ClinVar Miner

Variants studied for holoprosencephaly 1

Included ClinVar conditions (6):
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
2 13 209 68 44 332

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FOXH1 0 0 90 43 21 150
NODAL 0 0 30 6 12 48
CDON 0 0 42 2 2 46
GLI2 0 0 15 1 2 18
FOXH1, KIFC2 0 0 11 1 3 15
FGF8 1 8 3 1 1 14
TGIF1 0 0 3 7 2 12
PTCH1 0 0 2 7 1 10
DISP1 0 0 2 0 0 2
FGFR1 1 1 0 0 0 2
GAS1 0 0 2 0 0 2
LAMA5 0 0 2 0 0 2
ZIC2 0 2 0 0 0 2
ADCK5, BOP1, CCDC166, CPSF1, CYC1, CYP11B1, CYP11B2, DGAT1, EEF1D, EPPK1, EXOSC4, FAM83H, FBXL6, FOXH1, GFUS, GLI4, GML, GPAA1, GPIHBP1, GPT, GRINA, GSDMD, HGH1, HSF1, KIFC2, LY6D, LY6E, LY6H, LY6S, LYNX1, LYPD2, MAF1, MAFA, MAPK15, MFSD3, MIR1234, MIR661, MROH1, MROH6, NAPRT, NRBP2, OPLAH, PARP10, PLEC, PPP1R16A, PUF60, PYCR3, RECQL4, RHPN1, SCRIB, SCRT1, SCX, SHARPIN, SLC39A4, SLC52A2, SLURP1, SPATC1, TIGD5, TMEM249, TONSL, TOP1MT, VPS28, ZC3H3, ZFP41, ZFTRAF1, ZNF623, ZNF696, ZNF707 0 0 1 0 0 1
BOC 0 0 1 0 0 1
CNOT1 0 0 1 0 0 1
DLL1 0 0 1 0 0 1
LOC100507346, PTCH1 0 0 1 0 0 1
LOC130065955, MATN4 0 0 1 0 0 1
MATN4 0 1 0 0 0 1
SHH 0 0 1 0 0 1
ZRSR2 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 134 29 35 198
Labcorp Genetics (formerly Invitae), Labcorp 0 0 65 39 14 118
Muenke lab, National Institutes of Health 2 6 6 0 1 15
Mendelics 0 0 1 1 3 5
Laboratory of Molecular Genetics, CHU Rennes 0 3 1 0 0 4
Center for Reproductive Medicine, Peking University Third Hospital 0 1 2 0 0 3
OMIM 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 1 0 0 0 1
Clinical Genetics Laboratory, Federal University of Health Sciences of Porto Alegre 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1

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