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

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 328495	NM_000215.4(JAK3):c.*123T>C	JAK3	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 1290849	NM_000215.4(JAK3):c.3208-39G>A	JAK3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1277864	NM_000215.4(JAK3):c.3207+101C>G	JAK3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1283176	NM_000215.4(JAK3):c.3207+75C>T	JAK3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1225967	NM_000215.4(JAK3):c.3097-116T>G	JAK3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 36421	NM_000215.4(JAK3):c.3096+18A>G	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency +3 more	GBenign
Select item 1241957	NM_000215.4(JAK3):c.2978+32T>C	JAK3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1258955	NM_000215.4(JAK3):c.2805+113A>G	JAK3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 632862	NM_000215.4(JAK3):c.1915-30C>T	JAK3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1221017	NM_000215.4(JAK3):c.1143-28C>T	JAK3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 137601	NM_000215.4(JAK3):c.1142+13C>A	JAK3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1264995	NM_000215.4(JAK3):c.862-38A>C	JAK3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1272699	NM_000215.4(JAK3):c.184+96C>T	JAK3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1291547	NM_000215.4(JAK3):c.184+42G>A	JAK3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1291546	NM_000215.4(JAK3):c.184+40G>A	JAK3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1183811	NM_000215.4(JAK3):c.184+22C>T	JAK3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 328525	NM_000215.4(JAK3):c.-36A>G	JAK3	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign