"Institute for Clinical Genetics, University Hospital TU Dresden, Univ - ClinVar - NCBI

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Items: 9

	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)	Fumarase deficiency +5 more	GConflicting classifications of pathogenicity
Select item 529801	NM_000143.4(FH):c.1421C>T (p.Thr474Ile)	FH (T474I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 42094	NM_000143.4(FH):c.1127A>C (p.Gln376Pro)	FH (Q376P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 214418	NM_000143.4(FH):c.1048C>T (p.Arg350Trp)	FH (R350W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 827167	NM_000143.4(FH):c.763G>A (p.Val255Ile)	FH (V255I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 824814	NM_000143.4(FH):c.434C>G (p.Ser145Ter)	FH (S145*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 663080	NM_000143.4(FH):c.327T>G (p.Asp109Glu)	FH (D109E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 529825	NM_000143.4(FH):c.166A>G (p.Thr56Ala)	FH (T56A)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 837796	NM_000143.4(FH):c.28C>T (p.Arg10Cys)	FH (R10C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance