ClinVar for Gene (Select 79867) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3574385	NM_024809.5(TCTN2):c.1998T>C (p.Ser666=)	TCTN2	Single nucleotide variant (synonymous variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574384	NM_024809.5(TCTN2):c.1969A>G (p.Thr657Ala)	TCTN2 (T656A +2 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574383	NM_024809.5(TCTN2):c.1936G>A (p.Glu646Lys)	TCTN2 (E601K +2 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574382	NM_024809.5(TCTN2):c.1911dup (p.Thr638fs)	TCTN2 (T638fs +2 more)	Duplication (frameshift variant)	Joubert syndrome 24 +1 more	GLikely pathogenic
Select item 3574381	NM_024809.5(TCTN2):c.1905C>T (p.Ile635=)	TCTN2	Single nucleotide variant (synonymous variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574379	NM_024809.5(TCTN2):c.1896-17_1896-16delinsAA	TCTN2	Indel (intron variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574378	NM_024809.5(TCTN2):c.1885C>T (p.Pro629Ser)	TCTN2 (P584S +2 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574377	NM_024809.5(TCTN2):c.1802G>T (p.Gly601Val)	TCTN2 (G556V +2 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574376	NM_024809.5(TCTN2):c.1788G>A (p.Trp596Ter)	TCTN2 (W551* +2 more)	Single nucleotide variant (nonsense)	Joubert syndrome 24 +1 more	GLikely pathogenic
Select item 3574375	NM_024809.5(TCTN2):c.1753C>G (p.Leu585Val)	TCTN2 (L540V +2 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574374	NM_024809.5(TCTN2):c.1743G>A (p.Gln581=)	TCTN2	Single nucleotide variant (synonymous variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574372	NM_024809.5(TCTN2):c.1692G>C (p.Leu564=)	TCTN2	Single nucleotide variant (synonymous variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574371	NM_024809.5(TCTN2):c.1682C>G (p.Pro561Arg)	TCTN2 (P560R +2 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574370	NM_024809.5(TCTN2):c.1612+2dup	TCTN2	Duplication (splice donor variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574369	NM_024809.5(TCTN2):c.1612+1G>C	TCTN2	Single nucleotide variant (splice donor variant)	Joubert syndrome 24 +1 more	GLikely pathogenic
Select item 3574368	NM_024809.5(TCTN2):c.1603G>A (p.Glu535Lys)	TCTN2 (E535K +2 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574367	NM_024809.5(TCTN2):c.1577A>G (p.Tyr526Cys)	TCTN2 (Y481C +2 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574366	NM_024809.5(TCTN2):c.1570T>C (p.Ser524Pro)	TCTN2 (S479P +2 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574365	NM_024809.5(TCTN2):c.1547C>G (p.Thr516Ser)	TCTN2 (T516S +2 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574364	NM_024809.5(TCTN2):c.1545_1566dup (p.Asn523fs)	TCTN2 (N478fs +2 more)	Duplication (frameshift variant)	Joubert syndrome 24 +1 more	GLikely pathogenic
Select item 3574363	NM_024809.5(TCTN2):c.1505+4A>G	TCTN2	Single nucleotide variant (intron variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574362	NM_024809.5(TCTN2):c.1457_1458del (p.Ser486fs)	TCTN2 (S441fs +2 more)	Microsatellite (frameshift variant)	Joubert syndrome 24 +1 more	GLikely pathogenic
Select item 3574361	NM_024809.5(TCTN2):c.1445A>C (p.Glu482Ala)	TCTN2 (E437A +2 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574359	NM_024809.5(TCTN2):c.1340C>T (p.Ala447Val)	TCTN2 (A447V +2 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574358	NM_024809.5(TCTN2):c.1301C>T (p.Ser434Phe)	TCTN2 (S434F +2 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574357	NM_024809.5(TCTN2):c.1263del (p.Lys421fs)	TCTN2 (K420fs +2 more)	Deletion (frameshift variant)	Joubert syndrome 24 +1 more	GLikely pathogenic
Select item 3574356	NM_024809.5(TCTN2):c.1246_1247del (p.Gln416fs)	TCTN2 (Q416fs +2 more)	Microsatellite (frameshift variant)	Joubert syndrome 24 +1 more	GLikely pathogenic
Select item 3574355	NM_024809.5(TCTN2):c.1180A>G (p.Ile394Val)	TCTN2 (I394V +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574354	NM_024809.5(TCTN2):c.1177A>G (p.Thr393Ala)	TCTN2 (T392A +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574353	NM_024809.5(TCTN2):c.1146A>C (p.Glu382Asp)	TCTN2 (E381D +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574352	NM_024809.5(TCTN2):c.1126C>T (p.Pro376Ser)	TCTN2 (P375S +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574351	NM_024809.5(TCTN2):c.1073A>C (p.Asp358Ala)	TCTN2 (D357A +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574350	NM_024809.5(TCTN2):c.991G>A (p.Asp331Asn)	TCTN2 (D330N +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574349	NM_024809.5(TCTN2):c.916C>T (p.Gln306Ter)	TCTN2 (Q305* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 24 +1 more	GLikely pathogenic
Select item 3574348	NM_024809.5(TCTN2):c.836A>G (p.Tyr279Cys)	TCTN2 (Y278C +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574347	NM_024809.5(TCTN2):c.832G>T (p.Gly278Cys)	TCTN2 (G278C +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574346	NM_024809.5(TCTN2):c.764+2T>C	TCTN2	Single nucleotide variant (splice donor variant)	Joubert syndrome 24 +1 more	GLikely pathogenic
Select item 3574345	NM_024809.5(TCTN2):c.724G>A (p.Ala242Thr)	TCTN2 (A242T +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574344	NM_024809.5(TCTN2):c.701T>C (p.Phe234Ser)	TCTN2 (F234S +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574342	NM_024809.5(TCTN2):c.409C>G (p.Leu137Val)	TCTN2 (L137V +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574341	NM_024809.5(TCTN2):c.406C>G (p.His136Asp)	TCTN2 (H136D +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574340	NM_024809.5(TCTN2):c.359T>C (p.Leu120Pro)	TCTN2 (L119P +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574339	NM_024809.5(TCTN2):c.311G>A (p.Trp104Ter)	TCTN2 (W104* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 24 +1 more	GLikely pathogenic
Select item 3574338	NM_024809.5(TCTN2):c.287T>G (p.Val96Gly)	TCTN2 (V96G +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574337	NM_024809.5(TCTN2):c.266C>T (p.Ala89Val)	TCTN2 (A89V)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574335	NM_024809.5(TCTN2):c.223A>G (p.Asn75Asp)	TCTN2 (N75D)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574334	NM_024809.5(TCTN2):c.209C>T (p.Thr70Met)	TCTN2 (T70M)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574333	NM_024809.5(TCTN2):c.190+1del	TCTN2	Deletion (splice donor variant)	Joubert syndrome 24 +1 more	GLikely pathogenic
Select item 3574332	NM_024809.5(TCTN2):c.179A>G (p.Gln60Arg)	TCTN2 (Q60R)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574331	NM_024809.5(TCTN2):c.83-1G>A	TCTN2	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 24 +1 more	GLikely pathogenic
Select item 3574330	NM_024809.5(TCTN2):c.82+17A>G	TCTN2	Single nucleotide variant (intron variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574329	NM_024809.5(TCTN2):c.82+8C>T	TCTN2	Single nucleotide variant (intron variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3574328	NM_024809.5(TCTN2):c.4G>A (p.Gly2Ser)	TCTN2 (G2S)	Single nucleotide variant (missense variant)	Joubert syndrome 24 +1 more	GUncertain significance
Select item 3454371	NM_024809.5(TCTN2):c.1403G>A (p.Gly468Asp)	TCTN2 (G468D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3454370	NM_024809.5(TCTN2):c.1549C>T (p.His517Tyr)	TCTN2 (H516Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3454368	NM_024809.5(TCTN2):c.16C>T (p.Pro6Ser)	TCTN2 (P6S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3454367	NM_024809.5(TCTN2):c.918G>C (p.Gln306His)	TCTN2 (Q306H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3454366	NM_024809.5(TCTN2):c.1954C>G (p.Leu652Val)	TCTN2 (L652V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3454365	NM_024809.5(TCTN2):c.1865T>G (p.Ile622Ser)	TCTN2 (I621S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3454364	NM_024809.5(TCTN2):c.547C>G (p.Arg183Gly)	TCTN2 (R183G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3454362	NM_024809.5(TCTN2):c.1835C>T (p.Pro612Leu)	TCTN2 (P567L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3454361	NM_024809.5(TCTN2):c.1493G>A (p.Cys498Tyr)	TCTN2 (C497Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3389965	NM_024809.5(TCTN2):c.1794C>G (p.Tyr598Ter)	TCTN2 (Y553* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3381966	NM_024809.5(TCTN2):c.1147G>T (p.Glu383Ter)	TCTN2 (E382* +1 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 24	GPathogenic
Select item 3381965	NM_024809.5(TCTN2):c.1141_1143delinsCAACCCCTAGAATTGT (p.Val381fs)	TCTN2 (V380fs +1 more)	Indel (frameshift variant +1 more)	Joubert syndrome 24	GPathogenic
Select item 3365369	NM_024809.5(TCTN2):c.1748A>T (p.Glu583Val)	TCTN2 (E538V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3325078	NM_024809.5(TCTN2):c.1637C>T (p.Ala546Val)	TCTN2 (A501V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325077	NM_024809.5(TCTN2):c.1670G>A (p.Cys557Tyr)	TCTN2 (C512Y +2 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 8 +2 more	GUncertain significance
Select item 3325076	NM_024809.5(TCTN2):c.1900C>G (p.Gln634Glu)	TCTN2 (Q589E +2 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 8 +2 more	GUncertain significance
Select item 3244266	NC_000012.11:g.(?_124171363)_(124242579_?)del	ATP6V0A2, TCTN2	Deletion	Familial aplasia of the vermis +1 more	GPathogenic
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	CAMKK2, CCDC62 +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3175385	NM_024809.5(TCTN2):c.517T>C (p.Cys173Arg)	TCTN2 (C172R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175384	NM_024809.5(TCTN2):c.512G>T (p.Cys171Phe)	TCTN2 (C171F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175383	NM_024809.5(TCTN2):c.1764G>C (p.Glu588Asp)	TCTN2 (E587D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175382	NM_024809.5(TCTN2):c.146C>T (p.Thr49Ile)	TCTN2 (T49I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175381	NM_024809.5(TCTN2):c.146C>G (p.Thr49Ser)	TCTN2 (T49S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175380	NM_024809.5(TCTN2):c.125G>A (p.Ser42Asn)	TCTN2 (S42N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3064004	NM_024809.5(TCTN2):c.1550dup (p.His517fs)	TCTN2 (H472fs +2 more)	Duplication (frameshift variant)	Joubert syndrome and related disorders +2 more	GPathogenic/Likely pathogenic
Select item 3063256	GRCh37/hg19 12q24.31(chr12:123640263-124319101)x1	ATP6V0A2, CDK2AP1 +13 more	Copy number loss	not specified	GUncertain significance
Select item 3054101	NM_024809.5(TCTN2):c.1770-10T>C	TCTN2	Single nucleotide variant (intron variant)	TCTN2-related disorder	GLikely benign
Select item 3046902	NM_024809.5(TCTN2):c.1505+7G>A	TCTN2	Single nucleotide variant (intron variant)	TCTN2-related disorder	GLikely benign
Select item 3035596	NM_024809.5(TCTN2):c.1878A>G (p.Leu626=)	TCTN2	Single nucleotide variant (synonymous variant)	TCTN2-related disorder	GLikely benign
Select item 3024579	GRCh37/hg19 12q24.31(chr12:124114716-124192779)x3	EIF2B1, GTF2H3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2954168	NM_024809.5(TCTN2):c.1088T>C (p.Ile363Thr)	TCTN2 (I363T +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2951602	NM_024809.5(TCTN2):c.1083A>G (p.Lys361=)	TCTN2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2950823	NM_024809.5(TCTN2):c.1312+1G>C	TCTN2	Single nucleotide variant (splice donor variant)	Familial aplasia of the vermis +1 more	GLikely pathogenic
Select item 2950428	NM_024809.5(TCTN2):c.2020C>T (p.Leu674=)	TCTN2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2950425	NM_024809.5(TCTN2):c.210G>A (p.Thr70=)	TCTN2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2950006	NM_024809.5(TCTN2):c.1099+8del	TCTN2	Deletion (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2948283	NM_024809.5(TCTN2):c.764+17C>T	TCTN2	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2948251	NM_024809.5(TCTN2):c.1293A>G (p.Glu431=)	TCTN2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2946521	NM_024809.5(TCTN2):c.481C>T (p.Pro161Ser)	TCTN2 (P161S +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2945459	NM_024809.5(TCTN2):c.543T>C (p.Asp181=)	TCTN2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2945144	NM_024809.5(TCTN2):c.191-19G>T	TCTN2	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2942437	NM_024809.5(TCTN2):c.898del (p.Leu300fs)	TCTN2 (L300fs +1 more)	Deletion (frameshift variant)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2942109	NM_024809.5(TCTN2):c.464-8C>G	TCTN2	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2942036	NM_024809.5(TCTN2):c.765-20C>G	TCTN2	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2941764	NM_024809.5(TCTN2):c.464-13G>A	TCTN2	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2941610	NM_024809.5(TCTN2):c.191-12T>G	TCTN2	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2941402	NM_024809.5(TCTN2):c.545T>C (p.Val182Ala)	TCTN2 (V181A +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance

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