"Athena Diagnostics"[submitter] AND "FHL1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 288181	NM_001159699.2(FHL1):c.114G>A (p.Lys38=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked myopathy with postural muscle atrophy +3 more	GBenign/Likely benign
Select item 239005	NM_001159699.2(FHL1):c.204+5C>T	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy +4 more	GBenign/Likely benign
Select item 569904	NM_001159699.2(FHL1):c.406_409dup (p.Val137fs)	FHL1 (V150fs +2 more)	Duplication (frameshift variant +1 more)	X-linked myopathy with postural muscle atrophy +1 more	GPathogenic
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 804804	NM_001159699.2(FHL1):c.640C>T (p.Gln214Ter)	FHL1 (Q198* +2 more)	Single nucleotide variant (nonsense +2 more)	X-linked myopathy with postural muscle atrophy +1 more	GPathogenic
Select item 1807538	NM_001159699.2(FHL1):c.676G>A (p.Val226Met)	FHL1 (V210M +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 198466	NM_001159699.2(FHL1):c.737-8C>T	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy +6 more	GBenign
Select item 198465	NM_001159699.2(FHL1):c.737-3del	FHL1	Deletion (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 239013	NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn)	FHL1 (D275N +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GBenign
Select item 1807537	NM_001159699.2(FHL1):c.7_8del	FHL1	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance