"Myriad Genetics, Inc."[submitter] AND "FKTN"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1726869	NM_001079802.2(FKTN):c.69dup (p.Gln24fs)	FKTN (Q24fs)	Duplication (frameshift variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 1726685	NM_001079802.2(FKTN):c.245T>A (p.Leu82Ter)	FKTN (L59* +1 more)	Single nucleotide variant (nonsense +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 1725583	NM_001079802.2(FKTN):c.378del (p.Trp126fs)	FKTN (W103fs +1 more)	Deletion (frameshift variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 1724541	NM_001079802.2(FKTN):c.400G>T (p.Gly134Ter)	FKTN (G111* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 1724953	NM_001079802.2(FKTN):c.428_429delinsT (p.Lys143fs)	FKTN (K11fs +2 more)	Indel (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 1724752	NM_001079802.2(FKTN):c.436dup (p.Arg146fs)	FKTN (R123fs +2 more)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 1725035	NM_001079802.2(FKTN):c.442_443del (p.Asp148fs)	FKTN (D125fs +2 more)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 1724610	NM_001079802.2(FKTN):c.569_570del (p.Arg190fs)	FKTN (R167fs +2 more)	Microsatellite (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 1726110	NM_001079802.2(FKTN):c.587_590del (p.Asp196fs)	FKTN (D173fs +2 more)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 1725624	NM_001079802.2(FKTN):c.745_746delinsT (p.Glu249fs)	FKTN (E117fs +2 more)	Indel (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 1726984	NM_001079802.2(FKTN):c.840dup (p.Leu281fs)	FKTN (L149fs +2 more)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 1725272	NM_001079802.2(FKTN):c.970_973delinsTT (p.Ile324fs)	FKTN (I192fs +2 more)	Indel (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 3203	NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)	FKTN (F258fs +2 more)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +8 more	GPathogenic