ClinVar for MedGen (Select 482216) - ClinVar

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Items: 88

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 10306911.	NM_001378373.1(MBL2):c.449A>C (p.Lys150Thr) GRCh37: Chr10:54528195 GRCh38: Chr10:52768435	MBL2	K150T	Mannose-binding lectin deficiency	Uncertain significance (Dec 7, 2019)	criteria provided, single submitter
Select item 8800142.	NM_001378373.1(MBL2):c.656A>T (p.Asp219Val) GRCh37: Chr10:54527988 GRCh38: Chr10:52768228	MBL2	D219V	Inborn genetic diseases, Mannose-binding lectin deficiency	Uncertain significance (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8800133.	NM_001378373.1(MBL2):c.733G>A (p.Glu245Lys) GRCh37: Chr10:54527911 GRCh38: Chr10:52768151	MBL2	E245K	Mannose-binding lectin deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8800124.	NM_001378373.1(MBL2):c.*3G>T GRCh37: Chr10:54527894 GRCh38: Chr10:52768134	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8800115.	NM_001378373.1(MBL2):c.*7A>G GRCh37: Chr10:54527890 GRCh38: Chr10:52768130	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 8799536.	NM_001378373.1(MBL2):c.*1743T>C GRCh37: Chr10:54526154 GRCh38: Chr10:52766394	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8799527.	NM_001378373.1(MBL2):c.*1839A>G GRCh37: Chr10:54526058 GRCh38: Chr10:52766298	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8796478.	NM_001378373.1(MBL2):c.*366G>A GRCh37: Chr10:54527531 GRCh38: Chr10:52767771	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8796469.	NM_001378373.1(MBL2):c.*708G>A GRCh37: Chr10:54527189 GRCh38: Chr10:52767429	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87964510.	NM_001378373.1(MBL2):c.*783C>T GRCh37: Chr10:54527114 GRCh38: Chr10:52767354	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 87959911.	NM_001378373.1(MBL2):c.*2032C>T GRCh37: Chr10:54525865 GRCh38: Chr10:52766105	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 87885712.	NM_001378373.1(MBL2):c.26T>C (p.Leu9Pro) GRCh37: Chr10:54531370 GRCh38: Chr10:52771610	MBL2	L9P	Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87885613.	NM_001378373.1(MBL2):c.99T>G (p.Pro33=) GRCh37: Chr10:54531297 GRCh38: Chr10:52771537	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 87885514.	NM_001378373.1(MBL2):c.109G>T (p.Ala37Ser) GRCh37: Chr10:54531287 GRCh38: Chr10:52771527	MBL2	A37S	Mannose-binding lectin deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87825615.	NM_001378373.1(MBL2):c.133G>A (p.Gly45Ser) GRCh37: Chr10:54531263 GRCh38: Chr10:52771503	MBL2	G45S	Mannose-binding lectin deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87825516.	NM_001378373.1(MBL2):c.187+9T>C GRCh37: Chr10:54531200 GRCh38: Chr10:52771440	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87825417.	NM_001378373.1(MBL2):c.249G>T (p.Gly83=) GRCh37: Chr10:54530485 GRCh38: Chr10:52770725	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87825318.	NM_001378373.1(MBL2):c.303G>A (p.Pro101=) GRCh37: Chr10:54530431 GRCh38: Chr10:52770671	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 87819519.	NM_001378373.1(MBL2):c.*966A>G GRCh37: Chr10:54526931 GRCh38: Chr10:52767171	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87819420.	NM_001378373.1(MBL2):c.*1213C>T GRCh37: Chr10:54526684 GRCh38: Chr10:52766924	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87813221.	NM_001378373.1(MBL2):c.*2129T>C GRCh37: Chr10:54525768 GRCh38: Chr10:52766008	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87813122.	NM_001378373.1(MBL2):c.*2207G>A GRCh37: Chr10:54525690 GRCh38: Chr10:52765930	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87813023.	NM_001378373.1(MBL2):c.*2209T>C GRCh37: Chr10:54525688 GRCh38: Chr10:52765928	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87812924.	NM_001378373.1(MBL2):c.*2457G>C GRCh37: Chr10:54525440 GRCh38: Chr10:52765680	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87721525.	NM_001378373.1(MBL2):c.408C>T (p.Asn136=) GRCh37: Chr10:54528236 GRCh38: Chr10:52768476	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87721426.	NM_001378373.1(MBL2):c.490A>C (p.Thr164Pro) GRCh37: Chr10:54528154 GRCh38: Chr10:52768394	MBL2	T164P	Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87721327.	NM_001378373.1(MBL2):c.549C>T (p.Phe183=) GRCh37: Chr10:54528095 GRCh38: Chr10:52768335	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87721228.	NM_001378373.1(MBL2):c.580C>A (p.Gln194Lys) GRCh37: Chr10:54528064 GRCh38: Chr10:52768304	MBL2	Q194K	Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87716029.	NM_001378373.1(MBL2):c.*1252A>C GRCh37: Chr10:54526645 GRCh38: Chr10:52766885	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87715930.	NM_001378373.1(MBL2):c.*1448C>T GRCh37: Chr10:54526449 GRCh38: Chr10:52766689	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87709731.	NM_001378373.1(MBL2):c.*2648C>A GRCh37: Chr10:54525249 GRCh38: Chr10:52765489	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87709632.	NM_001378373.1(MBL2):c.*2751A>C GRCh37: Chr10:54525146 GRCh38: Chr10:52765386	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 73671933.	NM_001378373.1(MBL2):c.527A>G (p.Asn176Ser) GRCh37: Chr10:54528117 GRCh38: Chr10:52768357	MBL2	N176S	not provided, Mannose-binding lectin deficiency	Conflicting interpretations of pathogenicity (Mar 29, 2018)	criteria provided, conflicting interpretations
Select item 63163734.	NM_001378373.1(MBL2):c.628G>T (p.Glu210Ter) GRCh37: Chr10:54528016 GRCh38: Chr10:52768256	MBL2	E210*	Mannose-binding lectin deficiency, not provided	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 40307335.	NM_001378373.1(MBL2):c.132C>T (p.Asn44=) GRCh37: Chr10:54531264 GRCh38: Chr10:52771504	MBL2		not specified, not provided, Mannose-binding lectin deficiency	Conflicting interpretations of pathogenicity (Nov 27, 2018)	criteria provided, conflicting interpretations
Select item 36890036.	NM_000242.2(MBL2):c.-66C>T GRCh37: Chr10:54531461 GRCh38: Chr10:52771701	MBL2		Mannose-binding lectin deficiency	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 30015237.	NM_001378373.1(MBL2):c.-9-5C>G GRCh37: Chr10:54531409 GRCh38: Chr10:52771649	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30015138.	NM_001378373.1(MBL2):c.163A>G (p.Thr55Ala) GRCh37: Chr10:54531233 GRCh38: Chr10:52771473	MBL2	T55A	Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30015039.	NM_001378373.1(MBL2):c.166A>G (p.Lys56Glu) GRCh37: Chr10:54531230 GRCh38: Chr10:52771470	MBL2	K56E	Mannose-binding lectin deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30014940.	NM_001378373.1(MBL2):c.302C>T (p.Pro101Leu) GRCh37: Chr10:54530432 GRCh38: Chr10:52770672	MBL2	P101L	Mannose-binding lectin deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30014841.	NM_001378373.1(MBL2):c.378C>G (p.Leu126=) GRCh37: Chr10:54528266 GRCh38: Chr10:52768506	MBL2		not specified, Mannose-binding lectin deficiency	Benign/Likely benign (Apr 27, 2017)	criteria provided, multiple submitters, no conflicts
Select item 30014742.	NM_001378373.1(MBL2):c.483T>C (p.Ser161=) GRCh37: Chr10:54528161 GRCh38: Chr10:52768401	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30014643.	NM_001378373.1(MBL2):c.*99T>G GRCh37: Chr10:54527798 GRCh38: Chr10:52768038	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30014544.	NM_001378373.1(MBL2):c.*282A>G GRCh37: Chr10:54527615 GRCh38: Chr10:52767855	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30014445.	NM_001378373.1(MBL2):c.*289C>T GRCh37: Chr10:54527608 GRCh38: Chr10:52767848	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30014346.	NM_001378373.1(MBL2):c.*324C>T GRCh37: Chr10:54527573 GRCh38: Chr10:52767813	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30014247.	NM_001378373.1(MBL2):c.*447G>C GRCh37: Chr10:54527450 GRCh38: Chr10:52767690	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30014148.	NM_001378373.1(MBL2):c.*674A>G GRCh37: Chr10:54527223 GRCh38: Chr10:52767463	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30014049.	NM_001378373.1(MBL2):c.*675C>T GRCh37: Chr10:54527222 GRCh38: Chr10:52767462	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30013950.	NM_001378373.1(MBL2):c.*865A>C GRCh37: Chr10:54527032 GRCh38: Chr10:52767272	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30013851.	NM_001378373.1(MBL2):c.*937A>G GRCh37: Chr10:54526960 GRCh38: Chr10:52767200	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30013752.	NM_001378373.1(MBL2):c.*953T>C GRCh37: Chr10:54526944 GRCh38: Chr10:52767184	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30013653.	NM_001378373.1(MBL2):c.*1088C>T GRCh37: Chr10:54526809 GRCh38: Chr10:52767049	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30013554.	NM_001378373.1(MBL2):c.*1134C>T GRCh37: Chr10:54526763 GRCh38: Chr10:52767003	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30013455.	NM_001378373.1(MBL2):c.*1135A>G GRCh37: Chr10:54526762 GRCh38: Chr10:52767002	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30013356.	NM_001378373.1(MBL2):c.*1136A>G GRCh37: Chr10:54526761 GRCh38: Chr10:52767001	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30013257.	NM_001378373.1(MBL2):c.*1144A>G GRCh37: Chr10:54526753 GRCh38: Chr10:52766993	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30013158.	NM_001378373.1(MBL2):c.*1275T>C GRCh37: Chr10:54526622 GRCh38: Chr10:52766862	MBL2		Mannose-binding lectin deficiency, not provided	Likely benign (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30013059.	NM_001378373.1(MBL2):c.*1287C>T GRCh37: Chr10:54526610 GRCh38: Chr10:52766850	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30012960.	NM_001378373.1(MBL2):c.