"Sema4, Sema4"[submitter] AND "FH"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1692241	NM_000143.4(FH):c.1531T>A (p.Ter511Arg)	FH	Single nucleotide variant (stop lost)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 1140284	NM_000143.4(FH):c.1479A>G (p.Thr493=)	FH	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 42095	NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)	FH	Duplication (inframe_insertion)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 413604	NM_000143.4(FH):c.1314C>T (p.Ile438=)	FH	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 413607	NM_000143.4(FH):c.1308G>A (p.Val436=)	FH	Single nucleotide variant (synonymous variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GLikely benign
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 1123001	NM_000143.4(FH):c.1249T>C (p.Leu417=)	FH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 1692240	NM_000143.4(FH):c.1237-50TC[29]	FH	Microsatellite (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely 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)	Fumarase deficiency +4 more	GLikely benign
Select item 1692237	NM_000143.4(FH):c.1237-13_1237-12insCTCTCTCTCTCTCTCA	FH	Microsatellite (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1692236	NM_000143.4(FH):c.1237-13_1237-12insCTCTCTCTCA	FH	Microsatellite (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1692235	NM_000143.4(FH):c.1237-13_1237-12insCTCTCA	FH	Insertion (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 296865	NM_000143.4(FH):c.1237-50TC[20]	FH	Microsatellite (intron variant)	Fumarase deficiency +4 more	GConflicting classifications of pathogenicity
Select item 1336415	NM_000143.4(FH):c.1237-50TC[16]	FH	Microsatellite (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1336271	NM_000143.4(FH):c.1237-50TC[15]	FH	Microsatellite (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 296872	NM_000143.4(FH):c.1237-50TC[17]	FH	Microsatellite (intron variant)	Hereditary leiomyomatosis and renal cell cancer +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 +4 more	GConflicting classifications of pathogenicity
Select item 1080155	NM_000143.4(FH):c.1109-4G>A	FH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1692234	NM_000143.4(FH):c.1109-12del	FH	Deletion (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822038	NM_000143.4(FH):c.1028G>A (p.Arg343Gln)	FH (R343Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 41584	NM_000143.4(FH):c.908T>C (p.Leu303Ser)	FH (L303S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 41583	NM_000143.4(FH):c.883G>A (p.Ala295Thr)	FH (A295T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1692244	NM_000143.4(FH):c.881C>T (p.Ala294Val)	FH (A294V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 214377	NM_000143.4(FH):c.817G>A (p.Ala273Thr)	FH (A273T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 485572	NM_000143.4(FH):c.782G>T (p.Arg261Ile)	FH (R261I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 706597	NM_000143.4(FH):c.739-15T>G	FH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 214376	NM_000143.4(FH):c.703C>T (p.His235Tyr)	FH (H235Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 429171	NM_000143.4(FH):c.702T>G (p.Thr234=)	FH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 141355	NM_000143.4(FH):c.697C>T (p.Arg233Cys)	FH	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1692243	NM_000143.4(FH):c.676G>A (p.Ala226Thr)	FH (A226T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 855318	NM_000143.4(FH):c.644A>T (p.His215Leu)	FH (H215L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 972502	NM_000143.4(FH):c.612T>G (p.His204Gln)	FH (H204Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 460364	NM_000143.4(FH):c.540T>C (p.His180=)	FH	Single nucleotide variant (synonymous variant)	FH-related disorder +2 more	GLikely benign
Select item 265146	NM_000143.4(FH):c.349G>C (p.Ala117Pro)	FH (A117P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 92455	NM_000143.4(FH):c.320A>C (p.Asn107Thr)	FH	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 137373	NM_000143.4(FH):c.309C>T (p.Ala103=)	FH	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 460350	NM_000143.4(FH):c.306G>A (p.Ala102=)	FH	Single nucleotide variant (synonymous variant)	FH-related disorder +2 more	GBenign/Likely benign
Select item 413610	NM_000143.4(FH):c.270C>T (p.Thr90=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 821233	NM_000143.4(FH):c.240G>A (p.Lys80=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1692242	NM_000143.4(FH):c.237T>C (p.Phe79=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 485565	NM_000143.4(FH):c.222A>T (p.Arg74Ser)	FH (R74S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 214390	NM_000143.4(FH):c.194A>G (p.Asp65Gly)	FH (D65G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 649446	NM_000143.4(FH):c.151C>T (p.Arg51Trp)	FH (R51W)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 184518	NM_000143.4(FH):c.122C>T (p.Ala41Val)	FH (A41V)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1524750	NM_000143.4(FH):c.101C>T (p.Pro34Leu)	FH (P34L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 214372	NM_000143.4(FH):c.50C>T (p.Ala17Val)	FH (A17V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 578050	NM_000143.4(FH):c.35G>T (p.Arg12Leu)	FH (R12L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 296876	NM_000143.4(FH):c.33G>C (p.Ser11=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +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 specified +2 more	GBenign/Likely benign
Select item 460359	NM_000143.4(FH):c.4T>C (p.Tyr2His)	FH (Y2H)	Single nucleotide variant (missense variant)	FH-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 875347	NM_000143.3(FH):c.-57C>G	FH	Single nucleotide variant	Fumarase deficiency +2 more	GConflicting classifications of pathogenicity

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Items: 55