ClinVar for MedGen (Select 482396) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24371121.	NM_001044385.3(TMEM237):c.889T>C (p.Ser297Pro) GRCh37: Chr2:202492853 GRCh38: Chr2:201628130	TMEM237	S289P, S297P	Joubert syndrome 14	Uncertain significance (Nov 14, 2019)	criteria provided, single submitter
Select item 24235862.	NC_000002.11:g.(?_202488978)_(202508123_?)dup GRCh37: Chr2:202488978-202508123	TMEM237		Joubert syndrome 14	Uncertain significance (Mar 13, 2021)	criteria provided, single submitter
Select item 24235853.	NC_000002.11:g.(?_202501451)_(202633608_?)del GRCh37: Chr2:202501451-202633608	ALS2, MPP4, TMEM237		Infantile-onset ascending hereditary spastic paralysis, Joubert syndrome 14	Pathogenic (Oct 20, 2022)	criteria provided, single submitter
Select item 24235844.	NC_000002.11:g.(?_202508062)_(202508123_?)del GRCh37: Chr2:202508062-202508123	TMEM237		Joubert syndrome 14	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 24195725.	NM_001044385.3(TMEM237):c.42+18C>T GRCh37: Chr2:202508064 GRCh38: Chr2:201643341	TMEM237		Joubert syndrome 14	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 24165036.	NM_001044385.3(TMEM237):c.284C>A (p.Thr95Asn) GRCh37: Chr2:202498145 GRCh38: Chr2:201633422	TMEM237	T87N, T95N	Joubert syndrome 14	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 24144807.	NM_001044385.3(TMEM237):c.396-4A>G GRCh37: Chr2:202496935 GRCh38: Chr2:201632212	TMEM237		Joubert syndrome 14	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 21944118.	NM_001044385.3(TMEM237):c.91C>T (p.Leu31Phe) GRCh37: Chr2:202503757 GRCh38: Chr2:201639034	TMEM237	L23F, L31F	Joubert syndrome 14, not provided	Uncertain significance (Feb 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21901249.	NM_001044385.3(TMEM237):c.396-15A>G GRCh37: Chr2:202496946 GRCh38: Chr2:201632223	TMEM237		Joubert syndrome 14	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 218966110.	NM_001044385.3(TMEM237):c.34G>A (p.Gly12Ser) GRCh37: Chr2:202508090 GRCh38: Chr2:201643367	LOC129935417, TMEM237	G12S	Joubert syndrome 14	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 218832011.	NM_001044385.3(TMEM237):c.413_420del (p.Glu138fs) GRCh37: Chr2:202496907-202496914 GRCh38: Chr2:201632184-201632191	TMEM237	E130fs, E138fs	Joubert syndrome 14	Pathogenic (Oct 5, 2022)	criteria provided, single submitter
Select item 216362012.	NM_001044385.3(TMEM237):c.1038-13T>C GRCh37: Chr2:202490883 GRCh38: Chr2:201626160	TMEM237		Joubert syndrome 14	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 215929113.	NM_001044385.3(TMEM237):c.326G>A (p.Arg109Gln) GRCh37: Chr2:202498103 GRCh38: Chr2:201633380	TMEM237	R101Q, R109Q	Joubert syndrome 14	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 215911814.	NM_001044385.3(TMEM237):c.804A>G (p.Leu268=) GRCh37: Chr2:202494018 GRCh38: Chr2:201629295	TMEM237		Joubert syndrome 14	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 215548215.	NM_001044385.3(TMEM237):c.301A>G (p.Lys101Glu) GRCh37: Chr2:202498128 GRCh38: Chr2:201633405	TMEM237	K101E, K93E	Joubert syndrome 14, Inborn genetic diseases	Uncertain significance (Apr 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 215192916.	NM_001044385.3(TMEM237):c.274+18G>C GRCh37: Chr2:202501453 GRCh38: Chr2:201636730	TMEM237		Joubert syndrome 14	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 215103017.	NM_001044385.3(TMEM237):c.136+20T>C GRCh37: Chr2:202503692 GRCh38: Chr2:201638969	TMEM237		Joubert syndrome 14	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 214744118.	NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter) GRCh37: Chr2:202494097 GRCh38: Chr2:201629374	TMEM237	W234, W242	Joubert syndrome 14, Joubert syndrome and related disorders	Pathogenic/Likely pathogenic (Feb 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214656519.	NM_001044385.3(TMEM237):c.1141G>A (p.Gly381Ser) GRCh37: Chr2:202490767 GRCh38: Chr2:201626044	TMEM237	G381S, G373S	Joubert syndrome 14	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 213992120.	NM_001044385.3(TMEM237):c.292A>G (p.Thr98Ala) GRCh37: Chr2:202498137 GRCh38: Chr2:201633414	TMEM237	T90A, T98A	Joubert syndrome 14	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 213943521.	NM_001044385.3(TMEM237):c.1159+15A>C GRCh37: Chr2:202490734 GRCh38: Chr2:201626011	TMEM237		Joubert syndrome 14	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 213262122.	NM_001044385.3(TMEM237):c.850A>G (p.Thr284Ala) GRCh37: Chr2:202493972 GRCh38: Chr2:201629249	TMEM237	T276A, T284A	Joubert syndrome 14	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 212512823.	NM_001044385.3(TMEM237):c.79+5G>C GRCh37: Chr2:202504979 GRCh38: Chr2:201640256	TMEM237		Joubert syndrome 14	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 212062524.	NM_001044385.3(TMEM237):c.694dup (p.Ser232fs) GRCh37: Chr2:202494127-202494128 GRCh38: Chr2:201629404-201629405	TMEM237	S232fs, S224fs	Joubert syndrome 14	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 212021325.	NM_001044385.3(TMEM237):c.128dup (p.Asn43fs) GRCh37: Chr2:202503719-202503720 GRCh38: Chr2:201638996-201638997	TMEM237	N35fs, N43fs	Joubert syndrome 14	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 211963426.	NM_001044385.3(TMEM237):c.378A>G (p.Lys126=) GRCh37: Chr2:202498051 GRCh38: Chr2:201633328	TMEM237		Joubert syndrome 14	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 211805527.	NM_001044385.3(TMEM237):c.42+7G>T GRCh37: Chr2:202508075 GRCh38: Chr2:201643352	TMEM237		Joubert syndrome 14	Likely benign (Aug 2, 2022)	criteria provided, single submitter
Select item 211604528.	NM_001044385.3(TMEM237):c.1027G>A (p.Gly343Ser) GRCh37: Chr2:202492054 GRCh38: Chr2:201627331	TMEM237	G343S, G335S	Joubert syndrome 14	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 211308929.	NM_001044385.3(TMEM237):c.131C>T (p.Thr44Ile) GRCh37: Chr2:202503717 GRCh38: Chr2:201638994	TMEM237	T36I, T44I	Joubert syndrome 14	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 211128430.	NM_001044385.3(TMEM237):c.870-4C>G GRCh37: Chr2:202492876 GRCh38: Chr2:201628153	TMEM237		Joubert syndrome 14	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 211112531.	NM_001044385.3(TMEM237):c.319T>G (p.Leu107Val) GRCh37: Chr2:202498110 GRCh38: Chr2:201633387	TMEM237	L107V, L99V	Joubert syndrome 14	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 210980032.	NM_001044385.3(TMEM237):c.678-15C>A GRCh37: Chr2:202494159 GRCh38: Chr2:201629436	TMEM237		Joubert syndrome 14	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 210712733.	NM_001044385.3(TMEM237):c.510T>G (p.Thr170=) GRCh37: Chr2:202496817 GRCh38: Chr2:201632094	TMEM237		Joubert syndrome 14	Likely benign (Mar 5, 2022)	criteria provided, single submitter
Select item 210203834.	NM_001044385.3(TMEM237):c.137-14_137-13del GRCh37: Chr2:202501621-202501622 GRCh38: Chr2:201636898-201636899	TMEM237		Joubert syndrome 14	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 209738535.	NM_001044385.3(TMEM237):c.869+15T>C GRCh37: Chr2:202493938 GRCh38: Chr2:201629215	TMEM237		Joubert syndrome 14	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 209281936.	NM_001044385.3(TMEM237):c.75-19G>A GRCh37: Chr2:202505007 GRCh38: Chr2:201640284	TMEM237		Joubert syndrome 14	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 209164337.	NM_001044385.3(TMEM237):c.300G>T (p.Lys100Asn) GRCh37: Chr2:202498129 GRCh38: Chr2:201633406	TMEM237	K100N, K92N	Joubert syndrome 14	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 207887738.	NM_001044385.3(TMEM237):c.860C>A (p.Ala287Asp) GRCh37: Chr2:202493962 GRCh38: Chr2:201629239	TMEM237	A279D, A287D	Joubert syndrome 14	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 207710939.	NM_001044385.3(TMEM237):c.1015TCT[1] (p.Ser340del) GRCh37: Chr2:202492061-202492063 GRCh38: Chr2:201627338-201627340	TMEM237	S332del, S340del	Joubert syndrome 14	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 207560340.	NM_001044385.3(TMEM237):c.75-5G>A GRCh37: Chr2:202504993 GRCh38: Chr2:201640270	TMEM237		Joubert syndrome 14	Likely benign (Jul 16, 2022)	criteria provided, single submitter
Select item 206812241.	NM_001044385.3(TMEM237):c.137-17A>G GRCh37: Chr2:202501625 GRCh38: Chr2:201636902	TMEM237		Joubert syndrome 14	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 205156742.	NM_001044385.3(TMEM237):c.44G>A (p.Arg15His) GRCh37: Chr2:202505646 GRCh38: Chr2:201640923	TMEM237	R15H, R7H	Inborn genetic diseases, Joubert syndrome 14	Uncertain significance (Nov 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205126143.	NM_001044385.3(TMEM237):c.557G>T (p.Arg186Ile) GRCh37: Chr2:202494572 GRCh38: Chr2:201629849	TMEM237	R178I, R186I	Joubert syndrome 14	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 205026944.	NM_001044385.3(TMEM237):c.1114T>C (p.Ser372Pro) GRCh37: Chr2:202490794 GRCh38: Chr2:201626071	TMEM237	S364P, S372P	Joubert syndrome 14	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 204492445.	NM_001044385.3(TMEM237):c.1159+17dup GRCh37: Chr2:202490731-202490732 GRCh38: Chr2:201626008-201626009	TMEM237		Joubert syndrome 14	Benign (Aug 16, 2022)	criteria provided, single submitter
Select item 204308146.	NM_001044385.3(TMEM237):c.205A>G (p.Thr69Ala) GRCh37: Chr2:202501540 GRCh38: Chr2:201636817	TMEM237	T61A, T69A	Joubert syndrome 14	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 204150247.	NM_001044385.3(TMEM237):c.267A>G (p.Leu89=) GRCh37: Chr2:202501478 GRCh38: Chr2:201636755	TMEM237		Joubert syndrome 14	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 203593448.	NM_001044385.3(TMEM237):c.869+11T>C GRCh37: Chr2:202493942 GRCh38: Chr2:201629219	TMEM237		Joubert syndrome 14	Likely benign (Dec 7, 2021)	criteria provided, single submitter
Select item 202248249.	NM_001044385.3(TMEM237):c.42+6C>T GRCh37: Chr2:202508076 GRCh38: Chr2:201643353	TMEM237		Joubert syndrome 14	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 202128050.	NM_001044385.3(TMEM237):c.396-2A>G GRCh37: Chr2:202496933 GRCh38: Chr2:201632210	TMEM237		Joubert syndrome 14	Likely pathogenic (Aug 28, 2022)	criteria provided, single submitter
