26123[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 587761.	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1 GRCh37: Chr10:94386437-99514859 GRCh38: Chr10:92626680-97755102	ACSM6, ALDH18A1, ANKRD2, ARHGAP19, ARHGAP19-SLIT1, AVPI1, BLNK, C10orf12, C10orf131, C10orf62, CC2D2B, CCNJ, CEP55, CYP26A1, CYP26C1, CYP2C18, CYP2C19, CYP2C8, CYP2C9, DNTT, ENTPD1, ENTPD1-AS1, EXOC6, EXOSC1, FFAR4, FRA10A, FRA10AC1, FRAT1, FRAT2, HELLS, HHEX, HOGA1, KIF11, LCOR, LGI1, LOC102723665, LOC105378448, LOC107195252, LOC110121455, LOC110121505, LOC110599569, LOC110599570, LOC110599571, LOC110599572, LOC111982881, LOC111982882, LOC111982883, LOC111982884, LOC111982885, LOC116216118, LOC116216119, LOC121366073, LOC121366074, LOC121366075, LOC121815955, LOC121815956, LOC121815957, LOC121815958, LOC121815959, LOC124416868, LOC124416869, LOC124416870, LOC124416871, LOC124416872, LOC124416873, LOC124416874, LOC124416875, LOC124416876, LOC124416877, LOC124416878, LOC124416879, LOC126860998, LOC126860999, LOC126861000, LOC126861001, LOC126861002, LOC126861003, LOC126861004, LOC126861005, LOC126861006, LOC126861007, LOC126861008, LOC126861009, LOC644215, MARVELD1, MIR3157, MIR607, MMS19, MORN4, MYOF, NOC3L, OPALIN, PDE6C, PDLIM1, PGAM1, PI4K2A, PIK3AP1, PLCE1, PLCE1-AS1, PLCE1-AS2, RBP4, RRP12, SLC35G1, SLIT1, SLIT1-AS1, SORBS1, TBC1D12, TCTN3, TLL2, TM9SF3, UBTD1, ZDHHC16, ZFYVE27, ZNF518A		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 587772.	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1 GRCh37: Chr10:94940958-103116536 GRCh38: Chr10:93181201-101356779	PYROXD2, R3HCC1L, RBP4, RRP12, SCD, SEC31B, SEMA4G, SFRP5, SFXN3, SLC25A28, SLC35G1, SLF2, SLIT1, SLIT1-AS1, SNORA12, SORBS1, TBC1D12, TCTN3, TLL2, TLX1, TLX1NB, TM9SF3, TWNK, UBTD1, WNT8B, ZDHHC16, ZFYVE27, ZNF518A, ABCC2, ACSM6, ALDH18A1, ANKRD2, ARHGAP19, ARHGAP19-SLIT1, AVPI1, BLNK, BLOC1S2, BTRC, C10orf12, C10orf131, C10orf62, CC2D2B, CCNJ, CEP55, CHUK, CNNM1, COX15, CPN1, CRTAC1, CUTC, CWF19L1, CYP2C18, CYP2C19, CYP2C8, CYP2C9, DNMBP, DNMBP-AS1, DNTT, ENTPD1, ENTPD1-AS1, ENTPD7, ERLIN1, EXOSC1, FFAR4, FRA10A, FRA10AC1, FRAT1, FRAT2, GOLGA7B, GOLGA7B-DT, GOT1, GOT1-DT, HELLS, HIF1AN, HOGA1, HPS1, HPS1-AS1, HPSE2, KAZALD1, LBX1, LBX1-AS1, LCOR, LGI1, LINC01475, LINC01514, LINC02681, LOC102723665, LOC105378448, LOC108281165, LOC110120845, LOC110121311, LOC110121505, LOC110599569, LOC110599570, LOC110599571, LOC110599572, LOC111832675, LOC111875816, LOC111875817, LOC111982881, LOC111982882, LOC111982883, LOC111982884, LOC111982885, LOC111982886, LOC111982887, LOC111982888, LOC113939913, LOC116216118, LOC116216119, LOC121366073, LOC121366074, LOC121366075, LOC121366076, LOC121815958, LOC121815959, LOC121815960, LOC121815961, LOC124416870, LOC124416871, LOC124416872, LOC124416873, LOC124416874, LOC124416875, LOC124416876, LOC124416877, LOC124416878, LOC124416879, LOC124416880, LOC124416884, LOC124416888, LOC124416890, LOC126860999, LOC126861000, LOC126861001, LOC126861002, LOC126861003, LOC126861004, LOC126861005, LOC126861006, LOC126861007, LOC126861008, LOC126861009, LOC126861010, LOC126861011, LOC126861012, LOC126861013, LOC126861014, LOC126861015, LOC126861016, LOC126861017, LOC126861018, LOC644215, LOXL4, LZTS2, MARVELD1, MIR1287, MIR3085, MIR3157, MIR4685, MIR607, MIR608, MIR6507, MMS19, MORN4, MRPL43, MYOF, NDUFB8, NKX2-3, NOC3L, OLMALINC, OPALIN, PAX2, PDE6C, PDLIM1, PDZD7, PGAM1, PI4K2A, PIK3AP1, PKD2L1, PLCE1, PLCE1-AS1, PLCE1-AS2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 571163.	