"GeneDx"[submitter] AND "TCTN1"[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 307202	NM_001082538.3(TCTN1):c.-46G>C	TCTN1	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 13 +1 more	GLikely benign
Select item 681543	NM_001082538.3(TCTN1):c.-14G>A	TCTN1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 160096	NM_001082538.3(TCTN1):c.220+12G>C	LOC130008755, TCTN1 (M1I)	Single nucleotide variant (missense variant +3 more)	not specified +4 more	GBenign/Likely benign
Select item 670706	NM_001082538.3(TCTN1):c.220+258T>A	TCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296238	NM_001082538.3(TCTN1):c.220+1855_220+1856insA	TCTN1	Insertion (intron variant)	not provided	GBenign
Select item 1195755	NM_001082538.3(TCTN1):c.220+1855T>A	TCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200495	NM_001082538.3(TCTN1):c.220+1856T>A	TCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278935	NM_001082538.3(TCTN1):c.220+2248C>G	TCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201955	NM_001082538.3(TCTN1):c.221-49C>T	TCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1306274	NM_001082538.3(TCTN1):c.292A>G (p.Ser98Gly)	TCTN1 (S38G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 257400	NM_001082538.3(TCTN1):c.298G>A (p.Val100Met)	TCTN1 (V100M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1186116	NM_001082538.3(TCTN1):c.341+1G>A	TCTN1	Single nucleotide variant (splice donor variant)	not provided +3 more	GLikely pathogenic
Select item 160097	NM_001082538.3(TCTN1):c.341+46G>T	TCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243444	NM_001082538.3(TCTN1):c.341+135C>T	TCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216687	NM_001082538.3(TCTN1):c.341+189C>T	TCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674286	NM_001082538.3(TCTN1):c.341+313A>G	TCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675106	NM_001082538.3(TCTN1):c.342-110C>T	TCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1905672	NM_001082538.3(TCTN1):c.395C>T (p.Thr132Ile)	TCTN1 (T76I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 675107	NM_001082538.3(TCTN1):c.472+96T>C	TCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673284	NM_001082538.3(TCTN1):c.472+308C>T	TCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225923	NM_001082538.3(TCTN1):c.472+309G>A	TCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 449853	NM_001082538.3(TCTN1):c.473-20_473-19del	TCTN1	Deletion (intron variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 1168485	NM_001082538.3(TCTN1):c.473-10dup	TCTN1	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 160098	NM_001082538.3(TCTN1):c.473-10T>A	TCTN1	Single nucleotide variant (intron variant)	Joubert syndrome 13 +4 more	GBenign
Select item 93534	NM_001082538.3(TCTN1):c.473-6_473-4del	TCTN1	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 197179	NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr)	TCTN1 (S163Y +2 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 13 +4 more	GBenign/Likely benign
Select item 1696869	NM_001082538.3(TCTN1):c.568G>T (p.Glu190Ter)	TCTN1 (E12* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 674287	NM_001082538.3(TCTN1):c.624+275A>G	TCTN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 675108	NM_001082538.3(TCTN1):c.625-108G>C	TCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1432840	NM_001082538.3(TCTN1):c.671C>T (p.Ser224Leu)	TCTN1 (S224L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 696538	NM_001082538.3(TCTN1):c.672G>A (p.Ser224=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 212385	NM_001082538.3(TCTN1):c.699TAA[1] (p.Asn235del)	TCTN1 (N235del +3 more)	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1237254	NM_001082538.3(TCTN1):c.712+185C>T	TCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 947943	NM_001082538.3(TCTN1):c.713-2A>G	TCTN1	Single nucleotide variant (splice acceptor variant +1 more)	Familial aplasia of the vermis +2 more	GLikely pathogenic
Select item 506600	NM_001082538.3(TCTN1):c.810G>A (p.Pro270=)	TCTN1	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GLikely benign
Select item 675109	NM_001082538.3(TCTN1):c.822+57G>A	TCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195692	NM_001082538.3(TCTN1):c.822+68A>G	TCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674414	NM_001082538.3(TCTN1):c.822+235T>C	TCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1520532	NM_001082538.3(TCTN1):c.823-3T>A	TCTN1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1207816	NM_001082538.3(TCTN1):c.843+294C>G	TCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 160099	NM_001082538.3(TCTN1):c.894C>T (p.Leu298=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 13 +4 more	GBenign
Select item 307208	NM_001082538.3(TCTN1):c.960C>T (p.Cys320=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 265265	NM_001082538.3(TCTN1):c.978+1G>T	TCTN1	Single nucleotide variant (splice donor variant)	Joubert syndrome 13 +1 more	GPathogenic/Likely pathogenic
Select item 1272048	NM_001082538.3(TCTN1):c.978+81C>A	TCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1017189	NM_001082538.3(TCTN1):c.1086T>G (p.Phe362Leu)	TCTN1 (F184L +4 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 1194654	NM_001082538.3(TCTN1):c.1190+45A>G	TCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209181	NM_001082538.3(TCTN1):c.1191-259C>T	TCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191720	NM_001082538.3(TCTN1):c.1191-69A>T	TCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 93533	NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val)	TCTN1 (I398V +3 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +4 more	GBenign/Likely benign
Select item 461755	NM_001082538.3(TCTN1):c.1291G>C (p.Val431Leu)	TCTN1 (V417L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1206429	NM_001082538.3(TCTN1):c.1304A>G (p.Tyr435Cys)	TCTN1 (Y257C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1223521	NM_001082538.3(TCTN1):c.1332-260C>T	TCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675110	NM_001082538.3(TCTN1):c.1332-88C>T	TCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 160094	NM_001082538.3(TCTN1):c.1332-35G>C	TCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 194021	NM_001082538.3(TCTN1):c.1379G>C (p.Ser460Thr)	TCTN1 (S446T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 373177	NM_001082538.3(TCTN1):c.1387T>C (p.Trp463Arg)	TCTN1 (W449R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 160095	NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys)	TCTN1 (G452C +5 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 13 +4 more	GBenign
Select item 194020	NM_001082538.3(TCTN1):c.1410C>T (p.Tyr470=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 631669	NM_001082538.3(TCTN1):c.1418del (p.Pro473fs)	TCTN1 (P295fs +5 more)	Deletion (frameshift variant +1 more)	Joubert syndrome 13 +4 more	GConflicting classifications of pathogenicity
Select item 194019	NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe)	TCTN1 (I477F +5 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 13 +4 more	GConflicting classifications of pathogenicity
Select item 675111	NM_001082538.3(TCTN1):c.1494+69C>T	TCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670705	NM_001082538.3(TCTN1):c.1494+150G>T	TCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185897	NM_001082538.3(TCTN1):c.1495-240C>T	TCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 194193	NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=)	TCTN1	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +2 more	GConflicting classifications of pathogenicity
Select item 673155	NM_001082538.3(TCTN1):c.1635+165C>T	TCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188453	NM_001082538.3(TCTN1):c.1636-186C>T	TCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191859	NM_001082538.3(TCTN1):c.1636-152C>T	TCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 445373	NM_001082538.3(TCTN1):c.1636-18TC[2]	TCTN1	Microsatellite (intron variant)	Meckel-Gruber syndrome +2 more	GBenign/Likely benign
Select item 1427975	NM_001082538.3(TCTN1):c.1658C>T (p.Thr553Met)	TCTN1 (T444M +6 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 672227	NM_001082538.3(TCTN1):c.1+182A>G	TCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211537	NM_001082538.3(TCTN1):c.*1+226C>T	TCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261522	NM_001082538.3(TCTN1):c.*1+287A>G	TCTN1	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 72