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
327 154 3165 3004 308 4 6877

Gene and significance breakdown #

Total genes and gene combinations: 53
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CBL 12 10 665 487 35 0 1208
SOS1 34 18 542 557 59 0 1201
RAF1 29 18 405 400 28 0 862
BRAF 47 16 321 349 33 1 759
PTPN11 112 32 258 269 23 0 680
MAP2K2 9 8 296 292 45 1 639
SHOC2 4 1 204 194 17 0 419
MAP2K1 14 7 154 199 17 1 384
KRAS 24 15 62 67 10 1 174
NRAS 6 5 71 61 8 0 150
CBL, LOC130006895 0 0 59 36 2 0 96
LOC129933535, SOS1 0 0 24 32 2 0 57
MAP2K1, SNAPC5 0 0 25 29 4 0 57
BRAF, LOC126860202 0 1 25 13 2 0 41
LOC130063193, MAP2K2 0 0 21 15 1 0 37
HRAS, LRRC56 8 1 2 2 10 0 23
RIT1 14 0 2 0 0 0 16
LZTR1 2 7 2 0 1 0 9
SOS2 1 2 4 1 1 0 9
PPP1CB 3 2 0 0 3 0 8
MRAS 2 4 0 0 3 0 7
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
RRAS2 0 1 0 0 1 0 2
ABCG4, APOA1, APOA4, APOC3, ARCN1, ARHGEF12, ATP5MG, BACE1, BCL9L, C1QTNF5, C2CD2L, CBL, CD3D, CD3E, CD3G, CENATAC, CEP164, CXCR5, DDX6, DPAGT1, DRC12, 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
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
Labcorp Genetics (formerly Invitae), Labcorp 263 100 3144 2981 243 0 6731
ClinGen RASopathy Variant Curation Expert Panel 44 24 37 64 137 0 306
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 93 26 0 0 0 0 119
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
New York Genome Center 1 0 2 0 0 0 3
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
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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