C0342770[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2675685	NM_000143.4(FH):c.1493A>G (p.Asp498Gly)	FH (D498G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2675686	NM_000143.4(FH):c.1483G>T (p.Glu495Ter)	FH (E495*)	Single nucleotide variant (nonsense)	Fumarase deficiency	GLikely pathogenic
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 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)	Fumarase deficiency +2 more	GUncertain significance
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 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 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 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 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 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 405933	NM_000143.4(FH):c.1405G>A (p.Ala469Thr)	FH (A469T)	Single nucleotide variant (missense variant)	not provided +1 more	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 214387	NM_000143.4(FH):c.1391-1G>C	FH	Single nucleotide variant (splice acceptor variant)	not provided +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 1964153	NM_000143.4(FH):c.1390+3_1390+6del	FH	Deletion (splice donor 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 214405	NM_000143.4(FH):c.1370_1371insTCAC (p.Ala458fs)	FH (A458fs)	Insertion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 134418	NM_000143.4(FH):c.1303G>A (p.Val435Met)	FH (V435M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 92452	NM_000143.4(FH):c.1293del (p.Glu432fs)	FH	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 460340	NM_000143.4(FH):c.1292C>T (p.Thr431Ile)	FH (T431I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 3241621	NM_000143.4(FH):c.1290del (p.Phe430fs)	FH (F430fs)	Deletion (frameshift variant)	Fumarase deficiency	GLikely pathogenic
Select item 3241618	NM_000143.4(FH):c.1276G>A (p.Ala426Thr)	FH (A426T)	Single nucleotide variant (missense variant)	Fumarase deficiency	GUncertain significance
Select item 2675692	NM_000143.4(FH):c.1274A>T (p.Asp425Val)	FH (D425V)	Single nucleotide variant (missense variant)	Fumarase deficiency	GLikely pathogenic
Select item 3241619	NM_000143.4(FH):c.1235T>C (p.Met412Thr)	FH (M412T)	Single nucleotide variant (missense variant)	Fumarase deficiency	GUncertain significance
Select item 2115916	NM_000143.4(FH):c.1218T>A (p.Asn406Lys)	FH (N406K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 393580	NM_000143.4(FH):c.1209del (p.Phe403fs)	FH (F403fs)	Deletion (frameshift variant)	Fumarase deficiency +3 more	GPathogenic/Likely pathogenic
Select item 575864	NM_000143.4(FH):c.1204C>T (p.His402Tyr)	FH (H402Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 567022	NM_000143.4(FH):c.1195A>G (p.Ser399Gly)	FH (S399G)	Single nucleotide variant (missense variant)	not provided +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 42094	NM_000143.4(FH):c.1127A>C (p.Gln376Pro)	FH (Q376P)	Single nucleotide variant (missense variant)	Fumarase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 214419	NM_000143.4(FH):c.1097G>A (p.Ser366Asn)	FH (S366N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 214399	NM_000143.4(FH):c.1083_1086del (p.Glu362fs)	FH (E362fs)	Deletion (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GPathogenic
Select item 991799	NM_000143.4(FH):c.1069A>G (p.Ile357Val)	FH (I357V)	Single nucleotide variant (missense variant)	Fumarase deficiency +2 more	GUncertain significance
Select item 653444	NM_000143.4(FH):c.1051T>G (p.Ser351Ala)	FH (S351A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 485562	NM_000143.4(FH):c.1049G>A (p.Arg350Gln)	FH (R350Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 214418	NM_000143.4(FH):c.1048C>T (p.Arg350Trp)	FH (R350W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1771116	NM_000143.4(FH):c.1030T>C (p.Phe344Leu)	FH (F344L)	Single nucleotide variant (missense variant)	Fumarase deficiency +1 more	GUncertain significance
Select item 16235	NM_000143.4(FH):c.1027C>T (p.Arg343Ter)	FH (R343*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 480845	NM_000143.4(FH):c.1025T>C (p.Ile342Thr)	FH (I342T)	Single nucleotide variant (missense variant)	Fumarase deficiency +2 more	GUncertain significance
Select item 92447	NM_000143.4(FH):c.1020T>A (p.Asn340Lys)	FH	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 405919	NM_000143.4(FH):c.986A>G (p.Asn329Ser)	FH (N329S)	Single nucleotide variant (missense variant)	FH-related disorder +3 more	GUncertain significance
Select item 3241620	NM_000143.4(FH):c.968A>G (p.Glu323Gly)	FH (E323G)	Single nucleotide variant (missense variant)	Fumarase deficiency	GUncertain significance
Select item 92458	NM_000143.4(FH):c.952C>T (p.His318Tyr)	FH	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 405930	NM_000143.4(FH):c.925C>T (p.Pro309Ser)	FH (P309S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 392178	NM_000143.4(FH):c.923C>G (p.Ala308Gly)	FH (A308G)	Single nucleotide variant (missense variant)	Fumarase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 198391	NM_000143.4(FH):c.912_918del (p.Phe305fs)	FH (F305fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 460382	NM_000143.4(FH):c.917T>C (p.Val306Ala)	FH (V306A)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GUncertain significance
Select item 460381	NM_000143.4(FH):c.911C>G (p.Pro304Arg)	FH (P304R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1413368	NM_000143.4(FH):c.909G>C (p.Leu303Phe)	FH (L303F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 208374	NM_000143.4(FH):c.905-1G>A	FH	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 822935	NM_000143.4(FH):c.904+2dup	FH	Duplication (splice donor variant)	not provided +2 more	GUncertain significance
Select item 660901	NM_000143.4(FH):c.877G>A (p.Val293Ile)	FH (V293I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 822700	NM_000143.4(FH):c.874A>C (p.Lys292Gln)	FH (K292Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2675681	NM_000143.4(FH):c.862G>A (p.Gly288Ser)	FH (G288S)	Single nucleotide variant (missense variant)	Fumarase deficiency	GUncertain significance
Select item 639170	NM_000143.4(FH):c.853A>G (p.Thr285Ala)	FH (T285A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2675690	NM_000143.4(FH):c.839del (p.Gly280fs)	FH (G280fs)	Deletion (frameshift variant)	Fumarase deficiency	GLikely pathogenic
Select item 393573	NM_000143.4(FH):c.820G>C (p.Ala274Pro)	FH (A274P)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +1 more	GConflicting classifications of pathogenicity
Select item 2878646	NM_000143.4(FH):c.807C>G (p.Ile269Met)	FH (I269M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 185496	NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del)	FH	Deletion (inframe_deletion)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic/Likely pathogenic
Select item 1510249	NM_000143.4(FH):c.797T>C (p.Met266Thr)	FH (M266T)	Single nucleotide variant (missense variant)	Ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 856040	NM_000143.4(FH):c.784A>G (p.Ile262Val)	FH (I262V)	Single nucleotide variant (missense variant)	Fumarase deficiency +2 more	GUncertain significance
Select item 1758447	NM_000143.4(FH):c.734G>A (p.Gly245Glu)	FH (G245E)	Single nucleotide variant (missense variant)	Fumarase deficiency +1 more	GUncertain significance
Select item 1197605	NM_000143.4(FH):c.733G>A (p.Gly245Arg)	FH (G245R)	Single nucleotide variant (missense variant)	Fumarase deficiency +2 more	GUncertain significance
Select item 184555	NM_000143.4(FH):c.700A>G (p.Thr234Ala)	FH (T234A)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GPathogenic/Likely pathogenic
Select item 16236	NM_000143.4(FH):c.698G>A (p.Arg233His)	FH (R233H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic
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 429176	NM_000143.4(FH):c.689A>G (p.Lys230Arg)	FH (K230R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1755560	NM_000143.4(FH):c.680A>G (p.Gln227Arg)	FH (Q227R)	Single nucleotide variant (missense variant)	Fumarase deficiency +2 more	GUncertain significance
Select item 265147	NM_000143.4(FH):c.668_669del (p.Lys223fs)	FH (K223fs)	Deletion (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic/Likely pathogenic
Select item 405907	NM_000143.4(FH):c.658_659delinsTT (p.Ala220Leu)	FH (A220L)	Indel (missense variant)	Fumarase deficiency +2 more	GUncertain significance
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 214409	NM_000143.4(FH):c.610C>A (p.His204Asn)	FH (H204N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 850312	NM_000143.4(FH):c.602T>C (p.Ile201Thr)	FH (I201T)	Single nucleotide variant (missense variant)	Fumarase deficiency +2 more	GUncertain significance
Select item 142075	NM_000143.4(FH):c.580G>A (p.Ala194Thr)	FH (A194T)	Single nucleotide variant (missense variant)	Fumarase deficiency +4 more	GConflicting classifications of pathogenicity
Select item 429187	NM_000143.4(FH):c.563del (p.Asn188fs)	FH (N188fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 142654	NM_000143.4(FH):c.557G>A (p.Ser186Asn)	FH (S186N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 571342	NM_000143.4(FH):c.555+4A>G	FH	Single nucleotide variant (intron variant)	Fumarase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 449388	NM_000143.4(FH):c.555+1G>A	FH	Single nucleotide variant (splice donor variant)	Fumarase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 393565	NM_000143.4(FH):c.553_554insTG (p.Gln185fs)	FH (Q185fs)	Insertion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
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 460360	NM_000143.4(FH):c.514A>G (p.Lys172Glu)	FH (K172E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 644681	NM_000143.4(FH):c.509G>A (p.Gly170Asp)	FH (G170D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 422293	NM_000143.4(FH):c.504del (p.Glu168fs)	FH (E168fs)	Deletion (frameshift variant)	Fumarase deficiency +3 more	GPathogenic/Likely pathogenic
Select item 2573279	NM_000143.4(FH):c.490del (p.Met164fs)	FH (M164fs)	Deletion (frameshift variant)	Fumarase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 824791	NM_000143.4(FH):c.431G>A (p.Gly144Glu)	FH (G144E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 573543	NM_000143.4(FH):c.417G>A (p.Val139=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 460355	NM_000143.4(FH):c.412C>G (p.Leu138Val)	FH (L138V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 957443	NM_000143.4(FH):c.378+1G>A	FH	Single nucleotide variant (splice donor variant)	Fumarase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 187279	NM_000143.4(FH):c.358A>G (p.Ile120Val)	FH (I120V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1501518	NM_000143.4(FH):c.354T>G (p.Asn118Lys)	FH (N118K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 2675687	NM_000143.4(FH):c.337del (p.Asp113fs)	FH (D113fs)	Deletion (frameshift variant)	Fumarase deficiency	GLikely pathogenic
Select item 823099	NM_000143.4(FH):c.317T>C (p.Val106Ala)	FH (V106A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 405934	NM_000143.4(FH):c.302G>A (p.Arg101Gln)	FH (R101Q)	Single nucleotide variant (missense variant)	Fumarase deficiency +4 more	GConflicting classifications of pathogenicity
Select item 16232	NM_000143.4(FH):c.301C>T (p.Arg101Ter)	FH (R101*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic

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