ClinVar Miner

List of variants reported as likely pathogenic by Laboratoire de Génétique Moléculaire, CHU Bordeaux

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
Download table as spreadsheet
HGVS dbSNP
NM_000082.4(ERCC8):c.173+3_173+6del
NM_000153.4(GALC):c.1753G>T (p.Gly585Cys)
NM_000280.4(PAX6):c.112C>G (p.Arg38Gly) rs397514640
NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn) rs863224852
NM_001134407.3(GRIN2A):c.3041G>A (p.Trp1014Ter)
NM_001375380.1(EBF3):c.626G>A (p.Arg209Gln) rs1131692261
NM_001673.5(ASNS):c.58A>C (p.Ser20Arg)
NM_001673.5(ASNS):c.736C>T (p.Arg246Cys)
NM_001822.7(CHN1):c.661T>C (p.Tyr221His) rs1553475005
NM_001830.4(CLCN4):c.265G>A (p.Asp89Asn) rs1064794385
NM_002641.3(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_002662.5(PLD1):c.2083C>T (p.Arg695Cys)
NM_003907.3(EIF2B5):c.1165G>A (p.Val389Met)
NM_003907.3(EIF2B5):c.468C>G (p.Ile156Met)
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294
NM_004830.4(MED23):c.3142T>A (p.Tyr1048Asn)
NM_006521.6(TFE3):c.557C>T (p.Pro186Leu)
NM_006796.3(AFG3L2):c.2073_2096dup (p.Glu691_Asp698dup)
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_012199.5(AGO1):c.1073A>G (p.Gln358Arg)
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_012309.5(SHANK2):c.180_187del (p.Val61fs)
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter) rs772475341
NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met) rs1595560288
NM_013328.4(PYCR2):c.647T>G (p.Met216Arg)
NM_013328.4(PYCR2):c.752G>A (p.Arg251His)
NM_014795.4(ZEB2):c.978_989del (p.His328_Ser331del)
NM_016120.4(RLIM):c.131A>G (p.Tyr44Cys)
NM_016955.4(SEPSECS):c.114+3A>G
NM_017890.4(VPS13B):c.1248G>T (p.Gln416His) rs143024324
NM_018669.6(WDR4):c.509G>A (p.Arg170Gln) rs1292041526
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024570.4(RNASEH2B):c.65-13G>A
NM_024665.7(TBL1XR1):c.503A>G (p.His168Arg)
NM_024915.4(GRHL2):c.1192T>C (p.Tyr398His) rs587777737
NM_025099.6(CTC1):c.833G>T (p.Gly278Val) rs768853291
NM_031844.3(HNRNPU):c.803G>A (p.Arg268Lys)
NM_032531.4(KIRREL3):c.941G>T (p.Cys314Phe)
NM_052867.4(NALCN):c.1756G>C (p.Ala586Pro)
NM_052988.5(CDK10):c.24C>A (p.Cys8Ter)
NM_181458.4(PAX3):c.530C>G (p.Ala177Gly)
NM_183075.3(CYP2U1):c.1325T>A (p.Ile442Asn)

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.