C1833275[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2440936	NM_000215.4(JAK3):c.2743C>T (p.Gln915Ter)	JAK3 (Q915*)	Single nucleotide variant (nonsense)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic/Likely pathogenic
Select item 328503	NM_000215.4(JAK3):c.2680+3G>C	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GConflicting classifications of pathogenicity
Select item 36416	NM_000215.4(JAK3):c.1767C>T (p.Gly589=)	JAK3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1323133	NM_000215.4(JAK3):c.1254+2T>A	JAK3	Single nucleotide variant (splice donor variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic
Select item 849417	NM_000215.4(JAK3):c.361C>T (p.Arg121Cys)	JAK3 (R121C)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 2432945	NM_000215.4(JAK3):c.184+5G>A	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance

ClinVar