ClinVar Miner

Variants studied for T-cell immunodeficiency

Included ClinVar conditions (5):
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
59 5 351 264 34 3 710

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TBX1 26 5 347 264 34 3 673
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RIMBP3B, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP18, USP41, ZDHHC8, ZNF74 6 0 0 0 0 0 6
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 5 0 0 0 0 0 5
C22orf39, CDC45, CLDN5, CLTCL1, DGCR2, ESS2, GP1BB, GSC2, HIRA, MRPL40, PRODH, SEPTIN5, SLC25A1, TBX1, TSSK2, UFD1 3 0 2 0 0 0 5
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RIMBP3B, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 3 0 0 0 0 0 3
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 2 0 0 0 0 0 2
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 2 0 0 0 0 0 2
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SNAP29, TANGO2, TBX1, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 1 0 0 0 2
FOXN1 2 0 0 0 0 0 2
LOC110120888, TBX1 2 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 1
AIFM3, ARVCF, BCR, C22orf39, CCDC116, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC2, GGTLC3, GNAZ, GNB1L, GP1BB, GSC2, HIC2, HIRA, IGLC1, IGLL5, KLHL22, LZTR1, MAPK1, MED15, MICAL3, MIR130B, MRPL40, P2RX6, PEX26, PI4KA, PPIL2, PPM1F, PRAME, PRODH, RAB36, RANBP1, RIMBP3, RIMBP3B, RIMBP3C, RSPH14, RTL10, RTN4R, SCARF2, SDF2L1, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TMEM191C, TOP3B, TRMT2A, TSSK2, TUBA8, TXNRD2, UBE2L3, UFD1, USP18, USP41, VPREB1, YDJC, YPEL1, ZDHHC8, ZNF280A, ZNF280B, ZNF74 1 0 0 0 0 0 1
AIFM3, ARVCF, C22orf39, CCDC188, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR11, DGCR2, DGCR5, DGCR6L, DGCR8, ESS2, FAM230G, FAM246C, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LINC00895, LINC00896, LINC01311, LINC01637, LINC02891, LOC108510655, LOC110120888, LOC110121413, LOC112694764, LOC112694766, LOC112694767, LOC114004361, LOC116309126, LOC116309127, LOC121627929, LOC121627930, LOC121627931, LOC125424386, LOC125424387, LOC125424388, LOC126863097, LOC126863098, LOC129391263, LOC129391264, LOC129391265, LOC129391266, LOC130066949, LOC130066950, LOC130066951, LOC130066952, LOC130066953, LOC130066954, LOC130066955, LOC130066956, LOC130066957, LOC130066958, LOC130066959, LOC130066960, LOC130066961, LOC130066962, LOC130066963, LOC130066964, LOC130066965, LOC130066966, LOC130066967, LOC130066968, LOC130066969, LOC130066970, LOC130066971, LOC130066972, LOC130066973, LOC130066974, LOC130066975, LOC130066976, LOC130066977, LOC130066978, LOC130066979, LOC130066980, LOC130066981, LOC130066982, LOC130066983, LOC130066984, LOC130066985, LOC130066986, LOC130066987, LOC130066988, LOC130066989, LOC130066990, LOC130066991, LOC130066992, LOC130066993, LOC130066994, LOC130066995, LOC130066996, LOC130066997, LOC130066998, LOC130066999, LOC130067000, LOC130067001, LOC130067002, LOC130067003, LOC130067004, LOC130067005, LOC130067006, LOC130067007, LOC130067008, LOC130067009, LOC130067010, LOC130067011, LOC130067012, LOC130067013, LOC130067014, LOC130067015, LOC130067016, LOC130067017, LOC130067018, LOC130067019, LOC130067020, LOC132090627, LOC132090628, LOC132090629, LOC132090630, LOC132090631, LOC132090632, LOC132090633, LOC132090634, LOC132090635, LOC132090636, LOC132090637, LOC132090638, LOC132090918, LOC132090919, LOC132090920, LRRC74B, LZTR1, MED15, MIR1286, MIR1306, MIR185, MIR3618, MIR4761, MIR649, MIR6816, MRPL40, P2RX6, PI4KA, RANBP1, RTL10, RTN4R, SCARF2, SEPT5-GP1BB, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, SNORA77B, TANGO2, TBX1, THAP7, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, GNB1L, GP1BB, GSC2, HIRA, MRPL40, PRODH, RANBP1, RTL10, RTN4R, SEPTIN5, SLC25A1, TANGO2, TBX1, TRMT2A, TSSK2, TXNRD2, UFD1, ZDHHC8 1 0 0 0 0 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6L, DGCR8, ESS2, GNB1L, GP1BB, GSC2, HIRA, MRPL40, PRODH, RANBP1, RTL10, RTN4R, SEPTIN5, SLC25A1, TANGO2, TBX1, TRMT2A, TSSK2, TXNRD2, UFD1, ZDHHC8 1 0 0 0 0 0 1
ARVCF, COMT, GNB1L, GP1BB, LOC110120888, LOC112694764, LOC112694766, LOC121627929, LOC126863098, LOC130066959, LOC130066960, LOC130066961, LOC130066962, LOC130066963, LOC130066964, MIR4761, RTL10, SEPT5-GP1BB, SEPTIN5, TBX1, TXNRD2 1 0 0 0 0 0 1
C22orf39, CDC45, CLDN5, CLTCL1, GP1BB, HIRA, MRPL40, SEPTIN5, SLC25A1, TBX1, UFD1 1 0 0 0 0 0 1
FBXL7 0 0 1 0 0 0 1
HNF1A 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 30 2 342 264 34 0 672
Baylor Genetics 7 1 1 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 0 7 2 0 0 9
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 7 0 0 0 0 0 7
Shanghai First Maternity and Infant Hospital, Tongji University 5 0 0 0 0 0 5
OMIM 3 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 3 0 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Mendelics 0 0 1 0 1 0 2
New York Genome Center 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 1 0 0 1
Cytogenetics, Genetics Associates, Inc. 0 0 1 0 0 0 1

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