List of variants reported as pathogenic for frontometaphyseal dysplasia

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 116

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HGVS	dbSNP	gnomAD frequency
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu)	rs137853312	0.00001
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)	rs797045044	0.00001
NC_000023.10:g.(?_152014869)_(155171615_?)del
NC_000023.10:g.(?_153577217)_(153583460_?)del
NC_000023.10:g.(?_153592874)_(153593874_?)del
NC_000023.10:g.(?_153595748)_(153596947_?)del
NC_000023.10:g.(?_153599231)_(153609567_?)del
NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter)	rs2067763458
NM_001110556.2(FLNA):c.1062_1063del (p.His354fs)
NM_001110556.2(FLNA):c.1065G>A (p.Lys355=)	rs1557179325
NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter)	rs2067761804
NM_001110556.2(FLNA):c.1112_1113dup (p.Val372fs)	rs2148118072
NM_001110556.2(FLNA):c.1119C>A (p.Tyr373Ter)
NM_001110556.2(FLNA):c.1133_1134del (p.Gln378fs)	rs1603362871
NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter)	rs2067760741
NM_001110556.2(FLNA):c.122G>A (p.Trp41Ter)
NM_001110556.2(FLNA):c.1414dup (p.Val472fs)
NM_001110556.2(FLNA):c.145_146del (p.Phe49fs)
NM_001110556.2(FLNA):c.1525_1528del (p.Gly509fs)
NM_001110556.2(FLNA):c.1653del (p.Ile551fs)
NM_001110556.2(FLNA):c.1699G>T (p.Glu567Ter)
NM_001110556.2(FLNA):c.1759G>T (p.Glu587Ter)	rs1447594194
NM_001110556.2(FLNA):c.1907G>A (p.Trp636Ter)	rs2148116288
NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs)	rs2067741257
NM_001110556.2(FLNA):c.2022+1G>A
NM_001110556.2(FLNA):c.2026_2029dup (p.Ala677fs)
NM_001110556.2(FLNA):c.2190_2193del (p.Tyr731fs)	rs863223630
NM_001110556.2(FLNA):c.2191_2192insGT (p.Tyr731fs)	rs2148115776
NM_001110556.2(FLNA):c.2283dup (p.Asn762fs)	rs2067723474
NM_001110556.2(FLNA):c.2371del (p.Tyr791fs)
NM_001110556.2(FLNA):c.2452del (p.Ala818fs)	rs1603361851
NM_001110556.2(FLNA):c.245A>T (p.Glu82Val)	rs28935169
NM_001110556.2(FLNA):c.2565+1G>A	rs786205186
NM_001110556.2(FLNA):c.259_260insG (p.Lys87fs)
NM_001110556.2(FLNA):c.2626A>T (p.Lys876Ter)
NM_001110556.2(FLNA):c.2751_2752dup (p.Asp918fs)	rs2148114051
NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter)	rs398123614
NM_001110556.2(FLNA):c.2947dup (p.Val983fs)	rs2148113628
NM_001110556.2(FLNA):c.2963_2964del (p.Asp988fs)	rs2148113604
NM_001110556.2(FLNA):c.2965C>T (p.Gln989Ter)	rs1557178045
NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs)	rs1603361195
NM_001110556.2(FLNA):c.334_335insGAGAACGTGTCGG (p.Glu112fs)	rs2148121859
NM_001110556.2(FLNA):c.3476A>C (p.Asp1159Ala)	rs28935471
NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter)	rs1557177738
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu)	rs28935473
NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu)	rs1060500716
NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter)	rs2067693064
NM_001110556.2(FLNA):c.3775C>T (p.Gln1259Ter)	rs1557177663
NM_001110556.2(FLNA):c.3814del (p.Arg1272fs)	rs1557177636
NM_001110556.2(FLNA):c.3827_3828del (p.Thr1276fs)
NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter)	rs1557177623
NM_001110556.2(FLNA):c.4138dup (p.Thr1380fs)	rs2148111417
NM_001110556.2(FLNA):c.4281del (p.Tyr1428fs)	rs2148111202
NM_001110556.2(FLNA):c.4543C>T (p.Arg1515Ter)	rs186214592
NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter)	rs781789823
NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs)	rs1557177086
NM_001110556.2(FLNA):c.506del (p.Lys169fs)
NM_001110556.2(FLNA):c.5084_5085del (p.Glu1695fs)
NM_001110556.2(FLNA):c.5146del (p.Gln1716fs)	rs1557176615
NM_001110556.2(FLNA):c.5160C>G (p.Tyr1720Ter)
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=)	rs387907371
NM_001110556.2(FLNA):c.5245C>T (p.Gln1749Ter)
NM_001110556.2(FLNA):c.5293C>T (p.Gln1765Ter)
NM_001110556.2(FLNA):c.5557+2T>G
NM_001110556.2(FLNA):c.5643del (p.Asn1881fs)	rs1569551502
NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter)	rs1359141531
NM_001110556.2(FLNA):c.577C>T (p.Gln193Ter)	rs2148119354
NM_001110556.2(FLNA):c.5810A>G (p.Lys1937Arg)
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp)	rs137853317
NM_001110556.2(FLNA):c.5879dup (p.Met1960fs)	rs1603359464
NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs)	rs1060500718
NM_001110556.2(FLNA):c.6173dup (p.His2058fs)
NM_001110556.2(FLNA):c.6204dup (p.Ile2069fs)
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu)	rs28935469
NM_001110556.2(FLNA):c.6227-1G>A
NM_001110556.2(FLNA):c.6318C>G (p.Tyr2106Ter)	rs2148104651
NM_001110556.2(FLNA):c.6329_6330del (p.Glu2110fs)	rs2148104615
NM_001110556.2(FLNA):c.6395_6396del (p.Val2132fs)
NM_001110556.2(FLNA):c.6496del (p.Ile2166fs)
NM_001110556.2(FLNA):c.6512dup (p.Gln2172fs)
NM_001110556.2(FLNA):c.656del (p.Ser219fs)	rs2148119182
NM_001110556.2(FLNA):c.6581del (p.Glu2194fs)
NM_001110556.2(FLNA):c.6586del (p.His2196fs)	rs2067626336
NM_001110556.2(FLNA):c.6635_6638del (p.Val2212fs)	rs786205178
NM_001110556.2(FLNA):c.6677dup (p.Gln2227fs)	rs2148103917
NM_001110556.2(FLNA):c.6709_6710dup (p.Ala2238fs)
NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter)	rs1060500717
NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter)	rs1569551861
NM_001110556.2(FLNA):c.6770_6774del (p.Ala2257fs)
NM_001110556.2(FLNA):c.6830dup (p.Ser2279fs)
NM_001110556.2(FLNA):c.6898C>T (p.Gln2300Ter)	rs2148103458
NM_001110556.2(FLNA):c.6923C>A (p.Ser2308Ter)
NM_001110556.2(FLNA):c.7005_7008del (p.Thr2336fs)	rs2148103004
NM_001110556.2(FLNA):c.7202del (p.Leu2401fs)
NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter)	rs782308324
NM_001110556.2(FLNA):c.7285_7286dup (p.Gly2430fs)	rs2148101228
NM_001110556.2(FLNA):c.7363_7364insCGTGAACACCA (p.Ser2455delinsThrTer)
NM_001110556.2(FLNA):c.7400dup (p.Asp2467fs)
NM_001110556.2(FLNA):c.7502del (p.Tyr2501fs)
NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys)	rs28935470
NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs)	rs2067602034
NM_001110556.2(FLNA):c.7636C>T (p.Gln2546Ter)
NM_001110556.2(FLNA):c.7676del (p.Lys2559fs)
NM_001110556.2(FLNA):c.7756+2T>A
NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs)	rs1557175195
NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs)	rs1603358246
NM_001110556.2(FLNA):c.7941_7942del (p.Ter2648SerextTer?)	rs863223636
NM_001110556.2(FLNA):c.812del (p.Pro271fs)	rs2148118964
NM_001110556.2(FLNA):c.829_835del (p.Arg276_Pro277insTer)	rs2148118942
NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg)	rs267606816
NM_001110556.2(FLNA):c.917_918del (p.Val306fs)
NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer)	rs1557179357
NM_145331.3(MAP3K7):c.1535C>T (p.Pro512Leu)	rs886039230
NM_145331.3(MAP3K7):c.208G>C (p.Glu70Gln)	rs886039231
NM_145331.3(MAP3K7):c.299T>A (p.Val100Glu)	rs886039232
NM_145331.3(MAP3K7):c.502G>C (p.Gly168Arg)	rs886039233

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