ClinVar for Gene (Select 9013) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 (5 prime UTR 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	GLikely benign
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 provided	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)	Inborn genetic diseases	GUncertain significance
Select item 2603449	NM_001243156.2(TAF1C):c.1969C>T (p.Arg657Cys)	TAF1C (R274C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2483478	NM_001243156.2(TAF1C):c.1919G>A (p.Ser640Asn)	TAF1C (S257N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482537	NM_001243156.2(TAF1C):c.1826G>A (p.Gly609Asp)	TAF1C (G158D +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481824	NM_001243156.2(TAF1C):c.2219T>G (p.Val740Gly)	TAF1C (V289G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477549	NM_001243156.2(TAF1C):c.1885G>A (p.Ala629Thr)	TAF1C (A323T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476893	NM_001243156.2(TAF1C):c.1669C>G (p.Leu557Val)	TAF1C (L106V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476341	NM_001243156.2(TAF1C):c.1496C>T (p.Ser499Leu)	TAF1C (S116L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475251	NM_001243156.2(TAF1C):c.1919G>T (p.Ser640Ile)	TAF1C (S257I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472454	NM_001243156.2(TAF1C):c.82A>G (p.Met28Val)	TAF1C (M28V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466230	NM_001243156.2(TAF1C):c.1601G>A (p.Arg534His)	TAF1C (R151H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465569	NM_001243156.2(TAF1C):c.2230G>A (p.Glu744Lys)	TAF1C (E438K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463715	NM_001243156.2(TAF1C):c.1768G>C (p.Asp590His)	TAF1C (D139H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455788	NM_001243156.2(TAF1C):c.2276C>T (p.Ala759Val)	TAF1C (A785V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2386675	NM_001243156.2(TAF1C):c.2027C>T (p.Ala676Val)	TAF1C (A702V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381784	NM_001243156.2(TAF1C):c.2273A>G (p.Asp758Gly)	TAF1C (D452G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377373	NM_001243156.2(TAF1C):c.2449G>T (p.Val817Phe)	TAF1C (V366F +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373387	NM_001243156.2(TAF1C):c.2362A>G (p.Met788Val)	TAF1C (M337V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371425	NM_001243156.2(TAF1C):c.1778C>G (p.Pro593Arg)	TAF1C (P142R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364556	NM_001243156.2(TAF1C):c.2167C>T (p.Arg723Trp)	TAF1C (R417W +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348977	NM_001243156.2(TAF1C):c.2287C>T (p.Pro763Ser)	TAF1C (P312S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2348062	NM_001243156.2(TAF1C):c.2387T>C (p.Leu796Pro)	TAF1C (L345P +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347822	NM_001243156.2(TAF1C):c.1721G>A (p.Arg574His)	TAF1C (R123H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2343968	NM_001243156.2(TAF1C):c.1727A>G (p.Gln576Arg)	TAF1C (Q270R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341759	NM_001243156.2(TAF1C):c.2266C>G (p.Pro756Ala)	TAF1C (P305A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335543	NM_001243156.2(TAF1C):c.1988G>A (p.Gly663Glu)	TAF1C (G212E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323849	NM_001243156.2(TAF1C):c.152A>G (p.His51Arg)	TAF1C (H51R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2322722	NM_001243156.2(TAF1C):c.2252G>A (p.Ser751Asn)	TAF1C (S300N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321589	NM_001243156.2(TAF1C):c.2453G>T (p.Arg818Leu)	TAF1C (R367L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319049	NM_001243156.2(TAF1C):c.1519C>G (p.Pro507Ala)	TAF1C (P507A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312698	NM_001243156.2(TAF1C):c.1777C>T (p.Pro593Ser)	TAF1C (P525S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2309171	NM_001243156.2(TAF1C):c.2081G>A (p.Arg694His)	TAF1C (R311H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2285673	NM_001243156.2(TAF1C):c.2434T>C (p.Ser812Pro)	TAF1C (S361P +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283082	NM_001243156.2(TAF1C):c.650C>T (p.Ala217Val)	TAF1C (A150V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271776	