C3554460[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 240622	NM_006231.4(POLE):c.6820C>G (p.Leu2274Val)	POLE (L2274V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 240621	NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser)	POLE (T2273S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 381926	NM_006231.4(POLE):c.6766G>A (p.Gly2256Arg)	POLE (G2256R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 221175	NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe)	POLE (I2255F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 220842	NM_006231.4(POLE):c.6675C>T (p.Arg2225=)	POLE	Single nucleotide variant (synonymous variant)	Colorectal cancer, susceptibility to, 12 +3 more	GBenign/Likely benign
Select item 405833	NM_006231.4(POLE):c.6673C>T (p.Arg2225Cys)	POLE (R2225C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 246255	NM_006231.4(POLE):c.6658-19C>G	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +2 more	GBenign/Likely benign
Select item 371835	NM_006231.4(POLE):c.6657+16C>T	POLE	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 220837	NM_006231.4(POLE):c.6494G>A (p.Arg2165His)	POLE (R2165H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 221143	NM_006231.4(POLE):c.6453C>T (p.Tyr2151=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 405704	NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys)	POLE (R2149C)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 220866	NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys)	POLE (E2140K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 380224	NM_006231.4(POLE):c.6330+19G>A	POLE	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 380642	NM_006231.4(POLE):c.6330+18C>T	POLE	Single nucleotide variant (intron variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +4 more	GBenign/Likely benign
Select item 380218	NM_006231.4(POLE):c.6330+15G>A	POLE	Single nucleotide variant (intron variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +4 more	GBenign
Select item 413564	NM_006231.4(POLE):c.6321C>T (p.Tyr2107=)	POLE	Single nucleotide variant (synonymous variant)	Colorectal cancer, susceptibility to, 12 +3 more	GLikely benign
Select item 380217	NM_006231.4(POLE):c.6252A>G (p.Ser2084=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 384468	NM_006231.4(POLE):c.6006G>A (p.Ala2002=)	POLE	Single nucleotide variant (synonymous variant)	Colorectal cancer, susceptibility to, 12 +3 more	GLikely benign
Select item 371907	NM_006231.4(POLE):c.5811+16T>C	POLE	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 221083	NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr)	POLE (C1935Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 380216	NM_006231.4(POLE):c.5707C>T (p.Leu1903=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 221106	NM_006231.4(POLE):c.5678+4C>T	POLE	Single nucleotide variant (intron variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +5 more	GBenign/Likely benign
Select item 240566	NM_006231.4(POLE):c.5583A>C (p.Ser1861=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 221105	NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg)	POLE (K1857R)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +6 more	GBenign/Likely benign
Select item 240558	NM_006231.4(POLE):c.5478G>T (p.Arg1826=)	POLE	Single nucleotide variant (synonymous variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +5 more	GBenign/Likely benign
Select item 380429	NM_006231.4(POLE):c.5334C>T (p.Ala1778=)	POLE	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 484480	NM_006231.4(POLE):c.5313G>A (p.Thr1771=)	POLE	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 221104	NM_006231.4(POLE):c.5135C>T (p.Ala1712Val)	POLE (A1712V)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +3 more	GBenign/Likely benign
Select item 240550	NM_006231.4(POLE):c.5124C>T (p.Phe1708=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 240549	NM_006231.4(POLE):c.5046C>T (p.His1682=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 371925	NM_006231.4(POLE):c.4952+11T>A	POLE	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 381786	NM_006231.4(POLE):c.4941C>T (p.Phe1647=)	POLE	Single nucleotide variant (synonymous variant)	Colorectal cancer, susceptibility to, 12 +2 more	GBenign/Likely benign
Select item 473692	NM_006231.4(POLE):c.4759G>A (p.Val1587Ile)	POLE (V1587I)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +3 more	GUncertain significance
Select item 473690	NM_006231.4(POLE):c.4744C>T (p.Pro1582Ser)	POLE (P1582S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 439276	NM_006231.4(POLE):c.4602C>T (p.His1534=)	POLE	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 380231	NM_006231.4(POLE):c.4552-10G>T	POLE	Single nucleotide variant (intron variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +5 more	GBenign
Select item 380214	NM_006231.4(POLE):c.4530A>G (p.Ala1510=)	POLE	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 380213	NM_006231.4(POLE):c.4444+4T>A	POLE	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 380226	NM_006231.4(POLE):c.4290+5C>T	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +3 more	GBenign
Select item 385780	NM_006231.4(POLE):c.4269C>T (p.Ile1423=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 380215	NM_006231.4(POLE):c.4187A>G (p.Asn1396Ser)	POLE (N1396S)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +5 more	GBenign
