C4284790[trait identifier] AND "MGZ Medical Genetics Center"[submitter - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 291107	NM_001077365.2(POMT1):c.151A>T (p.Ile51Phe)	POMT1 (I51F)	Single nucleotide variant (missense variant +3 more)	not provided +4 more	GUncertain significance
Select item 982897	NM_001077365.2(POMT1):c.427+1_427+2insA	POMT1	Insertion (splice donor variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +3 more	GPathogenic/Likely pathogenic
Select item 3239	NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter)	POMT1 (Q303* +9 more)	Single nucleotide variant (nonsense +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +5 more	GPathogenic
Select item 95452	NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)	POMT1 (Q385* +9 more)	Single nucleotide variant (nonsense +2 more)	not provided +6 more	GPathogenic
Select item 285067	NM_013382.7(POMT2):c.295C>T (p.Arg99Cys)	POMT2 (R99C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +5 more	GConflicting classifications of pathogenicity
Select item 241460	NM_024301.5(FKRP):c.898G>A (p.Val300Met)	FKRP (V300M)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +8 more	GConflicting classifications of pathogenicity

ClinVar