Related gene-specific medical variations for Gene (Select 5426) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2914276	NM_006231.4(POLE):c.38C>G (p.Pro13Arg)	LOC130009266, POLE (P13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912370	NM_006231.4(POLE):c.62+11C>G	LOC130009266, POLE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844674	NM_006231.4(POLE):c.62+8del	LOC130009266, POLE	Deletion (intron variant)	not provided	GBenign
Select item 2771061	NM_006231.4(POLE):c.62+7G>A	LOC130009266, POLE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2752061	NM_006231.4(POLE):c.62+1G>A	LOC130009266, POLE	Single nucleotide variant (splice donor variant)	Polymerase proofreading-related adenomatous polyposis +1 more	GPathogenic/Likely pathogenic
Select item 2702352	NM_006231.4(POLE):c.49G>T (p.Gly17Cys)	LOC130009266, POLE (G17C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699836	NM_006231.4(POLE):c.8dup (p.Arg4fs)	LOC130009266, POLE (R4fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2695738	NM_006231.4(POLE):c.38_39insG (p.Gly14fs)	LOC130009266, POLE (G14fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2692061	NM_006231.4(POLE):c.62+50A>G	LOC130009266, POLE	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2682050	NM_006231.4(POLE):c.1313A>T (p.Glu438Val)	POLE (E438V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2677939	NM_006231.4(POLE):c.1008T>A (p.Asn336Lys)	POLE (N336K)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12	GUncertain significance
Select item 2677938	NM_006231.4(POLE):c.883A>G (p.Met295Val)	POLE (M295V)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12	GUncertain significance
Select item 2677937	NM_006231.4(POLE):c.923C>T (p.Thr308Ile)	POLE (T308I)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12	GUncertain significance
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 2575181	NM_006231.4(POLE):c.6532-19_6532-18del	POLE	Deletion (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2575180	NM_006231.4(POLE):c.6532-16_6532-12del	POLE	Deletion (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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 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 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 2435145	NM_006231.4(POLE):c.6578C>G (p.Pro2193Arg)	POLE (P2193R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428244	NM_006231.4(POLE):c.62+3G>T	LOC130009266, POLE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2166801	NM_006231.4(POLE):c.41G>C (p.Gly14Ala)	LOC130009266, POLE (G14A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2143611	NM_006231.4(POLE):c.8T>C (p.Leu3Pro)	LOC130009266, POLE (L3P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110393	NM_006231.4(POLE):c.62+7G>C	LOC130009266, POLE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2102822	NM_006231.4(POLE):c.62+4del	LOC130009266, POLE	Deletion (intron variant)	not provided	GUncertain significance
Select item 2035367	NM_006231.4(POLE):c.52_56del (p.Glu18fs)	LOC130009266, POLE (E18fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2032439	NM_006231.4(POLE):c.-13_18dup (p.Gly7fs)	LOC130009266, POLE (G7fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2006807	NM_006231.4(POLE):c.35A>G (p.Asp12Gly)	LOC130009266, POLE (D12G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975185	NM_006231.4(POLE):c.11G>A (p.Arg4Lys)	LOC130009266, POLE (R4K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953485	NM_006231.4(POLE):c.62+10G>A	LOC130009266, POLE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1938964	NM_006231.4(POLE):c.19G>T (p.Gly7Trp)	LOC130009266, POLE (G7W)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 1697434	NM_006231.4(POLE):c.62+21G>C	LOC130009266, POLE	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1697433	NM_006231.4(POLE):c.62+34C>T	LOC130009266, POLE	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1676477	NM_006231.4(POLE):c.6398_6407del (p.Val2133fs)	POLE (V2133fs)	Deletion	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	GLikely pathogenic
Select item 1668493	NM_006231.4(POLE):c.62+17T>A	LOC130009266, POLE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1661068	NM_006231.4(POLE):c.62+12C>T	LOC130009266, POLE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655534	NM_006231.4(POLE):c.62+18G>A	LOC130009266, POLE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654801	NM_006231.4(POLE):c.62+19A>G	LOC130009266, POLE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1618224	NM_006231.4(POLE):c.62+11C>A	LOC130009266, POLE	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1588681	NM_006231.4(POLE):c.62+8G>A	LOC130009266, POLE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1559688	NM_006231.4(POLE):c.62+13C>T	LOC130009266, POLE	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1514158	NM_006231.4(POLE):c.60C>T (p.Ser20=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1507028	NM_006231.4(POLE):c.40G>A (p.Gly14Ser)	LOC130009266, POLE (G14S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1475933	NM_006231.4(POLE):c.15C>G (p.Ser5Arg)	LOC130009266, POLE (S5R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471377	NM_006231.4(POLE):c.17G>T (p.Gly6Val)	LOC130009266, POLE (G6V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1465595	NM_006231.4(POLE):c.62+1G>T	LOC130009266, POLE	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1439655	NM_006231.4(POLE):c.51dup (p.Glu18fs)	LOC130009266, POLE (E18fs)	Duplication (frameshift variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +1 more	GPathogenic