Select item 486091	NM_006231.4(POLE):c.4158G>A (p.Arg1386=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 240504	NM_006231.4(POLE):c.4150-6C>T	POLE	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 240497	NM_006231.4(POLE):c.4011C>T (p.Ser1337=)	POLE	Single nucleotide variant (synonymous variant)	Colorectal cancer, susceptibility to, 12 +4 more	GLikely benign
Select item 540683	NM_006231.4(POLE):c.3905T>C (p.Leu1302Pro)	POLE (L1302P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 380211	NM_006231.4(POLE):c.3582+17A>G	POLE	Single nucleotide variant (intron variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +5 more	GBenign
Select item 380222	NM_006231.4(POLE):c.3379-5T>C	POLE	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 382257	NM_006231.4(POLE):c.3379-12C>T	POLE	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 240464	NM_006231.4(POLE):c.3378+10A>G	POLE	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 240465	NM_006231.4(POLE):c.3378+7G>T	POLE	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 380212	NM_006231.4(POLE):c.3156G>A (p.Thr1052=)	POLE	Single nucleotide variant (synonymous variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +5 more	GBenign
Select item 380432	NM_006231.4(POLE):c.3126G>A (p.Lys1042=)	POLE	Single nucleotide variant (synonymous variant)	Colorectal cancer, susceptibility to, 12 +3 more	GBenign
Select item 240449	NM_006231.4(POLE):c.2928C>T (p.Arg976=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 2664946	NM_006231.4(POLE):c.2753C>A (p.Ser918Ter)	POLE (S918*)	Single nucleotide variant (nonsense)	Colorectal cancer, susceptibility to, 12	GLikely pathogenic
Select item 240437	NM_006231.4(POLE):c.2602C>T (p.Leu868=)	POLE	Single nucleotide variant (synonymous variant)	Colorectal cancer, susceptibility to, 12 +5 more	GConflicting classifications of pathogenicity
Select item 221167	NM_006231.4(POLE):c.2550C>T (p.Ile850=)	POLE	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 380223	NM_006231.4(POLE):c.2469-15G>A	POLE	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 221103	NM_006231.4(POLE):c.2468+10C>T	POLE	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 484470	NM_006231.4(POLE):c.2343G>A (p.Ala781=)	POLE	Single nucleotide variant (synonymous variant)	Colorectal cancer, susceptibility to, 12 +4 more	GLikely benign
Select item 380225	NM_006231.4(POLE):c.2340G>A (p.Ser780=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 380230	NM_006231.4(POLE):c.2320-13A>G	POLE	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 220785	NM_006231.4(POLE):c.2174-8G>A	POLE	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 386535	NM_006231.4(POLE):c.2174-11G>A	POLE	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 12 +1 more	GConflicting classifications of pathogenicity
Select item 473511	NM_006231.4(POLE):c.2118C>T (p.Ala706=)	POLE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 240422	NM_006231.4(POLE):c.2089C>T (p.Pro697Ser)	POLE (P697S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 221179	NM_006231.4(POLE):c.2083T>A (p.Phe695Ile)	POLE (F695I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 372006	NM_006231.4(POLE):c.2026+9C>T	POLE	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 413534	NM_006231.4(POLE):c.1781C>T (p.Thr594Ile)	POLE (T594I)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +2 more	GConflicting classifications of pathogenicity
Select item 405836	NM_006231.4(POLE):c.1559A>G (p.Gln520Arg)	POLE (Q520R)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 220802	NM_006231.4(POLE):c.1470C>T (p.Asp490=)	POLE	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 240392	NM_006231.4(POLE):c.1405C>T (p.Leu469=)	POLE	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 240389	NM_006231.4(POLE):c.1360-6C>T	POLE	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 371906	NM_006231.4(POLE):c.1359+18C>T	POLE	Single nucleotide variant (intron variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +4 more	GBenign/Likely benign
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 371924	NM_006231.4(POLE):c.1226+13G>A	POLE	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 240370	NM_006231.4(POLE):c.1007A>G (p.Asn336Ser)	POLE (N336S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 380209	NM_006231.4(POLE):c.910-6G>C	POLE	Single nucleotide variant (intron variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +5 more	GBenign
Select item 240632	NM_006231.4(POLE):c.846C>T (p.Pro282=)	POLE	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 240630	NM_006231.4(POLE):c.802-6C>T	POLE	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 220642	NM_006231.4(POLE):c.779G>A (p.Arg260Gln)	POLE (R260Q)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 380210	NM_006231.4(POLE):c.755C>T (p.Ala252Val)	POLE (A252V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 221120	NM_006231.4(POLE):c.555C>T (p.Asp185=)	POLE	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 389081	NM_006231.4(POLE):c.318T>C (p.Ile106=)	POLE	Single nucleotide variant (synonymous variant)	not specified +5 more	GLikely benign
Select item 221182	NM_006231.4(POLE):c.91G>T (p.Ala31Ser)	POLE (A31S)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +3 more	GBenign
Select item 372026	NM_006231.4(POLE):c.63-14C>T	POLE	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 380208	NM_006231.4(POLE):c.62+15C>T	LOC130009266, POLE	Single nucleotide variant (intron variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +5 more	GBenign
Select item 381783	NM_006231.3(POLE):c.-29C>G	LOC130009266, POLE	Single nucleotide variant	Colorectal cancer, susceptibility to, 12 +1 more	GLikely benign

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Items: 87