ClinVar for MedGen (Select 116041) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24291651.	NM_000784.4(CYP27A1):c.108del (p.Ser37fs) GRCh37: Chr2:219647010 GRCh38: Chr2:218782287	CYP27A1	S37fs	Cholestanol storage disease	Likely pathogenic (Jan 7, 2023)	criteria provided, single submitter
Select item 24280642.	NM_000784.4(CYP27A1):c.1409G>T (p.Gly470Val) GRCh37: Chr2:219679413 GRCh38: Chr2:218814690	CYP27A1	G470V	Cholestanol storage disease	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 24233913.	NC_000002.11:g.(?_219679083)_(219679753_?)del GRCh37: Chr2:219679083-219679753	CYP27A1		Cholestanol storage disease	Likely pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 24213354.	NM_000784.4(CYP27A1):c.383A>G (p.Asn128Ser) GRCh37: Chr2:219674427 GRCh38: Chr2:218809704	CYP27A1	N128S	Cholestanol storage disease	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 24211615.	NM_000784.4(CYP27A1):c.185G>C (p.Arg62Pro) GRCh37: Chr2:219647090 GRCh38: Chr2:218782367	CYP27A1	R62P	Cholestanol storage disease	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 24203766.	NM_000784.4(CYP27A1):c.256-17T>G GRCh37: Chr2:219674283 GRCh38: Chr2:218809560	CYP27A1		Cholestanol storage disease	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 24156557.	NM_000784.4(CYP27A1):c.1215G>T (p.Arg405=) GRCh37: Chr2:219679133 GRCh38: Chr2:218814410	CYP27A1		Cholestanol storage disease	Likely benign (Aug 25, 2020)	criteria provided, single submitter
Select item 24155088.	NM_000784.4(CYP27A1):c.1048C>T (p.His350Tyr) GRCh37: Chr2:219678774 GRCh38: Chr2:218814051	CYP27A1	H350Y	Cholestanol storage disease	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 22032639.	NM_000784.4(CYP27A1):c.844+1G>T GRCh37: Chr2:219677473 GRCh38: Chr2:218812750	CYP27A1		Cholestanol storage disease	Pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 220113210.	NM_000784.4(CYP27A1):c.223C>G (p.Gln75Glu) GRCh37: Chr2:219647128 GRCh38: Chr2:218782405	CYP27A1	Q75E	Cholestanol storage disease	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 219622511.	NM_000784.4(CYP27A1):c.1112C>T (p.Ala371Val) GRCh37: Chr2:219678838 GRCh38: Chr2:218814115	CYP27A1	A371V	Cholestanol storage disease	Uncertain significance (Oct 28, 2022)	criteria provided, single submitter
Select item 218897612.	NM_000784.4(CYP27A1):c.1301A>C (p.Asp434Ala) GRCh37: Chr2:219679305 GRCh38: Chr2:218814582	CYP27A1	D434A	Cholestanol storage disease	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 218835013.	NM_000784.4(CYP27A1):c.1145A>C (p.His382Pro) GRCh37: Chr2:219678871 GRCh38: Chr2:218814148	CYP27A1	H382P	Cholestanol storage disease	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 218109314.	NM_000784.4(CYP27A1):c.884C>A (p.Ala295Asp) GRCh37: Chr2:219677686 GRCh38: Chr2:218812963	CYP27A1	A295D	Cholestanol storage disease	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 217660715.	NM_000784.4(CYP27A1):c.1477-4C>T GRCh37: Chr2:219679630 GRCh38: Chr2:218814907	CYP27A1		Cholestanol storage disease	Likely benign (May 14, 2022)	criteria provided, single submitter
Select item 217618816.	NM_000784.4(CYP27A1):c.1470C>G (p.Leu490=) GRCh37: Chr2:219679474 GRCh38: Chr2:218814751	CYP27A1		Cholestanol storage disease	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 217368917.	NM_000784.4(CYP27A1):c.1343G>T (p.Arg448Leu) GRCh37: Chr2:219679347 GRCh38: Chr2:218814624	CYP27A1	R448L	Cholestanol storage disease	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 216835518.	NM_000784.4(CYP27A1):c.751T>C (p.Ser251Pro) GRCh37: Chr2:219677379 GRCh38: Chr2:218812656	CYP27A1	S251P	Cholestanol storage disease	Uncertain significance (Feb 13, 2022)	criteria provided, single submitter
Select item 216717419.	NM_000784.4(CYP27A1):c.851A>G (p.Lys284Arg) GRCh37: Chr2:219677653 GRCh38: Chr2:218812930	CYP27A1	K284R	Cholestanol storage disease	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 216586320.	NM_000784.4(CYP27A1):c.1440G>C (p.Arg480Ser) GRCh37: Chr2:219679444 GRCh38: Chr2:218814721	CYP27A1	R480S	Cholestanol storage disease	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 216569121.	NM_000784.4(CYP27A1):c.978G>A (p.Met326Ile) GRCh37: Chr2:219677780 GRCh38: Chr2:218813057	CYP27A1	M326I	Cholestanol storage disease	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 216535122.	NM_000784.4(CYP27A1):c.1300G>C (p.Asp434His) GRCh37: Chr2:219679304 GRCh38: Chr2:218814581	CYP27A1	D434H	Cholestanol storage disease, Inborn genetic diseases	Uncertain significance (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216300923.	NM_000784.4(CYP27A1):c.1379T>G (p.Ile460Ser) GRCh37: Chr2:219679383 GRCh38: Chr2:218814660	CYP27A1	I460S	Cholestanol storage disease	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 216228924.	NM_000784.4(CYP27A1):c.628T>C (p.Tyr210His) GRCh37: Chr2:219677126 GRCh38: Chr2:218812403	CYP27A1	Y210H	Cholestanol storage disease, Cardiovascular phenotype	Uncertain significance (Aug 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 216049725.	NM_000784.4(CYP27A1):c.550G>A (p.Asp184Asn) GRCh37: Chr2:219677048 GRCh38: Chr2:218812325	CYP27A1	D184N	Cholestanol storage disease	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 215969426.	NM_000784.4(CYP27A1):c.1436G>C (p.Arg479Pro) GRCh37: Chr2:219679440 GRCh38: Chr2:218814717	CYP27A1	R479P	Cholestanol storage disease	Likely pathogenic (Oct 21, 2022)	criteria provided, single submitter
Select item 215958827.	NM_000784.4(CYP27A1):c.674G>T (p.Arg225Leu) GRCh37: Chr2:219677302 GRCh38: Chr2:218812579	CYP27A1	R225L	Inborn genetic diseases, Cholestanol storage disease	Uncertain significance (Feb 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215895828.	NM_000784.4(CYP27A1):c.185G>A (p.Arg62His) GRCh37: Chr2:219647090 GRCh38: Chr2:218782367	CYP27A1	R62H	Cholestanol storage disease	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 215807729.	NM_000784.4(CYP27A1):c.646+1G>A GRCh37: Chr2:219677145 GRCh38: Chr2:218812422	CYP27A1		Cholestanol storage disease	Likely pathogenic (Feb 27, 2022)	criteria provided, single submitter
Select item 215633130.	NM_000784.4(CYP27A1):c.473G>T (p.Arg158Leu) GRCh37: Chr2:219676971 GRCh38: Chr2:218812248	CYP27A1	R158L	Cholestanol storage disease	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 215631331.	NM_000784.4(CYP27A1):c.1412A>T (p.Tyr471Phe) GRCh37: Chr2:219679416 GRCh38: Chr2:218814693	CYP27A1	Y471F	Cholestanol storage disease	Uncertain significance (Mar 24, 2022)	criteria provided, single submitter
Select item 215167632.	NM_000784.4(CYP27A1):c.580G>A (p.Ala194Thr) GRCh37: Chr2:219677078 GRCh38: Chr2:218812355	CYP27A1	A194T	Cholestanol storage disease	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 215132233.	NM_000784.4(CYP27A1):c.219C>T (p.Phe73=) GRCh37: Chr2:219647124 GRCh38: Chr2:218782401	CYP27A1		Cholestanol storage disease	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 215002834.	NM_000784.4(CYP27A1):c.385G>A (p.Asp129Asn) GRCh37: Chr2:219674429 GRCh38: Chr2:218809706	CYP27A1	D129N	Cholestanol storage disease	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 214986335.	NM_000784.4(CYP27A1):c.350T>C (p.Val117Ala) GRCh37: Chr2:219674394 GRCh38: Chr2:218809671	CYP27A1	V117A	Cholestanol storage disease	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 214874736.	NM_000784.4(CYP27A1):c.255G>A (p.Gln85=) GRCh37: Chr2:219647160 GRCh38: Chr2:218782437	CYP27A1		Cholestanol storage disease	Uncertain significance (Mar 9, 2021)	criteria provided, single submitter
Select item 214851137.	NM_000784.4(CYP27A1):c.429C>G (p.Thr143=) GRCh37: Chr2:219674473 GRCh38: Chr2:218809750	CYP27A1		Cholestanol storage disease	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 214590238.	NM_000784.4(CYP27A1):c.356G>A (p.Arg119Gln) GRCh37: Chr2:219674400 GRCh38: Chr2:218809677	CYP27A1	R119Q	Cholestanol storage disease	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 214453339.	NM_000784.4(CYP27A1):c.1130A>G (p.His377Arg) GRCh37: Chr2:219678856 GRCh38: Chr2:218814133	CYP27A1	H377R	Cholestanol storage disease	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 214209840.	NM_000784.4(CYP27A1):c.447-15T>C GRCh37: Chr2:219676930 GRCh38: Chr2:218812207	CYP27A1		Cholestanol storage disease	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 213967841.	NM_000784.4(CYP27A1):c.455A>T (p.His152Leu) GRCh37: Chr2:219676953 GRCh38: Chr2:218812230	CYP27A1	H152L	Cholestanol storage disease	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 213932142.	NM_000784.4(CYP27A1):c.447-9T>A GRCh37: Chr2:219676936 GRCh38: Chr2:218812213	CYP27A1		Cholestanol storage disease	Likely benign (Nov 3, 2022)	criteria provided, single submitter
Select item 213869243.	NM_000784.4(CYP27A1):c.794T>C (p.Leu265Pro) GRCh37: Chr2:219677422 GRCh38: Chr2:218812699	CYP27A1	L265P	Cholestanol storage disease	Uncertain significance (Oct 5, 2021)	criteria provided, single submitter
Select item 213530244.	NM_000784.4(CYP27A1):c.338T>C (p.Leu113Pro) GRCh37: Chr2:219674382 GRCh38: Chr2:218809659	CYP27A1	L113P	Cholestanol storage disease	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 213499145.	NM_000784.4(CYP27A1):c.255+7C>G GRCh37: Chr2:219647167 GRCh38: Chr2:218782444	CYP27A1		Cholestanol storage disease	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 213267146.	NM_000784.4(CYP27A1):c.647-16T>G GRCh37: Chr2:219677259 GRCh38: Chr2:218812536	CYP27A1		Cholestanol storage disease	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 213011247.	NM_000784.4(CYP27A1):c.563G>T (p.Arg188Leu) GRCh37: Chr2:219677061 GRCh38: Chr2:218812338	CYP27A1	R188L	Cholestanol storage disease	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 212843648.	NM_000784.4(CYP27A1):c.1473A>C (p.Ala491=) GRCh37: Chr2:219679477 GRCh38: Chr2:218814754	CYP27A1		Cholestanol storage disease	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 212610349.	NM_000784.4(CYP27A1):c.995T>G (p.Leu332Arg) GRCh37: Chr2:219677797 GRCh38: Chr2:218813074	CYP27A1	L332R	Cholestanol storage disease	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 212543250.	