TAF4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC130066362, LOC130066363 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 148773	GRCh38/hg38 20q13.33(chr20:61588953-62241744)x3	CDH4, HRH3 +30 more	Copy number gain	See cases	GUncertain significance
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 2323707	NM_003185.4(TAF4):c.3224A>G (p.His1075Arg)	TAF4 (H1075R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3343014	NM_003185.4(TAF4):c.3200del (p.Cys1066_Leu1067insTer)	TAF4	Deletion (nonsense)	not provided	GUncertain significance
Select item 3173511	NM_003185.4(TAF4):c.3140C>T (p.Pro1047Leu)	TAF4 (P1047L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173510	NM_003185.4(TAF4):c.3134dup (p.Thr1046fs)	TAF4 (T1046fs)	Duplication (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 3374813	NM_003185.4(TAF4):c.3125C>T (p.Ser1042Leu)	TAF4 (S1042L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1339341	NM_003185.4(TAF4):c.3101_3102del (p.Pro1034fs)	TAF4 (P1034fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 730519	NM_003185.4(TAF4):c.3099C>T (p.Gly1033=)	TAF4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3324249	NM_003185.4(TAF4):c.3074C>T (p.Pro1025Leu)	TAF4 (P1025L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3235955	NM_003185.4(TAF4):c.3052_3053del (p.Arg1018fs)	TAF4 (R1018fs)	Microsatellite (frameshift variant)	Intellectual developmental disorder, autosomal dominant 73	GUncertain significance
Select item 3242345	NM_003185.4(TAF4):c.2845C>T (p.Gln949Ter)	TAF4 (Q949*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal dominant 73	GPathogenic
Select item 3376923	NM_003185.4(TAF4):c.2801A>T (p.Tyr934Phe)	TAF4 (Y934F)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3173509	NM_003185.4(TAF4):c.2794G>A (p.Asp932Asn)	TAF4 (D932N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173508	NM_003185.4(TAF4):c.2719C>T (p.Gln907Ter)	TAF4 (Q907*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3242349	NM_003185.4(TAF4):c.2664del (p.Lys888fs)	TAF4 (K888fs)	Deletion (frameshift variant)	Intellectual developmental disorder, autosomal dominant 73	GPathogenic
Select item 2268145	NM_003185.4(TAF4):c.2627C>T (p.Ala876Val)	TAF4 (A876V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3364977	NM_003185.4(TAF4):c.2608G>A (p.Glu870Lys)	TAF4 (E870K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367308	NM_003185.4(TAF4):c.2543A>G (p.Glu848Gly)	TAF4 (E848G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663690	NM_003185.4(TAF4):c.2493TGA[3] (p.Asp833_Ile834insAsp)	TAF4	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 3336187	NM_003185.4(TAF4):c.2462A>G (p.Lys821Arg)	TAF4 (K821R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242348	NM_003185.4(TAF4):c.2453dup (p.Asn818fs)	TAF4 (N818fs)	Duplication (frameshift variant)	Intellectual developmental disorder, autosomal dominant 73	GPathogenic
Select item 3339985	NM_003185.4(TAF4):c.2363T>C (p.Leu788Pro)	TAF4 (L788P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267449	NM_003185.4(TAF4):c.2321G>A (p.Arg774Gln)	TAF4 (R774Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3339469	NM_003185.4(TAF4):c.2263C>A (p.Pro755Thr)	TAF4 (P755T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324251	NM_003185.4(TAF4):c.2197G>A (p.Gly733Ser)	TAF4 (G733S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398676	NM_003185.4(TAF4):c.2191G>A (p.Gly731Ser)	TAF4 (G731S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242347	NM_003185.4(TAF4):c.2185C>T (p.Gln729Ter)	TAF4 (Q729*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal dominant 73	GPathogenic
Select item 560277	NM_003185.4(TAF4):c.2160del (p.Val721fs)	TAF4 (V721fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2672884	NM_003185.4(TAF4):c.2143A>G (p.Ser715Gly)	TAF4 (S715G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2771861	NM_003185.4(TAF4):c.2119G>A (p.Gly707Arg)	TAF4 (G707R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372405	NM_003185.4(TAF4):c.2113A>G (p.Thr705Ala)	TAF4 (T705A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2374036	NM_003185.4(TAF4):c.2086G>A (p.Val696Met)	TAF4 (V696M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2652463	NM_003185.4(TAF4):c.2085C>T (p.Ala695=)	TAF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2682368	NM_003185.4(TAF4):c.2060C>T (p.Ser687Leu)	TAF4 (S687L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393701	NM_003185.4(TAF4):c.2045C>A (p.Pro682Gln)	TAF4 (P682Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2474092	NM_003185.4(TAF4):c.1874A>G (p.Gln625Arg)	TAF4 (Q625R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1723743	NM_003185.4(TAF4):c.1802C>G (p.Ser601Cys)	TAF4 (S601C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2312784	NM_003185.4(TAF4):c.1775A>C (p.Asn592Thr)	TAF4 (N592T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173506	NM_003185.4(TAF4):c.1736C>T (p.Ala579Val)	TAF4 (A579V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463177	NM_003185.4(TAF4):c.1715C>T (p.Pro572Leu)	TAF4 (P572L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402160	NM_003185.4(TAF4):c.1708G>T (p.Gly570Trp)	TAF4 (G570W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324254	NM_003185.4(TAF4):c.1706C>G (p.Thr569Arg)	TAF4 (T569R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324253	NM_003185.4(TAF4):c.1705A>G (p.Thr569Ala)	TAF4 (T569A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3376800	NM_003185.4(TAF4):c.1699G>C (p.Val567Leu)	TAF4 (V567L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3173504	NM_003185.4(TAF4):c.1694C>T (p.Thr565Met)	TAF4 (T565M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219032	NM_003185.4(TAF4):c.1691C>T (p.Ala564Val)	TAF4 (A564V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621698	NM_003185.4(TAF4):c.1660G>A (p.Gly554Ser)	TAF4 (G554S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3376452	NM_003185.4(TAF4):c.1631C>T (p.Pro544Leu)	TAF4 (P544L)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 73	GUncertain significance
