C4284790[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 444780	NM_001077365.2(POMT1):c.677T>C (p.Leu226Pro)	POMT1 (L226P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 365275	NM_001077365.2(POMT1):c.697_699del (p.Asn233del)	POMT1 (N233del +4 more)	Deletion (inframe_deletion +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +6 more	GConflicting classifications of pathogenicity
Select item 498220	NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val)	POMT1 (A555V +10 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +5 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 449685	NM_024301.5(FKRP):c.1270A>C (p.Asn424His)	FKRP (N424H)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance

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