C0206711[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 127840	NM_001048174.2(MUTYH):c.1409A>G (p.Gln470Arg)	MUTYH (Q498R +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 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 5294	NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	MUTYH (G382D +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +8 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)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 135990	NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)	MUTYH (V246F +8 more)	Single nucleotide variant (missense variant +1 more)	Pilomatrixoma +3 more	GConflicting classifications of pathogenicity
Select item 140877	NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)	MUTYH (R245H +8 more)	Single nucleotide variant (missense variant +1 more)	Diffuse midline glioma, H3 K27-altered +7 more	GPathogenic/Likely pathogenic
Select item 127846	NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln)	MUTYH (R191Q +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 187280	NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)	MUTYH (R182C +8 more)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 234229	NM_001048174.2(MUTYH):c.305-1G>C	MUTYH	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 142736	NM_001048174.2(MUTYH):c.263G>A (p.Arg88Gln)	MUTYH (R116Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified +5 more	GUncertain significance
Select item 127845	NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter)	MUTYH (R19* +1 more)	Single nucleotide variant (nonsense +2 more)	Familial adenomatous polyposis 2 +4 more	GPathogenic/Likely pathogenic
Select item 265443	NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter)	CTNNB1, LOC126806658 (R95* +1 more)	Single nucleotide variant (nonsense)	not provided +9 more	GPathogenic