ClinVar for MedGen (Select 334114) - ClinVar

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Items: 84

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13422231.	NM_001173990.3:c.432-11_432-10insA	TMEM216		Joubert syndrome 2, Meckel syndrome, type 2	Benign (Sep 10, 2021)	criteria provided, single submitter
Select item 10419992.	NM_001173990.3(TMEM216):c.295T>C (p.Ser99Pro) GRCh37: Chr11:61165311 GRCh38: Chr11:61397839	TMEM216	S38P, S99P	Familial aplasia of the vermis	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 10396503.	NM_001173990.3(TMEM216):c.230-10T>C GRCh37: Chr11:61165236 GRCh38: Chr11:61397764	TMEM216		Familial aplasia of the vermis	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 9911194.	NM_001173990.3(TMEM216):c.336C>T (p.Tyr112=) GRCh37: Chr11:61165352 GRCh38: Chr11:61397880	TMEM216		Familial aplasia of the vermis	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 9911185.	NM_001173990.3(TMEM216):c.137-7T>C GRCh37: Chr11:61161349 GRCh38: Chr11:61393877	TMEM216		Joubert syndrome 2	Uncertain significance (Apr 14, 2020)	no assertion criteria provided
Select item 9911176.	NM_001173990.3(TMEM216):c.26C>T (p.Ala9Val) GRCh37: Chr11:61160129 GRCh38: Chr11:61392657	TMEM216	A9V	Inborn genetic diseases, Familial aplasia of the vermis	Uncertain significance (Apr 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9703677.	NM_001173990.3(TMEM216):c.359T>C (p.Met120Thr) GRCh37: Chr11:61165375 GRCh38: Chr11:61397903	TMEM216	M120T, M59T	Familial aplasia of the vermis, Inborn genetic diseases, not provided	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9617728.	NM_001173990.3(TMEM216):c.230-2A>G GRCh37: Chr11:61165244 GRCh38: Chr11:61397772	TMEM216		Joubert syndrome 2, Meckel syndrome, type 2, Familial aplasia of the vermis	Likely pathogenic (Aug 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 8789869.	NM_001173990.3(TMEM216):c.*548T>A GRCh37: Chr11:61166296 GRCh38: Chr11:61398824	TMEM216		Meckel syndrome, type 2, Joubert syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87893510.	NM_001173990.3(TMEM216):c.382T>C (p.Cys128Arg) GRCh37: Chr11:61165398 GRCh38: Chr11:61397926	TMEM216	C128R, C67R	Familial aplasia of the vermis, Meckel syndrome, type 2, Joubert syndrome 2	Uncertain significance (Feb 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87888711.	NM_001173990.2(TMEM216):c.-86G>A GRCh37: Chr11:61160018 GRCh38: Chr11:61392546	TMEM216		Meckel syndrome, type 2, Joubert syndrome 2	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 87839412.	NM_001173990.3(TMEM216):c.*525T>G GRCh37: Chr11:61166273 GRCh38: Chr11:61398801	TMEM216		Meckel syndrome, type 2, Joubert syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87839313.	NM_001173990.3(TMEM216):c.*393C>T GRCh37: Chr11:61166141 GRCh38: Chr11:61398669	TMEM216		Meckel syndrome, type 2, Joubert syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87839214.	NM_001173990.3(TMEM216):c.*377T>C GRCh37: Chr11:61166125 GRCh38: Chr11:61398653	TMEM216		Meckel syndrome, type 2, Joubert syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87830415.	NM_001173990.2(TMEM216):c.-264C>T GRCh37: Chr11:61159840 GRCh38: Chr11:61392368	TMEM216		Meckel syndrome, type 2, Joubert syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87830316.	NM_001173990.2(TMEM216):c.-285A>G GRCh37: Chr11:61159819 GRCh38: Chr11:61392347	TMEM216		Meckel syndrome, type 2, Joubert syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87737117.	NM_001173990.3(TMEM216):c.*303C>T GRCh37: Chr11:61166051 GRCh38: Chr11:61398579	TMEM216		Meckel syndrome, type 2, Joubert syndrome 2	Conflicting interpretations of pathogenicity (Jun 29, 2017)	criteria provided, conflicting interpretations
Select item 87737018.	NM_001173990.3(TMEM216):c.*190A>G GRCh37: Chr11:61165938 GRCh38: Chr11:61398466	TMEM216		Meckel syndrome, type 2, Joubert syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 85750619.	NM_001173990.3(TMEM216):c.40C>T (p.Arg14Trp) GRCh37: Chr11:61160708 GRCh38: Chr11:61393236	TMEM216	R14W	Familial aplasia of the vermis	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 85512720.	NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln) GRCh37: Chr11:61160114 GRCh38: Chr11:61392642	TMEM216	R4Q	Familial aplasia of the vermis, Inborn genetic diseases	Uncertain significance (Mar 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 85104321.	NM_001173990.3(TMEM216):c.254G>A (p.Arg85Gln) GRCh37: Chr11:61165270 GRCh38: Chr11:61397798	TMEM216	R85Q, R24Q	Familial aplasia of the vermis	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 70410422.	NM_001173990.3(TMEM216):c.229+10G>A GRCh37: Chr11:61161458 GRCh38: Chr11:61393986	TMEM216		Familial aplasia of the vermis	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 70110423.	NM_001173990.3(TMEM216):c.324G>A (p.Leu108=) GRCh37: Chr11:61165340 GRCh38: Chr11:61397868	TMEM216		Familial aplasia of the vermis	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 70094924.	NM_001173990.3(TMEM216):c.123A>C (p.Ile41=) GRCh37: Chr11:61160791 GRCh38: Chr11:61393319	TMEM216		Familial aplasia of the vermis	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 59860025.	NM_001173990.3(TMEM216):c.57G>T (p.Pro19=) GRCh37: Chr11:61160725 GRCh38: Chr11:61393253	TMEM216		Meckel syndrome, type 2, Familial aplasia of the vermis, not provided, Joubert syndrome 2	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 59758326.	NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly) GRCh37: Chr11:61160781 GRCh38: Chr11:61393309	TMEM216	E38G	not provided, Familial aplasia of the vermis	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59697427.	NM_001173990.3(TMEM216):c.*6A>G GRCh37: Chr11:61165754 GRCh38: Chr11:61398282	TMEM216		not provided	Uncertain significance (Apr 26, 2018)	criteria provided, single submitter
Select item 55846128.	NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTG GRCh37: Chr11:61165732-61165734 GRCh38: Chr11:61398260-61398262	TMEM216		Joubert syndrome 2, Meckel syndrome, type 2	Uncertain significance (May 23, 2018)	criteria provided, single submitter
Select item 55841729.	NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs) GRCh37: Chr11:61165332-61165333 GRCh38: Chr11:61397860-61397861	TMEM216	Y106fs, Y45fs	Joubert syndrome 2, Meckel syndrome, type 2	Likely pathogenic (May 22, 2018)	criteria provided, single submitter
Select item 55821830.	NM_001173990.3(TMEM216):c.137-1G>A GRCh37: Chr11:61161355 GRCh38: Chr11:61393883	TMEM216		Joubert syndrome 2, Meckel syndrome, type 2, Familial aplasia of the vermis	Likely pathogenic (Sep 5, 2018)	criteria provided, multiple submitters, no conflicts
Select item 55753231.	NM_001173990.3(TMEM216):c.230-9dup GRCh37: Chr11:61165236-61165237 GRCh38: Chr11:61397764-61397765	TMEM216		Joubert syndrome 2, Meckel syndrome, type 2	Uncertain significance (Mar 28, 2018)	criteria provided, single submitter
Select item 55751732.	NM_001173990.3(TMEM216):c.1A>G (p.Met1Val) GRCh37: Chr11:61160104 GRCh38: Chr11:61392632	TMEM216	M1V	Joubert syndrome 2, Meckel syndrome, type 2	Uncertain significance (Mar 27, 2018)	criteria provided, single submitter
Select item 55751633.	NM_001173990.3(TMEM216):c.2T>C (p.Met1Thr) GRCh37: Chr11:61160105 GRCh38: Chr11:61392633	TMEM216	M1T	Joubert syndrome 2, Meckel syndrome, type 2	Uncertain significance (Mar 27, 2018)	criteria provided, single submitter
Select item 55744434.	NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs) GRCh37: Chr11:61160094-61160113 GRCh38: Chr11:61392622-61392641	TMEM216	M1fs	Joubert syndrome 2, Meckel syndrome, type 2	Uncertain significance (Mar 27, 2018)	criteria provided, single submitter
Select item 55730635.	NM_001173990.3(TMEM216):c.432-10delinsAA GRCh37: Chr11:61165732 GRCh38: Chr11:61398260	TMEM216		Joubert syndrome 2, Meckel syndrome, type 2	Uncertain significance (Mar 21, 2018)	criteria provided, single submitter
Select item 55622236.	NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys) GRCh37: Chr11:61160105 GRCh38: Chr11:61392633	TMEM216	M1K	Joubert syndrome 2, Meckel syndrome, type 2, Familial aplasia of the vermis	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55470637.	NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter) GRCh37: Chr11:61165352 GRCh38: Chr11:61397880	TMEM216	Y51, Y112	Joubert syndrome 2, Meckel syndrome, type 2	Likely pathogenic (Nov 1, 2017)	criteria provided, single submitter
Select item 55303438.	NM_001173990.3(TMEM216):c.338dup (p.Leu114fs) GRCh37: Chr11:61165353-61165354 GRCh38: Chr11:61397881-61397882	TMEM216	L53fs, L114fs	Joubert syndrome 2, Meckel syndrome, type 2	Uncertain significance (Jul 25, 2017)	criteria provided, single submitter
Select item 55251039.	NM_001173990.3(TMEM216):c.432-10delinsAC GRCh37: Chr11:61165732 GRCh38: Chr11:61398260	TMEM216		Joubert syndrome 2, Meckel syndrome, type 2	Uncertain significance (Jun 13, 2017)	criteria provided, single submitter
Select item 55183140.	NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs) GRCh37: Chr11:61161380-61161384 GRCh38: Chr11:61393908-61393912	TMEM216	N55fs	Joubert syndrome 2, Meckel syndrome, type 2	Likely pathogenic (May 9, 2017)	criteria provided, single submitter
Select item 55142941.	NM_001173990.3(TMEM216):c.34+18_34+21del GRCh37: Chr11:61160152-61160155 GRCh38: Chr11:61392680-61392683	TMEM216		Joubert syndrome 2, Meckel syndrome, type 2, Familial aplasia of the vermis, not provided	Conflicting interpretations of pathogenicity (Jan 27, 2023)	criteria provided, conflicting interpretations
Select item 50020342.	NM_001173990.3(TMEM216):c.343C>T (p.Arg115Cys) GRCh37: Chr11:61165359 GRCh38: Chr11:61397887	TMEM216	R115C, R54C	Familial aplasia of the vermis, not provided	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49887043.	NM_001173990.3(TMEM216):c.123A>T (p.Ile41=) GRCh37: Chr11:61160791 GRCh38: Chr11:61393319	TMEM216		not provided, Familial aplasia of the vermis	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 45267244.	NM_001173990.3(TMEM216):c.7C>A (p.Pro3Thr) GRCh37: Chr11:61160110 GRCh38: Chr11:61392638	TMEM216	P3T	not provided, Familial aplasia of the vermis	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40733845.	NM_001173990.3(TMEM216):c.405G>A (p.Glu135=) GRCh37: Chr11:61165421 GRCh38: Chr11:61397949	TMEM216		Familial aplasia of the vermis	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 37690246.	NM_001173990.3(TMEM216):c.35-13_36del GRCh37: Chr11:61160688-61160702 GRCh38: Chr11:61393216-61393230	TMEM216		not provided, Familial aplasia of the vermis	Likely pathogenic (May 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37177847.	NM_001173990.3(TMEM216):c.35-2A>G GRCh37: Chr11:61160701 GRCh38: Chr11:61393229	TMEM216		Meckel syndrome, type 2, Joubert syndrome 2, Familial aplasia of the vermis	Likely pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37176348.	NM_001173990.3(TMEM216):c.228del (p.Phe76fs) GRCh37: Chr11:61161442 GRCh38: Chr11:61393970	TMEM216	F76fs, F15fs	Meckel syndrome, type 2, Joubert syndrome 2	Likely pathogenic (Aug 4, 2016)	criteria provided, single submitter
Select item 37175949.	NM_001173990.3(TMEM216):c.222del (p.Phe76fs) GRCh37: Chr11:61161441 GRCh38: Chr11:61393969	TMEM216	F76fs, F15fs	Joubert syndrome 2, not provided, Meckel syndrome, type 2	Likely pathogenic (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37174050.	NM_001173990.3(TMEM216):c.34+2T>C GRCh37: Chr11:61160139 GRCh38: Chr11:61392667	TMEM216		Meckel syndrome, type 2, Joubert syndrome 2, Meckel syndrome, type 2, Familial aplasia of the vermis, Joubert syndrome 2	Likely pathogenic (Mar 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37171051.	NM_001173990.3(TMEM216):c.228dup (p.Gly77fs) GRCh37: Chr11:61161441-61161442 GRCh38: Chr11:61393969-61393970	TMEM216	G16fs, G77fs	Meckel syndrome, type 2, Familial aplasia of the vermis, Joubert syndrome 2	Pathogenic/Likely pathogenic (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30509052.	NM_001173990.3(TMEM216):c.*558G>A GRCh37: Chr11:61166306 GRCh38: Chr11:61398834	TMEM216		Meckel syndrome, type 2, Joubert syndrome 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30508953.	NM_001173990.3(TMEM216):c.*444T>C GRCh37: Chr11:61166192 GRCh38: Chr11:61398720	TMEM216		not provided, Meckel syndrome, type 2, Joubert syndrome 2	Benign/Likely benign (May 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30508854.	NM_001173990.3(TMEM216):c.*372C>T GRCh37: Chr11:61166120 GRCh38: Chr11:61398648	TMEM216		Meckel syndrome, type 2, Joubert syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30508755.	NM_001173990.3(TMEM216):c.*335G>A GRCh37: Chr11:61166083 GRCh38: Chr11:61398611	TMEM216		Meckel syndrome, type 2, Joubert syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30508656.	NM_001173990.3(TMEM216):c.*247C>T GRCh37: Chr11:61165995 GRCh38: Chr11:61398523	TMEM216		Meckel syndrome, type 2, Joubert syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30508557.	NM_001173990.3(TMEM216):c.*107G>T GRCh37: Chr11:61165855 GRCh38: Chr11:61398383	TMEM216		Meckel syndrome, type 2, Joubert syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30508458.	NM_001173990.3(TMEM216):c.*93T>C GRCh37: Chr11:61165841 GRCh38: Chr11:61398369	TMEM216		Meckel syndrome, type 2, Joubert syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30508159.	NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) GRCh37: Chr11:61165436 GRCh38: Chr11:61397964	TMEM216		not provided, Joubert syndrome 2, Meckel syndrome, type 2, Familial aplasia of the vermis	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 30508060.	NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) GRCh37: Chr11:61165374 GRCh38: Chr11:61397902	TMEM216	M120V, M59V	Inborn genetic diseases, Familial aplasia of the vermis, Meckel syndrome, type 2, Joubert syndrome 2, not specified	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 30507961.	NM_001173990.3(TMEM216):c.344G>A (p.Arg115His) GRCh37: Chr11:61165360 GRCh38: Chr11:61397888	TMEM216	R115H, R54H	Inborn genetic diseases, not provided, not specified, Meckel syndrome, type 2, Familial aplasia of the vermis, Joubert syndrome 2	Uncertain significance (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30507862.	NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) GRCh37: Chr11:61165305 GRCh38: Chr11:61397833	TMEM216	F36I, F97I	not provided, Meckel syndrome, type 2, Joubert syndrome 2, Familial aplasia of the vermis	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30507663.	NM_001173990.3(TMEM216):c.-24C>T GRCh37: Chr11:61160080 GRCh38: Chr11:61392608	TMEM216		Meckel syndrome, type 2, not specified, Joubert syndrome 2	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 30507564.	NM_001173990.2(TMEM216):c.-91G>A GRCh37: Chr11:61160013 GRCh38: Chr11:61392541	TMEM216		Meckel syndrome, type 2, Joubert syndrome 2	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 30507465.	NM_001173990.2(TMEM216):c.-128A>C GRCh37: Chr11:61159976 GRCh38: Chr11:61392504	TMEM216		Meckel syndrome, type 2, Joubert syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30507366.	NM_001173990.2(TMEM216):c.-135T>C GRCh37: Chr11:61159969 GRCh38: Chr11:61392497	TMEM216		Meckel syndrome, type 2, Joubert syndrome 2	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 30507267.	NM_001173990.2(TMEM216):c.-242C>T GRCh37: Chr11:61159862 GRCh38: Chr11:61392390	TMEM216		Meckel syndrome, type 2, Joubert syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 28998168.	NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) GRCh37: Chr11:61161359 GRCh38: Chr11:61393887	TMEM216	V47A	Joubert syndrome 2, Meckel syndrome, type 2, not provided, Meckel syndrome, type 2, Familial aplasia of the vermis, Joubert syndrome 2	Uncertain significance (Apr 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 28904069.	NM_001173990.3(TMEM216):c.277G>A (p.Val93Met) GRCh37: Chr11:61165293 GRCh38: Chr11:61397821	TMEM216	V32M, V93M	not provided, Familial aplasia of the vermis	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28294770.	NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) GRCh37: Chr11:61165269 GRCh38: Chr11:61397797	TMEM216		not provided, not specified, Familial aplasia of the vermis, Joubert syndrome 2, Meckel syndrome, type 2	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25759771.	NM_001173990.3(TMEM216):c.35-17C>T GRCh37: Chr11:61160686 GRCh38: Chr11:61393214	TMEM216		not specified, not provided, Joubert syndrome 2, Meckel syndrome, type 2, Familial aplasia of the vermis	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25759572.	NM_001173990.3(TMEM216):c.-24C>G GRCh37: Chr11:61160080 GRCh38: Chr11:61392608	TMEM216		Joubert syndrome 2, Meckel syndrome, type 2, not specified	Benign/Likely benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 25759473.	NM_001173990.3(TMEM216):c.*21A>G GRCh37: Chr11:61165769 GRCh38: Chr11:61398297	TMEM216		Joubert syndrome 2, not specified, not provided, Meckel syndrome, type 2	Conflicting interpretations of pathogenicity (Apr 3, 2020)	criteria provided, conflicting interpretations
Select item 21770674.	NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) GRCh37: Chr11:61161435 GRCh38: Chr11:61393963	TMEM216		not specified, Joubert syndrome 2, Familial aplasia of the vermis	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 21770575.	NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) GRCh37: Chr11:61161436 GRCh38: Chr11:61393964	TMEM216	R12C, R73C	Joubert syndrome 2, Familial aplasia of the vermis, Abnormality of the nervous system, not provided	Conflicting interpretations of pathogenicity (Aug 26, 2022)	criteria provided, conflicting interpretations
Select item 21770476.	NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) GRCh37: Chr11:61165414 GRCh38: Chr11:61397942	TMEM216	L133, L72	Joubert syndrome 2, Joubert syndrome 2, Meckel syndrome, type 2, not provided, Familial aplasia of the vermis	Pathogenic/Likely pathogenic (Apr 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19632077.	NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) GRCh37: Chr11:61161430 GRCh38: Chr11:61393958	TMEM216	V10L, V71L	not specified, Familial aplasia of the vermis	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 19318978.	NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) GRCh37: Chr11:61160108 GRCh38: Chr11:61392636	TMEM216	L2P	not provided, Meckel syndrome, type 2, Joubert syndrome 2, Familial aplasia of the vermis	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 19318879.	NM_001173990.3(TMEM216):c.-2G>T GRCh37: Chr11:61160102 GRCh38: Chr11:61392630	TMEM216		not specified, not provided, Meckel syndrome, type 2, Joubert syndrome 2, Familial aplasia of the vermis	Benign (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12629780.	NM_001173990.3(TMEM216):c.432-1G>C GRCh37: Chr11:61165741 GRCh38: Chr11:61398269	TMEM216	R147T, R86T	Joubert syndrome 2, not specified, not provided, Meckel syndrome, type 2, Joubert syndrome 1, Familial aplasia of the vermis	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12629681.	NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) GRCh37: Chr11:61165280 GRCh38: Chr11:61397808	TMEM216		Joubert syndrome 2, not specified, not provided, Meckel syndrome, type 2, Familial aplasia of the vermis	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5638482.	NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) GRCh37: Chr11:61165269 GRCh38: Chr11:61397797	TMEM216	R24, R85	Joubert syndrome 2, Meckel syndrome, type 2, TMEM216-Related Disorders, Familial aplasia of the vermis, Joubert syndrome 2, not provided	Pathogenic/Likely pathogenic (Jan 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 19883.	NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) GRCh37: Chr11:61161437 GRCh38: Chr11:61393965	TMEM216	R73H, R12H	Familial aplasia of the vermis	Pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 19784.	NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) GRCh37: Chr11:61161437 GRCh38: Chr11:61393965	TMEM216	R73L, R12L	TMEM216-Related Disorders, Inborn genetic diseases, Meckel syndrome, type 2, Joubert syndrome 2, Meckel syndrome, type 2, not provided, Familial aplasia of the vermis, Joubert syndrome 2	Pathogenic (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 84