"Baylor Genetics"[submitter] AND "TOE1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 573559	NM_001128425.2(MUTYH):c.36+4dup	MUTYH, TOE1	Duplication (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 230475	NM_001128425.2(MUTYH):c.36+5G>A	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 246019	NM_001128425.2(MUTYH):c.36+4C>G	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 234074	NM_001128425.2(MUTYH):c.36+3A>T	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 485902	NM_001128425.2(MUTYH):c.36+1G>A	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 483936	NM_001128425.2(MUTYH):c.36G>A (p.Trp12Ter)	MUTYH, TOE1 (W12*)	Single nucleotide variant (5 prime UTR variant +3 more)	Familial adenomatous polyposis 2 +1 more	GPathogenic/Likely pathogenic
Select item 422159	NM_001128425.2(MUTYH):c.35G>A (p.Trp12Ter)	MUTYH, TOE1 (W12*)	Single nucleotide variant (5 prime UTR variant +3 more)	Familial adenomatous polyposis 2 +2 more	GPathogenic/Likely pathogenic
Select item 492030	NM_001128425.2(MUTYH):c.29G>C (p.Arg10Pro)	MUTYH, TOE1 (R10P)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 428284	NM_001128425.2(MUTYH):c.20G>T (p.Arg7Leu)	MUTYH, TOE1 (R7L)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 142941	NM_001128425.2(MUTYH):c.17C>A (p.Ser6Tyr)	TOE1, MUTYH (S6Y)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2 +4 more	GConflicting classifications of pathogenicity
Select item 630514	NM_001128425.2(MUTYH):c.13G>A (p.Val5Ile)	MUTYH, TOE1 (V5I)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 628380	NM_001128425.2(MUTYH):c.10C>T (p.Leu4Phe)	MUTYH, TOE1 (L4F)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 619704	NM_001128425.2(MUTYH):c.-2C>G	MUTYH, TOE1 (A2P)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 1028867	NM_025077.4(TOE1):c.1159G>A (p.Asp387Asn)	TOE1 (D387N)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7 +1 more	GUncertain significance
Select item 1028868	NM_025077.4(TOE1):c.1439G>A (p.Gly480Asp)	TOE1 (G480D)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 7 +1 more	GUncertain significance