRCV000432466 RCV001833525 RCV004022314

NM_000784.4(CYP27A1):c.446+1G>T

SNV
Germline

Chr2:218809768

Pathogenic

Condition: not provided
Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA350584205

rs_587778797

3 SubmittersRCV000732194 RCV001386295

NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)

SNV
Germline

Chr2:218814972

Conflicting classifications of pathogenicity

Cholestanol storage disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2112939

rs_144701596

7 SubmittersRCV000670762 RCV000727184

NM_000784.4(CYP27A1):c.624C>T (p.Leu208=)

SNV
Germline

Chr2:218812399

Conflicting classifications of pathogenicity

Cholestanol storage disease
Cardiovascular phenotype
Condition: not provided
CYP27A1-related disorder

Criteria Provided
Conflicting Classifications

CA65832846

rs_200060245

7 SubmittersRCV001504256 RCV002368002 RCV000593341 RCV003915697

NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His)

SNV
Germline

Chr2:218814717

Conflicting classifications of pathogenicity

Condition: not provided
CYP27A1-related disorder
Cholestanol storage disease

Criteria Provided
Conflicting Classifications

CA2112895

rs_199638075

5 SubmittersRCV000596853 RCV003420030 RCV001243512

NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro)

SNV
Germline

Chr2:218812266

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
Cardiovascular phenotype
CYP27A1-related disorder

Criteria Provided
Conflicting Classifications

CA2112625

rs_148417330

13 SubmittersRCV000594613 RCV000765608 RCV004024736 RCV003420031

NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly)

SNV
Germline

Chr2:218812302

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease

Criteria Provided
Conflicting Classifications

CA2112638

rs_748325824

3 SubmittersRCV000593909 RCV000804550

NM_000784.4(CYP27A1):c.693A>T (p.Arg231=)

SNV
Germline

Chr2:218812598

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Cholestanol storage disease

Criteria Provided
Conflicting Classifications

CA431414266

rs_1187804477

3 SubmittersRCV000594622 RCV002368014 RCV001860187

NM_000784.4(CYP27A1):c.1185-1G>A

SNV
Germline

Chr2:218814379

Pathogenic

Condition: not provided
Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA350592934

rs_587778779

4 SubmittersRCV000598414 RCV001067046

NM_000784.4(CYP27A1):c.420C>T (p.His140=)

SNV
Germline

Chr2:218809741

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
Cardiovascular phenotype
CYP27A1-related disorder

Criteria Provided
Conflicting Classifications

CA2112585

rs_139415581

5 SubmittersRCV000595739 RCV001078847 RCV003302916 RCV003900335

NM_000784.4(CYP27A1):c.315C>T (p.His105=)

SNV
Germline

Chr2:218809636

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
CYP27A1-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2112564

rs_753981913

5 SubmittersRCV000595224 RCV001087651 RCV004748840 RCV003160040

NM_000784.4(CYP27A1):c.790G>A (p.Val264Met)

SNV
Germline

Chr2:218812695

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2112717

rs_201500822

4 SubmittersRCV000596057 RCV001429604 RCV004024796

NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile)

SNV
Germline

Chr2:218782330

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2112521

rs_149101812

5 SubmittersRCV000712499 RCV001498426 RCV002395534

NM_000784.4(CYP27A1):c.126A>G (p.Gly42=)

SNV
Germline

Chr2:218782308

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA431413972

rs_1238340088

3 SubmittersRCV000593653 RCV001418586 RCV002377237

NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter)

SNV
Germline

Chr2:218812965

Pathogenic

Condition: not provided
Cholestanol storage disease
CYP27A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2112755

rs_575064188

7 SubmittersRCV000597135 RCV001045736 RCV004748850

NM_000784.4(CYP27A1):c.515C>T (p.Ala172Val)

SNV
Germline

Chr2:218812290

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2112632

rs_200753815

3 SubmittersRCV000595155 RCV001423428 RCV005550004

NM_000784.4(CYP27A1):c.1434C>T (p.Gly478=)

SNV
Germline

Chr2:218814715

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
Cardiovascular phenotype
CYP27A1-related disorder

Criteria Provided
Conflicting Classifications

CA2112892

rs_139279260

4 SubmittersRCV000597026 RCV001088579 RCV002395540 RCV003900356

NM_000784.4(CYP27A1):c.1477-3C>T

SNV
Germline

Chr2:218814908

Conflicting classifications of pathogenicity

not specified
Cholestanol storage disease
CYP27A1-related disorder

Criteria Provided
Conflicting Classifications

CA2112922

rs_78938783

3 SubmittersRCV000610458 RCV001860278 RCV003905608

NM_000784.4(CYP27A1):c.193C>T (p.Gln65Ter)

SNV
Unknown

Chr2:218782375

Likely pathogenic

Cholestanol storage disease

No Assertion Criteria Provided

CA350576555

rs_1553614310

1 SubmittersRCV000665890

NM_000784.4(CYP27A1):c.256-1G>T

SNV
Germline

Chr2:218809576

Pathogenic

Cholestanol storage disease
Condition: not provided
CYP27A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA65830321

rs_886556800

6 SubmittersRCV000668882 RCV000728856 RCV004748891

NM_000784.4(CYP27A1):c.1185-2A>C

SNV
Unknown

Chr2:218814378

Likely pathogenic

Cholestanol storage disease

No Assertion Criteria Provided

CA350592919

rs_1553616457

1 SubmittersRCV000669626

NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)

SNV
Germline

Chr2:218814971

Pathogenic/Likely pathogenic

Cholestanol storage disease
CYP27A1-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2112938

rs_560108684

8 SubmittersRCV000673959 RCV004748897 RCV005620383

NM_000784.4(CYP27A1):c.646+1G>C

SNV
Unknown

Chr2:218812422

Likely pathogenic

Cholestanol storage disease

No Assertion Criteria Provided

CA65832860

rs_79535262

1 SubmittersRCV000673829

NM_000784.4(CYP27A1):c.1263+2T>C

SNV
Germline

Chr2:218814460

Pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA2112841

rs_777935791

2 SubmittersRCV000671605

NM_000784.4(CYP27A1):c.1264-2A>G

SNV
Unknown

Chr2:218814543

Likely pathogenic

Cholestanol storage disease

No Assertion Criteria Provided

CA350593705

rs_1553616478

1 SubmittersRCV000666900

NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr)

SNV
Germline

Chr2:218812320

Conflicting classifications of pathogenicity

Cholestanol storage disease

Criteria Provided
Conflicting Classifications

CA2112643

rs_556745324

3 SubmittersRCV000674249

NM_000784.4(CYP27A1):c.646+2T>C

SNV
Germline

Chr2:218812423

Likely pathogenic

Cholestanol storage disease
CYP27A1-related disorder

Criteria Provided
Single Submitter

CA350585716

rs_1553616253

3 SubmittersRCV000667543 RCV004723050

NM_000784.4(CYP27A1):c.845-2A>G

SNV
Germline

Chr2:218812922

Pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350587910

rs_1553616312

2 SubmittersRCV000670919

NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter)

SNV
Germline

Chr2:218815007

Conflicting classifications of pathogenicity

Cholestanol storage disease

Criteria Provided
Conflicting Classifications

CA350596773

rs_374507635

3 SubmittersRCV000670999

NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)

SNV
Germline

Chr2:218814075

Pathogenic/Likely pathogenic

Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA2112794

rs_533885672

6 SubmittersRCV000670341

NM_000784.4(CYP27A1):c.1185-2A>T

SNV
Germline

Chr2:218814378

Pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350592924

rs_1553616457

2 SubmittersRCV000666864

NM_000784.4(CYP27A1):c.1564G>A (p.Val522Met)

SNV
Germline

Chr2:218814998

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2112943

rs_151117761

4 SubmittersRCV000728480 RCV001430966 RCV002397502

NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp)

SNV
Germline

Chr2:218812265

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2112623

rs_61733615

4 SubmittersRCV000728935 RCV002536419 RCV004993982

NM_000784.4(CYP27A1):c.1503G>A (p.Leu501=)

SNV
Germline

Chr2:218814937

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Cholestanol storage disease

Criteria Provided
Conflicting Classifications

CA431234361

rs_1336081746

3 SubmittersRCV000729072 RCV002388360 RCV003502549

NM_000784.4(CYP27A1):c.132C>T (p.Pro44=)

SNV
Germline

Chr2:218782314

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease

Criteria Provided
Conflicting Classifications

CA65813746

rs_933195273

2 SubmittersRCV000730135 RCV001506114

NM_000784.4(CYP27A1):c.1029G>T (p.Thr343=)

SNV
Germline

Chr2:218814032

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA65834507

rs_771343931

3 SubmittersRCV000730843 RCV002535173 RCV002386300

NM_000784.4(CYP27A1):c.1371C>T (p.Thr457=)

SNV
Germline

Chr2:218814652

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
CYP27A1-related disorder

Criteria Provided
Conflicting Classifications

CA431414481

rs_1177463640

3 SubmittersRCV000730907 RCV002067109 RCV004748936

NM_000784.4(CYP27A1):c.712G>A (p.Val238Met)

SNV
Germline

Chr2:218812617

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2112702

rs_199691576

5 SubmittersRCV000732140 RCV001080340 RCV004027028

NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter)

SNV
Germline

Chr2:218814662

Pathogenic

Condition: not provided
Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA2112885

rs_771819245

4 SubmittersRCV000733808 RCV001229793

NM_000784.4(CYP27A1):c.1471G>A (p.Ala491Thr)

SNV
Germline

Chr2:218814752

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
CYP27A1-related disorder

Criteria Provided
Conflicting Classifications

CA2112902

rs_72551323

4 SubmittersRCV000734041 RCV001462205 RCV004748954

NM_000784.4(CYP27A1):c.1569C>T (p.Gly523=)

SNV
Germline

Chr2:218815003

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Cholestanol storage disease
CYP27A1-related disorder

Criteria Provided
Conflicting Classifications

CA2112944

rs_748616891

4 SubmittersRCV000734413 RCV002397517 RCV001490273 RCV003892673

NM_000784.4(CYP27A1):c.256-2A>G

SNV
Germline

Chr2:218809575

Pathogenic

Condition: not provided
Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA350582845

rs_1559391390

2 SubmittersRCV000734448 RCV001855812

NM_000784.4(CYP27A1):c.1101T>G (p.Gly367=)

SNV
Germline

Chr2:218814104

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease

Criteria Provided
Conflicting Classifications

CA2112800

rs_752360378

2 SubmittersRCV000734511 RCV002535380

NM_000784.4(CYP27A1):c.699C>A (p.Ile233=)

SNV
Germline

Chr2:218812604

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA431414277

rs_1178297854

3 SubmittersRCV000735053 RCV002535415 RCV005318511

NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter)

SNV
Germline

Chr2:218809719

Pathogenic/Likely pathogenic

Cholestanol storage disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA350583553

rs_1559391480

3 SubmittersRCV000778595 RCV002352292

NM_000784.4(CYP27A1):c.1102G>T (p.Val368Leu)

SNV
Germline

Chr2:218814105

Conflicting classifications of pathogenicity

Cholestanol storage disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2112801

rs_145722193

4 SubmittersRCV000967698 RCV001698676

NM_000784.4(CYP27A1):c.504A>T (p.Pro168=)

SNV
Germline

Chr2:218812279

Conflicting classifications of pathogenicity

Cholestanol storage disease
Condition: not provided
CYP27A1-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2112627

rs_142623022

6 SubmittersRCV000926550 RCV001576275 RCV003895636 RCV002336923

NM_000784.4(CYP27A1):c.702C>T (p.Pro234=)

SNV
Germline

Chr2:218812607

Conflicting classifications of pathogenicity

Condition: not provided
Cholestanol storage disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2112697

rs_371636461

5 SubmittersRCV000939958 RCV001087934 RCV002363435

NM_000784.4(CYP27A1):c.666C>T (p.Phe222=)

SNV
Germline

Chr2:218812571

Conflicting classifications of pathogenicity

Cholestanol storage disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2112688

rs_751692931

3 SubmittersRCV000978703 RCV002363498

NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter)

SNV
Germline

Chr2:218812337

Pathogenic

Cholestanol storage disease
CYP27A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2112653

rs_188850202

7 SubmittersRCV000987032 RCV003928633

NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg)

