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
349 164 3652 3359 316 4 7755

Gene and significance breakdown #

Total genes and gene combinations: 54
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SOS1 34 18 633 628 64 0 1368
CBL 12 13 763 540 36 0 1363
RAF1 29 19 452 443 28 0 953
BRAF 50 14 365 393 34 1 849
PTPN11 120 34 304 303 23 0 766
MAP2K2 11 7 329 322 45 1 703
SHOC2 4 1 244 224 17 0 489
MAP2K1 15 8 181 216 17 1 430
KRAS 26 14 74 82 10 1 202
NRAS 6 6 86 65 9 0 171
CBL, LOC130006895 0 0 70 38 2 0 109
MAP2K1, SNAPC5 0 0 31 30 4 0 64
LOC129933535, SOS1 0 0 27 33 2 0 61
BRAF, LOC126860202 0 1 28 19 2 0 50
LOC130063193, MAP2K2 0 0 27 17 1 0 45
LZTR1 7 13 5 2 1 0 25
HRAS, LRRC56 8 1 2 2 10 0 23
RIT1 15 0 2 0 0 0 17
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
LOC130067016, LZTR1 1 0 1 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
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
MAP4K4 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: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 280 103 3624 3334 252 0 7593
ClinGen RASopathy Variant Curation Expert Panel 58 30 43 66 137 0 334
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 98 29 0 0 0 0 127
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
GenomeConnect - CFC International 0 0 0 0 0 2 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 2 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 1 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 0 1 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 1 0 0 0 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1

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