C3272841[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2583841	NM_001048174.2(MUTYH):c.1283_1284del (p.Tyr428fs)	MUTYH (Y313fs +12 more)	Microsatellite (frameshift variant +1 more)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 2573244	NM_001048174.2(MUTYH):c.1269dup (p.Thr424fs)	MUTYH (T309fs +12 more)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic/Likely pathogenic
Select item 2673999	NM_001048174.2(MUTYH):c.960del (p.Trp321fs)	MUTYH (W206fs +12 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 2673801	NM_001048174.2(MUTYH):c.862C>T (p.Gln288Ter)	MUTYH (Q173* +12 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 936532	NM_001048174.2(MUTYH):c.849A>G (p.Arg283=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2	GConflicting classifications of pathogenicity
Select item 2673800	NM_001048174.2(MUTYH):c.704+1G>C	MUTYH	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 2673802	NM_001048174.2(MUTYH):c.619del (p.Val207fs)	MUTYH (V115fs +12 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2 +1 more	GPathogenic
Select item 3072452	NM_001048174.2(MUTYH):c.606+1G>A	MUTYH	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 2	GLikely pathogenic
Select item 1992918	NM_001048174.2(MUTYH):c.497dup (p.Glu167fs)	MUTYH (E168fs +7 more)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 545821	NM_001048174.2(MUTYH):c.381del (p.Lys127fs)	MUTYH (K128fs +7 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1076845	NM_001048174.2(MUTYH):c.376_377del (p.Gln126fs)	MUTYH (Q126fs +6 more)	Deletion (frameshift variant +2 more)	Familial adenomatous polyposis 2	GPathogenic
Select item 485894	NM_001048174.2(MUTYH):c.264+1G>T	MUTYH	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 2 +1 more	GLikely pathogenic
Select item 1765404	NM_001048174.2(MUTYH):c.47del (p.Ala16fs)	MUTYH (A16fs +1 more)	Deletion (frameshift variant +2 more)	Familial adenomatous polyposis 2 +1 more	GPathogenic
Select item 142198	NM_000455.5(STK11):c.1012G>A (p.Val338Met)	LOC130062899, STK11 (V338M)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +6 more	GConflicting classifications of pathogenicity