"GeneDx"[submitter] AND "EDNRA"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 146056	GRCh38/hg38 4q31.22-31.23(chr4:147396786-147788662)x3	ARHGAP10, EDNRA +17 more	Copy number gain	See cases	GUncertain significance
Select item 1237630	NM_001957.4(EDNRA):c.-70-231T>C	EDNRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226469	NM_001957.4(EDNRA):c.420+26G>A	EDNRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225984	NM_001957.4(EDNRA):c.548+9G>A	EDNRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3343351	NM_001957.4(EDNRA):c.730A>G (p.Thr244Ala)	EDNRA (T244A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1244390	NM_001957.4(EDNRA):c.748-11dup	EDNRA	Duplication (intron variant)	not provided	GBenign
Select item 1247926	NM_001957.4(EDNRA):c.748-11del	EDNRA	Deletion (intron variant)	not provided	GBenign
Select item 1256683	NM_001957.4(EDNRA):c.748-19_748-18insCT	EDNRA	Insertion (intron variant)	not provided +2 more	GBenign
Select item 1294714	NM_001957.4(EDNRA):c.900+145T>G	EDNRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174366	NM_001957.4(EDNRA):c.900+178G>A	EDNRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266192	NM_001957.4(EDNRA):c.901-195T>C	EDNRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230980	NM_001957.4(EDNRA):c.901-179C>G	EDNRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269686	NM_001957.4(EDNRA):c.901-138G>A	EDNRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244028	NM_001957.4(EDNRA):c.969T>C (p.His323=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	Mandibulofacial dysostosis with alopecia +1 more	GBenign
Select item 1255371	NM_001957.4(EDNRA):c.1005G>A (p.Glu335=)	EDNRA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1235906	NM_001957.4(EDNRA):c.1034+52T>C	EDNRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233007	NM_001957.4(EDNRA):c.1035-151G>A	EDNRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2573691	NM_001957.4(EDNRA):c.1072G>A (p.Ala358Thr)	EDNRA (A249T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1175503	NM_001957.4(EDNRA):c.1143+54A>C	EDNRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297294	NM_001957.4(EDNRA):c.*70G>C	EDNRA	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic

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Items: 23