"ITMI"[submitter] AND "IL7R"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134524	NM_002185.5(IL7R):c.149G>T (p.Gly50Val)	IL7R (G50V)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 134523	NM_002185.5(IL7R):c.152C>T (p.Ser51Leu)	IL7R (S51L)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GLikely benign FDA Recognized database
Select item 14839	NM_002185.5(IL7R):c.197T>C (p.Ile66Thr)	IL7R (I66T)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GBenign FDA Recognized database
Select item 14840	NM_002185.5(IL7R):c.412G>A (p.Val138Ile)	IL7R (V138I)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GBenign FDA Recognized database
Select item 134526	NM_002185.5(IL7R):c.438T>A (p.Phe146Leu)	IL7R (F146L)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 134525	NM_002185.5(IL7R):c.460C>T (p.His154Tyr)	IL7R (H154Y)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 134527	NM_002185.5(IL7R):c.590C>T (p.Pro197Leu)	IL7R (P197L)	Single nucleotide variant (missense variant)	Immunodeficiency 104	GUncertain significance
Select item 134528	NM_002185.5(IL7R):c.662G>T (p.Ser221Ile)	IL7R (S221I)	Single nucleotide variant (missense variant)	Immunodeficiency 104	GPathogenic FDA Recognized database
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 134531	NM_002185.5(IL7R):c.760G>A (p.Ala254Thr)	IL7R (A254T)	Single nucleotide variant (missense variant)	Immunodeficiency 104	GConflicting classifications of pathogenicity
Select item 134529	NM_002185.5(IL7R):c.772A>G (p.Ile258Val)	IL7R (I258V)	Single nucleotide variant (missense variant)	IL7R-related disorder	GUncertain significance
Select item 134537	NM_002185.5(IL7R):c.952G>A (p.Asp318Asn)	IL7R (D318N)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 134532	NM_002185.5(IL7R):c.1043A>C (p.Asn348Thr)	IL7R (N348T)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GBenign FDA Recognized database
Select item 134533	NM_002185.5(IL7R):c.1066A>G (p.Ile356Val)	IL7R (I356V)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GBenign FDA Recognized database
Select item 134538	NM_002185.5(IL7R):c.1092T>G (p.Asp364Glu)	IL7R (D364E)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GBenign FDA Recognized database
Select item 134539	NM_002185.5(IL7R):c.1096T>C (p.Ser366Pro)	IL7R (S366P)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104 +1 more	GConflicting classifications of pathogenicity
Select item 134535	NM_002185.5(IL7R):c.1099C>T (p.Leu367Phe)	IL7R (L367F)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
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 134536	NM_002185.5(IL7R):c.1241C>T (p.Thr414Met)	IL7R (T414M)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GBenign 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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Items: 20