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
301 135 2641 2518 290 4 5809

Gene and significance breakdown #

Total genes and gene combinations: 52
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SOS1 33 13 466 450 54 0 1006
CBL 11 9 543 401 34 0 997
RAF1 28 16 336 350 26 0 739
BRAF 44 16 275 300 33 1 661
PTPN11 107 32 220 233 23 0 601
MAP2K2 7 9 249 251 45 1 550
SHOC2 3 2 171 158 17 0 349
MAP2K1 13 6 121 169 16 1 320
KRAS 22 16 50 55 10 1 148
NRAS 6 3 60 53 8 0 129
CBL, LOC130006895 0 0 48 29 2 0 78
MAP2K1, SNAPC5 0 0 22 24 4 0 49
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
SOS1, SOS1-IT1 1 0 2 0 0 0 3
ABCG4, C2CD2L, CBL, DPAGT1, DRC12, HINFP, NHERF4, NLRX1 0 0 2 0 0 0 2
CREB3L3, MAP2K2 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
ADRA2A, BBIP1, PDCD4, RBM20, SHOC2 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
AMPD1, AP4B1, BCAS2, CSDE1, DCLRE1B, DENND2C, HIPK1, NRAS, OLFML3, SIKE1, SYCP1, SYT6, TRIM33, TSHB 0 0 1 0 0 0 1
AMPD1, NRAS 0 0 1 0 0 0 1
APBA3, ATCAY, CACTIN, CELF5, CREB3L3, DAPK3, DIRAS1, DOHH, EEF2, FZR1, GADD45B, GIPC3, GNA11, GNA15, GNG7, HMG20B, LMNB2, MAP2K2, MATK, MFSD12, MRPL54, NCLN, NFIC, NMRK2, PIAS4, PIP5K1C, RAX2, S1PR4, SGTA, SLC39A3, SMIM24, TBXA2R, TEKTIP1, THOP1, TJP3, TLE2, TLE5, TLE6, ZBTB7A, ZFR2, ZNF554, ZNF555, ZNF556, ZNF77 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
ATP6V1E1 1 0 0 0 0 0 1
BBIP1, PDCD4, RBM20, SHOC2 1 0 0 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
CLCN1 1 0 0 0 0 0 1
DDC 1 0 0 0 0 0 1
EVC2 1 0 0 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
PAH 0 1 0 0 0 0 1
PTPN11, RPL6 0 0 0 0 1 0 1
RAF1, TMEM40 0 0 1 0 0 0 1
SLC26A4 0 1 0 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 249 96 2625 2494 234 0 5698
ClinGen RASopathy Variant Curation Expert Panel 25 10 26 59 126 0 246
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 86 25 0 0 0 0 111
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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