ClinVar for MedGen (Select 351059) - ClinVar

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Items: 63

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 9617722.	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 8789863.	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 8789354.	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 8788875.	NM_001173990.2(TMEM216):c.-86G>A GRCh37: Chr11:61160018 GRCh38: Chr11:61392546	TMEM216		Joubert syndrome 2, Meckel syndrome, type 2	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 8783946.	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 8783937.	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 8783928.	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 8783049.	NM_001173990.2(TMEM216):c.-264C>T GRCh37: Chr11:61159840 GRCh38: Chr11:61392368	TMEM216		Joubert syndrome 2, Meckel syndrome, type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87830310.	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 87737111.	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 87737012.	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 59860013.	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 55846114.	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 55841715.	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 55821816.	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 55753217.	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 55751718.	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 55751619.	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 55744420.	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 55730621.	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 55622222.	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 55470623.	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 55303424.	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 55251025.	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 55183126.	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 55142927.	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 37177828.	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 37176329.	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 37175930.	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 37174031.	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 37171032.	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 30509033.	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 30508934.	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 30508835.	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 30508736.	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 30508637.	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 30508538.	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 30508439.	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 30508140.	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 30508041.	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 30507942.	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 30507843.	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 30507644.	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 30507545.	NM_001173990.2(TMEM216):c.-91G>A GRCh37: Chr11:61160013 GRCh38: Chr11:61392541	TMEM216		Joubert syndrome 2, Meckel syndrome, type 2	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 30507446.	NM_001173990.2(TMEM216):c.-128A>C GRCh37: Chr11:61159976 GRCh38: Chr11:61392504	TMEM216		Joubert syndrome 2, Meckel syndrome, type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30507347.	NM_001173990.2(TMEM216):c.-135T>C GRCh37: Chr11:61159969 GRCh38: Chr11:61392497	TMEM216		Joubert syndrome 2, Meckel syndrome, type 2	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 30507248.	NM_001173990.2(TMEM216):c.-242C>T GRCh37: Chr11:61159862 GRCh38: Chr11:61392390	TMEM216		Joubert syndrome 2, Meckel syndrome, type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 28998149.	NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) GRCh37: Chr11:61161359 GRCh38: Chr11:61393887	TMEM216	V47A	Meckel syndrome, type 2, Joubert syndrome 2, Meckel syndrome, type 2, Familial aplasia of the vermis, not provided, Joubert syndrome 2	Uncertain significance (Apr 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 28294750.	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 25759751.	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 25759552.	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 25759453.	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 21770454.	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 19318955.	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 19318856.	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 12629757.	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 12629658.	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 5638459.	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, Familial aplasia of the vermis, TMEM216-Related Disorders, not provided, Joubert syndrome 2	Pathogenic/Likely pathogenic (Jan 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 20060.	NM_001173990.3(TMEM216):c.230G>C (p.Gly77Ala) GRCh37: Chr11:61165246 GRCh38: Chr11:61397774	TMEM216	G77A, G16A	Meckel syndrome, type 2	Pathogenic/Likely pathogenic (Jul 1, 2010)	no assertion criteria provided
Select item 19961.	NM_001173990.3(TMEM216):c.341T>G (p.Leu114Arg) GRCh37: Chr11:61165357 GRCh38: Chr11:61397885	TMEM216	L114R, L53R	Meckel syndrome, type 2	Pathogenic/Likely pathogenic (Jul 1, 2010)	no assertion criteria provided
Select item 19862.	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 19763.	NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) GRCh37: Chr11:61161437 GRCh38: Chr11:61393965	TMEM216	R73L, R12L	TMEM216-Related Disorders, Joubert syndrome 2, Meckel syndrome, type 2, Inborn genetic diseases, not provided, Meckel syndrome, type 2, Familial aplasia of the vermis, Joubert syndrome 2	Pathogenic (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 63