"Genome-Nilou Lab"[submitter] AND "FKRP"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96104	NM_024301.5(FKRP):c.-34C>T	FKRP	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +4 more	GBenign
Select item 714440	NM_024301.5(FKRP):c.9C>T (p.Leu3=)	FKRP	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +4 more	GLikely benign
Select item 1199350	NM_024301.5(FKRP):c.119G>A (p.Arg40His)	FKRP (R40H)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +2 more	GUncertain significance
Select item 96105	NM_024301.5(FKRP):c.135C>T (p.Ala45=)	FKRP	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +6 more	GBenign
Select item 1199308	NM_024301.5(FKRP):c.282C>T (p.Pro94=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 96108	NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)	FKRP (A114G)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 1199351	NM_024301.5(FKRP):c.854A>C (p.Glu285Ala)	FKRP (E285A)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 664273	NM_024301.5(FKRP):c.948del (p.Cys317fs)	FKRP (C317fs)	Deletion (frameshift variant)	Walker-Warburg congenital muscular dystrophy +5 more	GPathogenic