Select item 1369929	NM_006231.4(POLE):c.28C>G (p.Arg10Gly)	LOC130009266, POLE (R10G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356157	NM_006231.4(POLE):c.31G>T (p.Ala11Ser)	LOC130009266, POLE (A11S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319846	NM_006231.4(POLE):c.2648T>G (p.Val883Gly)	POLE (V883G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1211988	NM_006231.4(POLE):c.62+220C>T	LOC130009266, POLE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1155359	NM_006231.4(POLE):c.62+10G>C	LOC130009266, POLE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1128575	NM_006231.4(POLE):c.62+8G>T	LOC130009266, POLE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1124257	NM_006231.4(POLE):c.9G>A (p.Leu3=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 1097598	NM_006231.4(POLE):c.62+5dup	LOC130009266, POLE	Duplication (intron variant)	not provided	GLikely benign
Select item 1094801	NM_006231.4(POLE):c.6T>C (p.Ser2=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1055872	NM_006231.4(POLE):c.13A>T (p.Ser5Cys)	LOC130009266, POLE (S5C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1055605	NM_006231.4(POLE):c.16G>T (p.Gly6Cys)	LOC130009266, POLE (G6C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1054369	NC_000012.11:g.(?_133222176)_133226475del	POLE	Deletion	Colorectal cancer, susceptibility to, 12	GUncertain significance
Select item 1052222	NM_006231.4(POLE):c.23G>A (p.Arg8Gln)	LOC130009266, POLE (R8Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1041786	NM_006231.4(POLE):c.32C>G (p.Ala11Gly)	LOC130009266, POLE (A11G)	Single nucleotide variant (missense variant)	not provided	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 1023111	NM_006231.4(POLE):c.50G>C (p.Gly17Ala)	LOC130009266, POLE (G17A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1022827	NM_006231.4(POLE):c.38C>A (p.Pro13Gln)	LOC130009266, POLE (P13Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1008647	NM_006231.4(POLE):c.-8_1del (p.Met1del)	LOC130009266, POLE (M1del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
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 957998	NM_006231.4(POLE):c.20G>A (p.Gly7Glu)	LOC130009266, POLE (G7E)	Single nucleotide variant (missense variant)	POLE-related disorder +1 more	GUncertain significance
Select item 955781	NM_006231.4(POLE):c.47A>C (p.Asp16Ala)	LOC130009266, POLE (D16A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 952756	NM_006231.4(POLE):c.16G>A (p.Gly6Ser)	LOC130009266, POLE (G6S)	Single nucleotide variant (missense variant)	not provided	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 949899	NM_006231.4(POLE):c.5C>G (p.Ser2Cys)	LOC130009266, POLE (S2C)	Single nucleotide variant (missense variant)	not provided +1 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 945655	NM_006231.4(POLE):c.37C>T (p.Pro13Ser)	LOC130009266, POLE (P13S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 943065	NM_006231.4(POLE):c.13A>G (p.Ser5Gly)	LOC130009266, POLE (S5G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 942215	NM_006231.4(POLE):c.62G>A (p.Arg21Lys)	LOC130009266, POLE (R21K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 928704	NM_006231.4(POLE):c.62+5G>C	LOC130009266, POLE	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 859177	NM_006231.4(POLE):c.56C>T (p.Ala19Val)	LOC130009266, POLE (A19V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 855749	NM_006231.4(POLE):c.52G>A (p.Glu18Lys)	LOC130009266, POLE (E18K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 854727	NM_006231.4(POLE):c.37C>G (p.Pro13Ala)	LOC130009266, POLE (P13A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 852392	NM_006231.4(POLE):c.26G>A (p.Arg9Gln)	LOC130009266, POLE (R9Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 840559	NM_006231.4(POLE):c.14G>A (p.Ser5Asn)	LOC130009266, POLE (S5N)	Single nucleotide variant (missense variant)	not provided	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 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 820718	NM_006231.4(POLE):c.21_24dup (p.Arg9fs)	LOC130009266, POLE (R9fs)	Microsatellite (frameshift variant)	not provided +1 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 795342	NM_006231.4(POLE):c.33G>C (p.Ala11=)	LOC130009266, POLE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 676485	NM_006231.4(POLE):c.62+97T>G	LOC130009266, POLE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 664030	NM_006231.4(POLE):c.58A>G (p.Ser20Gly)	LOC130009266, POLE (S20G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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