C1846010[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441806	NM_001159699.2(FHL1):c.22G>A (p.Gly8Ser)	FHL1 (G8S)	Single nucleotide variant (missense variant +1 more)	Uruguay Faciocardiomusculoskeletal syndrome	GUncertain significance
Select item 689729	NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg)	FHL1 (C179R +2 more)	Single nucleotide variant (missense variant +1 more)	Uruguay Faciocardiomusculoskeletal syndrome +4 more	GPathogenic/Likely pathogenic