"GeneDx"[submitter] AND "TOE1"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 509968	NM_001128425.2(MUTYH):c.36+20C>T	TOE1, MUTYH	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2 +2 more	GLikely benign
Select item 371683	NM_001128425.2(MUTYH):c.36+20C>G	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2 +2 more	GLikely benign
Select item 182687	NM_001128425.2(MUTYH):c.36+20C>A	TOE1, MUTYH	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 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
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 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 823495	NM_001128425.2(MUTYH):c.32T>G (p.Leu11Arg)	MUTYH, TOE1 (L11R)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 414151	NM_001128425.2(MUTYH):c.22C>T (p.Leu8=)	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2 +2 more	GLikely benign
Select item 230893	NM_001128425.2(MUTYH):c.17C>G (p.Ser6Cys)	MUTYH, TOE1 (S6C)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 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 420894	NM_001128425.2(MUTYH):c.9_10delinsAA (p.Leu4Ile)	MUTYH, TOE1 (L4I)	Indel (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 230848	NM_001128425.2(MUTYH):c.2T>C (p.Met1Thr)	MUTYH, TOE1 (M1T +1 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 231593	NM_001128425.2(MUTYH):c.-4G>A	MUTYH, TOE1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2663366	NM_001128425.2(MUTYH):c.-6G>T	MUTYH, TOE1 (A3D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 380353	NM_001128425.2(MUTYH):c.-13A>C	MUTYH, TOE1 (S5R)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 509625	NM_001128425.2(MUTYH):c.-37G>A	TOE1, MUTYH	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 1218428	NC_000001.11:g.45340694G>A	MUTYH, TOE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221523	NC_000001.11:g.45340760C>T	MUTYH, TOE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275525	NM_025077.4(TOE1):c.76T>G (p.Ser26Ala)	TOE1 (S26A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1289869	NM_025077.4(TOE1):c.196-42G>A	TOE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1307712	NM_025077.4(TOE1):c.204T>G (p.Ser68Arg)	TOE1 (S68R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 417747	NM_025077.4(TOE1):c.443T>A (p.Phe148Tyr)	TOE1 (F148Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1216637	NM_025077.4(TOE1):c.638C>A (p.Thr213Asn)	TOE1 (T213N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155133	NM_025077.4(TOE1):c.718G>A (p.Val240Met)	TOE1 (V240M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 523872	NM_025077.4(TOE1):c.733G>T (p.Glu245Ter)	TOE1 (E245*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1036796	NM_025077.4(TOE1):c.745C>T (p.Arg249Trp)	TOE1 (R249W)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 690338	NM_025077.4(TOE1):c.757C>T (p.Arg253Trp)	TOE1 (R253W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 524117	NM_025077.4(TOE1):c.940_941del (p.Gln314fs)	TOE1 (Q314fs)	Microsatellite (frameshift variant)	Pontocerebellar hypoplasia type 7 +1 more	GConflicting classifications of pathogenicity
Select item 1312238	NM_025077.4(TOE1):c.1016G>A (p.Arg339Gln)	TOE1 (R339Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 30