ClinVar Miner

Variants from Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud

Location: Argentina  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 risk factor total
36 8 14 1 0 2 61

Gene and significance breakdown #

Total genes and gene combinations: 54
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign risk factor total
​intergenic 0 0 4 0 0 4
PTPN11 3 0 0 0 0 3
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 2 0 0 0 0 2
DOCK8 0 0 2 0 0 2
ABCB11, B3GALT1, BAZ2B, BBS5, CD302, CERS6, CFAP210, COBLL1, CSRNP3, CYBRD1, DCAF17, DHRS9, DLX1, DLX2, DPP4, DYNC1I2, ERICH2, FAP, FASTKD1, FIGN, G6PC2, GAD1, GALNT3, GCA, GCG, GORASP2, GRB14, HAT1, IFIH1, ITGA6, ITGB6, KCNH7, KLHL23, KLHL41, LRP2, LY75, LY75-CD302, MAP3K20, MARCHF7, METAP1D, METTL5, METTL8, MYO3B, NOSTRIN, PDK1, PHOSPHO2, PLA2R1, PPIG, PSMD14, RAPGEF4, RBMS1, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SLC25A12, SLC38A11, SLC4A10, SP5, SPC25, SSB, STK39, TANK, TBR1, TLK1, TTC21B, UBR3, XIRP2 1 0 0 0 0 1
ABCB8, ABCF2, ACTR3B, ACTR3C, AGAP3, AOC1, ASB10, ASIC3, ATG9B, ATP6V0E2, C7orf33, CDK5, CHPF2, CNPY1, CNTNAP2, CRYGN, CUL1, DNAJB6, DYNC2I1, EN2, ESYT2, EZH2, FASTK, GALNT11, GALNTL5, GBX1, GIMAP1, GIMAP2, GIMAP4, GIMAP5, GIMAP6, GIMAP7, GIMAP8, HTR5A, INSIG1, KCNH2, KMT2C, KRBA1, LMBR1, LOC100134040, LRRC61, MIR671, MNX1, NCAPG2, NOM1, NOS3, NUB1, PAXIP1, PDIA4, PRKAG2, PTPRN2, RARRES2, RBM33, REPIN1, RHEB, RNF32, RNY1, RNY3, RNY4, RNY5, SHH, SLC4A2, SMARCD3, TMEM176A, TMEM176B, TMUB1, UBE3C, VIPR2, WDR86, XRCC2, ZBED6CL, ZNF212, ZNF282, ZNF398, ZNF425, ZNF467, ZNF746, ZNF775, ZNF777, ZNF783, ZNF786, ZNF862 1 0 0 0 0 1
ABCB8, ABCF2, ACTR3B, ACTR3C, AGAP3, AOC1, ASB10, ASIC3, ATG9B, ATP6V0E2, CDK5, CHPF2, CNPY1, CRYGN, DNAJB6, DYNC2I1, EN2, ESYT2, FASTK, GALNT11, GALNTL5, GBX1, GIMAP1, GIMAP2, GIMAP4, GIMAP5, GIMAP6, GIMAP7, GIMAP8, HTR5A, INSIG1, KCNH2, KMT2C, KRBA1, LMBR1, LOC100134040, LRRC61, MIR671, MNX1, NCAPG2, NOM1, NOS3, NUB1, PAXIP1, PRKAG2, PTPRN2, RARRES2, RBM33, REPIN1, RHEB, RNF32, SHH, SLC4A2, SMARCD3, TMEM176A, TMEM176B, TMUB1, UBE3C, VIPR2, WDR86, XRCC2, ZBED6CL, ZNF467, ZNF746, ZNF775, ZNF777, ZNF862 1 0 0 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MYH11, NDE1, NOMO3, XYLT1 0 1 0 0 0 1
ABCC1, BMERB1, CEP20, MARF1, MYH11, NDE1 1 0 0 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, RFC2, STX1A, TBL2, TMEM270, VPS37D 1 0 0 0 0 1
ABHD4, ACIN1, AJUBA, BCL2L2, BCL2L2-PABPN1, C14orf119, C14orf93, CDH24, CEBPE, CHD8, CMTM5, DAD1, EFS, HAUS4, HNRNPC, HOMEZ, IL25, LRP10, METTL3, MIR208A, MIR208B, MMP14, MRPL52, MYH6, MYH7, NGDN, OR10G2, OR10G3, OR4E2, OXA1L, PABPN1, PPP1R3E, PRMT5, PSMB11, PSMB5, RAB2B, RBM23, REM2, RNF212B, RPGRIP1, SALL2, SLC22A17, SLC7A7, SLC7A8, SUPT16H, THTPA, TOX4, TRA, ZFHX2 0 1 0 0 0 1
ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CAMTA1, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CHD5, CPTP, DFFB, DNAJC11, DVL1, ESPN, FAAP20, FNDC10, GABRD, GNB1, GPR153, HES2, HES3, HES4, HES5, ICMT, INTS11, ISG15, KCNAB2, KLHL17, KLHL21, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, NOL9, NPHP4, PANK4, PER3, PEX10, PHF13, PLCH2, PLEKHG5, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF207, RNF223, RPL22, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R1, TAS1R3, THAP3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF25, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, UTS2, VAMP3, VWA1, WRAP73, ZBTB48 1 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, NBPF11, NBPF12, PRKAB2 1 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, PRKAB2 1 0 0 0 0 1
ACTC1, AQR, AVEN, CDIN1, CHRM5, DPH6, EMC4, EMC7, FAM98B, FSIP1, GJD2, GOLGA8A, GOLGA8B, KATNBL1, LINC02694, LINC02915, LPCAT4, MEIS2, NOP10, NUTM1, PGBD4, RASGRP1, RYR3, SLC12A6, SPRED1, THBS1, TMCO5A, ZNF770 1 0 0 0 0 1
ACTRT2, ARHGEF16, CALML6, CFAP74, FAAP20, GABRD, GNB1, HES5, MEGF6, MMEL1, MORN1, PANK4, PEX10, PLCH2, PRDM16, PRKCZ, PRXL2B, RER1, SKI, TMEM52, TNFRSF14, TTC34 1 0 0 0 0 1
ADAM28, ADAM7, ADAMDEC1, ATP6V1B2, BIN3, BMP1, BNIP3L, C8orf58, CCAR2, CDCA2, CHMP7, DMTN, DOCK5, DOK2, DPYSL2, EBF2, EGR3, ENTPD4, FGF17, FHIP2B, GFRA2, GNRH1, HR, KCTD9, LGI3, LOXL2, LPL, LZTS1, MIR320A, NEFL, NEFM, NKX2-6, NKX3-1, NPM2, NUDT18, PDLIM2, PEBP4, PHYHIP, PIWIL2, PNMA2, POLR3D, PPP2R2A, PPP3CC, R3HCC1, REEP4, RHOBTB2, SFTPC, SLC18A1, SLC25A37, SLC39A14, SORBS3, STC1, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, XPO7 1 0 0 0 0 1
ADAMTSL3, AP3B2, BNC1, BTBD1, C15orf40, CPEB1, FSD2, HOMER2, RAMAC, SCARNA15, SH3GL3, TM6SF1, WHAMM 1 0 0 0 0 1
ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, MIR193A, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, UTP6 1 0 0 0 0 1
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 1 0 0 0 0 1
ALDOB, ALG2, ANKS6, ANP32B, AOPEP, ASPN, AUH, BAAT, BARX1, BICD2, CARD19, CAVIN4, CCDC180, CDC14B, CENPP, COL15A1, CORO2A, CTSV, CYLC2, ECM2, ERCC6L2, ERP44, FAM120A, FAM120AOS, FANCC, FBP1, FBP2, FGD3, FOXE1, GABBR2, GALNT12, GRIN3A, HABP4, HEMGN, HSD17B3, IARS1, INVS, IPPK, MFSD14B, MIR23B, MIR24-1, MIR27B, MIRLET7A1, MIRLET7D, MIRLET7F1, MRPL50, MSANTD3, MSANTD3-TMEFF1, NANS, NCBP1, NFIL3, NINJ1, NOL8, NR4A3, NUTM2F, NUTM2G, OGN, OMD, PGAP4, PHF2, PPP3R2, PRSS47, PRXL2C, PTCH1, PTPDC1, RNF20, ROR2, SEC61B, SLC35D2, SPTLC1, STX17, SUSD3, TBC1D2, TDRD7, TEX10, TGFBR1, TMEFF1, TMOD1, TRIM14, TRMO, TSTD2, WNK2, XPA, ZNF169, ZNF189, ZNF367, ZNF484, ZNF510, ZNF782 1 0 0 0 0 1
ALS2CL, ARIH2, ARIH2OS, ATRIP, CAMP, CCDC12, CCDC51, CCR1, CCR2, CCR3, CCR5, CCR9, CCRL2, CDC25A, CDCP1, CELSR3, CLEC3B, COL7A1, CSPG5, CXCR6, DALRD3, DHX30, ELP6, EXOSC7, FBXW12, FYCO1, IMPDH2, IP6K2, KIF9, KLHL18, LARS2, LIMD1, LRRC2, LTF, LZTFL1, MAP4, MIR191, MYL3, NBEAL2, NCKIPSD, NDUFAF3, NME6, P4HTM, PFKFB4, PLXNB1, PRKAR2A, PRSS50, PTH1R, PTPN23, QRICH1, RTP3, SACM1L, SCAP, SETD2, SHISA5, SLC25A20, SLC26A6, SLC6A20, SMARCC1, SPINK8, TDGF1, TGM4, TMA7, TMEM158, TMEM89, TMIE, TREX1, UCN2, UQCRC1, WDR6, XCR1, ZDHHC3, ZNF589 1 0 0 0 0 1
