C1846672[trait identifier] AND "Center for Genomics, Ann and Robert H. - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500032	NM_024301.5(FKRP):c.10A>G (p.Thr4Ala)	FKRP (T4A)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +3 more	GUncertain significance
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 289565	NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)	FKRP (S152R)	Single nucleotide variant (missense variant)	not specified +7 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 1910167	NM_024301.5(FKRP):c.934C>G (p.Arg312Gly)	FKRP (R312G)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +3 more	GConflicting classifications of pathogenicity

ClinVar