C3150418[trait identifier] AND "3billion"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687374	NM_013382.7(POMT2):c.1738T>C (p.Ser580Pro)	POMT2 (S580P)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GLikely pathogenic
Select item 95543	NM_013382.7(POMT2):c.320C>T (p.Pro107Leu)	POMT2	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance