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Items: 50

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
ADASCID due to ADA deficiency, delayed onsetPathogenic
(Feb 1, 2002)
no assertion criteria provided
2.
ADASevere combined immunodeficiency due to ADA deficiencyPathogenic
(Jul 1, 1996)
no assertion criteria provided
3.
ADASevere combined immunodeficiency due to ADA deficiencyPathogenic
(May 1, 1994)
no assertion criteria provided
4.
ADASCID due to ADA deficiency, delayed onsetPathogenic
(Nov 1, 1993)
no assertion criteria provided
5.
ADASevere combined immunodeficiency due to ADA deficiencyPathogenic
(Dec 1, 1997)
no assertion criteria provided
6.
GRCh37:
Chr20:43251293-43251296
ADASevere combined immunodeficiency due to ADA deficiencyPathogenic
(May 1, 1994)
no assertion criteria provided
7.
GRCh37:
Chr20:43248503
GRCh38:
Chr20:44619862
ADASCID due to ADA deficiency, delayed onsetPathogenic
(Feb 1, 2002)
no assertion criteria provided
8.
GRCh37:
Chr20:43249032
Chr20:43251469
GRCh38:
Chr20:44620391
Chr20:44622828
ADASevere combined immunodeficiency due to ADA deficiencyGO-ESP:0.00023(A)Likely pathogenic
(May 21, 2013)
criteria provided, single submitter
9.
GRCh37:
Chr20:43249032
GRCh38:
Chr20:44620391
ADASevere combined immunodeficiency due to ADA deficiencyGO-ESP:0.00023(A)Pathogenic
(Jan 15, 1992)
no assertion criteria provided
10.
GRCh37:
Chr20:43249674-43249678
GRCh38:
Chr20:44621033-44621037
ADASevere combined immunodeficiency due to ADA deficiencyPathogenic
(Sep 24, 2014)
criteria provided, single submitter
11.
GRCh37:
Chr20:43249723
GRCh38:
Chr20:44621082
ADASevere combined immunodeficiency due to ADA deficiencyPathogenic
(Jan 1, 1986)
no assertion criteria provided
12.
GRCh37:
Chr20:43249744
GRCh38:
Chr20:44621103
ADASevere combined immunodeficiency due to ADA deficiency, Partial adenosine deaminase deficiencyPathogenic
(Feb 1, 1989)
no assertion criteria provided
13.
GRCh37:
Chr20:43249762
GRCh38:
Chr20:44621121
ADASevere combined immunodeficiency diseaseLikely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
14.
GRCh37:
Chr20:43249762
GRCh38:
Chr20:44621121
ADASevere combined immunodeficiency due to ADA deficiencyPathogenic
(Jan 1, 1992)
no assertion criteria provided
15.
GRCh37:
Chr20:43251253
GRCh38:
Chr20:44622612
ADASevere combined immunodeficiency due to ADA deficiency, Partial adenosine deaminase deficiencyGMAF:0.00020(A)Pathogenic
(Aug 1, 1990)
no assertion criteria provided
16.
GRCh37:
Chr20:43251552
GRCh38:
Chr20:44622911
ADASevere combined immunodeficiency due to ADA deficiency, Partial adenosine deaminase deficiencyPathogenic
(Jul 1, 1997)
no assertion criteria provided
17.
GRCh37:
Chr20:43251680
GRCh38:
Chr20:44623039
ADASevere combined immunodeficiency due to ADA deficiencyPathogenic
(Oct 1, 1991)
no assertion criteria provided
18.
GRCh37:
Chr20:43251683
GRCh38:
Chr20:44623042
ADASevere combined immunodeficiency due to ADA deficiency, Partial adenosine deaminase deficiencyGO-ESP:0.00031(T)
GMAF:0.00020(T)
Pathogenic
(Aug 1, 1990)
no assertion criteria provided
19.
GRCh37:
Chr20:43251694
GRCh38:
Chr20:44623053
ADASevere combined immunodeficiency due to ADA deficiencyGO-ESP:0.00015(T)Pathogenic
(Jan 1, 1998)
no assertion criteria provided
20.
GRCh37:
Chr20:43251695
GRCh38:
Chr20:44623054
ADASevere combined immunodeficiency due to ADA deficiency, Partial adenosine deaminase deficiencyPathogenic
(Sep 1, 1994)
no assertion criteria provided
21.
GRCh37:
Chr20:43252853
GRCh38:
Chr20:44624212
ADASevere combined immunodeficiency due to ADA deficiencynot providedno assertion provided
22.
GRCh37:
Chr20:43252913
GRCh38:
Chr20:44624272
ADASevere combined immunodeficiency due to ADA deficiencynot providedno assertion provided
23.
GRCh37:
Chr20:43252920
GRCh38:
Chr20:44624279
ADASevere combined immunodeficiency due to ADA deficiencynot providedno assertion provided
24.
GRCh37:
Chr20:43254221
GRCh38:
Chr20:44625580
ADASevere combined immunodeficiency due to ADA deficiency, SCID due to ADA deficiency, delayed onsetPathogenic
(Jul 1, 1996)
no assertion criteria provided
25.
GRCh37:
Chr20:43254222
GRCh38:
Chr20:44625581
ADASevere combined immunodeficiency due to ADA deficiencyGMAF:0.00020(A)Pathogenic
(Jan 1, 1992)
no assertion criteria provided
26.
GRCh37:
Chr20:43254234
GRCh38:
Chr20:44625593
ADASevere combined immunodeficiency due to ADA deficiency, Partial adenosine deaminase deficiencyPathogenic
(Jul 1, 1997)
no assertion criteria provided
27.
GRCh37:
Chr20:43254242
GRCh38:
Chr20:44625601
ADASevere combined immunodeficiency due to ADA deficiency, Partial adenosine deaminase deficiencyPathogenic
(Aug 1, 1990)
no assertion criteria provided
28.
GRCh37:
Chr20:43254243
GRCh38:
Chr20:44625602
ADASevere combined immunodeficiency due to ADA deficiencynot providedno assertion provided
29.
GRCh37:
Chr20:43254263
GRCh38:
Chr20:44625622
ADASevere combined immunodeficiency due to ADA deficiencyGO-ESP:0.00354(T)
GMAF:0.00500(T)
not providedno assertion provided
30.
GRCh37:
Chr20:43254269
GRCh38:
Chr20:44625628
ADASevere combined immunodeficiency due to ADA deficiencynot providedno assertion provided
31.
GRCh37:
Chr20:43254298
GRCh38:
Chr20:44625657
ADASevere combined immunodeficiency disease, not providedGO-ESP:0.04228(T)
GMAF:0.03060(T)
Benign
(Jan 18, 2013)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr20:43254303
GRCh38:
Chr20:44625662
ADASevere combined immunodeficiency due to ADA deficiencynot providedno assertion provided
33.
GRCh37:
Chr20:43255139
GRCh38:
Chr20:44626498
ADASevere combined immunodeficiency due to ADA deficiencyPathogenic
(Aug 1, 1990)
no assertion criteria provided
34.
GRCh37:
Chr20:43255157
GRCh38:
Chr20:44626516
ADASevere combined immunodeficiency due to ADA deficiencynot providedno assertion provided
35.
GRCh37:
Chr20:43255157
GRCh38:
Chr20:44626516
ADASevere combined immunodeficiency due to ADA deficiencyPathogenic
(Aug 1, 1985)
no assertion criteria provided
36.
GRCh37:
Chr20:43255158
GRCh38:
Chr20:44626517
ADASevere combined immunodeficiency due to ADA deficiencyPathogenic
(Aug 1, 1990)
no assertion criteria provided
37.
GRCh37:
Chr20:43255169
Chr20:43255143
GRCh38:
Chr20:44626528
Chr20:44626502
ADASevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiencyPathogenic
(Dec 1, 1997)
no assertion criteria provided
38.
GRCh37:
Chr20:43255211
GRCh38:
Chr20:44626570
ADASevere combined immunodeficiency due to ADA deficiencyGO-ESP:0.00008(T)not providedno assertion provided
39.
GRCh37:
Chr20:43255220
GRCh38:
Chr20:44626579
ADASevere combined immunodeficiency due to ADA deficiencyGO-ESP:0.06505(C)
GMAF:0.05270(C)
Uncertain significance
(Jan 12, 2011)
no assertion criteria provided
40.
GRCh37:
Chr20:43255233
GRCh38:
Chr20:44626592
ADASevere combined immunodeficiency due to ADA deficiency, Partial adenosine deaminase deficiencyGO-ESP:0.00062(A)
GMAF:0.00180(A)
Pathogenic
(Aug 1, 1990)
no assertion criteria provided
41.
GRCh37:
Chr20:43255238
GRCh38:
Chr20:44626597
ADASevere combined immunodeficiency due to ADA deficiencyPathogenic
(May 23, 1996)
no assertion criteria provided
42.
GRCh37:
Chr20:43255239
GRCh38:
Chr20:44626598
ADASevere combined immunodeficiency due to ADA deficiencynot providedno assertion provided
43.
GRCh37:
Chr20:43255242
GRCh38:
Chr20:44626601
ADASevere combined immunodeficiency due to ADA deficiencyPathogenic
(Nov 5, 1988)
no assertion criteria provided
44.
GRCh37:
Chr20:43264905
GRCh38:
Chr20:44636264
ADASevere combined immunodeficiency due to ADA deficiencynot providedno assertion provided
45.
GRCh37:
Chr20:43264920
GRCh38:
Chr20:44636279
ADASevere combined immunodeficiency due to ADA deficiencynot providedno assertion provided
46.
GRCh37:
Chr20:43264927
GRCh38:
Chr20:44636286
ADASevere combined immunodeficiency diseaseGMAF:0.01780(C)Benign
(Aug 18, 2011)
criteria provided, single submitter
47.
GRCh37:
Chr20:43280215
GRCh38:
Chr20:44651574
ADASevere combined immunodeficiency due to ADA deficiencyPathogenic
(Jan 1, 1994)
no assertion criteria provided
48.
GRCh37:
Chr20:43280227
GRCh38:
Chr20:44651586
ADAAdenosine deaminase 2 allozymeGO-ESP:0.03080(T)
GMAF:0.05130(T)
Pathogenic
(Mar 1, 2001)
no assertion criteria provided
49.
GRCh37:
Chr20:33825749-46260562
GRCh38:
Chr20:35237946-47631818
See casesPathogenic
(Dec 17, 2012)
no assertion criteria provided
50.
GRCh37:
Chr20:80198-62908674
GRCh38:
Chr20:99557-64277321
ADA, ADRA1D, JAG1, AHCY, ASIP, ATP5E, AVP, BCL2L1, BFSP1, BMP2, BMP7, BPI, ENTPD6, CD40, CDC25B, CDH4, CEBPB, CENPB, CHGB, CHRNA4, COL9A3, CSE1L, CSNK2A1, CST1, CST2, CST3, CST4, CST5, CSTF1, CTSZ, CYP24A1, DNMT3B, E2F1, EDN3, EEF1A2, EPB41L1, EYA2, FKBP1A, FOXS1, GGT7, GHRH, GNAS, GNRH2, NPBWR2, GSS, HCK, FOXA2, HNF4A, ID1, IDH3B, INSM1, EIF6, ITPA, KCNB1, KCNG1, KCNQ2, KCNS1, LAMA5, LBP, MC3R, MMP9, MYBL2, MYT1, NFATC2, NKX2-2, NNAT, NTSR1, OPRL1, OXT, PAX1, PCK1, PCNA, PCSK2, PDYN, PFDN4, PI3, PLAGL2, PLCB4, PLCG1, PLTP, CTSA, PPP1R3D, PRNP, PSMA7, PTGIS, PTK6, PTPN1, PTPRA, PYGB, RBL1, RPN2, RPS21, RRBP1, SDC4, SEMG1, SEMG2, SRSF6, SLPI, SIGLEC1, SNAI1, SNAP25, SNRPB, SNRPB2, SNTA1, SOX12, SPAG4, SRC, SRMS, SSTR4, STAU1, STK4, AURKA, TAF4, TCEA2, TCF15, TFAP2C, TGM2, TGM3, THBD, TNNC2, TOP1, TPD52L2, UBE2V1, YWHAB, ZNF133, ZNF217, MKKS, GDF5, NCOA3, ATRN, RAE1, CST7, BCAS1, STX16, CDS2, TNFRSF6B, MATN4, DPM1, WISP2, EIF2S2, CPNE1, NFS1, CBFA2T2, VAPB, B4GALT5, KIF3B, PSMF1, RBM39, TTI1, SNPH, LZTS3, RASSF2, TM9SF4, SPATA2, GINS1, OSBPL2, MAFB, SLC23A2, ACOT8, CST8, ATP9A, SGK2, RBM12, ARFRP1, RGS19, SIRPB1, SYCP2, MYL9, WFDC2, SEC23B, NOP56, PROCR, ARFGEF2, RBCK1, POLR3F, TCFL5, RBBP9, SPINT3, MMP24, BLCAP, TOMM34, SERINC3, DSTN, ADRM1, OGFR, UBE2C, DIDO1, PTPRT, PKIG