"Genetic Services Laboratory, University of Chicago"[submitter] AND "M - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 142440	NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)	MUTYH (R495H +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 182701	NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +3 more	GBenign/Likely benign
Select item 127838	NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)	MUTYH (E480del +7 more)	Microsatellite (inframe_deletion +1 more)	not provided +3 more	GPathogenic
Select item 127837	NM_001048174.2(MUTYH):c.1217C>T (p.Thr406Met)	MUTYH (T434M +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GUncertain significance
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 +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)	Familial adenomatous polyposis 2 +8 more	GPathogenic/Likely pathogenic
Select item 135981	NM_001048174.2(MUTYH):c.1102+9A>T	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 134860	NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)	MUTYH (A357fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
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 483927	NM_001048174.2(MUTYH):c.913G>C (p.Ala305Pro)	MUTYH (A333P +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 135993	NM_001048174.2(MUTYH):c.900C>T (p.Asp300=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +3 more	GLikely benign
Select item 135992	NM_001048174.2(MUTYH):c.849+3A>C	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2 +4 more	GConflicting classifications of pathogenicity
Select item 41765	NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)	MUTYH (R309C +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer +5 more	GConflicting classifications of pathogenicity
Select item 135989	NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)	MUTYH (V234M +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
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 +4 more	GUncertain significance
Select item 140830	NM_001048174.2(MUTYH):c.566G>A (p.Arg189His)	MUTYH (R217H +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GUncertain significance
Select item 238350	NM_001048174.2(MUTYH):c.492+8G>C	MUTYH	Single nucleotide variant (intron variant)	not specified +4 more	GLikely benign
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 +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 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
Select item 1336065	NM_025077.4(TOE1):c.106G>A (p.Val36Ile)	MUTYH, TOE1 (V36I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 764612	NM_025077.4(TOE1):c.196-3C>T	MUTYH, TOE1	Single nucleotide variant (intron variant)	TOE1-related condition +2 more	GBenign/Likely benign
Select item 1336958	NM_025077.4(TOE1):c.492+5G>A	MUTYH, TOE1	Single nucleotide variant (intron variant)	TOE1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 777907	NM_025077.4(TOE1):c.897C>T (p.Ile299=)	MUTYH, TOE1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 445370	NM_025077.4(TOE1):c.1141G>A (p.Glu381Lys)	MUTYH, TOE1 (E381K)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 780001	NM_025077.4(TOE1):c.1176G>A (p.Leu392=)	MUTYH, TOE1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 777908	NM_025077.4(TOE1):c.1379C>T (p.Pro460Leu)	MUTYH, TOE1 (P460L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 28