"Ambry Genetics"[submitter] AND "IL7R"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2613746	NM_002185.5(IL7R):c.20C>T (p.Thr7Ile)	IL7R (T7I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 951752	NM_002185.5(IL7R):c.59G>A (p.Gly20Glu)	IL7R (G20E)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104 +1 more	GUncertain significance
Select item 3109466	NM_002185.5(IL7R):c.103C>A (p.Leu35Met)	IL7R (L35M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404318	NM_002185.5(IL7R):c.156G>T (p.Gln52His)	IL7R (Q52H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404319	NM_002185.5(IL7R):c.157C>T (p.His53Tyr)	IL7R (H53Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 647548	NM_002185.5(IL7R):c.340A>G (p.Lys114Glu)	IL7R (K114E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 353263	NM_002185.5(IL7R):c.376A>C (p.Ile126Leu)	IL7R (I126L)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104 +1 more	GUncertain significance
Select item 570206	NM_002185.5(IL7R):c.433G>A (p.Asp145Asn)	IL7R (D145N)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104 +1 more	GUncertain significance
Select item 2492503	NM_002185.5(IL7R):c.446C>T (p.Thr149Ile)	IL7R (T149I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3285909	NM_002185.5(IL7R):c.488T>C (p.Leu163Ser)	IL7R (L163S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 573790	NM_002185.5(IL7R):c.600G>A (p.Met200Ile)	IL7R (M200I)	Single nucleotide variant (missense variant)	Immunodeficiency 104 +1 more	GUncertain significance
Select item 2561392	NM_002185.5(IL7R):c.620C>G (p.Ser207Cys)	IL7R (S207C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 636507	NM_002185.5(IL7R):c.1003T>C (p.Ser335Pro)	IL7R (S335P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 972480	NM_002185.5(IL7R):c.1022G>A (p.Gly341Glu)	IL7R (G341E)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104 +1 more	GUncertain significance
Select item 1011677	NM_002185.5(IL7R):c.1063G>A (p.Val355Ile)	IL7R (V355I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1507255	NM_002185.5(IL7R):c.1106G>A (p.Cys369Tyr)	IL7R (C369Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2061224	NM_002185.5(IL7R):c.1252C>G (p.Pro418Ala)	IL7R (P418A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2142235	NM_002185.5(IL7R):c.1256T>C (p.Phe419Ser)	IL7R (F419S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance