ClinVar Miner

List of variants reported as likely pathogenic by Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 87
Download table as spreadsheet
HGVS dbSNP
NM_000163.5(GHR):c.476T>A (p.Leu159Ter)
NM_000163.5(GHR):c.875+5G>A
NM_000738.3(CHRM1):c.1274T>C (p.Phe425Ser)
NM_000814.6(GABRB3):c.916A>G (p.Ile306Val)
NM_000834.5(GRIN2B):c.2555del (p.Gly852fs)
NM_000834.5(GRIN2B):c.2825del (p.Thr942fs)
NM_001009944.3(PKD1):c.5977_5979del (p.Thr1993del)
NM_001029882.3(AHDC1):c.1122dup (p.Gly375fs) rs749294057
NM_001029896.2(WDR45):c.695G>A (p.Arg232His) rs781978699
NM_001032382.2(PQBP1):c.181G>A (p.Gly61Arg)
NM_001039591.3(USP9X):c.1986-1G>T
NM_001039591.3(USP9X):c.4726T>A (p.Tyr1576Asn)
NM_001040142.2(SCN2A):c.3711del (p.Ile1238fs)
NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His) rs1057521250
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln) rs886039472
NM_001110556.2(FLNA):c.514C>T (p.Leu172Phe)
NM_001111125.3(IQSEC2):c.3463C>T (p.Arg1155Trp)
NM_001128840.3(CACNA1D):c.1955C>T (p.Ser652Leu)
NM_001130438.3(SPTAN1):c.5832+1G>C
NM_001145358.2(SIN3A):c.3179A>G (p.Asp1060Gly)
NM_001161725.2(PPP2R5C):c.491A>G (p.His164Arg)
NM_001190274.2(FBXO11):c.1340G>C (p.Arg447Thr)
NM_001190274.2(FBXO11):c.1523A>G (p.His508Arg)
NM_001197104.2(KMT2A):c.3472T>C (p.Cys1158Arg)
NM_001202.6(BMP4):c.666del (p.Arg223fs)
NM_001282531.3(ADNP):c.2712dup (p.Asn905Ter)
NM_001330260.2(SCN8A):c.4911T>G (p.Ile1637Met)
NM_001330723.2(SNX27):c.782dup (p.Leu262fs)
NM_001330723.2(SNX27):c.989G>A (p.Arg330His)
NM_001347721.2(DYRK1A):c.1015G>A (p.Gly339Arg)
NM_001371928.1(AHDC1):c.877G>T (p.Glu293Ter)
NM_001377275.1(PER3):c.1998dup (p.Met667fs)
NM_001379403.1(WDR26):c.1163-1G>A
NM_001389.5(DSCAM):c.4216G>A (p.Gly1406Ser)
NM_001519.4(BRF1):c.875C>G (p.Pro292Arg)
NM_001791.4(CDC42):c.509A>G (p.Asp170Gly)
NM_001830.4(CLCN4):c.2153G>A (p.Arg718Gln) rs779824005
NM_001904.4(CTNNB1):c.703G>A (p.Gly235Arg)
NM_002024.6(FMR1):c.866C>T (p.Pro289Leu)
NM_003545.4(H4C5):c.136C>T (p.Arg46Cys) rs950721550
NM_003907.3(EIF2B5):c.862C>G (p.His288Asp)
NM_004380.3(CREBBP):c.5367C>G (p.Asn1789Lys)
NM_004380.3(CREBBP):c.6113_6137dup (p.Ala2047fs) rs1596784713
NM_004586.3(RPS6KA3):c.298A>T (p.Lys100Ter)
NM_004606.5(TAF1):c.4276A>G (p.Met1426Val)
NM_004859.4(CLTC):c.4481del (p.Ser1494fs)
NM_004928.3(CFAP410):c.286G>A (p.Glu96Lys)
NM_005120.3(MED12):c.1379T>C (p.Leu460Ser)
NM_005445.4(SMC3):c.2002TAT[1] (p.Tyr669del)
NM_005654.6(NR2F1):c.320A>G (p.Lys107Arg)
NM_005859.5(PURA):c.221A>G (p.Tyr74Cys)
NM_005862.3(STAG1):c.1117C>T (p.Arg373Ter)
NM_006218.4(PIK3CA):c.2816A>G (p.Asp939Gly)
NM_006265.3(RAD21):c.628G>T (p.Glu210Ter)
NM_006494.4(ERF):c.157G>A (p.Gly53Arg)
NM_006766.5(KAT6A):c.3353-1G>A rs1351334408
NM_006852.6(TLK2):c.754C>T (p.Gln252Ter)
NM_006908.5(RAC1):c.218C>T (p.Pro73Leu)
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_014141.6(CNTNAP2):c.686_688del (p.Glu229del)
NM_014225.6(PPP2R1A):c.539T>G (p.Met180Arg)
NM_014225.6(PPP2R1A):c.655T>C (p.Ser219Pro)
NM_014271.4(IL1RAPL1):c.1046T>C (p.Leu349Pro)
NM_014795.4(ZEB2):c.982C>T (p.His328Tyr)
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter) rs879255404
NM_015176.4(FBXO28):c.1043G>T (p.Arg348Leu) rs1553292987
NM_015335.5(MED13L):c.6583C>T (p.His2195Tyr)
NM_015570.4(AUTS2):c.1717C>T (p.Pro573Ser)
NM_015959.4(TMX2):c.392del (p.Leu131fs)
NM_015959.4(TMX2):c.454C>T (p.Arg152Trp)
NM_016120.4(RLIM):c.366G>C (p.Trp122Cys)
NM_017541.4(CRYGS):c.23T>A (p.Ile8Asn)
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017635.5(KMT5B):c.1175-6_1183del
NM_017635.5(KMT5B):c.1569_1570del (p.Gly524fs)
NM_017649.5(CNNM2):c.1804C>T (p.Arg602Ter)
NM_017934.7(PHIP):c.1137-7_1140del
NM_020732.3(ARID1B):c.2371+5G>A rs1554298239
NM_020732.3(ARID1B):c.4110G>A (p.Pro1370=) rs797045277
NM_021120.4(DLG3):c.1520+1G>T
NM_022552.5(DNMT3A):c.1490G>T (p.Cys497Phe)
NM_024665.6(TBL1XR1):c.1043A>G (p.His348Arg) rs1576994053
NM_030630.3(HID1):c.1149+1G>T
NM_032271.3(TRAF7):c.1873C>G (p.Leu625Val)
NM_033343.4(LHX4):c.171T>G (p.Cys57Trp)
NM_057175.5(NAA15):c.1798_1801del (p.Arg600fs)
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.