C0006142[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 182701	NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 188160	NM_000251.3(MSH2):c.67T>C (p.Phe23Leu)	MSH2 (F23L)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 91101	NM_000251.3(MSH2):c.471C>A (p.Gly157=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign
Select item 91042	NM_000251.3(MSH2):c.2766T>C (p.Phe922=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome 1	GBenign
Select item 138256	NM_000179.3(MSH6):c.984C>T (p.Ser328=)	MSH6	Single nucleotide variant (synonymous variant)	Lynch syndrome +6 more	GBenign/Likely benign
Select item 36583	NM_000179.3(MSH6):c.1345C>T (p.Leu449=)	MSH6	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +6 more	GBenign
Select item 8931	NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)	MSH6 (V878A +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 136501	NM_000465.4(BARD1):c.2212A>G (p.Ile738Val)	BARD1 (I738V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 136500	NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys)	BARD1 (R658C +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 142135	NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg)	BARD1 (C645R +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GBenign/Likely benign
Select item 8045	NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser)	BARD1 (C557S +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +4 more	GBenign/Likely benign
Select item 232599	NM_000465.4(BARD1):c.1052C>T (p.Thr351Met)	BARD1 (T351M +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 127741	NM_000465.4(BARD1):c.620A>G (p.Lys207Arg)	BARD1 (K207R +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 136496	NM_000465.4(BARD1):c.609A>C (p.Gly203=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Hereditary breast ovarian cancer syndrome +4 more	GBenign/Likely benign
Select item 219631	NM_000465.4(BARD1):c.365-7C>T	BARD1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 127737	NM_000465.4(BARD1):c.33G>T (p.Gln11His)	BARD1 (Q11H)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 438899	NM_000465.4(BARD1):c.7G>A (p.Asp3Asn)	BARD1 (D3N)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +2 more	GUncertain significance
Select item 36555	NM_000249.4(MLH1):c.588+11G>C	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome 1	GBenign
Select item 41640	NM_000249.4(MLH1):c.637G>A (p.Val213Met)	MLH1 (V213M +2 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 36557	NM_000249.4(MLH1):c.655A>G (p.Ile219Val)	MLH1 (I219V +2 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 41636	NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg)	MLH1 (P603R +5 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 183971	NM_000038.6(APC):c.6387G>A (p.Ser2129=)	APC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 2133317	NM_005732.4(RAD50):c.656A>G (p.Lys219Arg)	RAD50 (K219R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 259990	NM_006502.3(POLH):c.626G>T (p.Gly209Val)	POLH (G209V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 141664	NM_000535.7(PMS2):c.1557T>C (p.Tyr519=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome 4 +4 more	GBenign/Likely benign
Select item 41704	NM_000535.7(PMS2):c.1532C>T (p.Thr511Met)	PMS2 (T511M +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 91304	NM_000535.7(PMS2):c.1488C>T (p.His496=)	PMS2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GBenign
Select item 416565	NM_000535.7(PMS2):c.988+10A>G	PMS2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 184621	NM_000535.7(PMS2):c.477G>A (p.Val159=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Breast and/or ovarian cancer +5 more	GBenign/Likely benign
Select item 135449	NM_000553.6(WRN):c.970A>G (p.Thr324Ala)	WRN (T324A)	Single nucleotide variant (missense variant)	Werner syndrome +3 more	GBenign/Likely benign
Select item 132686	NM_002485.5(NBN):c.1914+9C>T	LOC126860438, NBN	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 134872	NM_002485.5(NBN):c.1489A>G (p.Thr497Ala)	NBN (T497A +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +6 more	GBenign/Likely benign
Select item 490056	NM_002485.5(NBN):c.37+11A>G	NBN	Single nucleotide variant (intron variant)	Acute lymphoid leukemia +5 more	GBenign/Likely benign
Select item 140918	NM_002485.5(NBN):c.37+5G>A	NBN	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +5 more	GBenign
Select item 137285	NM_000136.3(FANCC):c.1485G>A (p.Leu495=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 134297	NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)	AOPEP, FANCC (Q465R)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 134298	NM_000136.3(FANCC):c.1345G>A (p.Val449Met)	FANCC, AOPEP (V449M)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GBenign
Select item 210976	NM_000136.3(FANCC):c.1330-3C>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 220920	NM_000136.3(FANCC):c.843+4C>T	FANCC, AOPEP	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 134304	NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)	FANCC (G139E)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 255275	NM_000136.3(FANCC):c.408A>G (p.Gln136=)	FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group C +4 more	GBenign
Select item 134301	NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)	FANCC (S26F)	Single nucleotide variant (missense variant)	Fanconi anemia +5 more	GConflicting classifications of pathogenicity
Select item 41700	NM_000368.5(TSC1):c.965T>C (p.Met322Thr)	TSC1 (M322T +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 13938	NM_020975.6(RET):c.2944C>T (p.Arg982Cys)	RET (R982C +17 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1 +11 more	GConflicting classifications of pathogenicity
Select item 92808	NM_000314.8(PTEN):c.-9C>G	PTEN (L171V)	Single nucleotide variant (5 prime UTR variant +1 more)	PTEN hamartoma tumor syndrome	GBenign FDA Recognized database
Select item 2505479	NM_000314.8(PTEN):c.128A>G (p.Glu43Gly)	PTEN (E216G +1 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of breast	GUncertain significance
Select item 92813	NM_000314.8(PTEN):c.132C>T (p.Gly44=)	PTEN	Single nucleotide variant (synonymous variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 138835	NM_000314.8(PTEN):c.1104T>C (p.Asp368=)	PTEN	Single nucleotide variant (synonymous variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 3048	NM_000051.4(ATM):c.146C>G (p.Ser49Cys)	ATM (S49C)	Single nucleotide variant (missense variant)	Familial cancer of breast	GBenign FDA Recognized database
Select item 128455	NM_000051.4(ATM):c.378T>A (p.Asp126Glu)	ATM (D126E)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 132685	NM_000051.4(ATM):c.544G>C (p.Val182Leu)	ATM (V182L)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +5 more	GBenign/Likely benign
Select item 135763	NM_000051.4(ATM):c.591A>T (p.Gly197=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 128460	NM_000051.4(ATM):c.657T>C (p.Cys219=)	ATM	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +6 more	GBenign
Select item 183707	NM_000051.4(ATM):c.735C>T (p.Val245=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome +5 more	GBenign/Likely benign
Select item 216024	NM_000051.4(ATM):c.748C>T (p.Arg250Ter)	ATM (R250*)	Single nucleotide variant (nonsense)	Familial cancer of breast +4 more	GPathogenic
Select item 132714	NM_000051.4(ATM):c.1254A>G (p.Gln418=)	ATM	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +6 more	GBenign/Likely benign
Select item 185779	NM_000051.4(ATM):c.1303T>C (p.Leu435=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 136434	NM_000051.4(ATM):c.1380G>C (p.Thr460=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome +5 more	GBenign/Likely benign
Select item 133602	NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)	ATM (G514D)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 127342	NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)	ATM (F582L)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 127343	NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)	ATM (P604S)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 135740	NM_000051.4(ATM):c.1986T>C (p.Phe662=)	ATM	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 140761	NM_000051.4(ATM):c.2193C>T (p.Tyr731=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +6 more	GBenign/Likely benign
Select item 184290	NM_000051.4(ATM):c.2220A>G (p.Ala740=)	ATM	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 133607	NM_000051.4(ATM):c.2442C>A (p.Asp814Glu)	ATM (D814E)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign
Select item 133610	NM_000051.4(ATM):c.2614C>T (p.Pro872Ser)	ATM (P872S)	Single nucleotide variant (missense variant)	Familial cancer of breast	GBenign FDA Recognized database
Select item 140770	NM_000051.4(ATM):c.2685A>G (p.Leu895=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +6 more	GBenign
Select item 135746	NM_000051.4(ATM):c.2805G>C (p.Thr935=)	ATM	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 135748	NM_000051.4(ATM):c.3150T>C (p.Leu1050=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 142254	NM_000051.4(ATM):c.3154-4G>A	ATM	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 188196	NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn)	ATM (D1099N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 135751	NM_000051.4(ATM):c.3342G>A (p.Lys1114=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 133615	NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg)	ATM (Q1128R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 136441	NM_000051.4(ATM):c.3403-15T>A	ATM	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +5 more	GBenign/Likely benign
Select item 136442	NM_000051.4(ATM):c.3517T>C (p.Leu1173=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome +5 more	GBenign/Likely benign
Select item 142817	NM_000051.4(ATM):c.3772C>A (p.His1258Asn)	ATM (H1258N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 136444	NM_000051.4(ATM):c.3993+5G>T	ATM	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +6 more	GBenign/Likely benign
Select item 128457	NM_000051.4(ATM):c.4578C>T (p.Pro1526=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 219484	NM_000051.4(ATM):c.5375T>C (p.Ile1792Thr)	ATM (I1792T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 136446	NM_000051.4(ATM):c.5497-15G>C	ATM	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 132706	NM_000051.4(ATM):c.5497-8T>C	ATM	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 128459	NM_000051.4(ATM):c.5793T>C (p.Ala1931=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 133628	NM_000051.4(ATM):c.6088A>G (p.Ile2030Val)	C11orf65, ATM (I2030V)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +6 more	GBenign/Likely benign
Select item 140766	NM_000051.4(ATM):c.6095+15T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign
Select item 181975	NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)	ATM, C11orf65 (E2052K)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 133629	NM_000051.4(ATM):c.6235G>A (p.Val2079Ile)	ATM, C11orf65 (V2079I)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GBenign/Likely benign
Select item 140762	NM_000051.4(ATM):c.6572+12G>T	ATM, C11orf65	Single nucleotide variant (intron variant)	not provided +6 more	GBenign
Select item 133631	NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro)	C11orf65, ATM (L2332P)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GBenign FDA Recognized database
Select item 135785	NM_000051.4(ATM):c.8730C>G (p.Leu2910=)	C11orf65, ATM	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome +5 more	GBenign/Likely benign
Select item 132696	NM_000051.4(ATM):c.8786+8A>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +5 more	GBenign/Likely 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 380230	NM_006231.4(POLE):c.2320-13A>G	POLE	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 240422	NM_006231.4(POLE):c.2089C>T (p.Pro697Ser)	POLE (P697S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 125976	NM_000059.4(BRCA2):c.-11C>T	BRCA2	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 38033	NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg)	BRCA2 (K21R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 52187	NM_000059.4(BRCA2):c.68-7T>A	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51234	NM_000059.4(BRCA2):c.198A>G (p.Gln66=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51045	NM_000059.4(BRCA2):c.1011C>T (p.Asn337=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 96762	NM_000059.4(BRCA2):c.1166C>A (p.Pro389Gln)	BRCA2 (P389Q)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51158	NM_000059.4(BRCA2):c.1627C>A (p.His543Asn)	BRCA2 (H543N)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity

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