, CEP250, RNF24, HRH3, PXMP4, RBPJL, XRN2, DLGAP4, UBOX5, BTBD3, RALY, CD93, MAPRE1, TPX2, NINL, ZHX3, NCOA6, PLCB1, SLC9A8, ADNP, POFUT1, ZMYND8, SPO11, PRND, FLRT3, LAMP5, PRPF6, SPEF1, SAMHD1, C20orf194, AAR2, L3MBTL1, SS18L1, PPP1R16B, CFAP61, ABHD12, TRPC4AP, ZNF337, MTG2, GMEB2, SNORD12C, RNU105B, SNORA71B, SNORA71A, SNORD57, SNORD56, SDCBP2, SNX5, TP53TG5, MOCS3, SLCO4A1, REM1, TMEM230, LINC00652, NXT1, VSX1, STMN3, SLC35C2, PRELID3B, IFT52, NAA20, PHF20, SCAND1, BPIFA1, CRNKL1, ANGPT4, NELFCD, RTFDC1, OSER1, ESF1, PIGT, TRMT6, ERGIC3, CDK5RAP1, RTEL1, SOX18, HAO1, RIN2, SMOX, CRLS1, YTHDF1, LIME1, UCKL1, C20orf27, GID8, DZANK1, UQCC1, PCMTD2, MRGBP, SPTLC3, AP5S1, TMEM74B, SIRPG, RBM38, FERMT1, KIF16B, TASP1, BCAS4, DDX27, ZNF334, ZFP64, ARFGAP1, EDEM2, DOK5, KIZ, DBNDD2, ACSS2, RNF114, SULF2, NSFL1C, C20orf24, TMX4, CTNNBL1, GPCPD1, CPXM1, SLC2A4RG, OTOR, PMEPA1, CASS4, EPPIN, APMAP, PAK7, RALGAPB, JPH2, SALL4, ZNFX1, RALGAPA2, CSRP2BP, RAB22A, SLC24A3, NDRG3, SLC12A5, ZNF512B, MAVS, PREX1, EBF4, COL20A1, MYH7B, NCOA5, TRIB3, TP53INP2, RPRD1B, OVOL2, TGIF2, CDH26, FASTKD5, KCNK15, DHX35, MANBAL, NAPB, SLC17A9, ELMO2, ZNF335, ANKEF1, LOC63930, PCIF1, FAM217B, NECAB3, GFRA4, CDH22, GZF1, VPS16, PCED1A, SLC13A3, LPIN3, MRPS26, DDRGK1, GDAP1L1, LINC01260, C20orf195, NDUFAF5, PPDPF, LOC79160, ZNF343, TTPAL, BIRC7, NPEPL1, ACTR5, SYNDIG1, DSN1, NRSN2, PANK2, DNAJC5, ADAM33, PABPC1L, BPIFB2, SEL1L2, TUBB1, ZBP1, SLC2A10, HM13, PDRG1, FAM83D, DEFB126, CABLES2, FAM110A, DYNLRB1, ITCH, C20orf57, SLC4A11, SLA2, CHD6, MCM8, ACSS1, MAP1LC3A, PARD6B, ZGPAT, COX4I2, ZNF341, TOX2, ZCCHC3, MYLK2, HELZ2, KIAA1755, SCRT2, EMILIN3, SYS1, WFDC8, SNX21, ZSWIM1, GGTLC1, MGME1, DTD1, BPIFB1, TP53RK, SLC52A3, DNTTIP1, FAM210B, PHACTR3, HSPA12B, DEFB118, TMC2, BHLHE23, NKAIN4, VSTM2L, SNHG11, FITM2, WFDC12, SPATA25, OCSTAMP, TSHZ2, C20orf85, ZNF831, TBC1D20, SIRPD, C20orf141, PROKR2, SLX4IP, CSTL1, CST9L, CST9, MIR1-1HG, DUSP15, BPIFB6, BPIFA3, C20orf144, CHMP4B, PIGU, FAM83C, GATA5, SLC32A1, C20orf96, BPIFA2, ZBTB46, WFDC3, GCNT7, NOL4L, CBLN4, CTCFL, MROH8, SAMD10, ABHD16B, CCM2L, SOGA1, TLDC2, RIMS4, ANKRD60, SUN5, MACROD2, SRXN1, ROMO1, NEURL2, LINC00261, ZSWIM3, WFDC10A, LINC01620, BANF2, NANP, FAM83C-AS1, MACROD2-IT1, DEFB127, SCP2D1, ISM1, WFDC6, C20orf173, LINC00028, FAM65C, CST11, DEFB129, SIRPA, RBBP8NL, CNBD2, STK35, R3HDML, LOC149684, ADIG, GTSF1L, WFDC5, APCDD1L-AS1, GNAS-AS1, PRNT, LINC00654, C20orf196, LOC149950, COMMD7, BPIFB4, LSM14B, WFDC13, APCDD1L, LRRN4, TTLL9, ACTL10, ASXL1, LKAAEAR1, FAM209A, LINC00656, DEFB115, DEFB116