"Baylor 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 1028621	NM_000215.4(JAK3):c.2652C>T (p.Val884=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely pathogenic
Select item 889683	NM_000215.4(JAK3):c.2490+4A>C	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 1028620	NM_000215.4(JAK3):c.1108G>A (p.Glu370Lys)	JAK3 (E370K)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency +1 more	GUncertain significance OUncertain significance
Select item 1029718	NM_000215.4(JAK3):c.971A>T (p.Asp324Val)	JAK3 (D324V)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 1032930	NM_000215.4(JAK3):c.932C>T (p.Pro311Leu)	JAK3 (P311L)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency +1 more	GUncertain significance
Select item 191101	NM_000215.4(JAK3):c.913C>T (p.Gln305Ter)	JAK3 (Q305*)	Single nucleotide variant (nonsense)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic
Select item 134575	NM_000215.4(JAK3):c.23C>T (p.Thr8Met)	JAK3 (T8M)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance