C3272841[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 127843	NM_001048174.2(MUTYH):c.1556del (p.Ala519fs)	MUTYH (A520fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 186948	NM_001048174.2(MUTYH):c.1504G>C (p.Asp502His)	MUTYH (D530H +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 127833	NM_001048174.2(MUTYH):c.1486A>T (p.Met496Leu)	MUTYH (M524L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 127841	NM_001048174.2(MUTYH):c.1472G>A (p.Arg491Gln)	MUTYH (R519Q +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 238340	NM_001048174.2(MUTYH):c.1453G>T (p.Val485Leu)	MUTYH (V513L +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 557662	NM_001048174.2(MUTYH):c.1435-9T>C	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2 +1 more	GLikely benign
Select item 134866	NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)	MUTYH (G503E +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 142884	NM_001048174.2(MUTYH):c.1410G>C (p.Gln470His)	MUTYH (Q498H +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 140942	NM_001048174.2(MUTYH):c.1402G>A (p.Val468Met)	MUTYH (V496M +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 142440	NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)	MUTYH (R495H +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
Select item 219953	NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)	MUTYH (V493F +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GPathogenic/Likely pathogenic
Select item 371681	NM_001048174.2(MUTYH):c.1393-1G>A	MUTYH	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 2 +1 more	GLikely pathogenic
Select item 378185	NM_001048174.2(MUTYH):c.1393-17C>G	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 187040	NM_001048174.2(MUTYH):c.1392+2C>T	MUTYH	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
Select item 142138	NM_001048174.2(MUTYH):c.1381G>A (p.Ala461Thr)	MUTYH (A489T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 127838	NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)	MUTYH (E480del +7 more)	Microsatellite (inframe_deletion +1 more)	not provided +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)	MUTYH-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 188159	NM_001048174.2(MUTYH):c.1346C>T (p.Thr449Met)	MUTYH (T477M +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 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 186723	NM_001048174.2(MUTYH):c.1321G>A (p.Val441Ile)	MUTYH (V469I +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 557720	NM_001048174.2(MUTYH):c.1311dup (p.Val438fs)	MUTYH (V346fs +7 more)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 187485	NM_001048174.2(MUTYH):c.1311A>C (p.Pro437=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +3 more	GLikely benign
Select item 141925	NM_001048174.2(MUTYH):c.1309C>G (p.Pro437Ala)	MUTYH (P465A +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GUncertain significance
Select item 233326	NM_001048174.2(MUTYH):c.1227G>A (p.Arg409=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +2 more	GLikely benign
Select item 141933	NM_001048174.2(MUTYH):c.1226G>A (p.Arg409Gln)	MUTYH (R437Q +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 134864	NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp)	MUTYH (R437W +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GUncertain significance
Select item 141833	NM_001048174.2(MUTYH):c.1222C>G (p.Leu408Val)	MUTYH (L436V +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 140816	NM_001048174.2(MUTYH):c.1219C>T (p.His407Tyr)	MUTYH (H435Y +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
Select item 127837	NM_001048174.2(MUTYH):c.1217C>T (p.Thr406Met)	MUTYH (T434M +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 233962	NM_001048174.2(MUTYH):c.1193G>T (p.Arg398Leu)	MUTYH (R426L +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 552265	NM_001048174.2(MUTYH):c.1183_1185delinsC (p.Glu395fs)	MUTYH (E280fs +7 more)	Indel (frameshift variant +1 more)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 220923	NM_001048174.2(MUTYH):c.1174C>G (p.Leu392Val)	MUTYH (L420V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 141858	NM_001048174.2(MUTYH):c.1172C>A (p.Ala391Asp)	MUTYH (A419D +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 127831	NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)	MUTYH (E383fs +7 more)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 142604	NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)	MUTYH (P391L +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +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)	Familial colorectal cancer +8 more	GPathogenic/Likely pathogenic
Select item 135981	NM_001048174.2(MUTYH):c.1102+9A>T	MUTYH	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 156509	NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)	MUTYH (Q391* +8 more)	Single nucleotide variant (nonsense +1 more)	Familial colorectal cancer +3 more	GPathogenic
Select item 134860	NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)	MUTYH (A357fs +7 more)	Deletion (frameshift variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 185529	NM_001048174.2(MUTYH):c.1062C>T (p.Ala354=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +2 more	GLikely benign
Select item 41751	NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val)	MUTYH (A359V +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GBenign/Likely benign
Select item 371676	NM_001048174.2(MUTYH):c.994del (p.Arg332fs)	MUTYH (R333fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
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 141246	NM_001048174.2(MUTYH):c.988T>C (p.Phe330Leu)	MUTYH (F358L +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 406829	NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter)	MUTYH (W349* +8 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
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 134862	NM_001048174.2(MUTYH):c.953C>T (p.Ser318Leu)	MUTYH (S346L +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 134861	NM_001048174.2(MUTYH):c.916C>A (p.Pro306Thr)	MUTYH (P334T +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 492067	NM_001048174.2(MUTYH):c.914-8G>A	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 553730	NM_001048174.2(MUTYH):c.914-21T>C	MUTYH	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 371680	NM_001048174.2(MUTYH):c.914-27G>A	MUTYH	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
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 135993	NM_001048174.2(MUTYH):c.900C>T (p.Asp300=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 182695	NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu)	MUTYH (S324L +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 141970	NM_001048174.2(MUTYH):c.882C>G (p.Ser294Arg)	MUTYH (S322R +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GConflicting classifications of pathogenicity
Select item 135992	NM_001048174.2(MUTYH):c.849+3A>C	MUTYH	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 188158	NM_001048174.2(MUTYH):c.833G>A (p.Cys278Tyr)	MUTYH (C306Y +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 183965	NM_001048174.2(MUTYH):c.802C>T (p.Leu268=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 185242	NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)	MUTYH (P295L +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 135991	NM_001048174.2(MUTYH):c.798C>T (p.Arg266=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 182692	NM_001048174.2(MUTYH):c.796C>T (p.Arg266Cys)	MUTYH (R294C +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 142849	NM_001048174.2(MUTYH):c.761C>T (p.Ala254Val)	MUTYH (A282V +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 134857	NM_001048174.2(MUTYH):c.752A>C (p.Asn251Thr)	MUTYH (N279T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 41764	NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)	MUTYH (R274Q +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
Select item 184896	NM_001048174.2(MUTYH):c.730C>T (p.Pro244Ser)	MUTYH (P272S +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 182699	NM_001048174.2(MUTYH):c.729C>T (p.Asp243=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 143003	NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter)	MUTYH (R247* +8 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2 +2 more	GPathogenic
Select item 135990	NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)	MUTYH (V246F +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GLikely pathogenic
Select item 140877	NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)	MUTYH (R245H +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 185274	NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)	MUTYH (R241W +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 187628	NM_001048174.2(MUTYH):c.631G>A (p.Val211Ile)	MUTYH (V239I +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 184309	NM_001048174.2(MUTYH):c.630C>T (p.Asn210=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 135989	NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)	MUTYH (V234M +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 184547	NM_001048174.2(MUTYH):c.612C>T (p.Thr204=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 142271	NM_001048174.2(MUTYH):c.610A>G (p.Thr204Ala)	MUTYH (T232A +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 371678	NM_001048174.2(MUTYH):c.606+14C>G	MUTYH	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 229778	NM_001048174.2(MUTYH):c.595G>A (p.Ala199Thr)	MUTYH (A227T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 185072	NM_001048174.2(MUTYH):c.592A>G (p.Ile198Val)	MUTYH (I226V +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 140830	NM_001048174.2(MUTYH):c.566G>A (p.Arg189His)	MUTYH (R217H +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GUncertain significance OUncertain 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 135988	NM_001048174.2(MUTYH):c.523C>T (p.Arg175Cys)	MUTYH (R203C +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 183746	NM_001048174.2(MUTYH):c.493-5A>G	MUTYH	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 381785	NM_001048174.2(MUTYH):c.492+20G>A	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
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 186056	NM_001048174.2(MUTYH):c.487C>T (p.Arg163Trp)	MUTYH (R191W +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 554017	NM_001048174.2(MUTYH):c.475C>T (p.Gln159Ter)	MUTYH (Q187* +8 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2 +1 more	GPathogenic/Likely pathogenic
Select item 187723	NM_001048174.2(MUTYH):c.467G>A (p.Arg156Gln)	MUTYH (R184Q +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 187318	NM_001048174.2(MUTYH):c.466C>T (p.Arg156Trp)	MUTYH (R184W +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 187280	NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)	MUTYH (R182C +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GPathogenic/Likely pathogenic
Select item 5293	NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	MUTYH (Y165C +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 371677	NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs)	MUTYH (G159fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 184238	NM_001048174.2(MUTYH):c.441T>C (p.Ala147=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 186535	NM_001048174.2(MUTYH):c.427A>G (p.Asn143Asp)	MUTYH (N171D +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 406825	NM_001048174.2(MUTYH):c.420+19_420+31del	MUTYH	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 492045	NM_001048174.2(MUTYH):c.420+16G>A	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 185959	NM_001048174.2(MUTYH):c.409G>A (p.Ala137Thr)	MUTYH (A165T +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 140814	NM_001048174.2(MUTYH):c.397G>C (p.Asp133His)	MUTYH (D161H +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity

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