List of variants in gene TCTN3 reported as pathogenic for central nervous system malformation

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_015631.6(TCTN3):c.1327C>T (p.Gln443Ter)	rs387907273	0.00004
NM_015631.6(TCTN3):c.1520dup (p.Gly508fs)	rs755903123	0.00004
NM_015631.6(TCTN3):c.1068dup (p.Gln357fs)	rs2492748621	0.00003
NM_015631.6(TCTN3):c.793dup (p.Ser265fs)	rs2492760878	0.00001
NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter)	rs764091969	0.00001
NM_015631.6(TCTN3):c.940G>T (p.Gly314Ter)	rs793888508	0.00001
NC_000010.10:g.(?_97452751)_(97453767_?)del
NC_000010.11:g.95682805del
NM_015631.6(TCTN3):c.1164dup (p.Lys389fs)	rs763557318
NM_015631.6(TCTN3):c.1206dup (p.Thr403fs)	rs2492743120
NM_015631.6(TCTN3):c.1226del (p.Gly409fs)	rs747710152
NM_015631.6(TCTN3):c.1348_1349del (p.Leu450fs)	rs768525869
NM_015631.6(TCTN3):c.1367_1370dup (p.Glu457fs)	rs2492740075
NM_015631.6(TCTN3):c.1423_1429del (p.Arg475fs)	rs1589613893
NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer)	rs553175533
NM_015631.6(TCTN3):c.338_341del (p.His113fs)	rs761798713
NM_015631.6(TCTN3):c.371_372del (p.Gly124fs)	rs2492790282
NM_015631.6(TCTN3):c.412_413del (p.Val138fs)	rs2097955017
NM_015631.6(TCTN3):c.650_653del (p.Tyr217fs)	rs749018985
NM_015631.6(TCTN3):c.710del (p.Gly237fs)	rs779729881
NM_015631.6(TCTN3):c.717_718del (p.Cys239_Ala240insTer)	rs1276774121
NM_015631.6(TCTN3):c.737_738insC (p.Leu248fs)	rs2492761413
NM_015631.6(TCTN3):c.754del (p.Ser252fs)	rs2139749042
NM_015631.6(TCTN3):c.776dup (p.Lys260fs)	rs750644251
NM_015631.6(TCTN3):c.851dup (p.Val285fs)	rs1202783767
NM_015631.6(TCTN3):c.853-1G>T
NM_015631.6(TCTN3):c.908_911del (p.Leu303fs)	rs2139744863
NM_015631.6(TCTN3):c.910dup (p.Thr304fs)	rs1157302392
NM_015631.6(TCTN3):c.920_941del (p.Ala307fs)	rs2492753291
NM_015631.6(TCTN3):c.940G>A (p.Gly314Arg)	rs793888508

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