ClinVar for Gene (Select 7528) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3342501	NM_003403.5(YY1):c.1148A>G (p.Tyr383Cys)	YY1 (Y383C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3342304	NM_003403.5(YY1):c.943A>G (p.Lys315Glu)	YY1 (K315E)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3340625	NM_003403.5(YY1):c.1123C>T (p.Arg375Ter)	YY1 (R375*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3337751	NM_003403.5(YY1):c.1117C>T (p.His373Tyr)	YY1 (H373Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 3253341	NM_003403.5(YY1):c.281C>T (p.Pro94Leu)	YY1 (P94L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244102	NC_000014.8:g.(?_99375322)_(101142891_?)dup	BCL11B, BEGAIN +13 more	Duplication	not provided	GUncertain significance
Select item 3236170	NM_003403.5(YY1):c.1147_1151dup (p.Cys385fs)	YY1 (C385fs)	Duplication (frameshift variant)	Gabriele de Vries syndrome	GPathogenic
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 3191680	NM_003403.5(YY1):c.700C>T (p.His234Tyr)	YY1 (H234Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3191678	NM_003403.5(YY1):c.199C>G (p.His67Asp)	YY1 (H67D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 3063330	GRCh37/hg19 14q32.2(chr14:100678749-101242671)x1	BEGAIN, DLK1 +5 more	Copy number loss	not specified	GPathogenic
Select item 3063318	GRCh37/hg19 14q32.2-32.32(chr14:97705251-103682578)x3	AMN, ANKRD9 +54 more	Copy number gain	not specified	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 3057674	NM_003403.5(YY1):c.954C>T (p.His318=)	YY1	Single nucleotide variant (synonymous variant)	YY1-related disorder	GLikely benign
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 3031941	NM_003403.5(YY1):c.*9G>A	YY1	Single nucleotide variant (3 prime UTR variant)	YY1-related disorder	GLikely benign
Select item 3031423	NM_003403.5(YY1):c.904-4T>C	YY1	Single nucleotide variant (intron variant)	YY1-related disorder	GLikely benign
Select item 3026404	NM_003403.5(YY1):c.1167T>C (p.Gly389=)	YY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025237	NM_003403.5(YY1):c.1134C>T (p.Thr378=)	YY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2684746	GRCh37/hg19 14q32.2(chr14:100744130-100910267)x3	SLC25A29, SLC25A47 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
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 2663419	NM_003403.5(YY1):c.952C>T (p.His318Tyr)	YY1 (H318Y)	Single nucleotide variant (missense variant)	not provided	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 2644521	NM_003403.5(YY1):c.225T>C (p.His75=)	YY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644520	NM_003403.5(YY1):c.201C>T (p.His67=)	YY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2634433	NM_003403.5(YY1):c.989G>A (p.Cys330Tyr)	YY1 (C330Y)	Single nucleotide variant (missense variant)	YY1-related disorder	GUncertain significance
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 2627588	NM_003403.5(YY1):c.1192A>G (p.Thr398Ala)	YY1 (T398A)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely pathogenic
Select item 2627267	NM_003403.5(YY1):c.221_241del (p.His74_His80del)	YY1	Deletion (inframe_deletion)	not specified	GUncertain significance
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 2579817	NM_003403.5(YY1):c.31A>T (p.Thr11Ser)	YY1 (T11S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578330	GRCh37/hg19 14q32.2-32.31(chr14:100397006-101488936)x1	BEGAIN, DEGS2 +25 more	Copy number loss	Motor developmental delay due to 14q32.2 paternally expressed gene defect	GPathogenic
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 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 2444518	NM_003403.5(YY1):c.458_476del (p.Val153fs)	YY1 (V153fs)	Deletion (frameshift variant)	Gabriele de Vries syndrome	GPathogenic
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 2441948	NM_003403.5(YY1):c.1112G>A (p.Arg371His)	YY1 (R371H)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely pathogenic
Select item 2438636	NM_003403.5(YY1):c.194A>G (p.His65Arg)	YY1 (H65R)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2438635	NM_003403.5(YY1):c.168_185del (p.Asp58_Gly63del)	YY1	Deletion (inframe_deletion)	Gabriele de Vries syndrome +1 more	GConflicting classifications of pathogenicity
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 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 2430478	NM_003403.5(YY1):c.293A>G (p.His98Arg)	YY1 (H98R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2386037	NM_003403.5(YY1):c.207CCA[4] (p.His79_His80del)	YY1	Microsatellite (inframe_deletion)	Inborn genetic diseases	GLikely benign
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 2240013	NM_003403.5(YY1):c.578C>T (p.Ala193Val)	YY1 (A193V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2229662	NM_003403.5(YY1):c.14A>C (p.Asp5Ala)	YY1 (D5A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1879285	NM_003403.5(YY1):c.176_181del (p.His59_Gly61delinsArg)	YY1	Deletion (inframe_indel)	not provided	GLikely benign
Select item 1809912	NM_003403.5(YY1):c.1165G>A (p.Gly389Ser)	YY1 (G389S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
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 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 1710183	NM_003403.5(YY1):c.1062G>A (p.Gln354=)	YY1	Single nucleotide variant (synonymous variant)	Gabriele de Vries syndrome	GLikely pathogenic
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 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1703497	NM_003403.5(YY1):c.1114A>C (p.Thr372Pro)	YY1 (T372P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1701903	NM_003403.5(YY1):c.1150G>A (p.Val384Met)	YY1 (V384M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
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 1701244	NM_003403.5(YY1):c.144CGA[2] (p.Asp50_Asp51del)	YY1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
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 1679404	NM_003403.5(YY1):c.1121T>G (p.Val374Gly)	YY1 (V374G)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely pathogenic
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 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 1340262	GRCh37/hg19 14q32.13-32.31(chr14:95871795-102457523)x1	AK7, ATG2B +56 more	Copy number loss	not provided	GPathogenic
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 1331552	NM_003403.5(YY1):c.1124G>A (p.Arg375Gln)	YY1 (R375Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1331550	NM_003403.5(YY1):c.690dup (p.Asp231fs)	YY1 (D231fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 1321254	NM_003403.5(YY1):c.1106A>G (p.Asn369Ser)	YY1 (N369S)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GPathogenic
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 1186721	NM_003403.5(YY1):c.1111C>T (p.Arg371Cys)	YY1 (R371C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1184871	NM_003403.5(YY1):c.1220A>G (p.His407Arg)	YY1 (H407R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1162319	NM_003403.5(YY1):c.690del (p.Asp231fs)	YY1 (D231fs)	Deletion (frameshift variant)	Gabriele de Vries syndrome	GPathogenic
Select item 1053301	NM_003403.5(YY1):c.1114A>G (p.Thr372Ala)	YY1 (T372A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 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 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 985714	NM_003403.5(YY1):c.1159_1161del (p.Phe387del)	YY1 (F387del)	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
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 985223	NM_003403.5(YY1):c.468_483del (p.Gly157fs)	YY1 (G157fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 980621	GRCh37/hg19 14q32.2(chr14:100655021-100742092)x1	YY1	Copy number loss	not provided	GLikely pathogenic
Select item 976756	NM_003403.5(YY1):c.1118A>G (p.His373Arg)	YY1 (H373R)	Single nucleotide variant (missense variant)	Gabriele de Vries syndrome	GLikely pathogenic
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 931670	NM_003403.5(YY1):c.207CCA[7] (p.His80dup)	YY1	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 929832	GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1	KIF26A, KLC1 +112 more	Copy number loss	See cases	GPathogenic
Select item 817604	NM_003403.5(YY1):c.385del (p.Asp129fs)	YY1 (D129fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 813332	GRCh37/hg19 14q32.2(chr14:100317190-101012999)	BEGAIN, DEGS2 +7 more	Copy number loss	Gabriele de Vries syndrome	GPathogenic

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