ClinVar Miner

Variants studied for neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

Included ClinVar conditions (2):
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
32 16 96 117 10 6 258

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COQ4 28 15 90 113 8 5 241
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
BBLN, CERCAM, CIZ1, COQ4, DNM1, GLE1, GOLGA2, LCN2, LOC101929270, LOC113839516, LOC113839517, LOC113839524, LOC124310652, LOC124310653, LOC129390114, LOC130002694, LOC130002695, LOC130002696, LOC130002697, LOC130002698, LOC130002699, LOC130002700, LOC130002701, LOC130002702, LOC130002703, LOC130002704, LOC130002705, LOC130002706, LOC130002707, LOC130002708, LOC130002709, LOC130002710, LOC130002711, MIR199B, MIR219A2, MIR219A2HG, MIR219B, MIR3154, ODF2, SLC27A4, SWI5, TRR-TCT3-1, TRUB2, URM1 0 0 1 0 0 0 1
COQ4, TRUB2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 18 6 86 116 10 0 236
OMIM 12 0 0 0 0 0 12
Fulgent Genetics, Fulgent Genetics 2 4 1 1 0 0 8
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
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 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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