"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 42095	NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)	FH	Duplication (inframe_insertion)	Hereditary leiomyomatosis and renal cell cancer +4 more	GConflicting classifications of pathogenicity
Select item 137372	NM_000143.4(FH):c.1302C>T (p.Cys434=)	FH	Single nucleotide variant (synonymous variant)	Hereditary leiomyomatosis and renal cell cancer +4 more	GBenign
Select item 1237054	NM_000143.4(FH):c.1237-50TC[26]	FH	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 296870	NM_000143.4(FH):c.1237-50TC[25]	FH	Microsatellite (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 296868	NM_000143.4(FH):c.1237-50TC[23]	FH	Microsatellite (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 296871	NM_000143.4(FH):c.1237-50TC[18]	FH	Microsatellite (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 208375	NM_000143.4(FH):c.1210G>T (p.Glu404Ter)	FH	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 137370	NM_000143.4(FH):c.927G>A (p.Pro309=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 485556	NM_000143.4(FH):c.648T>A (p.Asp216Glu)	FH (D216E)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 137373	NM_000143.4(FH):c.309C>T (p.Ala103=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign