"GeneDx"[submitter] AND "EGLN2"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1260928	NM_080732.4(EGLN2):c.-235+85dup	EGLN2, RAB4B-EGLN2	Duplication (intron variant)	not provided	GBenign
Select item 1253009	NM_080732.4(EGLN2):c.-235+84G>A	EGLN2, RAB4B-EGLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283406	NM_080732.4(EGLN2):c.-235+140G>T	EGLN2, RAB4B-EGLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228041	NM_080732.4(EGLN2):c.-234-504A>G	EGLN2, RAB4B-EGLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228205	NM_080732.4(EGLN2):c.-234-447_-234-444del	EGLN2, RAB4B-EGLN2	Deletion (intron variant)	not provided	GBenign
Select item 1252635	NM_080732.4(EGLN2):c.-234-415_-234-414del	EGLN2, RAB4B-EGLN2	Microsatellite (intron variant)	not provided	GBenign
Select item 1291782	NM_080732.4(EGLN2):c.-234-175C>T	EGLN2, RAB4B-EGLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297762	NM_080732.4(EGLN2):c.-234-12del	EGLN2, RAB4B-EGLN2	Deletion (intron variant)	not provided	GBenign
Select item 1182618	NM_080732.4(EGLN2):c.-234-10C>T	EGLN2, RAB4B-EGLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283246	NM_080732.4(EGLN2):c.-116G>A	RAB4B-EGLN2, EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1273186	NM_080732.4(EGLN2):c.693G>A (p.Pro231=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1260751	NM_080732.4(EGLN2):c.844-199G>A	EGLN2, RAB4B-EGLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277880	NM_080732.4(EGLN2):c.844-141G>A	EGLN2, RAB4B-EGLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297983	NM_080732.4(EGLN2):c.963+33G>C	EGLN2, RAB4B-EGLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222644	NM_080732.4(EGLN2):c.1100+23C>A	EGLN2, RAB4B-EGLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic