"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 479982	NM_001048174.2(MUTYH):c.*4C>G	MUTYH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 1809568	NM_001048174.2(MUTYH):c.1539A>G (p.Ala513=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 464705	NM_001048174.2(MUTYH):c.1538C>A (p.Ala513Glu)	MUTYH (A541E +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 127842	NM_001048174.2(MUTYH):c.1516C>T (p.Arg506Trp)	MUTYH (R534W +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 231635	NM_001048174.2(MUTYH):c.1512C>A (p.Phe504Leu)	MUTYH (F532L +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 231253	NM_001048174.2(MUTYH):c.1509T>C (p.Asn503=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 182685	NM_001048174.2(MUTYH):c.1504G>T (p.Asp502Tyr)	MUTYH (D530Y +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
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 229825	NM_001048174.2(MUTYH):c.1500C>T (p.Val500=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 185573	NM_001048174.2(MUTYH):c.1483C>T (p.Arg495Cys)	MUTYH (R523C +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
Select item 187354	NM_001048174.2(MUTYH):c.1471C>T (p.Arg491Trp)	MUTYH (R519W +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 1809569	NM_001048174.2(MUTYH):c.1468A>T (p.Ser490Cys)	MUTYH (S375C +12 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 184566	NM_001048174.2(MUTYH):c.1464G>A (p.Pro488=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
Select item 41755	NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe)	MUTYH (S515F +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 183791	NM_001048174.2(MUTYH):c.1446G>A (p.Arg482=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1144710	NM_001048174.2(MUTYH):c.1435-7T>C	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 801227	NM_001048174.2(MUTYH):c.1432A>G (p.Met478Val)	MUTYH (M363V +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 238339	NM_001048174.2(MUTYH):c.1429T>G (p.Cys477Gly)	MUTYH (C505G +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
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 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 923658	NM_001048174.2(MUTYH):c.1396T>C (p.Phe466Leu)	MUTYH (F351L +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
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 233982	NM_001048174.2(MUTYH):c.1387A>T (p.Lys463Ter)	MUTYH (K491* +7 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 182701	NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
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 233896	NM_001048174.2(MUTYH):c.1347G>A (p.Thr449=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +3 more	GLikely benign
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 933734	NM_001048174.2(MUTYH):c.1339T>C (p.Trp447Arg)	MUTYH (W462R +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 187172	NM_001048174.2(MUTYH):c.1337G>A (p.Arg446His)	MUTYH (R474H +7 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 1330005	NM_001048174.2(MUTYH):c.1330G>T (p.Gly444Cys)	MUTYH (G329C +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 186417	NM_001048174.2(MUTYH):c.1330G>C (p.Gly444Arg)	MUTYH (G472R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 187067	NM_001048174.2(MUTYH):c.1320C>T (p.Thr440=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not provided +2 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 464690	NM_001048174.2(MUTYH):c.1272del (p.Tyr425fs)	MUTYH (Y436fs +6 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 142069	NM_001048174.2(MUTYH):c.1247A>G (p.His416Arg)	MUTYH (H444R +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 135984	NM_001048174.2(MUTYH):c.1232T>C (p.Leu411Pro)	MUTYH (L439P +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
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 185327	NM_001048174.2(MUTYH):c.1218G>A (p.Thr406=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
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 230692	NM_001048174.2(MUTYH):c.1206C>T (p.Pro402=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 619703	NM_001048174.2(MUTYH):c.1205C>G (p.Pro402Arg)	MUTYH (P430R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 41753	NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)	MUTYH (R426C +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 619702	NM_001048174.2(MUTYH):c.1190A>G (p.Gln397Arg)	MUTYH (Q425R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 41752	NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)	MUTYH (L420M +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 464680	NM_001048174.2(MUTYH):c.1172C>T (p.Ala391Val)	MUTYH (A419V +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +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 185272	NM_001048174.2(MUTYH):c.1165C>T (p.Arg389Cys)	MUTYH (R417C +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 141150	NM_001048174.2(MUTYH):c.1151C>T (p.Ser384Leu)	MUTYH (S412L +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 127831	NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)	MUTYH (E383fs +7 more)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 439220	NM_001048174.2(MUTYH):c.1134C>T (p.Ser378=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +3 more	GLikely benign
Select item 414158	NM_001048174.2(MUTYH):c.1131G>A (p.Pro377=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
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 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)	Familial colorectal cancer +4 more	GPathogenic/Likely pathogenic
Select item 230670	NM_001048174.2(MUTYH):c.1054C>G (p.Pro352Ala)	MUTYH (P380A +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 439219	NM_001048174.2(MUTYH):c.1037C>T (p.Thr346Ile)	MUTYH (T374I +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GUncertain significance
Select item 41751	NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val)	MUTYH (A359V +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 135980	NM_001048174.2(MUTYH):c.1007G>A (p.Arg336His)	MUTYH (R364H +7 more)	Single nucleotide variant (missense variant +1 more)	MUTYH-related disorder +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 801226	NM_001048174.2(MUTYH):c.973C>T (p.Leu325=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 485903	NM_001048174.2(MUTYH):c.971C>T (p.Thr324Ile)	MUTYH (T352I +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 186251	NM_001048174.2(MUTYH):c.954G>A (p.Ser318=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
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 483900	NM_001048174.2(MUTYH):c.943C>T (p.Leu315=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 127836	NM_001048174.2(MUTYH):c.929_930delinsGC (p.Gln310Arg)	MUTYH (Q321R +7 more)	Indel (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 142590	NM_001048174.2(MUTYH):c.929A>G (p.Gln310Arg)	MUTYH (Q338R +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GBenign/Likely benign
Select item 232478	NM_001048174.2(MUTYH):c.923C>T (p.Thr308Ile)	MUTYH (T336I +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GConflicting classifications of pathogenicity
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 132703	NM_001048174.2(MUTYH):c.914-9C>T	MUTYH	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 220137	NM_001048174.2(MUTYH):c.913+3G>A	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2 +2 more	GConflicting classifications of pathogenicity
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 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 439221	NM_001048174.2(MUTYH):c.877G>C (p.Gly293Arg)	MUTYH (G321R +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
Select item 230146	NM_001048174.2(MUTYH):c.877G>A (p.Gly293Arg)	MUTYH (G321R +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 801229	NM_001048174.2(MUTYH):c.850G>A (p.Val284Met)	MUTYH (V169M +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 41766	NM_001048174.2(MUTYH):c.850-2A>G	MUTYH	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 135992	NM_001048174.2(MUTYH):c.849+3A>C	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2 +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 41765	NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)	MUTYH (R309C +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 141135	NM_001048174.2(MUTYH):c.836G>A (p.Arg279Gln)	MUTYH (R307Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 230638	NM_001048174.2(MUTYH):c.828C>G (p.Ser276Arg)	MUTYH (S304R +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 246503	NM_001048174.2(MUTYH):c.809G>A (p.Ser270Asn)	MUTYH (S298N +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 230487	NM_001048174.2(MUTYH):c.797G>A (p.Arg266His)	MUTYH (R294H +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 759022	NM_001048174.2(MUTYH):c.774G>A (p.Gly258=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 182691	NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)	MUTYH (G258E +6 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GPathogenic/Likely pathogenic
Select item 232218	NM_001048174.2(MUTYH):c.752A>G (p.Asn251Ser)	MUTYH (N279S +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GConflicting classifications of pathogenicity
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 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 378184	NM_001048174.2(MUTYH):c.704+9T>C	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign

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