ClinVar for MedGen (Select 321935) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362720	NM_000536.4(RAG2):c.487C>T (p.Pro163Ser)	RAG2 (P163S)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	GUncertain significance
Select item 3362712	NM_000448.3(RAG1):c.865A>G (p.Lys289Glu)	RAG1 (K289E)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	GUncertain significance
Select item 3341474	NM_000448.3(RAG1):c.2879C>T (p.Ala960Val)	RAG1 (A960V)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	GUncertain significance
Select item 3340456	NM_000536.4(RAG2):c.749C>G (p.Thr250Arg)	RAG2 (T250R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	GLikely pathogenic
Select item 3235046	NM_000448.3(RAG1):c.1194TCT[1] (p.Leu400del)	RAG1 (L400del)	Microsatellite (inframe_deletion)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	GUncertain significance
Select item 3064796	NM_000448.3(RAG1):c.2882G>T (p.Ser961Ile)	RAG1 (S961I)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	GUncertain significance
Select item 2954525	NM_000448.3(RAG1):c.1380A>G (p.Gly460=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2954427	NM_000448.3(RAG1):c.2449G>T (p.Glu817Ter)	RAG1 (E817*)	Single nucleotide variant (nonsense)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic
Select item 2954424	NM_000448.3(RAG1):c.1213A>C (p.Arg405=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2954406	NM_000448.3(RAG1):c.1465A>G (p.Arg489Gly)	RAG1 (R489G)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 2954360	NM_000448.3(RAG1):c.870C>T (p.Ser290=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2954150	NM_000448.3(RAG1):c.561T>C (p.Phe187=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2954107	NM_000448.3(RAG1):c.1096G>T (p.Glu366Ter)	RAG1 (E366*)	Single nucleotide variant (nonsense)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic
Select item 2953504	NM_000448.3(RAG1):c.2700C>T (p.Cys900=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2953468	NM_000448.3(RAG1):c.546C>T (p.Ile182=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2953456	NM_000448.3(RAG1):c.305_312del (p.Ile102fs)	RAG1 (I102fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic
Select item 2953310	NM_000536.4(RAG2):c.442C>A (p.Arg148=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2953285	NM_000448.3(RAG1):c.2692T>C (p.Ser898Pro)	RAG1 (S898P)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 2953108	NM_000448.3(RAG1):c.2903_2907del (p.Asn968fs)	RAG1 (N968fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic
Select item 2953026	NM_000448.3(RAG1):c.129A>G (p.Glu43=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2952987	NM_000536.4(RAG2):c.207C>T (p.Leu69=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2952800	NM_000448.3(RAG1):c.2307T>C (p.His769=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2952699	NM_000448.3(RAG1):c.2139A>G (p.Lys713=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2952662	NM_000448.3(RAG1):c.2160C>G (p.Gly720=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2952638	NM_000448.3(RAG1):c.1623G>A (p.Leu541=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2952481	NM_000448.3(RAG1):c.1392C>G (p.Gly464=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2952413	NM_000536.4(RAG2):c.1104_1321del (p.Thr369fs)	RAG2 (T369fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic
Select item 2952288	NM_000448.3(RAG1):c.1428C>T (p.Asn476=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2952277	NM_000536.4(RAG2):c.1329G>C (p.Met443Ile)	RAG2 (M443I)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic
Select item 2952120	NM_000536.4(RAG2):c.24C>G (p.Val8=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2952103	NM_000536.4(RAG2):c.228C>T (p.Ala76=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2952082	NM_000448.3(RAG1):c.2010G>A (p.Thr670=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2952065	NM_000448.3(RAG1):c.2910G>A (p.Leu970=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2951943	NM_000448.3(RAG1):c.876C>A (p.Ser292=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2951846	NM_000448.3(RAG1):c.2033_2034del (p.Leu678fs)	RAG1 (L678fs)	Microsatellite (frameshift variant)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic
Select item 2951692	NM_000448.3(RAG1):c.630C>G (p.Ser210=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2951678	NM_000536.4(RAG2):c.72T>C (p.Phe24=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2951432	NM_000536.4(RAG2):c.84T>A (p.Val28=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2951431	NM_000536.4(RAG2):c.753C>T (p.Val251=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2951355	NM_000448.3(RAG1):c.2780T>C (p.Phe927Ser)	RAG1 (F927S)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely pathogenic
Select item 2951072	NM_000448.3(RAG1):c.1395G>A (p.Leu465=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2950871	NM_000448.3(RAG1):c.1608C>T (p.Gly536=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2950845	NM_000448.3(RAG1):c.918C>G (p.Thr306=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2950837	NM_000448.3(RAG1):c.2730C>T (p.Cys910=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2950695	NM_000536.4(RAG2):c.361_364del (p.Thr121fs)	RAG2 (T121fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic
Select item 2950665	NM_000448.3(RAG1):c.660A>G (p.Gly220=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2950556	NM_000448.3(RAG1):c.1692A>C (p.Ser564=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2950412	NM_000536.4(RAG2):c.951G>T (p.Trp317Cys)	RAG2 (W317C)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic
Select item 2950373	NM_000536.4(RAG2):c.718C>G (p.Leu240Val)	RAG2 (L240V)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 2950326	NM_000448.3(RAG1):c.2076T>C (p.Leu692=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2950169	NM_000536.4(RAG2):c.272_278del (p.Tyr91fs)	RAG2 (Y91fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic
Select item 2950054	NM_000536.4(RAG2):c.714T>C (p.Val238=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2949875	NM_000448.3(RAG1):c.54del (p.Gln19fs)	RAG1 (Q19fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic
Select item 2949810	NM_000448.3(RAG1):c.1104T>C (p.Ser368=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2949692	NM_000536.4(RAG2):c.786C>A (p.Ile262=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2949665	NM_000448.3(RAG1):c.1311G>A (p.Leu437=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2949351	NM_000448.3(RAG1):c.228A>G (p.Pro76=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2949195	NM_000536.4(RAG2):c.1062T>C (p.Asp354=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2949192	NM_000536.4(RAG2):c.9G>C (p.Leu3=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2948751	NM_000448.3(RAG1):c.627A>G (p.Pro209=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2948744	NM_000536.4(RAG2):c.1005T>C (p.Asn335=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2948728	NM_000448.3(RAG1):c.579G>A (p.Glu193=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2948709	NM_000536.4(RAG2):c.870C>T (p.Ile290=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2948396	NM_000536.4(RAG2):c.84T>C (p.Val28=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2947924	NM_000448.3(RAG1):c.291A>C (p.Ala97=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2947573	NM_000448.3(RAG1):c.1044G>A (p.Leu348=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2947391	NM_000448.3(RAG1):c.3103C>T (p.Leu1035=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2947154	NM_000448.3(RAG1):c.2088C>A (p.Gly696=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2947121	NM_000448.3(RAG1):c.175C>T (p.Leu59=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2947054	NM_000448.3(RAG1):c.27G>A (p.Leu9=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +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 2946995	NM_000448.3(RAG1):c.2805C>T (p.Ile935=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2946993	NM_000448.3(RAG1):c.2181C>A (p.Val727=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
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 2946894	NM_000448.3(RAG1):c.243A>G (p.Leu81=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2946697	NM_000448.3(RAG1):c.489G>A (p.Val163=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2946483	NM_000448.3(RAG1):c.1630C>T (p.Leu544=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2946354	NM_000448.3(RAG1):c.219G>A (p.Lys73=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2946291	NM_000448.3(RAG1):c.1392C>A (p.Gly464=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2946103	NM_000448.3(RAG1):c.375G>A (p.Arg125=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2946068	NM_000448.3(RAG1):c.3084A>T (p.Pro1028=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2945932	NM_000448.3(RAG1):c.1884A>T (p.Thr628=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2945684	NM_000448.3(RAG1):c.3078G>T (p.Gly1026=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2945442	NM_000448.3(RAG1):c.420T>C (p.Leu140=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2945356	NM_000448.3(RAG1):c.2598G>A (p.Val866=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2945353	NM_000448.3(RAG1):c.2178A>G (p.Ser726=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2945139	NM_000448.3(RAG1):c.1723G>T (p.Glu575Ter)	RAG1 (E575*)	Single nucleotide variant (nonsense)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic
Select item 2944957	NM_000536.4(RAG2):c.409A>C (p.Arg137=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2944946	NM_000536.4(RAG2):c.1545T>G (p.Thr515=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2944789	NM_000448.3(RAG1):c.63A>C (p.Pro21=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2944781	NM_000448.3(RAG1):c.1386C>T (p.Gly462=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2944539	NM_000536.4(RAG2):c.138C>T (p.Phe46=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2944474	NM_000448.3(RAG1):c.1231C>T (p.Leu411=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2944459	NM_000448.3(RAG1):c.937del (p.Cys313fs)	RAG1 (C313fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic
Select item 2944449	NM_000536.4(RAG2):c.747C>T (p.Cys249=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2944392	NM_000536.4(RAG2):c.936G>A (p.Lys312=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2944277	NM_000536.4(RAG2):c.924C>G (p.Thr308=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2944276	NM_000536.4(RAG2):c.726G>A (p.Leu242=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2944173	NM_000448.3(RAG1):c.804C>T (p.Asn268=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2944033	NM_000448.3(RAG1):c.659del (p.Gly220fs)	RAG1 (G220fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic

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