"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "EML1"[g - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1579199	NM_004434.3(EML1):c.150C>T (p.Asp50=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2715668	NM_004434.3(EML1):c.251-8T>C	EML1	Single nucleotide variant (intron variant)	not provided	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 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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2870876	NM_004434.3(EML1):c.383+11A>G	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2169839	NM_004434.3(EML1):c.384-9C>T	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 777437	NM_004434.3(EML1):c.518+9G>A	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1976521	NM_004434.3(EML1):c.518+14A>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 1278439	NM_004434.3(EML1):c.654C>G (p.Thr218=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1971201	NM_004434.3(EML1):c.677+15T>C	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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)	not provided	GLikely benign
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 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)	not provided	GBenign
Select item 2040530	NM_004434.3(EML1):c.937T>C (p.Leu313=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 798880	NM_004434.3(EML1):c.1009-10T>G	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1417354	NM_004434.3(EML1):c.1106G>T (p.Cys369Phe)	EML1 (C388F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 2069158	NM_004434.3(EML1):c.1225C>G (p.Gln409Glu)	EML1 (Q428E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2105552	NM_004434.3(EML1):c.1230A>G (p.Gly410=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2003773	NM_004434.3(EML1):c.1340-5T>C	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 754280	NM_004434.3(EML1):c.1452C>T (p.Leu484=)	EML1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 792340	NM_004434.3(EML1):c.1464C>T (p.Ser488=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868594	NM_004434.3(EML1):c.1491G>A (p.Thr497=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2705091	NM_004434.3(EML1):c.1494+11A>G	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2775579	NM_004434.3(EML1):c.1495-14A>G	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950561	NM_004434.3(EML1):c.1530C>T (p.Ala510=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721505	NM_004434.3(EML1):c.1543G>A (p.Asp515Asn)	EML1 (D502N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 741989	NM_004434.3(EML1):c.1560C>T (p.Gly520=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1994638	NM_004434.3(EML1):c.1602C>T (p.Asp534=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 734840	NM_004434.3(EML1):c.1713C>T (p.Asp571=)	EML1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2133786	NM_004434.3(EML1):c.1715_1735delinsAGAC (p.Ala572fs)	EML1 (A559fs +2 more)	Indel (frameshift variant +1 more)	not provided	GPathogenic
Select item 2131125	NM_004434.3(EML1):c.1722T>A (p.Gly574=)	EML1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2918422	NM_004434.3(EML1):c.1731C>T (p.Pro577=)	EML1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1971098	NM_004434.3(EML1):c.1752+16A>G	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 722400	NM_004434.3(EML1):c.1794G>A (p.Val598=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2899628	NM_004434.3(EML1):c.1803C>T (p.Val601=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1960489	NM_004434.3(EML1):c.1820+7C>G	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805191	NM_004434.3(EML1):c.1820+10T>C	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971007	NM_004434.3(EML1):c.1820+16C>T	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 739657	NM_004434.3(EML1):c.1860C>T (p.Thr620=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803817	NM_004434.3(EML1):c.1887C>T (p.Leu629=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869955	NM_004434.3(EML1):c.1941C>G (p.Asp647Glu)	EML1 (D603E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709683	NM_004434.3(EML1):c.1975G>A (p.Gly659Arg)	EML1 (G615R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716012	NM_004434.3(EML1):c.1989G>A (p.Thr663=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2128551	NM_004434.3(EML1):c.2007+7G>A	EML1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2366027	NM_004434.3(EML1):c.2062G>A (p.Val688Met)	EML1 (V707M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 744997	NM_004434.3(EML1):c.2082C>T (p.Tyr694=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863330	NM_004434.3(EML1):c.2095+18del	EML1	Deletion (intron variant)	not provided	GBenign
Select item 2864634	NM_004434.3(EML1):c.2121C>T (p.Val707=)	EML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007311	NM_004434.3(EML1):c.2150A>C (p.Glu717Ala)	EML1 (E673A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 776861	NM_004434.3(EML1):c.2191+8T>G	EML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1970989	NM_004434.3(EML1):c.2192-15T>C	EML1, LOC126862047	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2069082	NM_004434.3(EML1):c.2205A>G (p.Glu735=)	EML1, LOC126862047	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714020	NM_004434.3(EML1):c.2214C>T (p.Asp738=)	EML1, LOC126862047	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742466	NM_004434.3(EML1):c.2220C>G (p.Thr740=)	EML1, LOC126862047	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774911	NM_004434.3(EML1):c.2246A>G (p.His749Arg)	EML1, LOC126862047 (H736R +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2718759	NM_004434.3(EML1):c.2271C>T (p.Gly757=)	EML1, LOC126862047	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890871	NM_004434.3(EML1):c.2274C>T (p.Asp758=)	EML1, LOC126862047	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868211	NM_004434.3(EML1):c.2322+12G>A	EML1, LOC126862047	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2038113	NM_004434.3(EML1):c.2323-19C>T	EML1, LOC126862047	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 727495	NM_004434.3(EML1):c.2406G>A (p.Thr802=)	EML1, LOC126862047	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2173911	NM_004434.3(EML1):c.2409C>T (p.Gly803=)	EML1, LOC126862047	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3244102	NC_000014.8:g.(?_99375322)_(101142891_?)dup	BCL11B, BEGAIN +13 more	Duplication	not provided	GUncertain significance
Select item 2425114	NC_000014.8:g.(?_100259814)_(100406449_?)dup	EML1	Duplication	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 88