ClinVar for Gene (Select 6875) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324271	NM_005640.3(TAF4B):c.775G>C (p.Val259Leu)	TAF4B (V259L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324270	NM_005640.3(TAF4B):c.1508C>T (p.Pro503Leu)	TAF4B (P503L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324269	NM_005640.3(TAF4B):c.2113C>T (p.His705Tyr)	TAF4B (H705Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324268	NM_005640.3(TAF4B):c.2345A>G (p.Gln782Arg)	TAF4B (Q787R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324267	NM_005640.3(TAF4B):c.937T>G (p.Ser313Ala)	TAF4B (S313A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324266	NM_005640.3(TAF4B):c.169A>G (p.Thr57Ala)	TAF4B (T57A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324265	NM_005640.3(TAF4B):c.17C>T (p.Thr6Ile)	LOC130062319, TAF4B (T6I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324264	NM_005640.3(TAF4B):c.1364C>G (p.Pro455Arg)	TAF4B (P455R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324263	NM_005640.3(TAF4B):c.1969A>G (p.Ile657Val)	TAF4B (I657V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324262	NM_005640.3(TAF4B):c.265C>T (p.Pro89Ser)	TAF4B (P89S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173534	NM_005640.3(TAF4B):c.724G>A (p.Glu242Lys)	TAF4B (E242K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173533	NM_005640.3(TAF4B):c.635C>T (p.Pro212Leu)	TAF4B (P212L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173532	NM_005640.3(TAF4B):c.622G>A (p.Val208Ile)	TAF4B (V208I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173531	NM_005640.3(TAF4B):c.589T>G (p.Ser197Ala)	TAF4B (S197A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173530	NM_005640.3(TAF4B):c.548A>T (p.Gln183Leu)	TAF4B (Q183L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173529	NM_005640.3(TAF4B):c.2113C>A (p.His705Asn)	TAF4B (H710N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173528	NM_005640.3(TAF4B):c.2098A>T (p.Thr700Ser)	TAF4B (T705S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173527	NM_005640.3(TAF4B):c.2054C>G (p.Ser685Cys)	TAF4B (S690C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173526	NM_005640.3(TAF4B):c.191C>A (p.Ser64Tyr)	TAF4B (S64Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173525	NM_005640.3(TAF4B):c.1757G>T (p.Gly586Val)	TAF4B (G586V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173524	NM_005640.3(TAF4B):c.1721C>T (p.Pro574Leu)	TAF4B (P574L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173523	NM_005640.3(TAF4B):c.1720C>A (p.Pro574Thr)	TAF4B (P579T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173521	NM_005640.3(TAF4B):c.1532C>T (p.Pro511Leu)	TAF4B (P511L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173520	NM_005640.3(TAF4B):c.1492C>T (p.Pro498Ser)	TAF4B (P498S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173519	NM_005640.3(TAF4B):c.1252A>G (p.Thr418Ala)	TAF4B (T418A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3173518	NM_005640.3(TAF4B):c.1181A>G (p.Gln394Arg)	TAF4B (Q394R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063559	GRCh37/hg19 18q11.1-12.1(chr18:18529339-26968022)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not specified	GUncertain significance
Select item 3063549	GRCh37/hg19 18q11.2(chr18:23648402-24053824)x3	KCTD1, PSMA8 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3055962	NM_005640.3(TAF4B):c.1312G>C (p.Val438Leu)	TAF4B (V438L)	Single nucleotide variant (missense variant +1 more)	TAF4B-related disorder	GBenign
Select item 3055603	NM_005640.3(TAF4B):c.1992T>C (p.Ile664=)	TAF4B	Single nucleotide variant (synonymous variant +1 more)	TAF4B-related disorder	GBenign
Select item 3052440	NM_005640.3(TAF4B):c.2317-4C>T	TAF4B	Single nucleotide variant (intron variant)	TAF4B-related disorder	GLikely benign
Select item 3045392	NM_005640.3(TAF4B):c.1833-9_1833-8del	TAF4B	Deletion (intron variant)	TAF4B-related disorder	GLikely benign
Select item 3041090	NM_005640.3(TAF4B):c.1619A>C (p.Glu540Ala)	TAF4B (E540A +1 more)	Single nucleotide variant (missense variant +1 more)	TAF4B-related disorder	GLikely benign
Select item 3035652	NM_005640.3(TAF4B):c.1023C>T (p.Ile341=)	TAF4B	Single nucleotide variant (synonymous variant +1 more)	TAF4B-related disorder	GLikely benign
Select item 2648626	NM_005640.3(TAF4B):c.1695C>T (p.Asn565=)	TAF4B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648625	NM_005640.3(TAF4B):c.1379C>T (p.Thr460Ile)	TAF4B (T460I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2648624	NM_005640.3(TAF4B):c.886G>A (p.Ala296Thr)	TAF4B (A296T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2610683	NM_005640.3(TAF4B):c.1691T>C (p.Val564Ala)	TAF4B (V564A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609296	NM_005640.3(TAF4B):c.2032T>C (p.Ser678Pro)	TAF4B (S683P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609046	NM_005640.3(TAF4B):c.1610G>A (p.Gly537Glu)	TAF4B (G537E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593660	NM_005640.3(TAF4B):c.1346C>T (p.Ser449Leu)	TAF4B (S449L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591171	NM_005640.3(TAF4B):c.2026C>G (p.Leu676Val)	TAF4B (L681V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589887	NM_005640.3(TAF4B):c.1699A>G (p.Ile567Val)	TAF4B (I572V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2559465	NM_005640.3(TAF4B):c.1439G>T (p.Cys480Phe)	TAF4B (C480F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556262	NM_005640.3(TAF4B):c.2380A>G (p.Ile794Val)	TAF4B (I794V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551033	NM_005640.3(TAF4B):c.748A>G (p.Asn250Asp)	TAF4B (N250D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550944	NM_005640.3(TAF4B):c.1839G>C (p.Glu613Asp)	TAF4B (E613D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527700	NM_005640.3(TAF4B):c.1117T>G (p.Ser373Ala)	TAF4B (S373A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521152	NM_005640.3(TAF4B):c.1156A>G (p.Thr386Ala)	TAF4B (T386A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2512637	NM_005640.3(TAF4B):c.47C>T (p.Ala16Val)	LOC130062319, TAF4B (A16V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495963	NM_005640.3(TAF4B):c.1633A>G (p.Thr545Ala)	TAF4B (T545A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494053	NM_005640.3(TAF4B):c.319C>G (p.Pro107Ala)	TAF4B (P107A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488551	NM_005640.3(TAF4B):c.758C>T (p.Pro253Leu)	TAF4B (P253L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486307	NM_005640.3(TAF4B):c.1025A>G (p.Gln342Arg)	TAF4B (Q342R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484352	NM_005640.3(TAF4B):c.2099C>T (p.Thr700Ile)	TAF4B (T700I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480933	NM_005640.3(TAF4B):c.1627G>C (p.Val543Leu)	TAF4B (V543L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474606	NM_005640.3(TAF4B):c.592G>A (p.Val198Ile)	TAF4B (V198I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466342	NM_005640.3(TAF4B):c.1399C>G (p.Pro467Ala)	TAF4B (P467A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454436	NM_005640.3(TAF4B):c.1997A>G (p.Asp666Gly)	TAF4B (D666G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410466	NM_005640.3(TAF4B):c.488C>T (p.Pro163Leu)	TAF4B (P163L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386853	NM_005640.3(TAF4B):c.494C>G (p.Ser165Cys)	TAF4B (S165C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378055	NM_005640.3(TAF4B):c.1198G>T (p.Ala400Ser)	TAF4B (A400S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365264	NM_005640.3(TAF4B):c.1220C>T (p.Ala407Val)	TAF4B (A407V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337402	