ANGPT4, CSNK2A1, FAM110A, SCRT2, SLC52A3, SRXN1, TCF15 0 0 1 0 0 1
ANKRD17, COX18 0 0 1 0 0 1
APC 1 0 0 0 0 1
ATG3, ATP6V1A, BOC, BTLA, CCDC191, CCDC80, CD200R1, CD200R1L, CFAP44, DRD3, GAP43, GRAMD1C, GTPBP8, NAA50, NEPRO, QTRT2, SIDT1, SLC35A5, SPICE1, TIGIT, USF3, ZBTB20, ZDHHC23, ZNF80 1 0 0 0 0 1
ATP2B1, C12orf29, C12orf50, CEP290, DUSP6, GALNT4, KITLG, POC1B, POC1B-GALNT4, TMTC3 0 1 0 0 0 1
B3GNTL1, FN3K, FN3KRP, METRNL, RAB40B, TBCD, WDR45B, ZNF750 0 1 0 0 0 1
BCAT1, C2CD5, ETNK1, IRAG2, LINC02909, SOX5 1 0 0 0 0 1
BRSK1, CCDC106, COX6B2, DNAAF3, EPN1, EPS8L1, FIZ1, GARIN5B, GP6, HSPBP1, IL11, ISOC2, KMT5C, NAT14, NLRP11, NLRP13, NLRP2, NLRP4, NLRP7, NLRP8, NLRP9, PPP1R12C, PPP6R1, PTPRH, RDH13, RFPL4A, RFPL4AL1, RPL28, SBK2, SHISA7, SSC5D, SYT5, TMEM150B, TMEM190, TMEM238, TMEM86B, TNNI3, TNNT1, U2AF2, UBE2S, ZNF524, ZNF579, ZNF580, ZNF581, ZNF628, ZNF784, ZNF865 0 0 1 0 0 1
CA1, CA13, CA2, CA3, CHMP4C, CRISPLD1, E2F5, FABP12, FABP4, FABP5, FABP9, HEY1, HNF4G, IL7, IMPA1, LRRCC1, MRPS28, PAG1, PEX2, PKIA, PMP2, PSKH2, RALYL, RBIS, SLC10A5, SNX16, STMN2, TPD52, ZBTB10, ZC2HC1A, ZFAND1, ZFHX4, ZNF704 1 0 0 0 0 1
CDR2, EEF2K, MOSMO, NPIPB4, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A 1 0 0 0 0 1
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 1
CHRNA7 0 0 0 0 1 1
CLASP1, CNTNAP5, EPB41L5, GLI2, GYPC, INHBB, NIFK, PTPN4, RALB, RNU4ATAC, TFCP2L1, TMEM185B, TSN 1 0 0 0 0 1
CNTN6 0 0 1 0 0 1
CPLX1, GAK, PCGF3 0 0 1 0 0 1
CPQ, GDF6, MTERF3, PTDSS1, SDC2, UQCRB 1 0 0 0 0 1
CRHR1, KANSL1, MAPT, SPPL2C, STH 1 0 0 0 0 1
CYFIP1, NIPA1, NIPA2 0 0 0 0 1 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 1 0 0 0 0 1
ELAC2 0 0 1 0 0 1
EP300 1 0 0 0 0 1
FAM81B, MCTP1, SKIC3 0 0 1 0 0 1
FOXL2 0 1 0 0 0 1
KAT6B 1 0 0 0 0 1
MYBPC3 0 1 0 0 0 1
MYH11 1 0 0 0 0 1
MYH7 0 1 0 0 0 1
OR10A2, OR10A4, OR10A5, OR2D2, OR2D3, ZNF215 0 0 1 0 0 1
RAF1 1 0 0 0 0 1
SHH 0 1 0 0 0 1
UNC13B 0 0 0 1 0 1
XG 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 20
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign risk factor total
not provided 16 8 14 1 1 40
Chromosome 1p36 deletion syndrome 2 0 0 0 0 2
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 2 0 0 0 0 2
Proximal 16p11.2 microdeletion syndrome 2 0 0 0 0 2
15q14 microdeletion syndrome 1 0 0 0 0 1
2q24 microdeletion syndrome 1 0 0 0 0 1
7q11.23 microduplication syndrome 1 0 0 0 0 1
Chromosome 15q11.2 deletion syndrome 1 0 0 0 0 1
Chromosome 17q11.2 deletion syndrome, 1.4Mb 1 0 0 0 0 1
Chromosome 1q21.1 deletion syndrome 1 0 0 0 0 1
Chromosome 1q21.1 duplication syndrome 1 0 0 0 0 1
Chromosome 8q21.11 deletion syndrome 1 0 0 0 0 1
Familial adenomatous polyposis due to 5q22.2 microdeletion 1 0 0 0 0 1
Gorlin syndrome 1 0 0 0 0 1
Intellectual disability 0 0 0 0 1 1
Koolen-de Vries syndrome 1 0 0 0 0 1
Lamb-Shaffer syndrome 1 0 0 0 0 1
Left ventricular noncompaction 10 0 1 0 0 0 1
Leri pleonosteosis 1 0 0 0 0 1
Velocardiofacial syndrome; DiGeorge syndrome 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.