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 GRCh37: Chr10:96872364-118383651 GRCh38: Chr10:95112607-116776637	LINC01435, LINC01475, LINC01514, LINC02620, LINC02624, LINC02626, LINC02627, LINC02661, LINC02681, LOC101927692, LOC102723665, LOC103344931, LOC105378448, LOC105378479, LOC105378482, LOC107984265, LOC108281165, LOC109136576, LOC110120845, LOC110120850, LOC110120886, LOC110121311, LOC110121472, LOC110121505, LOC110408762, LOC111501773, LOC111832675, LOC111875816, LOC111875817, LOC111875818, LOC111875819, LOC111875820, LOC111875821, LOC111875822, LOC111875823, LOC111875824, LOC111875825, LOC111875826, LOC111982883, LOC111982884, LOC111982885, LOC111982886, LOC111982887, LOC111982888, LOC113939913, LOC113939914, LOC116216118, LOC116216119, LOC116216120, LOC116216121, LOC121366075, LOC121366076, LOC121366077, LOC121366078, LOC121366079, LOC121366080, LOC121366081, LOC121366082, LOC121815958, LOC121815959, LOC121815960, LOC121815961, LOC121815962, LOC121815963, LOC121815964, LOC121815965, LOC121815966, LOC121815967, LOC121815968, LOC121815969, LOC124416872, LOC124416873, LOC124416874, LOC124416875, LOC124416876, LOC124416877, LOC124416878, LOC124416879, LOC124416880, LOC124416884, LOC124416888, LOC124416890, LOC124416891, LOC124416892, LOC124416893, LOC124416894, LOC124416895, LOC124416896, LOC124416897, LOC124416898, LOC124416899, LOC124416900, LOC124416901, LOC124416902, LOC124416903, LOC124416904, LOC124416905, LOC124416906, LOC124416907, LOC124416908, LOC124416909, LOC124416910, LOC124416911, LOC124416912, LOC124416913, LOC124416914, LOC124416915, LOC126861005, LOC126861006, LOC126861007, LOC126861008, LOC126861009, LOC126861010, LOC126861011, LOC126861012, LOC126861013, LOC126861014, LOC126861015, LOC126861016, LOC126861017, LOC126861018, LOC126861019, LOC126861020, LOC126861021, LOC126861022, LOC126861023, LOC126861024, LOC126861025, LOC126861026, LOC126861027, LOC126861028, LOC126861029, LOC126861030, LOC126861031, LOC126861032, LOC126861033, LOC126861034, LOC126861035, LOC126861036, LOC126861037, LOC126861038, LOC126861039, LOC126861040, LOC126861041, LOC126861042, LOC126861043, LOC126861044, LOC126861045, LOC126861046, LOC126861047, LOC126861048, LOC126861049, LOC126861050, LOC126861051, LOC126861052, LOC126861053, LOC126861054, LOC128772341, LOC644215, LOXL4, LZTS2, MARVELD1, MFSD13A, MIR1287, MIR1307, MIR146B, MIR2110, MIR3085, MIR3157, MIR3158-1, MIR3158-2, MIR4295, MIR4482, MIR4483, MIR4680, MIR4685, MIR548E, MIR607, MIR608, MIR609, MIR6507, MIR6715A, MIR6715B, MIR936, MMS19, MORN4, MRPL43, MXI1, NDUFB8, NEURL1, NEURL1-AS1, NFKB2, NHLRC2, NKX2-3, NOLC1, NPM3, NRAP, NT5C2, OGA, OLMALINC, OPALIN, PAX2, PCGF6, PDCD11, PDCD4, PDCD4-AS1, PDLIM1, PDZD7, PGAM1, PI4K2A, PIK3AP1, PITX3, PKD2L1, PLEKHS1, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, PPRC1, PSD, PYROXD2, R3HCC1L, RBM20, RPEL1, RRP12, SCD, SEC31B, SEMA4G, SFR1, SFRP5, SFXN2, SFXN3, SH3PXD2A, SH3PXD2A-AS1, SHOC2, SLC25A28, SLF2, SLIT1, SLIT1-AS1, SLK, SMC3, SMNDC1, SNORA12, SNORA87, SNORD158, SORBS1, SORCS1, SORCS3, SORCS3-AS1, SPMIP5, STN1, SUFU, TAF5, TCF7L2, TCTN3, TDRD1, TECTB, TLL2, TLX1, TLX1NB, TM9SF3, TRIM8, TRUB1, TWNK, UBTD1, VTI1A, VWA2, WBP1L, WNT8B, XPNPEP1, ZDHHC16, ZDHHC6, ZFYVE27, ZNF518A, ABCC2, ABLIM1, ACSL5, ACSM6, ACTR1A, ADD3, ADD3-AS1, ADRA2A, ADRB1, AFAP1L2, ALDH18A1, ANKRD2, ARHGAP19, ARHGAP19-SLIT1, ARL3, ARMH3, AS3MT, ATP