, DEFB119, DEFB121, DEFB122, DEFB123, DEFB124, DEFB128, C20orf166-AS1, WFDC11, WFDC9, WFDC10B, LINC00176, LINC00494, LINC01270, C20orf197, MIR646HG, SIRPB2, LOC284788, LOC284798, FAM182A, MIR663AHG, C20orf203, BPIFA4P, LOC339568, LOC339593, ARHGAP40, RSPO4, TGM6, XKR7, BPIFB3, TMEM189, TMEM189-UBE2V1, LOC388780, LINC00493, EFCAB8, SNHG17, FAM209B, SPINT4, DEFB132, C20orf202, FLJ33581, LINC01597, MIR103A2, MIR1-1, MIR124-3, MIR133A2, MIR296, LINC00851, ZFAS1, GDF5OS, MIR499A, LOC613266, RAD21L1, LOC643406, NKX2-4, NORAD, SNORA71E, SNORA51, SNORA60, SNORA71C, SNORA71D, SNORD12, SNORD17, SNORD86, SNORD110, MIR644A, MIR645, MIR646, MIR647, MIR663A, LOC727993, LINC01433, C20orf187, LINC00687, FAM182B, LOC729296, SYS1-DBNDD2, HAR1A, HAR1B, SNORD119, UCKL1-AS1, SNORD12B, MIR298, MIR941-1, MIR941-4, MIR941-2, MIR941-3, SLCO4A1-AS1, LOC100128028, C20orf78, LOC100128988, C20orf181, LOC100130264, LOC100130587, ZNF840P, SNAP25-AS1, LOC100131496, DPH3P1, UBOX5-AS1, LOC100134868, LINC00029, LINC01056, FLJ16779, LINC01432, LOC100270804, LOC100287792, TMEM239, LOC100289097, MIR1289-1, MIR1914, MIR1292, MIR1302-5, MIR1257, MIR1825, MIR103B2, PCNA-AS1, PET117, MACROD2-AS1, MIR3195, MIR3192, MIR4325, MIR3194, MIR3193, MIR4326, MIR3196, MTRNR2L3, MIR3646, MIR3616, MIR3617, LOC100505515, ISM1-AS1, LINC01370, LINC01431, LOC100505771, OSER1-AS1, STK4-AS1, LINC01272, LOC100506175, LOC100506384, LOC100506470, NRSN2-AS1, SDCBP2-AS1, LINC00658, EPPIN-WFDC6, TGIF2-C20orf24, FKBP1A-SDCBP2, RTEL1-TNFRSF6B, SLMO2-ATP5E, STX16-NPEPL1, MIR499B, MIR548O2, MIR4756, MIR4758, MIR4532, MIR4533, MIR4755, MIR548AG2, LINC00659, LINC00489, HM13-AS1, TRERNA1, LINC01523, OGFR-AS1, MMP24-AS1, RALY-AS1, LOC101926889, LOC101926935, LOC101926955, DLGAP4-AS1, PLCG1-AS1, LOC101927159, HNF4A-AS1, LINC01430, LOC101927377, LINC01522, LINC01273, CEBPB-AS1, LINC01271, ADNP-AS1, LINC01429, LINC01524, LOC101927770, LINC01441, LOC101927932, LOC101928048, LAMA5-AS1, ZBTB46-AS1, SIRPG-AS1, LOC101929125, LOC101929207, MCM8-AS1, CASC20, LINC01428, LOC101929288, LOC101929312, LAMP5-AS1, LOC101929371, LOC101929395, LOC101929413, LOC101929486, LOC101929526, KIZ-AS1, LOC101929608, LOC101929625, LINC01427, LINC01384, LOC101929698, ZNF341-AS1, MIR6812, MIR6869, MIR6870, MIR8062, MIR6813, MIR6871, LOC102606466, CSE1L-AS1, LINC01440, BMP7-AS1, ZNF337-AS1, MIR941-5, LOC105369209, LOC105372582, LOC105372626, LOC105372653, LOC105372672, LOC105372695, LOC105379477, LINC01598, NKILA
See casesPathogenic
(Oct 19, 2010)
no assertion criteria provided
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