ClinVar for MedGen (Select 398130) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 461

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061743	NM_001033855.3(DCLRE1C):c.1085C>N (p.Ser362Xaa)	DCLRE1C (S242* +2 more)	Single nucleotide variant (missense variant +1 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 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 2674763	NM_001033855.3(DCLRE1C):c.678+1G>A	DCLRE1C	Single nucleotide variant (splice donor variant)	Histiocytic medullary reticulosis	GLikely pathogenic
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 2674761	NM_001033855.3(DCLRE1C):c.274dup (p.Gln92fs)	DCLRE1C (Q92fs)	Duplication (frameshift variant +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 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 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 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 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 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 2674752	NM_001033855.3(DCLRE1C):c.464+2T>C	DCLRE1C	Single nucleotide variant (splice donor variant)	Histiocytic medullary reticulosis	GLikely 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 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 2674749	NM_001033855.3(DCLRE1C):c.1797_1818dup (p.Ser607delinsGlyTyrLeuLeuTer)	DCLRE1C	Duplication (nonsense +2 more)	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 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 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 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 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 2674742	NM_001033855.3(DCLRE1C):c.330_331del (p.Leu111fs)	DCLRE1C (L111fs)	Microsatellite (5 prime UTR variant +3 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2503950	NM_001033855.3(DCLRE1C):c.1696_1699dup (p.Ser567fs)	DCLRE1C (S447fs +2 more)	Duplication (frameshift variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2197015	NM_001033855.3(DCLRE1C):c.1784dup (p.Ile596fs)	DCLRE1C (I481fs +2 more)	Duplication (non-coding transcript variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GConflicting classifications of pathogenicity
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 1705466	NM_000448.3(RAG1):c.256A>T (p.Lys86Ter)	RAG1 (K86*)	Single nucleotide variant (nonsense)	Histiocytic medullary reticulosis	GLikely pathogenic
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 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 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 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 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 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 1339534	NM_000536.4(RAG2):c.475C>T (p.Arg159Cys)	RAG2 (R159C)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis +2 more	GPathogenic/Likely pathogenic
Select item 1323517	NM_000448.3(RAG1):c.2850del (p.Ile950fs)	RAG1 (I950fs)	Deletion (frameshift variant)	Combined immunodeficiency due to partial RAG1 deficiency +3 more	GPathogenic/Likely pathogenic
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 1255460	NM_001193424.2(SUV39H2):c.850-305C>T	DCLRE1C, SUV39H2	Single nucleotide variant (3 prime UTR variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +2 more	GBenign
Select item 1209660	NM_000536.4(RAG2):c.682A>T (p.Ile228Phe)	RAG2 (I228F)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis +2 more	GUncertain significance
Select item 1199355	NM_001033855.3(DCLRE1C):c.1249T>G (p.Ser417Ala)	DCLRE1C (S297A +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GUncertain significance
Select item 1199335	NM_001033855.3(DCLRE1C):c.17G>A (p.Gly6Glu)	DCLRE1C (G6E)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 1177501	GRCh37/hg19 10p13(chr10:14945105-14954010)x3	DCLRE1C, SUV39H2	Copy number gain	Histiocytic medullary reticulosis +1 more	Gnot provided
Select item 1131805	NM_001033855.3(DCLRE1C):c.456C>T (p.Ser152=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Histiocytic medullary reticulosis +1 more	GConflicting classifications of pathogenicity
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 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 1072413	NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln)	RAG1 (R404Q)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +4 more	GPathogenic
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 1069380	NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr)	DCLRE1C (I16T)	Single nucleotide variant (5 prime UTR variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic FDA Recognized database
Select item 1045150	NM_000536.4(RAG2):c.326T>A (p.Val109Asp)	RAG2 (V109D)	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 1030806	NM_000448.3(RAG1):c.365A>T (p.Glu122Val)	RAG1 (E122V)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis	GUncertain significance
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 1009021	NM_000536.4(RAG2):c.802A>C (p.Asn268His)	RAG2 (N268H)	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 1003883	NM_000536.4(RAG2):c.1367C>A (p.Ala456Asp)	RAG2 (A456D)	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 1001223	NM_000536.4(RAG2):c.1025G>A (p.Gly342Glu)	RAG2 (G342E)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 1001151	NM_000536.4(RAG2):c.1564C>T (p.Leu522Phe)	RAG2 (L522F)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 990457	NM_000536.4(RAG2):c.19A>G (p.Thr7Ala)	RAG2 (T7A)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis	GUncertain significance
Select item 990456	NM_000536.4(RAG2):c.77G>C (p.Gly26Ala)	RAG2 (G26A)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis	GUncertain significance
Select item 990455	NM_000536.4(RAG2):c.328A>G (p.Met110Val)	RAG2 (M110V)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis	GUncertain significance
Select item 990454	NM_000536.4(RAG2):c.335T>C (p.Ile112Thr)	RAG2 (I112T)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis	GUncertain significance
Select item 990453	NM_000536.4(RAG2):c.459T>A (p.Gly153=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 990452	NM_000536.4(RAG2):c.528T>C (p.Ala176=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 990451	NM_000536.4(RAG2):c.911C>T (p.Thr304Ile)	RAG2 (T304I)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis	GUncertain significance
Select item 990450	NM_000536.4(RAG2):c.917A>G (p.Asp306Gly)	RAG2 (D306G)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis	GUncertain significance
Select item 990449	NM_000536.4(RAG2):c.977C>T (p.Thr326Ile)	RAG2 (T326I)	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 990448	NM_000536.4(RAG2):c.986T>G (p.Leu329Arg)	RAG2 (L329R)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis	GUncertain significance
Select item 990447	NM_000536.4(RAG2):c.1037A>G (p.Tyr346Cys)	RAG2 (Y346C)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis	GUncertain significance
Select item 990446	NM_000536.4(RAG2):c.1109A>G (p.Glu370Gly)	RAG2 (E370G)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis	GUncertain significance
Select item 990445	NM_000536.4(RAG2):c.1191T>C (p.Asp397=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 989768	NM_001033855.3(DCLRE1C):c.110-3del	DCLRE1C	Deletion (intron variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 989767	NM_001033855.3(DCLRE1C):c.363-5T>A	DCLRE1C	Single nucleotide variant (intron variant)	Histiocytic medullary reticulosis	GUncertain significance
Select item 989766	NM_001033855.3(DCLRE1C):c.498T>C (p.Thr166=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 989765	NM_001033855.3(DCLRE1C):c.624G>A (p.Ala208=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 989764	NM_001033855.3(DCLRE1C):c.634T>A (p.Tyr212Asn)	DCLRE1C (Y212N +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 989763	NM_001033855.3(DCLRE1C):c.756G>C (p.Gln252His)	DCLRE1C (Q132H +2 more)	Single nucleotide variant (missense variant +1 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 989762	NM_001033855.3(DCLRE1C):c.808T>C (p.Leu270=)	DCLRE1C	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely benign
Select item 989761	NM_001033855.3(DCLRE1C):c.1079G>A (p.Arg360Gln)	DCLRE1C (R240Q +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GUncertain significance
Select item 989760	NM_001033855.3(DCLRE1C):c.1165G>T (p.Asp389Tyr)	DCLRE1C (D269Y +2 more)	Single nucleotide variant (missense variant +1 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 989759	NM_001033855.3(DCLRE1C):c.1816A>C (p.Lys606Gln)	DCLRE1C (K486Q +2 more)	Single nucleotide variant (missense variant +2 more)	Histiocytic medullary reticulosis	GUncertain significance
Select item 989758	NM_001033855.3(DCLRE1C):c.1828A>G (p.Lys610Glu)	DCLRE1C (K490E +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 973665	NM_000448.3(RAG1):c.2945C>A (p.Ser982Tyr)	RAG1 (S982Y)	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 972658	NM_000536.4(RAG2):c.1390C>T (p.Arg464Cys)	RAG2 (R464C)	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 970211	NM_000536.4(RAG2):c.1138G>T (p.Asp380Tyr)	RAG2 (D380Y)	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 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 968823	NM_001033855.3(DCLRE1C):c.1627A>G (p.Ile543Val)	DCLRE1C (I543V +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GUncertain significance
Select item 968725	NM_001033855.3(DCLRE1C):c.265A>G (p.Thr89Ala)	DCLRE1C (T89A)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 968500	NM_000536.4(RAG2):c.443G>A (p.Arg148Gln)	RAG2 (R148Q)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 966558	NM_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter)	DCLRE1C (R549* +2 more)	Single nucleotide variant (nonsense +2 more)	Histiocytic medullary reticulosis +1 more	GConflicting classifications of pathogenicity
Select item 965716	NM_000536.4(RAG2):c.157A>C (p.Asn53His)	RAG2 (N53H)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 965599	NM_000536.4(RAG2):c.718C>T (p.Leu240Phe)	RAG2 (L240F)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 961035	NM_000448.3(RAG1):c.1981_1983del (p.Met661del)	RAG1 (M661del)	Deletion (inframe_deletion)	Combined immunodeficiency due to partial RAG1 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 958957	NM_001033855.3(DCLRE1C):c.1265C>A (p.Ser422Ter)	DCLRE1C (S307* +2 more)	Single nucleotide variant (nonsense +1 more)	Histiocytic medullary reticulosis +1 more	GPathogenic/Likely pathogenic
Select item 956389	NM_000536.4(RAG2):c.1414G>A (p.Gly472Arg)	RAG2 (G472R)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
Select item 955968	NM_000536.4(RAG2):c.1492A>T (p.Lys498Ter)	RAG2 (K498*)	Single nucleotide variant (nonsense)	Combined immunodeficiency with skin granulomas +2 more	GConflicting classifications of pathogenicity
Select item 950085	NM_000536.4(RAG2):c.1542G>C (p.Leu514Phe)	RAG2 (L514F)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GUncertain significance
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 945322	NM_001033855.3(DCLRE1C):c.1789del (p.Cys597fs)	DCLRE1C (C482fs +2 more)	Deletion (frameshift variant +2 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GConflicting classifications of pathogenicity
Select item 936307	NM_000448.3(RAG1):c.1088G>A (p.Cys363Tyr)	RAG1 (C363Y)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significance FDA Recognized database
Select item 880524	NM_000448.3(RAG1):c.*1539G>A	RAG1	Single nucleotide variant (3 prime UTR variant)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 880523	NM_000448.3(RAG1):c.*1515T>C	RAG1	Single nucleotide variant (3 prime UTR variant)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 880470	NM_000448.3(RAG1):c.*1074G>A	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 880425	NM_000448.3(RAG1):c.*47T>C	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 880389	NM_000448.3(RAG1):c.1786G>A (p.Val596Met)	RAG1 (V596M)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance

<< First< Prev

Page of 5