"GeneDx"[submitter] AND "FH"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 60117	GRCh38/hg38 1q43-44(chr1:237906379-244022201)x1	AKT3, AKT3-IT1 +55 more	Copy number loss	See cases	GPathogenic
Select item 57849	GRCh38/hg38 1q43(chr1:241358731-241676967)x3	CHML, FH +5 more	Copy number gain	See cases	GUncertain significance
Select item 1252989	NC_000001.11:g.241497346CA[7]	FH	Microsatellite	not provided	GBenign
Select item 1333069	NC_000001.11:g.241497360C>T	FH	Single nucleotide variant	not provided	GLikely benign
Select item 1327716	NC_000001.11:g.241497425T>C	FH	Single nucleotide variant	not provided	GLikely benign
Select item 296858	NM_000143.4(FH):c.221_222del	FH	Deletion (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 1293664	NM_000143.4(FH):c.*5C>T	FH	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1309061	NM_000143.4(FH):c.1529A>G (p.Lys510Arg)	FH (K510R)	Single nucleotide variant (missense variant)	not provided	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 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 449792	NM_000143.4(FH):c.1486C>T (p.Gln496Ter)	FH (Q496*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 279807	NM_000143.4(FH):c.1475_1476del (p.Leu492fs)	FH (L492fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
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 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 1430565	NM_000143.4(FH):c.1459A>G (p.Ile487Val)	FH (I487V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1217999	NM_000143.4(FH):c.1456_1458del (p.Ala486del)	FH (A486del)	Deletion (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
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 leiomyomatosis and renal cell cancer +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)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 214407	NM_000143.4(FH):c.1430_1437dup (p.Ser480fs)	FH (S480fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 185472	NM_000143.4(FH):c.1434T>C (p.Asn478=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 42095	NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)	FH	Duplication (inframe_insertion)	FH-related condition +5 more	GConflicting classifications of pathogenicity
Select item 405918	NM_000143.4(FH):c.1433A>G (p.Asn478Ser)	FH (N478S)	Single nucleotide variant (missense variant)	Fumarase deficiency +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 41585	NM_000143.4(FH):c.1421C>G (p.Thr474Arg)	FH (T474R)	Single nucleotide variant (missense variant)	FH-related condition +4 more	GConflicting classifications of pathogenicity
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 460342	NM_000143.4(FH):c.1408A>G (p.Lys470Glu)	FH (K470E)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GUncertain significance
Select item 214406	NM_000143.4(FH):c.1400dup (p.Ala468fs)	FH (A468fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 214425	NM_000143.4(FH):c.1394A>G (p.Tyr465Cys)	FH (Y465C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 214387	NM_000143.4(FH):c.1391-1G>C	FH	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 421720	NM_000143.4(FH):c.1391-2del	FH	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 214423	NM_000143.4(FH):c.1391-2A>T	FH	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 679613	NM_000143.4(FH):c.1391-158A>T	FH	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 679799	NM_000143.4(FH):c.1391-285A>G	FH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292577	NM_000143.4(FH):c.1390+276G>A	FH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232109	NM_000143.4(FH):c.1390+261T>C	FH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1052714	NM_000143.4(FH):c.1390+6T>A	FH	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1063305	NM_000143.4(FH):c.1390+5G>A	FH	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 265150	NM_000143.4(FH):c.1390+1G>T	FH	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 2505594	NM_000143.4(FH):c.1382C>T (p.Pro461Leu)	FH (P461L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 460341	NM_000143.4(FH):c.1379A>G (p.Asn460Ser)	FH (N460S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 214405	NM_000143.4(FH):c.1370_1371insTCAC (p.Ala458fs)	FH (A458fs)	Insertion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 214404	NM_000143.4(FH):c.1357_1358del (p.Leu453fs)	FH (L453fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 566507	NM_000143.4(FH):c.1354T>A (p.Ser452Thr)	FH (S452T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 214403	NM_000143.4(FH):c.1349_1352del (p.Asn450fs)	FH (N450fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1310008	NM_000143.4(FH):c.1347G>A (p.Met449Ile)	FH (M449I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422542	NM_000143.4(FH):c.1294_1336dup (p.Asn446fs)	FH (N446fs)	Duplication (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer +1 more	GPathogenic
Select item 413604	NM_000143.4(FH):c.1314C>T (p.Ile438=)	FH	Single nucleotide variant (synonymous variant)	FH-related condition +2 more	GLikely benign
