"Institute for Biomarker Research, Medical Diagnostic Laboratories, L. - ClinVar

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Items: 46

	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)	not provided +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)	not specified +4 more	GBenign/Likely benign
Select item 184566	NM_001048174.2(MUTYH):c.1464G>A (p.Pro488=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not specified +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)	not specified +3 more	GBenign/Likely benign
Select item 919693	NM_001048174.2(MUTYH):c.1425G>A (p.Gly475=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +1 more	GLikely benign
Select item 127840	NM_001048174.2(MUTYH):c.1409A>G (p.Gln470Arg)	MUTYH (Q498R +7 more)	Single nucleotide variant (missense variant +1 more)	Pilomatrixoma +4 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)	Familial adenomatous polyposis 2 +3 more	GPathogenic/Likely pathogenic
Select item 183787	NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 41754	NM_001048174.2(MUTYH):c.1336C>T (p.Arg446Cys)	MUTYH (R474C +8 more)	Single nucleotide variant (missense variant +1 more)	Pilomatrixoma +5 more	GUncertain significance
Select item 187067	NM_001048174.2(MUTYH):c.1320C>T (p.Thr440=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
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)	Familial adenomatous polyposis 2 +2 more	GLikely benign
Select item 230692	NM_001048174.2(MUTYH):c.1206C>T (p.Pro402=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
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 +4 more	GConflicting classifications of pathogenicity
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 +4 more	GConflicting classifications of pathogenicity
Select item 141858	NM_001048174.2(MUTYH):c.1172C>A (p.Ala391Asp)	MUTYH (A419D +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +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)	Familial adenomatous polyposis 2 +5 more	GConflicting classifications of pathogenicity
Select item 5294	NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	MUTYH (G382D +8 more)	Single nucleotide variant (missense variant +1 more)	Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas +10 more	GPathogenic/Likely pathogenic
Select item 479994	NM_001048174.2(MUTYH):c.1088A>G (p.Gln363Arg)	MUTYH (Q391R +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 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)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 41767	NM_001048174.2(MUTYH):c.930G>C (p.Gln310His)	MUTYH (Q338H +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 142590	NM_001048174.2(MUTYH):c.929A>G (p.Gln310Arg)	MUTYH (Q338R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 135992	NM_001048174.2(MUTYH):c.849+3A>C	MUTYH	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 +4 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)	Pilomatrixoma +7 more	GPathogenic/Likely pathogenic
Select item 406859	NM_001048174.2(MUTYH):c.634G>A (p.Ala212Thr)	MUTYH (A240T +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 379035	NM_001048174.2(MUTYH):c.594C>T (p.Ile198=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 127847	NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val)	MUTYH (I223V +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
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 +4 more	GPathogenic/Likely pathogenic
Select item 138311	NM_001048174.2(MUTYH):c.421-4A>G	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
Select item 185959	NM_001048174.2(MUTYH):c.409G>A (p.Ala137Thr)	MUTYH (A165T +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GUncertain significance
Select item 238346	NM_001048174.2(MUTYH):c.381G>A (p.Lys127=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 182697	NM_001048174.2(MUTYH):c.288C>T (p.Asp96=)	MUTYH (T6I)	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 132760	NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)	MUTYH	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 41760	NM_001048174.2(MUTYH):c.22G>A (p.Val8Met)	MUTYH (V22M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GBenign
Select item 127834	NM_001048174.2(MUTYH):c.14G>A (p.Arg5Gln)	MUTYH (R19Q +1 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2 +4 more	GConflicting classifications of pathogenicity
Select item 135987	NM_001128425.2(MUTYH):c.38C>T (p.Ala13Val)	MUTYH (A13V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +4 more	GUncertain significance
Select item 1244445	NM_001048174.2(MUTYH):c.-7+5C>G	MUTYH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3602629	NM_001048174.2(MUTYH):c.-25T>C	MUTYH	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GBenign
Select item 3381827	NM_001128425.2(MUTYH):c.36+230A>G	MUTYH	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2683773	NM_001128425.2(MUTYH):c.36+217A>G	MUTYH	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 801481	NM_001128425.2(MUTYH):c.36+214G>C	MUTYH	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1810754	NM_001128425.2(MUTYH):c.36+181G>C	MUTYH	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2683766	NM_001128425.2(MUTYH):c.36+119G>A	MUTYH	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3236731	NM_001128425.2(MUTYH):c.36+103G>A	MUTYH	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign

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Items: 46