"Ambry Genetics"[submitter] AND "FKTN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 407111	NM_001079802.2(FKTN):c.7A>G (p.Arg3Gly)	FKTN (R3G)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +6 more	GUncertain significance
Select item 2441454	NM_001079802.2(FKTN):c.10A>T (p.Ile4Phe)	FKTN (I4F)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 575410	NM_001079802.2(FKTN):c.13A>G (p.Asn5Asp)	FKTN (N5D)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 264150	NM_001079802.2(FKTN):c.22G>T (p.Val8Leu)	FKTN (V8L)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 162566	NM_001079802.2(FKTN):c.25G>T (p.Val9Phe)	FKTN (V9F)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 1796211	NM_001079802.2(FKTN):c.27T>G (p.Val9=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 93521	NM_001079802.2(FKTN):c.42G>A (p.Thr14=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy +3 more	GBenign
Select item 1137007	NM_001079802.2(FKTN):c.57A>G (p.Ala19=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GLikely benign
Select item 285459	NM_001079802.2(FKTN):c.63G>C (p.Leu21=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 414299	NM_001079802.2(FKTN):c.75G>A (p.Leu25=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1765394	NM_001079802.2(FKTN):c.89A>G (p.His30Arg)	FKTN (H30R)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 380678	NM_001079802.2(FKTN):c.102A>C (p.Thr34=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GLikely benign
Select item 1780544	NM_001079802.2(FKTN):c.106-2A>C	FKTN	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 3200	NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter)	FKTN (R47*)	Single nucleotide variant (nonsense +2 more)	Cardiovascular phenotype +4 more	GPathogenic
Select item 643980	NM_001079802.2(FKTN):c.140G>A (p.Arg47Gln)	FKTN (R47Q)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +7 more	GUncertain significance
Select item 290533	NM_001079802.2(FKTN):c.143T>C (p.Ile48Thr)	FKTN (I48T)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +2 more	GUncertain significance
Select item 1774830	NM_001079802.2(FKTN):c.153T>G (p.Asp51Glu)	FKTN (D51E)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 423489	NM_001079802.2(FKTN):c.154A>G (p.Ser52Gly)	FKTN (S52G)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 36140	NM_001079802.2(FKTN):c.166-6A>G	FKTN	Single nucleotide variant (intron variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 93517	NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys)	FKTN (R56C +1 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 93518	NM_001079802.2(FKTN):c.167G>A (p.Arg56His)	FKTN (R56H +1 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 1447515	NM_001079802.2(FKTN):c.188T>C (p.Met63Thr)	FKTN (M40T +1 more)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +7 more	GUncertain significance
Select item 701478	NM_001079802.2(FKTN):c.207T>C (p.Asn69=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 1786728	NM_001079802.2(FKTN):c.214G>T (p.Val72Leu)	FKTN (V72L +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 407109	NM_001079802.2(FKTN):c.220C>A (p.Leu74Ile)	FKTN (L74I +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 940022	NM_001079802.2(FKTN):c.223A>G (p.Ile75Val)	FKTN (I52V +1 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 951821	NM_001079802.2(FKTN):c.247A>G (p.Ile83Val)	FKTN (I60V +1 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 364487	NM_001079802.2(FKTN):c.277A>G (p.Thr93Ala)	FKTN (T93A +1 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +3 more	GUncertain significance
Select item 1796017	NM_001079802.2(FKTN):c.278C>T (p.Thr93Ile)	FKTN (T93I +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 379745	NM_001079802.2(FKTN):c.285T>C (p.His95=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1797561	NM_001079802.2(FKTN):c.290C>G (p.Ser97Cys)	FKTN (S97C +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 650653	NM_001079802.2(FKTN):c.292A>G (p.Thr98Ala)	FKTN (T75A +1 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 459221	NM_001079802.2(FKTN):c.293C>G (p.Thr98Ser)	FKTN (T98S +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 497230	NM_001079802.2(FKTN):c.333T>C (p.Thr111=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1730588	NM_001079802.2(FKTN):c.335C>T (p.Ala112Val)	FKTN (A89V +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 499924	NM_001079802.2(FKTN):c.342A>G (p.Ala114=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1732136	NM_001079802.2(FKTN):c.350A>C (p.Tyr117Ser)	FKTN (Y94S +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 501555	NM_001079802.2(FKTN):c.357A>G (p.Leu119=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 288661	NM_001079802.2(FKTN):c.366T>G (p.Asn122Lys)	FKTN (N122K +1 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +5 more	GUncertain significance
Select item 3211	NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser)	FKTN (G125S +1 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +4 more	GBenign/Likely benign
Select item 1407671	NM_001079802.2(FKTN):c.374G>C (p.Gly125Ala)	FKTN (G102A +1 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +2 more	GUncertain significance
Select item 850972	NM_001079802.2(FKTN):c.374G>A (p.Gly125Asp)	FKTN (G102D +1 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 288016	NM_001079802.2(FKTN):c.374G>T (p.Gly125Val)	FKTN (G125V +1 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +4 more	GUncertain significance
Select item 264196	NM_001079802.2(FKTN):c.382C>T (p.Arg128Trp)	FKTN (R128W +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 286471	NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln)	FKTN (R128Q +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +7 more	GUncertain significance
Select item 1371170	NM_001079802.2(FKTN):c.389C>T (p.Ala130Val)	FKTN (A130V +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 593662	NM_001079802.2(FKTN):c.393G>A (p.Glu131=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1364676	NM_001079802.2(FKTN):c.394A>G (p.Asn132Asp)	FKTN (N132D +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 283752	NM_001079802.2(FKTN):c.402A>T (p.Gly134=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1737725	NM_001079802.2(FKTN):c.408G>C (p.Gln136His)	FKTN (Q113H +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1738626	NM_001079802.2(FKTN):c.419T>C (p.Ile140Thr)	FKTN (I8T +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 944896	NM_001079802.2(FKTN):c.436C>T (p.Arg146Trp)	FKTN (R146W +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 283759	NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln)	FKTN (R146Q +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 1153931	NM_001079802.2(FKTN):c.438G>T (p.Arg146=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 286032	NM_001079802.2(FKTN):c.443A>G (p.Asp148Gly)	FKTN (D148G +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +2 more	GUncertain significance
Select item 518943	NM_001079802.2(FKTN):c.444C>T (p.Asp148=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 518910	NM_001079802.2(FKTN):c.457C>G (p.Leu153Val)	FKTN (L153V +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2081845	NM_001079802.2(FKTN):c.479T>C (p.Leu160Pro)	FKTN (L137P +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 1743756	NM_001079802.2(FKTN):c.487A>G (p.Ile163Val)	FKTN (I140V +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1745140	NM_001079802.2(FKTN):c.506A>G (p.His169Arg)	FKTN (H37R +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +4 more	GUncertain significance
Select item 1745318	NM_001079802.2(FKTN):c.509C>T (p.Ala170Val)	FKTN (A38V +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 518937	NM_001079802.2(FKTN):c.510G>A (p.Ala170=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1745593	NM_001079802.2(FKTN):c.513C>T (p.Ile171=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 646747	NM_001079802.2(FKTN):c.545A>G (p.Asn182Ser)	FKTN (N159S +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 554414	NM_001079802.2(FKTN):c.557A>G (p.His186Arg)	FKTN (H186R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 706445	NM_001079802.2(FKTN):c.558C>T (p.His186=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy +1 more	GLikely benign
Select item 658040	NM_001079802.2(FKTN):c.569G>A (p.Arg190Lys)	FKTN (R167K +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 643177	NM_001079802.2(FKTN):c.584T>C (p.Ile195Thr)	FKTN (I195T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 447340	NM_001079802.2(FKTN):c.588C>T (p.Asp196=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 2625330	NM_001079802.2(FKTN):c.594A>G (p.Lys198=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 93522	NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)	FKTN (R203Q +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +8 more	GBenign/Likely benign
Select item 1511709	NM_001079802.2(FKTN):c.619T>G (p.Phe207Val)	FKTN (F184V +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 528816	NM_001079802.2(FKTN):c.623G>A (p.Gly208Asp)	FKTN (G208D +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 264093	NM_001079802.2(FKTN):c.625C>T (p.Arg209Cys)	FKTN (R209C +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 93523	NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)	FKTN (D192* +2 more)	Duplication (nonsense +1 more)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 955357	NM_001079802.2(FKTN):c.647G>A (p.Arg216Lys)	FKTN (R193K +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 1147859	NM_001079802.2(FKTN):c.648-4T>C	FKTN	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1485692	NM_001079802.2(FKTN):c.653A>T (p.Glu218Val)	FKTN (E195V +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 913951	NM_001079802.2(FKTN):c.664G>A (p.Val222Ile)	FKTN (V199I +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1X +3 more	GUncertain significance
Select item 162568	NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile)	FKTN (T223I +2 more)	Single nucleotide variant (missense variant +1 more)	FKTN-related condition +3 more	GBenign/Likely benign
Select item 264299	NM_001079802.2(FKTN):c.681G>A (p.Leu227=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	FKTN-related condition +6 more	GConflicting classifications of pathogenicity
Select item 1506387	NM_001079802.2(FKTN):c.685G>A (p.Val229Ile)	FKTN (V206I +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 596645	NM_001079802.2(FKTN):c.694C>T (p.Pro232Ser)	FKTN (P232S +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2448092	NM_001079802.2(FKTN):c.731A>G (p.His244Arg)	FKTN (H244R +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1054641	NM_001079802.2(FKTN):c.755A>T (p.Tyr252Phe)	FKTN (Y120F +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 620364	NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter)	FKTN (Y252* +2 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 290499	NM_001079802.2(FKTN):c.757A>G (p.Lys253Glu)	FKTN (K253E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 390531	NM_001079802.2(FKTN):c.766C>A (p.Arg256=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +6 more	GConflicting classifications of pathogenicity
Select item 1760107	NM_001079802.2(FKTN):c.767G>A (p.Arg256Gln)	FKTN (R124Q +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1760944	NM_001079802.2(FKTN):c.786C>A (p.Tyr262Ter)	FKTN (Y262* +2 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype	GPathogenic
Select item 290479	NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp)	FKTN (R274W +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 459224	NM_001079802.2(FKTN):c.822G>T (p.Arg274=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1762657	NM_001079802.2(FKTN):c.825G>A (p.Lys275=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2141149	NM_001079802.2(FKTN):c.835G>A (p.Glu279Lys)	FKTN (E256K +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 2417303	NM_001079802.2(FKTN):c.836A>G (p.Glu279Gly)	FKTN (E147G +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 1026476	NM_001079802.2(FKTN):c.841C>G (p.Leu281Val)	FKTN (L149V +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 510631	NM_001079802.2(FKTN):c.867C>T (p.Asn289=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 265152	NM_001079802.2(FKTN):c.869A>T (p.Lys290Ile)	FKTN (K290I +2 more)	Single nucleotide variant (missense variant +1 more)	FKTN-related condition +5 more	GConflicting classifications of pathogenicity
Select item 583121	NM_001079802.2(FKTN):c.877G>C (p.Val293Leu)	FKTN (V293L +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 264590	NM_001079802.2(FKTN):c.895A>C (p.Ser299Arg)	FKTN (S299R +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance

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