"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "RAB4B-E - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 730653	NM_080732.4(EGLN2):c.78G>C (p.Glu26Asp)	EGLN2, RAB4B-EGLN2 (E26D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 733033	NM_080732.4(EGLN2):c.294G>A (p.Ala98=)	RAB4B-EGLN2, EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 783830	NM_080732.4(EGLN2):c.333C>T (p.Gly111=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 775411	NM_080732.4(EGLN2):c.1149C>T (p.Ala383=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 738122	NM_080732.4(EGLN2):c.1214C>T (p.Thr405Met)	EGLN2, RAB4B-EGLN2 (T405M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign

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