ClinVar for MedGen (Select 354935) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 633

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065154	NM_000022.4(ADA):c.674A>T (p.Lys225Ile)	ADA (K225I +1 more)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 3022916	NM_000022.4(ADA):c.95+11A>G	ADA, LOC107303343	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 3022892	NM_000022.4(ADA):c.34-12G>A	ADA, LOC107303343	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 3017732	NM_000022.4(ADA):c.408C>A (p.Gly136=)	ADA	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 3014384	NM_000022.4(ADA):c.331A>G (p.Lys111Glu)	ADA (K111E)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 3010270	NM_000022.4(ADA):c.34-20T>C	ADA, LOC107303343	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 3008497	NM_000022.4(ADA):c.447del (p.Ser150fs)	ADA (S150fs)	Deletion (frameshift variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 3008297	NM_000022.4(ADA):c.780+18T>C	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 3006543	NM_000022.4(ADA):c.837A>G (p.Ala279=)	ADA	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 3003584	NM_000022.4(ADA):c.753G>A (p.Arg251=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2999237	NM_000022.4(ADA):c.954T>C (p.Thr318=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2996296	NM_000022.4(ADA):c.1011A>G (p.Glu337=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2994976	NM_000022.4(ADA):c.780+16A>G	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2994222	NM_000022.4(ADA):c.424C>A (p.Arg142=)	ADA	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2985959	NM_000022.4(ADA):c.214A>G (p.Ile72Val)	ADA, LOC107303343 (I72V)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 2984289	NM_000022.4(ADA):c.218+15A>G	ADA, LOC107303343	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2979312	NM_000022.4(ADA):c.219-9C>T	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2977014	NM_000022.4(ADA):c.741C>T (p.Ala247=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2976827	NM_000022.4(ADA):c.861G>A (p.Gln287=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2976394	NM_000022.4(ADA):c.1078+14T>A	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2973054	NM_000022.4(ADA):c.95+17G>A	ADA, LOC107303343	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2963771	NM_000022.4(ADA):c.607-11C>T	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2962211	NM_000022.4(ADA):c.34-29CT[3]	ADA, LOC107303343	Microsatellite (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2957154	NM_000022.4(ADA):c.912G>A (p.Leu304=)	ADA	Single nucleotide variant (non-coding transcript variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2919677	NM_000022.4(ADA):c.210T>C (p.Pro70=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2919659	NM_000022.4(ADA):c.1079-16C>T	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2919280	NM_000022.4(ADA):c.218+20C>T	ADA, LOC107303343	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2918402	NM_000022.4(ADA):c.781-17C>T	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2916852	NM_000022.4(ADA):c.478+20T>G	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2916499	NM_000022.4(ADA):c.362+13C>T	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2916373	NM_000022.4(ADA):c.479-19G>A	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2916116	NM_000022.4(ADA):c.976-19G>C	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2913225	NM_000022.4(ADA):c.478+16G>A	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2912297	NM_000022.4(ADA):c.976-17C>T	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2912258	NM_000022.4(ADA):c.678+17G>A	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2911840	NM_000022.4(ADA):c.218+11C>T	ADA, LOC107303343	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2911811	NM_000022.4(ADA):c.219-16T>G	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2910465	NM_000022.4(ADA):c.975+2T>C	ADA	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2910464	NM_000022.4(ADA):c.1018_1019del (p.Lys340fs)	ADA (K340fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2910433	NM_000022.4(ADA):c.33+12C>G	ADA, LOC107303343	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2909432	NM_000022.4(ADA):c.95+13A>G	ADA, LOC107303343	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2908247	NM_000022.4(ADA):c.96-20A>C	ADA, LOC107303343	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2905934	NM_000022.4(ADA):c.636T>C (p.Thr212=)	ADA	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2904407	NM_000022.4(ADA):c.33+10C>G	ADA, LOC107303343	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2903517	NM_000022.4(ADA):c.96-17_96-14del	ADA, LOC107303343	Microsatellite (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2899459	NM_000022.4(ADA):c.225C>T (p.Cys75=)	ADA	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2894801	NM_000022.4(ADA):c.368A>C (p.Asp123Ala)	ADA (D123A)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 2893240	NM_000022.4(ADA):c.678+20A>G	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2890528	NM_000022.4(ADA):c.363-11T>C	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2890392	NM_000022.4(ADA):c.976-14del	ADA	Deletion (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2885947	NM_000022.4(ADA):c.34-10C>T	ADA, LOC107303343	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2884555	NM_000022.4(ADA):c.845+17T>G	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2883859	NM_000022.4(ADA):c.976-9C>G	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2882538	NM_000022.4(ADA):c.845+13C>T	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2878562	NM_000022.4(ADA):c.893T>G (p.Leu298Arg)	ADA (L274R +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 2872660	NM_000022.4(ADA):c.411G>T (p.Leu137=)	ADA	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2871296	NM_000022.4(ADA):c.33+13G>A	ADA, LOC107303343	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2863640	NM_000022.4(ADA):c.95+17G>C	ADA, LOC107303343	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2859758	NM_000022.4(ADA):c.1079-20T>C	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2853624	NM_000022.4(ADA):c.894C>T (p.Leu298=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2853107	NM_000022.4(ADA):c.1079-12A>G	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2851615	NM_000022.4(ADA):c.372C>T (p.Leu124=)	ADA	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2851519	NM_000022.4(ADA):c.654G>T (p.Val218=)	ADA	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2849097	NM_000022.4(ADA):c.357G>A (p.Gln119=)	ADA (R23K)	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2848936	NM_000022.4(ADA):c.279G>A (p.Glu93=)	ADA	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2842213	NM_000022.4(ADA):c.846-17T>G	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2841450	NM_000022.4(ADA):c.96-10T>C	ADA, LOC107303343	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2837369	NM_000022.4(ADA):c.845+17T>A	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2837012	NM_000022.4(ADA):c.976-15T>C	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2833564	NM_000022.4(ADA):c.831G>A (p.Glu277=)	ADA	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2830306	NM_000022.4(ADA):c.845+20G>A	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2826975	NM_000022.4(ADA):c.607-12dup	ADA	Duplication (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2824723	NM_000022.4(ADA):c.679-7T>C	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2821526	NM_000022.4(ADA):c.781-18A>C	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2820839	NM_000022.4(ADA):c.846-9C>T	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2816758	NM_000022.4(ADA):c.780+8G>T	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2811702	NM_000022.4(ADA):c.517del (p.Gln173fs)	ADA (Q173fs +1 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2810806	NM_000022.4(ADA):c.1026G>A (p.Glu342=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2810238	NM_000022.4(ADA):c.975+15G>C	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2803664	NM_000022.4(ADA):c.975+18A>T	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2803663	NM_000022.4(ADA):c.975+19_975+20insG	ADA	Insertion (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2796562	NM_000022.4(ADA):c.478+18C>T	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2791163	NM_000022.4(ADA):c.218+17C>T	ADA, LOC107303343	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2789396	NM_000022.4(ADA):c.184C>T (p.Leu62=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2788213	NM_000022.4(ADA):c.315C>T (p.His105=)	ADA (T9I)	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2785571	NM_000022.4(ADA):c.703C>A (p.Arg235=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2781558	NM_000022.4(ADA):c.1079-14G>A	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2780445	NM_000022.4(ADA):c.975+2T>G	ADA	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2775817	NM_000022.4(ADA):c.479-20G>A	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2771967	NM_000022.4(ADA):c.561C>A (p.Thr187=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2768279	NM_000022.4(ADA):c.49del (p.His17fs)	ADA, LOC107303343 (H17fs)	Deletion (frameshift variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2767279	NM_000022.4(ADA):c.859_877dup (p.Asn293delinsThrGlyTer)	ADA	Duplication (nonsense +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2764075	NM_000022.4(ADA):c.723C>T (p.His241=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2763451	NM_000022.4(ADA):c.1058T>A (p.Met353Lys)	ADA (M329K +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GUncertain significance
Select item 2760965	NM_000022.4(ADA):c.679-17A>T	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2754225	NM_000022.4(ADA):c.12G>T (p.Thr4=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2752236	NM_000022.4(ADA):c.1023G>A (p.Arg341=)	ADA	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2750759	NM_000022.4(ADA):c.479-23_479-2delinsTGGGACCAGCAT	ADA	Indel (splice acceptor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 2749346	NM_000022.4(ADA):c.479-14C>A	ADA	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign
Select item 2748818	NM_000022.4(ADA):c.15C>A (p.Pro5=)	ADA, LOC107303343	Single nucleotide variant (synonymous variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely benign

<< First< Prev

Page of 7