NM_005640.3(TAF4B):c.128G>A (p.Gly43Asp)	LOC130062319, TAF4B (G43D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313089	NM_005640.3(TAF4B):c.2267C>G (p.Ser756Cys)	TAF4B (S756C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304454	NM_005640.3(TAF4B):c.1182A>C (p.Gln394His)	TAF4B (Q394H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304453	NM_005640.3(TAF4B):c.106G>A (p.Glu36Lys)	LOC130062319, TAF4B (E36K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289362	NM_005640.3(TAF4B):c.248G>T (p.Ser83Ile)	TAF4B (S83I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288241	NM_005640.3(TAF4B):c.1064C>T (p.Ala355Val)	TAF4B (A355V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274238	NM_005640.3(TAF4B):c.338C>T (p.Pro113Leu)	TAF4B (P113L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258590	NM_005640.3(TAF4B):c.1768C>A (p.Leu590Met)	TAF4B (L595M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257544	NM_005640.3(TAF4B):c.2114A>G (p.His705Arg)	TAF4B (H710R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241895	NM_005640.3(TAF4B):c.1174T>A (p.Ser392Thr)	TAF4B (S392T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211912	NM_005640.3(TAF4B):c.2498C>T (p.Thr833Met)	TAF4B (T833M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206689	NM_005640.3(TAF4B):c.196G>A (p.Val66Met)	TAF4B (V66M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1341053	GRCh37/hg19 18q11.2-12.1(chr18:23050629-26026370)x3	AQP4, CDH2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1340068	GRCh37/hg19 18q11.1-12.1(chr18:18611942-26843691)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not provided	GUncertain significance
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 983154	GRCh37/hg19 18q11.2-12.2(chr18:23971647-33737300)x1	AQP4, ASXL3 +35 more	Copy number loss	See cases	GPathogenic
Select item 979688	GRCh37/hg19 18q11.2-12.1(chr18:23586307-25193192)x1	KCTD1, TAF4B +4 more	Copy number loss	not provided	GUncertain significance
Select item 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 815998	GRCh37/hg19 18q11.2-12.2(chr18:22868759-34335753)x1	AQP4, ASXL3 +40 more	Copy number loss	not provided	GPathogenic
Select item 786339	NM_005640.3(TAF4B):c.147T>C (p.Pro49=)	LOC130062319, TAF4B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 778770	NM_005640.3(TAF4B):c.995A>G (p.Gln332Arg)	TAF4B (Q332R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 778769	NM_005640.3(TAF4B):c.130G>C (p.Ala44Pro)	LOC130062319, TAF4B (A44P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 773894	NM_005640.3(TAF4B):c.1125G>T (p.Gln375His)	TAF4B (Q375H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 751110	NM_005640.3(TAF4B):c.654T>C (p.Thr218=)	TAF4B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 748624	NM_005640.3(TAF4B):c.585T>G (p.Pro195=)	TAF4B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 734862	NM_005640.3(TAF4B):c.282C>T (p.Val94=)	TAF4B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 725349	NM_005640.3(TAF4B):c.1335G>A (p.Val445=)	TAF4B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 717521	NM_005640.3(TAF4B):c.972+5A>G	TAF4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 714747	NM_005640.3(TAF4B):c.455C>T (p.Ala152Val)	TAF4B (A152V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 714746	NM_005640.3(TAF4B):c.454G>A (p.Ala152Thr)	TAF4B (A152T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 712134	NM_005640.3(TAF4B):c.991C>A (p.Arg331=)	TAF4B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 711702	NM_005640.3(TAF4B):c.745A>G (p.Ile249Val)	TAF4B (I249V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 708963	NM_005640.3(TAF4B):c.1086A>G (p.Thr362=)	TAF4B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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