ClinVar Miner

Variants studied for Down syndrome

Included ClinVar conditions (2):
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 risk factor total
2 1 5 2 0 1 11

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign risk factor total
GATA1 1 1 3 2 0 7
ABCG1, ADAMTS1, ADAMTS5, ADARB1, AGPAT3, AIRE, APP, ATP5PF, ATP5PO, B3GALT5, BACE2, BACH1, BRWD1, BTG3, C21orf58, C21orf91, C2CD2, CBR1, CBR3, CBS, CCT8, CFAP298, CFAP410, CHAF1B, CHODL, CLDN14, CLDN17, CLDN8, CLIC6, COL18A1, COL6A1, COL6A2, CRYAA, CRYZL1, CSTB, CXADR, CYYR1, DIP2A, DNAJC28, DNMT3L, DONSON, DOP1B, DSCAM, DSCR4, DSCR8, DYRK1A, EPCIP, ERG, ETS2, EVA1C, FAM3B, FTCD, GABPA, GART, GATD3, GET1, GRIK1, HLCS, HMGN1, HSF2BP, HSPA13, HUNK, ICOSLG, IFNAR1, IFNAR2, IFNGR2, IGSF5, IL10RB, ITGB2, ITSN1, JAM2, KCNE1, KCNE2, KCNJ15, KCNJ6, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP11-1, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, KRTAP13-1, KRTAP13-2, KRTAP13-3, KRTAP13-4, KRTAP15-1, KRTAP19-1, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP19-8, KRTAP20-1, KRTAP20-2, KRTAP20-3, KRTAP20-4, KRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP22-1, KRTAP22-2, KRTAP23-1, KRTAP24-1, KRTAP25-1, KRTAP26-1, KRTAP27-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP7-1, KRTAP8-1, LCA5L, LINC00114, LINC00163, LINC00315, LINC00334, LIPI, LRRC3, LSS, LTN1, MAP3K7CL, MCM3AP, MIR125B2, MIR155, MIR99A, MIRLET7C, MIS18A, MORC3, MRAP, MRPL39, MRPS6, MX1, MX2, N6AMT1, NCAM2, NDUFV3, NRIP1, OLIG1, OLIG2, PAXBP1, PCBP3, PCNT, PCP4, PDE9A, PDXK, PFKL, PIGP, PKNOX1, PLAC4, POFUT2, POTED, PRDM15, PRMT2, PSMG1, PTTG1IP, PWP2, RBM11, RCAN1, RIPK4, RIPPLY3, RRP1, RRP1B, RSPH1, RUNX1, RWDD2B, S100B, SAMSN1, SCAF4, SETD4, SH3BGR, SIK1, SIM2, SLC19A1, SLC37A1, SLC5A3, SLX9, SMIM11, SOD1, SON, SPATC1L, SUMO3, SYNJ1, TCP10L, TFF1, TFF2, TFF3, TIAM1, TMEM50B, TMPRSS15, TMPRSS2, TMPRSS3, TRAPPC10, TRPM2, TSPEAR, TTC3, U2AF1, UBASH3A, UBE2G2, UMODL1, URB1, USP16, USP25, VPS26C, WDR4, YBEY, ZBTB21 1 0 0 0 0 1
ALMS1 0 0 1 0 0 1
COL11A2 0 0 1 0 0 1
LOC105374344, RNF212 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance likely benign risk factor total
Fulgent Genetics, Fulgent Genetics 0 1 3 2 0 6
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 0 2 0 0 2
Mendelics 1 0 0 0 0 1
Cytogenetics & Genomics Research Unit, University of Calcutta 0 0 0 0 1 1
Cytogenetics, Genetics Associates, Inc. 1 0 0 0 0 1

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