TAF1C[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	LOC128772417, LOC128772418 +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC130059153, LOC130059154 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	LOC100129617, LOC100506281 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	ACSF3, ADAD2 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC400553, LOC654780 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	ACSF3, ADAD2 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	ADAD2, ARLNC1 +447 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	LINC02176, LOC101928392 +211 more	Copy number loss	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LINC00917, LINC01081 +566 more	Copy number gain	See cases	GPathogenic
Select item 59519	GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1	ADAD2, ATP2C2 +106 more	Copy number loss	See cases	GPathogenic
Select item 144447	GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1	ADAD2, ATP2C2 +93 more	Copy number loss	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	LOC130059799, LOC130059800 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 147286	GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1	ADAD2, ATP2C2 +203 more	Copy number loss	See cases	GPathogenic
Select item 152236	GRCh38/hg38 16q23.3-24.1(chr16:83763804-84276472)x3	ADAD2, CDH13 +36 more	Copy number gain	See cases	GUncertain significance
Select item 150582	GRCh38/hg38 16q23.3-24.1(chr16:83763804-84558035)x1	ADAD2, ATP2C2 +55 more	Copy number loss	See cases	GUncertain significance
Select item 146470	GRCh38/hg38 16q23.3-24.1(chr16:83878992-84908120)x3	ADAD2, ATP2C2 +80 more	Copy number gain	See cases	GUncertain significance
Select item 57422	GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1	ADAD2, ATP2C2 +227 more	Copy number loss	See cases	GPathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 147259	GRCh38/hg38 16q23.3-24.1(chr16:84063406-84404889)x3	ADAD2, ATP2C2 +20 more	Copy number gain	See cases	GBenign
Select item 320782	NM_001243156.2(TAF1C):c.*1084A>G	DNAAF1, TAF1C	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 262932	NM_001243156.2(TAF1C):c.*1082A>G	DNAAF1, TAF1C	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 262933	NM_001243156.2(TAF1C):c.*1064G>A	DNAAF1, TAF1C	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 320783	NM_001243156.2(TAF1C):c.1055_1058del	DNAAF1, TAF1C	Deletion (3 prime UTR variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 320784	NM_001243156.2(TAF1C):c.*1033A>G	DNAAF1, TAF1C	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 13	GLikely benign
Select item 1237217	NM_001243156.2(TAF1C):c.*829G>A	DNAAF1, TAF1C	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1273114	NM_001243156.2(TAF1C):c.*812T>G	DNAAF1, TAF1C	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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 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 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 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 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 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 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 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 2646908	NM_001243156.2(TAF1C):c.2289C>T (p.Pro763=)	TAF1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2646910	NM_001243156.2(TAF1C):c.1938G>A (p.Glu646=)	TAF1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 788903	NM_001243156.2(TAF1C):c.1704C>G (p.Val568=)	TAF1C	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 402596	NM_001243156.2(TAF1C):c.1645T>A (p.Leu549Met)	DNAAF1, TAF1C (L243M +5 more)	Single nucleotide variant (missense variant)	not specified	GBenign
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 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 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 1696480	NM_001243156.2(TAF1C):c.1522del (p.Gln508fs)	TAF1C (Q125fs +5 more)	Deletion (frameshift variant)	TAF1C-Associated Neurodevelopmental Disorder	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2646915	NM_001243156.2(TAF1C):c.838+30C>T	TAF1C (H290Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 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 718606	NM_001243156.2(TAF1C):c.534G>A (p.Gly178=)	TAF1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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

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