"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar - NCBI

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Items: 11

	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 specified +4 more	GBenign/Likely benign
Select item 41755	NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe)	MUTYH (S515F +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GBenign/Likely 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 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 +7 more	GPathogenic/Likely pathogenic
Select item 185242	NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)	MUTYH (P295L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
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 5293	NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	MUTYH (Y165C +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 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 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 138310	NM_025077.4(TOE1):c.-45G>A	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity