"Ambry Genetics"[submitter] AND "FH"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1041

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3230441	NM_000143.4(FH):c.1533A>C (p.Ter511Cys)	FH	Single nucleotide variant (stop lost)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1309061	NM_000143.4(FH):c.1529A>G (p.Lys510Arg)	FH (K510R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 480775	NM_000143.4(FH):c.1526C>T (p.Pro509Leu)	FH (P509L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2055886	NM_000143.4(FH):c.1523G>A (p.Gly508Asp)	FH (G508D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2567075	NM_000143.4(FH):c.1522G>A (p.Gly508Ser)	FH (G508S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1774367	NM_000143.4(FH):c.1519_1521del (p.Leu507del)	FH (L507del)	Deletion (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1105369	NM_000143.4(FH):c.1521G>A (p.Leu507=)	FH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 501651	NM_000143.4(FH):c.1520T>C (p.Leu507Pro)	FH (L507P)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3278731	NM_000143.4(FH):c.1517T>C (p.Met506Thr)	FH (M506T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1042485	NM_000143.4(FH):c.1508C>G (p.Pro503Arg)	FH (P503R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 279808	NM_000143.4(FH):c.1506dup (p.Pro503fs)	FH (P503fs)	Duplication (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 819411	NM_000143.4(FH):c.1506A>G (p.Lys502=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 529832	NM_000143.4(FH):c.1503A>G (p.Val501=)	FH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1026013	NM_000143.4(FH):c.1501G>A (p.Val501Ile)	FH (V501I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1774015	NM_000143.4(FH):c.1500G>C (p.Trp500Cys)	FH (W500C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 265151	NM_000143.4(FH):c.1500G>A (p.Trp500Ter)	FH (W500*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 3278752	NM_000143.4(FH):c.1499G>C (p.Trp500Ser)	FH (W500S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2087849	NM_000143.4(FH):c.1498T>C (p.Trp500Arg)	FH (W500R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 819323	NM_000143.4(FH):c.1495G>A (p.Glu499Lys)	FH (E499K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3278715	NM_000143.4(FH):c.1494C>G (p.Asp498Glu)	FH (D498E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1596396	NM_000143.4(FH):c.1494C>T (p.Asp498=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1390905	NM_000143.4(FH):c.1489T>C (p.Phe497Leu)	FH (F497L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1518517	NM_000143.4(FH):c.1484A>G (p.Glu495Gly)	FH (E495G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1773599	NM_000143.4(FH):c.1482del (p.Glu495fs)	FH (E495fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1773587	NM_000143.4(FH):c.1482A>C (p.Ala494=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 237111	NM_000143.4(FH):c.1482A>G (p.Ala494=)	FH	Single nucleotide variant (synonymous variant)	Fumarase deficiency +4 more	GConflicting classifications of pathogenicity
Select item 940902	NM_000143.4(FH):c.1481C>T (p.Ala494Val)	FH (A494V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2447198	NM_000143.4(FH):c.1480G>A (p.Ala494Thr)	FH (A494T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 485568	NM_000143.4(FH):c.1480G>C (p.Ala494Pro)	FH (A494P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1140284	NM_000143.4(FH):c.1479A>G (p.Thr493=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 847543	NM_000143.4(FH):c.1477A>G (p.Thr493Ala)	FH (T493A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1084228	NM_000143.4(FH):c.1476C>G (p.Leu492=)	FH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 279807	NM_000143.4(FH):c.1475_1476del (p.Leu492fs)	FH (L492fs)	Microsatellite (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GPathogenic
Select item 834130	NM_000143.4(FH):c.1474C>G (p.Leu492Val)	FH (L492V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 485577	NM_000143.4(FH):c.1472A>G (p.Tyr491Cys)	FH (Y491C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 460345	NM_000143.4(FH):c.1471T>C (p.Tyr491His)	FH (Y491H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 698588	NM_000143.4(FH):c.1470C>T (p.Gly490=)	FH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3230440	NM_000143.4(FH):c.1469G>T (p.Gly490Val)	FH (G490V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 393582	NM_000143.4(FH):c.1469del (p.Gly490fs)	FH (G490fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1773287	NM_000143.4(FH):c.1467T>G (p.Leu489=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230439	NM_000143.4(FH):c.1464A>T (p.Glu488Asp)	FH (E488D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 237110	NM_000143.4(FH):c.1462G>A (p.Glu488Lys)	FH (E488K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 460343	NM_000143.4(FH):c.1461C>T (p.Ile487=)	FH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2485477	NM_000143.4(FH):c.1459A>T (p.Ile487Phe)	FH (I487F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1430565	NM_000143.4(FH):c.1459A>G (p.Ile487Val)	FH (I487V)	Single nucleotide variant (missense variant)	Fumarase deficiency +2 more	GUncertain significance
Select item 1773094	NM_000143.4(FH):c.1458T>C (p.Ala486=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1614935	NM_000143.4(FH):c.1455T>C (p.Thr485=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1772947	NM_000143.4(FH):c.1450G>A (p.Glu484Lys)	FH (E484K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 529814	NM_000143.4(FH):c.1447A>C (p.Lys483Gln)	FH (K483Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 214388	NM_000143.4(FH):c.1446A>C (p.Leu482Phe)	FH (L482F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 423941	NM_000143.4(FH):c.1445T>G (p.Leu482Ter)	FH (L482*)	Single nucleotide variant (nonsense)	Fumarase deficiency +2 more	GPathogenic/Likely pathogenic
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 1772693	NM_000143.4(FH):c.1440A>T (p.Ser480=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 429184	NM_000143.4(FH):c.1439C>G (p.Ser480Ter)	FH (S480*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1772605	NM_000143.4(FH):c.1435G>A (p.Gly479Arg)	FH (G479R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 647389	NM_000143.4(FH):c.1434T>A (p.Asn478Lys)	FH (N478K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 185472	NM_000143.4(FH):c.1434T>C (p.Asn478=)	FH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 42095	NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)	FH	Duplication (inframe_insertion)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 3230438	NM_000143.4(FH):c.1433A>C (p.Asn478Thr)	FH (N478T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 405918	NM_000143.4(FH):c.1433A>G (p.Asn478Ser)	FH (N478S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 184590	NM_000143.4(FH):c.1428C>T (p.His476=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 1392346	NM_000143.4(FH):c.1426C>T (p.His476Tyr)	FH (H476Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2587057	NM_000143.4(FH):c.1425A>G (p.Ala475=)	FH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2452771	NM_000143.4(FH):c.1425A>T (p.Ala475=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1101463	NM_000143.4(FH):c.1422A>G (p.Thr474=)	FH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 752402	NM_000143.4(FH):c.1422A>T (p.Thr474=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 529801	NM_000143.4(FH):c.1421C>T (p.Thr474Ile)	FH (T474I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 41585	NM_000143.4(FH):c.1421C>G (p.Thr474Arg)	FH (T474R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1772245	NM_000143.4(FH):c.1420A>G (p.Thr474Ala)	FH (T474A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2452774	NM_000143.4(FH):c.1419G>A (p.Lys473=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 662328	NM_000143.4(FH):c.1415C>T (p.Ala472Val)	FH (A472V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2499936	NM_000143.4(FH):c.1414G>A (p.Ala472Thr)	FH (A472T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1772087	NM_000143.4(FH):c.1413dup (p.Ala472fs)	FH (A472fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1772041	NM_000143.4(FH):c.1411A>G (p.Ile471Val)	FH (I471V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 460342	NM_000143.4(FH):c.1408A>G (p.Lys470Glu)	FH (K470E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1771867	NM_000143.4(FH):c.1404A>C (p.Ala468=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1771859	NM_000143.4(FH):c.1403C>T (p.Ala468Val)	FH (A468V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1120941	NM_000143.4(FH):c.1401G>A (p.Lys467=)	FH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3230437	NM_000143.4(FH):c.1400A>G (p.Lys467Arg)	FH (K467R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 819103	NM_000143.4(FH):c.1398C>T (p.Asp466=)	FH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 214425	NM_000143.4(FH):c.1394A>G (p.Tyr465Cys)	FH (Y465C)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic/Likely pathogenic
Select item 2681939	NM_000143.4(FH):c.1392G>T (p.Gly464=)	FH	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 529810	NM_000143.4(FH):c.1391G>T (p.Gly464Val)	FH (G464V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 429189	NM_000143.4(FH):c.1391G>A (p.Gly464Glu)	FH (G464E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1771552	NM_000143.4(FH):c.1391-1G>T	FH	Single nucleotide variant (splice acceptor variant)	Fumarase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 945225	NM_000143.4(FH):c.1391-2A>G	FH	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 214423	NM_000143.4(FH):c.1391-2A>T	FH	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 758720	NM_000143.4(FH):c.1391-4T>C	FH	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2397835	NM_000143.4(FH):c.1391-6C>G	FH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1191977	NM_000143.4(FH):c.1391-269A>G	FH	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1063305	NM_000143.4(FH):c.1390+5G>A	FH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1771532	NM_000143.4(FH):c.1390+3A>G	FH	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 579514	NM_000143.4(FH):c.1390+2T>C	FH	Single nucleotide variant (splice donor variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GConflicting classifications of pathogenicity
Select item 265150	NM_000143.4(FH):c.1390+1G>T	FH	Single nucleotide variant (splice donor variant)	Fumarase deficiency +3 more	GPathogenic/Likely pathogenic
Select item 819069	NM_000143.4(FH):c.1390G>A (p.Gly464Arg)	FH (G464R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 231977	NM_000143.4(FH):c.1389A>G (p.Ile463Met)	FH (I463M)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3278737	NM_000143.4(FH):c.1387A>G (p.Ile463Val)	FH (I463V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1488514	NM_000143.4(FH):c.1385A>G (p.His462Arg)	FH (H462R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 529805	NM_000143.4(FH):c.1384C>T (p.His462Tyr)	FH (H462Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1771285	NM_000143.4(FH):c.1380T>C (p.Asn460=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign

<< First< Prev

Page of 11