ClinVar for MedGen (Select 1642840) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2921111	NM_001159699.2(FHL1):c.737-8C>G	FHL1	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis type 1	GLikely benign
Select item 1456031	NM_001159699.2(FHL1):c.576C>G (p.Tyr192Ter)	FHL1 (Y176* +2 more)	Single nucleotide variant (nonsense +2 more)	Familial hemophagocytic lymphohistiocytosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 239013	NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn)	FHL1 (D275N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GBenign
Select item 239009	NM_001159699.2(FHL1):c.489C>T (p.Asp163=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy +4 more	GBenign/Likely benign
Select item 239005	NM_001159699.2(FHL1):c.204+5C>T	FHL1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 198464	NM_001159699.2(FHL1):c.737-13T>C	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy +2 more	GBenign

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