"PreventionGenetics, part of Exact Sciences"[submitter] AND "FH"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 237111	NM_000143.4(FH):c.1482A>G (p.Ala494=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1159130	NM_000143.4(FH):c.1467T>C (p.Leu489=)	FH	Single nucleotide variant (synonymous variant)	FH-related disorder +1 more	GLikely benign
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 184590	NM_000143.4(FH):c.1428C>T (p.His476=)	FH	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 41585	NM_000143.4(FH):c.1421C>G (p.Thr474Arg)	FH (T474R)	Single nucleotide variant (missense variant)	Fumarase deficiency +4 more	GConflicting classifications of pathogenicity
Select item 413604	NM_000143.4(FH):c.1314C>T (p.Ile438=)	FH	Single nucleotide variant (synonymous variant)	FH-related disorder +2 more	GLikely benign
Select item 134418	NM_000143.4(FH):c.1303G>A (p.Val435Met)	FH (V435M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 92451	NM_000143.4(FH):c.1255T>C (p.Ser419Pro)	FH	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 418591	NM_000143.4(FH):c.1237-7C>T	FH	Single nucleotide variant (intron variant)	FH-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 237109	NM_000143.4(FH):c.1237-14_1237-9dup	FH	Duplication (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 1692239	NM_000143.4(FH):c.1237-50TC[28]	FH	Microsatellite (intron variant)	not specified +2 more	GLikely benign
Select item 1692238	NM_000143.4(FH):c.1237-50TC[27]	FH	Microsatellite (intron variant)	not specified +4 more	GLikely benign
Select item 296870	NM_000143.4(FH):c.1237-50TC[25]	FH	Microsatellite (intron variant)	Hereditary leiomyomatosis and renal cell cancer +4 more	GConflicting classifications of pathogenicity
Select item 1336271	NM_000143.4(FH):c.1237-50TC[15]	FH	Microsatellite (intron variant)	FH-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 296871	NM_000143.4(FH):c.1237-50TC[18]	FH	Microsatellite (intron variant)	Hereditary leiomyomatosis and renal cell cancer +4 more	GConflicting classifications of pathogenicity
Select item 3034785	NM_000143.4(FH):c.1237-15_1237-14insCTCA	FH	Insertion (intron variant)	FH-related disorder	GLikely benign
Select item 818645	NM_000143.4(FH):c.1227G>A (p.Lys409=)	FH	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 644222	NM_000143.4(FH):c.1088C>G (p.Pro363Arg)	FH (P363R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 393575	NM_000143.4(FH):c.1022A>G (p.Asp341Gly)	FH (D341G)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GConflicting classifications of pathogenicity
Select item 92447	NM_000143.4(FH):c.1020T>A (p.Asn340Lys)	FH	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +4 more	GPathogenic/Likely pathogenic
Select item 405919	NM_000143.4(FH):c.986A>G (p.Asn329Ser)	FH (N329S)	Single nucleotide variant (missense variant)	Fumarase deficiency +3 more	GUncertain significance
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 237118	NM_000143.4(FH):c.739-10T>C	FH	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 405938	NM_000143.4(FH):c.616G>A (p.Val206Ile)	FH (V206I)	Single nucleotide variant (missense variant)	FH-related disorder +3 more	GUncertain significance
Select item 1061776	NM_000143.4(FH):c.580G>T (p.Ala194Ser)	FH (A194S)	Single nucleotide variant (missense variant)	FH-related disorder +1 more	GUncertain significance
Select item 142075	NM_000143.4(FH):c.580G>A (p.Ala194Thr)	FH (A194T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 460364	NM_000143.4(FH):c.540T>C (p.His180=)	FH	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 185946	NM_000143.4(FH):c.534C>T (p.Asn178=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 681025	NM_000143.4(FH):c.312T>C (p.Ala104=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 460350	NM_000143.4(FH):c.306G>A (p.Ala102=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 413610	NM_000143.4(FH):c.270C>T (p.Thr90=)	FH	Single nucleotide variant (synonymous variant)	FH-related disorder +3 more	GBenign/Likely benign
Select item 184137	NM_000143.4(FH):c.217G>A (p.Val73Met)	FH (V73M)	Single nucleotide variant (missense variant)	Fumarase deficiency +4 more	GConflicting classifications of pathogenicity
Select item 1578173	NM_000143.4(FH):c.183G>A (p.Lys61=)	FH	Single nucleotide variant (synonymous variant)	FH-related disorder +2 more	GLikely benign
Select item 184518	NM_000143.4(FH):c.122C>T (p.Ala41Val)	FH (A41V)	Single nucleotide variant (missense variant)	Fumarase deficiency +5 more	GConflicting classifications of pathogenicity
Select item 823298	NM_000143.4(FH):c.94G>A (p.Ala32Thr)	FH (A32T)	Single nucleotide variant (missense variant)	FH-related disorder +2 more	GUncertain significance
Select item 134415	NM_000143.4(FH):c.77C>T (p.Pro26Leu)	FH (P26L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 838645	NM_000143.4(FH):c.34C>T (p.Arg12Cys)	FH (R12C)	Single nucleotide variant (missense variant)	FH-related disorder +2 more	GUncertain significance
Select item 529834	NM_000143.4(FH):c.33G>A (p.Ser11=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 296876	NM_000143.4(FH):c.33G>C (p.Ser11=)	FH	Single nucleotide variant (synonymous variant)	Hereditary leiomyomatosis and renal cell cancer +5 more	GConflicting classifications of pathogenicity
Select item 184570	NM_000143.4(FH):c.6C>T (p.Tyr2=)	FH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 460359	NM_000143.4(FH):c.4T>C (p.Tyr2His)	FH (Y2H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 507987	NM_000143.4(FH):c.-3A>G	FH	Single nucleotide variant (5 prime UTR variant)	FH-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 513188	NM_000143.4(FH):c.-10C>T	FH	Single nucleotide variant (5 prime UTR variant)	FH-related disorder +2 more	GLikely benign

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Items: 43