"Blueprint Genetics"[submitter] AND "FHL1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 636920	NM_001159699.2(FHL1):c.148A>G (p.Lys50Glu)	FHL1 (K34E +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy +1 more	GUncertain significance
Select item 222634	NM_001159699.2(FHL1):c.340T>A (p.Ser114Thr)	FHL1 (S98T +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy +2 more	GUncertain significance
Select item 636964	NM_001159699.2(FHL1):c.576C>A (p.Tyr192Ter)	FHL1 (Y176* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 222635	NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser)	FHL1 (A322P +5 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy +3 more	GPathogenic/Likely pathogenic
Select item 222636	NM_001159699.2(FHL1):c.813C>G (p.Cys271Trp)	FHL1 (A322G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 636681	NM_001159699.2(FHL1):c.866G>C (p.Cys289Ser)	FHL1 (C273S +2 more)	Single nucleotide variant (missense variant +2 more)	X-linked myopathy with postural muscle atrophy +1 more	GUncertain significance

ClinVar