"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2688445	NM_018248.3(NEIL3):c.45C>A (p.Arg15=)	LOC129993410, NEIL3	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2688466	NM_018248.3(NEIL3):c.350C>G (p.Pro117Arg)	NEIL3 (P117R)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2688512	NM_018248.3(NEIL3):c.413+10dup	NEIL3	Duplication (intron variant)	not specified	GBenign
Select item 2688367	NM_018248.3(NEIL3):c.627+41G>A	NEIL3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688480	NM_018248.3(NEIL3):c.628-65C>T	NEIL3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688484	NM_018248.3(NEIL3):c.756T>C (p.Pro252=)	NEIL3	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2688485	NM_018248.3(NEIL3):c.869+15T>C	NEIL3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688408	NM_018248.3(NEIL3):c.1039+45G>A	NEIL3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688525	NM_018248.3(NEIL3):c.1143A>G (p.Arg381=)	NEIL3	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2688527	NM_018248.3(NEIL3):c.1272T>G (p.Val424=)	NEIL3	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2688528	NM_018248.3(NEIL3):c.1328C>T (p.Pro443Leu)	NEIL3 (P443L)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2688479	NM_018248.3(NEIL3):c.1413A>C (p.Gln471His)	NEIL3 (Q471H)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2688524	NM_018248.3(NEIL3):c.1558G>A (p.Gly520Arg)	NEIL3 (G520R)	Single nucleotide variant (missense variant)	not specified	GBenign