ClinVar for MedGen (Select 382940) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24301361.	NM_001378615.1(CC2D2A):c.4230G>T (p.Trp1410Cys) GRCh37: Chr4:15591218 GRCh38: Chr4:15589595	CC2D2A	W1302C, W1361C, W1410C	Joubert syndrome 9	Likely pathogenic (Jan 23, 2023)	criteria provided, single submitter
Select item 18057182.	NM_001378615.1(CC2D2A):c.2710G>T (p.Glu904Ter) GRCh37: Chr4:15559011 GRCh38: Chr4:15557388	CC2D2A	E855, E904	Joubert syndrome 9	Pathogenic (Jul 2, 2020)	criteria provided, single submitter
Select item 15253163.	NM_001378615.1(CC2D2A):c.248-4_248-3insAAGTTTT GRCh37: Chr4:15504044-15504045 GRCh38: Chr4:15502421-15502422	CC2D2A		Retinitis pigmentosa 93, COACH syndrome 2, Meckel syndrome, type 6, Joubert syndrome 9, Familial aplasia of the vermis, Meckel-Gruber syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13958274.	NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter) GRCh37: Chr4:15575866 GRCh38: Chr4:15574243	CC2D2A	R1230, R1181	Joubert syndrome 9, not provided, Familial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 1	Pathogenic (Jun 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13535555.	NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp) GRCh37: Chr4:15542466 GRCh38: Chr4:15540843	CC2D2A	E621D, E670D	Familial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 9	Conflicting interpretations of pathogenicity (Aug 22, 2022)	criteria provided, conflicting interpretations
Select item 13502256.	NM_001378615.1(CC2D2A):c.1127A>T (p.Glu376Val) GRCh37: Chr4:15518357 GRCh38: Chr4:15516734	CC2D2A	E327V, E376V	Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6, Retinitis pigmentosa 93, Joubert syndrome 9, COACH syndrome 2	Uncertain significance (Jun 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13417177.	NM_001378615.1(CC2D2A):c.676G>A (p.Glu226Lys) GRCh37: Chr4:15513005 GRCh38: Chr4:15511382	CC2D2A	E177K, E226K	Joubert syndrome 9, COACH syndrome 1, Meckel syndrome, type 6, Familial aplasia of the vermis, Meckel-Gruber syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13336618.	NM_001378615.1(CC2D2A):c.2162C>T (p.Pro721Leu) GRCh37: Chr4:15542618 GRCh38: Chr4:15540995	CC2D2A	P672L, P721L	Familial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 9	Uncertain significance (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13280119.	NM_001378615.1(CC2D2A):c.4675-15G>A GRCh37: Chr4:15602845 GRCh38: Chr4:15601222	CC2D2A		Meckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 6, Joubert syndrome 9, COACH syndrome 2, Retinitis pigmentosa 93	Likely benign (Sep 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132011210.	NM_001378615.1(CC2D2A):c.4389A>C (p.Lys1463Asn) GRCh37: Chr4:15597782 GRCh38: Chr4:15596159	CC2D2A	K1414N, K1463N	Joubert syndrome 9	Uncertain significance (Oct 2, 2021)	criteria provided, single submitter
Select item 131844711.	NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly) GRCh37: Chr4:15517542 GRCh38: Chr4:15515919	CC2D2A	D262G, D311G	Meckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 6, Joubert syndrome 9, COACH syndrome 2, Retinitis pigmentosa 93, not provided	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131748612.	NM_001378615.1(CC2D2A):c.4333C>T (p.Arg1445Ter) GRCh37: Chr4:15597726 GRCh38: Chr4:15596103	CC2D2A	R1396, R1445	Meckel-Gruber syndrome, Familial aplasia of the vermis, not provided, Joubert syndrome 9	Pathogenic/Likely pathogenic (Aug 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130157213.	NM_001378615.1(CC2D2A):c.3601G>A (p.Gly1201Arg) GRCh37: Chr4:15575779 GRCh38: Chr4:15574156	CC2D2A	G1152R, G1201R	not provided	Uncertain significance (Dec 17, 2022)	criteria provided, single submitter
Select item 128542914.	NM_001378615.1(CC2D2A):c.4786G>A (p.Ala1596Thr) GRCh37: Chr4:15602971 GRCh38: Chr4:15601348	CC2D2A	A1547T, A1596T	Joubert syndrome 9	Likely pathogenic (Oct 27, 2020)	criteria provided, single submitter
Select item 119262215.	NM_001378615.1(CC2D2A):c.3595-55C>G GRCh37: Chr4:15575718 GRCh38: Chr4:15574095	CC2D2A		not provided, Meckel syndrome, type 6, Joubert syndrome 9	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 119254016.	NM_001378615.1(CC2D2A):c.40-122A>C GRCh37: Chr4:15480225 GRCh38: Chr4:15478601	CC2D2A		Joubert syndrome 9, Meckel syndrome, type 6, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 110980317.	NM_001378615.1(CC2D2A):c.786C>T (p.Asp262=) GRCh37: Chr4:15516398 GRCh38: Chr4:15514775	CC2D2A		Retinitis pigmentosa 93, COACH syndrome 2, Meckel syndrome, type 6, Joubert syndrome 9, Familial aplasia of the vermis, Meckel-Gruber syndrome	Likely benign (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107190518.	NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs) GRCh37: Chr4:15591243 GRCh38: Chr4:15589620	CC2D2A	G1370fs, G1419fs	Familial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 9, Inborn genetic diseases	Pathogenic (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106578719.	NM_001378615.1(CC2D2A):c.3195del (p.Gln1065fs) GRCh37: Chr4:15569012 GRCh38: Chr4:15567389	CC2D2A	Q1016fs, Q1065fs	Joubert syndrome 9	Likely pathogenic (Apr 8, 2021)	criteria provided, single submitter
Select item 106107120.	NM_001378615.1(CC2D2A):c.298A>C (p.Met100Leu) GRCh37: Chr4:15504102 GRCh38: Chr4:15502479	CC2D2A	M100L, M51L	Inborn genetic diseases, Meckel-Gruber syndrome, Familial aplasia of the vermis, not provided, Joubert syndrome 9, Meckel syndrome, type 6, Retinitis pigmentosa 93, COACH syndrome 2	Uncertain significance (May 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 98252221.	NM_001378615.1(CC2D2A):c.[2803C>T];[934G>A]			Leber congenital amaurosis	Pathogenic (Jul 6, 2020)	criteria provided, single submitter
Select item 98252122.	NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter) GRCh37: Chr4:15559104 GRCh38: Chr4:15557481	CC2D2A	R886, R935	Inborn genetic diseases, Familial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 9, Meckel syndrome, type 6, COACH syndrome 2, Retinitis pigmentosa 93	Pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97386123.	NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs) GRCh37: Chr4:15569024-15569033 GRCh38: Chr4:15567401-15567410	CC2D2A	R1022fs, R1071fs	COACH syndrome 1, Meckel syndrome, type 6, Joubert syndrome 9	Likely pathogenic (May 8, 2020)	criteria provided, single submitter
Select item 96518424.	NM_001378615.1(CC2D2A):c.1340C>T (p.Ala447Val) GRCh37: Chr4:15529260 GRCh38: Chr4:15527637	CC2D2A	A398V, A447V	Joubert syndrome 9, Familial aplasia of the vermis, Meckel-Gruber syndrome, not provided	Uncertain significance (Dec 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93987525.	NM_001378615.1(CC2D2A):c.1994A>G (p.Gln665Arg) GRCh37: Chr4:15539751 GRCh38: Chr4:15538128	CC2D2A	Q616R, Q665R	Meckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 6, Retinitis pigmentosa 93, Joubert syndrome 9, COACH syndrome 2	Uncertain significance (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90315426.	NM_001378615.1(CC2D2A):c.2542A>G (p.Met848Val) GRCh37: Chr4:15556750 GRCh38: Chr4:15555127	CC2D2A	M799V, M848V	Meckel syndrome, type 6, Joubert syndrome 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90315327.	NM_001378615.1(CC2D2A):c.2516C>T (p.Ser839Phe) GRCh37: Chr4:15556724 GRCh38: Chr4:15555101	CC2D2A	S790F, S839F	Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6, Joubert syndrome 9	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90280028.	NM_001378615.1(CC2D2A):c.1955C>T (p.Pro652Leu) GRCh37: Chr4:15539712 GRCh38: Chr4:15538089	CC2D2A	P603L, P652L	Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6, Joubert syndrome 9	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90267429.	NM_001378615.1(CC2D2A):c.563C>T (p.Ala188Val) GRCh37: Chr4:15512892 GRCh38: Chr4:15511269	CC2D2A	A188V, A139V	Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6, Joubert syndrome 9	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 90267330.	NM_001378615.1(CC2D2A):c.451G>T (p.Val151Leu) GRCh37: Chr4:15511774 GRCh38: Chr4:15510151	CC2D2A	V151L, V102L	Meckel syndrome, type 6, Joubert syndrome 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90228131.	NM_001378615.1(CC2D2A):c.2487-6T>C GRCh37: Chr4:15556689 GRCh38: Chr4:15555066	CC2D2A		Meckel syndrome, type 6, Joubert syndrome 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90183932.	NM_001378615.1(CC2D2A):c.1018-11T>C GRCh37: Chr4:15518237 GRCh38: Chr4:15516614	CC2D2A		Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6, Joubert syndrome 9	Conflicting interpretations of pathogenicity (Apr 12, 2022)	criteria provided, conflicting interpretations
Select item 90170533.	NM_001378615.1(CC2D2A):c.4560T>C (p.Asn1520=) GRCh37: Chr4:15601215 GRCh38: Chr4:15599592	CC2D2A		Meckel syndrome, type 6, Joubert syndrome 9	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90129434.	NM_001378615.1(CC2D2A):c.1859G>A (p.Ser620Asn) GRCh37: Chr4:15539616 GRCh38: Chr4:15537993	CC2D2A	S620N, S571N	Meckel syndrome, type 6, Joubert syndrome 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90121735.	NM_001080522.2(CC2D2A):c.*144A>C GRCh37: Chr4:15603192 GRCh38: Chr4:15601569	CC2D2A		Joubert syndrome 9, Meckel syndrome, type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90090636.	NM_001378615.1(CC2D2A):c.258A>G (p.Pro86=) GRCh37: Chr4:15504062 GRCh38: Chr4:15502439	CC2D2A		Familial aplasia of the vermis, Meckel-Gruber syndrome, not provided, Joubert syndrome 9, Meckel syndrome, type 6	Conflicting interpretations of pathogenicity (Aug 1, 2022)	criteria provided, conflicting interpretations
Select item 90065937.	NM_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr) GRCh37: Chr4:15560840 GRCh38: Chr4:15559217	CC2D2A	I912T, I961T	Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6, Joubert syndrome 9	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90013238.	NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu) GRCh37: Chr4:15538665 GRCh38: Chr4:15537042	CC2D2A	S577L, S528L	CC2D2A-related condition, Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6, Inborn genetic diseases, Joubert syndrome 9	Conflicting interpretations of pathogenicity (Nov 17, 2022)	criteria provided, conflicting interpretations
Select item 90006239.	NM_001378615.1(CC2D2A):c.*94T>C GRCh37: Chr4:15603142 GRCh38: Chr4:15601519	CC2D2A		Meckel syndrome, type 6, Joubert syndrome 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89999240.	NM_001378615.1(CC2D2A):c.4022C>G (p.Thr1341Ser) GRCh37: Chr4:15587826 GRCh38: Chr4:15586203	CC2D2A	T1292S, T1341S	Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6, Joubert syndrome 9	Uncertain significance (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89991741.	NM_001378615.1(CC2D2A):c.3272A>T (p.Asp1091Val) GRCh37: Chr4:15569089 GRCh38: Chr4:15567466	CC2D2A	D1042V, D1091V	Meckel syndrome, type 6, Joubert syndrome 9	Uncertain significance (Jan 22, 2018)	criteria provided, single submitter
Select item 89975142.	NM_001378615.1(CC2D2A):c.-47G>A GRCh37: Chr4:15471653 GRCh38: Chr4:15470029	CC2D2A		Meckel syndrome, type 6, Joubert syndrome 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89975043.	NM_001378615.1(CC2D2A):c.-87G>A GRCh37: Chr4:15471613 GRCh38: Chr4:15469989	CC2D2A		Meckel syndrome, type 6, Joubert syndrome 9	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 89952544.	NM_001378615.1(CC2D2A):c.2639G>A (p.Gly880Asp) GRCh37: Chr4:15558940 GRCh38: Chr4:15557317	CC2D2A	G880D, G831D	Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6, Inborn genetic diseases, Joubert syndrome 9	Uncertain significance (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87040145.	NM_001378615.1(CC2D2A):c.438+1G>T GRCh37: Chr4:15504547 GRCh38: Chr4:15502924	CC2D2A		Joubert syndrome 9, Familial aplasia of the vermis, Meckel-Gruber syndrome	Conflicting interpretations of pathogenicity (Feb 26, 2021)	criteria provided, conflicting interpretations
Select item 86324946.	NM_001378615.1(CC2D2A):c.1702G>A (p.Ala568Thr) GRCh37: Chr4:15538637 GRCh38: Chr4:15537014	CC2D2A	A568T, A519T	Meckel syndrome, type 6, Meckel-Gruber syndrome, Familial aplasia of the vermis, Joubert syndrome 9	Conflicting interpretations of pathogenicity (Feb 10, 2022)	criteria provided, conflicting interpretations
Select item 84244047.	NM_001378615.1(CC2D2A):c.3065G>A (p.Arg1022Gln) GRCh37: Chr4:15565028 GRCh38: Chr4:15563405	CC2D2A	R1022Q, R973Q	Joubert syndrome 9, Meckel-Gruber syndrome, Familial aplasia of the vermis	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83997648.	NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter) GRCh37: Chr4:15569336 GRCh38: Chr4:15567713	CC2D2A	R1109, R1060	Meckel syndrome, type 6, Joubert syndrome 9, COACH syndrome 2, Retinitis pigmentosa 93, Meckel-Gruber syndrome, Familial aplasia of the vermis, not provided, Neurodevelopmental disorder	Pathogenic/Likely pathogenic (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80082349.	NM_005585.5(SMAD6):c.1024C>T (p.Arg342Cys) GRCh37: Chr15:67073406 GRCh38: Chr15:66781068	SMAD6	R342C	Joubert syndrome 9	Uncertain significance (Aug 25, 2019)	no assertion criteria provided
Select item 80082250.	NM_033337.3(CAV3):c.302G>T (p.Trp101Leu) GRCh37: Chr3:8787399 GRCh38: Chr3:8745713	OXTR, CAV3	W101L	Joubert syndrome 9	Uncertain significance (Aug 25, 2019)	no assertion criteria provided
Select item 66028451.	NM_001378615.1(CC2D2A):c.2437G>A (p.Gly813Arg) GRCh37: Chr4:15554879 GRCh38: Chr4:15553256	CC2D2A	G813R, G764R	Familial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 9, Meckel syndrome, type 6	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65272652.	NM_001378615.1(CC2D2A):c.650del (p.Gly217fs) GRCh37: Chr4:15512977 GRCh38: Chr4:15511354	CC2D2A	G217fs, G168fs	Familial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 9	Pathogenic (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63799753.	NM_001378615.1(CC2D2A):c.4021_4022del (p.Thr1341fs) GRCh37: Chr4:15587823-15587824 GRCh38: Chr4:15586200-15586201	CC2D2A	T1341fs, T1292fs	Joubert syndrome 9	Pathogenic (Dec 19, 2018)	criteria provided, single submitter
Select item 63456154.	NM_001378615.1(CC2D2A):c.3841T>C (p.Phe1281Leu) GRCh37: Chr4:15581660 GRCh38: Chr4:15580037	CC2D2A	F1281L, F1232L	Joubert syndrome 9	Uncertain significance (Dec 24, 2022)	criteria provided, single submitter
Select item 63444955.	NM_001378615.1(CC2D2A):c.2323G>A (p.Glu775Lys) GRCh37: Chr4:15552588 GRCh38: Chr4:15550965	CC2D2A	E775K, E726K	Meckel syndrome, type 6, COACH syndrome 1, Familial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 9	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59787356.	NM_001378615.1(CC2D2A):c.751G>A (p.Glu251Lys) GRCh37: Chr4:15516363 GRCh38: Chr4:15514740	CC2D2A	E251K, E202K	Joubert syndrome 9, Meckel syndrome, type 6, CC2D2A-related condition, Inborn genetic diseases, Meckel-Gruber syndrome, Familial aplasia of the vermis, not provided	Conflicting interpretations of pathogenicity (Sep 14, 2023)	criteria provided, conflicting interpretations
Select item 59781557.	NM_001378615.1(CC2D2A):c.3176C>A (p.Ala1059Glu) GRCh37: Chr4:15565139 GRCh38: Chr4:15563516	CC2D2A	A1059E, A1010E	Familial aplasia of the vermis, Meckel-Gruber syndrome, not provided, Joubert syndrome 9, Meckel syndrome, type 6	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59572858.	NM_001378615.1(CC2D2A):c.2319C>T (p.Asp773=) GRCh37: Chr4:15552584 GRCh38: Chr4:15550961	CC2D2A		Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6, Joubert syndrome 9, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 59531259.	NM_001378615.1(CC2D2A):c.2560T>G (p.Trp854Gly) GRCh37: Chr4:15556768 GRCh38: Chr4:15555145	CC2D2A	W854G, W805G	Familial aplasia of the vermis, Meckel-Gruber syndrome, not provided, Joubert syndrome 9, COACH syndrome 2, Meckel syndrome, type 6, Retinitis pigmentosa 93	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59343060.	NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs) GRCh37: Chr4:15529217-15529219 GRCh38: Chr4:15527594-15527596	CC2D2A	Q433fs, Q384fs	not provided, Retinitis pigmentosa 93, Joubert syndrome 9, COACH syndrome 2, Meckel syndrome, type 6	Pathogenic/Likely pathogenic (Dec 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 58763161.	NM_001378615.1(CC2D2A):c.3122_3123del (p.Ile1041fs) GRCh37: Chr4:15565084-15565085 GRCh38: Chr4:15563461-15563462	CC2D2A	I1041fs, I992fs	Joubert syndrome 9, Meckel syndrome, type 6, COACH syndrome 1	Likely pathogenic (Aug 7, 2018)	criteria provided, single submitter
Select item 58128362.	NM_001378615.1(CC2D2A):c.3751G>A (p.Gly1251Arg) GRCh37: Chr4:15575929 GRCh38: Chr4:15574306	CC2D2A	G1251R, G1202R	Meckel-Gruber syndrome, Familial aplasia of the vermis, not provided, Retinitis pigmentosa 93, Joubert syndrome 9, COACH syndrome 2, Meckel syndrome, type 6, Inborn genetic diseases	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57968563.	NM_001378615.1(CC2D2A):c.4552C>T (p.Arg1518Trp) GRCh37: Chr4:15601207 GRCh38: Chr4:15599584	CC2D2A	R1518W, R1469W	Meckel-Gruber syndrome, Familial aplasia of the vermis, Joubert syndrome 9	Conflicting interpretations of pathogenicity (Aug 13, 2021)	criteria provided, conflicting interpretations
Select item 54716964.	NM_001378615.1(CC2D2A):c.585_586dup (p.Thr196fs) GRCh37: Chr4:15512913-15512914 GRCh38: Chr4:15511290-15511291	CC2D2A	T196fs, T147fs	Joubert syndrome 9	Likely pathogenic (Mar 16, 2018)	criteria provided, single submitter
Select item 52340165.	NM_001378615.1(CC2D2A):c.1149+1G>A GRCh37: Chr4:15518380 GRCh38: Chr4:15516757	CC2D2A		Polycystic kidney dysplasia, Oligohydramnios, Talipes equinovarus, Microcephaly, Encephalocele, Narrow chest, Polydactyly, postaxial, type A1, Joubert syndrome 9, not provided	Pathogenic/Likely pathogenic (Dec 12, 2020)	criteria provided, multiple submitters, no conflicts
Select item 50642166.	NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu) GRCh37: Chr4:15517532 GRCh38: Chr4:15515909	CC2D2A	F308L, F259L	not provided, Meckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 6, not specified, Joubert syndrome 9	Conflicting interpretations of pathogenicity (Aug 1, 2023)	criteria provided, conflicting interpretations
Select item 50235967.	NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr) GRCh37: Chr4:15591226 GRCh38: Chr4:15589603	CC2D2A	C1413Y, C1364Y	Meckel-Gruber syndrome, Familial aplasia of the vermis, not provided, not specified, Joubert syndrome 9, Meckel syndrome, type 6	Conflicting interpretations of pathogenicity (Oct 12, 2022)	criteria provided, conflicting interpretations
Select item 50111268.	NM_001378615.1(CC2D2A):c.1817A>T (p.Glu606Val) GRCh37: Chr4:15539574 GRCh38: Chr4:15537951	CC2D2A	E606V, E557V	not provided, Retinitis pigmentosa 93, COACH syndrome 2, Meckel syndrome, type 6, Joubert syndrome 9	Uncertain significance (Jul 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 49872769.	NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=) GRCh37: Chr4:15539587 GRCh38: Chr4:15537964	CC2D2A		not provided, not specified, Joubert syndrome 9, Meckel syndrome, type 6, Meckel-Gruber syndrome, Familial aplasia of the vermis	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 49795870.	NM_001378615.1(CC2D2A):c.1946C>T (p.Thr649Met) GRCh37: Chr4:15539703 GRCh38: Chr4:15538080	CC2D2A	T649M, T600M	Familial aplasia of the vermis, Meckel-Gruber syndrome, not provided, Joubert syndrome 9, Meckel syndrome, type 6, COACH syndrome 1, Meckel syndrome, type 6, Joubert syndrome 9	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 49339271.	NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del) GRCh37: Chr4:15562222-15562224 GRCh38: Chr4:15560599-15560601	CC2D2A	E1000del, E951del	Familial aplasia of the vermis, Meckel-Gruber syndrome, Inborn genetic diseases, not provided, Meckel syndrome, type 6, Joubert syndrome 9, Retinitis pigmentosa 93, COACH syndrome 2, Joubert syndrome 9	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43035172.	NM_001378615.1(CC2D2A):c.970C>T (p.Arg324Cys) GRCh37: Chr4:15517580 GRCh38: Chr4:15515957	CC2D2A	R324C, R275C	not provided, Meckel syndrome, type 6, Joubert syndrome 9, Familial aplasia of the vermis, Meckel-Gruber syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42998073.	NM_001378615.1(CC2D2A):c.2624C>T (p.Ser875Leu) GRCh37: Chr4:15556832 GRCh38: Chr4:15555209	CC2D2A	S875L, S826L	not provided, Joubert syndrome 9, Meckel syndrome, type 6, COACH syndrome 1, Meckel-Gruber syndrome, Familial aplasia of the vermis, Joubert syndrome 9, Meckel syndrome, type 6	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42472974.	NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]			Joubert syndrome 9	Likely pathogenic (Dec 17, 2013)	no assertion criteria provided
Select item 42372275.	NM_001378615.1(CC2D2A):c.3883G>A (p.Gly1295Arg) GRCh37: Chr4:15581702 GRCh38: Chr4:15580079	CC2D2A	G1295R, G1246R	not provided, Familial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 9, Meckel syndrome, type 6	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42168376.	NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala) GRCh37: Chr4:15581688 GRCh38: Chr4:15580065	CC2D2A	V1290A, V1241A	Joubert syndrome 9, Meckel syndrome, type 6, COACH syndrome 1, Meckel-Gruber syndrome, Familial aplasia of the vermis, not provided	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 42134777.	NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr) GRCh37: Chr4:15602914 GRCh38: Chr4:15601291	CC2D2A	A1577T, A1528T	Inborn genetic diseases, Familial aplasia of the vermis, Meckel-Gruber syndrome, not provided, Meckel syndrome, type 6, Joubert syndrome 9, Retinitis pigmentosa 93, COACH syndrome 2	Conflicting interpretations of pathogenicity (May 12, 2023)	criteria provided, conflicting interpretations
Select item 42096578.	NM_001378615.1(CC2D2A):c.1484G>A (p.Arg495His) GRCh37: Chr4:15534833 GRCh38: Chr4:15533210	CC2D2A	R495H, R446H	not specified, Familial aplasia of the vermis, Meckel-Gruber syndrome, not provided, Meckel syndrome, type 6, Joubert syndrome 9	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 39296779.	NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln) GRCh37: Chr4:15504488 GRCh38: Chr4:15502865	CC2D2A	R127Q, R78Q	Meckel syndrome, type 6, Joubert syndrome 9, not provided, Familial aplasia of the vermis, Meckel-Gruber syndrome	Conflicting interpretations of pathogenicity (Feb 14, 2023)	criteria provided, conflicting interpretations
Select item 38832180.	NM_001378615.1(CC2D2A):c.3135G>A (p.Val1045=) GRCh37: Chr4:15565098 GRCh38: Chr4:15563475	CC2D2A		not provided, Meckel-Gruber syndrome, Familial aplasia of the vermis, COACH syndrome 1, Joubert syndrome 9, Meckel syndrome, type 6	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 34790881.	NM_001378615.1(CC2D2A):c.*45G>C GRCh37: Chr4:15603093 GRCh38: Chr4:15601470	CC2D2A		Joubert syndrome 9, Meckel syndrome, type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34790782.	NM_001378615.1(CC2D2A):c.4688C>T (p.Pro1563Leu) GRCh37: Chr4:15602873 GRCh38: Chr4:15601250	CC2D2A	P1563L, P1514L	CC2D2A-Related Disorders, Joubert syndrome 9, Meckel syndrome, type 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34790683.	NM_001378615.1(CC2D2A):c.4675-12T>G GRCh37: Chr4:15602848 GRCh38: Chr4:15601225	CC2D2A		Meckel syndrome, type 6, Joubert syndrome 9, Familial aplasia of the vermis, Meckel-Gruber syndrome	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 34790584.	NM_001378615.1(CC2D2A):c.4659G>C (p.Gln1553His) GRCh37: Chr4:15601314 GRCh38: Chr4:15599691	CC2D2A	Q1553H, Q1504H	CC2D2A-Related Disorders, Meckel syndrome, type 6, Joubert syndrome 9, Familial aplasia of the vermis, Meckel-Gruber syndrome, Inborn genetic diseases, not provided	Uncertain significance (May 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 34790485.	NM_001378615.1(CC2D2A):c.4442A>C (p.Glu1481Ala) GRCh37: Chr4:15599034 GRCh38: Chr4:15597411	CC2D2A	E1481A, E1432A	Meckel syndrome, type 6, Inborn genetic diseases, Joubert syndrome 9	Uncertain significance (Apr 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 34790386.	NM_001378615.1(CC2D2A):c.4202C>G (p.Thr1401Ser) GRCh37: Chr4:15591190 GRCh38: Chr4:15589567	CC2D2A	T1401S, T1352S	Meckel syndrome, type 6, Joubert syndrome 9, Familial aplasia of the vermis, Meckel-Gruber syndrome	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 34790287.	NM_001378615.1(CC2D2A):c.4098A>C (p.Glu1366Asp) GRCh37: Chr4:15589471 GRCh38: Chr4:15587848	CC2D2A	E1366D, E1317D	Joubert syndrome 9, Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6	Conflicting interpretations of pathogenicity (Jul 26, 2022)	criteria provided, conflicting interpretations
