ClinVar Miner

List of variants reported as uncertain significance for acrocephalosyndactyly by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 131
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HGVS dbSNP
NC_000010.11:g.121478318G>T
NM_000141.5(FGFR2):c.*1070T>C rs886046761
NM_000141.5(FGFR2):c.*1126T>C rs370106008
NM_000141.5(FGFR2):c.*1240A>C
NM_000141.5(FGFR2):c.*1283C>G
NM_000141.5(FGFR2):c.*1287A>C rs886046760
NM_000141.5(FGFR2):c.*1369C>T rs886046759
NM_000141.5(FGFR2):c.*1402T>C rs886046758
NM_000141.5(FGFR2):c.*1489C>T rs886046757
NM_000141.5(FGFR2):c.*256G>A
NM_000141.5(FGFR2):c.*463A>G
NM_000141.5(FGFR2):c.*497T>C rs3135827
NM_000141.5(FGFR2):c.*674G>T rs566155088
NM_000141.5(FGFR2):c.*730G>C
NM_000141.5(FGFR2):c.*736dup rs886046762
NM_000141.5(FGFR2):c.*874A>G
NM_000141.5(FGFR2):c.*921G>A rs185617859
NM_000141.5(FGFR2):c.-108C>T
NM_000141.5(FGFR2):c.-128G>A rs547739869
NM_000141.5(FGFR2):c.-129C>T rs886046765
NM_000141.5(FGFR2):c.-165G>A rs886046766
NM_000141.5(FGFR2):c.-173G>A
NM_000141.5(FGFR2):c.-17G>C
NM_000141.5(FGFR2):c.-196G>A
NM_000141.5(FGFR2):c.-206C>A
NM_000141.5(FGFR2):c.-237C>A
NM_000141.5(FGFR2):c.-371C>T rs527570655
NM_000141.5(FGFR2):c.-535G>C rs886046767
NM_000141.5(FGFR2):c.-590G>C
NM_000141.5(FGFR2):c.-603C>T
NM_000141.5(FGFR2):c.-622G>A rs886046768
NM_000141.5(FGFR2):c.1093A>C (p.Arg365=)
NM_000141.5(FGFR2):c.1167C>G (p.Ala389=)
NM_000141.5(FGFR2):c.1179A>T (p.Val393=) rs886046763
NM_000141.5(FGFR2):c.1485G>T (p.Val495=)
NM_000141.5(FGFR2):c.1539C>A (p.Thr513=) rs74160617
NM_000141.5(FGFR2):c.1562A>G (p.Asp521Gly)
NM_000141.5(FGFR2):c.201C>T (p.Ala67=)
NM_000141.5(FGFR2):c.2045A>G (p.His682Arg)
NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys) rs764959117
NM_000141.5(FGFR2):c.625-8C>T
NM_000141.5(FGFR2):c.714G>A (p.Gly238=) rs1276387170
NM_000141.5(FGFR2):c.772C>T (p.Leu258Phe)
NM_000141.5(FGFR2):c.780C>T (p.Ala260=) rs778288494
NM_000141.5(FGFR2):c.91A>T (p.Thr31Ser)
NM_016277.5(RAB23):c.*1052T>C
NM_016277.5(RAB23):c.*1131C>G
NM_016277.5(RAB23):c.*117A>G
NM_016277.5(RAB23):c.*1180_*1183ATCA[3] rs139778770
NM_016277.5(RAB23):c.*1251G>A rs182662
NM_016277.5(RAB23):c.*145T>C rs189570356
NM_016277.5(RAB23):c.*1494A>G
NM_016277.5(RAB23):c.*1534T>G
NM_016277.5(RAB23):c.*1536T>G
NM_016277.5(RAB23):c.*1665_*1667dup rs886061651
NM_016277.5(RAB23):c.*1817A>G
NM_016277.5(RAB23):c.*2008G>A
NM_016277.5(RAB23):c.*2067A>G
NM_016277.5(RAB23):c.*2245T>C
NM_016277.5(RAB23):c.*2319T>C
NM_016277.5(RAB23):c.*2341C>A
NM_016277.5(RAB23):c.*2586G>A
NM_016277.5(RAB23):c.*2681G>A
NM_016277.5(RAB23):c.*2753G>A
NM_016277.5(RAB23):c.*2769C>A
NM_016277.5(RAB23):c.*2876T>C
NM_016277.5(RAB23):c.*3033C>T
NM_016277.5(RAB23):c.*3129G>C
NM_016277.5(RAB23):c.*3298A>G
NM_016277.5(RAB23):c.*544G>A rs138311113
NM_016277.5(RAB23):c.*600_*603AATT[1] rs886061654
NM_016277.5(RAB23):c.*618A>G rs886061653
NM_016277.5(RAB23):c.*722T>C rs143345846
NM_016277.5(RAB23):c.*735T>G rs886061652
NM_016277.5(RAB23):c.*795G>A
NM_016277.5(RAB23):c.*81G>T
NM_016277.5(RAB23):c.*850A>G
NM_016277.5(RAB23):c.*920C>G rs530900959
NM_016277.5(RAB23):c.-49C>T rs45474592
NM_016277.5(RAB23):c.123C>T (p.Thr41=)
NM_016277.5(RAB23):c.156-9T>C
NM_016277.5(RAB23):c.223A>T (p.Thr75Ser)
NM_016277.5(RAB23):c.239G>A (p.Arg80Gln) rs145669565
NM_016277.5(RAB23):c.242-31ATTG[6] rs45542438
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896
NM_016277.5(RAB23):c.389G>C (p.Cys130Ser)
NM_016277.5(RAB23):c.398+9G>A rs376839366
NM_016277.5(RAB23):c.399-14A>T
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) rs150440590
NM_016277.5(RAB23):c.54A>G (p.Gly18=) rs767442221
NM_016277.5(RAB23):c.616T>A (p.Ser206Thr) rs202181599
NM_016277.5(RAB23):c.664C>G (p.Gln222Glu)
NM_016277.5(RAB23):c.670A>T (p.Thr224Ser)
NM_016277.5(RAB23):c.714A>G (p.Ter238=) rs142290596
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042
NM_016277.5(RAB23):c.93A>G (p.Lys31=)
NM_022970.3(FGFR2):c.110-22TC[3] rs773932794
NM_022970.3(FGFR2):c.1565-11A>G rs41293744
NM_022970.3(FGFR2):c.204C>T (p.Ala68=) rs747982371
NM_022970.3(FGFR2):c.351T>C (p.Thr117=) rs886046764
NM_023110.2(FGFR1):c.*1144G>A rs886062911
NM_023110.2(FGFR1):c.*118C>T rs886062916
NM_023110.2(FGFR1):c.*1218T>C rs886062910
NM_023110.2(FGFR1):c.*1286C>T rs886062909
NM_023110.2(FGFR1):c.*14G>A rs371776128
NM_023110.2(FGFR1):c.*1560C>T rs761096092
NM_023110.2(FGFR1):c.*1616T>G rs886062908
NM_023110.2(FGFR1):c.*1965G>A rs886062907
NM_023110.2(FGFR1):c.*2407C>T rs758524862
NM_023110.2(FGFR1):c.*313T>C rs886062915
NM_023110.2(FGFR1):c.*313T>G rs886062915
NM_023110.2(FGFR1):c.*494A>G rs562843836
NM_023110.2(FGFR1):c.*70C>T rs886062918
NM_023110.2(FGFR1):c.*71A>G rs886062917
NM_023110.2(FGFR1):c.*762A>G rs886062914
NM_023110.2(FGFR1):c.*845T>C rs886062913
NM_023110.2(FGFR1):c.*906A>T rs139347382
NM_023110.2(FGFR1):c.*913G>A rs886062912
NM_023110.2(FGFR1):c.*958G>A rs537880800
NM_023110.2(FGFR1):c.1368G>T (p.Met456Ile) rs200776757
NM_023110.2(FGFR1):c.1430+13T>C rs763815221
NM_023110.2(FGFR1):c.1615G>A (p.Gly539Arg) rs201158796
NM_023110.2(FGFR1):c.2293-11G>A rs886062919
NM_023110.2(FGFR1):c.2465G>A (p.Arg822His) rs758677681
NM_023110.2(FGFR1):c.415A>G (p.Lys139Glu) rs201054877
NM_023110.2(FGFR1):c.449-7C>T rs754454127
NM_023110.2(FGFR1):c.549C>T (p.Thr183=) rs886062920
NM_023110.2(FGFR1):c.663G>T (p.Val221=) rs766451294
NM_023110.2(FGFR1):c.75G>A (p.Pro25=) rs17175757
NM_023110.2(FGFR1):c.787G>A (p.Ala263Thr) rs747978107
NM_023110.2(FGFR1):c.91+6G>T rs886062921

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