EML2[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 60278	GRCh38/hg38 19q13.32(chr19:45287256-45734078)x3	CKM, EML2 +69 more	Copy number gain	See cases	GUncertain significance
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 58342	GRCh38/hg38 19q13.32(chr19:45481858-45710518)x1	EML2, EML2-AS1 +34 more	Copy number loss	See cases	GUncertain significance
Select item 57097	GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1	MEIOSIN, MIR330 +115 more	Copy number loss	See cases	GPathogenic
Select item 2650118	NC_000019.10:g.45607375A>C	EML2	Single nucleotide variant	not provided	GLikely benign
Select item 3088659	NM_012155.4(EML2):c.1891A>G (p.Ser631Gly)	EML2 (S515G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088658	NM_012155.4(EML2):c.1887T>A (p.Asp629Glu)	EML2 (D775E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596138	NM_012155.4(EML2):c.1884G>T (p.Trp628Cys)	EML2 (W606C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316670	NM_012155.4(EML2):c.1826C>A (p.Ala609Asp)	EML2 (A493D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540959	NM_012155.4(EML2):c.1818G>T (p.Gln606His)	EML2 (Q606H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299017	NM_012155.4(EML2):c.1747C>T (p.His583Tyr)	EML2 (H561Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592325	NM_012155.4(EML2):c.1679G>A (p.Gly560Glu)	EML2 (G444E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275332	NM_012155.4(EML2):c.1636G>A (p.Ala546Thr)	EML2 (A693T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650119	NM_012155.4(EML2):c.1632G>A (p.Ala544=)	EML2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2308441	NM_012155.4(EML2):c.1601A>T (p.Asp534Val)	EML2 (D680V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613366	NM_012155.4(EML2):c.1600G>T (p.Asp534Tyr)	EML2 (D418Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528333	NM_012155.4(EML2):c.1589T>C (p.Ile530Thr)	EML2 (I508T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088657	NM_012155.4(EML2):c.1571A>G (p.Asn524Ser)	EML2 (N725S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275334	NM_012155.4(EML2):c.1567A>C (p.Thr523Pro)	EML2 (T669P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088656	NM_012155.4(EML2):c.1475G>A (p.Gly492Asp)	EML2 (G638D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543832	NM_012155.4(EML2):c.1421A>G (p.Tyr474Cys)	EML2 (Y358C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262746	NM_012155.4(EML2):c.1412A>C (p.Asp471Ala)	EML2 (D355A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356044	NM_012155.4(EML2):c.1357G>A (p.Val453Met)	EML2 (V431M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458572	NM_012155.4(EML2):c.1273G>A (p.Gly425Ser)	EML2 (G572S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379744	NM_012155.4(EML2):c.1264C>T (p.Arg422Cys)	EML2 (R568C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088655	NM_012155.4(EML2):c.1235T>C (p.Leu412Pro)	EML2 (L412P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594607	NM_012155.4(EML2):c.1151C>T (p.Ala384Val)	EML2 (A268V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279912	NM_012155.4(EML2):c.1137G>T (p.Glu379Asp)	EML2 (E263D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594465	NM_012155.4(EML2):c.1128T>G (p.His376Gln)	EML2 (H260Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324035	NM_012155.4(EML2):c.1057G>A (p.Val353Met)	EML2 (V331M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329252	NM_012155.4(EML2):c.1051C>G (p.Leu351Val)	EML2 (L498V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336093	NM_012155.4(EML2):c.1047C>A (p.Asp349Glu)	EML2 (D349E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522947	NM_012155.4(EML2):c.1022G>A (p.Arg341His)	EML2 (R487H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088654	NM_012155.4(EML2):c.1021C>A (p.Arg341Ser)	EML2 (R487S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218155	NM_012155.4(EML2):c.965G>T (p.Gly322Val)	EML2 (G469V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088653	NM_012155.4(EML2):c.964G>C (p.Gly322Arg)	EML2 (G206R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335592	NM_012155.4(EML2):c.950G>A (p.Arg317Gln)	EML2 (R317Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275330	NM_012155.4(EML2):c.946C>T (p.Arg316Trp)	EML2 (R316W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275328	NM_012155.4(EML2):c.940C>T (p.Arg314Cys)	EML2 (R198C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299483	NM_012155.4(EML2):c.919A>G (p.Thr307Ala)	EML2 (T453A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591157	NM_012155.4(EML2):c.911G>A (p.Arg304Gln)	EML2 (R450Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457175	NM_012155.4(EML2):c.904G>A (p.Ala302Thr)	EML2 (A502T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509703	NM_012155.4(EML2):c.889G>A (p.Val297Met)	EML2 (V297M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088652	NM_012155.4(EML2):c.880G>C (p.Asp294His)	EML2 (D272H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323611	NM_012155.4(EML2):c.863C>T (p.Ala288Val)	EML2 (A266V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591288	NM_012155.4(EML2):c.856A>C (p.Thr286Pro)	EML2 (T286P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275331	NM_012155.4(EML2):c.793G>A (p.Asp265Asn)	EML2 (D466N +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289911	NM_012155.4(EML2):c.747T>G (p.His249Gln)	EML2 (H450Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526809	NM_012155.4(EML2):c.725G>A (p.Arg242Gln)	EML2 (R126Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270208	NM_012155.4(EML2):c.710G>A (p.Gly237Asp)	EML2 (G237D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088651	NM_012155.4(EML2):c.614A>G (p.Asn205Ser)	EML2 (N183S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253171	NM_012155.4(EML2):c.600T>A (p.Asp200Glu)	EML2 (D400E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275327	NM_012155.4(EML2):c.557T>G (p.Met186Arg)	EML2 (M333R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354119	NM_012155.4(EML2):c.466G>A (p.Gly156Arg)	EML2 (G303R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238851	NM_012155.4(EML2):c.433G>A (p.Val145Ile)	EML2 (V346I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287916	NM_012155.4(EML2):c.362C>T (p.Ala121Val)	EML2 (A268V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650120	NM_012155.4(EML2):c.336C>A (p.Ala112=)	EML2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3275335	NM_012155.4(EML2):c.310C>A (p.His104Asn)	EML2 (H250N +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088665	NM_012155.4(EML2):c.292C>G (p.Gln98Glu)	EML2 (Q298E +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3275329	NM_012155.4(EML2):c.277G>A (p.Val93Met)	EML2 (V240M +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088664	NM_012155.4(EML2):c.254C>T (p.Ala85Val)	EML2 (A85V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2507894	NM_012155.4(EML2):c.235G>A (p.Glu79Lys)	EML2 (E226K +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088663	NM_012155.4(EML2):c.199G>C (p.Asp67His)	EML2 (D267H +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3275326	NM_012155.4(EML2):c.190C>T (p.Arg64Cys)	EML2 (R265C +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088662	NM_012155.4(EML2):c.160C>G (p.Arg54Gly)	EML2, LOC121627880 (R201G +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088661	NM_012155.4(EML2):c.99G>A (p.Met33Ile)	EML2, LOC121627880 (M11I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088660	NM_012155.4(EML2):c.95T>G (p.Met32Arg)	EML2, LOC121627880 (M178R +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2256866	NM_001193268.3(EML2):c.508G>A (p.Gly170Arg)	EML2, EML2-AS1 +1 more (G116R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1526667	GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841)	APOC1, APOC2 +36 more	Copy number gain	not specified	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	OPA3, PPP1R37 +74 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 564588	GRCh37/hg19 19q13.32(chr19:45945375-46215558)x3	EML2, SNRPD2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic

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Items: 77