List of variants in gene FKTN reported as uncertain significance by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 99

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HGVS	dbSNP	gnomAD frequency
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg)	rs148975262	0.00051
NM_001079802.2(FKTN):c.25G>T (p.Val9Phe)	rs145387221	0.00032
NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln)	rs146049441	0.00014
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser)	rs374912618	0.00013
NM_001079802.2(FKTN):c.1102T>C (p.Phe368Leu)	rs374381691	0.00008
NM_001079802.2(FKTN):c.1212T>G (p.Phe404Leu)	rs776724595	0.00007
NM_001079802.2(FKTN):c.869A>T (p.Lys290Ile)	rs755092516	0.00006
NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln)	rs143748939	0.00005
NM_001079802.2(FKTN):c.877G>C (p.Val293Leu)	rs146900302	0.00004
NM_001079802.2(FKTN):c.1249G>A (p.Glu417Lys)	rs765934383	0.00003
NM_001079802.2(FKTN):c.1357G>A (p.Glu453Lys)	rs759936979	0.00003
NM_001079802.2(FKTN):c.140G>A (p.Arg47Gln)	rs753641411	0.00003
NM_001079802.2(FKTN):c.247A>G (p.Ile83Val)	rs757798867	0.00003
NM_001079802.2(FKTN):c.1046T>C (p.Val349Ala)	rs539089647	0.00002
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)	rs119464998	0.00002
NM_001079802.2(FKTN):c.1333C>G (p.Pro445Ala)	rs781465422	0.00002
NM_001079802.2(FKTN):c.188T>C (p.Met63Thr)	rs772840681	0.00002
NM_001079802.2(FKTN):c.1009G>T (p.Asp337Tyr)	rs752721354	0.00001
NM_001079802.2(FKTN):c.1174T>C (p.Tyr392His)	rs752191412	0.00001
NM_001079802.2(FKTN):c.1178T>C (p.Leu393Pro)	rs374962879	0.00001
NM_001079802.2(FKTN):c.1186A>C (p.Lys396Gln)	rs1477740717	0.00001
NM_001079802.2(FKTN):c.1268A>G (p.Tyr423Cys)	rs938689811	0.00001
NM_001079802.2(FKTN):c.1283A>G (p.Lys428Arg)	rs1833937117	0.00001
NM_001079802.2(FKTN):c.1380dup (p.Tyr461fs)	rs775366895	0.00001
NM_001079802.2(FKTN):c.13A>G (p.Asn5Asp)	rs765929865	0.00001
NM_001079802.2(FKTN):c.143T>C (p.Ile48Thr)	rs886044478	0.00001
NM_001079802.2(FKTN):c.154A>G (p.Ser52Gly)	rs1064796459	0.00001
NM_001079802.2(FKTN):c.277A>G (p.Thr93Ala)	rs886063319	0.00001
NM_001079802.2(FKTN):c.292A>G (p.Thr98Ala)	rs758798692	0.00001
NM_001079802.2(FKTN):c.366T>G (p.Asn122Lys)	rs150591365	0.00001
NM_001079802.2(FKTN):c.382C>T (p.Arg128Trp)	rs767026996	0.00001
NM_001079802.2(FKTN):c.389C>T (p.Ala130Val)	rs752196884	0.00001
NM_001079802.2(FKTN):c.436C>T (p.Arg146Trp)	rs1208639233	0.00001
NM_001079802.2(FKTN):c.443A>G (p.Asp148Gly)	rs773305645	0.00001
NM_001079802.2(FKTN):c.545A>G (p.Asn182Ser)	rs760170065	0.00001
NM_001079802.2(FKTN):c.584T>C (p.Ile195Thr)	rs753503050	0.00001
NM_001079802.2(FKTN):c.685G>A (p.Val229Ile)	rs772111890	0.00001
NM_001079802.2(FKTN):c.755A>T (p.Tyr252Phe)	rs574626895	0.00001
NM_001079802.2(FKTN):c.7A>G (p.Arg3Gly)	rs1037406947	0.00001
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp)	rs558187116	0.00001
NM_001079802.2(FKTN):c.895A>C (p.Ser299Arg)	rs367662190	0.00001
NM_001079802.2(FKTN):c.1009G>A (p.Asp337Asn)
NM_001079802.2(FKTN):c.1034A>G (p.Lys345Arg)
NM_001079802.2(FKTN):c.1045-3T>A
NM_001079802.2(FKTN):c.106-2A>C
NM_001079802.2(FKTN):c.1088T>G (p.Val363Gly)	rs1362238936
NM_001079802.2(FKTN):c.10A>T (p.Ile4Phe)
NM_001079802.2(FKTN):c.1119A>C (p.Glu373Asp)	rs371776972
NM_001079802.2(FKTN):c.1149G>C (p.Gln383His)
NM_001079802.2(FKTN):c.1185G>T (p.Pro395=)	rs141886790
NM_001079802.2(FKTN):c.1196T>C (p.Leu399Pro)	rs1833923288
NM_001079802.2(FKTN):c.1250A>T (p.Glu417Val)	rs543684877
NM_001079802.2(FKTN):c.1255A>G (p.Ile419Val)	rs2133451721
NM_001079802.2(FKTN):c.1259A>T (p.Glu420Val)
NM_001079802.2(FKTN):c.1313G>T (p.Arg438Leu)
NM_001079802.2(FKTN):c.1325A>T (p.Asn442Ile)
NM_001079802.2(FKTN):c.1355C>T (p.Ser452Phe)
NM_001079802.2(FKTN):c.153T>G (p.Asp51Glu)
NM_001079802.2(FKTN):c.214G>T (p.Val72Leu)
NM_001079802.2(FKTN):c.220C>A (p.Leu74Ile)	rs1060501407
NM_001079802.2(FKTN):c.223A>G (p.Ile75Val)	rs1827816995
NM_001079802.2(FKTN):c.22G>T (p.Val8Leu)	rs368981218
NM_001079802.2(FKTN):c.278C>T (p.Thr93Ile)
NM_001079802.2(FKTN):c.290C>G (p.Ser97Cys)
NM_001079802.2(FKTN):c.293C>G (p.Thr98Ser)	rs376452959
NM_001079802.2(FKTN):c.335C>T (p.Ala112Val)
NM_001079802.2(FKTN):c.350A>C (p.Tyr117Ser)
NM_001079802.2(FKTN):c.374G>A (p.Gly125Asp)	rs142783718
NM_001079802.2(FKTN):c.374G>C (p.Gly125Ala)	rs142783718
NM_001079802.2(FKTN):c.374G>T (p.Gly125Val)	rs142783718
NM_001079802.2(FKTN):c.394A>G (p.Asn132Asp)	rs2132791236
NM_001079802.2(FKTN):c.408G>C (p.Gln136His)
NM_001079802.2(FKTN):c.419T>C (p.Ile140Thr)
NM_001079802.2(FKTN):c.457C>G (p.Leu153Val)	rs977350409
NM_001079802.2(FKTN):c.479T>C (p.Leu160Pro)
NM_001079802.2(FKTN):c.487A>G (p.Ile163Val)
NM_001079802.2(FKTN):c.506A>G (p.His169Arg)
NM_001079802.2(FKTN):c.509C>T (p.Ala170Val)
NM_001079802.2(FKTN):c.557A>G (p.His186Arg)	rs1448279636
NM_001079802.2(FKTN):c.569G>A (p.Arg190Lys)	rs760967116
NM_001079802.2(FKTN):c.619T>G (p.Phe207Val)	rs1461669175
NM_001079802.2(FKTN):c.623G>A (p.Gly208Asp)	rs778048703
NM_001079802.2(FKTN):c.625C>T (p.Arg209Cys)	rs749576551
NM_001079802.2(FKTN):c.647G>A (p.Arg216Lys)	rs1828504500
NM_001079802.2(FKTN):c.648-4T>C	rs1829177357
NM_001079802.2(FKTN):c.653A>T (p.Glu218Val)	rs978338266
NM_001079802.2(FKTN):c.664G>A (p.Val222Ile)	rs1293245717
NM_001079802.2(FKTN):c.694C>T (p.Pro232Ser)	rs1034968484
NM_001079802.2(FKTN):c.731A>G (p.His244Arg)
NM_001079802.2(FKTN):c.757A>G (p.Lys253Glu)	rs886044467
NM_001079802.2(FKTN):c.767G>A (p.Arg256Gln)
NM_001079802.2(FKTN):c.835G>A (p.Glu279Lys)
NM_001079802.2(FKTN):c.836A>G (p.Glu279Gly)
NM_001079802.2(FKTN):c.841C>G (p.Leu281Val)	rs199697041
NM_001079802.2(FKTN):c.89A>G (p.His30Arg)
NM_001079802.2(FKTN):c.907C>A (p.Leu303Ile)
NM_001079802.2(FKTN):c.917A>G (p.Tyr306Cys)
NM_001079802.2(FKTN):c.941A>G (p.Tyr314Cys)	rs1451453111
NM_001079802.2(FKTN):c.970A>C (p.Ile324Leu)

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