ClinVar for MedGen (Select 766672) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 423

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242117	NM_015631.6(TCTN3):c.1499T>G (p.Ile500Ser)	TCTN3 (I352S +3 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18	GUncertain significance
Select item 2953560	NM_015631.6(TCTN3):c.851dup (p.Val285fs)	TCTN3 (V206fs +1 more)	Duplication (frameshift variant)	Joubert syndrome 18 +1 more	GPathogenic
Select item 2953517	NM_015631.6(TCTN3):c.1816A>G (p.Thr606Ala)	TCTN3 (T606A +3 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 2951419	NM_015631.6(TCTN3):c.737-18del	TCTN3	Deletion (intron variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2950784	NM_015631.6(TCTN3):c.585C>T (p.Phe195=)	TCTN3	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2950680	NM_015631.6(TCTN3):c.1602A>G (p.Gln534=)	TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2950554	NM_015631.6(TCTN3):c.228T>G (p.Pro76=)	LOC130004408, TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2950265	NM_015631.6(TCTN3):c.371_372del (p.Gly124fs)	TCTN3 (G124fs)	Deletion (frameshift variant)	Joubert syndrome 18 +1 more	GPathogenic
Select item 2949397	NM_015631.6(TCTN3):c.1065C>G (p.Ser355=)	TCTN3	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2947432	NM_015631.6(TCTN3):c.774T>C (p.Phe258=)	TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2946329	NM_015631.6(TCTN3):c.1367_1370dup (p.Glu457fs)	TCTN3 (E425fs +2 more)	Duplication (frameshift variant)	Joubert syndrome 18 +1 more	GPathogenic
Select item 2946239	NM_015631.6(TCTN3):c.2T>A (p.Met1Lys)	LOC130004408, TCTN3 (M1K +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 18 +1 more	GPathogenic
Select item 2945310	NM_015631.6(TCTN3):c.628-14T>C	TCTN3	Single nucleotide variant (intron variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2944414	NM_015631.6(TCTN3):c.162T>A (p.Thr54=)	LOC130004408, TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2943001	NM_015631.6(TCTN3):c.1096-17C>T	TCTN3	Single nucleotide variant (intron variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2942335	NM_015631.6(TCTN3):c.936G>A (p.Leu312=)	TCTN3	Single nucleotide variant (intron variant +1 more)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 2941663	NM_015631.6(TCTN3):c.1096-5T>G	TCTN3	Single nucleotide variant (intron variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2941117	NM_015631.6(TCTN3):c.737-1G>C	TCTN3	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 18 +1 more	GLikely pathogenic
Select item 2940998	NM_015631.6(TCTN3):c.1204-14C>T	TCTN3	Single nucleotide variant (intron variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2940536	NM_015631.6(TCTN3):c.198G>A (p.Val66=)	TCTN3, LOC130004408	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2939968	NM_015631.6(TCTN3):c.256+11A>G	LOC130004408, TCTN3	Single nucleotide variant (intron variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2938761	NM_015631.6(TCTN3):c.381-13T>A	TCTN3	Single nucleotide variant (intron variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2937302	NM_015631.6(TCTN3):c.380+16C>A	TCTN3	Single nucleotide variant (intron variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2936574	NM_015631.6(TCTN3):c.132C>T (p.Gly44=)	LOC130004408, TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2934916	NM_015631.6(TCTN3):c.853-2A>G	TCTN3	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 18 +1 more	GLikely pathogenic
Select item 2934805	NM_015631.6(TCTN3):c.1812A>G (p.Leu604=)	TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2934526	NM_015631.6(TCTN3):c.264G>T (p.Pro88=)	TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2934384	NM_015631.6(TCTN3):c.1680C>G (p.Pro560=)	TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2934212	NM_015631.6(TCTN3):c.1347T>A (p.Thr449=)	TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2933904	NM_015631.6(TCTN3):c.1415G>A (p.Gly472Glu)	TCTN3 (G440E +3 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 2933858	NM_015631.6(TCTN3):c.843A>G (p.Thr281=)	TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2931397	NM_015631.6(TCTN3):c.1298+8T>C	TCTN3	Single nucleotide variant (intron variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2929417	NM_015631.6(TCTN3):c.1298+12C>T	TCTN3	Single nucleotide variant (intron variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2928523	NM_015631.6(TCTN3):c.165A>C (p.Ala55=)	LOC130004408, TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2928004	NM_015631.6(TCTN3):c.888+13T>C	TCTN3	Single nucleotide variant (intron variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2927763	NM_015631.6(TCTN3):c.736+19T>C	TCTN3	Single nucleotide variant (intron variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2927732	NM_015631.6(TCTN3):c.28C>T (p.Gln10Ter)	TCTN3, LOC130004408 (Q28* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 18 +1 more	GPathogenic
Select item 2926813	NM_015631.6(TCTN3):c.480T>C (p.Phe160=)	TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2926651	NM_015631.6(TCTN3):c.960A>G (p.Val320=)	TCTN3	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2923949	NM_015631.6(TCTN3):c.1548T>C (p.His516=)	TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2923652	NM_015631.6(TCTN3):c.1192A>G (p.Ile398Val)	TCTN3 (I398V +3 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 2921685	NM_015631.6(TCTN3):c.381-9T>C	TCTN3	Single nucleotide variant (intron variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2427969	NM_015631.6(TCTN3):c.907C>T (p.Leu303Phe)	TCTN3 (L303F +1 more)	Single nucleotide variant (missense variant +1 more)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 2426202	NC_000010.10:g.(?_97442388)_(97516032_?)dup	ENTPD1, TCTN3	Duplication	Joubert syndrome 18 +1 more	GUncertain significance
Select item 2421220	NM_015631.6(TCTN3):c.1299-4A>G	TCTN3	Single nucleotide variant (intron variant)	Orofacial-digital syndrome IV +1 more	GLikely benign
Select item 2417568	NM_015631.6(TCTN3):c.1758C>T (p.Cys586=)	TCTN3	Single nucleotide variant (synonymous variant)	Orofacial-digital syndrome IV +1 more	GLikely benign
Select item 2416659	NM_015631.6(TCTN3):c.1224_1226del (p.Gln408_Gly409delinsHis)	TCTN3	Deletion (inframe_indel)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 2413854	NM_015631.6(TCTN3):c.737_738insC (p.Leu248fs)	TCTN3 (L169fs +1 more)	Insertion (frameshift variant)	Joubert syndrome 18 +1 more	GPathogenic
Select item 2201166	NM_015631.6(TCTN3):c.776dup (p.Lys260fs)	TCTN3 (K181fs +1 more)	Duplication (frameshift variant)	Orofacial-digital syndrome IV +1 more	GPathogenic
Select item 2199441	NM_015631.6(TCTN3):c.56G>A (p.Gly19Asp)	LOC130004408, TCTN3 (G19D +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 2199048	NM_015631.6(TCTN3):c.1068dup (p.Gln357fs)	TCTN3 (Q357fs)	Duplication (frameshift variant +1 more)	Joubert syndrome 18 +1 more	GPathogenic
Select item 2196546	NM_015631.6(TCTN3):c.48C>A (p.Phe16Leu)	LOC130004408, TCTN3 (F34L +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 2196146	NM_015631.6(TCTN3):c.380+16C>T	TCTN3	Single nucleotide variant (intron variant)	Orofacial-digital syndrome IV +1 more	GLikely benign
Select item 2196145	NM_015631.6(TCTN3):c.78C>T (p.Ser26=)	LOC130004408, TCTN3	Single nucleotide variant (synonymous variant)	Orofacial-digital syndrome IV +1 more	GLikely benign
Select item 2194118	NM_015631.6(TCTN3):c.994G>A (p.Gly332Arg)	TCTN3 (G305R +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 2193739	NM_015631.6(TCTN3):c.1164dup (p.Lys389fs)	TCTN3 (K241fs +1 more)	Duplication (frameshift variant)	Joubert syndrome 18 +1 more	GPathogenic
Select item 2192252	NM_015631.6(TCTN3):c.367C>A (p.Pro123Thr)	TCTN3 (P123T +1 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 2191806	NM_015631.6(TCTN3):c.1008C>A (p.Ile336=)	TCTN3	Single nucleotide variant (synonymous variant +1 more)	Orofacial-digital syndrome IV +1 more	GLikely benign
Select item 2187617	NM_015631.6(TCTN3):c.107T>C (p.Leu36Ser)	LOC130004408, TCTN3 (L36S +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 2186977	NM_015631.6(TCTN3):c.1580A>G (p.Gln527Arg)	TCTN3 (Q495R +3 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +2 more	GUncertain significance
Select item 2183682	NM_015631.6(TCTN3):c.1029G>A (p.Leu343=)	TCTN3	Single nucleotide variant (synonymous variant +1 more)	TCTN3-related disorder +2 more	GLikely benign
Select item 2176964	NM_015631.6(TCTN3):c.393G>C (p.Trp131Cys)	TCTN3 (W131C +1 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 2174411	NM_015631.6(TCTN3):c.1596T>C (p.Ser532=)	TCTN3	Single nucleotide variant (synonymous variant)	Orofacial-digital syndrome IV +1 more	GLikely benign
Select item 2172112	NM_015631.6(TCTN3):c.1381A>G (p.Ile461Val)	TCTN3 (I479V +3 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 2169702	NM_015631.6(TCTN3):c.1160T>G (p.Val387Gly)	TCTN3 (V239G +3 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 2163211	NM_015631.6(TCTN3):c.1467T>C (p.Thr489=)	TCTN3	Single nucleotide variant (synonymous variant)	Orofacial-digital syndrome IV +1 more	GLikely benign
Select item 2163063	NM_015631.6(TCTN3):c.1361C>G (p.Pro454Arg)	TCTN3 (P306R +3 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 2158555	NM_015631.6(TCTN3):c.570T>G (p.Phe190Leu)	TCTN3 (F208L +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 2152111	NM_015631.6(TCTN3):c.628-10T>C	TCTN3	Single nucleotide variant (intron variant)	TCTN3-related disorder +2 more	GLikely benign
Select item 2151523	NM_015631.6(TCTN3):c.1704C>T (p.Phe568=)	TCTN3	Single nucleotide variant (synonymous variant)	Orofacial-digital syndrome IV +1 more	GLikely benign
Select item 2149567	NM_015631.6(TCTN3):c.755G>A (p.Ser252Asn)	TCTN3 (S252N +2 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 2147816	NM_015631.6(TCTN3):c.1139G>C (p.Ser380Thr)	TCTN3 (S380T +3 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 2147470	NM_015631.6(TCTN3):c.25C>T (p.Leu9=)	LOC130004408, TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2145107	NM_015631.6(TCTN3):c.1688A>C (p.Asp563Ala)	TCTN3 (D415A +3 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 2144177	NM_015631.6(TCTN3):c.21G>C (p.Ala7=)	LOC130004408, TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2143346	NM_015631.6(TCTN3):c.888+3A>T	TCTN3	Single nucleotide variant (intron variant)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 2142257	NM_015631.6(TCTN3):c.1562G>A (p.Arg521Gln)	TCTN3 (R539Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2142076	NM_015631.6(TCTN3):c.1755A>T (p.Lys585Asn)	TCTN3 (K437N +3 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 2141899	NM_015631.6(TCTN3):c.1438C>T (p.His480Tyr)	TCTN3 (H332Y +3 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 2139549	NM_015631.6(TCTN3):c.1762G>A (p.Val588Ile)	TCTN3 (V588I +3 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 2136675	NM_015631.6(TCTN3):c.1203A>G (p.Ser401=)	TCTN3	Single nucleotide variant (synonymous variant)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 2134462	NM_015631.6(TCTN3):c.1353T>C (p.His451=)	TCTN3	Single nucleotide variant (synonymous variant)	Orofacial-digital syndrome IV +1 more	GLikely benign
Select item 2134233	NM_015631.6(TCTN3):c.670A>G (p.Ile224Val)	TCTN3 (I242V +1 more)	Single nucleotide variant (missense variant +1 more)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 2134158	NM_015631.6(TCTN3):c.256G>T (p.Val86Phe)	LOC130004408, TCTN3 (V104F +1 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 2133129	NM_015631.6(TCTN3):c.1365A>G (p.Arg455=)	TCTN3	Single nucleotide variant (synonymous variant)	Orofacial-digital syndrome IV +1 more	GLikely benign
Select item 2129810	NM_015631.6(TCTN3):c.412_413del (p.Val138fs)	TCTN3 (V138fs)	Deletion (frameshift variant)	Joubert syndrome 18 +1 more	GPathogenic
Select item 2128938	NM_015631.6(TCTN3):c.201C>T (p.Val67=)	LOC130004408, TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2126740	NM_015631.6(TCTN3):c.1591-7C>G	TCTN3	Single nucleotide variant (intron variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2123567	NM_015631.6(TCTN3):c.92C>A (p.Ala31Glu)	LOC130004408, TCTN3 (A31E +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 2123361	NM_015631.6(TCTN3):c.444A>G (p.Ser148=)	TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2120440	NM_015631.6(TCTN3):c.1206dup (p.Thr403fs)	TCTN3 (T403fs +1 more)	Duplication (frameshift variant)	Orofacial-digital syndrome IV +1 more	GPathogenic
Select item 2120437	NM_015631.6(TCTN3):c.995G>C (p.Gly332Ala)	TCTN3 (G305A +2 more)	Single nucleotide variant (missense variant +1 more)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 2118493	NM_015631.6(TCTN3):c.191C>T (p.Pro64Leu)	LOC130004408, TCTN3 (P82L +1 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 2115690	NM_015631.6(TCTN3):c.101C>A (p.Thr34Lys)	LOC130004408, TCTN3 (T34K +1 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 2110802	NM_015631.6(TCTN3):c.61C>T (p.Arg21Trp)	LOC130004408, TCTN3 (R39W +1 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 2108190	NM_015631.6(TCTN3):c.793dup (p.Ser265fs)	TCTN3 (S265fs +1 more)	Duplication (frameshift variant)	Joubert syndrome 18 +1 more	GPathogenic
Select item 2106068	NM_015631.6(TCTN3):c.934T>C (p.Leu312=)	TCTN3	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2105861	NM_015631.6(TCTN3):c.1096-17C>G	TCTN3	Single nucleotide variant (intron variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2105343	NM_015631.6(TCTN3):c.261A>G (p.Leu87=)	TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 2104846	NM_015631.6(TCTN3):c.1707CTT[1] (p.Phe571del)	TCTN3 (F539del +3 more)	Microsatellite (inframe_deletion +1 more)	Joubert syndrome 18 +1 more	GUncertain significance

<< First< Prev

Page of 5