NM_000784.4(CYP27A1):c.1563del (p.Val522fs) GRCh37: Chr2:219679718 GRCh38: Chr2:218814995	CYP27A1	V522fs	Cholestanol storage disease	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 212543151.	NM_000784.4(CYP27A1):c.1444G>T (p.Ala482Ser) GRCh37: Chr2:219679448 GRCh38: Chr2:218814725	CYP27A1	A482S	Cholestanol storage disease	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 212397052.	NM_000784.4(CYP27A1):c.1545C>T (p.Val515=) GRCh37: Chr2:219679702 GRCh38: Chr2:218814979	CYP27A1		Cholestanol storage disease	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 212189353.	NM_000784.4(CYP27A1):c.1174G>C (p.Glu392Gln) GRCh37: Chr2:219678900 GRCh38: Chr2:218814177	CYP27A1	E392Q	Cholestanol storage disease	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 212042054.	NM_000784.4(CYP27A1):c.1477-8C>G GRCh37: Chr2:219679626 GRCh38: Chr2:218814903	CYP27A1		Cholestanol storage disease	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 212028155.	NM_000784.4(CYP27A1):c.1017+10G>T GRCh37: Chr2:219677829 GRCh38: Chr2:218813106	CYP27A1		Cholestanol storage disease	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 212020156.	NM_000784.4(CYP27A1):c.52C>T (p.Arg18Cys) GRCh37: Chr2:219646957 GRCh38: Chr2:218782234	CYP27A1	R18C	Cholestanol storage disease	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 211958457.	NM_000784.4(CYP27A1):c.1550T>C (p.Val517Ala) GRCh37: Chr2:219679707 GRCh38: Chr2:218814984	CYP27A1	V517A	Cholestanol storage disease	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 211667258.	NM_000784.4(CYP27A1):c.869T>C (p.Leu290Pro) GRCh37: Chr2:219677671 GRCh38: Chr2:218812948	CYP27A1	L290P	Cholestanol storage disease	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 211484459.	NM_000784.4(CYP27A1):c.1210T>C (p.Ser404Pro) GRCh37: Chr2:219679128 GRCh38: Chr2:218814405	CYP27A1	S404P	Cholestanol storage disease	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 211159360.	NM_000784.4(CYP27A1):c.1269G>A (p.Gln423=) GRCh37: Chr2:219679273 GRCh38: Chr2:218814550	CYP27A1		Cholestanol storage disease	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 211010461.	NM_000784.4(CYP27A1):c.1312T>G (p.Phe438Val) GRCh37: Chr2:219679316 GRCh38: Chr2:218814593	CYP27A1	F438V	Cholestanol storage disease	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 211004162.	NM_000784.4(CYP27A1):c.223C>A (p.Gln75Lys) GRCh37: Chr2:219647128 GRCh38: Chr2:218782405	CYP27A1	Q75K	Cholestanol storage disease	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210842363.	NM_000784.4(CYP27A1):c.1215G>A (p.Arg405=) GRCh37: Chr2:219679133 GRCh38: Chr2:218814410	CYP27A1		Cholestanol storage disease	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 210677264.	NM_000784.4(CYP27A1):c.594G>C (p.Ser198=) GRCh37: Chr2:219677092 GRCh38: Chr2:218812369	CYP27A1		Cholestanol storage disease	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 210488465.	NM_000784.4(CYP27A1):c.749A>G (p.Asn250Ser) GRCh37: Chr2:219677377 GRCh38: Chr2:218812654	CYP27A1	N250S	Cholestanol storage disease	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 210383666.	NM_000784.4(CYP27A1):c.175G>A (p.Glu59Lys) GRCh37: Chr2:219647080 GRCh38: Chr2:218782357	CYP27A1	E59K	Cholestanol storage disease	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 210373867.	NM_000784.4(CYP27A1):c.1018-16C>T GRCh37: Chr2:219678728 GRCh38: Chr2:218814005	CYP27A1		Cholestanol storage disease	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 210222568.	NM_000784.4(CYP27A1):c.200G>A (p.Arg67His) GRCh37: Chr2:219647105 GRCh38: Chr2:218782382	CYP27A1	R67H	Cholestanol storage disease	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 209610669.	NM_000784.4(CYP27A1):c.590C>G (p.Ala197Gly) GRCh37: Chr2:219677088 GRCh38: Chr2:218812365	CYP27A1	A197G	Cholestanol storage disease	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 209320470.	NM_000784.4(CYP27A1):c.147T>C (p.Gly49=) GRCh37: Chr2:219647052 GRCh38: Chr2:218782329	CYP27A1		Cholestanol storage disease	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 209291771.	NM_000784.4(CYP27A1):c.1320G>A (p.Glu440=) GRCh37: Chr2:219679324 GRCh38: Chr2:218814601	CYP27A1		Cholestanol storage disease	Likely benign (May 26, 2022)	criteria provided, single submitter
Select item 209081972.	NM_000784.4(CYP27A1):c.1281C>T (p.Cys427=) GRCh37: Chr2:219679285 GRCh38: Chr2:218814562	CYP27A1		Cholestanol storage disease	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 209007773.	NM_000784.4(CYP27A1):c.1464A>G (p.Leu488=) GRCh37: Chr2:219679468 GRCh38: Chr2:218814745	CYP27A1		Cholestanol storage disease	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 208842374.	NM_000784.4(CYP27A1):c.1568_*118del (p.Gly523_Ter532delinsXaa) GRCh37: Chr2:219679723-219679869 GRCh38: Chr2:218815000-218815146	CYP27A1		Cholestanol storage disease	Uncertain significance (Jan 20, 2022)	criteria provided, single submitter
Select item 208765175.	NM_000784.4(CYP27A1):c.230A>G (p.Tyr77Cys) GRCh37: Chr2:219647135 GRCh38: Chr2:218782412	CYP27A1	Y77C	Cholestanol storage disease	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 208570776.	NM_000784.4(CYP27A1):c.984C>T (p.Ser328=) GRCh37: Chr2:219677786 GRCh38: Chr2:218813063	CYP27A1		Cholestanol storage disease	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 208132377.	NM_000784.4(CYP27A1):c.577C>A (p.Arg193=) GRCh37: Chr2:219677075 GRCh38: Chr2:218812352	CYP27A1		Cholestanol storage disease	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 207370178.	NM_000784.4(CYP27A1):c.435G>A (p.Gly145=) GRCh37: Chr2:219674479 GRCh38: Chr2:218809756	CYP27A1		Cholestanol storage disease	Likely benign (Oct 21, 2021)	criteria provided, single submitter
Select item 207159279.	NM_000784.4(CYP27A1):c.219C>A (p.Phe73Leu) GRCh37: Chr2:219647124 GRCh38: Chr2:218782401	CYP27A1	F73L	Cholestanol storage disease	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 207082380.	NM_000784.4(CYP27A1):c.1476+15G>C GRCh37: Chr2:219679495 GRCh38: Chr2:218814772	CYP27A1		Cholestanol storage disease	Likely benign (Jan 2, 2022)	criteria provided, single submitter
Select item 206880381.	NM_000784.4(CYP27A1):c.692G>A (p.Arg231Gln) GRCh37: Chr2:219677320 GRCh38: Chr2:218812597	CYP27A1	R231Q	Cholestanol storage disease	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 206275082.	NM_000784.4(CYP27A1):c.412G>C (p.Asp138His) GRCh37: Chr2:219674456 GRCh38: Chr2:218809733	CYP27A1	D138H	Cholestanol storage disease	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 205970983.	NM_000784.4(CYP27A1):c.777G>A (p.Lys259=) GRCh37: Chr2:219677405 GRCh38: Chr2:218812682	CYP27A1		Cholestanol storage disease	Likely benign (Dec 28, 2021)	criteria provided, single submitter
