ClinVar for Gene (Select 3575) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068274	NM_002185.5(IL7R):c.860del (p.Cys287fs)	IL7R (C287fs)	Deletion (nonsense +2 more)	Immunodeficiency 104	GPathogenic
Select item 3065884	NM_002185.5(IL7R):c.137T>G (p.Leu46Trp)	IL7R (L46W)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 3023728	NM_002185.5(IL7R):c.877-15C>T	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3022371	NM_002185.5(IL7R):c.813C>T (p.Ile271=)	IL7R (S240L)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 3019114	NM_002185.5(IL7R):c.432T>C (p.Asn144=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 3018388	NM_002185.5(IL7R):c.717T>C (p.Asp239=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 3017482	NM_002185.5(IL7R):c.379+16T>A	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3016738	NM_002185.5(IL7R):c.301C>T (p.Leu101=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 3016398	NM_002185.5(IL7R):c.706+9T>C	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3015668	NM_002185.5(IL7R):c.800+17A>T	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3015369	NM_002185.5(IL7R):c.912G>C (p.Leu304=)	IL7R	Single nucleotide variant (3 prime UTR variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 3014749	NM_002185.5(IL7R):c.800+20A>C	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3014426	NM_002185.5(IL7R):c.876+12del	IL7R	Deletion (intron variant)	Immunodeficiency 104	GBenign
Select item 3012261	NM_002185.5(IL7R):c.877-17C>A	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3008658	NM_002185.5(IL7R):c.1308C>T (p.Pro436=)	IL7R	Single nucleotide variant (3 prime UTR variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 3006380	NM_002185.5(IL7R):c.379+304_379+322del	IL7R	Deletion (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3001410	NM_002185.5(IL7R):c.570C>G (p.Leu190=)	IL7R	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 3001200	NM_002185.5(IL7R):c.876+11T>C	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 3000174	NM_002185.5(IL7R):c.379+10T>C	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2995764	NM_002185.5(IL7R):c.1377G>A (p.Gln459=)	IL7R	Single nucleotide variant (3 prime UTR variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 2992710	NM_002185.5(IL7R):c.102A>G (p.Glu34=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2991100	NM_002185.5(IL7R):c.800+10T>A	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2985798	NM_002185.5(IL7R):c.379+14T>C	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2985592	NM_002185.5(IL7R):c.1248C>A (p.Pro416=)	IL7R	Single nucleotide variant (3 prime UTR variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 2982246	NM_002185.5(IL7R):c.752del (p.Phe251fs)	IL7R (F251fs)	Deletion (frameshift variant +1 more)	Immunodeficiency 104	GPathogenic
Select item 2977359	NM_002185.5(IL7R):c.379+12T>C	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2976180	NM_002185.5(IL7R):c.633C>T (p.His211=)	IL7R	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 2973146	NM_002185.5(IL7R):c.537+11C>G	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2972248	NM_002185.5(IL7R):c.466C>T (p.Gln156Ter)	IL7R (Q156*)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 104	GPathogenic
Select item 2968215	NM_002185.5(IL7R):c.83-6C>T	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2968121	NM_002185.5(IL7R):c.246C>T (p.Cys82=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2967394	NM_002185.5(IL7R):c.562C>T (p.Leu188=)	IL7R	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 2966025	NM_002185.5(IL7R):c.87C>T (p.Asp29=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2965652	NM_002185.5(IL7R):c.82+8A>G	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2965047	NM_002185.5(IL7R):c.51C>A (p.Val17=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2962423	NM_002185.5(IL7R):c.66T>C (p.Ser22=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2962315	NM_002185.5(IL7R):c.801-14T>C	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2962230	NM_002185.5(IL7R):c.807G>A (p.Lys269=)	IL7R (S238N)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 2960020	NM_002185.5(IL7R):c.364G>C (p.Asp122His)	IL7R (D122H)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 2955101	NM_002185.5(IL7R):c.402C>T (p.Asp134=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2916079	NM_002185.5(IL7R):c.1134C>T (p.Asp378=)	IL7R	Single nucleotide variant (3 prime UTR variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 2910978	NM_002185.5(IL7R):c.800+11T>C	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2908030	NM_002185.5(IL7R):c.243G>A (p.Lys81=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2906611	NM_002185.5(IL7R):c.877-15C>G	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2903929	NM_002185.5(IL7R):c.129T>C (p.Tyr43=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2903201	NM_002185.5(IL7R):c.363A>C (p.Ile121=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2902830	NM_002185.5(IL7R):c.1161C>T (p.Ser387=)	IL7R	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 2902308	NM_002185.5(IL7R):c.82+11T>C	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2880755	NM_002185.5(IL7R):c.318T>C (p.Asn106=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2877491	NM_002185.5(IL7R):c.380-14T>C	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2866924	NM_002185.5(IL7R):c.1281A>G (p.Thr427=)	IL7R	Single nucleotide variant (3 prime UTR variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 2864726	NM_002185.5(IL7R):c.221+9T>C	