Select item 34790188.	NM_001378615.1(CC2D2A):c.3670C>T (p.Arg1224Trp) GRCh37: Chr4:15575848 GRCh38: Chr4:15574225	CC2D2A	R1224W, R1175W	Meckel syndrome, type 6, CC2D2A-Related Disorders, Familial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 9, Inborn genetic diseases	Uncertain significance (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34790089.	NM_001378615.1(CC2D2A):c.3524A>G (p.His1175Arg) GRCh37: Chr4:15572049 GRCh38: Chr4:15570426	CC2D2A	H1175R, H1126R	Meckel syndrome, type 6, Joubert syndrome 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34789990.	NM_001378615.1(CC2D2A):c.3499G>A (p.Asp1167Asn) GRCh37: Chr4:15572024 GRCh38: Chr4:15570401	CC2D2A	D1167N, D1118N	Meckel syndrome, type 6, Joubert syndrome 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34789891.	NM_001378615.1(CC2D2A):c.3399-15T>C GRCh37: Chr4:15570901 GRCh38: Chr4:15569278	CC2D2A		Meckel syndrome, type 6, Joubert syndrome 9, CC2D2A-Related Disorders, Familial aplasia of the vermis, Meckel-Gruber syndrome	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 34789792.	NM_001378615.1(CC2D2A):c.3398+13T>C GRCh37: Chr4:15569422 GRCh38: Chr4:15567799	CC2D2A		Meckel syndrome, type 6, Joubert syndrome 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34789693.	NM_001378615.1(CC2D2A):c.3398+7A>G GRCh37: Chr4:15569416 GRCh38: Chr4:15567793	CC2D2A		Meckel syndrome, type 6, Joubert syndrome 9, CC2D2A-Related Disorders, Familial aplasia of the vermis, Meckel-Gruber syndrome	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 34789494.	NM_001378615.1(CC2D2A):c.3200C>T (p.Ser1067Leu) GRCh37: Chr4:15569017 GRCh38: Chr4:15567394	CC2D2A	S1067L, S1018L	Meckel syndrome, type 6, Joubert syndrome 9, CC2D2A-Related Disorders, not provided, Familial aplasia of the vermis, Meckel-Gruber syndrome	Uncertain significance (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34784495.	NM_001378615.1(CC2D2A):c.2844G>A (p.Arg948=) GRCh37: Chr4:15560802 GRCh38: Chr4:15559179	CC2D2A		Meckel-Gruber syndrome, Familial aplasia of the vermis, not provided, Meckel syndrome, type 6, Joubert syndrome 9	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 34784396.	NM_001378615.1(CC2D2A):c.2734A>G (p.Arg912Gly) GRCh37: Chr4:15559035 GRCh38: Chr4:15557412	CC2D2A	R912G, R863G	Joubert syndrome 9, CC2D2A-Related Disorders, Familial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 6	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34784297.	NM_001378615.1(CC2D2A):c.2731T>C (p.Phe911Leu) GRCh37: Chr4:15559032 GRCh38: Chr4:15557409	CC2D2A	F911L, F862L	not provided, Meckel syndrome, type 6, CC2D2A-Related Disorders, Familial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 9	Conflicting interpretations of pathogenicity (Oct 16, 2022)	criteria provided, conflicting interpretations
Select item 34784198.	NM_001378615.1(CC2D2A):c.2597A>G (p.Asn866Ser) GRCh37: Chr4:15556805 GRCh38: Chr4:15555182	CC2D2A	N866S, N817S	Inborn genetic diseases, not provided, CC2D2A-Related Disorders, Meckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 6, Joubert syndrome 9	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34784099.	NM_001378615.1(CC2D2A):c.2526A>G (p.Thr842=) GRCh37: Chr4:15556734 GRCh38: Chr4:15555111	CC2D2A		Meckel syndrome, type 6, Joubert syndrome 9, Familial aplasia of the vermis, Meckel-Gruber syndrome	Conflicting interpretations of pathogenicity (Mar 10, 2022)	criteria provided, conflicting interpretations
Select item 347839100.	NM_001378615.1(CC2D2A):c.2486+9T>C GRCh37: Chr4:15554937 GRCh38: Chr4:15553314	CC2D2A		CC2D2A-Related Disorders, Meckel syndrome, type 6, Joubert syndrome 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

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