"Fulgent Genetics, Fulgent Genetics"[submitter] AND "FH"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1007873	NM_000143.4(FH):c.1259C>T (p.Ala420Val)	FH (A420V)	Single nucleotide variant (missense variant)	not provided +3 more	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 1692238	NM_000143.4(FH):c.1237-50TC[27]	FH	Microsatellite (intron variant)	FH-related condition +4 more	GLikely benign
Select item 137371	NM_000143.4(FH):c.1236+14C>T	FH	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 92458	NM_000143.4(FH):c.952C>T (p.His318Tyr)	FH	Single nucleotide variant (missense variant)	Fumarase deficiency +3 more	GPathogenic/Likely pathogenic
Select item 237119	NM_000143.4(FH):c.926C>T (p.Pro309Leu)	FH (P309L)	Single nucleotide variant (missense variant)	Fumarase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 460382	NM_000143.4(FH):c.917T>C (p.Val306Ala)	FH (V306A)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GUncertain significance
Select item 390255	NM_000143.4(FH):c.907T>G (p.Leu303Val)	FH (L303V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 214412	NM_000143.4(FH):c.904+1G>A	FH	Single nucleotide variant (splice donor variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GPathogenic/Likely pathogenic
Select item 1488936	NM_000143.4(FH):c.776T>C (p.Met259Thr)	FH (M259T)	Single nucleotide variant (missense variant)	Fumarase deficiency +3 more	GUncertain significance
Select item 654446	NM_000143.4(FH):c.739-2A>G	FH	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1440004	NM_000143.4(FH):c.707C>T (p.Thr236Ile)	FH (T236I)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GUncertain significance
Select item 184555	NM_000143.4(FH):c.700A>G (p.Thr234Ala)	FH (T234A)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 142075	NM_000143.4(FH):c.580G>A (p.Ala194Thr)	FH (A194T)	Single nucleotide variant (missense variant)	Fumarase deficiency +5 more	GUncertain significance
Select item 646748	NM_000143.4(FH):c.578C>T (p.Thr193Ile)	FH (T193I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 405926	NM_000143.4(FH):c.556-4A>G	FH	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 460353	NM_000143.4(FH):c.382G>A (p.Ala128Thr)	FH (A128T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 653197	NM_000143.4(FH):c.352A>G (p.Asn118Asp)	FH (N118D)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 16232	NM_000143.4(FH):c.301C>T (p.Arg101Ter)	FH (R101*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 237114	NM_000143.4(FH):c.251T>C (p.Val84Ala)	FH (V84A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 485563	NM_000143.4(FH):c.194A>T (p.Asp65Val)	FH (D65V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 134415	NM_000143.4(FH):c.77C>T (p.Pro26Leu)	FH (P26L)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 134413	NM_000143.4(FH):c.53C>T (p.Pro18Leu)	FH (P18L)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +4 more	GBenign/Likely benign

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Items: 23