"Revvity Omics, Revvity"[submitter] AND "FKTN"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 551221	NM_001079802.2(FKTN):c.-1_2del (p.Met1del)	FKTN (M1del)	Deletion (inframe_deletion +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +3 more	GConflicting classifications of pathogenicity
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 566394	NM_001079802.2(FKTN):c.22G>A (p.Val8Met)	FKTN (V8M)	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)	not provided +2 more	GUncertain significance
Select item 93520	NM_001079802.2(FKTN):c.41C>T (p.Thr14Met)	FKTN (T14M)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1X +7 more	GUncertain significance
Select item 459222	NM_001079802.2(FKTN):c.58T>G (p.Phe20Val)	FKTN (F20V)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 2689069	NM_001079802.2(FKTN):c.74_75delinsAT (p.Leu25Tyr)	FKTN (L25Y)	Indel (missense variant +2 more)	not provided	GUncertain significance
Select item 568936	NM_001079802.2(FKTN):c.92A>G (p.Tyr31Cys)	FKTN (Y31C)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 956762	NM_001079802.2(FKTN):c.109G>A (p.Gly37Arg)	FKTN (G37R)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 2441460	NM_001079802.2(FKTN):c.116G>C (p.Gly39Ala)	FKTN (G39A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3200	NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter)	FKTN (R47*)	Single nucleotide variant (nonsense +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +4 more	GPathogenic
Select item 643980	NM_001079802.2(FKTN):c.140G>A (p.Arg47Gln)	FKTN (R47Q)	Single nucleotide variant (missense variant +2 more)	not provided +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)	not provided +2 more	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)	not provided +2 more	GUncertain significance
Select item 2441459	NM_001079802.2(FKTN):c.235A>G (p.Ile79Val)	FKTN (I56V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1423621	NM_001079802.2(FKTN):c.239T>C (p.Leu80Pro)	FKTN (L57P +1 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +6 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)	Walker-Warburg congenital muscular dystrophy +3 more	GUncertain significance
Select item 1508951	NM_001079802.2(FKTN):c.369+1G>A	FKTN	Single nucleotide variant (splice donor variant)	Walker-Warburg congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 288016	NM_001079802.2(FKTN):c.374G>T (p.Gly125Val)	FKTN (G125V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +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)	Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 +7 more	GUncertain significance
Select item 167069	NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)	FKTN (C137* +2 more)	Single nucleotide variant (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +6 more	GPathogenic/Likely pathogenic
Select item 283759	NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln)	FKTN (R146Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GUncertain significance
Select item 286032	NM_001079802.2(FKTN):c.443A>G (p.Asp148Gly)	FKTN (D148G +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 501810	NM_001079802.2(FKTN):c.445G>A (p.Gly149Arg)	FKTN (G149R +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +4 more	GUncertain significance
Select item 290546	NM_001079802.2(FKTN):c.448A>G (p.Ile150Val)	FKTN (I150V +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 2441455	NM_001079802.2(FKTN):c.484T>C (p.Tyr162His)	FKTN (Y139H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 450015	NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser)	FKTN (G187S +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +6 more	GUncertain significance
Select item 1019675	NM_001079802.2(FKTN):c.575A>G (p.Lys192Arg)	FKTN (K169R +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 1506387	NM_001079802.2(FKTN):c.685G>A (p.Val229Ile)	FKTN (V206I +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +2 more	GUncertain significance
Select item 281831	NM_001079802.2(FKTN):c.706A>G (p.Met236Val)	FKTN (M236V +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 459223	NM_001079802.2(FKTN):c.719AAG[1] (p.Glu241del)	FKTN (E241del +2 more)	Microsatellite (inframe_deletion +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 290499	NM_001079802.2(FKTN):c.757A>G (p.Lys253Glu)	FKTN (K253E +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 290479	NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp)	FKTN (R274W +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +7 more	GConflicting classifications of pathogenicity
Select item 1404650	NM_001079802.2(FKTN):c.821G>A (p.Arg274Gln)	FKTN (R142Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 287804	NM_001079802.2(FKTN):c.854C>T (p.Ala285Val)	FKTN (A285V +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 2689068	NM_001079802.2(FKTN):c.875G>C (p.Gly292Ala)	FKTN (G160A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2441462	NM_001079802.2(FKTN):c.902C>A (p.Thr301Asn)	FKTN (T169N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 238269	NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser)	FKTN (N310S +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 +7 more	GConflicting classifications of pathogenicity
Select item 2441458	NM_001079802.2(FKTN):c.1131G>T (p.Met377Ile)	FKTN (M245I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 167070	NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg)	FKTN (G387R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GUncertain significance
Select item 3203	NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)	FKTN (F258fs +2 more)	Duplication (frameshift variant +1 more)	not provided +8 more	GPathogenic
Select item 1322920	NM_001079802.2(FKTN):c.1167del (p.Lys389fs)	FKTN (K257fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1X +3 more	GPathogenic
Select item 2441457	NM_001079802.2(FKTN):c.1169T>G (p.Phe390Cys)	FKTN (F258C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 969988	NM_001079802.2(FKTN):c.1176C>A (p.Tyr392Ter)	FKTN (Y369* +3 more)	Single nucleotide variant (nonsense +2 more)	Dilated cardiomyopathy 1X +3 more	GPathogenic/Likely pathogenic
Select item 995361	NM_001079802.2(FKTN):c.1212T>G (p.Phe404Leu)	FKTN (F272L +2 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1446524	NM_001079802.2(FKTN):c.1224G>C (p.Lys408Asn)	FKTN (K276N +2 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 499551	NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser)	FKTN (N446S +2 more)	Single nucleotide variant (missense variant +3 more)	Walker-Warburg congenital muscular dystrophy +7 more	GUncertain significance
Select item 432249	NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile)	FKTN (N446I +2 more)	Single nucleotide variant (missense variant +3 more)	Dilated cardiomyopathy 1X +4 more	GConflicting classifications of pathogenicity
Select item 1324406	NM_001079802.2(FKTN):c.1362G>A (p.Trp454Ter)	FKTN (W322* +2 more)	Single nucleotide variant (nonsense +3 more)	not provided	GLikely pathogenic
Select item 597909	NM_001079802.2(FKTN):c.1380dup (p.Tyr461fs)	FKTN (Y329fs +2 more)	Duplication (frameshift variant +3 more)	not provided +7 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 52