ClinVar for Gene (Select 9013) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324223	NM_001243156.2(TAF1C):c.1074C>G (p.Asp358Glu)	TAF1C (D291E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324222	NM_001243156.2(TAF1C):c.1553C>G (p.Pro518Arg)	TAF1C (P212R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324221	NM_001243156.2(TAF1C):c.1552C>A (p.Pro518Thr)	TAF1C (P212T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324220	NM_001243156.2(TAF1C):c.676T>G (p.Phe226Val)	TAF1C (F159V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3324219	NM_001243156.2(TAF1C):c.2472G>C (p.Gln824His)	TAF1C (Q373H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324218	NM_001243156.2(TAF1C):c.1397G>A (p.Arg466Gln)	TAF1C (R160Q +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3324217	NM_001243156.2(TAF1C):c.2078A>C (p.Glu693Ala)	TAF1C (E310A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324216	NM_001243156.2(TAF1C):c.1934G>T (p.Arg645Met)	TAF1C (R671M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324215	NM_001243156.2(TAF1C):c.2206C>T (p.Leu736Phe)	TAF1C (L353F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324214	NM_001243156.2(TAF1C):c.2341G>C (p.Val781Leu)	TAF1C (V330L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324213	NM_001243156.2(TAF1C):c.2075G>T (p.Ser692Ile)	TAF1C (S241I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243218	NC_000016.9:g.(?_84179046)_(84211465_?)del	DNAAF1, TAF1C	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3239083	NM_001243156.2(TAF1C):c.1738A>G (p.Ser580Gly)	TAF1C (S129G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3173448	NM_001243156.2(TAF1C):c.874G>A (p.Val292Met)	TAF1C (V292M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173447	NM_001243156.2(TAF1C):c.839-10C>T	TAF1C (P303S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173446	NM_001243156.2(TAF1C):c.86G>T (p.Cys29Phe)	TAF1C (C29F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173445	NM_001243156.2(TAF1C):c.637G>A (p.Gly213Arg)	TAF1C (G146R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173443	NM_001243156.2(TAF1C):c.578T>C (p.Leu193Pro)	TAF1C (L193P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173442	NM_001243156.2(TAF1C):c.2507G>A (p.Arg836Gln)	TAF1C (R453Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173441	NM_001243156.2(TAF1C):c.2480C>T (p.Pro827Leu)	TAF1C (P444L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173440	NM_001243156.2(TAF1C):c.2462G>A (p.Arg821His)	TAF1C (R847H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173439	NM_001243156.2(TAF1C):c.2447G>C (p.Ser816Thr)	TAF1C (S365T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173438	NM_001243156.2(TAF1C):c.241A>C (p.Thr81Pro)	TAF1C (T14P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3173437	NM_001243156.2(TAF1C):c.2110G>T (p.Ala704Ser)	TAF1C (A253S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173435	NM_001243156.2(TAF1C):c.2080C>T (p.Arg694Cys)	TAF1C (R311C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173434	NM_001243156.2(TAF1C):c.2015G>A (p.Gly672Asp)	TAF1C (G672D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173433	NM_001243156.2(TAF1C):c.1976C>T (p.Ala659Val)	TAF1C (A276V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173432	NM_001243156.2(TAF1C):c.1892C>A (p.Thr631Asn)	TAF1C (T248N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173431	NM_001243156.2(TAF1C):c.1868C>G (p.Ala623Gly)	TAF1C (A240G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173430	NM_001243156.2(TAF1C):c.1793C>T (p.Pro598Leu)	TAF1C (P147L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173429	NM_001243156.2(TAF1C):c.1655C>T (p.Ala552Val)	TAF1C (A169V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173428	NM_001243156.2(TAF1C):c.1589G>T (p.Arg530Leu)	TAF1C (R556L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173427	NM_001243156.2(TAF1C):c.1520C>A (p.Pro507His)	TAF1C (P533H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173426	NM_001243156.2(TAF1C):c.1451A>G (p.Gln484Arg)	TAF1C (Q101R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173425	NM_001243156.2(TAF1C):c.1387C>G (p.Leu463Val)	TAF1C (L396V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173424	NM_001243156.2(TAF1C):c.1343T>G (p.Leu448Arg)	TAF1C (L142R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173423	NM_001243156.2(TAF1C):c.1157A>C (p.Asp386Ala)	TAF1C (D319A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173422	NM_001243156.2(TAF1C):c.1034G>A (p.Arg345Gln)	TAF1C (R345Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3173421	NM_001243156.2(TAF1C):c.991C>T (p.Arg331Cys)	TAF1C (R331C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3068683	NM_001243156.2(TAF1C):c.1489G>A (p.Gly497Arg)	TAF1C (G114R +5 more)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GBenign
Select item 3063475	GRCh37/hg19 16q23.3-24.1(chr16:83307393-84530337)x3	ADAD2, ATP2C2 +14 more	Copy number gain	not specified	GUncertain significance
Select item 3063461	GRCh37/hg19 16q23.3-24.1(chr16:84046622-84340916)x3	ADAD2, DNAAF1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063401	GRCh37/hg19 16q23.3-24.1(chr16:84009532-84245489)x1	ADAD2, DNAAF1 +6 more	Copy number loss	not specified	GPathogenic
Select item 2685584	GRCh37/hg19 16q23.3-24.1(chr16:84179382-84326070)x1	ADAD2, DNAAF1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2646916	NM_001243156.2(TAF1C):c.661G>A (p.Gly221Arg)	TAF1C (G154R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2646915	NM_001243156.2(TAF1C):c.838+30C>T	TAF1C (H290Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2646914	NM_001243156.2(TAF1C):c.1087C>T (p.Arg363Cys)	TAF1C (R296C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2646913	NM_001243156.2(TAF1C):c.1640C>T (p.Pro547Leu)	TAF1C (P164L +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2646912	NM_001243156.2(TAF1C):c.1825G>A (p.Gly609Ser)	TAF1C (G158S +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2646911	NM_001243156.2(TAF1C):c.1868C>T (p.Ala623Val)	TAF1C (A172V +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2646910	NM_001243156.2(TAF1C):c.1938G>A (p.Glu646=)	TAF1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646909	NM_001243156.2(TAF1C):c.2259G>T (p.Glu753Asp)	TAF1C (E302D +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2646908	NM_001243156.2(TAF1C):c.2289C>T (p.Pro763=)	TAF1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608939	NM_001243156.2(TAF1C):c.1324G>A (p.Val442Met)	TAF1C (V136M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603449	NM_001243156.2(TAF1C):c.1969C>T (p.Arg657Cys)	TAF1C (R274C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593628	NM_001243156.2(TAF1C):c.1003G>A (p.Val335Ile)	TAF1C (V268I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570952	NM_001243156.2(TAF1C):c.508C>T (p.Arg170Ter)	TAF1C (R103* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2570951	NM_001243156.2(TAF1C):c.514C>T (p.Arg172Cys)	TAF1C (R105C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2551826	NM_001243156.2(TAF1C):c.2092G>T (p.Ala698Ser)	TAF1C (A698S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516604	NM_001243156.2(TAF1C):c.853C>T (p.Arg285Cys)	TAF1C (R285C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490991	NM_001243156.2(TAF1C):c.269G>A (p.Gly90Glu)	TAF1C (G90E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2488605	NM_001243156.2(TAF1C):c.1054G>A (p.Glu352Lys)	TAF1C (E285K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483478	NM_001243156.2(TAF1C):c.1919G>A (p.Ser640Asn)	TAF1C (S257N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482537	NM_001243156.2(TAF1C):c.1826G>A (p.Gly609Asp)	TAF1C (G158D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481824	NM_001243156.2(TAF1C):c.2219T>G (p.Val740Gly)	TAF1C (V289G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477549	NM_001243156.2(TAF1C):c.1885G>A (p.Ala629Thr)	TAF1C (A323T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476893	NM_001243156.2(TAF1C):c.1669C>G (p.Leu557Val)	TAF1C (L106V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476341	NM_001243156.2(TAF1C):c.1496C>T (p.Ser499Leu)	TAF1C (S116L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475251	NM_001243156.2(TAF1C):c.1919G>T (p.Ser640Ile)	TAF1C (S257I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472454	NM_001243156.2(TAF1C):c.82A>G (p.Met28Val)	TAF1C (M28V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466230	NM_001243156.2(TAF1C):c.1601G>A (p.Arg534His)	TAF1C (R151H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465569	NM_001243156.2(TAF1C):c.2230G>A (p.Glu744Lys)	TAF1C (E438K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463715	NM_001243156.2(TAF1C):c.1768G>C (p.Asp590His)	TAF1C (D139H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455788	NM_001243156.2(TAF1C):c.2276C>T (p.Ala759Val)	TAF1C (A785V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427571	NC_000016.9:g.(?_83932750)_(84211465_?)dup	DNAAF1, HSDL1 +6 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 2406147	NM_001243156.2(TAF1C):c.112C>T (p.Pro38Ser)	TAF1C (P38S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2404880	NM_001243156.2(TAF1C):c.1033C>T (p.Arg345Trp)	TAF1C (R345W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404395	NM_001243156.2(TAF1C):c.298G>A (p.Val100Met)	TAF1C (V100M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2386675	NM_001243156.2(TAF1C):c.2027C>T (p.Ala676Val)	TAF1C (A702V +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2381784	NM_001243156.2(TAF1C):c.2273A>G (p.Asp758Gly)	TAF1C (D452G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377373	NM_001243156.2(TAF1C):c.2449G>T (p.Val817Phe)	TAF1C (V366F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373387	NM_001243156.2(TAF1C):c.2362A>G (p.Met788Val)	TAF1C (M337V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371425	NM_001243156.2(TAF1C):c.1778C>G (p.Pro593Arg)	TAF1C (P142R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364556	NM_001243156.2(TAF1C):c.2167C>T (p.Arg723Trp)	TAF1C (R417W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348977	NM_001243156.2(TAF1C):c.2287C>T (p.Pro763Ser)	TAF1C (P312S +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2348062	NM_001243156.2(TAF1C):c.2387T>C (p.Leu796Pro)	TAF1C (L345P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347822	NM_001243156.2(TAF1C):c.1721G>A (p.Arg574His)	TAF1C (R123H +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343968	NM_001243156.2(TAF1C):c.1727A>G (p.Gln576Arg)	TAF1C (Q270R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341759	NM_001243156.2(TAF1C):c.2266C>G (p.Pro756Ala)	TAF1C (P305A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335543	NM_001243156.2(TAF1C):c.1988G>A (p.Gly663Glu)	TAF1C (G212E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323849	NM_001243156.2(TAF1C):c.152A>G (p.His51Arg)	TAF1C (H51R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2323401	NM_001243156.2(TAF1C):c.505A>T (p.Asn169Tyr)	TAF1C (N169Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322722	NM_001243156.2(TAF1C):c.2252G>A (p.Ser751Asn)	TAF1C (S300N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321589	NM_001243156.2(TAF1C):c.2453G>T (p.Arg818Leu)	TAF1C (R367L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319049	NM_001243156.2(TAF1C):c.1519C>G (p.Pro507Ala)	TAF1C (P507A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312698	NM_001243156.2(TAF1C):c.1777C>T (p.Pro593Ser)	TAF1C (P525S +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2309171	NM_001243156.2(TAF1C):c.2081G>A (p.Arg694His)	TAF1C (R311H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291186	NM_001243156.2(TAF1C):c.1160C>G (p.Thr387Ser)	TAF1C (T413S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285673	NM_001243156.2(TAF1C):c.2434T>C (p.Ser812Pro)	TAF1C (S361P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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