Select item 201031551.	NM_001044385.3(TMEM237):c.678-6A>G GRCh37: Chr2:202494150 GRCh38: Chr2:201629427	TMEM237		Joubert syndrome 14	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 201006552.	NM_001044385.3(TMEM237):c.155G>T (p.Gly52Val) GRCh37: Chr2:202501590 GRCh38: Chr2:201636867	TMEM237	G44V, G52V	Joubert syndrome 14	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 200445453.	NM_001044385.3(TMEM237):c.869+8C>G GRCh37: Chr2:202493945 GRCh38: Chr2:201629222	TMEM237		Joubert syndrome 14	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 199790554.	NM_001044385.3(TMEM237):c.970C>G (p.Leu324Val) GRCh37: Chr2:202492111 GRCh38: Chr2:201627388	TMEM237	L316V, L324V	Joubert syndrome 14	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 199119255.	NM_001044385.3(TMEM237):c.74+12_74+14del GRCh37: Chr2:202505602-202505604 GRCh38: Chr2:201640879-201640881	TMEM237		Joubert syndrome 14	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 198664256.	NM_001044385.3(TMEM237):c.43C>T (p.Arg15Cys) GRCh37: Chr2:202505647 GRCh38: Chr2:201640924	TMEM237	R7C, R15C	Joubert syndrome 14	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 197659757.	NM_001044385.3(TMEM237):c.677+18A>G GRCh37: Chr2:202494434 GRCh38: Chr2:201629711	TMEM237		Joubert syndrome 14	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 197034558.	NM_001044385.3(TMEM237):c.59T>G (p.Leu20Arg) GRCh37: Chr2:202505631 GRCh38: Chr2:201640908	TMEM237	L12R, L20R	Joubert syndrome 14	Uncertain significance (Mar 2, 2022)	criteria provided, single submitter
Select item 196972659.	NM_001044385.3(TMEM237):c.1220C>T (p.Ser407Phe) GRCh37: Chr2:202488985 GRCh38: Chr2:201624262	TMEM237	S407F, S399F	Joubert syndrome 14	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 194835660.	NM_001044385.3(TMEM237):c.1217C>A (p.Ala406Asp) GRCh37: Chr2:202488988 GRCh38: Chr2:201624265	TMEM237	A398D, A406D	Joubert syndrome 14, Inborn genetic diseases	Uncertain significance (Jun 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 193072161.	NM_001044385.3(TMEM237):c.346G>A (p.Ala116Thr) GRCh37: Chr2:202498083 GRCh38: Chr2:201633360	TMEM237	A116T, A108T	Joubert syndrome 14	Uncertain significance (Jan 7, 2022)	criteria provided, single submitter
Select item 191805462.	NM_001044385.3(TMEM237):c.683T>C (p.Ile228Thr) GRCh37: Chr2:202494139 GRCh38: Chr2:201629416	TMEM237	I228T, I220T	Joubert syndrome 14	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 191683763.	NM_001044385.3(TMEM237):c.1078G>A (p.Val360Met) GRCh37: Chr2:202490830 GRCh38: Chr2:201626107	TMEM237	V360M, V352M	Joubert syndrome 14	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 190601064.	NM_001044385.3(TMEM237):c.1051G>A (p.Glu351Lys) GRCh37: Chr2:202490857 GRCh38: Chr2:201626134	TMEM237	E343K, E351K	Joubert syndrome 14	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 190431165.	NM_001044385.3(TMEM237):c.1110A>C (p.Gly370=) GRCh37: Chr2:202490798 GRCh38: Chr2:201626075	TMEM237		Joubert syndrome 14	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 189639066.	NM_001044385.3(TMEM237):c.795C>T (p.Tyr265=) GRCh37: Chr2:202494027 GRCh38: Chr2:201629304	TMEM237		Joubert syndrome 14	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 167272767.	NM_001044385.3(TMEM237):c.69G>T (p.Val23=) GRCh37: Chr2:202505621 GRCh38: Chr2:201640898	TMEM237		Joubert syndrome 14	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 163597568.	NM_001044385.3(TMEM237):c.1159+20G>A GRCh37: Chr2:202490729 GRCh38: Chr2:201626006	TMEM237		Joubert syndrome 14	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 161966969.	NM_001044385.3(TMEM237):c.75-7G>A GRCh37: Chr2:202504995 GRCh38: Chr2:201640272	TMEM237		Joubert syndrome 14	Likely benign (Jun 22, 2021)	criteria provided, single submitter