SNV
Germline

Chr2:218814055

Conflicting classifications of pathogenicity

Cholestanol storage disease

Criteria Provided
Conflicting Classifications

CA350591509

rs_1470602732

2 SubmittersRCV000987033

NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro)

SNV
Germline

Chr2:218814184

Conflicting classifications of pathogenicity

Cholestanol storage disease
not specified

Criteria Provided
Conflicting Classifications

CA350592767

rs_1406298698

3 SubmittersRCV000987034 RCV004587001

NM_000784.4(CYP27A1):c.33G>A (p.Trp11Ter)

SNV
Germline

Chr2:218782215

Pathogenic/Likely pathogenic

Condition: not provided
Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA350575424

rs_1319938730

3 SubmittersRCV000997667 RCV003769365

NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met)

SNV
Germline

Chr2:218814948

Conflicting classifications of pathogenicity

Cholestanol storage disease
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2112935

rs_76822427

8 SubmittersRCV001064382 RCV001701282 RCV004030534

NM_000784.4(CYP27A1):c.309G>A (p.Gln103=)

SNV
Germline

Chr2:218809630

Conflicting classifications of pathogenicity

Cholestanol storage disease

Criteria Provided
Conflicting Classifications

CA431233634

rs_1306558952

2 SubmittersRCV001138064

NM_000784.4(CYP27A1):c.322C>T (p.Leu108=)

SNV
Germline

Chr2:218809643

Conflicting classifications of pathogenicity

Cholestanol storage disease
CYP27A1-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2112566

rs_192344487

4 SubmittersRCV001138487 RCV003918723 RCV004609635

NM_000784.4(CYP27A1):c.507G>A (p.Ala169=)

SNV
Germline

Chr2:218812282

Conflicting classifications of pathogenicity

Cholestanol storage disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2112630

rs_776260288

3 SubmittersRCV001141051 RCV002339413

NM_000784.4(CYP27A1):c.525G>A (p.Thr175=)

SNV
Germline

Chr2:218812300

Conflicting classifications of pathogenicity

Cholestanol storage disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA65832618

rs_200506778

3 SubmittersRCV001141052 RCV002339414

NM_000784.4(CYP27A1):c.1459C>T (p.Gln487Ter)

SNV
Germline

Chr2:218814740

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350595516

rs_1943770060

1 SubmittersRCV001202900

NM_000784.4(CYP27A1):c.1017+1G>A

SNV
Germline

Chr2:218813097

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350589193

rs_1943742261

1 SubmittersRCV001233210

NM_000784.4(CYP27A1):c.1185-2A>G

SNV
Germline

Chr2:218814378

Pathogenic/Likely pathogenic

Cholestanol storage disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA350592922

rs_1553616457

2 SubmittersRCV001234345 RCV005540333

NM_000784.4(CYP27A1):c.264C>A (p.Tyr88Ter)

SNV
Unknown

Chr2:218809585

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350582894

rs_1943689487

1 SubmittersRCV001264088

NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter)

SNV
Germline

Chr2:218809608

Pathogenic/Likely pathogenic

Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA350583023

rs_1943689766

2 SubmittersRCV001264207

NM_000784.4(CYP27A1):c.307C>T (p.Gln103Ter)

SNV
Unknown

Chr2:218809628

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350583136

rs_1943689944

1 SubmittersRCV001264208

NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter)

SNV
Germline

Chr2:218809679

Pathogenic/Likely pathogenic

Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA350583382

rs_1943690848

2 SubmittersRCV001264209

NM_000784.4(CYP27A1):c.608C>A (p.Ser203Ter)

SNV
Unknown

Chr2:218812383

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350585467

rs_186812403

1 SubmittersRCV001264210

NM_000784.4(CYP27A1):c.657C>A (p.Tyr219Ter)

SNV
Unknown

Chr2:218812562

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350585888

rs_1414259537

1 SubmittersRCV001264211

NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter)

SNV
Germline

Chr2:218812708

Pathogenic/Likely pathogenic

Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA350587337

rs_1943736070

2 SubmittersRCV001264212

NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter)

