YY1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056604, LOC130056605 +654 more	Copy number gain	See cases	GPathogenic
Select item 153097	GRCh38/hg38 14q32.2-32.31(chr14:99794337-100944567)x1	LOC130056444, LOC130056445 +97 more	Copy number loss	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	See cases	GPathogenic
Select item 154707	GRCh38/hg38 14q32.2-32.31(chr14:99930669-101022599)x1	BEGAIN, DEGS2 +131 more	Copy number loss	See cases	GPathogenic
Select item 152326	GRCh38/hg38 14q32.2(chr14:100236766-100743192)x3	BEGAIN, DLK1 +37 more	Copy number gain	See cases	GUncertain significance
Select item 1029702	NM_003403.5(YY1):c.-5C>T	LOC130056452, YY1	Single nucleotide variant (5 prime UTR variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 2644519	NM_003403.5(YY1):c.9G>A (p.Ser3=)	LOC130056452, YY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2229662	NM_003403.5(YY1):c.14A>C (p.Asp5Ala)	YY1 (D5A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 743296	NM_003403.5(YY1):c.30C>T (p.Ala10=)	YY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579817	NM_003403.5(YY1):c.31A>T (p.Thr11Ser)	YY1 (T11S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712655	NM_003403.5(YY1):c.73G>A (p.Glu25Lys)	YY1 (E25K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716403	NM_003403.5(YY1):c.141G>C (p.Glu47Asp)	YY1 (E47D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1701244	NM_003403.5(YY1):c.144CGA[2] (p.Asp50_Asp51del)	YY1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3191677	NM_003403.5(YY1):c.144C>G (p.Asp48Glu)	YY1 (D48E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2438635	NM_003403.5(YY1):c.168_185del (p.Asp58_Gly63del)	YY1	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2578127	NM_003403.5(YY1):c.167_172del (p.Gly56_Gly57del)	YY1	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 2438633	NM_003403.5(YY1):c.166G>A (p.Gly56Ser)	YY1 (G56S)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 1879285	NM_003403.5(YY1):c.176_181del (p.His59_Gly61delinsArg)	YY1	Deletion (inframe_indel)	not provided	GLikely benign
Select item 2438634	NM_003403.5(YY1):c.188G>A (p.Gly63Asp)	YY1 (G63D)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 954755	NM_003403.5(YY1):c.193C>T (p.His65Tyr)	YY1 (H65Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2438636	NM_003403.5(YY1):c.194A>G (p.His65Arg)	YY1 (H65R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3191678	NM_003403.5(YY1):c.199C>G (p.His67Asp)	YY1 (H67D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2644520	NM_003403.5(YY1):c.201C>T (p.His67=)	YY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 996852	NM_003403.5(YY1):c.202G>A (p.Ala68Thr)	YY1 (A68T)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 931670	NM_003403.5(YY1):c.207CCA[7] (p.His80dup)	YY1	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2627267	NM_003403.5(YY1):c.221_241del (p.His74_His80del)	YY1	Deletion (inframe_deletion)	not specified	GUncertain significance
Select item 2386037	NM_003403.5(YY1):c.207CCA[4] (p.His79_His80del)	YY1	Microsatellite (inframe_deletion)	Inborn genetic diseases	GLikely benign
Select item 3191679	NM_003403.5(YY1):c.209A>C (p.His70Pro)	YY1 (H70P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2644521	NM_003403.5(YY1):c.225T>C (p.His75=)	YY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2222917	NM_003403.5(YY1):c.244C>T (p.Pro82Ser)	YY1 (P82S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253341	NM_003403.5(YY1):c.281C>T (p.Pro94Leu)	YY1 (P94L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430478	NM_003403.5(YY1):c.293A>G (p.His98Arg)	YY1 (H98R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 795809	NM_003403.5(YY1):c.306G>A (p.Glu102=)	YY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3365614	NM_003403.5(YY1):c.323C>G (p.Thr108Arg)	YY1 (T108R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817604	NM_003403.5(YY1):c.385del (p.Asp129fs)	YY1 (D129fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1711084	NM_003403.5(YY1):c.430G>A (p.Asp144Asn)	YY1 (D144N)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 2444518	NM_003403.5(YY1):c.458_476del (p.Val153fs)	YY1 (V153fs)	Deletion (frameshift variant)	Gabriele de Vries syndrome	GPathogenic
Select item 985223	NM_003403.5(YY1):c.468_483del (p.Gly157fs)	YY1 (G157fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 2690488	NM_003403.5(YY1):c.487G>A (p.Gly163Ser)	YY1 (G163S)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely benign
Select item 3368695	NM_003403.5(YY1):c.488G>C (p.Gly163Ala)	YY1 (G163A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1333898	NM_003403.5(YY1):c.514G>T (p.Val172Phe)	LOC130056453, YY1 (V172F)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 1029703	NM_003403.5(YY1):c.527G>A (p.Gly176Asp)	LOC130056453, YY1 (G176D)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely pathogenic
Select item 430621	NM_003403.5(YY1):c.535A>T (p.Lys179Ter)	LOC130056453, YY1 (K179*)	Single nucleotide variant (nonsense)	Gabriele de Vries syndrome	GPathogenic
Select item 2307699	NM_003403.5(YY1):c.541G>T (p.Gly181Cys)	LOC130056453, YY1 (G181C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 545935	NM_003403.5(YY1):c.550_551del (p.Ser184fs)	LOC130056453, YY1 (S184fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2569584	NM_003403.5(YY1):c.550A>G (p.Ser184Gly)	LOC130056453, YY1 (S184G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1029701	NM_003403.5(YY1):c.562G>A (p.Gly188Ser)	YY1 (G188S)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 2644522	NM_003403.5(YY1):c.572G>C (p.Gly191Ala)	YY1 (G191A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2240013	NM_003403.5(YY1):c.578C>T (p.Ala193Val)	YY1 (A193V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3061720	NM_003403.5(YY1):c.581GCG[5] (p.Gly197_Ala198insGly)	YY1	Microsatellite (inframe_indel)	YY1-related disorder	GUncertain significance
Select item 3054464	NM_003403.5(YY1):c.600G>A (p.Pro200=)	YY1	Single nucleotide variant (synonymous variant)	YY1-related disorder	GLikely benign
Select item 1341784	NM_003403.5(YY1):c.608A>G (p.Lys203Arg)	YY1 (K203R)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 3343605	NM_003403.5(YY1):c.635_640del (p.Ile212_Lys213del)	YY1	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 2442758	NM_003403.5(YY1):c.674C>T (p.Ser225Phe)	LOC130056454, YY1 (S225F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331550	NM_003403.5(YY1):c.690dup (p.Asp231fs)	YY1 (D231fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2628533	NM_003403.5(YY1):c.683A>G (p.Glu228Gly)	YY1 (E228G)	Single nucleotide variant (missense variant)	YY1-related disorder	GUncertain significance
Select item 1162319	NM_003403.5(YY1):c.690del (p.Asp231fs)	YY1 (D231fs)	Deletion (frameshift variant)	Gabriele de Vries syndrome	GPathogenic
Select item 3191680	NM_003403.5(YY1):c.700C>T (p.His234Tyr)	YY1 (H234Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1675548	NM_003403.5(YY1):c.727A>G (p.Ile243Val)	YY1 (I243V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309573	NM_003403.5(YY1):c.742C>T (p.Pro248Ser)	YY1 (P248S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068234	NM_003403.5(YY1):c.818C>A (p.Pro273His)	YY1 (P273H)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 3235840	NM_003403.5(YY1):c.838G>T (p.Ala280Ser)	YY1 (A280S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 759598	NM_003403.5(YY1):c.842+9T>C	YY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 150931	GRCh38/hg38 14q32.2-32.31(chr14:100262836-102500697)x1	BEGAIN, CINP +215 more	Copy number loss	See cases	GPathogenic
Select item 432981	NM_003403.5(YY1):c.860_864del (p.Ile287fs)	YY1 (I287fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3031423	NM_003403.5(YY1):c.904-4T>C	YY1	Single nucleotide variant (intron variant)	YY1-related disorder	GLikely benign
Select item 2233453	NM_003403.5(YY1):c.911C>T (p.Thr304Ile)	YY1 (T304I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3342304	NM_003403.5(YY1):c.943A>G (p.Lys315Glu)	YY1 (K315E)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2663419	NM_003403.5(YY1):c.952C>T (p.His318Tyr)	YY1 (H318Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3057674	NM_003403.5(YY1):c.954C>T (p.His318=)	YY1	Single nucleotide variant (synonymous variant)	YY1-related disorder	GLikely benign
Select item 985282	NM_003403.5(YY1):c.956C>T (p.Thr319Ile)	YY1 (T319I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1701832	NM_003403.5(YY1):c.976G>A (p.Val326Ile)	YY1 (V326I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3254940	NM_003403.5(YY1):c.980G>A (p.Cys327Tyr)	YY1 (C327Y)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GPathogenic
Select item 1329515	NM_003403.5(YY1):c.985G>C (p.Glu329Gln)	YY1 (E329Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2634433	NM_003403.5(YY1):c.989G>A (p.Cys330Tyr)	YY1 (C330Y)	Single nucleotide variant (missense variant)	YY1-related disorder	GUncertain significance
Select item 3371245	NM_003403.5(YY1):c.1003G>A (p.Val335Ile)	YY1 (V335I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 520982	NM_003403.5(YY1):c.1015A>C (p.Lys339Gln)	YY1 (K339Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2664162	NM_003403.5(YY1):c.1025G>A (p.Arg342Gln)	YY1 (R342Q)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely pathogenic
Select item 430620	NM_003403.5(YY1):c.1030C>T (p.Gln344Ter)	YY1 (Q344*)	Single nucleotide variant (nonsense)	Gabriele de Vries syndrome	GPathogenic
Select item 1032129	NM_003403.5(YY1):c.1032A>G (p.Gln344=)	YY1	Single nucleotide variant (synonymous variant)	Gabriele de Vries syndrome	GUncertain significance
Select item 1708247	NM_003403.5(YY1):c.1036G>T (p.Val346Phe)	YY1 (V346F)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely pathogenic
Select item 2413123	NM_003403.5(YY1):c.1057T>C (p.Phe353Leu)	YY1 (F353L)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely pathogenic
Select item 1710183	NM_003403.5(YY1):c.1062G>A (p.Gln354=)	YY1	Single nucleotide variant (synonymous variant)	Gabriele de Vries syndrome	GLikely pathogenic
Select item 1679536	NM_003403.5(YY1):c.1062+1G>A	YY1	Single nucleotide variant (splice donor variant)	Gabriele de Vries syndrome	GPathogenic
Select item 430619	NM_003403.5(YY1):c.1096C>G (p.Leu366Val)	YY1 (L366V)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GPathogenic
Select item 430618	NM_003403.5(YY1):c.1097T>C (p.Leu366Pro)	YY1 (L366P)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GPathogenic
Select item 2582783	NM_003403.5(YY1):c.1102T>C (p.Phe368Leu)	YY1 (F368L)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely pathogenic
Select item 1321254	NM_003403.5(YY1):c.1106A>G (p.Asn369Ser)	YY1 (N369S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1186721	NM_003403.5(YY1):c.1111C>T (p.Arg371Cys)	YY1 (R371C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2441948	NM_003403.5(YY1):c.1112G>A (p.Arg371His)	YY1 (R371H)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely pathogenic

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