Select item 205963684.	NM_000784.4(CYP27A1):c.517C>T (p.Leu173Phe) GRCh37: Chr2:219677015 GRCh38: Chr2:218812292	CYP27A1	L173F	Cholestanol storage disease	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 205791085.	NM_000784.4(CYP27A1):c.1196T>G (p.Val399Gly) GRCh37: Chr2:219679114 GRCh38: Chr2:218814391	CYP27A1	V399G	Cholestanol storage disease	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 205608386.	NM_000784.4(CYP27A1):c.646+19G>A GRCh37: Chr2:219677163 GRCh38: Chr2:218812440	CYP27A1		Cholestanol storage disease	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 205607587.	NM_000784.4(CYP27A1):c.1263+14G>C GRCh37: Chr2:219679195 GRCh38: Chr2:218814472	CYP27A1		Cholestanol storage disease	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 205566188.	NM_000784.4(CYP27A1):c.189A>C (p.Leu63=) GRCh37: Chr2:219647094 GRCh38: Chr2:218782371	CYP27A1		Cholestanol storage disease	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 205411989.	NM_000784.4(CYP27A1):c.152G>A (p.Arg51Gln) GRCh37: Chr2:219647057 GRCh38: Chr2:218782334	CYP27A1	R51Q	Cholestanol storage disease	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 204922190.	NM_000784.4(CYP27A1):c.1017+18G>T GRCh37: Chr2:219677837 GRCh38: Chr2:218813114	CYP27A1		Cholestanol storage disease	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 204602091.	NM_000784.4(CYP27A1):c.105C>T (p.Leu35=) GRCh37: Chr2:219647010 GRCh38: Chr2:218782287	CYP27A1		Cholestanol storage disease	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 204190992.	NM_000784.4(CYP27A1):c.1076A>C (p.Glu359Ala) GRCh37: Chr2:219678802 GRCh38: Chr2:218814079	CYP27A1	E359A	Cholestanol storage disease	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 203579893.	NM_000784.4(CYP27A1):c.1099_1102dup (p.Val368fs) GRCh37: Chr2:219678820-219678821 GRCh38: Chr2:218814097-218814098	CYP27A1	V368fs	Cholestanol storage disease	Pathogenic (Oct 16, 2022)	criteria provided, single submitter
Select item 203426194.	NM_000784.4(CYP27A1):c.1421G>C (p.Arg474Pro) GRCh37: Chr2:219679425 GRCh38: Chr2:218814702	CYP27A1	R474P	Cholestanol storage disease	Likely pathogenic (Oct 5, 2022)	criteria provided, single submitter
Select item 203135095.	NM_000784.4(CYP27A1):c.1185-18A>G GRCh37: Chr2:219679085 GRCh38: Chr2:218814362	CYP27A1		Cholestanol storage disease	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 203005296.	NM_000784.4(CYP27A1):c.717C>G (p.Thr239=) GRCh37: Chr2:219677345 GRCh38: Chr2:218812622	CYP27A1		Cholestanol storage disease	Likely benign (Sep 11, 2022)	criteria provided, single submitter
Select item 202524097.	NC_000002.12:g.218812223dup GRCh37: Chr2:219676943-219676944 GRCh38: Chr2:218812220-218812221	CYP27A1		Cholestanol storage disease	Pathogenic (Oct 10, 2022)	criteria provided, single submitter
Select item 202393098.	NM_000784.4(CYP27A1):c.555del (p.Phe185fs) GRCh37: Chr2:219677051 GRCh38: Chr2:218812328	CYP27A1	F185fs	Cholestanol storage disease	Pathogenic (Aug 13, 2022)	criteria provided, single submitter
Select item 202327499.	NM_000784.4(CYP27A1):c.1218C>T (p.Ile406=) GRCh37: Chr2:219679136 GRCh38: Chr2:218814413	CYP27A1		Cholestanol storage disease	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 2021340100.	NM_000784.4(CYP27A1):c.574C>T (p.Leu192=) GRCh37: Chr2:219677072 GRCh38: Chr2:218812349	CYP27A1		Cholestanol storage disease	Likely benign (Aug 3, 2022)	criteria provided, single submitter

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