"Ambry Genetics"[submitter] AND "LOC130009266"[gene] - ClinVar

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

Search results

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 380208	NM_006231.4(POLE):c.62+15C>T	LOC130009266, POLE	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 405710	NM_006231.4(POLE):c.62+5G>A	LOC130009266, POLE	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1932891	NM_006231.4(POLE):c.61A>C (p.Arg21=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1501199	NM_006231.4(POLE):c.60C>G (p.Ser20Arg)	LOC130009266, POLE (S20R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 652038	NM_006231.4(POLE):c.58A>C (p.Ser20Arg)	LOC130009266, POLE (S20R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1023926	NM_006231.4(POLE):c.55G>A (p.Ala19Thr)	LOC130009266, POLE (A19T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1747951	NM_006231.4(POLE):c.54G>A (p.Glu18=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 540774	NM_006231.4(POLE):c.52G>T (p.Glu18Ter)	LOC130009266, POLE (E18*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 240553	NM_006231.4(POLE):c.51C>G (p.Gly17=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 540692	NM_006231.4(POLE):c.49G>A (p.Gly17Ser)	LOC130009266, POLE (G17S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 390601	NM_006231.4(POLE):c.48T>C (p.Asp16=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 955781	NM_006231.4(POLE):c.47A>C (p.Asp16Ala)	LOC130009266, POLE (D16A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 644004	NM_006231.4(POLE):c.47A>T (p.Asp16Val)	LOC130009266, POLE (D16V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2447942	NM_006231.4(POLE):c.45G>T (p.Ala15=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 484559	NM_006231.4(POLE):c.45G>A (p.Ala15=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 567211	NM_006231.4(POLE):c.44C>T (p.Ala15Val)	LOC130009266, POLE (A15V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 645544	NM_006231.4(POLE):c.43G>C (p.Ala15Pro)	LOC130009266, POLE (A15P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 390063	NM_006231.4(POLE):c.42C>A (p.Gly14=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1306641	NM_006231.4(POLE):c.41G>T (p.Gly14Val)	LOC130009266, POLE (G14V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 952454	NM_006231.4(POLE):c.41G>A (p.Gly14Asp)	LOC130009266, POLE (G14D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1736851	NM_006231.4(POLE):c.39A>T (p.Pro13=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 518092	NM_006231.4(POLE):c.39A>G (p.Pro13=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 540767	NM_006231.4(POLE):c.34G>A (p.Asp12Asn)	LOC130009266, POLE (D12N)	Single nucleotide variant (missense variant)	POLE-related disorder +5 more	GUncertain significance
Select item 947051	NM_006231.4(POLE):c.33G>A (p.Ala11=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1006104	NM_006231.4(POLE):c.31G>C (p.Ala11Pro)	LOC130009266, POLE (A11P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 650949	NM_006231.4(POLE):c.31G>A (p.Ala11Thr)	LOC130009266, POLE (A11T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 741705	NM_006231.4(POLE):c.30C>G (p.Arg10=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 540869	NM_006231.4(POLE):c.30C>A (p.Arg10=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 540837	NM_006231.4(POLE):c.30C>T (p.Arg10=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 560842	NM_006231.4(POLE):c.28C>T (p.Arg10Cys)	LOC130009266, POLE (R10C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 852392	NM_006231.4(POLE):c.26G>A (p.Arg9Gln)	LOC130009266, POLE (R9Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 820718	NM_006231.4(POLE):c.21_24dup (p.Arg9fs)	LOC130009266, POLE (R9fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 473541	NM_006231.4(POLE):c.25C>T (p.Arg9Trp)	LOC130009266, POLE (R9W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1102438	NM_006231.4(POLE):c.24G>A (p.Arg8=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2447916	NM_006231.4(POLE):c.23G>C (p.Arg8Pro)	LOC130009266, POLE (R8P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 576620	NM_006231.4(POLE):c.22C>T (p.Arg8Trp)	LOC130009266, POLE (R8W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1608823	NM_006231.4(POLE):c.21G>T (p.Gly7=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 413491	NM_006231.4(POLE):c.21G>A (p.Gly7=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 659144	NM_006231.4(POLE):c.19G>C (p.Gly7Arg)	LOC130009266, POLE (G7R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1477683	NM_006231.4(POLE):c.18C>T (p.Gly6=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3225403	NM_006231.4(POLE):c.17G>C (p.Gly6Ala)	LOC130009266, POLE (G6A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 218680	NM_006231.4(POLE):c.16G>C (p.Gly6Arg)	LOC130009266, POLE (G6R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1551806	NM_006231.4(POLE):c.15C>T (p.Ser5=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2562935	NM_006231.4(POLE):c.12G>A (p.Arg4=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1124257	NM_006231.4(POLE):c.9G>A (p.Leu3=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2625237	NM_006231.4(POLE):c.7C>T (p.Leu3=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 473831	NM_006231.4(POLE):c.7C>G (p.Leu3Val)	LOC130009266, POLE (L3V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1094801	NM_006231.4(POLE):c.6T>C (p.Ser2=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 949899	NM_006231.4(POLE):c.5C>G (p.Ser2Cys)	LOC130009266, POLE (S2C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 824484	NM_006231.4(POLE):c.3G>C (p.Met1Ile)	LOC130009266, POLE (M1I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 540655	NM_006231.4(POLE):c.3G>A (p.Met1Ile)	LOC130009266, POLE (M1I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 473569	NM_006231.4(POLE):c.2T>A (p.Met1Lys)	LOC130009266, POLE (M1K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 246154	NM_006231.4(POLE):c.2T>C (p.Met1Thr)	LOC130009266, POLE (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 405608	NM_006231.4(POLE):c.1A>G (p.Met1Val)	LOC130009266, POLE (M1V)	Single nucleotide variant (missense variant +1 more)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +4 more	GConflicting classifications of pathogenicity
Select item 405585	NM_006231.4(POLE):c.1A>C (p.Met1Leu)	LOC130009266, POLE (M1L)	Single nucleotide variant (missense variant +1 more)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +4 more	GConflicting classifications of pathogenicity
Select item 240415	NM_006231.4(POLE):c.1A>T (p.Met1Leu)	LOC130009266, POLE (M1L)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 12 +3 more	GConflicting classifications of pathogenicity
Select item 820484	NM_006231.4(POLE):c.-1C>T	LOC130009266, POLE	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 484490	NM_006231.4(POLE):c.-4C>T	LOC130009266, POLE	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1751000	NM_006231.4(POLE):c.-5G>A	LOC130009266, POLE	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 826122	NM_006231.4(POLE):c.-5G>T	LOC130009266, POLE	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3311839	NM_018663.3(PXMP2):c.14C>T (p.Ala5Val)	LOC130009266, PXMP2 (A5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519113	NM_018663.3(PXMP2):c.28G>T (p.Ala10Ser)	LOC130009266, PXMP2 (A10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324854	NM_018663.3(PXMP2):c.77T>C (p.Leu26Pro)	LOC130009266, PXMP2 (L26P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236128	NM_018663.3(PXMP2):c.98C>T (p.Pro33Leu)	LOC130009266, PXMP2 (P33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150117	NM_018663.3(PXMP2):c.100G>A (p.Val34Met)	LOC130009266, PXMP2 (V34M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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: 65