SNV
Germline

Chr2:218813034

Pathogenic/Likely pathogenic

Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA350588722

rs_1943741125

2 SubmittersRCV001264213

NM_000784.4(CYP27A1):c.813C>G (p.Tyr271Ter)

SNV
Germline

Chr2:218812718

Pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350587479

rs_532134925

1 SubmittersRCV001383667

NM_000784.4(CYP27A1):c.506C>A (p.Ala169Glu)

SNV
Germline

Chr2:218812281

Conflicting classifications of pathogenicity

Cholestanol storage disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2112629

rs_59443548

2 SubmittersRCV001428807 RCV004793487

NM_000784.4(CYP27A1):c.1456A>T (p.Met486Leu)

SNV
Germline

Chr2:218814737

Conflicting classifications of pathogenicity

Cholestanol storage disease
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2112898

rs_150585977

3 SubmittersRCV001434529 RCV002395995 RCV003151857

NM_000784.4(CYP27A1):c.593C>T (p.Ser198Leu)

SNV
Germline

Chr2:218812368

Conflicting classifications of pathogenicity

Cholestanol storage disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2112660

rs_563736306

2 SubmittersRCV001494848 RCV002359106

NM_000784.4(CYP27A1):c.1476+2T>C

SNV
Germline

Chr2:218814759

Pathogenic/Likely pathogenic

Condition: not provided
Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA350595700

rs_1165952837

4 SubmittersRCV001531954 RCV003470853

NM_000784.4(CYP27A1):c.1333C>T (p.Gln445Ter)

SNV
Germline

Chr2:218814614

Pathogenic

Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA350594234

rs_1325218192

4 SubmittersRCV001902771

NM_000784.4(CYP27A1):c.1018-1G>C

SNV
Germline

Chr2:218814020

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA350591129

rs_1575206658

2 SubmittersRCV002032326

NM_000784.4(CYP27A1):c.1087G>T (p.Glu363Ter)

SNV
Germline

Chr2:218814090

Pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA65834619

rs_72551321

1 SubmittersRCV001888764

NM_000784.4(CYP27A1):c.447-1G>A

SNV
Germline

Chr2:218812221

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA350584756

rs_2105979879

2 SubmittersRCV001998853

NM_000784.4(CYP27A1):c.1191C>A (p.Tyr397Ter)

SNV
Germline

Chr2:218814386

Pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350592980

rs_2105981050

1 SubmittersRCV001908625

NM_000784.4(CYP27A1):c.253C>T (p.Gln85Ter)

SNV
Germline

Chr2:218782435

Pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350577096

rs_1333458369

1 SubmittersRCV001900808

NM_000784.4(CYP27A1):c.1436G>T (p.Arg479Leu)

SNV
Germline

Chr2:218814717

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA2112897

rs_199638075

1 SubmittersRCV001976677

NM_000784.4(CYP27A1):c.804G>T (p.Trp268Cys)

SNV
Germline

Chr2:218812709

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350587346

rs_1943736101

1 SubmittersRCV002025260

NM_000784.4(CYP27A1):c.1184+1G>C

SNV
Germline

Chr2:218814188

Pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350592814

rs_587778777

1 SubmittersRCV001946909

NM_000784.4(CYP27A1):c.643G>T (p.Glu215Ter)

SNV
Germline

Chr2:218812418

Pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA2112669

rs_761663976

1 SubmittersRCV001949995

NM_000784.4(CYP27A1):c.1435C>A (p.Arg479Ser)

SNV
Germline

Chr2:218814716

Pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA2112894

rs_72551322

1 SubmittersRCV001951410

NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter)

SNV
Germline

Chr2:218782214

Pathogenic/Likely pathogenic

Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA350575413

rs_1398584213

2 SubmittersRCV001907858

NM_000784.4(CYP27A1):c.1373C>T (p.Pro458Leu)

SNV
Germline

Chr2:218814654

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cholestanol storage disease

Criteria Provided
Conflicting Classifications

CA2112881

rs_781360671

2 SubmittersRCV004611985 RCV001940132

NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser)

