26123[geneid] - ClinVar - NCBI

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	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 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	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 2053634	NM_015631.6(TCTN3):c.1819_1820del (p.Met607fs)	TCTN3 (M607fs +1 more)	Deletion (frameshift variant)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 2953517	NM_015631.6(TCTN3):c.1816A>G (p.Thr606Ala)	TCTN3 (T606A +3 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +1 more	GUncertain significance
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 1943012	NM_015631.6(TCTN3):c.1809C>T (p.Asn603=)	TCTN3	Single nucleotide variant (synonymous variant)	Orofacial-digital syndrome IV +1 more	GLikely benign
Select item 3175390	NM_015631.6(TCTN3):c.1799G>T (p.Gly600Val)	TCTN3 (G600V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1491059	NM_015631.6(TCTN3):c.1796T>G (p.Leu599Arg)	TCTN3 (L599R +1 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 1963980	NM_015631.6(TCTN3):c.1792C>T (p.Leu598=)	TCTN3	Single nucleotide variant (synonymous variant)	Orofacial-digital syndrome IV +1 more	GLikely benign
Select item 759509	NM_015631.6(TCTN3):c.1782G>C (p.Leu594=)	TCTN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2056552	NM_015631.6(TCTN3):c.1779C>A (p.Ile593=)	TCTN3	Single nucleotide variant (synonymous variant)	Orofacial-digital syndrome IV +1 more	GLikely benign
Select item 2064122	NM_015631.6(TCTN3):c.1774C>T (p.Leu592Phe)	TCTN3 (L610F +3 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 194415	NM_015631.6(TCTN3):c.1774C>G (p.Leu592Val)	TCTN3 (L592V +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +3 more	GUncertain significance
Select item 2005383	NM_015631.6(TCTN3):c.1772T>C (p.Ile591Thr)	TCTN3 (I559T +3 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 591929	NM_015631.6(TCTN3):c.1772del (p.Ile591fs)	TCTN3 (I591fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1442041	NM_015631.6(TCTN3):c.1771A>T (p.Ile591Phe)	TCTN3 (I443F +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 1448693	NM_015631.6(TCTN3):c.1766C>G (p.Ser589Cys)	TCTN3 (S441C +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 386676	NM_015631.6(TCTN3):c.1764C>T (p.Val588=)	TCTN3	Single nucleotide variant (synonymous variant)	Orofacial-digital syndrome IV +3 more	GLikely benign
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 931147	NM_015631.6(TCTN3):c.1760C>A (p.Ser587Ter)	TCTN3 (S439* +1 more)	Single nucleotide variant (nonsense)	Orofacial-digital syndrome IV	GLikely pathogenic
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 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 1013694	NM_015631.6(TCTN3):c.1741G>C (p.Val581Leu)	TCTN3 (V433L +1 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 1424408	NM_015631.6(TCTN3):c.1736G>A (p.Arg579Lys)	TCTN3 (R579K +1 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 1616402	NM_015631.6(TCTN3):c.1716C>T (p.Pro572=)	TCTN3	Single nucleotide variant (synonymous variant)	Orofacial-digital syndrome IV +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
Select item 1411675	NM_015631.6(TCTN3):c.1705G>A (p.Asp569Asn)	TCTN3 (D421N +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +2 more	GUncertain significance
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 1557944	NM_015631.6(TCTN3):c.1695A>G (p.Lys565=)	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 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 1609150	NM_015631.6(TCTN3):c.1680C>T (p.Pro560=)	TCTN3	Single nucleotide variant (synonymous variant)	Orofacial-digital syndrome IV +1 more	GLikely benign
Select item 2081732	NM_015631.6(TCTN3):c.1669A>G (p.Arg557Gly)	TCTN3 (R525G +3 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 1375354	NM_015631.6(TCTN3):c.1660C>T (p.Gln554Ter)	TCTN3 (Q554* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 1571635	NM_015631.6(TCTN3):c.1650C>T (p.Thr550=)	TCTN3	Single nucleotide variant (synonymous variant)	Orofacial-digital syndrome IV +1 more	GLikely benign
Select item 1420806	NM_015631.6(TCTN3):c.1647del (p.Thr550fs)	TCTN3 (T402fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 1399579	NM_015631.6(TCTN3):c.1606_1611del (p.Thr536_Glu537del)	TCTN3	Deletion (inframe_deletion)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 591182	NM_015631.6(TCTN3):c.1609_1610del (p.Glu537fs)	TCTN3 (E389fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2083462	NM_015631.6(TCTN3):c.1608A>G (p.Thr536=)	TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 1461163	NM_015631.6(TCTN3):c.1607C>T (p.Thr536Ile)	TCTN3 (T388I +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 1398024	NM_015631.6(TCTN3):c.1606A>G (p.Thr536Ala)	TCTN3 (T536A +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +1 more	GUncertain significance
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 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 1514650	NM_015631.6(TCTN3):c.1592A>T (p.Asp531Val)	TCTN3 (D383V +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 1905570	NM_015631.6(TCTN3):c.1591G>A (p.Asp531Asn)	TCTN3 (D383N +3 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 1402702	NM_015631.6(TCTN3):c.1591G>T (p.Asp531Tyr)	TCTN3 (D383Y +1 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 1108217	NM_015631.6(TCTN3):c.1591-4G>A	TCTN3	Single nucleotide variant (intron variant)	Orofacial-digital syndrome IV +1 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 2126740	NM_015631.6(TCTN3):c.1591-7C>G	TCTN3	Single nucleotide variant (intron variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 759649	NM_015631.6(TCTN3):c.1591-9T>G	TCTN3	Single nucleotide variant (intron variant)	Orofacial-digital syndrome IV +1 more	GLikely benign
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 1572894	NM_015631.6(TCTN3):c.1590+15A>T	TCTN3	Single nucleotide variant (intron variant)	Orofacial-digital syndrome IV +1 more	GLikely benign
Select item 1531290	NM_015631.6(TCTN3):c.1590+15A>G	TCTN3	Single nucleotide variant (intron variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 1899543	NM_015631.6(TCTN3):c.1590+14C>T	TCTN3	Single nucleotide variant (intron variant)	Orofacial-digital syndrome IV +1 more	GLikely benign
Select item 1952200	NM_015631.6(TCTN3):c.1590+8A>G	TCTN3	Single nucleotide variant (intron variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 444232	NM_015631.6(TCTN3):c.1582_1590+7del	TCTN3	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 1440057	NM_015631.6(TCTN3):c.1590+4A>T	TCTN3	Single nucleotide variant (intron variant)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 1491156	NM_015631.6(TCTN3):c.1589A>G (p.Gln530Arg)	TCTN3 (Q530R +1 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 2002775	NM_015631.6(TCTN3):c.1583C>A (p.Ser528Tyr)	TCTN3 (S496Y +3 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +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 2075899	NM_015631.6(TCTN3):c.1576T>C (p.Cys526Arg)	TCTN3 (C378R +3 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 2072015	NM_015631.6(TCTN3):c.1575G>T (p.Gln525His)	TCTN3 (Q493H +3 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 391622	NM_015631.6(TCTN3):c.1575G>A (p.Gln525=)	TCTN3	Single nucleotide variant (synonymous variant)	Orofacial-digital syndrome IV +2 more	GLikely benign
Select item 1402844	NM_015631.6(TCTN3):c.1572C>G (p.Tyr524Ter)	TCTN3 (Y376* +1 more)	Single nucleotide variant (nonsense)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 1605195	NM_015631.6(TCTN3):c.1569A>C (p.Leu523=)	TCTN3	Single nucleotide variant (synonymous variant)	Orofacial-digital syndrome IV +1 more	GLikely benign
Select item 593947	NM_015631.6(TCTN3):c.1569A>G (p.Leu523=)	TCTN3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 385908	NM_015631.6(TCTN3):c.1567C>T (p.Leu523=)	TCTN3	Single nucleotide variant (synonymous variant)	Orofacial-digital syndrome IV +2 more	GLikely benign
Select item 1716251	NM_015631.6(TCTN3):c.1564T>C (p.Phe522Leu)	TCTN3 (F374L +3 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +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 1430981	NM_015631.6(TCTN3):c.1562G>C (p.Arg521Pro)	TCTN3 (R373P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2429256	NM_015631.6(TCTN3):c.1561C>T (p.Arg521Ter)	TCTN3 (R373* +3 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 754542	NM_015631.6(TCTN3):c.1554A>T (p.Ser518=)	TCTN3	Single nucleotide variant (synonymous variant)	not provided	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 1546628	NM_015631.6(TCTN3):c.1539G>A (p.Pro513=)	TCTN3	Single nucleotide variant (synonymous variant)	Orofacial-digital syndrome IV +1 more	GLikely benign
Select item 1481960	NM_015631.6(TCTN3):c.1538C>T (p.Pro513Leu)	TCTN3 (P513L +1 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +2 more	GUncertain significance
Select item 423293	NM_015631.6(TCTN3):c.1537C>T (p.Pro513Ser)	TCTN3 (P513S +1 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +3 more	GConflicting classifications of pathogenicity
Select item 1481209	NM_015631.6(TCTN3):c.1529_1532dup (p.Asn512fs)	TCTN3 (N364fs +1 more)	Duplication (frameshift variant)	Joubert syndrome 18 +1 more	GLikely pathogenic
Select item 1439041	NM_015631.6(TCTN3):c.1520dup (p.Gly508fs)	TCTN3 (G360fs +1 more)	Duplication (frameshift variant)	Joubert syndrome 18 +2 more	GConflicting classifications of pathogenicity
Select item 1960577	NM_015631.6(TCTN3):c.1513G>A (p.Ala505Thr)	TCTN3 (A505T +3 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 1954087	NM_015631.6(TCTN3):c.1503G>A (p.Gln501=)	TCTN3	Single nucleotide variant (synonymous variant)	Joubert syndrome 18 +1 more	GLikely benign
Select item 1720397	NM_015631.6(TCTN3):c.1499T>C (p.Ile500Thr)	TCTN3 (I352T +3 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 1596941	NM_015631.6(TCTN3):c.1497G>A (p.Glu499=)	TCTN3	Single nucleotide variant (synonymous variant)	Orofacial-digital syndrome IV +1 more	GLikely benign
Select item 1910782	NM_015631.6(TCTN3):c.1490C>G (p.Ser497Cys)	TCTN3 (S349C +3 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +1 more	GUncertain significance
Select item 1953410	NM_015631.6(TCTN3):c.1489T>G (p.Ser497Ala)	TCTN3 (S497A +3 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +1 more	GUncertain significance
Select item 1120097	NM_015631.6(TCTN3):c.1474_1484del (p.Cys492fs)	TCTN3 (C344fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 18 +2 more	GUncertain significance
Select item 1419103	NM_015631.6(TCTN3):c.1474T>A (p.Cys492Ser)	TCTN3 (C492S +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +2 more	GUncertain significance
Select item 2081871	NM_015631.6(TCTN3):c.1469C>T (p.Ser490Phe)	TCTN3 (S490F +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 1421347	NM_015631.6(TCTN3):c.1466C>T (p.Thr489Ile)	TCTN3 (T341I +1 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +1 more	GUncertain significance

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