*1429A>C GRCh37: Chr10:54526468 GRCh38: Chr10:52766708	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30012861.	NM_001378373.1(MBL2):c.*1452A>T GRCh37: Chr10:54526445 GRCh38: Chr10:52766685	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30012762.	NM_001378373.1(MBL2):c.*1498C>T GRCh37: Chr10:54526399 GRCh38: Chr10:52766639	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30012663.	NM_001378373.1(MBL2):c.*1568C>T GRCh37: Chr10:54526329 GRCh38: Chr10:52766569	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30012564.	NM_001378373.1(MBL2):c.*1569A>G GRCh37: Chr10:54526328 GRCh38: Chr10:52766568	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30012465.	NM_001378373.1(MBL2):c.*1691G>A GRCh37: Chr10:54526206 GRCh38: Chr10:52766446	MBL2		Mannose-binding lectin deficiency	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30012366.	NM_001378373.1(MBL2):c.*1694G>T GRCh37: Chr10:54526203 GRCh38: Chr10:52766443	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30012267.	NM_001378373.1(MBL2):c.*1695G>T GRCh37: Chr10:54526202 GRCh38: Chr10:52766442	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30012168.	NM_001378373.1(MBL2):c.*1711T>G GRCh37: Chr10:54526186 GRCh38: Chr10:52766426	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30012069.	NM_001378373.1(MBL2):c.*1819T>C GRCh37: Chr10:54526078 GRCh38: Chr10:52766318	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30011970.	NM_001378373.1(MBL2):c.*1857A>G GRCh37: Chr10:54526040 GRCh38: Chr10:52766280	MBL2		Mannose-binding lectin deficiency	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30011871.	NM_001378373.1(MBL2):c.*1879A>C GRCh37: Chr10:54526018 GRCh38: Chr10:52766258	MBL2		Mannose-binding lectin deficiency	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30011772.	NM_001378373.1(MBL2):c.*1913C>T GRCh37: Chr10:54525984 GRCh38: Chr10:52766224	MBL2		Mannose-binding lectin deficiency	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30011673.	NM_001378373.1(MBL2):c.*1995del GRCh37: Chr10:54525902 GRCh38: Chr10:52766142	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30011574.	NM_001378373.1(MBL2):c.*2033G>A GRCh37: Chr10:54525864 GRCh38: Chr10:52766104	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30011475.	NM_001378373.1(MBL2):c.*2040G>T GRCh37: Chr10:54525857 GRCh38: Chr10:52766097	MBL2		Mannose-binding lectin deficiency	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30011376.	NM_001378373.1(MBL2):c.*2048A>G GRCh37: Chr10:54525849 GRCh38: Chr10:52766089	MBL2		Mannose-binding lectin deficiency	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30011277.	NM_001378373.1(MBL2):c.*2066G>T GRCh37: Chr10:54525831 GRCh38: Chr10:52766071	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30011178.	NM_001378373.1(MBL2):c.*2067C>T GRCh37: Chr10:54525830 GRCh38: Chr10:52766070	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30011079.	NM_001378373.1(MBL2):c.*2219A>C GRCh37: Chr10:54525678 GRCh38: Chr10:52765918	MBL2		Mannose-binding lectin deficiency	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30010980.	NM_001378373.1(MBL2):c.*2388T>G GRCh37: Chr10:54525509 GRCh38: Chr10:52765749	MBL2		Mannose-binding lectin deficiency	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30010881.	NM_001378373.1(MBL2):c.*2450A>T GRCh37: Chr10:54525447 GRCh38: Chr10:52765687	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30010782.	NM_001378373.1(MBL2):c.*2470A>C GRCh37: Chr10:54525427 GRCh38: Chr10:52765667	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30010683.	NM_001378373.1(MBL2):c.*2477C>T GRCh37: Chr10:54525420 GRCh38: Chr10:52765660	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30010584.	NM_001378373.1(MBL2):c.*2702G>A GRCh37: Chr10:54525195 GRCh38: Chr10:52765435	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30010485.	NM_001378373.1(MBL2):c.*2727G>T GRCh37: Chr10:54525170 GRCh38: Chr10:52765410	MBL2		Mannose-binding lectin deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 1435286.	NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys) GRCh37: Chr10:54531242 GRCh38: Chr10:52771482	MBL2		not provided, Mannose-binding lectin deficiency	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 1435187.	NM_001378373.1(MBL2):c.170G>A (p.Gly57Glu) GRCh37: Chr10:54531226 GRCh38: Chr10:52771466	MBL2	G57E	not specified, not provided, Mannose-binding lectin deficiency	Benign/Likely benign (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1435088.	NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp) GRCh37: Chr10:54531235 GRCh38: Chr10:52771475	MBL2		not specified, not provided, Mannose-binding lectin deficiency	Conflicting interpretations of pathogenicity (Dec 1, 2022)	criteria provided, conflicting interpretations

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Items: 88