"Fulgent Genetics, Fulgent Genetics"[submitter] AND "JAK3"[gene] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 664577	NM_000215.4(JAK3):c.2518C>T (p.Arg840Cys)	JAK3 (R840C)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency +2 more	GUncertain significance
Select item 1063395	NM_000215.4(JAK3):c.2350+6C>T	JAK3	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 134573	NM_000215.4(JAK3):c.2164G>A (p.Val722Ile)	JAK3 (V722I)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GBenign FDA Recognized database
Select item 803542	NM_000215.4(JAK3):c.1645C>T (p.Arg549Ter)	JAK3 (R549*)	Single nucleotide variant (nonsense)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic
Select item 385188	NM_000215.4(JAK3):c.1131C>T (p.His377=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency +1 more	GBenign/Likely benign
Select item 134580	NM_000215.4(JAK3):c.394C>A (p.Pro132Thr)	JAK3 (P132T)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GBenign FDA Recognized database
Select item 532747	NM_000215.4(JAK3):c.362G>A (p.Arg121His)	JAK3 (R121H)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign FDA Recognized database