ClinVar Miner

Variants from Clinical Genetics, Erasmus University Medical Center

Location: Netherlands  Primary collection method: research
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 total
11 23 143 99 41 317

Gene and significance breakdown #

Total genes and gene combinations: 260
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
​intergenic 0 0 8 21 5 34
KIFBP 0 0 5 0 0 5
NRG3 0 0 3 0 0 3
TENT5A 0 1 2 0 0 3
ACAD10, ALDH2, MAPKAPK5 0 0 0 0 2 2
ATP2C2 0 0 0 1 1 2
CACNB2 0 0 2 0 0 2
CFTR 0 0 2 0 0 2
CLMP, LOC112042785 2 0 0 0 0 2
CNTN5 0 0 0 0 2 2
CSMD1 0 0 0 0 2 2
DENND3 0 0 2 0 0 2
FOXF1 0 2 0 0 0 2
GPC5 0 0 0 2 0 2
LINC01082 2 0 0 0 0 2
OR4F15, OR4F6 0 0 0 0 2 2
PDE4D 0 0 1 0 1 2
PTPRD 0 0 0 2 0 2
RHCE 0 0 2 0 0 2
YWHAE 0 0 2 0 0 2
A2M, KLRG1 0 0 1 0 0 1
A4GALT 0 0 0 1 0 1
ABCB8, ABCF2, ACTR3B, ACTR3C, AGAP3, AOC1, ARHGEF35, ARHGEF5, ASB10, ASIC3, ATG9B, ATP6V0E2, C7orf33, CDK5, CHPF2, CNPY1, CNTNAP2, CRYGN, CTAGE4, CTAGE8, 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, NOBOX, NOM1, NOS3, NUB1, OR2A1, OR2A42, OR2A7, PAXIP1, PDIA4, PRKAG2, PTPRN2, RARRES2, RBM33, REPIN1, RHEB, RNF32, RNY1, RNY3, RNY4, RNY5, SHH, SLC4A2, SMARCD3, TMEM176A, TMEM176B, TMUB1, TPK1, UBE3C, VIPR2, WDR86, XRCC2, ZBED6CL, ZNF212, ZNF282, ZNF398, ZNF425, ZNF467, ZNF746, ZNF775, ZNF777, ZNF783, ZNF786, ZNF862 1 0 0 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NTAN1, PDXDC1, RRN3 0 1 0 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MYH11, NDE1 0 0 1 0 0 1
ABCF1, ABHD16A, AIF1, APOM, ATAT1, ATP6V1G2, BAG6, C6orf136, C6orf15, C6orf47, CCHCR1, CDSN, CSNK2B, DDR1, DDX39B, DHX16, FLOT1, GABBR1, GNL1, GPANK1, GPX5, GPX6, GTF2H4, HCG17, HCG22, HCG26, HCP5, HLA-A, HLA-B, HLA-C, HLA-E, HLA-F, HLA-G, IER3, LST1, LTA, LTB, LY6G5B, LY6G5C, LY6G6D, LY6G6F, MAS1L, MCCD1, MDC1, MICA, MICB, MIR877, MOG, MRPS18B, MUC21, MUC22, MUCL3, NCR3, NFKBIL1, NKAPL, NRM, OR10C1, OR11A1, OR12D2, OR12D3, OR14J1, OR2B3, OR2H1, OR2H2, OR2J2, OR2J3, OR2W1, OR5V1, PGBD1, POLR1H, POU5F1, PPP1R10, PPP1R11, PPP1R18, PRR3, PRRC2A, PSORS1C1, PSORS1C2, RNF39, RPP21, SCAND3, SFTA2, TCF19, TNF, TRA-TGC7-1, TRIM10, TRIM15, TRIM26, TRIM27, TRIM31, TRIM39, TRIM39-RPP21, TRIM40, TUBB, UBD, VARS2, ZFP57, ZKSCAN3, ZKSCAN4, ZKSCAN8, ZNF165, ZNF311, ZSCAN12, ZSCAN16, ZSCAN23, ZSCAN26, ZSCAN31, ZSCAN9 0 1 0 0 0 1
ABL2, ACBD6, ANGPTL1, AXDND1, CEP350, FAM163A, FAM20B, IER5, KIAA1614, LHX4, MR1, NPHS2, QSOX1, RALGPS2, SOAT1, STX6, TDRD5, TOR1AIP1, TOR1AIP2, TOR3A, XPR1 0 0 0 1 0 1
ACACB 0 0 0 0 1 1
ACOXL, ANAPC1, BCL2L11, BUB1, FBLN7, LIMS4, MERTK, RGPD6, RGPD8, TMEM87B, TTL, ZC3H6, ZC3H8 0 1 0 0 0 1
ADCY2, C5orf49, FASTKD3, MTRR 0 0 0 1 0 1
ADM2, DENND6B, HDAC10, LMF2, MAPK11, MAPK12, MIOX, NCAPH2, PLXNB2, PPP6R2, SBF1, SELENOO, TUBGCP6 0 0 1 0 0 1
AFAP1, SORCS2 0 0 0 1 0 1
AGAP6, ARHGAP22, ASAH2, C10orf53, C10orf71, CHAT, DRGX, ERCC6, FAM170B, FAM25C, FRMPD2, LRRC18, MAPK8, MSMB, NCOA4, OGDHL, PARG, PGBD3, SGMS1, SLC18A3, TIMM23, TMEM273, VSTM4, WASHC2A, WDFY4 0 1 0 0 0 1
AHNAK 0 1 0 0 0 1
AHR 0 0 0 0 1 1
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 0 1 0 0 0 1
AKT3 0 1 0 0 0 1
ALDH3A2, SLC47A1 0 0 0 1 0 1
ALPG, ALPI, ALPP, DIS3L2 0 0 0 1 0 1
AMBRA1 0 0 1 0 0 1
AMER3, ARHGEF4, FAM168B, GPR148, PLEKHB2, POTEE 0 0 0 1 0 1
ANGEL2, VASH2 0 0 1 0 0 1
ANKLE2, PGAM5, POLE, PXMP2 0 0 0 1 0 1
ANKRD50, FAT4 0 1 0 0 0 1
AP5Z1, FOXK1, RADIL 0 0 1 0 0 1
APPBP2, BCAS3, BRIP1, C17orf64, CA4, HEATR6, INTS2, LINC02875, MED13, NACA2, PPM1D, TBX2, TBX4, USP32 0 1 0 0 0 1
ARHGAP36, ENOX2 0 0 0 1 0 1
ARHGEF10, CLN8, DLGAP2 0 0 0 0 1 1
ARHGEF35, CTAGE4, CTAGE6, OR2A12, OR2A14, OR2A2, OR2A25, OR2A5, OR2F1, OR2F2, OR6B1, TCAF1, TCAF2 0 0 0 0 1 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, DGCR8, ESS2, GNB1L, GP1BB, GSC2, HIRA, MRPL40, PRODH, RANBP1, RTL10, RTN4R, SEPTIN5, SLC25A1, TANGO2, TBX1, TRMT2A, TSSK2, TXNRD2, UFD1, USP18, ZDHHC8 0 1 0 0 0 1
ASAH2, SGMS1, WASHC2A 0 0 0 1 0 1
ASIC5, CTSO, TDO2 0 0 0 1 0 1
ASPHD2, HPS4, SRRD 0 0 1 0 0 1
ATIC, FN1, LOC122861288, LOC122861289, LOC126806496, LOC126806497, LOC126806498, LOC126806499 0 0 1 0 0 1
ATP1A3 0 0 1 0 0 1
ATP6V0A1 0 0 1 0 0 1
ATP6V1C2, NOL10 0 0 1 0 0 1
BCO1, PKD1L2 0 0 0 0 1 1
BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NPIPA1, NPIPA5, NTAN1, PDXDC1, RRN3 0 0 1 0 0 1
BPI 0 0 0 0 1 1
BRD3, RNU6ATAC, VAV2, WDR5 0 0 0 1 0 1
C11orf40, HBB, MMP26, OR51A2, OR51A4, OR51A7, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51L1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B4, OR52E2, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52M1, OR52R1, TRIM21, TRIM68 0 1 0 0 0 1
C14orf28, FSCB 0 0 0 0 1 1
C16orf95, FBXO31, FENDRR, FOXC2, FOXF1, FOXL1, JPH3, MAP1LC3B, MTHFSD, ZCCHC14, ZCCHC14-DT 1 0 0 0 0 1
C1orf174, DFFB 0 0 1 0 0 1
C2CD4A 0 0 1 0 0 1
C2CD4B 0 0 1 0 0 1
C4A, C4B, CYP21A2 0 0 0 0 1 1
C4orf46, ETFDH, LOC123493226, PPID, RXFP1 0 0 1 0 0 1
CACNA1C 0 0 1 0 0 1
CADM2 0 0 0 0 1 1
CASC15, LOC129995974, LOC129995975 0 0 1 0 0 1
CBR3, DOP1B 0 0 0 0 1 1
CCDC102B, TMX3 0 0 1 0 0 1
CCDC7, ITGB1 0 0 0 1 0 1
CCNO, CDC20B, DHX29, ESM1, GPX8, GZMA, GZMK, MCIDAS, MIR449A, MIR449B, MTREX, PLPP1, SLC38A9, SNX18 0 0 0 1 0 1
CCPG1, DNAAF4, PIERCE2, PIGB, PRTG, PYGO1, RAB27A, RSL24D1 0 0 0 1 0 1
CCR9, LZTFL1 0 0 1 0 0 1
CDC27 0 0 1 0 0 1
CDH17, GEM 0 0 1 0 0 1
CDK2AP1, KMT5A, MPHOSPH9, MTRFR, RILPL1, RILPL2, SBNO1, SNRNP35 0 0 0 1 0 1
CDKAL1 0 1 0 0 0 1
CDRT15L2, LGALS9B, SPECC1 0 0 0 1 0 1
CEP83 0 0 1 0 0 1
CGNL1 0 0 1 0 0 1
CHODL, TMPRSS15 0 0 0 1 0 1
CHORDC1, CTSC, FOLH1B, GRM5, NAALAD2, NOX4, RAB38, TRIM49, TRIM49C, TRIM49D1, TRIM49D2, TRIM64, TRIM64B, TRIM77, TYR, UBTFL1 0 0 0 1 0 1
CHRNA7, GOLGA8O 0 1 0 0 0 1
CLDN18 0 0 1 0 0 1
CLRN2, FAM184B, LAP3, MED28, QDPR 0 0 0 1 0 1
CLUH 0 0 1 0 0 1
CMA1 0 0 0 1 0 1
CMC4, FUNDC2, LOC121627986, LOC130068895, MTCP1 0 0 1 0 0 1
CMIP 0 0 1 0 0 1
COL3A1, LOC126806446, MIR3606 0 0 1 0 0 1
CRISP2 0 0 1 0 0 1
CTNS, SHPK, TRPV1 0 0 0 0 1 1
CTXND1 0 0 1 0 0 1
CXCR1, CXCR2, RUFY4, TNS1 0 0 1 0 0 1
CYFIP1, GOLGA6L1, NIPA1, NIPA2, TUBGCP5 0 0 0 0 1 1
CYP2C19 0 0 0 0 1 1
CYP2R1, PDE3B 0 0 0 1 0 1
DEF6, FANCE, PPARD 0 0 0 1 0 1
DEFB126, DEFB127, DEFB128 0 0 0 1 0 1
DEPDC1 0 0 1 0 0 1
DES 0 0 1 0 0 1
DGCR2, DGCR6, PRODH 0 1 0 0 0 1
DNAH12 0 0 1 0 0 1
DPPA2, GUCA1C, MORC1 0 0 0 1 0 1
DPPA5 0 0 1 0 0 1
DPT, XCL1, XCL2 0 0 0 1 0 1
DROSHA 0 0 1 0 0 1
DSCAM 0 0 1 0 0 1
DST 0 0 1 0 0 1
DUSP21, EFHC2, FUNDC1 0 0 0 1 0 1
DYNC2H1 0 0 1 0 0 1
EDNRB 0 0 1 0 0 1
ENOX1 0 0 0 1 0 1
EPHB1 0 0 0 1 0 1
ERC1, NINJ2, RAD52, WNK1 0 0 0 1 0 1
ETFA 0 0 0 1 0 1
ETFDH 0 0 1 0 0 1
F5 0 0 1 0 0 1
FAT1 0 1 0 0 0 1
FBXW11, STK10 0 0 1 0 0 1
FGD6, VEZT 0 0 0 1 0 1
FGL1, MTUS1, PCM1 0 0 0 1 0 1
FHIT, LOC107325936 0 1 0 0 0 1
FLG 0 0 1 0 0 1
FMN2 0 0 1 0 0 1
GABRG2 0 0 1 0 0 1
GALNT11, KMT2C 0 0 1 0 0 1
GBE1 0 0 0 0 1 1
GDNF 0 0 1 0 0 1
GFRA1 0 0 1 0 0 1
GLI2 0 0 0 1 0 1
GLI3 0 1 0 0 0 1
GRIK2 0 0 0 1 0 1
GUCA1C, MORC1, TRAT1 0 0 1 0 0 1
HDAC8 0 0 0 1 0 1
HIC2 0 0 1 0 0 1
IGSF3 0 0 1 0 0 1
IHH 0 1 0 0 0 1
IKBKB 0 0 1 0 0 1
INO80D, NDUFS1 0 0 1 0 0 1
INSR 0 0 1 0 0 1
IQCF5 0 0 1 0 0 1
ITGB1 0 0 1 0 0 1
KCNA6 0 0 1 0 0 1
KCNN3 0 0 1 0 0 1
KIAA1328 0 0 0 1 0 1
KIFBP, LOC130003959 0 0 1 0 0 1
KLHDC4 0 0 0 1 0 1
KLRD1, KLRK1 0 0 0 1 0 1
L3MBTL4 0 0 1 0 0 1
LGALS9 0 0 0 1 0 1
LINC00114 0 0 0 1 0 1
LINC02907 0 0 0 0 1 1
LINGO2 0 0 1 0 0 1
LMCD1 0 0 1 0 0 1
LMOD1 1 0 0 0 0 1
LOC101928335, MID2 0 0 1 0 0 1
LOC105378311, PCDH15 0 0 1 0 0 1
LOC120961747, SLC8A1 0 1 0 0 0 1
LOC126807401, PLK2 0 0 1 0 0 1
LOC126860794, NOTCH1 0 0 1 0 0 1
LRBA 0 0 1 0 0 1
LRRC32 0 0 0 1 0 1
LRRC4C 0 0 0 1 0 1
LRRTM4 0 0 0 1 0 1
MACROD2 0 0 0 0 1 1
MAN2A2 0 0 1 0 0 1
MBD5 0 0 0 1 0 1
MED15 0 0 1 0 0 1
MGAM2 0 0 1 0 0 1
MID1 1 0 0 0 0 1
MIR103A2, PANK2 0 0 0 1 0 1
MMD2, RBAK, RBAK-RBAKDN 0 0 1 0 0 1
MPLKIP, SUGCT 0 0 0 1 0 1
MROH5, PTP4A3 0 0 0 0 1 1
MTUS2 0 0 0 1 0 1
MTX2 0 0 1 0 0 1
MUC5AC, MUC5B 0 0 0 1 0 1
MYBPC3 0 0 1 0 0 1
MYLK 1 0 0 0 0 1
MYO10 0 0 0 1 0 1
NAGS 0 0 1 0 0 1
NAV2 0 0 1 0 0 1
NCKAP5 0 0 0 0 1 1
NLRP2, NLRP7 0 0 0 1 0 1
NOTCH2 0 0 1 0 0 1
NOTCH4 0 0 1 0 0 1
NRK, PWWP3B, SERPINA7 0 0 0 1 0 1
NRP2 0 0 1 0 0 1
NUP98 0 0 1 0 0 1
NXN 0 0 0 0 1 1
OAS3 0 0 1 0 0 1
OPN4 0 0 0 1 0 1
OR1F1 0 0 0 1 0 1
OTOGL 0 0 1 0 0 1
PACS1 0 0 1 0 0 1
PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHACT 0 0 1 0 0 1
PCNT 0 0 1 0 0 1
PDGFD 0 0 0 1 0 1
PEX13, SANBR 0 0 0 0 1 1
PGRMC2 0 0 1 0 0 1
PHAX 0 0 1 0 0 1
PHRF1 0 0 1 0 0 1
PIP, TAS2R39 0 0 0 1 0 1
POR 0 0 1 0 0 1
PRKN 0 0 0 0 1 1
PTPRN2 0 0 0 0 1 1
RBFOX1 0 0 0 1 0 1
RET 1 0 0 0 0 1
RGS7 0 0 1 0 0 1
RNASE3 0 0 0 1 0 1
ROBO2 0 0 0 1 0 1
RP1L1 0 0 0 1 0 1
RPGR 0 0 1 0 0 1
SDK1 0 0 1 0 0 1
SERPINF1 0 0 1 0 0 1
SGCG 0 0 0 1 0 1
SIPA1 0 0 1 0 0 1
SLC22A1 0 0 1 0 0 1
SLC23A2 0 0 0 1 0 1
SLC25A13 0 0 1 0 0 1
SLC29A4, TNRC18, WIPI2 0 0 1 0 0 1
SLC2A3 0 0 0 0 1 1
SLC6A6 0 1 0 0 0 1
SMYD3 0 0 0 1 0 1
SNF8 0 0 1 0 0 1
SP110 0 0 0 1 0 1
STAT5A 0 0 1 0 0 1
SWT1, TRMT1L 0 0 1 0 0 1
TBATA 0 0 1 0 0 1
TCF4 0 0 1 0 0 1
TENM2 0 0 1 0 0 1
TERT 0 0 1 0 0 1
TFAP2B 1 0 0 0 0 1
TGFB2 0 0 1 0 0 1
THSD7B 0 0 0 1 0 1
THUMPD2 0 0 0 1 0 1
TMEM108 0 0 1 0 0 1
TMEM132C 0 0 1 0 0 1
TMEM165 0 0 1 0 0 1
TNFSF11 0 0 0 1 0 1
TOX3 0 0 1 0 0 1
TRPC6 0 0 0 1 0 1
TTC39B 0 0 0 0 1 1
UGT2B10 0 0 0 1 0 1
VCL 0 0 1 0 0 1
VCX2 0 0 0 0 1 1
VCX3B 0 0 0 0 1 1
WDR13 0 0 1 0 0 1
XKR9 0 0 0 1 0 1
ZEB2 0 0 1 0 0 1
ZNF347, ZNF665 0 0 0 1 0 1
ZNF521 0 0 0 1 0 1
ZNF592 0 0 1 0 0 1
ZNF804B 0 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 10
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Abnormal esophagus morphology 2 8 16 98 41 165
Megacolon 0 10 45 0 0 55
Aganglionic megacolon 0 0 34 0 0 34
Esophageal atresia; Pyloric stenosis 0 1 30 0 0 31
Hirschsprung disease, susceptibility to, 1 1 2 12 1 0 16
Goldberg-Shprintzen syndrome 0 0 6 0 0 6
Alveolar capillary dysplasia with pulmonary venous misalignment 3 2 0 0 0 5
Intestinal pseudo-obstruction 2 0 0 0 0 2
Visceral myopathy 1 2 0 0 0 0 2
Chronic intestinal pseudoobstruction 1 0 0 0 0 1

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