Select item 161956670.	NM_001044385.3(TMEM237):c.204A>G (p.Ser68=) GRCh37: Chr2:202501541 GRCh38: Chr2:201636818	TMEM237		Joubert syndrome 14	Likely benign (Nov 28, 2021)	criteria provided, single submitter
Select item 161930871.	NM_001044385.3(TMEM237):c.869+16C>T GRCh37: Chr2:202493937 GRCh38: Chr2:201629214	TMEM237		Joubert syndrome 14	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 161703672.	NM_001044385.3(TMEM237):c.43-6C>T GRCh37: Chr2:202505653 GRCh38: Chr2:201640930	TMEM237		Joubert syndrome 14	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 160605873.	NM_001044385.3(TMEM237):c.813A>G (p.Pro271=) GRCh37: Chr2:202494009 GRCh38: Chr2:201629286	TMEM237		Joubert syndrome 14	Likely benign (Sep 20, 2021)	criteria provided, single submitter
Select item 160211874.	NM_001044385.3(TMEM237):c.879T>C (p.Phe293=) GRCh37: Chr2:202492863 GRCh38: Chr2:201628140	TMEM237		Joubert syndrome 14	Likely benign (Aug 31, 2021)	criteria provided, single submitter
Select item 159953075.	NM_001044385.3(TMEM237):c.1159+17del GRCh37: Chr2:202490732 GRCh38: Chr2:201626009	TMEM237		Joubert syndrome 14	Benign (Aug 10, 2022)	criteria provided, single submitter
Select item 159703776.	NM_001044385.3(TMEM237):c.554-3dup GRCh37: Chr2:202494577-202494578 GRCh38: Chr2:201629854-201629855	TMEM237		Joubert syndrome 14	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 159641277.	NM_001044385.3(TMEM237):c.678-20_678-17del GRCh37: Chr2:202494161-202494164 GRCh38: Chr2:201629438-201629441	TMEM237		Joubert syndrome 14	Benign (Oct 17, 2022)	criteria provided, single submitter
Select item 159067078.	NM_001044385.3(TMEM237):c.137-19C>G GRCh37: Chr2:202501627 GRCh38: Chr2:201636904	TMEM237		Joubert syndrome 14	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 158469379.	NM_001044385.3(TMEM237):c.944-16T>C GRCh37: Chr2:202492153 GRCh38: Chr2:201627430	TMEM237		Joubert syndrome 14	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 158217280.	NM_001044385.3(TMEM237):c.43-8C>T GRCh37: Chr2:202505655 GRCh38: Chr2:201640932	TMEM237		Joubert syndrome 14	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 157845981.	NM_001044385.3(TMEM237):c.42+16C>G GRCh37: Chr2:202508066 GRCh38: Chr2:201643343	TMEM237		Joubert syndrome 14	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 157518582.	NM_001044385.3(TMEM237):c.136+17T>C GRCh37: Chr2:202503695 GRCh38: Chr2:201638972	TMEM237		Joubert syndrome 14	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 156085583.	NM_001044385.3(TMEM237):c.136+19T>C GRCh37: Chr2:202503693 GRCh38: Chr2:201638970	TMEM237		Joubert syndrome 14	Likely benign (May 20, 2021)	criteria provided, single submitter
Select item 155897984.	NM_001044385.3(TMEM237):c.79+20A>T GRCh37: Chr2:202504964 GRCh38: Chr2:201640241	TMEM237		Joubert syndrome 14	Likely benign (Jun 5, 2022)	criteria provided, single submitter
