Related gene-specific medical variations for Gene (Select 2271) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2681942	NM_000143.4(FH):c.995C>T (p.Ala332Val)	FH (A332V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2681938	NM_000143.4(FH):c.1234A>T (p.Met412Leu)	FH (M412L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2675693	NM_000143.4(FH):c.32C>A (p.Ser11Ter)	FH (S11*)	Single nucleotide variant (nonsense)	Fumarase deficiency	GLikely pathogenic
Select item 2675692	NM_000143.4(FH):c.1274A>T (p.Asp425Val)	FH (D425V)	Single nucleotide variant (missense variant)	Fumarase deficiency	GLikely pathogenic
Select item 2675690	NM_000143.4(FH):c.839del (p.Gly280fs)	FH (G280fs)	Deletion (frameshift variant)	Fumarase deficiency	GLikely pathogenic
Select item 2675689	NM_000143.4(FH):c.40_41insG (p.Leu14fs)	FH (L14fs)	Insertion (frameshift variant)	Fumarase deficiency	GLikely pathogenic
Select item 2675687	NM_000143.4(FH):c.337del (p.Asp113fs)	FH (D113fs)	Deletion (frameshift variant)	Fumarase deficiency	GLikely pathogenic
Select item 2675686	NM_000143.4(FH):c.1483G>T (p.Glu495Ter)	FH (E495*)	Single nucleotide variant (nonsense)	Fumarase deficiency	GLikely pathogenic
Select item 2675681	NM_000143.4(FH):c.862G>A (p.Gly288Ser)	FH (G288S)	Single nucleotide variant (missense variant)	Fumarase deficiency	GUncertain significance
Select item 2441432	NM_000143.4(FH):c.1156C>A (p.Gln386Lys)	FH (Q386K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809689	NM_000143.4(FH):c.1237-13_1237-12insCTCTCTCTCTCA	FH	Insertion (intron variant)	Fumarase deficiency +1 more	GLikely benign
Select item 1803713	NM_000143.4(FH):c.1517T>G (p.Met506Arg)	FH (M506R)	Single nucleotide variant (missense variant)	Fumarase deficiency	GUncertain significance
Select item 1205116	NM_000143.4(FH):c.132+201C>G	FH, LOC129932888	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191946	NM_000143.4(FH):c.132+178G>A	FH, LOC129932888	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 931415	NM_000143.4(FH):c.1158_1160del (p.Gln386_Val387delinsHis)	FH	Deletion (inframe_indel)	Fumarase deficiency	GLikely pathogenic
Select item 813570	NM_000143.4(FH):c.596C>G (p.Ala199Gly)	FH (A199G)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 134414	NM_000143.4(FH):c.71C>G (p.Ser24Trp)	FH (S24W)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 29706	NC_000001.11:g.(?_241497603..241519755_?)del	FH	Deletion	Fumarase deficiency	GPathogenic