ClinVar for MedGen (Select 766672) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24279691.	NM_015631.6(TCTN3):c.907C>T (p.Leu303Phe) GRCh37: Chr10:97445375 GRCh38: Chr10:95685618	TCTN3	L303F, L321F	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 24262022.	NC_000010.10:g.(?_97442388)_(97516032_?)dup GRCh37: Chr10:97442388-97516032	ENTPD1, TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 24212203.	NM_015631.6(TCTN3):c.1299-4A>G GRCh37: Chr10:97442565 GRCh38: Chr10:95682808	TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 24175684.	NM_015631.6(TCTN3):c.1758C>T (p.Cys586=) GRCh37: Chr10:97423890 GRCh38: Chr10:95664133	TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 24166595.	NM_015631.6(TCTN3):c.1224_1226del (p.Gln408_Gly409delinsHis) GRCh37: Chr10:97442930-97442932 GRCh38: Chr10:95683173-95683175	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 24138546.	NM_015631.6(TCTN3):c.737_738insC (p.Leu248fs) GRCh37: Chr10:97446915-97446916 GRCh38: Chr10:95687158-95687159	TCTN3	L169fs, L248fs	Orofacial-digital syndrome IV, Joubert syndrome 18	Pathogenic (Sep 18, 2022)	criteria provided, single submitter
Select item 22011667.	NM_015631.6(TCTN3):c.776dup (p.Lys260fs) GRCh37: Chr10:97446876-97446877 GRCh38: Chr10:95687119-95687120	TCTN3	K181fs, K260fs	Joubert syndrome 18, Orofacial-digital syndrome IV	Pathogenic (May 21, 2022)	criteria provided, single submitter
Select item 21994418.	NM_015631.6(TCTN3):c.56G>A (p.Gly19Asp) GRCh37: Chr10:97453601 GRCh38: Chr10:95693844	LOC130004408, TCTN3	G19D, G37D	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 21990489.	NM_015631.6(TCTN3):c.1068dup (p.Gln357fs) GRCh37: Chr10:97444282-97444283 GRCh38: Chr10:95684525-95684526	TCTN3	Q357fs	Orofacial-digital syndrome IV, Joubert syndrome 18	Pathogenic (Aug 25, 2022)	criteria provided, single submitter
Select item 219654610.	NM_015631.6(TCTN3):c.48C>A (p.Phe16Leu) GRCh37: Chr10:97453609 GRCh38: Chr10:95693852	LOC130004408, TCTN3	F34L, F16L	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 219614611.	NM_015631.6(TCTN3):c.380+16C>T GRCh37: Chr10:97453094 GRCh38: Chr10:95693337	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Jan 2, 2022)	criteria provided, single submitter
Select item 219614512.	NM_015631.6(TCTN3):c.78C>T (p.Ser26=) GRCh37: Chr10:97453579 GRCh38: Chr10:95693822	LOC130004408, TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 219411813.	NM_015631.6(TCTN3):c.994G>A (p.Gly332Arg) GRCh37: Chr10:97444357 GRCh38: Chr10:95684600	TCTN3	G305R, G332R, G350R	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 219373914.	NM_015631.6(TCTN3):c.1164dup (p.Lys389fs) GRCh37: Chr10:97443317-97443318 GRCh38: Chr10:95683560-95683561	TCTN3	K241fs, K389fs	Orofacial-digital syndrome IV, Joubert syndrome 18	Pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 219225215.	NM_015631.6(TCTN3):c.367C>A (p.Pro123Thr) GRCh37: Chr10:97453123 GRCh38: Chr10:95693366	TCTN3	P123T, P141T	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 219180616.	NM_015631.6(TCTN3):c.1008C>A (p.Ile336=) GRCh37: Chr10:97444343 GRCh38: Chr10:95684586	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 218761717.	NM_015631.6(TCTN3):c.107T>C (p.Leu36Ser) GRCh37: Chr10:97453550 GRCh38: Chr10:95693793	LOC130004408, TCTN3	L36S, L54S	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Sep 21, 2022)	criteria provided, single submitter
Select item 218697718.	NM_015631.6(TCTN3):c.1580A>G (p.Gln527Arg) GRCh37: Chr10:97440239 GRCh38: Chr10:95680482	TCTN3	Q495R, Q379R, Q527R, Q545R	Inborn genetic diseases, Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (May 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 218368219.	NM_015631.6(TCTN3):c.1029G>A (p.Leu343=) GRCh37: Chr10:97444322 GRCh38: Chr10:95684565	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 217696420.	NM_015631.6(TCTN3):c.393G>C (p.Trp131Cys) GRCh37: Chr10:97452783 GRCh38: Chr10:95693026	TCTN3	W131C, W149C	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 217441121.	NM_015631.6(TCTN3):c.1596T>C (p.Ser532=) GRCh37: Chr10:97424052 GRCh38: Chr10:95664295	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 217211222.	NM_015631.6(TCTN3):c.1381A>G (p.Ile461Val) GRCh37: Chr10:97442479 GRCh38: Chr10:95682722	TCTN3	I479V, I429V, I461V, I313V	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 216970223.	NM_015631.6(TCTN3):c.1160T>G (p.Val387Gly) GRCh37: Chr10:97443322 GRCh38: Chr10:95683565	TCTN3	V239G, V405G, V360G, V387G	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 216321124.	NM_015631.6(TCTN3):c.1467T>C (p.Thr489=) GRCh37: Chr10:97440352 GRCh38: Chr10:95680595	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 216306325.	NM_015631.6(TCTN3):c.1361C>G (p.Pro454Arg) GRCh37: Chr10:97442499 GRCh38: Chr10:95682742	TCTN3	P306R, P454R, P472R, P422R	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 215855526.	NM_015631.6(TCTN3):c.570T>G (p.Phe190Leu) GRCh37: Chr10:97447406 GRCh38: Chr10:95687649	TCTN3	F208L, F190L	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 215211127.	NM_015631.6(TCTN3):c.628-10T>C GRCh37: Chr10:97447122 GRCh38: Chr10:95687365	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 215152328.	NM_015631.6(TCTN3):c.1704C>T (p.Phe568=) GRCh37: Chr10:97423944 GRCh38: Chr10:95664187	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 214956729.	NM_015631.6(TCTN3):c.755G>A (p.Ser252Asn) GRCh37: Chr10:97446898 GRCh38: Chr10:95687141	TCTN3	S252N, S270N, S173N	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 214781630.	NM_015631.6(TCTN3):c.1139G>C (p.Ser380Thr) GRCh37: Chr10:97443343 GRCh38: Chr10:95683586	TCTN3	S380T, S398T, S232T, S353T	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 214747031.	NM_015631.6(TCTN3):c.25C>T (p.Leu9=) GRCh37: Chr10:97453632 GRCh38: Chr10:95693875	LOC130004408, TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 214510732.	NM_015631.6(TCTN3):c.1688A>C (p.Asp563Ala) GRCh37: Chr10:97423960 GRCh38: Chr10:95664203	TCTN3	D415A, D581A, D531A, D563A	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 214417733.	NM_015631.6(TCTN3):c.21G>C (p.Ala7=) GRCh37: Chr10:97453636 GRCh38: Chr10:95693879	LOC130004408, TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Likely benign (Dec 18, 2021)	criteria provided, single submitter
Select item 214334634.	NM_015631.6(TCTN3):c.888+3A>T GRCh37: Chr10:97446249 GRCh38: Chr10:95686492	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 214225735.	NM_015631.6(TCTN3):c.1562G>A (p.Arg521Gln) GRCh37: Chr10:97440257 GRCh38: Chr10:95680500	TCTN3	R539Q, R373Q, R521Q, R489Q	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 214207636.	NM_015631.6(TCTN3):c.1755A>T (p.Lys585Asn) GRCh37: Chr10:97423893 GRCh38: Chr10:95664136	TCTN3	K437N, K585N, K603N, K553N	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 214189937.	NM_015631.6(TCTN3):c.1438C>T (p.His480Tyr) GRCh37: Chr10:97442422 GRCh38: Chr10:95682665	TCTN3	H332Y, H480Y, H448Y, H498Y	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 213954938.	NM_015631.6(TCTN3):c.1762G>A (p.Val588Ile) GRCh37: Chr10:97423886 GRCh38: Chr10:95664129	TCTN3	V588I, V556I, V440I, V606I	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 213667539.	NM_015631.6(TCTN3):c.1203A>G (p.Ser401=) GRCh37: Chr10:97443279 GRCh38: Chr10:95683522	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 213446240.	NM_015631.6(TCTN3):c.1353T>C (p.His451=) GRCh37: Chr10:97442507 GRCh38: Chr10:95682750	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 213423341.	NM_015631.6(TCTN3):c.670A>G (p.Ile224Val) GRCh37: Chr10:97447070 GRCh38: Chr10:95687313	TCTN3	I242V, I224V	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 213415842.	NM_015631.6(TCTN3):c.256G>T (p.Val86Phe) GRCh37: Chr10:97453401 GRCh38: Chr10:95693644	LOC130004408, TCTN3	V104F, V86F	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 213312943.	NM_015631.6(TCTN3):c.1365A>G (p.Arg455=) GRCh37: Chr10:97442495 GRCh38: Chr10:95682738	TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 212981044.	NM_015631.6(TCTN3):c.412_413del (p.Val138fs) GRCh37: Chr10:97452763-97452764 GRCh38: Chr10:95693006-95693007	TCTN3	V138fs	Joubert syndrome 18, Orofacial-digital syndrome IV	Pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 212893845.	NM_015631.6(TCTN3):c.201C>T (p.Val67=) GRCh37: Chr10:97453456 GRCh38: Chr10:95693699	LOC130004408, TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 212674046.	NM_015631.6(TCTN3):c.1591-7C>G GRCh37: Chr10:97424064 GRCh38: Chr10:95664307	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 212356747.	NM_015631.6(TCTN3):c.92C>A (p.Ala31Glu) GRCh37: Chr10:97453565 GRCh38: Chr10:95693808	LOC130004408, TCTN3	A31E, A49E	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 212336148.	NM_015631.6(TCTN3):c.444A>G (p.Ser148=) GRCh37: Chr10:97452732 GRCh38: Chr10:95692975	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 212044049.	NM_015631.6(TCTN3):c.1206dup (p.Thr403fs) GRCh37: Chr10:97442949-97442950 GRCh38: Chr10:95683192-95683193	TCTN3	T403fs, T255fs	Orofacial-digital syndrome IV, Joubert syndrome 18	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 212043750.	NM_015631.6(TCTN3):c.995G>C (p.Gly332Ala) GRCh37: Chr10:97444356 GRCh38: Chr10:95684599	TCTN3	G305A, G332A, G350A	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 211849351.	NM_015631.6(TCTN3):c.191C>T (p.Pro64Leu) GRCh37: Chr10:97453466 GRCh38: Chr10:95693709	LOC130004408, TCTN3	P82L, P64L	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 211569052.	NM_015631.6(TCTN3):c.101C>A (p.Thr34Lys) GRCh37: Chr10:97453556 GRCh38: Chr10:95693799	LOC130004408, TCTN3	T34K, T52K	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 211080253.	NM_015631.6(TCTN3):c.61C>T (p.Arg21Trp) GRCh37: Chr10:97453596 GRCh38: Chr10:95693839	LOC130004408, TCTN3	R39W, R21W	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 210819054.	NM_015631.6(TCTN3):c.793dup (p.Ser265fs) GRCh37: Chr10:97446859-97446860 GRCh38: Chr10:95687102-95687103	TCTN3	S265fs, S186fs	Orofacial-digital syndrome IV, Joubert syndrome 18	Pathogenic (Mar 10, 2022)	criteria provided, single submitter
Select item 210606855.	NM_015631.6(TCTN3):c.934T>C (p.Leu312=) GRCh37: Chr10:97445348 GRCh38: Chr10:95685591	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 210586156.	NM_015631.6(TCTN3):c.1096-17C>G GRCh37: Chr10:97443403 GRCh38: Chr10:95683646	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 210534357.	NM_015631.6(TCTN3):c.261A>G (p.Leu87=) GRCh37: Chr10:97453229 GRCh38: Chr10:95693472	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 210484658.	NM_015631.6(TCTN3):c.1707CTT[1] (p.Phe571del) GRCh37: Chr10:97423936-97423938 GRCh38: Chr10:95664179-95664181	TCTN3	F539del, F571del, F589del, F423del	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 210158559.	NM_015631.6(TCTN3):c.736+18G>A GRCh37: Chr10:97446986 GRCh38: Chr10:95687229	TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 209673060.	NM_015631.6(TCTN3):c.137C>T (p.Thr46Ile) GRCh37: Chr10:97453520 GRCh38: Chr10:95693763	LOC130004408, TCTN3	T64I, T46I	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 209339061.	NM_015631.6(TCTN3):c.965C>G (p.Ser322Cys) GRCh37: Chr10:97445317 GRCh38: Chr10:95685560	TCTN3	S340C, S322C	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 209078462.	NM_015631.6(TCTN3):c.1213T>A (p.Leu405Ile) GRCh37: Chr10:97442943 GRCh38: Chr10:95683186	TCTN3	L257I, L405I, L423I	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 209013663.	NM_015631.6(TCTN3):c.476A>G (p.Gln159Arg) GRCh37: Chr10:97452700 GRCh38: Chr10:95692943	TCTN3	Q177R, Q159R	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 208655264.	NM_015631.6(TCTN3):c.920_941del (p.Ala307fs) GRCh37: Chr10:97445341-97445362 GRCh38: Chr10:95685584-95685605	TCTN3	A307fs	Orofacial-digital syndrome IV, Joubert syndrome 18	Pathogenic (Jul 12, 2022)	criteria provided, single submitter
Select item 208638765.	NM_015631.6(TCTN3):c.536A>G (p.Asn179Ser) GRCh37: Chr10:97447440 GRCh38: Chr10:95687683	TCTN3	N179S, N197S	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 208601466.	NM_015631.6(TCTN3):c.1059C>A (p.Gly353=) GRCh37: Chr10:97444292 GRCh38: Chr10:95684535	TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 208346267.	NM_015631.6(TCTN3):c.1608A>G (p.Thr536=) GRCh37: Chr10:97424040 GRCh38: Chr10:95664283	TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 208217368.	NM_015631.6(TCTN3):c.510C>G (p.Asn170Lys) GRCh37: Chr10:97447466 GRCh38: Chr10:95687709	TCTN3	N170K, N188K	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 208187169.	NM_015631.6(TCTN3):c.1469C>T (p.Ser490Phe) GRCh37: Chr10:97440350 GRCh38: Chr10:95680593	TCTN3	S490F, S342F, S508F, S458F	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 208173270.	NM_015631.6(TCTN3):c.1669A>G (p.Arg557Gly) GRCh37: Chr10:97423979 GRCh38: Chr10:95664222	TCTN3	R525G, R557G, R575G, R409G	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 207933971.	NM_015631.6(TCTN3):c.500-14A>T GRCh37: Chr10:97447490 GRCh38: Chr10:95687733	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 207796672.	NM_015631.6(TCTN3):c.412G>A (p.Val138Ile) GRCh37: Chr10:97452764 GRCh38: Chr10:95693007	TCTN3	V138I, V156I	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 207589973.	NM_015631.6(TCTN3):c.1576T>C (p.Cys526Arg) GRCh37: Chr10:97440243 GRCh38: Chr10:95680486	TCTN3	C378R, C526R, C494R, C544R	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 207441474.	NM_015631.6(TCTN3):c.958G>T (p.Val320Leu) GRCh37: Chr10:97445324 GRCh38: Chr10:95685567	TCTN3	V338L, V320L	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 207264675.	NM_015631.6(TCTN3):c.627+6C>G GRCh37: Chr10:97447343 GRCh38: Chr10:95687586	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 207201576.	NM_015631.6(TCTN3):c.1575G>T (p.Gln525His) GRCh37: Chr10:97440244 GRCh38: Chr10:95680487	TCTN3	Q493H, Q377H, Q525H, Q543H	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 207143277.	NM_015631.6(TCTN3):c.593C>T (p.Thr198Ile) GRCh37: Chr10:97447383 GRCh38: Chr10:95687626	TCTN3	T198I, T216I	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 206412278.	NM_015631.6(TCTN3):c.1774C>T (p.Leu592Phe) GRCh37: Chr10:97423874 GRCh38: Chr10:95664117	TCTN3	L610F, L444F, L560F, L592F	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 206397879.	NM_015631.6(TCTN3):c.257-13C>G GRCh37: Chr10:97453246 GRCh38: Chr10:95693489	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 206318280.	NM_015631.6(TCTN3):c.867G>A (p.Met289Ile) GRCh37: Chr10:97446273 GRCh38: Chr10:95686516	TCTN3	M210I, M289I, M307I	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 205759981.	NM_015631.6(TCTN3):c.489T>C (p.His163=) GRCh37: Chr10:97452687 GRCh38: Chr10:95692930	TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 205655282.	NM_015631.6(TCTN3):c.1779C>A (p.Ile593=) GRCh37: Chr10:97423869 GRCh38: Chr10:95664112	TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 205590583.	NM_015631.6(TCTN3):c.657C>T (p.Pro219=) GRCh37: Chr10:97447083 GRCh38: Chr10:95687326	TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 205363484.	NM_015631.6(TCTN3):c.1819_1820del (p.Met607fs) GRCh37: Chr10:97423828-97423829 GRCh38: Chr10:95664071-95664072	TCTN3	M607fs, M459fs	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 204517785.	NM_015631.6(TCTN3):c.323A>G (p.Asp108Gly) GRCh37: Chr10:97453167 GRCh38: Chr10:95693410	TCTN3	D108G, D126G	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 204332286.	NM_015631.6(TCTN3):c.853G>A (p.Val285Ile) GRCh37: Chr10:97446287 GRCh38: Chr10:95686530	TCTN3	V206I, V285I, V303I	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Oct 28, 2022)	criteria provided, single submitter
Select item 204241387.	NM_015631.6(TCTN3):c.783C>T (p.Asn261=) GRCh37: Chr10:97446870 GRCh38: Chr10:95687113	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Dec 13, 2021)	criteria provided, single submitter
Select item 204054988.	NM_015631.6(TCTN3):c.162T>C (p.Thr54=) GRCh37: Chr10:97453495 GRCh38: Chr10:95693738	LOC130004408, TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Likely benign (Apr 17, 2022)	criteria provided, single submitter
Select item 203480689.	NM_015631.6(TCTN3):c.2T>C (p.Met1Thr) GRCh37: Chr10:97453655 GRCh38: Chr10:95693898	LOC130004408, TCTN3	M19T, M1T	Joubert syndrome 18, Orofacial-digital syndrome IV	Pathogenic (Oct 8, 2022)	criteria provided, single submitter
Select item 203425390.	NM_015631.6(TCTN3):c.219C>T (p.Pro73=) GRCh37: Chr10:97453438 GRCh38: Chr10:95693681	LOC130004408, TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 203126291.	NM_015631.6(TCTN3):c.381-18C>T GRCh37: Chr10:97452813 GRCh38: Chr10:95693056	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 202861992.	NM_015631.6(TCTN3):c.6C>A (p.Arg2=) GRCh37: Chr10:97453651 GRCh38: Chr10:95693894	LOC130004408, TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 202780893.	NM_015631.6(TCTN3):c.910dup (p.Thr304fs) GRCh37: Chr10:97445371-97445372 GRCh38: Chr10:95685614-95685615	TCTN3	T304fs	Inborn genetic diseases, Joubert syndrome 18, Orofacial-digital syndrome IV	Pathogenic (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 202326694.	NM_015631.6(TCTN3):c.1096-12del GRCh37: Chr10:97443398 GRCh38: Chr10:95683641	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 202263395.	NM_015631.6(TCTN3):c.1163G>C (p.Gly388Ala) GRCh37: Chr10:97443319 GRCh38: Chr10:95683562	TCTN3	G388A, G361A, G406A, G240A	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 202122896.	NM_015631.6(TCTN3):c.321G>A (p.Arg107=) GRCh37: Chr10:97453169 GRCh38: Chr10:95693412	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 201200297.	NM_015631.6(TCTN3):c.1212C>T (p.Leu404=) GRCh37: Chr10:97442944 GRCh38: Chr10:95683187	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 201093098.	NM_015631.6(TCTN3):c.1226del (p.Gly409fs) GRCh37: Chr10:97442930 GRCh38: Chr10:95683173	TCTN3	G261fs, G409fs	Orofacial-digital syndrome IV, Joubert syndrome 18	Pathogenic (Jun 26, 2022)	criteria provided, single submitter
Select item 201063899.	NM_015631.6(TCTN3):c.57C>T (p.Gly19=) GRCh37: Chr10:97453600 GRCh38: Chr10:95693843	LOC130004408, TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 2007974100.	NM_015631.6(TCTN3):c.853-11T>C GRCh37: Chr10:97446298 GRCh38: Chr10:95686541	TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter

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