C3554460[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148282	NM_006231.4(POLE):c.1473+6C>T	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12	GLikely benign
Select item 220802	NM_006231.4(POLE):c.1470C>T (p.Asp490=)	POLE	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 235886	NM_006231.4(POLE):c.1420G>A (p.Val474Ile)	POLE (V474I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 405748	NM_006231.4(POLE):c.1378G>A (p.Val460Met)	POLE (V460M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 372009	NM_006231.4(POLE):c.1360-20C>G	POLE	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 221145	NM_006231.4(POLE):c.1359+9G>A	POLE	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 221066	NM_006231.4(POLE):c.1337G>A (p.Arg446Gln)	POLE (R446Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 252659	NM_006231.4(POLE):c.1309G>A (p.Val437Met)	POLE (V437M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 224587	NM_006231.4(POLE):c.1274A>G (p.Lys425Arg)	POLE (K425R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 845568	NM_006231.4(POLE):c.1226+6G>T	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +1 more	GConflicting classifications of pathogenicity
Select item 240380	NM_006231.4(POLE):c.1171_1173del (p.Lys391del)	POLE (K391del)	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 240376	NM_006231.4(POLE):c.1106+7C>A	POLE	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 372024	NM_006231.4(POLE):c.1055A>C (p.Gln352Pro)	POLE (Q352P)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 405828	NM_006231.4(POLE):c.1016A>T (p.Asp339Val)	POLE (D339V)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 240370	NM_006231.4(POLE):c.1007A>G (p.Asn336Ser)	POLE (N336S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 224589	NM_006231.4(POLE):c.940T>G (p.Ser314Ala)	POLE (S314A)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 221000	NM_006231.4(POLE):c.861T>A (p.Asp287Glu)	POLE (D287E)	Single nucleotide variant (missense variant)	Hereditary cancer +6 more	GConflicting classifications of pathogenicity
Select item 405725	NM_006231.4(POLE):c.850A>G (p.Lys284Glu)	POLE (K284E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 224588	NM_006231.4(POLE):c.844C>T (p.Pro282Ser)	POLE (P282S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity