ELL2[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	LOC110120974, LOC110120977 +277 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 59667	GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1	ARB2A, ARRDC3-AS1 +147 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 59443	GRCh38/hg38 5q15(chr5:93405010-97716265)x3	ARB2A, ARSK +120 more	Copy number gain	See cases	GUncertain significance
Select item 150147	GRCh38/hg38 5q15(chr5:94902711-95930059)x3	ARSK, ELL2 +42 more	Copy number gain	See cases	GLikely benign
Select item 2467497	NM_012081.6(ELL2):c.1752A>C (p.Lys584Asn)	ELL2 (K584N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275159	NM_012081.6(ELL2):c.1493A>G (p.Lys498Arg)	ELL2 (K498R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366038	NM_012081.6(ELL2):c.1467T>G (p.Asp489Glu)	ELL2 (D489E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364138	NM_012081.6(ELL2):c.1409A>C (p.Lys470Thr)	ELL2 (K470T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088319	NM_012081.6(ELL2):c.1378A>G (p.Lys460Glu)	ELL2 (K460E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088318	NM_012081.6(ELL2):c.1333C>A (p.Leu445Ile)	ELL2 (L445I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275161	NM_012081.6(ELL2):c.1255G>A (p.Asp419Asn)	ELL2 (D419N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622872	NM_012081.6(ELL2):c.1220C>T (p.Thr407Ile)	ELL2 (T407I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088317	NM_012081.6(ELL2):c.1213C>T (p.Arg405Trp)	ELL2 (R405W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275158	NM_012081.6(ELL2):c.1153A>G (p.Ile385Val)	ELL2 (I385V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392955	NM_012081.6(ELL2):c.1114A>C (p.Ile372Leu)	ELL2 (I372L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275160	NM_012081.6(ELL2):c.958C>T (p.Arg320Trp)	ELL2 (R320W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237801	NM_012081.6(ELL2):c.904C>T (p.Arg302Cys)	ELL2 (R302C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352793	NM_012081.6(ELL2):c.878C>T (p.Pro293Leu)	ELL2 (P293L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602254	NM_012081.6(ELL2):c.704A>C (p.Gln235Pro)	ELL2 (Q235P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206461	NM_012081.6(ELL2):c.500G>C (p.Arg167Pro)	ELL2 (R167P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088321	NM_012081.6(ELL2):c.457A>T (p.Ile153Phe)	ELL2 (I153F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088320	NM_012081.6(ELL2):c.404G>A (p.Arg135Gln)	ELL2 (R135Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1257675	NM_012081.6(ELL2):c.317+2020G>C	ELL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2279978	NM_012081.6(ELL2):c.316A>T (p.Ser106Cys)	ELL2 (S106C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253806	NM_012081.6(ELL2):c.227A>G (p.Asn76Ser)	ELL2 (N76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1277603	NM_012081.6(ELL2):c.196-4613G>A	ELL2, LOC129994245	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289561	NM_012081.6(ELL2):c.196-10307C>T	ELL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773461	NM_012081.6(ELL2):c.172A>G (p.Ile58Val)	ELL2 (I58V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2536623	NM_012081.6(ELL2):c.98A>G (p.Lys33Arg)	CAST, ELL2 +1 more (K33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275162	NM_012081.6(ELL2):c.49C>A (p.Leu17Met)	CAST, ELL2 +1 more (L17M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148929	GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3	ADGRV1, ARB2A +34 more	Copy number gain	See cases	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2685164	GRCh37/hg19 5q15(chr5:95019029-95937906)x1	ELL2, GLRX +2 more	Copy number loss	not provided	GUncertain significance
Select item 2425958	NC_000005.9:g.(?_94800311)_(96107383_?)del	ARSK, CAST +9 more	Deletion	not provided	GPathogenic
Select item 1527180	GRCh37/hg19 5q15(chr5:95240864-95630972)	ELL2	Copy number loss	not specified	GUncertain significance
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 814713	GRCh37/hg19 5q15(chr5:94715085-95251238)x3	SPATA9, ARSK +7 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563093	GRCh37/hg19 5q15(chr5:94881523-95294150)x3	SPATA9, GLRX +6 more	Copy number gain	not provided	GUncertain significance
Select item 563091	GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1	ARB2A, ARSK +31 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 443331	GRCh37/hg19 5q15-21.2(chr5:95049966-103537589)x1	CAST, CHD1 +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 443035	GRCh37/hg19 5q15(chr5:95028385-95581195)x3	ELL2, GLRX +1 more	Copy number gain	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign

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Items: 57