ClinVar Miner

Variants studied for RASopathy

Coded as:
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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
294 132 2617 2518 290 4 5776

Gene and significance breakdown #

Total genes and gene combinations: 40
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SOS1 33 13 465 450 54 0 1005
CBL 11 9 539 401 34 0 993
RAF1 28 15 334 350 26 0 737
BRAF 44 16 273 300 33 1 659
PTPN11 106 32 218 233 23 0 598
MAP2K2 7 9 249 251 45 1 550
SHOC2 3 2 170 158 17 0 348
MAP2K1 13 6 119 169 16 1 318
KRAS 22 16 48 55 10 1 146
NRAS 6 3 60 53 8 0 129
CBL, LOC130006895 0 0 48 29 2 0 78
MAP2K1, SNAPC5 0 0 21 24 4 0 48
LOC129933535, SOS1 0 0 22 19 2 0 42
BRAF, LOC126860202 0 1 20 11 2 0 34
LOC130063193, MAP2K2 0 0 13 12 1 0 26
HRAS, LRRC56 6 0 1 2 10 0 19
RIT1 11 0 0 0 0 0 11
LZTR1 1 4 1 0 0 0 6
NF1 0 4 0 0 0 0 4
ABCG4, C2CD2L, CBL, CCDC153, DPAGT1, HINFP, NHERF4, NLRX1 0 0 2 0 0 0 2
LOC129933533, LOC129933534, LOC129933535, SOS1 0 0 2 0 0 0 2
MRAS 1 1 0 0 0 0 2
SOS2 1 1 0 0 0 0 2
ABCG4, APOA1, APOA4, APOC3, ARCN1, ARHGEF12, ATP5MG, BACE1, BCL9L, C1QTNF5, C2CD2L, CBL, CCDC153, CD3D, CD3E, CD3G, CENATAC, CEP164, CXCR5, DDX6, DPAGT1, DSCAML1, FOXR1, FXYD2, FXYD6, FXYD6-FXYD2, GRIK4, H2AX, HINFP, HMBS, HYOU1, IFT46, IL10RA, JAML, KMT2A, MCAM, MFRP, MPZL2, MPZL3, NECTIN1, NHERF4, NLRX1, OAF, PAFAH1B2, PCSK7, PHLDB1, POU2F3, RNF214, RNF26, RPS25, SC5D, SCN2B, SCN4B, SIDT2, SIK3, SLC37A4, SORL1, TAGLN, TBCEL, TECTA, THY1, TLCD5, TMEM25, TMPRSS13, TMPRSS4, TRAPPC4, TREH, TRIM29, TTC36, UBE4A, UPK2, USP2, VPS11 0 0 1 0 0 0 1
ADCK2, AGK, ATP6V0A4, BRAF, CLEC2L, CLEC5A, DENND11, DENND2A, FMC1, FMC1-LUC7L2, IFT56, KDM7A, KIAA1549, KLRG2, LUC7L2, MGAM, MKRN1, MRPS33, NDUFB2, OR9A4, PARP12, PRSS37, RAB19, SLC37A3, SSBP1, TAS2R3, TAS2R38, TAS2R4, TAS2R5, TBXAS1, TMEM178B, TMEM213, UBN2, WEE2, ZC3HAV1, ZC3HAV1L 0 0 1 0 0 0 1
ADRA2A, BBIP1, DUSP5, MXI1, PDCD4, RBM20, SHOC2, SMC3, SMNDC1 0 0 1 0 0 0 1
AMPD1, AP4B1, BCAS2, BCL2L15, CASQ2, CSDE1, DCLRE1B, DENND2C, HIPK1, LRIG2, MAGI3, NGF, NRAS, OLFML3, PHTF1, PTPN22, RSBN1, SIKE1, SLC16A1, SYCP1, SYT6, TRIM33, TSHB, TSPAN2, VANGL1 0 0 1 0 0 0 1
ARHGEF33, ATL2, CDC42EP3, CEBPZ, CYP1B1, DHX57, EIF2AK2, GALM, GEMIN6, HNRNPLL, MORN2, NDUFAF7, PRKD3, QPCT, RMDN2, SOS1, SOS1-IT1, SRSF7, SULT6B1 1 0 0 0 0 0 1
ARHGEF33, ATL2, CYP1B1, DHX57, GALM, GEMIN6, HNRNPLL, MORN2, SOS1, SOS1-IT1, SRSF7 0 0 1 0 0 0 1
BRAF, LOC126860202, LOC129389895, LOC129389896, LOC129389897 0 0 1 0 0 0 1
C1QTNF5, CBL, MCAM, MFRP, NECTIN1, OAF, POU2F3, RNF26, THY1, TRIM29, USP2 0 0 1 0 0 0 1
KRAS, LOC130007561 0 0 0 0 1 0 1
KRAS, LOC132090079 0 0 1 0 0 0 1
LOC129389024, RAF1 0 0 1 0 0 0 1
MKRN2, RAF1 0 0 0 0 1 0 1
MKRN2, RAF1, TSEN2 0 0 1 0 0 0 1
PTPN11, RPL6 0 0 0 0 1 0 1
RAF1, TMEM40 0 0 1 0 0 0 1
SOS1, SOS1-IT1 0 0 1 0 0 0 1
SPRED1 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 246 96 2601 2494 234 0 5671
ClinGen RASopathy Variant Curation Expert Panel 25 10 26 59 126 0 246
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 80 22 0 0 0 0 102
Baylor Genetics 33 1 2 0 12 0 48
GeneDx 10 2 4 1 23 0 40
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 7 2 1 0 0 0 10
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 2 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
GenomeConnect - CFC International 0 0 0 0 0 2 2
New York Genome Center 1 0 1 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Institute of Medical Genetics, University of Zurich 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1

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