ClinVar Miner

Variants studied for Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

Coded as:
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 not provided total
31 11 94 104 10 6 240

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COQ4 27 11 89 100 8 5 225
COQ4, LOC130002704 3 0 4 4 2 1 13
ABCA2, ABL1, ABO, ADAMTS13, ADAMTSL2, AGPAT2, AIF1L, AJM1, AK8, ANAPC2, ARRDC1, ASB6, ASS1, BARHL1, BRD3, C8G, C9orf163, C9orf50, C9orf78, CACFD1, CACNA1B, CAMSAP1, CARD9, CCDC183, CEL, CERCAM, CFAP77, CIMIP2A, CLIC3, COL5A1, COQ4, CRAT, CYSRT1, DBH, DDX31, DIPK1B, DNLZ, DOLK, DOLPP1, DPH7, DPP7, DYNC2I2, EDF1, EGFL7, EHMT1, ENDOG, ENTPD2, ENTPD8, ENTR1, EXD3, EXOSC2, FAM163B, FAM78A, FBXW5, FCN1, FCN2, FIBCD1, FNBP1, FUBP3, FUT7, GBGT1, GFI1B, GLE1, GLT6D1, GPR107, GPSM1, GRIN1, GTF3C4, GTF3C5, HMCN2, IER5L, INPP5E, KCNT1, KYAT1, LAMC3, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02907, LINC02908, LINC02913, LOC651337, LRRC26, LRRC8A, MAMDC4, MAN1B1, MED22, MED27, MIGA2, MIR126, MRPL41, MRPS2, MYMK, NACC2, NCS1, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, NTMT1, NTNG2, NUP188, NUP214, OBP2A, OBP2B, ODF2, OLFM1, PAEP, PAXX, PHPT1, PHYHD1, PIERCE1, PKN3, PLPP7, PMPCA, PNPLA7, POMT1, PPP1R26, PRDM12, PRRC2B, PRRX2, PTGDS, PTGES, PTPA, QRFP, QSOX2, RABL6, RALGDS, RAPGEF1, REXO4, RNF208, RNF224, RNU6ATAC, RPL7A, RXRA, SAPCD2, SARDH, SEC16A, SET, SETX, SH3GLB2, SLC27A4, SLC2A6, SLC34A3, SNAPC4, SNHG7, SOHLH1, SPACA9, SPOUT1, SPTAN1, SSNA1, STKLD1, STPG3, SURF1, SURF2, SURF4, SURF6, TBC1D13, TMEM141, TMEM203, TMEM210, TMEM250, TOR1A, TOR1B, TOR4A, TPRN, TRAF2, TSC1, TTF1, TUBB4B, UAP1L1, UBAC1, UCK1, URM1, USP20, VAV2, WDR5, ZDHHC12, ZER1, ZMYND19 0 0 1 0 0 0 1
AK1, BBLN, CDK9, CERCAM, CFAP157, CIZ1, COQ4, DNM1, DPM2, EEIG1, ENG, FPGS, GLE1, GOLGA2, LCN2, LOC101929270, LOC102723566, LOC106783495, LOC113839510, LOC113839511, LOC113839512, LOC113839513, LOC113839514, LOC113839515, LOC113839516, LOC113839517, LOC113839524, LOC114827831, LOC116216099, LOC116216100, LOC124310649, LOC124310650, LOC124310651, LOC124310652, LOC124310653, LOC124310654, LOC126860771, LOC129390114, LOC130002651, LOC130002652, LOC130002653, LOC130002654, LOC130002655, LOC130002656, LOC130002657, LOC130002658, LOC130002659, LOC130002660, LOC130002661, LOC130002662, LOC130002663, LOC130002664, LOC130002665, LOC130002666, LOC130002667, LOC130002668, LOC130002669, LOC130002670, LOC130002671, LOC130002672, LOC130002673, LOC130002674, LOC130002675, LOC130002676, LOC130002677, LOC130002678, LOC130002679, LOC130002680, LOC130002681, LOC130002682, LOC130002683, LOC130002684, LOC130002685, LOC130002686, LOC130002687, LOC130002688, LOC130002689, LOC130002690, LOC130002691, LOC130002692, LOC130002693, LOC130002694, LOC130002695, LOC130002696, LOC130002697, LOC130002698, LOC130002699, LOC130002700, LOC130002701, LOC130002702, LOC130002703, LOC130002704, LOC130002705, LOC130002706, LOC130002707, LOC130002708, LOC130002709, LOC130002710, LOC130002711, LOC130002712, LOC130002713, MIR199B, MIR219A2, MIR219A2HG, MIR219B, MIR2861, MIR3154, MIR3911, MIR3960, MIR4672, NAIF1, ODF2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, SLC27A4, SPTAN1, ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6, STXBP1, SWI5, TOR2A, TRR-TCT3-1, TRUB2, TTC16, URM1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 16 5 85 103 10 0 219
OMIM 12 0 0 0 0 0 12
GeneReviews 0 0 0 0 0 6 6
Baylor Genetics 2 1 2 0 0 0 5
Revvity Omics, Revvity 0 2 1 0 0 0 3
Centogene AG - the Rare Disease Company 1 0 2 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 1 1 1 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 1 0 0 0 2
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 2 0 0 0 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1

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