2009[geneid] - 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	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ESRRB, EVL +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	ZFYVE21, ZNF839 +662 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	SNORD114-11, SNORD114-12 +754 more	Copy number loss	See cases	GPathogenic
Select item 57812	GRCh38/hg38 14q32.2(chr14:96920270-100178956)x1	BCL11B, CCDC85C +81 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056455, LOC130056456 +670 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	ADSS1, AHNAK2 +666 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	ADSS1, AHNAK2 +653 more	Copy number gain	See cases	GPathogenic
Select item 153097	GRCh38/hg38 14q32.2-32.31(chr14:99794337-100944567)x1	LOC125078039, LOC126862047 +96 more	Copy number loss	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	LOC130056511, LOC130056512 +631 more	Copy number loss	See cases	GPathogenic
Select item 2548526	NM_004434.3(EML1):c.121C>G (p.Leu41Val)	EML1 (L41V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1710368	NM_004434.3(EML1):c.136C>T (p.Gln46Ter)	EML1 (Q33* +1 more)	Single nucleotide variant (nonsense)	Band heterotopia of brain	GLikely pathogenic
Select item 2229243	NM_004434.3(EML1):c.139A>C (p.Met47Leu)	EML1 (M47L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1579199	NM_004434.3(EML1):c.150C>T (p.Asp50=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2308390	NM_004434.3(EML1):c.151G>A (p.Asp51Asn)	EML1 (D51N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303643	NM_004434.3(EML1):c.173C>G (p.Ala58Gly)	EML1 (A45G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2134081	NM_004434.3(EML1):c.195G>A (p.Arg65=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2188654	NM_004434.3(EML1):c.207T>C (p.Thr69=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2161771	NM_004434.3(EML1):c.222C>T (p.Ala74=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1286842	NM_004434.3(EML1):c.250+4G>A	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3045998	NM_004434.3(EML1):c.250+6C>T	EML1	Single nucleotide variant (intron variant)	EML1-related condition	GLikely benign
Select item 1270654	NM_004434.3(EML1):c.250+100G>A	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239132	NM_004434.3(EML1):c.251-196G>A	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2715668	NM_004434.3(EML1):c.251-8T>C	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3046559	NM_004434.3(EML1):c.253A>C (p.Arg85=)	EML1	Single nucleotide variant (synonymous variant)	EML1-related condition	GLikely benign
Select item 1255382	NM_004434.3(EML1):c.276T>C (p.Pro92=)	EML1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 740438	NM_004434.3(EML1):c.288G>A (p.Thr96=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2378877	NM_004434.3(EML1):c.293A>G (p.Asn98Ser)	EML1 (N98S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 708175	NM_004434.3(EML1):c.326G>A (p.Gly109Asp)	EML1 (G96D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2032071	NM_004434.3(EML1):c.340C>G (p.Pro114Ala)	EML1 (P114A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 744091	NM_004434.3(EML1):c.345C>T (p.Ser115=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1304205	NM_004434.3(EML1):c.356A>G (p.Lys119Arg)	EML1 (K106R +1 more)	Single nucleotide variant (missense variant)	EML1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2870876	NM_004434.3(EML1):c.383+11A>G	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241640	NM_004434.3(EML1):c.384-3392A>G	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230733	NM_004434.3(EML1):c.384-3388A>C	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251067	NM_004434.3(EML1):c.384-172C>T	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253553	NM_004434.3(EML1):c.384-124T>C	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2169839	NM_004434.3(EML1):c.384-9C>T	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 254258	NM_004434.3(EML1):c.412C>T (p.Arg138Ter)	EML1 (R138* +1 more)	Single nucleotide variant (nonsense)	Band heterotopia of brain	GPathogenic
Select item 2277696	NM_004434.3(EML1):c.463C>T (p.Arg155Trp)	EML1 (R155W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777437	NM_004434.3(EML1):c.518+9G>A	EML1	Single nucleotide variant (intron variant)	EML1-related condition +1 more	GBenign/Likely benign
Select item 1976521	NM_004434.3(EML1):c.518+14A>G	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178363	NM_004434.3(EML1):c.518+96G>C	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3052392	NM_004434.3(EML1):c.519-9T>C	EML1	Single nucleotide variant (intron variant)	EML1-related condition	GLikely benign
Select item 1220865	NM_004434.3(EML1):c.547+79C>T	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294683	NM_004434.3(EML1):c.548-111A>G	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1418943	NC_000014.9:g.99894629AAG[1]	EML1	Microsatellite	not provided	GUncertain significance
Select item 2635040	NM_004434.3(EML1):c.575G>A (p.Arg192His)	EML1 (R179H +2 more)	Single nucleotide variant (missense variant)	EML1-related condition	GUncertain significance
Select item 2323291	NM_004434.3(EML1):c.638A>G (p.Lys213Arg)	EML1 (K232R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1278439	NM_004434.3(EML1):c.654C>G (p.Thr218=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 254260	NM_004434.3(EML1):c.673T>C (p.Trp225Arg)	EML1 (W225R +1 more)	Single nucleotide variant (missense variant)	Band heterotopia of brain	GPathogenic
Select item 1971201	NM_004434.3(EML1):c.677+15T>C	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272816	NM_004434.3(EML1):c.677+210C>T	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247254	NM_004434.3(EML1):c.678-228A>C	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175447	NM_004434.3(EML1):c.678-216T>C	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259536	NM_004434.3(EML1):c.678-146T>C	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3052796	NM_004434.3(EML1):c.726G>A (p.Pro242=)	EML1	Single nucleotide variant (synonymous variant)	EML1-related condition	GLikely benign
Select item 254259	NM_004434.3(EML1):c.727A>G (p.Thr243Ala)	EML1 (T243A +1 more)	Single nucleotide variant (missense variant)	Band heterotopia of brain	GPathogenic
Select item 2754922	NM_004434.3(EML1):c.753_765del (p.Ser252fs)	EML1 (S271fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 766712	NM_004434.3(EML1):c.756C>T (p.Ser252=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764303	NM_004434.3(EML1):c.801C>T (p.Tyr267=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903752	NM_004434.3(EML1):c.813C>T (p.Asn271=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 762506	NM_004434.3(EML1):c.819C>T (p.Asp273=)	EML1	Single nucleotide variant (synonymous variant)	EML1-related condition +1 more	GLikely benign
Select item 1281793	NM_004434.3(EML1):c.827+40G>C	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282835	NM_004434.3(EML1):c.827+41A>G	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276981	NM_004434.3(EML1):c.828-167T>C	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1985650	NM_004434.3(EML1):c.828-10C>A	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 751882	NM_004434.3(EML1):c.834A>T (p.Ala278=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737087	NM_004434.3(EML1):c.855G>A (p.Thr285=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416720	NM_004434.3(EML1):c.875C>T (p.Ala292Val)	EML1 (A279V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2211408	NM_004434.3(EML1):c.878G>A (p.Gly293Asp)	EML1 (G312D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2644513	NM_004434.3(EML1):c.882A>G (p.Thr294=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2415815	NM_004434.3(EML1):c.885G>A (p.Ser295=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715034	NM_004434.3(EML1):c.897+9C>T	EML1	Single nucleotide variant (intron variant)	EML1-related condition +1 more	GBenign
Select item 2644514	NM_004434.3(EML1):c.924G>A (p.Trp308Ter)	EML1 (W295* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2040530	NM_004434.3(EML1):c.937T>C (p.Leu313=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1805488	NM_004434.3(EML1):c.941A>G (p.Asn314Ser)	EML1 (N301S +2 more)	Single nucleotide variant (missense variant)	Band heterotopia of brain	GUncertain significance
Select item 798880	NM_004434.3(EML1):c.1009-10T>G	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2343111	NM_004434.3(EML1):c.1022A>G (p.Asn341Ser)	EML1 (N341S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2005391	NM_004434.3(EML1):c.1031C>T (p.Ala344Val)	EML1 (A344V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036241	NM_004434.3(EML1):c.1035G>A (p.Val345=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731295	NM_004434.3(EML1):c.1047C>T (p.Asn349=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2184299	NM_004434.3(EML1):c.1053T>C (p.His351=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1256996	NM_004434.3(EML1):c.1104+113G>A	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1417354	NM_004434.3(EML1):c.1106G>T (p.Cys369Phe)	EML1 (C388F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1273877	NM_004434.3(EML1):c.1130C>T (p.Ala377Val)	EML1 (A364V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 755976	NM_004434.3(EML1):c.1146G>A (p.Thr382=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2205655	NM_004434.3(EML1):c.1217A>G (p.Asn406Ser)	EML1 (N393S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2069158	NM_004434.3(EML1):c.1225C>G (p.Gln409Glu)	EML1 (Q428E +2 more)	Single nucleotide variant (missense variant)	EML1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2105552	NM_004434.3(EML1):c.1230A>G (p.Gly410=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1229136	NM_004434.3(EML1):c.1240-77C>T	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272800	NM_004434.3(EML1):c.1339+37G>A	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220552	NM_004434.3(EML1):c.1340-211A>G	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2003773	NM_004434.3(EML1):c.1340-5T>C	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3057263	NM_004434.3(EML1):c.1398T>C (p.Leu466=)	EML1	Single nucleotide variant (synonymous variant)	EML1-related condition	GLikely benign
Select item 754280	NM_004434.3(EML1):c.1452C>T (p.Leu484=)	EML1	Single nucleotide variant (synonymous variant)	EML1-related condition +2 more	GLikely benign

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