Select item 2480405	NM_003185.4(TAF4):c.1613C>T (p.Ala538Val)	TAF4 (A538V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324257	NM_003185.4(TAF4):c.1610G>A (p.Ser537Asn)	TAF4 (S537N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458432	NM_003185.4(TAF4):c.1537A>G (p.Ile513Val)	TAF4 (I513V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173503	NM_003185.4(TAF4):c.1519C>T (p.Gln507Ter)	TAF4 (Q507*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2351956	NM_003185.4(TAF4):c.1472G>A (p.Arg491His)	TAF4 (R491H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324252	NM_003185.4(TAF4):c.1433C>T (p.Ala478Val)	TAF4 (A478V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3369759	NM_003185.4(TAF4):c.1383G>C (p.Glu461Asp)	TAF4 (E461D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242346	NM_003185.4(TAF4):c.1348C>T (p.Gln450Ter)	TAF4 (Q450*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GPathogenic
Select item 3173501	NM_003185.4(TAF4):c.1347C>G (p.Phe449Leu)	TAF4 (F449L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324247	NM_003185.4(TAF4):c.1336A>G (p.Ile446Val)	TAF4 (I446V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602787	NM_003185.4(TAF4):c.1309C>T (p.Pro437Ser)	TAF4 (P437S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276651	NM_003185.4(TAF4):c.1300C>A (p.Pro434Thr)	TAF4 (P434T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580554	NM_003185.4(TAF4):c.1241_1279dup (p.Thr426_Leu427insArgThrProThrAlaThrThrSerGlyIleArgAlaThr)	TAF4	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2388930	NM_003185.4(TAF4):c.1219G>A (p.Ala407Thr)	TAF4 (A407T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381834	NM_003185.4(TAF4):c.1192A>C (p.Thr398Pro)	TAF4 (T398P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2652464	NM_003185.4(TAF4):c.1170G>A (p.Pro390=)	TAF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2361962	NM_003185.4(TAF4):c.1157C>T (p.Pro386Leu)	TAF4 (P386L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315798	NM_003185.4(TAF4):c.1104C>G (p.Ser368Arg)	TAF4 (S368R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240471	NM_003185.4(TAF4):c.1100C>T (p.Ala367Val)	TAF4 (A367V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544778	NM_003185.4(TAF4):c.1081C>G (p.Leu361Val)	TAF4 (L361V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516019	NM_003185.4(TAF4):c.1067C>T (p.Pro356Leu)	TAF4 (P356L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324250	NM_003185.4(TAF4):c.1046G>C (p.Arg349Thr)	TAF4 (R349T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2469003	NM_003185.4(TAF4):c.1045A>G (p.Arg349Gly)	TAF4 (R349G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401643	NM_003185.4(TAF4):c.1039C>G (p.Pro347Ala)	TAF4 (P347A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392274	NM_003185.4(TAF4):c.1035G>C (p.Glu345Asp)	TAF4 (E345D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392273	NM_003185.4(TAF4):c.1031C>G (p.Ala344Gly)	TAF4 (A344G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3372427	NM_003185.4(TAF4):c.983_1013del (p.Gln328fs)	MIR3195, TAF4 (Q328fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2364120	NM_003185.4(TAF4):c.1007C>T (p.Ala336Val)	MIR3195, TAF4 (A336V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331304	NM_003185.4(TAF4):c.1001C>T (p.Ala334Val)	MIR3195, TAF4 (A334V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546619	NM_003185.4(TAF4):c.980G>A (p.Gly327Asp)	MIR3195, TAF4 (G327D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342377	NM_003185.4(TAF4):c.973G>T (p.Val325Phe)	MIR3195, TAF4 (V325F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1227169	NM_003185.4(TAF4):c.969G>T (p.Ala323=)	MIR3195, TAF4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3324255	NM_003185.4(TAF4):c.965C>T (p.Pro322Leu)	MIR3195, TAF4 (P322L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3324259	NM_003185.4(TAF4):c.964C>T (p.Pro322Ser)	MIR3195, TAF4 (P322S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3324248	NM_003185.4(TAF4):c.962G>A (p.Gly321Asp)	MIR3195, TAF4 (G321D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611667	NM_003185.4(TAF4):c.944C>G (p.Pro315Arg)	MIR3195, TAF4 (P315R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475432	NM_003185.4(TAF4):c.940G>C (p.Ala314Pro)	MIR3195, TAF4 (A314P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459237	NM_003185.4(TAF4):c.917G>A (p.Gly306Glu)	TAF4 (G306E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2652465	NM_003185.4(TAF4):c.912G>A (p.Gln304=)	TAF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3324258	NM_003185.4(TAF4):c.907G>A (p.Ala303Thr)	TAF4 (A303T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324246	NM_003185.4(TAF4):c.904G>A (p.Ala302Thr)	TAF4 (A302T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173517	NM_003185.4(TAF4):c.899C>T (p.Pro300Leu)	TAF4 (P300L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397542	NM_003185.4(TAF4):c.893C>A (p.Pro298Gln)	TAF4 (P298Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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