EDN2[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 154142	GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1	C1orf50, CCDC30 +142 more	Copy number loss	See cases	GPathogenic
Select item 2544112	NM_001956.5(EDN2):c.520A>G (p.Arg174Gly)	EDN2 (R141G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274510	NM_001956.5(EDN2):c.506G>A (p.Arg169Gln)	EDN2 (R136Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087200	NM_001956.5(EDN2):c.501G>T (p.Glu167Asp)	EDN2 (E167D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087199	NM_001956.5(EDN2):c.496C>T (p.Arg166Trp)	EDN2 (R166W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529792	NM_001956.5(EDN2):c.422G>A (p.Gly141Glu)	EDN2 (G141E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2514050	NM_001956.5(EDN2):c.355G>C (p.Gly119Arg)	EDN2 (G119R)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 716660	NM_001956.5(EDN2):c.345-4G>A	EDN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3087197	NM_001956.5(EDN2):c.313G>A (p.Ala105Thr)	EDN2 (A105T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609856	NM_001956.5(EDN2):c.292T>C (p.Cys98Arg)	EDN2 (C98R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472166	NM_001956.5(EDN2):c.116C>T (p.Ala39Val)	EDN2 (A39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589486	NM_001956.5(EDN2):c.49G>A (p.Val17Met)	EDN2 (V17M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024571	GRCh37/hg19 1p34.2(chr1:40688246-42630383)x1	CITED4, GUCA2A +20 more	Copy number loss	not provided	GUncertain significance
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 254027	GRCh37/hg19 1p34.2(chr1:40944820-42213560)x1	ZFP69, EDN2 +12 more	Copy number loss	See cases	GUncertain significance
Select item 242842	GRCh37/hg19 1p34.2(chr1:41343608-43121507)x1	RIMKLA, FOXO6 +11 more	Copy number loss	See cases	GLikely pathogenic

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Items: 25