NM_001243156.2(TAF1C):c.89G>T (p.Ser30Ile)	TAF1C (S30I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2267977	NM_001243156.2(TAF1C):c.1717C>T (p.Leu573Phe)	TAF1C (L505F +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265513	NM_001243156.2(TAF1C):c.1382C>G (p.Pro461Arg)	TAF1C (P487R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261957	NM_001243156.2(TAF1C):c.286C>T (p.Arg96Trp)	TAF1C (R96W +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2260006	NM_001243156.2(TAF1C):c.2314T>A (p.Leu772Met)	TAF1C (L321M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255870	NM_001243156.2(TAF1C):c.2264C>T (p.Pro755Leu)	TAF1C (P781L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252962	NM_001243156.2(TAF1C):c.1579A>G (p.Ile527Val)	TAF1C (I144V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242111	NM_001243156.2(TAF1C):c.1426G>A (p.Val476Met)	TAF1C (V93M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239564	NM_001243156.2(TAF1C):c.1504C>G (p.Arg502Gly)	TAF1C (R528G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238730	NM_001243156.2(TAF1C):c.1183C>G (p.Leu395Val)	TAF1C (L328V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222140	NM_001243156.2(TAF1C):c.941C>T (p.Thr314Met)	TAF1C (T340M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218648	NM_001243156.2(TAF1C):c.1778C>T (p.Pro593Leu)	TAF1C (P287L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212700	NM_001243156.2(TAF1C):c.425A>C (p.Lys142Thr)	TAF1C (K142T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2210736	NM_001243156.2(TAF1C):c.2357G>A (p.Arg786Gln)	TAF1C (R718Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2210071	NM_001243156.2(TAF1C):c.2452C>T (p.Arg818Trp)	TAF1C (R512W +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2208881	NM_001243156.2(TAF1C):c.212C>T (p.Pro71Leu)	TAF1C (P71L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1696480	NM_001243156.2(TAF1C):c.1522del (p.Gln508fs)	TAF1C (Q125fs +5 more)	Deletion (frameshift variant)	TAF1C-Associated Neurodevelopmental Disorder	GUncertain significance
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1526538	GRCh37/hg19 16q23.3-24.1(chr16:84164522-84712751)	DNAAF1, HSDL1 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526537	GRCh37/hg19 16q23.3-24.1(chr16:84134463-85705611)	HSDL1, ADAD2 +16 more	Copy number loss	not specified	GUncertain significance
Select item 1526536	GRCh37/hg19 16q23.3-24.1(chr16:84035055-84346054)	DNAAF1, HSDL1 +8 more	Copy number gain	not specified	GUncertain significance
Select item 1526534	GRCh37/hg19 16q23.3-24.1(chr16:83313106-84608026)	NECAB2, CDH13 +15 more	Copy number loss	not specified	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BCO1, ACSF3 +102 more	Copy number gain	not provided	GPathogenic
Select item 1273114	NM_001243156.2(TAF1C):c.*812T>G	DNAAF1, TAF1C	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1237217	NM_001243156.2(TAF1C):c.*829G>A	DNAAF1, TAF1C	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1076147	NC_000016.9:g.(?_84182606)_(84211452_?)del	DNAAF1, TAF1C	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 979481	GRCh37/hg19 16q23.3-24.1(chr16:83866931-85276940)x3	CIBAR2, SLC38A8 +19 more	Copy number gain	not provided	GUncertain significance
Select item 975044	Single allele	ADAD2, DNAAF1 +26 more	Deletion	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815856	GRCh37/hg19 16q23.3-24.1(chr16:83330709-84866927)x1	OSGIN1, SLC38A8 +18 more	Copy number loss	not provided	GUncertain significance
Select item 788903	NM_001243156.2(TAF1C):c.1704C>G (p.Val568=)	TAF1C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718606	NM_001243156.2(TAF1C):c.534G>A (p.Gly178=)	TAF1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 689307	GRCh37/hg19 16q23.2-24.1(chr16:79254648-84827672)x1	ADAD2, ATMIN +34 more	Copy number loss	not provided	GUncertain significance
Select item 625611	GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	ACSF3, ADAD2 +83 more	Copy number gain	not provided	GPathogenic
Select item 564363	GRCh37/hg19 16q23.3-24.1(chr16:84111320-84485022)x3	TAF1C, KCNG4 +7 more	Copy number gain	not provided	GUncertain significance
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

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