SNV
Germline

Chr2:218814028

Conflicting classifications of pathogenicity

Cholestanol storage disease
CYP27A1-related disorder
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2112785

rs_778458082

5 SubmittersRCV002186992 RCV003403673 RCV002266097 RCV002382282

NM_000784.4(CYP27A1):c.547G>A (p.Asp183Asn)

SNV
Germline

Chr2:218812322

Conflicting classifications of pathogenicity

Cholestanol storage disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2112646

rs_751280804

2 SubmittersRCV002208075 RCV004793739

NM_000784.4(CYP27A1):c.563G>A (p.Arg188Gln)

SNV
Germline

Chr2:218812338

Conflicting classifications of pathogenicity

Cholestanol storage disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2112654

rs_754310499

2 SubmittersRCV002152294 RCV002346454

NM_000784.4(CYP27A1):c.1126C>T (p.Gln376Ter)

SNV
Unknown

Chr2:218814129

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350592189

rs_1943756375

1 SubmittersRCV002306539

NM_000784.4(CYP27A1):c.494T>A (p.Leu165Ter)

SNV
Unknown

Chr2:218812269

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350584904

rs_2470226435

1 SubmittersRCV002309191

NM_000784.4(CYP27A1):c.703G>T (p.Glu235Ter)

SNV
Unknown

Chr2:218812608

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350586339

rs_149897566

1 SubmittersRCV002310214

NM_000784.4(CYP27A1):c.724A>T (p.Arg242Ter)

SNV
Unknown

Chr2:218812629

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350586531

rs_2470226967

1 SubmittersRCV002308422

NM_000784.4(CYP27A1):c.55G>A (p.Gly19Ser)

SNV
Germline

Chr2:218782237

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cholestanol storage disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2112504

rs_758959471

3 SubmittersRCV002344890 RCV003096806 RCV004793781

NM_000784.4(CYP27A1):c.379C>G (p.Arg127Gly)

SNV
Germline

Chr2:218809700

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA2112579

rs_201114717

3 SubmittersRCV002465059

NM_000784.4(CYP27A1):c.1130A>G (p.His377Arg)

SNV
Germline

Chr2:218814133

Conflicting classifications of pathogenicity

Cholestanol storage disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2112810

rs_41272685

2 SubmittersRCV003068444 RCV005323314

NM_000784.4(CYP27A1):c.255G>A (p.Gln85=)

SNV
Germline

Chr2:218782437

Conflicting classifications of pathogenicity

Cholestanol storage disease

Criteria Provided
Conflicting Classifications

CA2112540

rs_374941032

2 SubmittersRCV003081227

NM_000784.4(CYP27A1):c.1412A>T (p.Tyr471Phe)

SNV
Germline

Chr2:218814693

Conflicting classifications of pathogenicity

Cholestanol storage disease
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA350595051

rs_776275363

2 SubmittersRCV003090886 RCV004614344

NM_000784.4(CYP27A1):c.646+1G>A

SNV
Germline

Chr2:218812422

Pathogenic/Likely pathogenic

Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA350585712

rs_79535262

3 SubmittersRCV003069580

NM_000784.4(CYP27A1):c.1436G>C (p.Arg479Pro)

SNV
Germline

Chr2:218814717

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA2112896

rs_199638075

1 SubmittersRCV003086015

NM_000784.4(CYP27A1):c.844+1G>T

SNV
Germline

Chr2:218812750

Pathogenic

Cholestanol storage disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350587820

rs_397515354

3 SubmittersRCV002651606 RCV004700977

NM_000784.4(CYP27A1):c.1476+2T>A

SNV
Germline

Chr2:218814759

Pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350595695

rs_1165952837

1 SubmittersRCV002612937

NM_000784.4(CYP27A1):c.1263+1G>T

SNV
Germline

Chr2:218814459

Pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350593583

rs_397515355

1 SubmittersRCV002601855

NM_000784.4(CYP27A1):c.825G>A (p.Trp275Ter)

SNV
Germline

Chr2:218812730

Pathogenic/Likely pathogenic

Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA350587610

rs_1425208118

2 SubmittersRCV002640045

NM_000784.4(CYP27A1):c.238C>T (p.Gln80Ter)

SNV
Germline

Chr2:218782420

Pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350576986

rs_1943401478

1 SubmittersRCV002627673

NM_000784.4(CYP27A1):c.667G>T (p.Glu223Ter)

SNV
Germline

Chr2:218812572

Pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350586007

rs_760323157

1 SubmittersRCV002706559

NM_000784.4(CYP27A1):c.410G>C (p.Arg137Pro)

SNV
Germline

Chr2:218809731

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350583952

rs_587778818

1 SubmittersRCV002834003

NM_000784.4(CYP27A1):c.1421G>C (p.Arg474Pro)

SNV
Germline

Chr2:218814702

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350595116

rs_121908097

1 SubmittersRCV002867753

NM_000784.4(CYP27A1):c.389T>A (p.Met130Lys)

SNV
Unknown

Chr2:218809710

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350583513

rs_1169227791

1 SubmittersRCV003475577

NM_000784.4(CYP27A1):c.845-1G>C

SNV
Germline

Chr2:218812923

Pathogenic/Likely pathogenic

Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA350587916

rs_397515353

2 SubmittersRCV003466089

NM_000784.4(CYP27A1):c.522T>A (p.Tyr174Ter)

SNV
Unknown

Chr2:218812297

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350585023

rs_1943725257

1 SubmittersRCV003466090

NM_000784.4(CYP27A1):c.1477-1G>A

SNV
Unknown

Chr2:218814910

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350595867

rs_1454908929

1 SubmittersRCV003459944

NM_000784.4(CYP27A1):c.1453G>T (p.Glu485Ter)

SNV
Unknown

Chr2:218814734

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350595437

rs_1301870550

1 SubmittersRCV003459945

NM_000784.4(CYP27A1):c.571C>T (p.Gln191Ter)

SNV
Unknown

Chr2:218812346

Pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350585255

rs_1323697541

1 SubmittersRCV003466097

NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter)

SNV
Germline

Chr2:218812236

Pathogenic/Likely pathogenic

Cholestanol storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA350584791

rs_2470226358

2 SubmittersRCV003466098

NM_000784.4(CYP27A1):c.647-1G>A

SNV
Germline

Chr2:218812551

Pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350585792

rs_587778804

1 SubmittersRCV003504526

NM_000784.4(CYP27A1):c.1037G>A (p.Trp346Ter)

SNV
Germline

Chr2:218814040

Pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350591348

rs_2470228964

1 SubmittersRCV003502153

NM_000784.4(CYP27A1):c.115A>T (p.Lys39Ter)

SNV
Germline

Chr2:218782297

Pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350576025

rs_2470201839

1 SubmittersRCV003504062

NM_000784.4(CYP27A1):c.465C>A (p.Tyr155Ter)

SNV
Germline

Chr2:218812240

Pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

CA350584803

rs_553140875

1 SubmittersRCV003611307

NM_000784.4(CYP27A1):c.160C>T (p.Gln54Ter)

SNV
Unknown

Chr2:218782342

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

rs_1314269374

1 SubmittersRCV004575758

NM_000784.4(CYP27A1):c.346C>T (p.Gln116Ter)

SNV
Unknown

Chr2:218809667

Pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

rs_2470223574

1 SubmittersRCV004575759

NM_000784.4(CYP27A1):c.646+1G>T

SNV
Unknown

Chr2:218812422

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

rs_79535262

1 SubmittersRCV004575761

NM_000784.4(CYP27A1):c.1004C>T (p.Ala335Val)

SNV
Germline

Chr2:218813083

Likely pathogenic

Cholestanol storage disease

Criteria Provided
Single Submitter

1 SubmittersRCV005018647

NM_000784.4(CYP27A1):c.24G>A (p.Arg8=)

SNV
Germline

Chr2:218782206

Conflicting classifications of pathogenicity

Cholestanol storage disease
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005157657 RCV005416790

NM_000784.4(CYP27A1):c.256-1G>C

SNV
Germline

Chr2:218809576

Pathogenic

Cholestanol storage disease

No Assertion Criteria Provided

1 SubmittersRCV005619034

NM_000784.4(CYP27A1):c.487C>T (p.Gln163Ter)

SNV
Germline

Chr2:218812262

Likely pathogenic

Cholestanol storage disease

No Assertion Criteria Provided

1 SubmittersRCV005619066