"GeneDx"[submitter] AND "EML1"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 57812	GRCh38/hg38 14q32.2(chr14:96920270-100178956)x1	BCL11B, CCDC85C +81 more	Copy number loss	See cases	GPathogenic
Select item 1286842	NM_004434.3(EML1):c.250+4G>A	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1255382	NM_004434.3(EML1):c.276T>C (p.Pro92=)	EML1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1304205	NM_004434.3(EML1):c.356A>G (p.Lys119Arg)	EML1 (K106R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 1178363	NM_004434.3(EML1):c.518+96G>C	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1278439	NM_004434.3(EML1):c.654C>G (p.Thr218=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 1256996	NM_004434.3(EML1):c.1104+113G>A	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1259368	NM_004434.3(EML1):c.1495-226G>A	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250028	NM_004434.3(EML1):c.1495-120A>T	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255383	NM_004434.3(EML1):c.1666T>C (p.Ser556Pro)	EML1 (S543P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1294703	NM_004434.3(EML1):c.1753-156C>G	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289785	NM_004434.3(EML1):c.1753-86TG[2]	EML1	Microsatellite (intron variant)	not provided	GBenign
Select item 1179720	NM_004434.3(EML1):c.1820+46A>C	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257286	NM_004434.3(EML1):c.2095+144G>A	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269270	NM_004434.3(EML1):c.2095+157G>T	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251656	NM_004434.3(EML1):c.2096-87A>G	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288771	NM_004434.3(EML1):c.2191+102T>C	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1700359	NM_004434.3(EML1):c.2255A>C (p.Lys752Thr)	EML1, LOC126862047 (K708T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1245098	NM_004434.3(EML1):c.2322+93C>T	EML1, LOC126862047	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229588	NM_004434.3(EML1):c.2323-131T>A	EML1, LOC126862047	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 41