ClinVar Miner

List of variants reported as pathogenic for Jackson-Weiss syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000141.4(FGFR2):c.1024T>A (p.Cys342Ser) rs121918488
NM_000141.4(FGFR2):c.1024T>C (p.Cys342Arg) rs121918488
NM_000141.4(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.4(FGFR2):c.1025G>C (p.Cys342Ser) rs121918487
NM_000141.4(FGFR2):c.1025G>T (p.Cys342Phe) rs121918487
NM_000141.4(FGFR2):c.1031C>G (p.Ala344Gly) rs121918492
NM_000141.4(FGFR2):c.1032G>A (p.Ala344=) rs121918491
NM_000141.4(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.4(FGFR2):c.1150G>A (p.Gly384Arg) rs1554927408
NM_000141.4(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_000141.4(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.4(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.4(FGFR2):c.866A>C (p.Gln289Pro) rs121918497
NM_023110.2(FGFR1):c.755C>G (p.Pro252Arg) rs121909627

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