ClinVar Miner

List of variants reported as pathogenic for B-cell neoplasm

Included ClinVar conditions (12):
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ClinVar version:
Total variants: 23
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HGVS dbSNP
FGFR3, FGFR3/IGH FUSION
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000051.3(ATM):c.4081C>T (p.Gln1361Ter) rs121434222
NM_000051.3(ATM):c.7251_7253dup (p.Lys2418dup) rs796051857
NM_000051.3(ATM):c.7268A>G (p.Glu2423Gly) rs121434221
NM_000142.4(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_002312.3(LIG4):c.2440C>T (p.Arg814Ter) rs104894419
NM_002467.6(MYC):c.162G>C (p.Glu54Asp) rs121918684
NM_002467.6(MYC):c.214C>T (p.Pro72Ser) rs28933407
NM_002467.6(MYC):c.220C>G (p.Pro74Ala) rs121918685
NM_002467.6(MYC):c.302A>C (p.Asn101Thr) rs121918683
NM_003921.5(BCL10):c.163dup (p.Ile55fs) rs587776630
NM_003921.5(BCL10):c.231dup (p.Gly78fs) rs587776633
NM_003921.5(BCL10):c.345del (p.Gly116fs) rs587776631
NM_003921.5(BCL10):c.398dup (p.Ser134fs) rs587776636
NM_003921.5(BCL10):c.410del (p.Asn137fs) rs587776635
NM_003921.5(BCL10):c.427_428dup (p.Glu145fs) rs587776632
NM_003921.5(BCL10):c.499dup (p.Ser167fs) rs387906350
NM_003921.5(BCL10):c.525_541del (p.Val176fs) rs587776634
NM_003921.5(BCL10):c.629_631AAG[2] (p.Glu212del) rs587776637

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