ClinVar for Gene (Select 5897) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3240271	NM_000536.4(RAG2):c.41T>A (p.Leu14Ter)	RAG2 (L14*)	Single nucleotide variant (nonsense)	Combined immunodeficiency with skin granulomas	GLikely pathogenic
Select item 3240270	NM_000536.4(RAG2):c.683del (p.Ile228fs)	RAG2 (I228fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas	GLikely pathogenic
Select item 3240269	NM_000536.4(RAG2):c.951del (p.Trp317fs)	RAG2 (W317fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas	GLikely pathogenic
Select item 3240268	NM_000536.4(RAG2):c.43del (p.Ile15fs)	RAG2 (I15fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas	GLikely pathogenic
Select item 3240267	NM_000536.4(RAG2):c.924_930dup (p.Ile311fs)	RAG2 (I311fs)	Duplication (frameshift variant)	Combined immunodeficiency with skin granulomas	GLikely pathogenic
Select item 3240266	NM_000536.4(RAG2):c.831T>A (p.Tyr277Ter)	RAG2 (Y277*)	Single nucleotide variant (nonsense)	Combined immunodeficiency with skin granulomas	GLikely pathogenic
Select item 3240265	NM_000536.4(RAG2):c.535dup (p.Leu179fs)	RAG2 (L179fs)	Duplication (frameshift variant)	Combined immunodeficiency with skin granulomas	GLikely pathogenic
Select item 3151194	NM_000536.4(RAG2):c.926C>T (p.Pro309Leu)	RAG2 (P309L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151193	NM_000536.4(RAG2):c.569G>T (p.Gly190Val)	RAG2 (G190V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151192	NM_000536.4(RAG2):c.562G>A (p.Glu188Lys)	RAG2 (E188K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151191	NM_000536.4(RAG2):c.1234G>C (p.Glu412Gln)	RAG2 (E412Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2953310	NM_000536.4(RAG2):c.442C>A (p.Arg148=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2952987	NM_000536.4(RAG2):c.207C>T (p.Leu69=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2952413	NM_000536.4(RAG2):c.1104_1321del (p.Thr369fs)	RAG2 (T369fs)	Deletion (frameshift variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GPathogenic
Select item 2952277	NM_000536.4(RAG2):c.1329G>C (p.Met443Ile)	RAG2 (M443I)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GPathogenic
Select item 2952120	NM_000536.4(RAG2):c.24C>G (p.Val8=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2952103	NM_000536.4(RAG2):c.228C>T (p.Ala76=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2951678	NM_000536.4(RAG2):c.72T>C (p.Phe24=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2951432	NM_000536.4(RAG2):c.84T>A (p.Val28=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2951431	NM_000536.4(RAG2):c.753C>T (p.Val251=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2950695	NM_000536.4(RAG2):c.361_364del (p.Thr121fs)	RAG2 (T121fs)	Deletion (frameshift variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GPathogenic
Select item 2950412	NM_000536.4(RAG2):c.951G>T (p.Trp317Cys)	RAG2 (W317C)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GPathogenic
Select item 2950373	NM_000536.4(RAG2):c.718C>G (p.Leu240Val)	RAG2 (L240V)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 2950169	NM_000536.4(RAG2):c.272_278del (p.Tyr91fs)	RAG2 (Y91fs)	Deletion (frameshift variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GPathogenic
Select item 2950054	NM_000536.4(RAG2):c.714T>C (p.Val238=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2949692	NM_000536.4(RAG2):c.786C>A (p.Ile262=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2949195	NM_000536.4(RAG2):c.1062T>C (p.Asp354=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2949192	NM_000536.4(RAG2):c.9G>C (p.Leu3=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2948744	NM_000536.4(RAG2):c.1005T>C (p.Asn335=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2948709	NM_000536.4(RAG2):c.870C>T (p.Ile290=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2948396	NM_000536.4(RAG2):c.84T>C (p.Val28=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2947005	NM_000536.4(RAG2):c.984del (p.Gly330fs)	RAG2 (G330fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic
Select item 2946898	NM_000536.4(RAG2):c.114A>G (p.Lys38=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2944957	NM_000536.4(RAG2):c.409A>C (p.Arg137=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2944946	NM_000536.4(RAG2):c.1545T>G (p.Thr515=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2944539	NM_000536.4(RAG2):c.138C>T (p.Phe46=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2944449	NM_000536.4(RAG2):c.747C>T (p.Cys249=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2944392	NM_000536.4(RAG2):c.936G>A (p.Lys312=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2944277	NM_000536.4(RAG2):c.924C>G (p.Thr308=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2944276	NM_000536.4(RAG2):c.726G>A (p.Leu242=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2943799	NM_000536.4(RAG2):c.1449G>A (p.Glu483=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2943670	NM_000536.4(RAG2):c.852A>G (p.Arg284=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2943516	NM_000536.4(RAG2):c.1405C>T (p.Leu469=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2942353	NM_000536.4(RAG2):c.321T>C (p.Ile107=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2941686	NM_000536.4(RAG2):c.356A>T (p.Lys119Met)	RAG2 (K119M)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 2941614	NM_000536.4(RAG2):c.948A>C (p.Ile316=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2941404	NM_000536.4(RAG2):c.1149A>G (p.Glu383=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2941097	NM_000536.4(RAG2):c.243A>G (p.Lys81=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2941078	NM_000536.4(RAG2):c.126C>T (p.Pro42=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2940944	NM_000536.4(RAG2):c.519T>C (p.Asn173=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2940816	NM_000536.4(RAG2):c.1384G>A (p.Ala462Thr)	RAG2 (A462T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 2939601	NM_000536.4(RAG2):c.1131del (p.Phe378fs)	RAG2 (F378fs)	Deletion (frameshift variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GPathogenic
Select item 2939290	NM_000536.4(RAG2):c.1236G>A (p.Glu412=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2939175	NM_000536.4(RAG2):c.102del (p.Gly35fs)	RAG2 (G35fs)	Deletion (frameshift variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GPathogenic
Select item 2938353	NM_000536.4(RAG2):c.109C>T (p.Pro37Ser)	RAG2 (P37S)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 2938106	NM_000536.4(RAG2):c.1442A>G (p.His481Arg)	RAG2 (H481R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GPathogenic
Select item 2937571	NM_000536.4(RAG2):c.1230G>A (p.Glu410=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2937397	NM_000536.4(RAG2):c.1575G>A (p.Leu525=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2937155	NM_000536.4(RAG2):c.684C>T (p.Ile228=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2937130	NM_000536.4(RAG2):c.1461T>G (p.Ala487=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2935560	NM_000536.4(RAG2):c.1441C>G (p.His481Asp)	RAG2 (H481D)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GPathogenic
Select item 2934721	NM_000536.4(RAG2):c.576T>C (p.Ala192=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2934250	NM_000536.4(RAG2):c.624C>T (p.Val208=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2933731	NM_000536.4(RAG2):c.65T>C (p.Met22Thr)	RAG2 (M22T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 2933346	NM_000536.4(RAG2):c.1210G>T (p.Glu404Ter)	RAG2 (E404*)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GPathogenic
Select item 2933007	NM_000536.4(RAG2):c.1227T>C (p.Asp409=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2932344	NM_000536.4(RAG2):c.864C>T (p.Asn288=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2930686	NM_000536.4(RAG2):c.264G>A (p.Lys88=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2930685	NM_000536.4(RAG2):c.438C>T (p.Tyr146=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2930684	NM_000536.4(RAG2):c.666T>C (p.His222=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2930683	NM_000536.4(RAG2):c.1068T>C (p.Asn356=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2930385	NM_000536.4(RAG2):c.123C>T (p.Cys41=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2930375	NM_000536.4(RAG2):c.1347G>A (p.Gly449=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2928884	NM_000536.4(RAG2):c.771T>C (p.Ser257=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2928095	NM_000536.4(RAG2):c.1257C>G (p.Cys419Trp)	RAG2 (C419W)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GPathogenic
Select item 2922688	NM_000536.4(RAG2):c.273C>T (p.Tyr91=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2922184	NM_000536.4(RAG2):c.103G>A (p.Gly35Ser)	RAG2 (G35S)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely pathogenic
Select item 2921916	NM_000536.4(RAG2):c.525A>C (p.Val175=)	RAG2	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 2921722	NM_000536.4(RAG2):c.16G>A (p.Val6Ile)	RAG2 (V6I)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 2690685	NM_000536.4(RAG2):c.1043T>A (p.Leu348Ter)	RAG2 (L348*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2683146	NM_000536.4(RAG2):c.1228G>C (p.Glu410Gln)	RAG2 (E410Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2678222	NM_000536.4(RAG2):c.356del (p.Lys119fs)	RAG2 (K119fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas	GLikely pathogenic
Select item 2678220	NM_000536.4(RAG2):c.479C>A (p.Ser160Ter)	RAG2 (S160*)	Single nucleotide variant (nonsense)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic/Likely pathogenic
Select item 2678219	NM_000536.4(RAG2):c.1274_1280dup (p.Asn428fs)	RAG2 (N428fs)	Duplication (frameshift variant)	Combined immunodeficiency with skin granulomas	GLikely pathogenic
Select item 2678218	NM_000536.4(RAG2):c.133_146del (p.Val45fs)	RAG2 (V45fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas	GLikely pathogenic
Select item 2678217	NM_000536.4(RAG2):c.1038T>A (p.Tyr346Ter)	RAG2 (Y346*)	Single nucleotide variant (nonsense)	Combined immunodeficiency with skin granulomas	GLikely pathogenic
Select item 2678216	NM_000536.4(RAG2):c.548dup (p.Leu184fs)	RAG2 (L184fs)	Duplication (frameshift variant)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic/Likely pathogenic
Select item 2678215	NM_000536.4(RAG2):c.171del (p.Lys58fs)	RAG2 (K58fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas	GPathogenic
Select item 2678214	NM_000536.4(RAG2):c.951G>A (p.Trp317Ter)	RAG2 (W317*)	Single nucleotide variant (nonsense)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic/Likely pathogenic
Select item 2678213	NM_000536.4(RAG2):c.1142_1143del (p.Asp380_Ser381insTer)	RAG2	Microsatellite (nonsense)	Combined immunodeficiency with skin granulomas	GPathogenic
Select item 2641727	NM_000536.4(RAG2):c.1392C>A (p.Arg464=)	RAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622359	NM_000536.4(RAG2):c.619C>T (p.His207Tyr)	RAG2 (H207Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618577	NM_000536.4(RAG2):c.700T>C (p.Tyr234His)	RAG2 (Y234H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585038	NM_000536.4(RAG2):c.410G>A (p.Arg137Lys)	RAG2 (R137K)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	GUncertain significance
Select item 2419989	NM_000536.4(RAG2):c.1444G>A (p.Val482Met)	RAG2 (V482M)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 2392889	NM_000536.4(RAG2):c.1295C>G (p.Pro432Arg)	RAG2 (P432R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301303	NM_000536.4(RAG2):c.48G>T (p.Gln16His)	RAG2 (Q16H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299638	NM_000536.4(RAG2):c.817A>G (p.Ile273Val)	RAG2 (I273V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266986	NM_000536.4(RAG2):c.457G>A (p.Gly153Ser)	RAG2 (G153S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242308	NM_000536.4(RAG2):c.919T>G (p.Trp307Gly)	RAG2 (W307G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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