"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282866	NM_024301.5(FKRP):c.162_165dup (p.Phe56fs)	FKRP (F56fs)	Duplication (frameshift variant)	Walker-Warburg congenital muscular dystrophy +4 more	GPathogenic
Select item 129056	NM_024301.5(FKRP):c.192C>T (p.Pro64=)	FKRP	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
Select item 4229	NM_024301.5(FKRP):c.235G>A (p.Val79Met)	FKRP (V79M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 96107	NM_024301.5(FKRP):c.249C>T (p.Ala83=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy +7 more	GBenign/Likely benign
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 129057	NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)	FKRP (R143S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B5 +10 more	GBenign/Likely benign
Select item 96112	NM_024301.5(FKRP):c.585C>T (p.Asp195=)	FKRP	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +7 more	GBenign/Likely benign
Select item 167071	NM_024301.5(FKRP):c.740C>A (p.Pro247Gln)	FKRP (P247Q)	Single nucleotide variant (missense variant)	FKRP-related condition +4 more	GConflicting classifications of pathogenicity
Select item 129058	NM_024301.5(FKRP):c.822C>G (p.Ile274Met)	FKRP (I274M)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 4221	NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	FKRP (L276I)	Single nucleotide variant (missense variant)	Headache +20 more	GPathogenic/Likely pathogenic
Select item 241460	NM_024301.5(FKRP):c.898G>A (p.Val300Met)	FKRP (V300M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 507664	NM_024301.5(FKRP):c.948C>T (p.Pro316=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy +3 more	GLikely benign
Select item 241455	NM_024301.5(FKRP):c.1020C>T (p.Tyr340=)	FKRP	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 137380	NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)	FKRP (V393I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +5 more	GConflicting classifications of pathogenicity