"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 264150	NM_001079802.2(FKTN):c.22G>T (p.Val8Leu)	FKTN (V8L)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
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 93513	NM_001079802.2(FKTN):c.106-10G>A	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy +2 more	GBenign
Select item 36140	NM_001079802.2(FKTN):c.166-6A>G	FKTN	Single nucleotide variant (intron variant)	not provided +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)	Muscular dystrophy-dystroglycanopathy +6 more	GConflicting classifications of pathogenicity
Select item 701478	NM_001079802.2(FKTN):c.207T>C (p.Asn69=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 3211	NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser)	FKTN (G125S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GBenign/Likely benign
Select item 93525	NM_001079802.2(FKTN):c.910+14G>A	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 3216	NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)	FKTN (R307* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +6 more	GPathogenic
Select item 36138	NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp)	FKTN (N446D +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +5 more	GConflicting classifications of pathogenicity