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

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Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628298	NM_002227.4(JAK1):c.3259-49T>C	JAK1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688493	NM_002227.4(JAK1):c.3258+112G>T	JAK1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628299	NM_002227.4(JAK1):c.2843-198T>G	JAK1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628309	NM_002227.4(JAK1):c.2650-44C>T	JAK1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628129	NM_002227.4(JAK1):c.2404-125C>T	JAK1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1169782	NM_002227.4(JAK1):c.2199A>G (p.Pro733=)	JAK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2688395	NM_002227.4(JAK1):c.2115+80C>G	JAK1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688396	NM_002227.4(JAK1):c.2115+79G>A	JAK1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1166648	NM_002227.4(JAK1):c.2097C>G (p.Ala699=)	JAK1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1169783	NM_002227.4(JAK1):c.2049C>T (p.Ser683=)	JAK1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2628196	NM_002227.4(JAK1):c.1649-82C>T	JAK1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1166649	NM_002227.4(JAK1):c.1590C>T (p.Ile530=)	JAK1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1169785	NM_002227.4(JAK1):c.1459-7C>T	JAK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2628286	NM_002227.4(JAK1):c.1459-38C>T	JAK1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628132	NM_002227.4(JAK1):c.1177-25G>A	JAK1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628145	NM_002227.4(JAK1):c.991-27C>T	JAK1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1166650	NM_002227.4(JAK1):c.546A>G (p.Gly182=)	JAK1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2688297	NM_002227.4(JAK1):c.6+46A>G	JAK1	Single nucleotide variant (intron variant)	not specified	GBenign