ClinVar for MedGen (Select 88328) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251901	NM_000022.4(ADA):c.466C>A (p.Arg156Ser)	ADA (R156S)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 3251834	NM_000448.3(RAG1):c.2189G>T (p.Cys730Phe)	RAG1 (C730F)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 3251745	NM_001033855.3(DCLRE1C):c.353G>T (p.Gly118Val)	DCLRE1C (G118V)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency disease	GPathogenic
Select item 3251463	NM_020458.4(TTC7A):c.2056_2059delinsTAGT (p.Glu686_Glu687delinsTer)	TTC7A	Indel (nonsense)	Severe combined immunodeficiency disease	GPathogenic
Select item 3251406	NM_001369369.1(FOXN1):c.1216_1247dup (p.Gly418fs)	FOXN1 (G418fs)	Duplication (frameshift variant)	Severe combined immunodeficiency disease	GPathogenic
Select item 3233962	NM_000215.4(JAK3):c.1442-2A>G	JAK3	Single nucleotide variant (splice acceptor variant)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 2736056	NM_206937.2(LIG4):c.833G>T (p.Arg278Leu)	LIG4 (R211L +2 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency disease +1 more	GPathogenic
Select item 2691540	NM_015599.3(PGM3):c.162del (p.Lys54fs)	PGM3 (K54fs +1 more)	Deletion (frameshift variant +2 more)	Immunodeficiency 23 +1 more	GPathogenic
Select item 2691273	NM_000732.6(CD3D):c.107del (p.Asn36fs)	CD3D (N36fs)	Deletion (frameshift variant)	Severe combined immunodeficiency disease	GPathogenic
Select item 2680695	NM_000022.4(ADA):c.845G>T (p.Arg282Leu)	ADA (R147L +2 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +1 more	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 2581273	NM_000215.4(JAK3):c.1915-11G>A	JAK3	Single nucleotide variant (intron variant)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 2577241	NM_000215.4(JAK3):c.2141C>T (p.Thr714Met)	JAK3 (T714M)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency disease +1 more	GPathogenic OUncertain significance
Select item 2506241	NM_001033855.3(DCLRE1C):c.1645C>T (p.Gln549Ter)	DCLRE1C (Q429* +2 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency disease	GPathogenic
Select item 2503871	NC_000009.11:g.(215030_271626)_(336719_339005)dup	DOCK8, DOCK8-AS1	Duplication	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 2501176	NM_005956.4(MTHFD1):c.1807G>T (p.Glu603Ter)	MTHFD1 (E603*)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 2501021	NC_000009.11:g.(407070_414781)_(434976_439244)del	DOCK8	Deletion	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 2498178	NM_001391963.1(VDAC2):c.587A>G (p.Asn196Ser)	VDAC2 (N157S +2 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency disease	GUncertain significance
Select item 2498177	NM_001017915.3(INPP5D):c.1437+2T>C	INPP5D	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency disease	GUncertain significance
Select item 2498176	NM_032590.5(KDM2B):c.3305G>C (p.Trp1102Ser)	KDM2B (W1033S +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency disease	GUncertain significance
Select item 2445918	NM_015599.3(PGM3):c.114_118del (p.Met39fs)	PGM3 (M39fs +1 more)	Microsatellite (frameshift variant +2 more)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 2445836	NM_000733.4(CD3E):c.288T>A (p.Tyr96Ter)	CD3E (Y96*)	Single nucleotide variant (nonsense)	Immunodeficiency 18 +1 more	GPathogenic/Likely pathogenic
Select item 2445731	NM_002185.5(IL7R):c.788T>A (p.Leu263Ter)	IL7R (L263*)	Single nucleotide variant (nonsense)	Immunodeficiency 104 +1 more	GPathogenic/Likely pathogenic
Select item 2429328	NC_000011.9:g.(118215194_118219741)_(118224498_?)del	CD3G	Deletion	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 2429218	NM_006282.5(STK4):c.395C>A (p.Ser132Ter)	STK4 (S132*)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 2137056	NM_000448.3(RAG1):c.2522G>A (p.Arg841Gln)	RAG1 (R841Q)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency disease +4 more	GPathogenic/Likely pathogenic
Select item 1878421	NM_005956.4(MTHFD1):c.2629C>T (p.Gln877Ter)	MTHFD1, ZBTB25 (Q877*)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1878321	NM_000215.4(JAK3):c.2759_2760del (p.Arg920fs)	JAK3 (R920fs)	Microsatellite (frameshift variant)	Severe combined immunodeficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 1878319	NC_000009.11:g.(215030_271626)_(328172_332397)dup	DOCK8, DOCK8-AS1	Duplication	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1878265	NM_001556.3(IKBKB):c.1673del (p.Gly558fs)	IKBKB (G558fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1804705	NM_005356.5(LCK):c.277C>T (p.Gln93Ter)	LCK (Q93*)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1804667	NM_000270.4(PNP):c.601G>T (p.Glu201Ter)	PNP (E201*)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 1722489	NC_000009.11:g.(?_214864)_(271730_286460)del	DOCK8, DOCK8-AS1	Deletion	Severe combined immunodeficiency disease	GPathogenic
Select item 1722416	NM_006282.5(STK4):c.831+2T>C	STK4	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1705260	NM_000073.3(CD3G):c.484-1G>A	CD3G	Single nucleotide variant (splice acceptor variant)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1704632	NC_000009.11:g.(?_214864)_(215030_271626)del	DOCK8, DOCK8-AS1	Deletion	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1703562	GRCh37/hg19 5q22.1(chr5:110567597-110693274)	CAMK4	Copy number gain	Severe combined immunodeficiency disease	GUncertain significance
Select item 1698463	NM_001033855.3(DCLRE1C):c.1265C>G (p.Ser422Ter)	DCLRE1C (S302* +2 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1696291	NM_007074.4(CORO1A):c.1278_1279insCC (p.Ser427fs)	CORO1A (S427fs)	Insertion (frameshift variant)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1696279	NM_005956.4(MTHFD1):c.2529del (p.Glu844fs)	MTHFD1, ZBTB25 (E844fs)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1696278	NM_005956.4(MTHFD1):c.1006C>T (p.Arg336Ter)	MTHFD1 (R336*)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1696177	NM_015599.3(PGM3):c.1539+2T>C	DOP1A, PGM3 (V433A)	Single nucleotide variant (non-coding transcript variant +2 more)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1696158	NM_001033855.3(DCLRE1C):c.247-1G>C	DCLRE1C	Single nucleotide variant (splice acceptor variant)	Severe combined immunodeficiency due to DCLRE1C deficiency	GUncertain significance FDA Recognized database
Select item 1696074	NM_000073.3(CD3G):c.271C>T (p.Gln91Ter)	CD3G, LOC126861358 (Q91*)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1696050	NM_203447.4(DOCK8):c.1174C>T (p.Gln392Ter)	DOCK8 (Q324* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive hyper-IgE syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1683291	NM_001556.3(IKBKB):c.2205+2T>C	IKBKB	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1677216	NM_002838.5(PTPRC):c.100+1del	PTPRC	Deletion (frameshift variant +2 more)	Severe combined immunodeficiency disease	GLikely 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 1339698	NC_000009.11:g.(?_214864)_(399260_404917)del	DOCK8, DOCK8-AS1	Deletion	Severe combined immunodeficiency disease	GPathogenic
Select item 1339681	NM_001625.4(AK2):c.499-1_499insATGAC (p.Ile167fs)	AK2 (I119fs +3 more)	Insertion (frameshift variant +2 more)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1339680	NM_001625.4(AK2):c.498_499dup (p.Ile167fs)	AK2 (I119fs +3 more)	Insertion (frameshift variant +2 more)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1331495	NM_006785.4(MALT1):c.1612_1615del (p.Lys538fs)	MALT1 (K527fs +1 more)	Deletion (frameshift variant)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1329071	NC_000009.11:g.(215030_271626)_(399260_404917)dup	DOCK8, DOCK8-AS1	Duplication	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1301340	NM_001625.4(AK2):c.600C>G (p.Tyr200Ter)	AK2 (Y152* +3 more)	Single nucleotide variant (nonsense +2 more)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1301339	NM_015599.3(PGM3):c.-2-185C>T	PGM3 (Q24*)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 23 +2 more	GPathogenic/Likely pathogenic
Select item 1212273	NM_000022.4(ADA):c.996_997del (p.Ser333fs)	ADA (S198fs +2 more)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 1074979	NM_000022.4(ADA):c.366_367del (p.Asp123fs)	ADA (D123fs)	Deletion (frameshift variant +2 more)	Severe combined immunodeficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 1027623	NM_001625.4(AK2):c.330+1G>C	AK2	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 996288	NM_020458.4(TTC7A):c.138dup (p.Asn47Ter)	MCFD2, TTC7A (N47*)	Duplication (nonsense +2 more)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 986350	NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn)	DCLRE1C (D136N +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GLikely pathogenic FDA Recognized database
Select item 984454	NM_000022.4(ADA):c.975+1G>A	ADA	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic FDA Recognized database
Select item 845678	NM_206937.2(LIG4):c.845A>T (p.His282Leu)	LIG4 (H282L +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GPathogenic
Select item 842419	NM_000022.4(ADA):c.377C>A (p.Pro126Gln)	ADA (P126Q)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency disease +1 more	GLikely pathogenic
Select item 659958	NM_001079.4(ZAP70):c.109C>G (p.Arg37Gly)	ZAP70 (R37G)	Single nucleotide variant (missense variant)	ZAP70-Related Severe Combined Immunodeficiency +1 more	GConflicting classifications of pathogenicity
Select item 636824	NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp)	RAG1 (R404W)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency disease +5 more	GPathogenic/Likely pathogenic
Select item 599352	NM_002185.5(IL7R):c.707-2A>G	IL7R	Single nucleotide variant (splice acceptor variant +1 more)	Severe combined immunodeficiency disease	GPathogenic
Select item 580586	NM_000073.3(CD3G):c.213dup (p.Trp72fs)	CD3G, LOC126861358 (W72fs)	Duplication (frameshift variant)	Combined immunodeficiency due to CD3gamma deficiency +1 more	GPathogenic/Likely pathogenic
Select item 565662	NM_002185.5(IL7R):c.437_438del (p.Phe146fs)	IL7R (F146fs)	Deletion (frameshift variant +1 more)	Immunodeficiency 104 +1 more	GPathogenic/Likely pathogenic
Select item 565486	NM_000022.4(ADA):c.311C>T (p.Pro104Leu)	ADA (P104L +1 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 555196	NM_000022.4(ADA):c.95+1G>A	ADA, LOC107303343	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency disease +1 more	GPathogenic
Select item 552928	NM_000022.4(ADA):c.424C>T (p.Arg142Ter)	ADA (R142*)	Single nucleotide variant (nonsense +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +1 more	GPathogenic
Select item 550821	NM_000022.4(ADA):c.396dup (p.Val133fs)	ADA (V133fs)	Duplication (frameshift variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic FDA Recognized database
Select item 541654	NM_000073.3(CD3G):c.213del (p.Lys71fs)	CD3G, LOC126861358 (K71fs)	Deletion (frameshift variant)	Severe combined immunodeficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 505650	NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter)	PGM3, DOP1A (R520* +3 more)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 23 +1 more	GPathogenic/Likely pathogenic
Select item 505549	NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)	ADA	Deletion (nonsense +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic FDA Recognized database
Select item 505116	NM_000270.4(PNP):c.286-18G>A	PNP	Single nucleotide variant (intron variant)	Severe combined immunodeficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 495737	NM_000215.4(JAK3):c.2683_2704del (p.Arg895fs)	JAK3 (R895fs)	Deletion (frameshift variant)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 488725	NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter)	RAG1 (R897*)	Single nucleotide variant (nonsense)	Combined immunodeficiency with skin granulomas +5 more	GPathogenic
Select item 464885	NM_002872.5(RAC2):c.184G>A (p.Glu62Lys)	RAC2 (E62K)	Single nucleotide variant (missense variant)	not provided +10 more	GPathogenic/Likely pathogenic
Select item 446306	NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe)	MTHFD1 (S49F)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 446303	NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys)	MTHFD1 (R173C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 440938	NM_000215.4(JAK3):c.1291C>T (p.Arg431Trp)	JAK3 (R431W)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 427020	NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr)	RAG2 (D65Y)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GLikely pathogenic FDA Recognized database
Select item 419227	NM_198053.3(CD247):c.301C>T (p.Gln101Ter)	CD247 (Q101* +1 more)	Single nucleotide variant (nonsense +1 more)	CD247-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 402341	NM_000022.4(ADA):c.845G>A (p.Arg282Gln)	ADA (R282Q +2 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic FDA Recognized database
Select item 376714	NM_000215.4(JAK3):c.2143G>A (p.Val715Ile)	JAK3 (V715I)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 369260	NM_000215.3(JAK3):c.1965_1966insGT	JAK3	Insertion	Severe combined immunodeficiency disease	GBenign
Select item 369259	NM_000215.3(JAK3):c.1966_1967delTT	JAK3	Deletion	Severe combined immunodeficiency disease	GBenign
Select item 368959	NM_000448.2(RAG1):c.*3331A>G	RAG1	Single nucleotide variant	Histiocytic medullary reticulosis +1 more	GLikely benign
Select item 368934	NM_000732.4(CD3D):c.-147G>C	CD3D	Single nucleotide variant	Severe combined immunodeficiency disease	GLikely benign
Select item 353299	NM_002185.5(IL7R):c.*1902del	IL7R	Deletion (3 prime UTR variant +1 more)	Severe combined immunodeficiency disease	GLikely benign
Select item 353272	NM_002185.5(IL7R):c.*334AAAG[4]	IL7R	Microsatellite (3 prime UTR variant +1 more)	Severe combined immunodeficiency disease	GLikely benign
Select item 353271	NM_002185.5(IL7R):c.*266dup	IL7R	Duplication (3 prime UTR variant +1 more)	Severe combined immunodeficiency disease	GUncertain significance
Select item 337624	NM_001079.4(ZAP70):c.-81T>G	ZAP70	Single nucleotide variant (5 prime UTR variant)	Severe combined immunodeficiency disease	GUncertain significance
Select item 328521	NM_000215.4(JAK3):c.190C>T (p.Leu64=)	JAK3	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency disease	GUncertain significance
Select item 328510	NM_000215.4(JAK3):c.1787-11dup	JAK3	Duplication (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency +2 more	GBenign
Select item 328493	NM_000215.4(JAK3):c.*222CT[1]	JAK3	Microsatellite (3 prime UTR variant)	Severe combined immunodeficiency disease +1 more	GBenign
Select item 328489	NM_000215.4(JAK3):c.*340dup	JAK3	Duplication (3 prime UTR variant)	Severe combined immunodeficiency disease	GUncertain significance
Select item 328482	NM_000215.4(JAK3):c.841_842dup	JAK3	Duplication (3 prime UTR variant)	Severe combined immunodeficiency disease +1 more	GUncertain significance
Select item 328470	NM_000215.4(JAK3):c.*1353dup	JAK3	Duplication (3 prime UTR variant)	Severe combined immunodeficiency disease	GUncertain significance

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