C0023501[trait identifier] AND "Database of Curated Mutations (DoCM)"[ - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 376113	NM_000215.4(JAK3):c.1970G>A (p.Arg657Gln)	JAK3 (R657Q)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 376114	NM_000215.4(JAK3):c.1503G>T (p.Gln501His)	JAK3 (Q501H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 376116	NM_000215.4(JAK3):c.260T>C (p.Ile87Thr)	JAK3 (I87T)	Single nucleotide variant (missense variant)	Leukemoid reaction +1 more	GLikely pathogenic

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