"Fulgent Genetics, Fulgent Genetics"[submitter] AND "IL7R"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36390	NM_002185.5(IL7R):c.214G>C (p.Glu72Gln)	IL7R (E72Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 265195	NM_002185.5(IL7R):c.221+2T>G	IL7R	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 224841	NM_002185.5(IL7R):c.361dup (p.Ile121fs)	IL7R (I121fs)	Duplication (non-coding transcript variant +1 more)	Immunodeficiency 104	GPathogenic FDA Recognized database
Select item 1445947	NM_002185.5(IL7R):c.508C>T (p.Arg170Cys)	IL7R (R170C)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 134530	NM_002185.5(IL7R):c.731C>T (p.Thr244Ile)	IL7R (T244I)	Single nucleotide variant (missense variant)	Immunodeficiency 104	GBenign FDA Recognized database
Select item 134534	NM_002185.5(IL7R):c.1231A>G (p.Thr411Ala)	IL7R (T411A)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GLikely benign FDA Recognized database
Select item 134540	NM_002185.5(IL7R):c.1357T>C (p.Ser453Pro)	IL7R (S453P)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance

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