"Revvity Omics, Revvity"[submitter] AND "MUTYH"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1324752	NM_001048174.2(MUTYH):c.1434+1G>C	MUTYH	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
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 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 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 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 1058119	NM_001048174.2(MUTYH):c.1264A>G (p.Lys422Glu)	MUTYH (K307E +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 406824	NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter)	MUTYH (Q414* +7 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
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 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 140874	NM_001048174.2(MUTYH):c.1102+1G>A	MUTYH	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 2 +3 more	GPathogenic/Likely pathogenic
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 134863	NM_001048174.2(MUTYH):c.1057G>T (p.Gly353Trp)	MUTYH (G381W +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
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 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 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 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 449417	NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp)	MUTYH (R274W +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 186651	NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter)	MUTYH (Q267* +7 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 246369	NM_001048174.2(MUTYH):c.694C>T (p.Gln232Ter)	MUTYH (Q260* +7 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 141595	NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp)	MUTYH (G183D +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GPathogenic/Likely pathogenic
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)	Familial adenomatous polyposis 2 +3 more	GPathogenic/Likely pathogenic
Select item 185653	NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu)	MUTYH (P157L +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GPathogenic/Likely pathogenic
Select item 490036	NM_001048174.2(MUTYH):c.383G>T (p.Trp128Leu)	MUTYH (W156L +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 927272	NM_001048174.2(MUTYH):c.378+1G>T	MUTYH	Single nucleotide variant (splice donor variant +1 more)	Familial adenomatous polyposis 2 +1 more	GLikely pathogenic
Select item 233094	NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp)	MUTYH	Duplication (inframe_insertion +2 more)	Familial adenomatous polyposis 2 +2 more	GPathogenic/Likely pathogenic
Select item 186819	NM_001048174.2(MUTYH):c.305-1G>A	MUTYH	Single nucleotide variant (splice acceptor variant +1 more)	Familial adenomatous polyposis 2 +1 more	GPathogenic
Select item 184976	NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter)	MUTYH (W103* +6 more)	Single nucleotide variant (nonsense +2 more)	Familial adenomatous polyposis 2 +2 more	GPathogenic/Likely pathogenic
Select item 1697954	NM_001048174.2(MUTYH):c.200C>A (p.Ala67Asp)	MUTYH (A67D +5 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 859310	NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter)	MUTYH (Y56* +5 more)	Single nucleotide variant (nonsense +3 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2437176	NM_025077.4(TOE1):c.20A>G (p.Asp7Gly)	MUTYH, TOE1 (D7G)	Single nucleotide variant (missense variant +2 more)	Pontocerebellar hypoplasia type 7	GUncertain significance

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Items: 40