C0342770[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 296857	NM_000143.3(FH):c.*266A>G	FH	Single nucleotide variant	Hereditary leiomyomatosis and renal cell cancer +1 more	GConflicting classifications of pathogenicity
Select item 296858	NM_000143.4(FH):c.221_222del	FH	Deletion (3 prime UTR variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GBenign/Likely benign
Select item 877068	NM_000143.4(FH):c.*211G>C	FH	Single nucleotide variant (3 prime UTR variant)	Fumarase deficiency +1 more	GUncertain significance
Select item 296859	NM_000143.4(FH):c.*102T>C	FH	Single nucleotide variant (3 prime UTR variant)	Hereditary leiomyomatosis and renal cell cancer +1 more	GConflicting classifications of pathogenicity
Select item 296860	NM_000143.4(FH):c.*92G>T	FH	Single nucleotide variant (3 prime UTR variant)	Hereditary leiomyomatosis and renal cell cancer +1 more	GUncertain significance
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 237111	NM_000143.4(FH):c.1482A>G (p.Ala494=)	FH	Single nucleotide variant (synonymous variant)	FH-related condition +5 more	GConflicting classifications of pathogenicity
Select item 296861	NM_000143.4(FH):c.1443C>G (p.Thr481=)	FH	Single nucleotide variant (synonymous variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GConflicting classifications of pathogenicity
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 137372	NM_000143.4(FH):c.1302C>T (p.Cys434=)	FH	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 460340	NM_000143.4(FH):c.1292C>T (p.Thr431Ile)	FH (T431I)	Single nucleotide variant (missense variant)	Fumarase deficiency +3 more	GUncertain significance
Select item 296862	NM_000143.4(FH):c.1237-5_1237-4insCTCT	FH	Microsatellite (intron variant)	Hereditary leiomyomatosis and renal cell cancer +1 more	GUncertain significance
Select item 296863	NM_000143.4(FH):c.1237-9_1237-8insCTCTCT	FH	Microsatellite (intron variant)	not provided +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 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 296869	NM_000143.4(FH):c.1237-50TC[24]	FH	Microsatellite (intron variant)	Fumarase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 296868	NM_000143.4(FH):c.1237-50TC[23]	FH	Microsatellite (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 296867	NM_000143.4(FH):c.1237-50TC[22]	FH	Microsatellite (intron variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GConflicting classifications of pathogenicity
Select item 296866	NM_000143.4(FH):c.1237-50TC[21]	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)	Hereditary leiomyomatosis and renal cell cancer +4 more	GConflicting classifications of pathogenicity
Select item 296864	NM_000143.4(FH):c.1237-12A>T	FH	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 296872	NM_000143.4(FH):c.1237-50TC[17]	FH	Microsatellite (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 296871	NM_000143.4(FH):c.1237-50TC[18]	FH	Microsatellite (intron variant)	FH-related condition +4 more	GConflicting classifications of pathogenicity
Select item 137371	NM_000143.4(FH):c.1236+14C>T	FH	Single nucleotide variant (intron variant)	Hereditary leiomyomatosis and renal cell cancer +4 more	GBenign/Likely benign
Select item 413613	NM_000143.4(FH):c.1109-7C>T	FH	Single nucleotide variant (intron variant)	not provided +2 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 137370	NM_000143.4(FH):c.927G>A (p.Pro309=)	FH	Single nucleotide variant (synonymous variant)	Hereditary leiomyomatosis and renal cell cancer +4 more	GBenign
Select item 460382	NM_000143.4(FH):c.917T>C (p.Val306Ala)	FH (V306A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 296873	NM_000143.4(FH):c.905-5T>A	FH	Single nucleotide variant (intron variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GConflicting classifications of pathogenicity
Select item 654446	NM_000143.4(FH):c.739-2A>G	FH	Single nucleotide variant (splice acceptor variant)	Fumarase deficiency +2 more	GPathogenic/Likely pathogenic
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 875260	NM_000143.4(FH):c.738+14A>G	FH	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 405911	NM_000143.4(FH):c.655G>A (p.Asp219Asn)	FH (D219N)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 825940	NM_000143.4(FH):c.574C>T (p.Pro192Ser)	FH (P192S)	Single nucleotide variant (missense variant)	Fumarase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 29705	NM_000143.4(FH):c.521C>G (p.Pro174Arg)	FH	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 654367	NM_000143.4(FH):c.415G>A (p.Val139Met)	FH (V139M)	Single nucleotide variant (missense variant)	Ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 296874	NM_000143.4(FH):c.379-15A>T	FH	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 187279	NM_000143.4(FH):c.358A>G (p.Ile120Val)	FH (I120V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 41582	NM_000143.4(FH):c.346A>T (p.Ile116Phe)	FH (I116F)	Single nucleotide variant (missense variant)	Fumarase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 137373	NM_000143.4(FH):c.309C>T (p.Ala103=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 185591	NM_000143.4(FH):c.305C>T (p.Ala102Val)	FH (A102V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 296875	NM_000143.4(FH):c.190A>G (p.Asn64Asp)	FH (N64D)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GUncertain significance
Select item 184518	NM_000143.4(FH):c.122C>T (p.Ala41Val)	FH (A41V)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +5 more	GConflicting classifications of pathogenicity
Select item 142038	NM_000143.4(FH):c.105G>A (p.Ser35=)	FH	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 134415	NM_000143.4(FH):c.77C>T (p.Pro26Leu)	FH (P26L)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +4 more	GBenign/Likely benign
Select item 187176	NM_000143.4(FH):c.63C>T (p.Ala21=)	FH	Single nucleotide variant (synonymous variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GConflicting classifications of pathogenicity
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
Select item 296876	NM_000143.4(FH):c.33G>C (p.Ser11=)	FH	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 296877	NM_000143.4(FH):c.12A>G (p.Ala4=)	FH	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 214430	NM_000143.4(FH):c.7C>G (p.Arg3Gly)	FH (R3G)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 296878	NM_000143.4(FH):c.1A>C (p.Met1Leu)	FH (M1L)	Single nucleotide variant (missense variant +1 more)	Hereditary leiomyomatosis and renal cell cancer +3 more	GConflicting classifications of pathogenicity
Select item 214371	NM_000143.4(FH):c.-11C>T	FH	Single nucleotide variant (5 prime UTR variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GConflicting classifications of pathogenicity
Select item 874436	NM_000143.4(FH):c.-14G>C	FH	Single nucleotide variant (5 prime UTR variant)	Fumarase deficiency +1 more	GUncertain significance
Select item 296879	NM_000143.3(FH):c.-48G>T	FH	Single nucleotide variant	Hereditary leiomyomatosis and renal cell cancer +1 more	GUncertain significance
Select item 875347	NM_000143.3(FH):c.-57C>G	FH	Single nucleotide variant	Fumarase deficiency +2 more	GConflicting classifications of pathogenicity

ClinVar

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Items: 55