C2700553[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2969476	NM_001033855.3(DCLRE1C):c.1978_1981dup (p.Leu661Ter)	DCLRE1C (L546* +2 more)	Duplication (nonsense +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +2 more	GUncertain significance
Select item 2674754	NM_001033855.3(DCLRE1C):c.1830del (p.Asp611fs)	DCLRE1C (D491fs +2 more)	Deletion (frameshift variant +2 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2674749	NM_001033855.3(DCLRE1C):c.1797_1818dup (p.Ser607delinsGlyTyrLeuLeuTer)	DCLRE1C	Duplication (nonsense +2 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 3241283	NM_001033855.3(DCLRE1C):c.1808_1809del (p.Tyr602_Ser603insTer)	DCLRE1C	Microsatellite (nonsense +2 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2674759	NM_001033855.3(DCLRE1C):c.1803_1804dup (p.Tyr602fs)	DCLRE1C (Y482fs +2 more)	Duplication (frameshift variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GConflicting classifications of pathogenicity
Select item 945322	NM_001033855.3(DCLRE1C):c.1789del (p.Cys597fs)	DCLRE1C (C482fs +2 more)	Deletion (frameshift variant +2 more)	Histiocytic medullary reticulosis +1 more	GConflicting classifications of pathogenicity
Select item 2197015	NM_001033855.3(DCLRE1C):c.1784dup (p.Ile596fs)	DCLRE1C (I481fs +2 more)	Duplication (frameshift variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2674762	NM_001033855.3(DCLRE1C):c.1777C>T (p.Gln593Ter)	DCLRE1C (Q473* +2 more)	Single nucleotide variant (nonsense +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 3241279	NM_001033855.3(DCLRE1C):c.1774G>T (p.Glu592Ter)	DCLRE1C (E472* +2 more)	Single nucleotide variant (nonsense +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2674756	NM_001033855.3(DCLRE1C):c.1749dup (p.Glu584fs)	DCLRE1C (E464fs +2 more)	Duplication (frameshift variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 3241284	NM_001033855.3(DCLRE1C):c.1706dup (p.Asp569fs)	DCLRE1C (D449fs +2 more)	Duplication (frameshift variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2503950	NM_001033855.3(DCLRE1C):c.1696_1699dup (p.Ser567fs)	DCLRE1C (S447fs +2 more)	Duplication (frameshift variant +1 more)	Histiocytic medullary reticulosis +1 more	GConflicting classifications of pathogenicity
Select item 1324212	NM_001033855.3(DCLRE1C):c.1628_1632del (p.Ile543fs)	DCLRE1C (I423fs +2 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2674751	NM_001033855.3(DCLRE1C):c.1574_1575del (p.Asp524_Ser525insTer)	DCLRE1C	Microsatellite (nonsense +1 more)	Histiocytic medullary reticulosis +1 more	GPathogenic/Likely pathogenic
Select item 2674746	NM_001033855.3(DCLRE1C):c.1539_1540del (p.Gly515fs)	DCLRE1C (G395fs +2 more)	Deletion (frameshift variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 3241285	NM_001033855.3(DCLRE1C):c.1513G>T (p.Glu505Ter)	DCLRE1C (E385* +2 more)	Single nucleotide variant (nonsense +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 636472	NM_001033855.3(DCLRE1C):c.1492dup (p.Glu498fs)	DCLRE1C (E498fs +2 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 2674758	NM_001033855.3(DCLRE1C):c.1442dup (p.Ala482fs)	DCLRE1C (A362fs +2 more)	Duplication (frameshift variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 1453673	NM_001033855.3(DCLRE1C):c.1442del (p.Lys481fs)	DCLRE1C (K366fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GPathogenic/Likely pathogenic
Select item 4675	NM_001033855.3(DCLRE1C):c.1350_1356del (p.Asp451fs)	DCLRE1C (D451fs +2 more)	Deletion (frameshift variant +1 more)	Histiocytic medullary reticulosis +1 more	GPathogenic
Select item 2674745	NM_001033855.3(DCLRE1C):c.1324C>T (p.Gln442Ter)	DCLRE1C (Q322* +2 more)	Single nucleotide variant (nonsense +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2674755	NM_001033855.3(DCLRE1C):c.1319_1320del (p.Cys440fs)	DCLRE1C (C320fs +2 more)	Microsatellite (frameshift variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 958957	NM_001033855.3(DCLRE1C):c.1265C>A (p.Ser422Ter)	DCLRE1C (S307* +2 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2674744	NM_001033855.3(DCLRE1C):c.1238del (p.Pro413fs)	DCLRE1C (P293fs +2 more)	Deletion (frameshift variant +1 more)	Histiocytic medullary reticulosis +1 more	GPathogenic/Likely pathogenic
Select item 3241290	NM_001033855.3(DCLRE1C):c.1159_1184dup (p.Asp395fs)	DCLRE1C (D275fs +2 more)	Duplication (frameshift variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 3241288	NM_001033855.3(DCLRE1C):c.1176_1179del (p.Phe393fs)	DCLRE1C (F273fs +2 more)	Deletion (frameshift variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 3241292	NM_001033855.3(DCLRE1C):c.1156+1G>A	DCLRE1C	Single nucleotide variant (splice donor variant)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 3241281	NM_001033855.3(DCLRE1C):c.1106dup (p.Tyr369Ter)	DCLRE1C (Y249* +2 more)	Duplication (nonsense +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2707873	NM_001033855.3(DCLRE1C):c.1103del (p.Lys368fs)	DCLRE1C (K248fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GPathogenic/Likely pathogenic
Select item 3241287	NM_001033855.3(DCLRE1C):c.973-1G>A	DCLRE1C	Single nucleotide variant (splice acceptor variant)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 3241280	NM_001033855.3(DCLRE1C):c.928_929dup (p.Ser310fs)	DCLRE1C (S190fs +2 more)	Microsatellite (frameshift variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 3241289	NM_001033855.3(DCLRE1C):c.879G>A (p.Trp293Ter)	DCLRE1C (W173* +2 more)	Single nucleotide variant (nonsense +1 more)	Histiocytic medullary reticulosis	GPathogenic
Select item 1368634	NM_001033855.3(DCLRE1C):c.816T>A (p.Cys272Ter)	DCLRE1C (C152* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Histiocytic medullary reticulosis +1 more	GPathogenic/Likely pathogenic
Select item 666082	NM_001033855.3(DCLRE1C):c.754C>T (p.Gln252Ter)	DCLRE1C (Q132* +2 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2674757	NM_001033855.3(DCLRE1C):c.716del (p.Pro239fs)	DCLRE1C (P119fs +2 more)	Deletion (frameshift variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2998223	NM_001033855.3(DCLRE1C):c.678+2T>G	DCLRE1C	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GLikely pathogenic
Select item 2674763	NM_001033855.3(DCLRE1C):c.678+1G>A	DCLRE1C	Single nucleotide variant (splice donor variant)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2674750	NM_001033855.3(DCLRE1C):c.676C>T (p.Gln226Ter)	DCLRE1C (Q106* +2 more)	Single nucleotide variant (nonsense +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 1071466	NM_001033855.3(DCLRE1C):c.671del (p.Gly224fs)	DCLRE1C (G104fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GPathogenic/Likely pathogenic
Select item 3241282	NM_001033855.3(DCLRE1C):c.595_596dup (p.His200fs)	DCLRE1C (H200fs +2 more)	Duplication (frameshift variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 4673	NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter)	DCLRE1C (Y199* +2 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic FDA Recognized database
Select item 1322192	NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter)	DCLRE1C (R191* +2 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic FDA Recognized database
Select item 3241291	NM_001033855.3(DCLRE1C):c.538-1G>A	DCLRE1C	Single nucleotide variant (splice acceptor variant)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2674748	NM_001033855.3(DCLRE1C):c.488_491del (p.Tyr163fs)	DCLRE1C (Y163fs +2 more)	Deletion (frameshift variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 1494117	NM_001033855.3(DCLRE1C):c.465-2A>C	DCLRE1C	Single nucleotide variant (splice acceptor variant)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GLikely pathogenic
Select item 2674752	NM_001033855.3(DCLRE1C):c.464+2T>C	DCLRE1C	Single nucleotide variant (splice donor variant)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 872164	NM_001033855.3(DCLRE1C):c.464+1G>A	DCLRE1C	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 936913	NM_001033855.3(DCLRE1C):c.461del (p.Gly154fs)	DCLRE1C (G39fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2674747	NM_001033855.3(DCLRE1C):c.416T>A (p.Leu139Ter)	DCLRE1C (L139* +2 more)	Single nucleotide variant (nonsense +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 4670	NM_001033855.3(DCLRE1C):c.362+1G>T	DCLRE1C	Single nucleotide variant (intron variant +2 more)	Histiocytic medullary reticulosis	GPathogenic
