ClinVar for Gene (Select 79600) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366636	NM_001082538.3(TCTN1):c.1114dup (p.Gln372fs)	TCTN1 (Q194fs +4 more)	Duplication (frameshift variant)	Joubert syndrome and related disorders	GPathogenic
Select item 3366343	NM_001082538.3(TCTN1):c.291C>A (p.Cys97Ter)	TCTN1 (C37* +2 more)	Single nucleotide variant (nonsense +2 more)	Joubert syndrome and related disorders	GPathogenic
Select item 3349022	NM_001082538.3(TCTN1):c.625-2A>G	TCTN1	Single nucleotide variant (splice acceptor variant)	TCTN1-related disorder	GLikely pathogenic
Select item 3339968	NM_001082538.3(TCTN1):c.342-8A>G	TCTN1	Single nucleotide variant (intron variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 3325075	NM_001082538.3(TCTN1):c.1060G>C (p.Val354Leu)	TCTN1 (V176L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3244265	NC_000012.11:g.(?_111057621)_(111057781_?)del	TCTN1	Deletion	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 3175379	NM_001082538.3(TCTN1):c.988A>G (p.Ser330Gly)	TCTN1 (S330G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3175378	NM_001082538.3(TCTN1):c.1760T>A (p.Phe587Tyr)	TCTN1 (F478Y +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3175377	NM_001082538.3(TCTN1):c.1759T>A (p.Phe587Ile)	TCTN1 (F404I +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3061949	NM_001082538.3(TCTN1):c.1635+1G>A	TCTN1	Single nucleotide variant (splice donor variant)	Joubert syndrome 13	GLikely pathogenic
Select item 3045586	NM_001082538.3(TCTN1):c.483A>T (p.Ala161=)	TCTN1	Single nucleotide variant (synonymous variant +2 more)	TCTN1-related disorder	GLikely benign
Select item 3042806	NM_001082538.3(TCTN1):c.624+122A>G	TCTN1	Single nucleotide variant (3 prime UTR variant +1 more)	TCTN1-related disorder	GLikely benign
Select item 2954160	NM_001082538.3(TCTN1):c.472+1G>C	TCTN1	Single nucleotide variant (splice donor variant)	Meckel-Gruber syndrome +1 more	GLikely pathogenic
Select item 2951776	NM_001082538.3(TCTN1):c.221-8_221-7del	TCTN1	Deletion (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2948649	NM_001082538.3(TCTN1):c.624+12C>A	TCTN1 (N156K)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2948555	NM_001082538.3(TCTN1):c.1505dup (p.Leu502fs)	TCTN1 (L393fs +1 more)	Duplication (intron variant +1 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2945590	NM_001082538.3(TCTN1):c.472+18A>G	TCTN1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2942895	NM_001082538.3(TCTN1):c.962del (p.Val321fs)	TCTN1 (V143fs +4 more)	Deletion (frameshift variant +1 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2941219	NM_001082538.3(TCTN1):c.472+14A>G	TCTN1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2940218	NM_001082538.3(TCTN1):c.1494+10A>G	TCTN1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2940133	NM_001082538.3(TCTN1):c.341+20A>T	TCTN1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2939936	NM_001082538.3(TCTN1):c.209_210del (p.Pro70fs)	TCTN1 (P70fs)	Deletion (frameshift variant +2 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2939724	NM_001082538.3(TCTN1):c.512A>G (p.Asp171Gly)	TCTN1 (D171G +2 more)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2938880	NM_001082538.3(TCTN1):c.151A>G (p.Thr51Ala)	TCTN1 (T51A)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2938234	NM_001082538.3(TCTN1):c.1749G>A (p.Leu583=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2937823	NM_001082538.3(TCTN1):c.220+11T>C	LOC130008755, TCTN1 (M1T)	Single nucleotide variant (missense variant +3 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2937669	NM_001082538.3(TCTN1):c.342-19T>C	TCTN1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2935446	NM_001082538.3(TCTN1):c.1125T>C (p.Pro375=)	TCTN1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2933290	NM_001082538.3(TCTN1):c.1105-14G>C	TCTN1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2932159	NM_001082538.3(TCTN1):c.1677G>A (p.Ala559=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2930989	NM_001082538.3(TCTN1):c.712+8del	TCTN1	Deletion (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2930646	NM_001082538.3(TCTN1):c.396A>C (p.Thr132=)	TCTN1	Single nucleotide variant (synonymous variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2930641	NM_001082538.3(TCTN1):c.532T>C (p.Leu178=)	TCTN1	Single nucleotide variant (synonymous variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2929624	NM_001082538.3(TCTN1):c.823-17G>C	TCTN1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2929424	NM_001082538.3(TCTN1):c.1494+9G>A	TCTN1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2928856	NM_001082538.3(TCTN1):c.915T>C (p.Asp305=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2927751	NM_001082538.3(TCTN1):c.993C>G (p.Leu331=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2927546	NM_001082538.3(TCTN1):c.84G>C (p.Pro28=)	TCTN1	Single nucleotide variant (synonymous variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2926489	NM_001082538.3(TCTN1):c.669T>C (p.Pro223=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2923394	NM_001082538.3(TCTN1):c.186C>G (p.Pro62=)	TCTN1	Single nucleotide variant (synonymous variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2922318	NM_001082538.3(TCTN1):c.1332-1G>C	TCTN1	Single nucleotide variant (splice acceptor variant +1 more)	Familial aplasia of the vermis +1 more	GLikely pathogenic
Select item 2921929	NM_001082538.3(TCTN1):c.256_257del (p.Gln86fs)	TCTN1 (Q86fs +2 more)	Microsatellite (frameshift variant +2 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2921689	NM_001082538.3(TCTN1):c.1495-15C>G	TCTN1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2921510	NM_001082538.3(TCTN1):c.1636-20C>G	TCTN1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2681579	NM_001082538.3(TCTN1):c.713-204G>C	TCTN1	Single nucleotide variant (intron variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2643289	NM_001082538.3(TCTN1):c.713-227G>A	TCTN1 (E254K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2633125	NM_001082538.3(TCTN1):c.823-2A>G	TCTN1	Single nucleotide variant (splice acceptor variant)	TCTN1-related disorder	GLikely pathogenic
Select item 2623358	NM_001082538.3(TCTN1):c.1098T>A (p.Phe366Leu)	TCTN1 (F188L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601939	NM_001082538.3(TCTN1):c.808C>T (p.Pro270Ser)	TCTN1 (P210S +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2581370	NM_001082538.3(TCTN1):c.1494+2T>C	TCTN1	Single nucleotide variant (splice donor variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2551461	NM_001082538.3(TCTN1):c.1338T>C (p.Thr446=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2543296	NM_001082538.3(TCTN1):c.65C>T (p.Ala22Val)	TCTN1 (A22V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2501103	NC_000012.11:g.(111052208_111057640)_(111057762_111064166)del	TCTN1	Deletion	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2437027	NM_001082538.3(TCTN1):c.1769C>T (p.Pro590Leu)	TCTN1 (P407L +6 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 13 +2 more	GUncertain significance
Select item 2430064	NM_001082538.3(TCTN1):c.1105-3C>G	TCTN1	Single nucleotide variant (intron variant)	Developmental disorder	GUncertain significance
Select item 2429171	NM_001082538.2(TCTN1):c.1336_1339delACTG	TCTN1	Microsatellite (splice acceptor variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2423666	NC_000012.11:g.(?_111079754)_(111082915_?)del	TCTN1	Deletion	Meckel-Gruber syndrome +1 more	GLikely pathogenic
Select item 2423665	NC_000012.11:g.(?_111064147)_(111074326_?)del	TCTN1	Deletion	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 2419793	NM_001082538.3(TCTN1):c.363T>C (p.Ser121=)	TCTN1	Single nucleotide variant (synonymous variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2416601	NM_001082538.3(TCTN1):c.1104+2T>C	TCTN1	Single nucleotide variant (splice donor variant)	Familial aplasia of the vermis +1 more	GLikely pathogenic
Select item 2416357	NM_001082538.3(TCTN1):c.332C>T (p.Pro111Leu)	TCTN1 (P111L +2 more)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2404097	NM_001082538.3(TCTN1):c.259T>C (p.Cys87Arg)	TCTN1 (C31R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2301570	NM_001082538.3(TCTN1):c.1072C>A (p.Leu358Met)	TCTN1 (L180M +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272871	NM_001082538.3(TCTN1):c.1424G>A (p.Gly475Glu)	TCTN1 (G297E +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2202313	NM_001082538.3(TCTN1):c.1327C>T (p.Leu443=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2187933	NM_001082538.3(TCTN1):c.1639A>G (p.Asn547Asp)	TCTN1 (N364D +6 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2185792	NM_001082538.3(TCTN1):c.1600G>A (p.Val534Ile)	TCTN1 (V425I +6 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2184781	NM_001082538.3(TCTN1):c.216G>C (p.Thr72=)	TCTN1	Single nucleotide variant (synonymous variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2181362	NM_001082538.3(TCTN1):c.262G>A (p.Asp88Asn)	TCTN1 (D88N +2 more)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +2 more	GLikely pathogenic
Select item 2179953	NM_001082538.3(TCTN1):c.473-4dup	TCTN1	Duplication (intron variant)	Meckel-Gruber syndrome +1 more	GBenign
Select item 2177859	NM_001082538.3(TCTN1):c.625-16G>C	TCTN1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2169835	NM_001082538.3(TCTN1):c.1494+21del	TCTN1	Deletion (intron variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2169748	NM_001082538.3(TCTN1):c.114C>A (p.Thr38=)	TCTN1	Single nucleotide variant (synonymous variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2161716	NM_001082538.3(TCTN1):c.347A>G (p.Asp116Gly)	TCTN1 (D116G +2 more)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2156940	NM_001082538.3(TCTN1):c.205A>G (p.Thr69Ala)	TCTN1 (T69A)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2156227	NM_001082538.3(TCTN1):c.1691A>C (p.Asp564Ala)	TCTN1 (D503A +6 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2155285	NM_001082538.3(TCTN1):c.146C>T (p.Pro49Leu)	TCTN1 (P49L)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2153948	NM_001082538.3(TCTN1):c.163_164delinsAA (p.Gly55Lys)	TCTN1 (G55K)	Indel (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2147438	NM_001082538.3(TCTN1):c.156G>T (p.Arg52Ser)	TCTN1 (R52S)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2146243	NM_001082538.3(TCTN1):c.18C>G (p.Leu6=)	TCTN1	Single nucleotide variant (synonymous variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2146238	NM_001082538.3(TCTN1):c.159C>T (p.Pro53=)	TCTN1	Single nucleotide variant (synonymous variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2141775	NM_001082538.3(TCTN1):c.284C>T (p.Pro95Leu)	TCTN1 (P35L +2 more)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2141262	NM_001082538.3(TCTN1):c.1050A>G (p.Thr350=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2133841	NM_001082538.3(TCTN1):c.844G>A (p.Val282Ile)	TCTN1 (V268I +4 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2131347	NM_001082538.3(TCTN1):c.496A>C (p.Asn166His)	TCTN1 (N166H +2 more)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2124915	NM_001082538.3(TCTN1):c.630G>A (p.Gly210=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2110054	NM_001082538.3(TCTN1):c.809C>A (p.Pro270Gln)	TCTN1 (P214Q +3 more)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2105391	NM_001082538.3(TCTN1):c.1425A>C (p.Gly475=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2104122	NM_001082538.3(TCTN1):c.235G>T (p.Val79Phe)	TCTN1 (V79F +2 more)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2097151	NM_001082538.3(TCTN1):c.1524C>T (p.Leu508=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2093395	NM_001082538.3(TCTN1):c.202C>G (p.Pro68Ala)	TCTN1 (P68A)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2092799	NM_001082538.3(TCTN1):c.1209C>A (p.Thr403=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2091314	NM_001082538.3(TCTN1):c.1731A>G (p.Pro577=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2086917	NM_001082538.3(TCTN1):c.1045G>A (p.Gly349Arg)	TCTN1 (G171R +4 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2085509	NM_001082538.3(TCTN1):c.220+15C>A	LOC130008755, TCTN1 (C2*)	Single nucleotide variant (nonsense +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2082750	NM_001082538.3(TCTN1):c.1636-16T>G	TCTN1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2075627	NM_001082538.3(TCTN1):c.767G>T (p.Cys256Phe)	TCTN1 (C196F +3 more)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2071230	NM_001082538.3(TCTN1):c.1705G>A (p.Ala569Thr)	TCTN1 (A564T +6 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2070463	NM_001082538.3(TCTN1):c.1233T>A (p.Thr411=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2068155	NM_001082538.3(TCTN1):c.251C>T (p.Pro84Leu)	TCTN1 (P24L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance

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