5MK, ATRNL1, AVPI1, BBIP1, BLNK, BLOC1S2, BORCS7, BORCS7-ASMT, BTRC, C10orf12, C10orf131, C10orf62, C10orf95, C10orf95-AS1, CALHM1, CALHM2, CALHM3, CASP7, CC2D2B, CCDC172, CCDC186, CCNJ, CFAP43, CFAP58, CFAP58-DT, CHUK, CNNM1, CNNM2, COL17A1, COX15, CPN1, CRTAC1, CUEDC2, CUTC, CWF19L1, CYP17A1, CYP17A1-AS1, DCLRE1A, DNMBP, DNMBP-AS1, DNTT, DPCD, DUSP5, DUSP5-DT, ELOVL3, ENTPD1, ENTPD1-AS1, ENTPD7, ERLIN1, EXOSC1, FBXL15, FBXW4, FGF8, FHIP2A, FRA10B, FRAT1, FRAT2, GBF1, GFRA1, GOLGA7B, GOLGA7B-DT, GOT1, GOT1-DT, GPAM, GSTO1, GSTO2, HABP2, HEAT2, HIF1AN, HOGA1, HPS1, HPS1-AS1, HPS6, HPSE2, HSPA12A, HSPA12A-AS1, INA, ITPRIP, ITPRIP-AS1, KAZALD1, KCNIP2, KCNIP2-AS1, LBX1, LBX1-AS1, LCOR, LDB1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 594014.	GRCh38/hg38 10q24.1(chr10:95606298-95966000)x1 GRCh37: Chr10:97366055-97725757 GRCh38: Chr10:95606298-95966000	ALDH18A1, C10orf131, CC2D2B, ENTPD1, ENTPD1-AS1, LOC121815958, LOC124416875, TCTN3		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 12369895.	NM_015631.6(TCTN3):c.*116G>T GRCh37: Chr10:97423708 GRCh38: Chr10:95663951	TCTN3		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 12367936.	NM_015631.6(TCTN3):c.*45T>C GRCh37: Chr10:97423779 GRCh38: Chr10:95664022	TCTN3		not provided	Benign (Sep 18, 2018)	criteria provided, single submitter
Select item 20536347.	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 19430128.	NM_015631.6(TCTN3):c.1809C>T (p.Asn603=) GRCh37: Chr10:97423839 GRCh38: Chr10:95664082	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (May 14, 2022)	criteria provided, single submitter
Select item 14910599.	NM_015631.6(TCTN3):c.1796T>G (p.Leu599Arg) GRCh37: Chr10:97423852 GRCh38: Chr10:95664095	TCTN3	L599R, L451R	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 196398010.	NM_015631.6(TCTN3):c.1792C>T (p.Leu598=) GRCh37: Chr10:97423856 GRCh38: Chr10:95664099	TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 75950911.	NM_015631.6(TCTN3):c.1782G>C (p.Leu594=) GRCh37: Chr10:97423866 GRCh38: Chr10:95664109	TCTN3		not provided	Likely benign (Jun 13, 2018)	criteria provided, single submitter
Select item 205655212.	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 206412213.	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 19441514.	NM_015631.6(TCTN3):c.1774C>G (p.Leu592Val) GRCh37: Chr10:97423874 GRCh38: Chr10:95664117	TCTN3	L592V, L444V	not provided, Inborn genetic diseases, Joubert syndrome 18, Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 200538315.	NM_015631.6(TCTN3):c.1772T>C (p.Ile591Thr) GRCh37: Chr10:97423876 GRCh38: Chr10:95664119	TCTN3	I559T, I443T, I591T, I609T	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 59192916.	NM_015631.6(TCTN3):c.1772del (p.Ile591fs) GRCh37: Chr10:97423876 GRCh38: Chr10:95664119	TCTN3	I591fs, I443fs	not provided	Uncertain significance (Sep 16, 2018)	no assertion criteria provided
Select item 144204117.	NM_015631.6(TCTN3):c.1771A>T (p.Ile591Phe) GRCh37: Chr10:97423877 GRCh38: Chr10:95664120	TCTN3	I443F, I591F	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Oct 13, 2021)	criteria provided, single submitter
Select item 144869318.	NM_015631.6(TCTN3):c.1766C>G (p.Ser589Cys) GRCh37: Chr10:97423882 GRCh38: Chr10:95664125	TCTN3	S441C, S589C	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 38667619.	NM_015631.6(TCTN3):c.1764C>T (p.Val588=) GRCh37: Chr10:97423884 GRCh38: Chr10:95664127	TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV, not provided	Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213954920.	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 93114721.	NM_015631.6(TCTN3):c.1760C>A (p.Ser587Ter) GRCh37: Chr10:97423888 GRCh38: Chr10:95664131	TCTN3	S439, S587	Orofacial-digital syndrome IV	Likely pathogenic (Jun 28, 2019)	criteria provided, single submitter
Select item 241756822.	NM_015631.6(TCTN3):c.1758C>T (p.Cys586=) GRCh37: Chr10:97423890 GRCh38: Chr10:95664133	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 214207623.	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 101369424.	NM_015631.6(TCTN3):c.1741G>C (p.Val581Leu) GRCh37: Chr10:97423907 GRCh38: Chr10:95664150	TCTN3	V433L, V581L	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 142440825.	NM_015631.6(TCTN3):c.1736G>A (p.Arg579Lys) GRCh37: Chr10:97423912 GRCh38: Chr10:95664155	TCTN3	R579K, R431K	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 161640226.	NM_015631.6(TCTN3):c.1716C>T (p.Pro572=) GRCh37: Chr10:97423932 GRCh38: Chr10:95664175	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 210484627.	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 141167528.	NM_015631.6(TCTN3):c.1705G>A (p.Asp569Asn) GRCh37: Chr10:97423943 GRCh38: Chr10:95664186	TCTN3	D421N, D569N	Inborn genetic diseases, Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215152329.	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 155794430.	NM_015631.6(TCTN3):c.1695A>G (p.Lys565=) GRCh37: Chr10:97423953 GRCh38: Chr10:95664196	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 214510731.	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 160915032.	NM_015631.6(TCTN3):c.1680C>T (p.Pro560=) GRCh37: Chr10:97423968 GRCh38: Chr10:95664211	TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 208173233.	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 137535434.	NM_015631.6(TCTN3):c.1660C>T (p.Gln554Ter) GRCh37: Chr10:97423988 GRCh38: Chr10:95664231	TCTN3	Q554, Q406	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 157163535.	NM_015631.6(TCTN3):c.1650C>T (p.Thr550=) GRCh37: Chr10:97423998 GRCh38: Chr10:95664241	TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Likely benign (Nov 8, 2021)	criteria provided, single submitter
Select item 142080636.	NM_015631.6(TCTN3):c.1647del (p.Thr550fs) GRCh37: Chr10:97424001 GRCh38: Chr10:95664244	TCTN3	T402fs, T550fs	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 139957937.	NM_015631.6(TCTN3):c.1606_1611del (p.Thr536_Glu537del) GRCh37: Chr10:97424037-97424042 GRCh38: Chr10:95664280-95664285	TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 59118238.	NM_015631.6(TCTN3):c.1609_1610del (p.Glu537fs) GRCh37: Chr10:97424038-97424039 GRCh38: Chr10:95664281-95664282	TCTN3	E389fs, E537fs	not provided	Uncertain significance (Sep 16, 2018)	no assertion criteria provided
Select item 208346239.	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 146116340.	NM_015631.6(TCTN3):c.1607C>T (p.Thr536Ile) GRCh37: Chr10:97424041 GRCh38: Chr10:95664284	TCTN3	T388I, T536I	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 139802441.	NM_015631.6(TCTN3):c.1606A>G (p.Thr536Ala) GRCh37: Chr10:97424042 GRCh38: Chr10:95664285	TCTN3	T536A, T388A	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 217441142.	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 151465043.	NM_015631.6(TCTN3):c.1592A>T (p.Asp531Val) GRCh37: Chr10:97424056 GRCh38: Chr10:95664299	TCTN3	D383V, D531V	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Sep 3, 2021)	criteria provided, single submitter
Select item 190557044.	NM_015631.6(TCTN3):c.1591G>A (p.Asp531Asn) GRCh37: Chr10:97424057 GRCh38: Chr10:95664300	TCTN3	D383N, D499N, D531N, D549N	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 140270245.	NM_015631.6(TCTN3):c.1591G>T (p.Asp531Tyr) GRCh37: Chr10:97424057 GRCh38: Chr10:95664300	TCTN3	D383Y, D531Y	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 110821746.	NM_015631.6(TCTN3):c.1591-4G>A GRCh37: Chr10:97424061 GRCh38: Chr10:95664304	TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 49991347.	NM_015631.6(TCTN3):c.1591-5C>T GRCh37: Chr10:97424062 GRCh38: Chr10:95664305	TCTN3		Inborn genetic diseases, Orofacial-digital syndrome IV, Joubert syndrome 18, not provided	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 212674048.	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 75964949.	NM_015631.6(TCTN3):c.1591-9T>G GRCh37: Chr10:97424066 GRCh38: Chr10:95664309	TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 51518250.	NM_015631.6(TCTN3):c.1591-12T>C GRCh37: Chr10:97424069 GRCh38: Chr10:95664312	TCTN3		not specified, Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Jun 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 124712751.	NM_015631.6(TCTN3):c.1591-169del GRCh37: Chr10:97424226 GRCh38: Chr10:95664469	TCTN3		not provided	Benign (Jun 19, 2018)	criteria provided, single submitter
Select item 119313852.	NM_015631.6(TCTN3):c.1590+224del GRCh37: Chr10:97440005 GRCh38: Chr10:95680248	TCTN3		not provided	Likely benign (Jun 16, 2018)	criteria provided, single submitter
Select item 129598053.	NM_015631.6(TCTN3):c.1590+185dup GRCh37: Chr10:97440043-97440044 GRCh38: Chr10:95680286-95680287	TCTN3		not provided	Benign (Jun 16, 2018)	criteria provided, single submitter
Select item 126067654.	NM_015631.6(TCTN3):c.1590+128_1590+130del GRCh37: Chr10:97440099-97440101 GRCh38: Chr10:95680342-95680344	TCTN3		not provided	Benign (Jan 2, 2019)	criteria provided, single submitter
Select item 67023055.	NM_015631.6(TCTN3):c.1590+125_1590+126insCC GRCh37: Chr10:97440103-97440104 GRCh38: Chr10:95680346-95680347	TCTN3		not provided	Benign (Jun 16, 2018)	criteria provided, single submitter
Select item 67667756.	NM_015631.6(TCTN3):c.1590+123T>C GRCh37: Chr10:97440106 GRCh38: Chr10:95680349	TCTN3		not provided	Benign (Jun 19, 2018)	criteria provided, single submitter
Select item 123569757.	NM_015631.6(TCTN3):c.1590+70C>T GRCh37: Chr10:97440159 GRCh38: Chr10:95680402	TCTN3		not provided	Benign (Jun 26, 2018)	criteria provided, single submitter
Select item 157289458.	NM_015631.6(TCTN3):c.1590+15A>T GRCh37: Chr10:97440214 GRCh38: Chr10:95680457	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 153129059.	NM_015631.6(TCTN3):c.1590+15A>G GRCh37: Chr10:97440214 GRCh38: Chr10:95680457	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Nov 13, 2020)	criteria provided, single submitter
Select item 189954360.	NM_015631.6(TCTN3):c.1590+14C>T GRCh37: Chr10:97440215 GRCh38: Chr10:95680458	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 195220061.	NM_015631.6(TCTN3):c.1590+8A>G GRCh37: Chr10:97440221 GRCh38: Chr10:95680464	TCTN3		Joubert syndrome 18, Orofacial-digital syndrome IV	Likely benign (Oct 22, 2022)	criteria provided, single submitter
Select item 44423262.	NM_015631.6(TCTN3):c.1582_1590+7del GRCh37: Chr10:97440222-97440237 GRCh38: Chr10:95680465-95680480	TCTN3		not provided	Likely pathogenic (Jun 1, 2017)	criteria provided, single submitter
Select item 144005763.	NM_015631.6(TCTN3):c.1590+4A>T GRCh37: Chr10:97440225 GRCh38: Chr10:95680468	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Feb 17, 2021)	criteria provided, single submitter
Select item 149115664.	NM_015631.6(TCTN3):c.1589A>G (p.Gln530Arg) GRCh37: Chr10:97440230 GRCh38: Chr10:95680473	TCTN3	Q530R, Q382R	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 200277565.	NM_015631.6(TCTN3):c.1583C>A (p.Ser528Tyr) GRCh37: Chr10:97440236 GRCh38: Chr10:95680479	TCTN3	S496Y, S546Y, S528Y, S380Y	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 218697766.	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 207589967.	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 207201568.	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 39162269.	NM_015631.6(TCTN3):c.1575G>A (p.Gln525=) GRCh37: Chr10:97440244 GRCh38: Chr10:95680487	TCTN3		not specified, Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140284470.	NM_015631.6(TCTN3):c.1572C>G (p.Tyr524Ter) GRCh37: Chr10:97440247 GRCh38: Chr10:95680490	TCTN3	Y376, Y524	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Nov 16, 2021)	criteria provided, single submitter
Select item 160519571.	NM_015631.6(TCTN3):c.1569A>C (p.Leu523=) GRCh37: Chr10:97440250 GRCh38: Chr10:95680493	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Nov 16, 2021)	criteria provided, single submitter
Select item 59394772.	NM_015631.6(TCTN3):c.1569A>G (p.Leu523=) GRCh37: Chr10:97440250 GRCh38: Chr10:95680493	TCTN3		not provided, Joubert syndrome 18, Orofacial-digital syndrome IV	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 38590873.	NM_015631.6(TCTN3):c.1567C>T (p.Leu523=) GRCh37: Chr10:97440252 GRCh38: Chr10:95680495	TCTN3		not specified, Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171625174.	NM_015631.6(TCTN3):c.1564T>C (p.Phe522Leu) GRCh37: Chr10:97440255 GRCh38: Chr10:95680498	TCTN3	F374L, F490L, F522L, F540L	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 214225775.	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 143098176.	NM_015631.6(TCTN3):c.1562G>C (p.Arg521Pro) GRCh37: Chr10:97440257 GRCh38: Chr10:95680500	TCTN3	R373P, R521P	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 242925677.	NM_015631.6(TCTN3):c.1561C>T (p.Arg521Ter) GRCh37: Chr10:97440258 GRCh38: Chr10:95680501	TCTN3	R373, R489, R521, R539	not specified	Uncertain significance (Jan 20, 2023)	criteria provided, single submitter
Select item 75454278.	NM_015631.6(TCTN3):c.1554A>T (p.Ser518=) GRCh37: Chr10:97440265 GRCh38: Chr10:95680508	TCTN3		not provided	Likely benign (Jun 25, 2018)	criteria provided, single submitter
Select item 154662879.	NM_015631.6(TCTN3):c.1539G>A (p.Pro513=) GRCh37: Chr10:97440280 GRCh38: Chr10:95680523	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 148196080.	NM_015631.6(TCTN3):c.1538C>T (p.Pro513Leu) GRCh37: Chr10:97440281 GRCh38: Chr10:95680524	TCTN3	P513L, P365L	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 42329381.	NM_015631.6(TCTN3):c.1537C>T (p.Pro513Ser) GRCh37: Chr10:97440282 GRCh38: Chr10:95680525	TCTN3	P513S, P365S	Orofacial-digital syndrome IV, Joubert syndrome 18, not provided	Uncertain significance (Sep 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 148120982.	NM_015631.6(TCTN3):c.1529_1532dup (p.Asn512fs) GRCh37: Chr10:97440286-97440287 GRCh38: Chr10:95680529-95680530	TCTN3	N364fs, N512fs	Orofacial-digital syndrome IV, Joubert syndrome 18	Likely pathogenic (Sep 9, 2021)	criteria provided, single submitter