Select item 852821	NM_001033855.3(DCLRE1C):c.352G>T (p.Gly118Ter)	DCLRE1C (G118*)	Single nucleotide variant (nonsense +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic FDA Recognized database
Select item 2674742	NM_001033855.3(DCLRE1C):c.330_331del (p.Leu111fs)	DCLRE1C (L111fs)	Microsatellite (frameshift variant +3 more)	Histiocytic medullary reticulosis +1 more	GPathogenic/Likely pathogenic
Select item 1388521	NM_001033855.3(DCLRE1C):c.310_313del	DCLRE1C	Microsatellite (intron variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1465086	NM_001033855.3(DCLRE1C):c.306+2T>A	DCLRE1C	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GLikely pathogenic
Select item 3241286	NM_001033855.3(DCLRE1C):c.306+1G>A	DCLRE1C	Single nucleotide variant (splice donor variant)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2674761	NM_001033855.3(DCLRE1C):c.274dup (p.Gln92fs)	DCLRE1C (Q92fs)	Duplication (frameshift variant +2 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 2674765	NM_001033855.3(DCLRE1C):c.246+2T>G	DCLRE1C	Single nucleotide variant (splice donor variant +1 more)	Histiocytic medullary reticulosis	GLikely pathogenic
Select item 4665	NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter)	DCLRE1C (R81*)	Single nucleotide variant (nonsense +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic FDA Recognized database
Select item 2674764	NM_001033855.3(DCLRE1C):c.184_191del (p.Ser62fs)	DCLRE1C (S62fs)	Deletion (frameshift variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GPathogenic/Likely pathogenic
Select item 969751	NM_001033855.3(DCLRE1C):c.109+1G>T	DCLRE1C	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic FDA Recognized database
Select item 4674	NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp)	DCLRE1C (H35D)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GPathogenic FDA Recognized database
Select item 1438811	NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe)	DCLRE1C (S32F)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic FDA Recognized database
Select item 1069380	NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr)	DCLRE1C (I16T)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic FDA Recognized database
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 1030806	NM_000448.3(RAG1):c.365A>T (p.Glu122Val)	RAG1 (E122V)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis	GUncertain significance
Select item 626157	NM_000448.3(RAG1):c.424C>T (p.Arg142Ter)	RAG1 (R142*)	Single nucleotide variant (nonsense)	Recombinase activating gene 1 deficiency	GPathogenic FDA Recognized database
Select item 624599	NM_000448.3(RAG1):c.519del (p.Glu174fs)	RAG1 (E174fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 1705584	NM_000448.3(RAG1):c.540G>A (p.Trp180Ter)	RAG1 (W180*)	Single nucleotide variant (nonsense)	Histiocytic medullary reticulosis +1 more	GLikely pathogenic
Select item 235411	NM_000448.3(RAG1):c.775del (p.Ser259fs)	RAG1 (S259fs)	Deletion (frameshift variant)	Recombinase activating gene 1 deficiency	GPathogenic FDA Recognized database
Select item 13160	NM_000448.3(RAG1):c.983G>A (p.Cys328Tyr)	RAG1 (C328Y)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +2 more	GPathogenic
Select item 13144	NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys)	RAG1 (R396C)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis +4 more	GPathogenic
Select item 13146	NM_000448.3(RAG1):c.1187G>A (p.Arg396His)	RAG1 (R396H)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +3 more	GPathogenic
Select item 1072413	NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln)	RAG1 (R404Q)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +4 more	GPathogenic
Select item 859249	NM_000448.3(RAG1):c.1228C>T (p.Arg410Trp)	RAG1 (R410W)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +3 more	GPathogenic/Likely pathogenic
Select item 68680	NM_000448.3(RAG1):c.1303A>G (p.Met435Val)	RAG1 (M435V)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +5 more	GPathogenic/Likely pathogenic
Select item 68684	NM_000448.3(RAG1):c.1421G>A (p.Arg474His)	RAG1 (R474H)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 13150	NM_000448.3(RAG1):c.1612_1624del (p.Ile538fs)	RAG1 (I538fs)	Deletion (frameshift variant)	Combined immunodeficiency due to partial RAG1 deficiency +2 more	GPathogenic
Select item 13148	NM_000448.3(RAG1):c.1681C>T (p.Arg561Cys)	RAG1 (R561C)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +4 more	GPathogenic
Select item 13143	NM_000448.3(RAG1):c.1682G>A (p.Arg561His)	RAG1 (R561H)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +3 more	GPathogenic/Likely pathogenic
Select item 68689	NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp)	RAG1 (R699W)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GLikely pathogenic FDA Recognized database
Select item 13149	NM_000448.3(RAG1):c.2210G>A (p.Arg737His)	RAG1 (R737H)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +4 more	GPathogenic/Likely pathogenic
Select item 859248	NM_000448.3(RAG1):c.2275C>T (p.Arg759Cys)	RAG1 (R759C)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +3 more	GLikely pathogenic
Select item 573434	NM_000448.3(RAG1):c.2348C>G (p.Ser783Ter)	RAG1 (S783*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to partial RAG1 deficiency +3 more	GPathogenic/Likely pathogenic
Select item 488725	NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter)	RAG1 (R897*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to partial RAG1 deficiency +5 more	GPathogenic
Select item 1323517	NM_000448.3(RAG1):c.2850del (p.Ile950fs)	RAG1 (I950fs)	Deletion (frameshift variant)	Histiocytic medullary reticulosis +3 more	GPathogenic/Likely pathogenic
Select item 496628	NM_000536.4(RAG2):c.1332C>G (p.Ile444Met)	RAG2 (I444M)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GLikely pathogenic FDA Recognized database
Select item 949466	NM_000536.4(RAG2):c.1290G>A (p.Trp430Ter)	RAG2 (W430*)	Single nucleotide variant (nonsense)	Combined immunodeficiency with skin granulomas +2 more	GLikely pathogenic
Select item 36717	NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu)	RAG2 (W416L)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GLikely pathogenic FDA Recognized database
Select item 1075544	NM_000536.4(RAG2):c.829dup (p.Tyr277fs)	RAG2 (Y277fs)	Duplication (frameshift variant)	Recombinase activating gene 2 deficiency	GPathogenic FDA Recognized database
Select item 13130	NM_000536.4(RAG2):c.686G>A (p.Arg229Gln)	RAG2 (R229Q)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GPathogenic FDA Recognized database
Select item 496624	NM_000536.4(RAG2):c.685C>T (p.Arg229Trp)	RAG2 (R229W)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GPathogenic FDA Recognized database
Select item 1339534	NM_000536.4(RAG2):c.475C>T (p.Arg159Cys)	RAG2 (R159C)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +3 more	GPathogenic/Likely pathogenic
Select item 1073477	NM_000536.4(RAG2):c.442C>T (p.Arg148Ter)	RAG2 (R148*)	Single nucleotide variant (nonsense)	Combined immunodeficiency with skin granulomas +2 more	GPathogenic
Select item 704774	NM_000536.4(RAG2):c.367C>T (p.Arg123Cys)	RAG2 (R123C)	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 13133	NM_000536.4(RAG2):c.283G>A (p.Gly95Arg)	RAG2 (G95R)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GLikely pathogenic FDA Recognized database
Select item 496620	NM_000536.4(RAG2):c.218G>A (p.Arg73His)	RAG2 (R73H)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +6 more	GConflicting classifications of pathogenicity
Select item 36719	NM_000536.4(RAG2):c.217C>T (p.Arg73Cys)	RAG2 (R73C)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GLikely pathogenic FDA Recognized database
Select item 1029902	NM_000536.4(RAG2):c.110C>T (p.Pro37Leu)	RAG2 (P37L)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GConflicting classifications of pathogenicity
Select item 496618	NM_000536.4(RAG2):c.104G>T (p.Gly35Val)	RAG2 (G35V)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +5 more	GPathogenic/Likely pathogenic

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Items: 99