"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MUTYH"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 41757	NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln)	MUTYH (R534Q +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 41756	NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met)	MUTYH (L529M +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 134866	NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)	MUTYH (G503E +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 127840	NM_001048174.2(MUTYH):c.1409A>G (p.Gln470Arg)	MUTYH (Q498R +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GUncertain significance
Select item 219953	NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)	MUTYH (V493F +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 127838	NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)	MUTYH (E480del +7 more)	Microsatellite (inframe_deletion +1 more)	Familial adenomatous polyposis 2 +3 more	GPathogenic/Likely pathogenic
Select item 5297	NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)	MUTYH (E466* +8 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2 +4 more	GConflicting classifications of pathogenicity
Select item 183787	NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 418800	NM_001048174.2(MUTYH):c.1346C>A (p.Thr449Lys)	MUTYH (T477K +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 41754	NM_001048174.2(MUTYH):c.1336C>T (p.Arg446Cys)	MUTYH (R474C +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 141614	NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr)	MUTYH (A473T +8 more)	Single nucleotide variant (missense variant +1 more)	Gastric cancer +4 more	GUncertain significance
Select item 533310	NM_001048174.2(MUTYH):c.1331G>T (p.Gly444Val)	MUTYH (G472V +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 135983	NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr)	MUTYH (A419T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 140791	NM_001048174.2(MUTYH):c.1166G>A (p.Arg389His)	MUTYH (R417H +7 more)	Single nucleotide variant (missense variant +1 more)	Gastric cancer +4 more	GConflicting classifications of pathogenicity
Select item 142604	NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)	MUTYH (P391L +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 5294	NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	MUTYH (G382D +8 more)	Single nucleotide variant (missense variant +1 more)	Ovarian carcinoma +8 more	GPathogenic/Likely pathogenic
Select item 141282	NM_001048174.2(MUTYH):c.1103-2A>G	MUTYH	Single nucleotide variant (splice acceptor variant)	Carcinoma of colon +4 more	GPathogenic/Likely pathogenic
Select item 406844	NM_001048174.2(MUTYH):c.1031C>T (p.Ser344Phe)	MUTYH (S372F +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GUncertain significance
Select item 142860	NM_001048174.2(MUTYH):c.991C>A (p.Pro331Thr)	MUTYH (P359T +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GUncertain significance
Select item 185982	NM_001048174.2(MUTYH):c.953C>G (p.Ser318Trp)	MUTYH (S346W +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GUncertain significance
Select item 127835	NM_001048174.2(MUTYH):c.928C>T (p.Gln310Ter)	MUTYH (Q338* +8 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2 +3 more	GPathogenic
Select item 183823	NM_001048174.2(MUTYH):c.916C>G (p.Pro306Ala)	MUTYH (P334A +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 134859	NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)	MUTYH (V329M +8 more)	Single nucleotide variant (missense variant +1 more)	Pilomatrixoma +5 more	GConflicting classifications of pathogenicity
Select item 232151	NM_001048174.2(MUTYH):c.849A>T (p.Arg283Ser)	MUTYH (R311S +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 182694	NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys)	MUTYH (R311K +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GUncertain significance
Select item 140877	NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)	MUTYH (R245H +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +6 more	GPathogenic/Likely pathogenic
Select item 41761	NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys)	MUTYH (R245C +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 406839	NM_001048174.2(MUTYH):c.614G>A (p.Gly205Asp)	MUTYH (G233D +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 801477	NM_001048174.2(MUTYH):c.606+21C>A	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2 +4 more	GBenign/Likely benign
Select item 186889	NM_001048174.2(MUTYH):c.602G>A (p.Gly201Asp)	MUTYH (G229D +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GUncertain significance
Select item 127847	NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val)	MUTYH (I223V +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +5 more	GUncertain significance
Select item 184447	NM_001048174.2(MUTYH):c.565C>T (p.Arg189Cys)	MUTYH (R217C +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GUncertain significance
Select item 127846	NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln)	MUTYH (R191Q +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +5 more	GConflicting classifications of pathogenicity
Select item 481803	NM_001048174.2(MUTYH):c.487C>G (p.Arg163Gly)	MUTYH (R191G +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 182689	NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)	MUTYH (R182H +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 5293	NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	MUTYH (Y165C +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GPathogenic/Likely pathogenic
Select item 481787	NM_001048174.2(MUTYH):c.424G>A (p.Val142Met)	MUTYH (V170M +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 230971	NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)	MUTYH (W156* +8 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2 +3 more	GPathogenic/Likely pathogenic
Select item 186207	NM_001048174.2(MUTYH):c.356A>G (p.Asn119Ser)	MUTYH (N147S +6 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2 +4 more	GUncertain significance
Select item 185604	NM_001048174.2(MUTYH):c.310G>A (p.Val104Ile)	MUTYH (V132I +6 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2 +4 more	GUncertain significance
Select item 234229	NM_001048174.2(MUTYH):c.305-1G>C	MUTYH	Single nucleotide variant (splice acceptor variant +1 more)	Familial adenomatous polyposis 2 +4 more	GPathogenic
Select item 142736	NM_001048174.2(MUTYH):c.263G>A (p.Arg88Gln)	MUTYH (R116Q +5 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2 +5 more	GConflicting classifications of pathogenicity
Select item 5296	NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)	MUTYH (Y90* +5 more)	Single nucleotide variant (nonsense +2 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 419820	NM_001048174.2(MUTYH):c.133G>A (p.Glu45Lys)	MUTYH (E73K +5 more)	Single nucleotide variant (missense variant +3 more)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
Select item 371682	NM_001048174.2(MUTYH):c.20C>T (p.Ala7Val)	MUTYH (A21V +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 127845	NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter)	MUTYH (R19* +1 more)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 142941	NM_001128425.2(MUTYH):c.17C>A (p.Ser6Tyr)	TOE1, MUTYH (S6Y)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2 +4 more	GConflicting classifications of pathogenicity
Select item 780001	NM_025077.4(TOE1):c.1176G>A (p.Leu392=)	MUTYH, TOE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 777908	NM_025077.4(TOE1):c.1379C>T (p.Pro460Leu)	TOE1, MUTYH (P460L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign

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Items: 49