TAF1C[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 192

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	ADAD2, ATP2C2 +211 more	Copy number loss	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +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	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 147286	GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1	ADAD2, CIBAR2 +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, KCNG4 +80 more	Copy number gain	See cases	GUncertain significance
Select item 57422	GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1	LOC130059603, LOC130059604 +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_178452.6(DNAAF1):c.*16T>C	TAF1C, DNAAF1	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 13	GUncertain significance
Select item 262932	NM_178452.6(DNAAF1):c.*18T>C	TAF1C, DNAAF1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 262933	NM_178452.6(DNAAF1):c.*36C>T	DNAAF1, TAF1C	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 320783	NM_178452.6(DNAAF1):c.43_46del	TAF1C, DNAAF1	Deletion (3 prime UTR variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 320784	NM_178452.6(DNAAF1):c.*67T>C	DNAAF1, TAF1C	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 13	GLikely benign
Select item 1237217	NC_000016.10:g.84178112C>T	DNAAF1, TAF1C	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1273114	NC_000016.10:g.84178129A>C	DNAAF1, TAF1C	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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 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 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 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 2210071	NM_001243156.2(TAF1C):c.2452C>T (p.Arg818Trp)	TAF1C (R512W +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 2285673	NM_001243156.2(TAF1C):c.2434T>C (p.Ser812Pro)	TAF1C (S361P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2210736	NM_001243156.2(TAF1C):c.2357G>A (p.Arg786Gln)	TAF1C (R718Q +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2260006	NM_001243156.2(TAF1C):c.2314T>A (p.Leu772Met)	TAF1C (L321M +5 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GLikely benign
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 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 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 2255870	NM_001243156.2(TAF1C):c.2264C>T (p.Pro755Leu)	TAF1C (P781L +5 more)	Single nucleotide variant (missense variant)	not specified	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 +1 more	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2646910	NM_001243156.2(TAF1C):c.1938G>A (p.Glu646=)	TAF1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 2218648	NM_001243156.2(TAF1C):c.1778C>T (p.Pro593Leu)	TAF1C (P287L +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 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 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 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 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 2267977	NM_001243156.2(TAF1C):c.1717C>T (p.Leu573Phe)	TAF1C (L505F +5 more)	Single nucleotide variant (missense variant)	not specified	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)	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 402596	NC_000016.10:g.84179828A>T	DNAAF1, TAF1C (L243M +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	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)	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 2252962	NM_001243156.2(TAF1C):c.1579A>G (p.Ile527Val)	TAF1C (I144V +5 more)	Single nucleotide variant (missense variant)	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

<< First< Prev

Page of 2