C1708350[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 501651	NM_000143.4(FH):c.1520T>C (p.Leu507Pro)	FH (L507P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2673427	NM_000143.4(FH):c.1477dup (p.Thr493fs)	FH (T493fs)	Duplication (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer	GPathogenic
Select item 1387156	NM_000143.4(FH):c.1478del (p.Thr493fs)	FH (T493fs)	Deletion (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer +1 more	GPathogenic/Likely pathogenic
Select item 279807	NM_000143.4(FH):c.1475_1476del (p.Leu492fs)	FH (L492fs)	Microsatellite (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic
Select item 579514	NM_000143.4(FH):c.1390+2T>C	FH	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 265150	NM_000143.4(FH):c.1390+1G>T	FH	Single nucleotide variant (splice donor variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GPathogenic/Likely pathogenic
Select item 422542	NM_000143.4(FH):c.1294_1336dup (p.Asn446fs)	FH (N446fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 92453	NM_000143.4(FH):c.1301G>A (p.Cys434Tyr)	FH	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GConflicting classifications of pathogenicity
Select item 92452	NM_000143.4(FH):c.1293del (p.Glu432fs)	FH	Deletion (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GPathogenic
Select item 92451	NM_000143.4(FH):c.1255T>C (p.Ser419Pro)	FH	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GPathogenic/Likely pathogenic
Select item 2673385	NM_000143.4(FH):c.1236+2T>A	FH	Single nucleotide variant (splice donor variant)	Hereditary leiomyomatosis and renal cell cancer	GLikely pathogenic
Select item 214422	NM_000143.4(FH):c.1189G>A (p.Gly397Arg)	FH (G397R)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GPathogenic/Likely pathogenic
Select item 405939	NM_000143.4(FH):c.1157A>G (p.Gln386Arg)	FH (Q386R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 265148	NM_000143.4(FH):c.1144A>G (p.Met382Val)	FH (M382V)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic/Likely pathogenic
Select item 393579	NM_000143.4(FH):c.1138dup (p.Met380fs)	FH (M380fs)	Duplication (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic
Select item 2573255	NM_000143.4(FH):c.1127_1128del (p.Gln376fs)	FH (Q376fs)	Deletion (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer	GPathogenic
Select item 372365	NM_000143.4(FH):c.1108+1G>T	FH	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 214419	NM_000143.4(FH):c.1097G>A (p.Ser366Asn)	FH (S366N)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 214374	NM_000143.4(FH):c.1093A>G (p.Ser365Gly)	FH (S365G)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +2 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/Likely pathogenic
Select item 843573	NM_000143.4(FH):c.1084G>A (p.Glu362Lys)	FH (E362K)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GLikely pathogenic
Select item 16235	NM_000143.4(FH):c.1027C>T (p.Arg343Ter)	FH (R343*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 92447	NM_000143.4(FH):c.1020T>A (p.Asn340Lys)	FH	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +4 more	GPathogenic/Likely pathogenic
Select item 529807	NM_000143.4(FH):c.977G>A (p.Gly326Glu)	FH (G326E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 214417	NM_000143.4(FH):c.965T>G (p.Val322Gly)	FH (V322G)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GConflicting classifications of pathogenicity
Select item 92458	NM_000143.4(FH):c.952C>T (p.His318Tyr)	FH	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GPathogenic/Likely pathogenic
Select item 214416	NM_000143.4(FH):c.947C>A (p.Ala316Asp)	FH (A316D)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic/Likely pathogenic
Select item 198391	NM_000143.4(FH):c.912_918del (p.Phe305fs)	FH (F305fs)	Deletion (frameshift variant)	Fumarase deficiency +3 more	GPathogenic
Select item 1765675	NM_000143.4(FH):c.907_910del (p.Pro304fs)	FH (P304fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 214412	NM_000143.4(FH):c.904+1G>A	FH	Single nucleotide variant (splice donor variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GPathogenic/Likely pathogenic
Select item 198045	NM_000143.4(FH):c.892G>C (p.Ala298Pro)	FH (A298P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 958622	NM_000143.4(FH):c.824_827dup (p.Thr277fs)	FH (T277fs)	Duplication (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic
Select item 450623	NM_000143.4(FH):c.809_810del (p.Ile269_Tyr270insTer)	FH	Deletion (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 185496	NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del)	FH	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 960893	NM_000143.4(FH):c.738+1G>A	FH	Single nucleotide variant (splice donor variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic/Likely pathogenic
Select item 1757309	NM_000143.4(FH):c.712G>C (p.Asp238His)	FH (D238H)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GConflicting classifications of pathogenicity
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 16237	NM_000143.4(FH):c.698G>T (p.Arg233Leu)	FH (R233L)	Single nucleotide variant (missense variant)	not provided +2 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 +4 more	GPathogenic
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 2673430	NM_000143.4(FH):c.587_593del (p.His196fs)	FH (H196fs)	Deletion (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer	GPathogenic
Select item 214373	NM_000143.4(FH):c.584T>C (p.Met195Thr)	FH (M195T)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic/Likely pathogenic
Select item 92456	NM_000143.4(FH):c.560C>G (p.Ser187Ter)	FH (S187*)	Single nucleotide variant (nonsense)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic
Select item 393566	NM_000143.4(FH):c.556-2A>T	FH	Single nucleotide variant (splice acceptor variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic/Likely pathogenic
Select item 393565	NM_000143.4(FH):c.553_554insTG (p.Gln185fs)	FH (Q185fs)	Insertion (frameshift variant)	Fumarase deficiency +3 more	GPathogenic
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 2673433	NM_000143.4(FH):c.415del (p.Val139fs)	FH (V139fs)	Deletion (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer	GPathogenic
Select item 186284	NM_000143.4(FH):c.404A>G (p.His135Arg)	FH (H135R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 214408	NM_000143.4(FH):c.395_399del (p.Lys131_Leu132insTer)	FH	Microsatellite (nonsense)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic
Select item 859883	NM_000143.4(FH):c.379-1G>C	FH	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 576345	NM_000143.4(FH):c.353del (p.Asn118fs)	FH (N118fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 265146	NM_000143.4(FH):c.349G>C (p.Ala117Pro)	FH (A117P)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 92455	NM_000143.4(FH):c.320A>C (p.Asn107Thr)	FH	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic/Likely pathogenic
Select item 569195	NM_000143.4(FH):c.301_319del (p.Arg101fs)	FH (R101fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 16232	NM_000143.4(FH):c.301C>T (p.Arg101Ter)	FH (R101*)	Single nucleotide variant (nonsense)	Hereditary leiomyomatosis and renal cell cancer +3 more	GPathogenic
Select item 419237	NM_000143.4(FH):c.268-2A>G	FH	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 405927	NM_000143.4(FH):c.267+1G>A	FH	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 858651	NM_000143.4(FH):c.267A>G (p.Pro89=)	FH	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 393558	NM_000143.4(FH):c.239dup (p.Ile81fs)	FH (I81fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 2674008	NM_000143.4(FH):c.233dup (p.Asn78fs)	FH (N78fs)	Duplication (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer	GPathogenic
Select item 405883	NM_000143.4(FH):c.204T>A (p.Tyr68Ter)	FH (Y68*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 576558	NM_000143.4(FH):c.201T>G (p.Tyr67Ter)	FH (Y67*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 214389	NM_000143.4(FH):c.139C>T (p.Gln47Ter)	FH (Q47*)	Single nucleotide variant (nonsense)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic

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Items: 64