ClinVar for MedGen (Select 335320) - ClinVar - NCBI

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Items: 19

	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 1430943	NM_001159699.2(FHL1):c.652G>A (p.Ala218Thr)	FHL1 (A231T +2 more)	Single nucleotide variant (missense variant +2 more)	X-linked myopathy with postural muscle atrophy +4 more	GUncertain significance
Select item 1423972	NM_001159699.2(FHL1):c.77G>A (p.Cys26Tyr)	FHL1 (C26Y +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked scapuloperoneal muscular dystrophy +6 more	GUncertain significance
Select item 1379144	NM_001159699.2(FHL1):c.494A>G (p.Tyr165Cys)	FHL1 (Y149C +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked myopathy with postural muscle atrophy +4 more	GUncertain significance
Select item 1312609	NM_001159699.2(FHL1):c.303C>G (p.Asn101Lys)	FHL1 (N101K +2 more)	Single nucleotide variant (missense variant +1 more)	Uruguay Faciocardiomusculoskeletal syndrome +6 more	GUncertain significance
Select item 1062520	NM_001159699.2(FHL1):c.836G>A (p.Arg279His)	FHL1 (R263H +2 more)	Single nucleotide variant (missense variant +2 more)	Myopathy, reducing body, X-linked, childhood-onset +5 more	GUncertain significance
Select item 1016186	NM_001159699.2(FHL1):c.480A>C (p.Lys160Asn)	FHL1 (K144N +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, reducing body, X-linked, childhood-onset +4 more	GUncertain significance
Select item 944147	NM_001159699.2(FHL1):c.810dup (p.Cys271fs)	FHL1 (C255fs +5 more)	Duplication (frameshift variant +1 more)	Myopathy, reducing body, X-linked, childhood-onset +5 more	GConflicting classifications of pathogenicity
Select item 838581	NM_001159699.2(FHL1):c.239C>A (p.Thr80Asn)	FHL1 (T93N +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +6 more	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
Select item 665560	NM_001159699.2(FHL1):c.59A>G (p.Lys20Arg)	FHL1 (K20R +2 more)	Single nucleotide variant (missense variant +1 more)	Uruguay Faciocardiomusculoskeletal syndrome +5 more	GUncertain significance
Select item 647258	NM_001159699.2(FHL1):c.400A>G (p.Lys134Glu)	FHL1 (K147E +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, reducing body, X-linked, early-onset, severe +6 more	GUncertain significance
Select item 488949	NM_001159702.3(FHL1):c.-101+3A>G	FHL1	Single nucleotide variant (intron variant)	X-linked myopathy with postural muscle atrophy +5 more	GUncertain significance
Select item 469628	NM_001159699.2(FHL1):c.189C>T (p.Ile63=)	FHL1	Single nucleotide variant (synonymous variant +1 more)	X-linked scapuloperoneal muscular dystrophy +4 more	GLikely benign
Select item 445279	NM_001159699.2(FHL1):c.550-2A>G	FHL1	Single nucleotide variant (splice acceptor variant +1 more)	Uruguay Faciocardiomusculoskeletal syndrome	GPathogenic
Select item 286178	NM_001159699.2(FHL1):c.302A>G (p.Asn101Ser)	FHL1 (N85S +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, reducing body, X-linked, childhood-onset +5 more	GUncertain significance
Select item 285237	NM_001159699.2(FHL1):c.644G>A (p.Arg215His)	FHL1 (R199H +2 more)	Single nucleotide variant (missense variant +2 more)	Myopathy, reducing body, X-linked, early-onset, severe +6 more	GUncertain significance
Select item 198467	NM_001159699.2(FHL1):c.787G>A (p.Asp263Asn)	FHL1 (D247N +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +6 more	GUncertain significance
Select item 198466	NM_001159699.2(FHL1):c.737-8C>T	FHL1	Single nucleotide variant (intron variant)	Myopathy, reducing body, X-linked, early-onset, severe +5 more	GBenign