"GeneDx"[submitter] AND "TCTN3"[gene] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 59401	GRCh38/hg38 10q24.1(chr10:95606298-95966000)x1	C10orf131, CC2D2B +24 more	Copy number loss	See cases	GUncertain significance
Select item 1236989	NM_015631.6(TCTN3):c.*116G>T	TCTN3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1236793	NM_015631.6(TCTN3):c.*45T>C	TCTN3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 194415	NM_015631.6(TCTN3):c.1774C>G (p.Leu592Val)	TCTN3 (L592V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 386676	NM_015631.6(TCTN3):c.1764C>T (p.Val588=)	TCTN3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 499913	NM_015631.6(TCTN3):c.1591-5C>T	TCTN3	Single nucleotide variant (intron variant)	Orofacial-digital syndrome IV +3 more	GConflicting classifications of pathogenicity
Select item 515182	NM_015631.6(TCTN3):c.1591-12T>C	TCTN3	Single nucleotide variant (intron variant)	Orofacial-digital syndrome IV +2 more	GLikely benign
Select item 1247127	NM_015631.6(TCTN3):c.1591-169del	TCTN3	Deletion (intron variant)	not provided	GBenign
Select item 1193138	NM_015631.6(TCTN3):c.1590+224del	TCTN3	Deletion (intron variant)	not provided	GLikely benign
Select item 1295980	NM_015631.6(TCTN3):c.1590+185dup	TCTN3	Duplication (intron variant)	not provided	GBenign
Select item 1260676	NM_015631.6(TCTN3):c.1590+128_1590+130del	TCTN3	Deletion (intron variant)	not provided	GBenign
Select item 670230	NM_015631.6(TCTN3):c.1590+125_1590+126insCC	TCTN3	Insertion (intron variant)	not provided	GBenign
Select item 676677	NM_015631.6(TCTN3):c.1590+123T>C	TCTN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235697	NM_015631.6(TCTN3):c.1590+70C>T	TCTN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 391622	NM_015631.6(TCTN3):c.1575G>A (p.Gln525=)	TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +2 more	GLikely benign
Select item 385908	NM_015631.6(TCTN3):c.1567C>T (p.Leu523=)	TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +2 more	GLikely benign
Select item 423293	NM_015631.6(TCTN3):c.1537C>T (p.Pro513Ser)	TCTN3 (P513S +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +2 more	GUncertain significance
Select item 675045	NM_015631.6(TCTN3):c.1453-28A>G	TCTN3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1259850	NM_015631.6(TCTN3):c.1453-128del	TCTN3	Deletion (intron variant)	not provided	GBenign
Select item 1291685	NM_015631.6(TCTN3):c.1453-187_1453-186dup	TCTN3	Duplication (intron variant)	not provided	GBenign
Select item 1258474	NM_015631.6(TCTN3):c.1453-187dup	TCTN3	Duplication (intron variant)	not provided	GBenign
Select item 670229	NM_015631.6(TCTN3):c.1453-206C>G	TCTN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672423	NM_015631.6(TCTN3):c.1453-325G>T	TCTN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272410	NM_015631.6(TCTN3):c.1452+232C>T	TCTN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295585	NM_015631.6(TCTN3):c.1452+175T>C	TCTN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675213	NM_015631.6(TCTN3):c.1452+100A>G	TCTN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 383719	NM_015631.6(TCTN3):c.1425G>A (p.Arg475=)	TCTN3	Single nucleotide variant (synonymous variant)	Orofacial-digital syndrome IV +2 more	GLikely benign
Select item 679648	NM_015631.6(TCTN3):c.1298+90T>C	TCTN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204410	NM_015631.6(TCTN3):c.1298+57T>A	TCTN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674960	NM_015631.6(TCTN3):c.1204-43T>C	TCTN3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1506064	NM_015631.6(TCTN3):c.1138A>G (p.Ser380Gly)	TCTN3 (S380G +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +2 more	GUncertain significance
Select item 1269012	NM_015631.6(TCTN3):c.1096-340dup	TCTN3	Duplication (intron variant)	not provided	GBenign
Select item 1199857	NM_015631.6(TCTN3):c.1096-340_1096-339insA	TCTN3	Insertion (intron variant)	not provided	GLikely benign
Select item 1208077	NM_015631.6(TCTN3):c.1070A>G (p.Gln357Arg)	TCTN3 (Q357R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1806830	NM_015631.6(TCTN3):c.1048G>A (p.Val350Ile)	TCTN3 (V323I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 212390	NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg)	TCTN3 (G344R)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 670228	NM_015631.6(TCTN3):c.970-222G>A	TCTN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452751	NM_015631.6(TCTN3):c.959T>C (p.Val320Ala)	TCTN3 (V320A)	Single nucleotide variant (missense variant +1 more)	Orofacial-digital syndrome IV +2 more	GConflicting classifications of pathogenicity
Select item 540484	NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala)	TCTN3 (T316A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 130579	NM_015631.6(TCTN3):c.925G>T (p.Ala309Ser)	TCTN3 (A309S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 515128	NM_015631.6(TCTN3):c.889-8G>A	TCTN3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 679647	NM_015631.6(TCTN3):c.889-89A>C	TCTN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230630	NM_015631.6(TCTN3):c.889-120AG[5]	TCTN3	Microsatellite (intron variant)	not provided	GBenign
Select item 674959	NM_015631.6(TCTN3):c.888+46C>T	TCTN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1307106	NM_015631.6(TCTN3):c.878A>G (p.Gln293Arg)	TCTN3 (Q214R +1 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +2 more	GUncertain significance
Select item 1806826	NM_015631.6(TCTN3):c.830A>G (p.Tyr277Cys)	TCTN3 (Y198C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1191888	NM_015631.6(TCTN3):c.811G>A (p.Ala271Thr)	TCTN3 (A192T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 130578	NM_015631.6(TCTN3):c.630T>C (p.Ala210=)	TCTN3	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1194881	NM_015631.6(TCTN3):c.627+97C>T	TCTN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201362	NM_015631.6(TCTN3):c.627+50C>T	TCTN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 130577	NM_015631.6(TCTN3):c.603T>A (p.Thr201=)	TCTN3	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 506786	NM_015631.6(TCTN3):c.500-6T>C	TCTN3	Single nucleotide variant (intron variant)	Orofacial-digital syndrome IV +3 more	GBenign/Likely benign
Select item 260669	NM_015631.6(TCTN3):c.500-11A>T	TCTN3	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1308872	NM_015631.6(TCTN3):c.390C>G (p.Ser130Arg)	TCTN3 (S130R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1219965	NM_015631.6(TCTN3):c.380+150T>A	TCTN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1311313	NM_015631.6(TCTN3):c.329A>G (p.Tyr110Cys)	TCTN3 (Y110C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260668	NM_015631.6(TCTN3):c.280T>C (p.Leu94=)	TCTN3	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1216405	NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer)	TCTN3	Microsatellite (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3366055	NM_015631.6(TCTN3):c.260_265delinsGTG (p.Leu87_Ile89delinsCysVal)	TCTN3	Indel (inframe_indel)	not provided	GUncertain significance
Select item 1068015	NM_015631.6(TCTN3):c.256+2_256+7del	LOC130004408, TCTN3	Deletion (splice donor variant)	not provided +3 more	GLikely pathogenic
Select item 212392	NM_015631.6(TCTN3):c.224C>T (p.Ala75Val)	LOC130004408, TCTN3 (A75V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 506607	NM_015631.6(TCTN3):c.211G>T (p.Val71Leu)	TCTN3, LOC130004408 (V71L)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +2 more	GBenign/Likely benign
Select item 130576	NM_015631.6(TCTN3):c.193A>C (p.Thr65Pro)	LOC130004408, TCTN3 (T65P)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1496697	NM_015631.6(TCTN3):c.178G>A (p.Val60Met)	LOC130004408, TCTN3 (V60M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 389004	NM_015631.6(TCTN3):c.159G>A (p.Ala53=)	LOC130004408, TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +2 more	GLikely benign
Select item 511205	NM_015631.6(TCTN3):c.153A>G (p.Ser51=)	LOC130004408, TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +2 more	GLikely benign
Select item 1312043	NM_015631.6(TCTN3):c.43G>T (p.Val15Leu)	LOC130004408, TCTN3 (V15L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303746	NM_015631.6(TCTN3):c.41T>C (p.Leu14Pro)	LOC130004408, TCTN3 (L14P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313690	NM_015631.6(TCTN3):c.36C>G (p.Phe12Leu)	LOC130004408, TCTN3 (F12L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260667	NM_015631.6(TCTN3):c.21G>A (p.Ala7=)	LOC130004408, TCTN3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 217703	NM_015631.6(TCTN3):c.3G>A (p.Met1Ile)	LOC130004408, TCTN3 (M1I)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 18 +3 more	GPathogenic/Likely pathogenic
Select item 379441	NM_015631.5(TCTN3):c.-47T>G	TCTN3	Single nucleotide variant	not specified +1 more	GBenign
Select item 1217817	NC_000010.11:g.95694002G>T	TCTN3	Single nucleotide variant	not provided	GLikely benign
Select item 1193195	NC_000010.11:g.95694085T>C	TCTN3	Single nucleotide variant	not provided	GLikely benign
Select item 1179861	NC_000010.11:g.95694088G>T	TCTN3	Single nucleotide variant	not provided	GBenign
Select item 1210751	NC_000010.11:g.95694122G>T	TCTN3	Single nucleotide variant	not provided	GLikely benign
Select item 673866	NM_015631.5(TCTN3):c.-296C>T	ENTPD1, TCTN3	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1204246	NC_000010.11:g.95694421del	ENTPD1, TCTN3	Deletion	not provided	GLikely benign
Select item 1231867	NC_000010.11:g.95694421T>A	ENTPD1, TCTN3	Single nucleotide variant	not provided	GBenign
Select item 1280603	NC_000010.11:g.95694433_95694435del	ENTPD1, TCTN3	Deletion	not provided	GBenign
Select item 1273184	NC_000010.11:g.95694422A>T	TCTN3, ENTPD1	Single nucleotide variant	not provided	GBenign
Select item 1228517	NC_000010.11:g.95694435del	ENTPD1, TCTN3	Deletion	not provided	GBenign
Select item 1227410	NC_000010.11:g.95694423A>T	ENTPD1, TCTN3	Single nucleotide variant	not provided	GBenign
Select item 1276508	NC_000010.11:g.95694424_95694425insTT	ENTPD1, TCTN3	Insertion	not provided	GBenign

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Items: 86