5896[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 59751	GRCh38/hg38 11p13-12(chr11:34161694-36799127)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GPathogenic
Select item 154920	GRCh38/hg38 11p13-12(chr11:34168931-36820798)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GUncertain significance
Select item 59413	GRCh38/hg38 11p13-12(chr11:35103218-38791492)x1	CD44, CD44-AS1 +66 more	Copy number loss	See cases	GUncertain significance
Select item 57374	GRCh38/hg38 11p13-12(chr11:35135480-37649168)x1	CD44, CD44-AS1 +56 more	Copy number loss	See cases	GUncertain significance
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	LOC130005622, LOC130005623 +224 more	Copy number loss	See cases	GPathogenic
Select item 149701	GRCh38/hg38 11p13-12(chr11:36007377-40318124)x1	COMMD9, IFTAP +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 152867	GRCh38/hg38 11p12(chr11:36487236-40907935)x1	IFTAP, LINC01493 +22 more	Copy number loss	See cases	GUncertain significance
Select item 304487	NM_000448.3(RAG1):c.-114G>A	RAG1	Single nucleotide variant (5 prime UTR variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 304488	NM_000448.3(RAG1):c.-65A>G	RAG1	Single nucleotide variant (5 prime UTR variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GBenign
Select item 304489	NM_000448.3(RAG1):c.-15+12A>G	RAG1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 304490	NM_000448.3(RAG1):c.-10C>T	RAG1	Single nucleotide variant (5 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 304491	NM_000448.3(RAG1):c.1A>G (p.Met1Val)	RAG1 (M1V)	Single nucleotide variant (missense variant +1 more)	Recombinase activating gene 1 deficiency	GUncertain significance FDA Recognized database
Select item 2927331	NM_000448.3(RAG1):c.9C>T (p.Ala3=)	RAG1	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 971195	NM_000448.3(RAG1):c.15C>G (p.Phe5Leu)	RAG1 (F5L)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 2098676	NM_000448.3(RAG1):c.17C>T (p.Pro6Leu)	RAG1 (P6L)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
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 1515226	NM_000448.3(RAG1):c.29G>T (p.Gly10Val)	RAG1 (G10V)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 304492	NM_000448.3(RAG1):c.37T>G (p.Ser13Ala)	RAG1 (S13A)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significance FDA Recognized database
Select item 1348464	NM_000448.3(RAG1):c.40G>A (p.Ala14Thr)	RAG1 (A14T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1123242	NM_000448.3(RAG1):c.47A>G (p.Asp16Gly)	RAG1 (D16G)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +2 more	GConflicting classifications of pathogenicity
Select item 2949875	NM_000448.3(RAG1):c.54del (p.Gln19fs)	RAG1 (Q19fs)	Deletion (frameshift variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GPathogenic
Select item 536965	NM_000448.3(RAG1):c.60C>T (p.His20=)	RAG1	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)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 763728	NM_000448.3(RAG1):c.63A>T (p.Pro21=)	RAG1	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 2943227	NM_000448.3(RAG1):c.66T>C (p.His22=)	RAG1	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 2269371	NM_000448.3(RAG1):c.76T>C (p.Ser26Pro)	RAG1 (S26P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 757282	NM_000448.3(RAG1):c.78A>G (p.Ser26=)	RAG1	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 843919	NM_000448.3(RAG1):c.82T>C (p.Trp28Arg)	RAG1 (W28R)	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 2079766	NM_000448.3(RAG1):c.86A>G (p.Lys29Arg)	RAG1 (K29R)	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 660741	NM_000448.3(RAG1):c.94C>G (p.Leu32Val)	RAG1 (L32V)	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 1447504	NM_000448.3(RAG1):c.98T>A (p.Phe33Tyr)	RAG1 (F33Y)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 536958	NM_000448.3(RAG1):c.101G>A (p.Arg34Gln)	RAG1 (R34Q)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +3 more	GUncertain significance
Select item 2943088	NM_000448.3(RAG1):c.103G>A (p.Val35Met)	RAG1 (V35M)	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 1476434	NM_000448.3(RAG1):c.104T>A (p.Val35Glu)	RAG1 (V35E)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 2934047	NM_000448.3(RAG1):c.105G>A (p.Val35=)	RAG1	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 1972558	NM_000448.3(RAG1):c.109T>G (p.Ser37Ala)	RAG1 (S37A)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 1143489	NM_000448.3(RAG1):c.117A>G (p.Glu39=)	RAG1	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 2933670	NM_000448.3(RAG1):c.120G>A (p.Lys40=)	RAG1	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 1007126	NM_000448.3(RAG1):c.124C>T (p.Pro42Ser)	RAG1 (P42S)	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 2935831	NM_000448.3(RAG1):c.126T>C (p.Pro42=)	RAG1	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 2953026	NM_000448.3(RAG1):c.129A>G (p.Glu43=)	RAG1	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 1503814	NM_000448.3(RAG1):c.130G>A (p.Glu44Lys)	RAG1 (E44K)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 1965960	NM_000448.3(RAG1):c.135T>G (p.Ala45=)	RAG1	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 1210074	NM_000448.3(RAG1):c.140del (p.Lys47fs)	RAG1 (K47fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 3151183	NM_000448.3(RAG1):c.139A>G (p.Lys47Glu)	RAG1 (K47E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2682500	NM_000448.3(RAG1):c.145AAG[1] (p.Lys50del)	RAG1 (K50del)	Microsatellite (inframe_deletion)	not specified	GUncertain significance
Select item 799027	NM_000448.3(RAG1):c.150G>A (p.Lys50=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2623405	NM_000448.3(RAG1):c.151G>C (p.Asp51His)	RAG1 (D51H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 304493	NM_000448.3(RAG1):c.152A>T (p.Asp51Val)	RAG1 (D51V)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +2 more	GUncertain significance
Select item 1137717	NM_000448.3(RAG1):c.156C>T (p.Ser52=)	RAG1	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 2929748	NM_000448.3(RAG1):c.162G>A (p.Glu54=)	RAG1	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 2113372	NM_000448.3(RAG1):c.174T>C (p.Ser58=)	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 2678194	NM_000448.3(RAG1):c.181C>T (p.Gln61Ter)	RAG1 (Q61*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to partial RAG1 deficiency	GLikely pathogenic
Select item 2923237	NM_000448.3(RAG1):c.186T>G (p.Ser62=)	RAG1	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 1439543	NM_000448.3(RAG1):c.187C>T (p.Pro63Ser)	RAG1 (P63S)	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 877524	NM_000448.3(RAG1):c.187C>G (p.Pro63Ala)	RAG1 (P63A)	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 2925781	NM_000448.3(RAG1):c.189A>T (p.Pro63=)	RAG1	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 36711	NM_000448.3(RAG1):c.189A>G (p.Pro63=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +5 more	GBenign/Likely benign
Select item 566356	NM_000448.3(RAG1):c.191C>T (p.Ala64Val)	RAG1 (A64V)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 1054493	NM_000448.3(RAG1):c.193G>A (p.Val65Ile)	RAG1 (V65I)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 1038262	NM_000448.3(RAG1):c.193G>T (p.Val65Phe)	RAG1 (V65F)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 1051848	NM_000448.3(RAG1):c.194T>C (p.Val65Ala)	RAG1 (V65A)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 2921388	NM_000448.3(RAG1):c.206del (p.Ala69fs)	RAG1 (A69fs)	Deletion (frameshift variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GPathogenic
Select item 1679564	NM_000448.3(RAG1):c.206C>G (p.Ala69Gly)	RAG1 (A69G)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +3 more	GUncertain significance
Select item 2930501	NM_000448.3(RAG1):c.213T>C (p.Gly71=)	RAG1	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 1409962	NM_000448.3(RAG1):c.215A>G (p.Gln72Arg)	RAG1 (Q72R)	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 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 2949351	NM_000448.3(RAG1):c.228A>G (p.Pro76=)	RAG1	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 656019	NM_000448.3(RAG1):c.232C>G (p.Gln78Glu)	RAG1 (Q78E)	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 2935779	NM_000448.3(RAG1):c.237A>G (p.Pro79=)	RAG1	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 2938536	NM_000448.3(RAG1):c.238T>C (p.Leu80=)	RAG1	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 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 651871	NM_000448.3(RAG1):c.248C>T (p.Ala83Val)	RAG1 (A83V)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 378467	NM_000448.3(RAG1):c.251A>G (p.His84Arg)	RAG1 (H84R)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GBenign FDA Recognized database
Select item 2174792	NM_000448.3(RAG1):c.252C>T (p.His84=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 1395308	NM_000448.3(RAG1):c.253C>G (p.Pro85Ala)	RAG1 (P85A)	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 1371477	NM_000448.3(RAG1):c.253C>T (p.Pro85Ser)	RAG1 (P85S)	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 1705466	NM_000448.3(RAG1):c.256A>T (p.Lys86Ter)	RAG1 (K86*)	Single nucleotide variant (nonsense)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 285045	NM_000448.3(RAG1):c.256_257del (p.Lys86fs)	RAG1	Deletion (frameshift variant)	Recombinase activating gene 1 deficiency	GPathogenic FDA Recognized database
Select item 1109964	NM_000448.3(RAG1):c.258G>A (p.Lys86=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 2111247	NM_000448.3(RAG1):c.264A>T (p.Ser88=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 966042	NM_000448.3(RAG1):c.276C>A (p.His92Gln)	RAG1 (H92Q)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +2 more	GUncertain significance
Select item 733202	NM_000448.3(RAG1):c.276C>T (p.His92=)	RAG1	Single nucleotide variant (synonymous variant)	Histiocytic medullary reticulosis +2 more	GConflicting classifications of pathogenicity
Select item 1493518	NM_000448.3(RAG1):c.277G>A (p.Asp93Asn)	RAG1 (D93N)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 1571558	NM_000448.3(RAG1):c.282C>T (p.Asn94=)	RAG1	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 665785	NM_000448.3(RAG1):c.283G>A (p.Glu95Lys)	RAG1 (E95K)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +2 more	GUncertain significance
Select item 2177858	NM_000448.3(RAG1):c.284A>G (p.Glu95Gly)	RAG1 (E95G)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 2038975	NM_000448.3(RAG1):c.284A>C (p.Glu95Ala)	RAG1 (E95A)	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 2947924	NM_000448.3(RAG1):c.291A>C (p.Ala97=)	RAG1	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 702049	NM_000448.3(RAG1):c.295G>A (p.Gly99Ser)	RAG1 (G99S)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 877525	NM_000448.3(RAG1):c.296G>A (p.Gly99Asp)	RAG1 (G99D)	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 2936020	NM_000448.3(RAG1):c.297C>G (p.Gly99=)	RAG1	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 2089845	NM_000448.3(RAG1):c.297C>T (p.Gly99=)	RAG1	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 1984070	NM_000448.3(RAG1):c.303G>T (p.Ala101=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 138882	NM_000448.3(RAG1):c.303G>A (p.Ala101=)	RAG1	Single nucleotide variant (synonymous variant)	Recombinase activating gene 1 deficiency	GBenign FDA Recognized database
Select item 2953456	NM_000448.3(RAG1):c.305_312del (p.Ile102fs)	RAG1 (I102fs)	Deletion (frameshift variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GPathogenic
Select item 966782	NM_000448.3(RAG1):c.308A>G (p.His103Arg)	RAG1 (H103R)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 1000868	NM_000448.3(RAG1):c.310C>G (p.Gln104Glu)	RAG1 (Q104E)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance

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