TCTN1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 438

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 307200	NM_001082538.2(TCTN1):c.-140A>G	TCTN1	Single nucleotide variant	Joubert syndrome 13	GUncertain significance
Select item 307201	NM_001082538.2(TCTN1):c.-84T>C	TCTN1	Single nucleotide variant	Joubert syndrome 13	GUncertain significance
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 257396	NM_001082538.3(TCTN1):c.-19C>A	TCTN1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	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 257397	NM_001082538.3(TCTN1):c.-8C>T	TCTN1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 1436254	NM_001082538.3(TCTN1):c.8C>T (p.Pro3Leu)	TCTN1 (P3L)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 699112	NM_001082538.3(TCTN1):c.9G>T (p.Pro3=)	TCTN1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 307203	NM_001082538.3(TCTN1):c.14G>A (p.Gly5Asp)	TCTN1 (G5D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 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 1489973	NM_001082538.3(TCTN1):c.19C>T (p.Pro7Ser)	TCTN1 (P7S)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 696393	NM_001082538.3(TCTN1):c.21G>T (p.Pro7=)	TCTN1	Single nucleotide variant (synonymous variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1637877	NM_001082538.3(TCTN1):c.24G>A (p.Pro8=)	TCTN1	Single nucleotide variant (synonymous variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1252089	NM_001082538.3(TCTN1):c.32_43del (p.Val11_Leu14del)	TCTN1	Deletion (inframe_deletion +2 more)	not specified +1 more	GUncertain significance
Select item 1033279	NM_001082538.3(TCTN1):c.26_29dup (p.Val11fs)	TCTN1 (V11fs)	Duplication (frameshift variant +2 more)	Joubert syndrome 13	GPathogenic
Select item 1428271	NM_001082538.3(TCTN1):c.37C>T (p.Leu13Phe)	TCTN1 (L13F)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2031272	NM_001082538.3(TCTN1):c.39C>G (p.Leu13=)	TCTN1	Single nucleotide variant (synonymous variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1664315	NM_001082538.3(TCTN1):c.54C>T (p.Ala18=)	TCTN1	Single nucleotide variant (synonymous variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1624557	NM_001082538.3(TCTN1):c.57C>T (p.Ser19=)	TCTN1	Single nucleotide variant (synonymous variant +2 more)	Familial aplasia of the vermis +1 more	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 1007959	NM_001082538.3(TCTN1):c.83C>T (p.Pro28Leu)	TCTN1 (P28L)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
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 1509640	NM_001082538.3(TCTN1):c.84G>A (p.Pro28=)	TCTN1	Single nucleotide variant (synonymous variant +2 more)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 1449296	NM_001082538.3(TCTN1):c.113C>G (p.Thr38Ser)	TCTN1 (T38S)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +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 1979634	NM_001082538.3(TCTN1):c.121G>T (p.Ala41Ser)	TCTN1 (A41S)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1469573	NM_001082538.3(TCTN1):c.125T>C (p.Leu42Pro)	TCTN1 (L42P)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
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 1385873	NM_001082538.3(TCTN1):c.146C>G (p.Pro49Arg)	TCTN1 (P49R)	Single nucleotide variant (missense variant +2 more)	TCTN1-related disorder +2 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 1374749	NM_001082538.3(TCTN1):c.156del (p.Arg52fs)	TCTN1 (R52fs)	Deletion (frameshift variant +2 more)	Meckel-Gruber syndrome +1 more	GPathogenic
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 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 1637777	NM_001082538.3(TCTN1):c.162C>T (p.Pro54=)	TCTN1	Single nucleotide variant (synonymous variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
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 1381665	NM_001082538.3(TCTN1):c.167C>T (p.Thr56Ile)	TCTN1 (T56I)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1516849	NM_001082538.3(TCTN1):c.169C>T (p.Pro57Ser)	TCTN1 (P57S)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
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 1622686	NM_001082538.3(TCTN1):c.198C>T (p.Pro66=)	TCTN1	Single nucleotide variant (synonymous variant +2 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 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 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 2000289	NM_001082538.3(TCTN1):c.210dup (p.Val71fs)	TCTN1 (V71fs)	Duplication (frameshift variant +2 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 307204	NM_001082538.3(TCTN1):c.211G>A (p.Val71Ile)	TCTN1 (V71I)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 13 +3 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 838749	NM_001082538.3(TCTN1):c.219C>G (p.Asp73Glu)	TCTN1 (D73E)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1944594	NM_001082538.3(TCTN1):c.220+10A>C	LOC130008755, TCTN1 (M1L)	Single nucleotide variant (missense variant +3 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 2046392	NM_001082538.3(TCTN1):c.220+12dup	LOC130008755, TCTN1 (C2fs)	Duplication (frameshift variant +3 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 160096	NM_001082538.3(TCTN1):c.220+12G>C	LOC130008755, TCTN1 (M1I)	Single nucleotide variant (missense variant +3 more)	Joubert syndrome 13 +4 more	GBenign/Likely benign
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 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 1600114	NM_001082538.3(TCTN1):c.221-7dup	TCTN1	Duplication (intron variant)	Familial aplasia of the vermis +1 more	GBenign
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 1546252	NM_001082538.3(TCTN1):c.221-12T>C	TCTN1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 30803	NM_001082538.3(TCTN1):c.221-2A>G	TCTN1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1706556	NM_001082538.3(TCTN1):c.224C>T (p.Ala75Val)	TCTN1 (A15V +2 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 13	GUncertain significance
Select item 570540	NM_001082538.3(TCTN1):c.232T>C (p.Cys78Arg)	TCTN1 (C78R +2 more)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1500710	NM_001082538.3(TCTN1):c.233G>A (p.Cys78Tyr)	TCTN1 (C78Y +2 more)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1446129	NM_001082538.3(TCTN1):c.233G>C (p.Cys78Ser)	TCTN1 (C18S +2 more)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
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 1643260	NM_001082538.3(TCTN1):c.237C>G (p.Val79=)	TCTN1	Single nucleotide variant (synonymous variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1114724	NM_001082538.3(TCTN1):c.249C>T (p.Ser83=)	TCTN1	Single nucleotide variant (synonymous variant +2 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
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 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 2181362	NM_001082538.3(TCTN1):c.262G>A (p.Asp88Asn)	TCTN1 (D88N +2 more)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1529525	NM_001082538.3(TCTN1):c.264C>T (p.Asp88=)	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 257399	NM_001082538.3(TCTN1):c.285C>T (p.Pro95=)	TCTN1	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GLikely benign
Select item 1385791	NM_001082538.3(TCTN1):c.286G>A (p.Asp96Asn)	TCTN1 (D36N +2 more)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
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 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 1551640	NM_001082538.3(TCTN1):c.297C>T (p.Ser99=)	TCTN1	Single nucleotide variant (synonymous variant +2 more)	Meckel-Gruber syndrome +1 more	GLikely benign
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 655667	NM_001082538.3(TCTN1):c.305T>G (p.Phe102Cys)	TCTN1 (F102C +2 more)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1713887	NM_001082538.3(TCTN1):c.316T>C (p.Ser106Pro)	TCTN1 (S106P +2 more)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 307205	NM_001082538.3(TCTN1):c.327A>G (p.Ser109=)	TCTN1	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 13 +2 more	GBenign/Likely benign
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 1037880	NM_001082538.3(TCTN1):c.334G>C (p.Val112Leu)	TCTN1 (V112L +2 more)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1439078	NM_001082538.3(TCTN1):c.341C>T (p.Thr114Met)	TCTN1 (T54M +2 more)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GUncertain significance
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 1623318	NM_001082538.3(TCTN1):c.341+10C>T	TCTN1	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1170191	NM_001082538.3(TCTN1):c.341+11G>A	TCTN1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GBenign
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 1951755	NM_001082538.3(TCTN1):c.341+20A>G	TCTN1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
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 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 1990609	NM_001082538.3(TCTN1):c.342-17del	TCTN1	Deletion (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign

<< First< Prev

Page of 5