List of variants reported as uncertain significance for Pfeiffer syndrome by Invitae

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 183

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HGVS	dbSNP	gnomAD frequency
NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg)	rs200482627	0.00014
NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys)	rs767195580	0.00010
NM_023110.3(FGFR1):c.1520G>A (p.Arg507His)	rs369356672	0.00009
NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu)	rs201054877	0.00009
NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys)	rs781310679	0.00007
NM_023110.3(FGFR1):c.2399C>T (p.Pro800Leu)	rs377620009	0.00007
NM_023110.3(FGFR1):c.2292+3A>G	rs747737281	0.00006
NM_023110.3(FGFR1):c.2351G>A (p.Arg784Gln)	rs746602135	0.00005
NM_023110.3(FGFR1):c.1477G>A (p.Val493Met)	rs752601407	0.00004
NM_023110.3(FGFR1):c.566G>A (p.Arg189His)	rs778166317	0.00004
NM_023110.3(FGFR1):c.742G>A (p.Val248Met)	rs186746130	0.00004
NM_023110.3(FGFR1):c.1319G>A (p.Gly440Glu)	rs372654433	0.00003
NM_023110.3(FGFR1):c.1595T>C (p.Met532Thr)	rs777345476	0.00003
NM_023110.3(FGFR1):c.169C>A (p.Leu57Met)	rs1301127877	0.00003
NM_023110.3(FGFR1):c.181G>A (p.Val61Met)	rs762089291	0.00003
NM_023110.3(FGFR1):c.193A>C (p.Asn65His)	rs768919123	0.00002
NM_023110.3(FGFR1):c.2267G>A (p.Arg756His)	rs374473310	0.00002
NM_023110.3(FGFR1):c.322G>A (p.Gly108Ser)	rs1419947824	0.00002
NM_023110.3(FGFR1):c.451G>A (p.Val151Ile)	rs762665767	0.00002
NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu)	rs145434725	0.00002
NM_023110.3(FGFR1):c.1072G>A (p.Val358Ile)	rs774768179	0.00001
NM_023110.3(FGFR1):c.1078G>A (p.Glu360Lys)	rs982371464	0.00001
NM_023110.3(FGFR1):c.1100C>T (p.Ala367Val)	rs1324436328	0.00001
NM_023110.3(FGFR1):c.1114C>T (p.Pro372Ser)	rs377648976	0.00001
NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys)	rs1085307493	0.00001
NM_023110.3(FGFR1):c.1333C>T (p.Arg445Trp)	rs781608303	0.00001
NM_023110.3(FGFR1):c.1447C>T (p.Pro483Ser)	rs397515444	0.00001
NM_023110.3(FGFR1):c.1492A>G (p.Ile498Val)	rs767419329	0.00001
NM_023110.3(FGFR1):c.1554G>A (p.Ser518=)	rs199499923	0.00001
NM_023110.3(FGFR1):c.1558G>A (p.Ala520Thr)	rs749758370	0.00001
NM_023110.3(FGFR1):c.160C>T (p.Arg54Cys)	rs778531708	0.00001
NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys)	rs771720144	0.00001
NM_023110.3(FGFR1):c.1721A>G (p.Gln574Arg)	rs903239767	0.00001
NM_023110.3(FGFR1):c.173G>A (p.Arg58Gln)	rs200116660	0.00001
NM_023110.3(FGFR1):c.1774G>A (p.Glu592Lys)	rs755002934	0.00001
NM_023110.3(FGFR1):c.20T>G (p.Leu7Arg)	rs532741632	0.00001
NM_023110.3(FGFR1):c.2200C>T (p.Arg734Trp)	rs1329256283	0.00001
NM_023110.3(FGFR1):c.2272G>A (p.Val758Met)	rs527606454	0.00001
NM_023110.3(FGFR1):c.2292+6G>T	rs905873179	0.00001
NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp)	rs377149398	0.00001
NM_023110.3(FGFR1):c.2370_2371del (p.Glu792fs)	rs767698667	0.00001
NM_023110.3(FGFR1):c.2447A>G (p.Asn816Ser)	rs1815142188	0.00001
NM_023110.3(FGFR1):c.2452G>A (p.Gly818Arg)	rs17182456	0.00001
NM_023110.3(FGFR1):c.274G>A (p.Val92Met)	rs755828990	0.00001
NM_023110.3(FGFR1):c.332C>T (p.Thr111Ile)	rs775020833	0.00001
NM_023110.3(FGFR1):c.346G>A (p.Val116Ile)	rs747842199	0.00001
NM_023110.3(FGFR1):c.374C>T (p.Ser125Leu)	rs121913473	0.00001
NM_023110.3(FGFR1):c.381T>G (p.Asp127Glu)	rs750795714	0.00001
NM_023110.3(FGFR1):c.38T>C (p.Leu13Pro)	rs764533580	0.00001
NM_023110.3(FGFR1):c.448C>T (p.Pro150Ser)	rs746094709	0.00001
NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg)	rs770139002	0.00001
NM_023110.3(FGFR1):c.621+4C>T	rs750639887	0.00001
NM_023110.3(FGFR1):c.646A>G (p.Ile216Val)	rs763771933	0.00001
NM_023110.3(FGFR1):c.68C>T (p.Pro23Leu)	rs143341876	0.00001
NM_023110.3(FGFR1):c.81G>T (p.Leu27Phe)	rs1230569367	0.00001
NM_023110.3(FGFR1):c.8G>A (p.Ser3Asn)	rs751651299	0.00001
NM_023110.3(FGFR1):c.91+6G>T	rs886062921	0.00001
NC_000008.10:g.(?_37595441)_(38961219_?)dup
NC_000008.10:g.(?_38275830)_(38277082_?)del
NC_000008.10:g.(?_38314854)_(38314964_?)dup
NM_023110.3(FGFR1):c.1019C>T (p.Thr340Met)	rs1064793123
NM_023110.3(FGFR1):c.1064G>C (p.Trp355Ser)	rs1563474845
NM_023110.3(FGFR1):c.106G>A (p.Ala36Thr)	rs2150966948
NM_023110.3(FGFR1):c.1167C>T (p.Cys389=)	rs1338926241
NM_023110.3(FGFR1):c.1168A>G (p.Met390Val)	rs376921992
NM_023110.3(FGFR1):c.1229G>A (p.Ser410Asn)
NM_023110.3(FGFR1):c.1231C>A (p.Gln411Lys)	rs1817962450
NM_023110.3(FGFR1):c.1244A>G (p.His415Arg)	rs2150706408
NM_023110.3(FGFR1):c.1253C>T (p.Ala418Val)
NM_023110.3(FGFR1):c.1256A>G (p.Lys419Arg)	rs1232639613
NM_023110.3(FGFR1):c.1270C>T (p.Arg424Cys)
NM_023110.3(FGFR1):c.1271G>A (p.Arg424His)
NM_023110.3(FGFR1):c.1274G>A (p.Arg425Lys)
NM_023110.3(FGFR1):c.1289C>T (p.Ser430Phe)
NM_023110.3(FGFR1):c.1328T>C (p.Leu443Pro)
NM_023110.3(FGFR1):c.1343G>A (p.Arg448Gln)	rs758138124
NM_023110.3(FGFR1):c.1343G>T (p.Arg448Leu)	rs758138124
NM_023110.3(FGFR1):c.1349C>T (p.Ser450Phe)	rs2150675272
NM_023110.3(FGFR1):c.1352C>G (p.Ser451Cys)
NM_023110.3(FGFR1):c.1376G>T (p.Gly459Val)
NM_023110.3(FGFR1):c.1409G>A (p.Arg470His)	rs121909637
NM_023110.3(FGFR1):c.140C>T (p.Pro47Leu)
NM_023110.3(FGFR1):c.1430+4A>G
NM_023110.3(FGFR1):c.147C>T (p.Asp49=)
NM_023110.3(FGFR1):c.1494C>A (p.Ile498=)
NM_023110.3(FGFR1):c.1519C>T (p.Arg507Cys)
NM_023110.3(FGFR1):c.1520G>T (p.Arg507Leu)
NM_023110.3(FGFR1):c.1540A>C (p.Lys514Gln)	rs199573818
NM_023110.3(FGFR1):c.1552+5G>A
NM_023110.3(FGFR1):c.1552T>G (p.Ser518Ala)
NM_023110.3(FGFR1):c.1553C>T (p.Ser518Leu)
NM_023110.3(FGFR1):c.1592_1594del (p.Glu531_Met532delinsVal)
NM_023110.3(FGFR1):c.1600A>G (p.Met534Val)
NM_023110.3(FGFR1):c.164G>A (p.Cys55Tyr)	rs2150964150
NM_023110.3(FGFR1):c.1655C>G (p.Thr552Arg)	rs760702592
NM_023110.3(FGFR1):c.1678A>G (p.Ile560Val)	rs2150591908
NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe)	rs768223019
NM_023110.3(FGFR1):c.1697A>G (p.Lys566Arg)	rs531903077
NM_023110.3(FGFR1):c.1703A>G (p.Asn568Ser)
NM_023110.3(FGFR1):c.172C>T (p.Arg58Trp)	rs1162148796
NM_023110.3(FGFR1):c.1759C>T (p.Pro587Ser)
NM_023110.3(FGFR1):c.1771C>A (p.Pro591Thr)	rs2150585866
NM_023110.3(FGFR1):c.1775A>G (p.Glu592Gly)
NM_023110.3(FGFR1):c.1795G>A (p.Asp599Asn)
NM_023110.3(FGFR1):c.179A>T (p.Asp60Val)
NM_023110.3(FGFR1):c.179_208del (p.Asp60_Asp69del)	rs1387712427
NM_023110.3(FGFR1):c.17G>C (p.Cys6Ser)
NM_023110.3(FGFR1):c.1825C>G (p.Arg609Gly)
NM_023110.3(FGFR1):c.1854+15_1854+31del
NM_023110.3(FGFR1):c.1854+17C>G
NM_023110.3(FGFR1):c.1854+7A>T
NM_023110.3(FGFR1):c.1865G>A (p.Arg622Gln)	rs1815818452
NM_023110.3(FGFR1):c.1907T>A (p.Val636Glu)	rs2150563316
NM_023110.3(FGFR1):c.1919C>T (p.Ala640Val)	rs1815800575
NM_023110.3(FGFR1):c.1922A>G (p.Asp641Gly)
NM_023110.3(FGFR1):c.1931T>G (p.Leu644Arg)
NM_023110.3(FGFR1):c.1954G>A (p.Asp652Asn)
NM_023110.3(FGFR1):c.1977C>T (p.Asn659=)
NM_023110.3(FGFR1):c.2024G>A (p.Arg675Gln)
NM_023110.3(FGFR1):c.2024G>C (p.Arg675Pro)	rs771078736
NM_023110.3(FGFR1):c.2026A>T (p.Ile676Phe)	rs2150549553
NM_023110.3(FGFR1):c.2051G>C (p.Trp684Ser)
NM_023110.3(FGFR1):c.205G>A (p.Asp69Asn)
NM_023110.3(FGFR1):c.2075A>G (p.Glu692Gly)	rs397515445
NM_023110.3(FGFR1):c.2089G>C (p.Gly697Arg)
NM_023110.3(FGFR1):c.2107G>A (p.Gly703Ser)
NM_023110.3(FGFR1):c.2168G>A (p.Ser723Asn)
NM_023110.3(FGFR1):c.2172C>G (p.Asn724Lys)	rs267606806
NM_023110.3(FGFR1):c.2187-13A>G
NM_023110.3(FGFR1):c.2251G>A (p.Val751Met)	rs2150520798
NM_023110.3(FGFR1):c.2251G>C (p.Val751Leu)
NM_023110.3(FGFR1):c.2266C>T (p.Arg756Cys)
NM_023110.3(FGFR1):c.2302G>A (p.Asp768Asn)
NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu)	rs1232665126
NM_023110.3(FGFR1):c.2344G>A (p.Asp782Asn)
NM_023110.3(FGFR1):c.2348C>T (p.Thr783Ile)
NM_023110.3(FGFR1):c.2356T>G (p.Ser786Ala)
NM_023110.3(FGFR1):c.236C>A (p.Thr79Asn)
NM_023110.3(FGFR1):c.238C>T (p.Arg80Cys)
NM_023110.3(FGFR1):c.2393A>C (p.His798Pro)	rs755160898
NM_023110.3(FGFR1):c.2394_2395del (p.His798fs)
NM_023110.3(FGFR1):c.2407G>A (p.Glu803Lys)
NM_023110.3(FGFR1):c.2425C>T (p.Arg809Ter)
NM_023110.3(FGFR1):c.2428C>A (p.His810Asn)	rs759376422
NM_023110.3(FGFR1):c.2432C>G (p.Pro811Arg)
NM_023110.3(FGFR1):c.245C>T (p.Thr82Ile)
NM_023110.3(FGFR1):c.2461C>T (p.Arg821Cys)
NM_023110.3(FGFR1):c.2464C>A (p.Arg822Ser)
NM_023110.3(FGFR1):c.256G>A (p.Val86Met)	rs1404670039
NM_023110.3(FGFR1):c.268G>T (p.Asp90Tyr)
NM_023110.3(FGFR1):c.281C>A (p.Ala94Glu)
NM_023110.3(FGFR1):c.292C>T (p.Leu98Phe)
NM_023110.3(FGFR1):c.295T>C (p.Tyr99His)	rs1822219907
NM_023110.3(FGFR1):c.316C>T (p.Pro106Ser)
NM_023110.3(FGFR1):c.335C>G (p.Thr112Ser)
NM_023110.3(FGFR1):c.338A>G (p.Tyr113Cys)
NM_023110.3(FGFR1):c.341T>C (p.Phe114Ser)	rs2150955298
NM_023110.3(FGFR1):c.362C>T (p.Ala121Val)
NM_023110.3(FGFR1):c.371C>T (p.Ser124Phe)
NM_023110.3(FGFR1):c.381TGA[7] (p.Asp133dup)	rs138489552
NM_023110.3(FGFR1):c.389A>T (p.Asp130Val)	rs1161536828
NM_023110.3(FGFR1):c.397_399dup (p.Asp133_Ser134insAsp)
NM_023110.3(FGFR1):c.399C>A (p.Asp133Glu)
NM_023110.3(FGFR1):c.404C>T (p.Ser135Phe)
NM_023110.3(FGFR1):c.425A>T (p.Asp142Val)
NM_023110.3(FGFR1):c.449-4dup
NM_023110.3(FGFR1):c.454G>C (p.Ala152Pro)	rs1033377277
NM_023110.3(FGFR1):c.506C>T (p.Pro169Leu)	rs1413642890
NM_023110.3(FGFR1):c.523A>G (p.Lys175Glu)
NM_023110.3(FGFR1):c.532T>C (p.Cys178Arg)	rs2150914598
NM_023110.3(FGFR1):c.557C>G (p.Pro186Arg)	rs2150912609
NM_023110.3(FGFR1):c.617A>G (p.Tyr206Cys)
NM_023110.3(FGFR1):c.621+5G>A
NM_023110.3(FGFR1):c.64A>G (p.Arg22Gly)
NM_023110.3(FGFR1):c.658G>C (p.Val220Leu)
NM_023110.3(FGFR1):c.662T>A (p.Val221Glu)
NM_023110.3(FGFR1):c.719A>G (p.Asn240Ser)
NM_023110.3(FGFR1):c.77C>A (p.Thr26Asn)	rs1833133571
NM_023110.3(FGFR1):c.823T>G (p.Phe275Val)
NM_023110.3(FGFR1):c.82C>T (p.Pro28Ser)
NM_023110.3(FGFR1):c.877A>G (p.Ile293Val)
NM_023110.3(FGFR1):c.92-19G>A	rs753723806
NM_023110.3(FGFR1):c.991G>T (p.Val331Phe)

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