EML3[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149385	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3	AHNAK, ASRGL1 +110 more	Copy number gain	See cases	GPathogenic
Select item 59754	GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3	AHNAK, B3GAT3 +105 more	Copy number gain	See cases	GPathogenic
Select item 59755	GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3	AHNAK, B3GAT3 +95 more	Copy number gain	See cases	GPathogenic
Select item 145432	GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3	B3GAT3, BSCL2 +70 more	Copy number gain	See cases	GUncertain significance
Select item 3275336	NM_153265.3(EML3):c.2685C>A (p.Asp895Glu)	EML3 (D895E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241377	NM_153265.3(EML3):c.2645C>T (p.Pro882Leu)	EML3 (P883L +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3275338	NM_153265.3(EML3):c.2617G>A (p.Gly873Arg)	EML3 (W836* +3 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 2494609	NM_153265.3(EML3):c.2547C>G (p.His849Gln)	EML3 (R813G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346360	NM_153265.3(EML3):c.2501T>G (p.Met834Arg)	EML3 (M835R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617788	NM_153265.3(EML3):c.2411A>G (p.His804Arg)	EML3 (H805R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557102	NM_153265.3(EML3):c.2263G>A (p.Val755Met)	EML3 (V755M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088674	NM_153265.3(EML3):c.2093G>T (p.Gly698Val)	EML3 (G698V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088673	NM_153265.3(EML3):c.2092G>T (p.Gly698Cys)	EML3 (G699C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343622	NM_153265.3(EML3):c.2079G>T (p.Leu693Phe)	EML3 (L694F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275337	NM_153265.3(EML3):c.1963G>A (p.Val655Ile)	EML3 (V655I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275341	NM_153265.3(EML3):c.1939C>T (p.His647Tyr)	EML3 (H647Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589663	NM_153265.3(EML3):c.1903A>C (p.Ile635Leu)	EML3 (I636L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469524	NM_153265.3(EML3):c.1855C>T (p.Arg619Trp)	EML3 (R619W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088672	NM_153265.3(EML3):c.1820C>T (p.Pro607Leu)	EML3 (P607L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561760	NM_153265.3(EML3):c.1687A>G (p.Ile563Val)	EML3 (I564V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204821	NM_153265.3(EML3):c.1679T>C (p.Val560Ala)	EML3 (V560A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088670	NM_153265.3(EML3):c.1678G>A (p.Val560Met)	EML3 (V560M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509381	NM_153265.3(EML3):c.1619A>G (p.Gln540Arg)	EML3 (Q540R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088669	NM_153265.3(EML3):c.1610G>A (p.Arg537Gln)	EML3 (R537Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285941	NM_153265.3(EML3):c.1495G>A (p.Gly499Ser)	EML3 (G500S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275340	NM_153265.3(EML3):c.1493G>T (p.Gly498Val)	EML3 (G498V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539247	NM_153265.3(EML3):c.1477A>G (p.Lys493Glu)	EML3 (K493E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275339	NM_153265.3(EML3):c.1416C>G (p.Asp472Glu)	EML3 (D472E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410601	NM_153265.3(EML3):c.1406C>T (p.Pro469Leu)	EML3 (P470L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088668	NM_153265.3(EML3):c.1306G>A (p.Gly436Ser)	EML3 (G436S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241523	NM_153265.3(EML3):c.1247G>A (p.Arg416His)	EML3, LOC130005839 (R416H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088667	NM_153265.3(EML3):c.1135G>T (p.Val379Leu)	EML3 (V379L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469872	NM_153265.3(EML3):c.1097C>T (p.Ala366Val)	EML3 (A367V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218068	NM_153265.3(EML3):c.1079G>A (p.Arg360Gln)	EML3 (R360Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543573	NM_153265.3(EML3):c.1054G>A (p.Glu352Lys)	EML3 (E352K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088666	NM_153265.3(EML3):c.1012G>A (p.Val338Met)	EML3 (V339M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288725	NM_153265.3(EML3):c.872G>T (p.Gly291Val)	EML3 (G292V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280584	NM_153265.3(EML3):c.853C>T (p.Arg285Trp)	EML3 (R285W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545707	NM_153265.3(EML3):c.724G>C (p.Gly242Arg)	EML3 (G243R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455254	NM_153265.3(EML3):c.719C>T (p.Pro240Leu)	EML3 (P240L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088678	NM_153265.3(EML3):c.582C>G (p.Asp194Glu)	EML3 (D194E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275342	NM_153265.3(EML3):c.575G>A (p.Gly192Glu)	EML3 (G192E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088677	NM_153265.3(EML3):c.568C>T (p.Arg190Cys)	EML3 (R191C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088676	NM_153265.3(EML3):c.532G>T (p.Ala178Ser)	EML3 (A179S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371284	NM_153265.3(EML3):c.523A>G (p.Ile175Val)	EML3 (I176V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088675	NM_153265.3(EML3):c.487T>C (p.Ser163Pro)	EML3 (S163P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269468	NM_153265.3(EML3):c.406C>T (p.Pro136Ser)	EML3 (P136S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248001	NM_153265.3(EML3):c.329A>G (p.Gln110Arg)	EML3 (Q111R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619804	NM_153265.3(EML3):c.316C>T (p.Pro106Ser)	EML3 (P106S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526721	NM_153265.3(EML3):c.302G>A (p.Gly101Asp)	EML3 (G101D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088671	NM_153265.3(EML3):c.181C>T (p.Pro61Ser)	EML3 (P61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255944	NM_153265.3(EML3):c.175C>G (p.Pro59Ala)	EML3 (P59A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285387	NM_153265.3(EML3):c.166T>C (p.Ser56Pro)	EML3 (S56P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2325445	NM_153265.3(EML3):c.7G>T (p.Gly3Trp)	EML3 (G3W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230463	NM_153265.3(EML3):c.7G>A (p.Gly3Arg)	EML3 (G3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 879335	NM_000327.3(ROM1):c.-542C>T	EML3, ROM1	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 879336	NM_000327.3(ROM1):c.-527G>A	EML3, ROM1	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 3244738	NC_000011.9:g.(?_62105450)_(62414071_?)dup	AHNAK, ASRGL1 +8 more	Duplication	not provided	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 689150	GRCh37/hg19 11q12.3(chr11:62314663-62788240)x3	B3GAT3, BSCL2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 394819	GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1	AHNAK, ASRGL1 +47 more	Copy number loss	See cases	GLikely pathogenic

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Items: 69