Select item 413607	NM_000143.4(FH):c.1308G>A (p.Val436=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 515769	NM_000143.4(FH):c.1305G>A (p.Val435=)	FH	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 134418	NM_000143.4(FH):c.1303G>A (p.Val435Met)	FH (V435M)	Single nucleotide variant (missense variant)	FH-related condition +4 more	GConflicting classifications of pathogenicity
Select item 373513	NM_000143.4(FH):c.1302C>A (p.Cys434Ter)	FH (C434*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 137372	NM_000143.4(FH):c.1302C>T (p.Cys434=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 92453	NM_000143.4(FH):c.1301G>A (p.Cys434Tyr)	FH	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 700529	NM_000143.4(FH):c.1299C>T (p.Asn433=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 92452	NM_000143.4(FH):c.1293del (p.Glu432fs)	FH	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 581275	NM_000143.4(FH):c.1282G>C (p.Val428Leu)	FH (V428L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214424	NM_000143.4(FH):c.1268T>G (p.Leu423Arg)	FH (L423R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 214402	NM_000143.4(FH):c.1263del (p.Arg421fs)	FH (R421fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 432199	NM_000143.4(FH):c.1250T>G (p.Leu417Ter)	FH (L417*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1188428	NM_000143.4(FH):c.1237-4A>G	FH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 418591	NM_000143.4(FH):c.1237-7C>T	FH	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 413606	NM_000143.4(FH):c.1237-9C>T	FH	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1237054	NM_000143.4(FH):c.1237-50TC[26]	FH	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 418620	NM_000143.4(FH):c.1237-13_1237-12insTT	FH	Insertion (intron variant)	not provided	GLikely benign
Select item 296869	NM_000143.4(FH):c.1237-50TC[24]	FH	Microsatellite (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 296868	NM_000143.4(FH):c.1237-50TC[23]	FH	Microsatellite (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 296867	NM_000143.4(FH):c.1237-50TC[22]	FH	Microsatellite (intron variant)	not provided +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)	not specified +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 506563	NM_000143.4(FH):c.1237-13C>T	FH	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 214370	NM_000143.4(FH):c.1237-18T>A	FH	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 679715	NM_000143.4(FH):c.1236+346_1236+355del	FH	Deletion (intron variant)	not provided	GLikely benign
Select item 679773	NM_000143.4(FH):c.1236+292T>C	FH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276141	NM_000143.4(FH):c.1236+233T>C	FH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 137371	NM_000143.4(FH):c.1236+14C>T	FH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 372366	NM_000143.4(FH):c.1229C>T (p.Pro410Leu)	FH (P410L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1308117	NM_000143.4(FH):c.1224C>G (p.Phe408Leu)	FH (F408L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 265149	NM_000143.4(FH):c.1205A>G (p.His402Arg)	FH (H402R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 567022	NM_000143.4(FH):c.1195A>G (p.Ser399Gly)	FH (S399G)	Single nucleotide variant (missense variant)	Fumarase deficiency +2 more	GUncertain significance
Select item 214422	NM_000143.4(FH):c.1189G>A (p.Gly397Arg)	FH (G397R)	Single nucleotide variant (missense variant)	Fumarase deficiency +3 more	GPathogenic/Likely pathogenic
Select item 1372937	NM_000143.4(FH):c.1186G>C (p.Val396Leu)	FH (V396L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303417	NM_000143.4(FH):c.1170C>A (p.Asn390Lys)	FH (N390K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 864859	NM_000143.4(FH):c.1169A>G (p.Asn390Ser)	FH (N390S)	Single nucleotide variant (missense variant)	Fumarase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 234068	NM_000143.4(FH):c.1163T>C (p.Met388Thr)	FH (M388T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 405939	NM_000143.4(FH):c.1157A>G (p.Gln386Arg)	FH (Q386R)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic/Likely pathogenic
Select item 167065	NM_000143.4(FH):c.1154C>A (p.Ala385Asp)	FH	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 645299	NM_000143.4(FH):c.1151C>T (p.Ala384Val)	FH (A384V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 214421	NM_000143.4(FH):c.1146G>A (p.Met382Ile)	FH (M382I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 265148	NM_000143.4(FH):c.1144A>G (p.Met382Val)	FH (M382V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 214401	NM_000143.4(FH):c.1139_1142del (p.Met380fs)	FH (M380fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 42094	NM_000143.4(FH):c.1127A>C (p.Gln376Pro)	FH (Q376P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 92448	NM_000143.4(FH):c.1126C>T (p.Gln376Ter)	FH (Q376*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1200817	NM_000143.4(FH):c.1108+261C>T	FH	Single nucleotide variant (intron variant)	not provided	GLikely benign

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