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
45 12 17 1 0 2 77

Gene and significance breakdown #

Total genes and gene combinations: 68
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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
CHD7 1 1 0 0 0 2
DOCK8 0 0 2 0 0 2
PIEZO2 1 1 0 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, TMEM278, TMEM52, 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, CRIPTO, 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, 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, QTRT2, RMP64, SIDT1, SLC35A5, SPICE1, TIGIT, USF3, ZBTB20, ZDHHC23, ZNF80 1 0 0 0 0 1
ATP2B1, C12orf50, CEP290, DUSP6, GALNT4, KITLG, POC1B, POC1B-GALNT4, RLIG1, 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
CERS1, GDF1 0 0 1 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, GOLGA6L1, GOLGA6L2, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, PWRN1, PWRN2, SNRPN, TUBGCP5 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
CYP21A2, LOC106780800 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
GJB1 1 0 0 0 0 1
KAT6B 1 0 0 0 0 1
KCNQ2 1 0 0 0 0 1
KMT2D 0 1 0 0 0 1
LEMD3 1 0 0 0 0 1
LOC126860121, TRRAP 0 0 1 0 0 1
LURAP1L, TYRP1 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
NF1 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
VPS13B 1 0 0 0 0 1
XG 1 0 0 0 0 1
ZEB2 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 35
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign risk factor total
not provided 16 8 14 1 1 40
CHARGE syndrome 1 1 0 0 0 2
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
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 0 1 0 0 0 1
Charcot-Marie-Tooth disease X-linked dominant 1 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
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1 0 0 0 0 1
Cohen syndrome 1 0 0 0 0 1
Congenital heart defects, multiple types, 6 0 0 1 0 0 1
Dermatofibrosis lenticularis disseminata 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 7 1 0 0 0 0 1
Familial adenomatous polyposis due to 5q22.2 microdeletion 1 0 0 0 0 1
Gordon syndrome 1 0 0 0 0 1
Gorlin syndrome 1 0 0 0 0 1
Hearing loss, autosomal dominant 75 0 0 1 0 0 1
Intellectual disability 0 0 0 0 1 1
Kabuki syndrome 1 0 1 0 0 0 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
Mowat-Wilson syndrome 0 0 1 0 0 1
Neurofibromatosis-Noonan syndrome 0 1 0 0 0 1
Oculocutaneous albinism type 3 1 0 0 0 0 1
Prader-Willi syndrome 1 0 0 0 0 1
Velocardiofacial syndrome; DiGeorge syndrome 1 0 0 0 0 1

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