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2863273	NM_002185.5(IL7R):c.276T>C (p.Tyr92=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2860509	NM_002185.5(IL7R):c.1213C>T (p.Leu405=)	IL7R	Single nucleotide variant (3 prime UTR variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 2860105	NM_002185.5(IL7R):c.306T>C (p.Ile102=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2858592	NM_002185.5(IL7R):c.936T>C (p.Asp312=)	IL7R	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 2856908	NM_002185.5(IL7R):c.380-19A>G	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2855103	NM_002185.5(IL7R):c.1191G>C (p.Gly397=)	IL7R	Single nucleotide variant (3 prime UTR variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 2854977	NM_002185.5(IL7R):c.831C>A (p.Pro277=)	IL7R (P246Q)	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 2851626	NM_002185.5(IL7R):c.1245G>C (p.Leu415=)	IL7R	Single nucleotide variant (3 prime UTR variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 2850788	NM_002185.5(IL7R):c.1368C>T (p.Tyr456=)	IL7R	Single nucleotide variant (3 prime UTR variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 2849051	NM_002185.5(IL7R):c.83-20G>T	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2846262	NM_002185.5(IL7R):c.993A>G (p.Gln331=)	IL7R	Single nucleotide variant (3 prime UTR variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 2845848	NM_002185.5(IL7R):c.522T>C (p.Asp174=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2844863	NM_002185.5(IL7R):c.369A>C (p.Leu123=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2843842	NM_002185.5(IL7R):c.298T>C (p.Leu100=)	IL7R	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2842501	NM_002185.5(IL7R):c.222-5T>C	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2842461	NM_002185.5(IL7R):c.876+14G>T	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2839741	NM_002185.5(IL7R):c.538-13C>T	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2839361	NM_002185.5(IL7R):c.966T>C (p.Gly322=)	IL7R	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 2839271	NM_002185.5(IL7R):c.1176G>A (p.Glu392=)	IL7R	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 2836897	NM_002185.5(IL7R):c.538-17T>G	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2835228	NM_002185.5(IL7R):c.537+15T>G	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2832058	NM_002185.5(IL7R):c.552C>G (p.Ser184=)	IL7R	Single nucleotide variant (synonymous variant)	Immunodeficiency 104	GLikely benign
Select item 2828388	NM_002185.5(IL7R):c.416A>G (p.Tyr139Cys)	IL7R (Y139C)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 2828379	NM_002185.5(IL7R):c.1243C>T (p.Leu415=)	IL7R	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 2827352	NM_002185.5(IL7R):c.379+13A>G	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2826929	NM_002185.5(IL7R):c.82+14A>C	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2826755	NM_002185.5(IL7R):c.380-19A>C	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2824349	NM_002185.5(IL7R):c.99A>G (p.Ala33=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2817198	NM_002185.5(IL7R):c.1335A>G (p.Gln445=)	IL7R	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 2812436	NM_002185.5(IL7R):c.1107C>T (p.Cys369=)	IL7R	Single nucleotide variant (3 prime UTR variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 2812110	NM_002185.5(IL7R):c.1212C>T (p.Leu404=)	IL7R	Single nucleotide variant (3 prime UTR variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 2809294	NM_002185.5(IL7R):c.1372A>T (p.Asn458Tyr)	IL7R (N458Y)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 104	GUncertain significance
Select item 2809167	NM_002185.5(IL7R):c.141A>G (p.Glu47=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2809165	NM_002185.5(IL7R):c.1272A>G (p.Gly424=)	IL7R	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 2805186	NM_002185.5(IL7R):c.231C>T (p.Leu77=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2802748	NM_002185.5(IL7R):c.798A>G (p.Lys266=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2800416	NM_002185.5(IL7R):c.706+18A>G	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2797142	NM_002185.5(IL7R):c.1065_1066inv (p.Ile356Val)	IL7R (I356V)	Inversion (missense variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 2796795	NM_002185.5(IL7R):c.221+12_221+13del	IL7R	Deletion (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2795280	NM_002185.5(IL7R):c.214G>T (p.Glu72Ter)	IL7R (E72*)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 104	GPathogenic
Select item 2794558	NM_002185.5(IL7R):c.876+12dup	IL7R	Duplication (intron variant)	Immunodeficiency 104	GBenign
Select item 2793544	NM_002185.5(IL7R):c.780C>A (p.Ala260=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2789689	NM_002185.5(IL7R):c.538-2A>G	IL7R	Single nucleotide variant (splice acceptor variant)	Immunodeficiency 104	GPathogenic
Select item 2787189	NM_002185.5(IL7R):c.83-12G>C	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2786109	NM_002185.5(IL7R):c.222-6C>T	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2782346	NM_002185.5(IL7R):c.885T>C (p.Asn295=)	IL7R	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 104	GLikely benign
Select item 2780052	NM_002185.5(IL7R):c.623del (p.Ile208fs)	IL7R (I208fs)	Deletion (frameshift variant)	Immunodeficiency 104	GPathogenic
Select item 2776892	NM_002185.5(IL7R):c.537+18A>G	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign

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