Select item 154967385.	NM_001044385.3(TMEM237):c.417A>G (p.Leu139=) GRCh37: Chr2:202496910 GRCh38: Chr2:201632187	TMEM237		Joubert syndrome 14	Likely benign (Apr 10, 2021)	criteria provided, single submitter
Select item 153683186.	NM_001044385.3(TMEM237):c.137-14C>G GRCh37: Chr2:202501622 GRCh38: Chr2:201636899	TMEM237		Joubert syndrome 14	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 153465587.	NM_001044385.3(TMEM237):c.174T>G (p.Gly58=) GRCh37: Chr2:202501571 GRCh38: Chr2:201636848	TMEM237		Joubert syndrome 14	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 153442088.	NM_001044385.3(TMEM237):c.80-20C>T GRCh37: Chr2:202503788 GRCh38: Chr2:201639065	TMEM237		Joubert syndrome 14	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 153409389.	NM_001044385.3(TMEM237):c.79+15T>C GRCh37: Chr2:202504969 GRCh38: Chr2:201640246	TMEM237		Joubert syndrome 14	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 153033390.	NM_001044385.3(TMEM237):c.402C>T (p.Thr134=) GRCh37: Chr2:202496925 GRCh38: Chr2:201632202	TMEM237		Joubert syndrome 14	Likely benign (May 11, 2021)	criteria provided, single submitter
Select item 151737891.	NM_001044385.3(TMEM237):c.1203_1208del (p.400KE[1]) GRCh37: Chr2:202488997-202489002 GRCh38: Chr2:201624274-201624279	TMEM237		Joubert syndrome 14	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 151508092.	NM_001044385.3(TMEM237):c.478G>A (p.Val160Met) GRCh37: Chr2:202496849 GRCh38: Chr2:201632126	TMEM237	V160M, V152M	Joubert syndrome 14	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 151107293.	NM_001044385.3(TMEM237):c.65C>T (p.Pro22Leu) GRCh37: Chr2:202505625 GRCh38: Chr2:201640902	TMEM237	P14L, P22L	Joubert syndrome 14	Uncertain significance (Nov 2, 2021)	criteria provided, single submitter
Select item 150487594.	NM_001044385.3(TMEM237):c.469C>A (p.Gln157Lys) GRCh37: Chr2:202496858 GRCh38: Chr2:201632135	TMEM237	Q149K, Q157K	Inborn genetic diseases, Joubert syndrome 14	Uncertain significance (May 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 149923495.	NM_001044385.3(TMEM237):c.767C>G (p.Ser256Cys) GRCh37: Chr2:202494055 GRCh38: Chr2:201629332	TMEM237	S256C, S248C	Joubert syndrome 14	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 149866896.	NM_001044385.3(TMEM237):c.541G>A (p.Val181Met) GRCh37: Chr2:202496786 GRCh38: Chr2:201632063	TMEM237	V181M, V173M	Joubert syndrome 14, Inborn genetic diseases	Uncertain significance (Apr 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 149250297.	NM_001044385.3(TMEM237):c.851C>T (p.Thr284Ile) GRCh37: Chr2:202493971 GRCh38: Chr2:201629248	TMEM237	T284I, T276I	Joubert syndrome 14	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 149105498.	NM_001044385.3(TMEM237):c.676A>G (p.Arg226Gly) GRCh37: Chr2:202494453 GRCh38: Chr2:201629730	TMEM237	R226G, R218G	Joubert syndrome 14	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 148990299.	NM_001044385.3(TMEM237):c.870-8T>G GRCh37: Chr2:202492880 GRCh38: Chr2:201628157	TMEM237		Joubert syndrome 14	Uncertain significance (Oct 27, 2021)	criteria provided, single submitter
Select item 1489675100.	NM_001044385.3(TMEM237):c.424G>A (p.Ala142Thr) GRCh37: Chr2:202496903 GRCh38: Chr2:201632180	TMEM237	A134T, A142T	Joubert syndrome 14	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter

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