Select item 143904183.	NM_015631.6(TCTN3):c.1520dup (p.Gly508fs) GRCh37: Chr10:97440298-97440299 GRCh38: Chr10:95680541-95680542	TCTN3	G360fs, G508fs	not specified, Joubert syndrome 18, Orofacial-digital syndrome IV	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 196057784.	NM_015631.6(TCTN3):c.1513G>A (p.Ala505Thr) GRCh37: Chr10:97440306 GRCh38: Chr10:95680549	TCTN3	A505T, A523T, A357T, A473T	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 195408785.	NM_015631.6(TCTN3):c.1503G>A (p.Gln501=) GRCh37: Chr10:97440316 GRCh38: Chr10:95680559	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 172039786.	NM_015631.6(TCTN3):c.1499T>C (p.Ile500Thr) GRCh37: Chr10:97440320 GRCh38: Chr10:95680563	TCTN3	I352T, I468T, I500T, I518T	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 159694187.	NM_015631.6(TCTN3):c.1497G>A (p.Glu499=) GRCh37: Chr10:97440322 GRCh38: Chr10:95680565	TCTN3		Orofacial-digital syndrome IV, Joubert syndrome 18	Likely benign (Jan 25, 2021)	criteria provided, single submitter
Select item 191078288.	NM_015631.6(TCTN3):c.1490C>G (p.Ser497Cys) GRCh37: Chr10:97440329 GRCh38: Chr10:95680572	TCTN3	S349C, S515C, S497C, S465C	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 195341089.	NM_015631.6(TCTN3):c.1489T>G (p.Ser497Ala) GRCh37: Chr10:97440330 GRCh38: Chr10:95680573	TCTN3	S497A, S349A, S465A, S515A	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 112009790.	NM_015631.6(TCTN3):c.1474_1484del (p.Cys492fs) GRCh37: Chr10:97440335-97440345 GRCh38: Chr10:95680578-95680588	TCTN3	C344fs, C492fs	not specified, Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141910391.	NM_015631.6(TCTN3):c.1474T>A (p.Cys492Ser) GRCh37: Chr10:97440345 GRCh38: Chr10:95680588	TCTN3	C492S, C344S	Inborn genetic diseases, Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 208187192.	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 216321193.	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 142134794.	NM_015631.6(TCTN3):c.1466C>T (p.Thr489Ile) GRCh37: Chr10:97440353 GRCh38: Chr10:95680596	TCTN3	T341I, T489I	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 137220195.	NM_015631.6(TCTN3):c.1463G>C (p.Cys488Ser) GRCh37: Chr10:97440356 GRCh38: Chr10:95680599	TCTN3	C340S, C488S	Joubert syndrome 18, Orofacial-digital syndrome IV	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 150975396.	NM_015631.6(TCTN3):c.1457T>A (p.Ile486Lys) GRCh37: Chr10:97440362 GRCh38: Chr10:95680605	TCTN3	I338K, I486K	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 243702897.	NM_015631.6(TCTN3):c.1456A>G (p.Ile486Val) GRCh37: Chr10:97440363 GRCh38: Chr10:95680606	TCTN3	I338V, I454V, I486V, I504V	not provided	Uncertain significance (Jan 16, 2019)	criteria provided, single submitter
Select item 134534698.	NM_015631.6(TCTN3):c.1453G>T (p.Ala485Ser) GRCh37: Chr10:97440366 GRCh38: Chr10:95680609	TCTN3	A337S, A485S	Orofacial-digital syndrome IV, Joubert syndrome 18	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 67504599.	NM_015631.6(TCTN3):c.1453-28A>G GRCh37: Chr10:97440394 GRCh38: Chr10:95680637	TCTN3		not provided, Orofacial-digital syndrome IV, Joubert syndrome 18	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1259850100.	NM_015631.6(TCTN3):c.1453-128del GRCh37: Chr10:97440494 GRCh38: Chr10:95680737	TCTN3		not provided	Benign (Jun 26, 2018)	criteria provided, single submitter

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