C2675520[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 233

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 882070	NM_000059.3(BRCA2):c.-220G>T	BRCA2, LOC106721785	Single nucleotide variant	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 311659	NM_000059.3(BRCA2):c.-210A>G	BRCA2, LOC106721785	Single nucleotide variant	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GUncertain significance
Select item 209599	NM_000059.4(BRCA2):c.-175C>T	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 264878	NM_000059.4(BRCA2):c.-59_-57del	BRCA2, LOC106721785	Deletion (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 209600	NM_000059.4(BRCA2):c.-52A>G	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 438975	NM_000059.4(BRCA2):c.-40+7G>T	BRCA2, LOC106721785	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 125965	NM_000059.4(BRCA2):c.-26G>A	BRCA2	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 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 37734	NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)	BRCA2 (Y42C)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37758	NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser)	BRCA2 (N60S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 884015	NM_000059.4(BRCA2):c.184T>C (p.Phe62Leu)	BRCA2 (F62L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +1 more	GUncertain significance
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 135794	NM_000059.4(BRCA2):c.267G>A (p.Pro89=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 236846	NM_000059.4(BRCA2):c.316+13A>G	BRCA2	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 51430	NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)	BRCA2 (N108S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 51644	NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg)	BRCA2 (Q147R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37941	NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)	BRCA2 (K169R)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 51802	NM_000059.4(BRCA2):c.517-4C>G	BRCA2	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 51801	NM_000059.4(BRCA2):c.517-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 311660	NM_000059.4(BRCA2):c.561G>A (p.Glu187=)	BRCA2	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group D1 +1 more	GUncertain significance
Select item 51959	NM_000059.4(BRCA2):c.587G>T (p.Ser196Ile)	BRCA2 (S196I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 91437	NM_000059.4(BRCA2):c.608C>A (p.Thr203Asn)	BRCA2 (T203N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 569483	NM_000059.4(BRCA2):c.628A>G (p.Ile210Val)	BRCA2 (I210V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GUncertain significance
Select item 883271	NM_000059.4(BRCA2):c.632-3C>T	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 9342	NM_000059.4(BRCA2):c.658_659del (p.Val220fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 91455	NM_000059.4(BRCA2):c.679G>A (p.Ala227Thr)	BRCA2 (A227T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 883272	NM_000059.4(BRCA2):c.844C>G (p.His282Asp)	BRCA2 (H282D)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +2 more	GConflicting classifications of pathogenicity
Select item 52598	NM_000059.4(BRCA2):c.847A>G (p.Ile283Val)	BRCA2 (I283V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 41567	NM_000059.4(BRCA2):c.865A>C (p.Asn289His)	BRCA2 (N289H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 215626	NM_000059.4(BRCA2):c.909T>G (p.Ser303=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 823246	NM_000059.4(BRCA2):c.942A>G (p.Lys314=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 38241	NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser)	BRCA2	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +7 more	GBenign/Likely benign
Select item 52869	NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser)	BRCA2 (N319S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 38248	NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)	BRCA2 (N319T)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 311661	NM_000059.4(BRCA2):c.963A>G (p.Gln321=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 38258	NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln)	BRCA2 (K322Q)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 52898	NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg)	BRCA2 (S326R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51048	NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr)	BRCA2 (A338T)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 9329	NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)	BRCA2 (N372H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 141867	NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln)	BRCA2 (K382Q)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +7 more	GConflicting classifications of pathogenicity
Select item 41541	NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)	BRCA2 (S384F)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 882430	NM_000059.4(BRCA2):c.1224G>A (p.Met408Ile)	BRCA2 (M408I)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +2 more	GConflicting classifications of pathogenicity
Select item 37731	NM_000059.4(BRCA2):c.1238del (p.Leu413fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51091	NM_000059.4(BRCA2):c.1247T>G (p.Ile416Ser)	BRCA2 (I416S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 230864	NM_000059.4(BRCA2):c.1274A>G (p.Glu425Gly)	BRCA2 (E425G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +3 more	GConflicting classifications of pathogenicity
Select item 51093	NM_000059.4(BRCA2):c.1275A>G (p.Glu425=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 125943	NM_000059.4(BRCA2):c.1365A>G (p.Ser455=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37741	NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu)	BRCA2 (A487E)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 41542	NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr)	BRCA2 (I505T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37754	NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 91757	NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp)	BRCA2 (N588D)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 51192	NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)	BRCA2 (D596H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51193	NM_000059.4(BRCA2):c.1788T>C (p.Asp596=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41543	NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)	BRCA2 (T598A)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51197	NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His)	BRCA2 (Y600H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37768	NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile)	BRCA2 (T630I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 182282	NM_000059.4(BRCA2):c.1909+9_1909+10del	BRCA2	Deletion (intron variant)	Fanconi anemia +5 more	GBenign/Likely benign
Select item 51230	NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37770	NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)	BRCA2 (P655R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 184028	NM_000059.4(BRCA2):c.2025A>G (p.Thr675=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 96780	NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)	BRCA2 (I729T)	Single nucleotide variant (missense variant)	Ovarian cancer +13 more	GConflicting classifications of pathogenicity
Select item 125979	NM_000059.4(BRCA2):c.2229T>C (p.His743=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37778	NM_000059.4(BRCA2):c.2240A>G (p.Glu747Gly)	BRCA2 (E747G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +5 more	GConflicting classifications of pathogenicity
Select item 41544	NM_000059.4(BRCA2):c.2350A>G (p.Met784Val)	BRCA2 (M784V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 136556	NM_000059.4(BRCA2):c.2412A>G (p.Glu804=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 51278	NM_000059.4(BRCA2):c.2416G>C (p.Asp806His)	BRCA2 (D806H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 185410	NM_000059.4(BRCA2):c.2526A>G (p.Val842=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 51302	NM_000059.4(BRCA2):c.2538A>C (p.Ser846=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51305	NM_000059.4(BRCA2):c.2550A>G (p.Gln850=)	BRCA2	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 481515	NM_000059.4(BRCA2):c.2596G>A (p.Glu866Lys)	BRCA2 (E866K)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 51314	NM_000059.4(BRCA2):c.2606C>T (p.Ser869Leu)	BRCA2 (S869L)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GConflicting classifications of pathogenicity
Select item 51343	NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser)	BRCA2	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51349	NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)	BRCA2 (D935N)	Single nucleotide variant (missense variant)	Wilms tumor 1 +12 more	GBenign/Likely benign
Select item 37801	NM_000059.4(BRCA2):c.2803G>C (p.Asp935His)	BRCA2 (D935H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51366	NM_000059.4(BRCA2):c.2883G>A (p.Gln961=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37807	NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu)	BRCA2 (S973L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 51370	NM_000059.4(BRCA2):c.2919G>A (p.Ser973=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51379	NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile)	BRCA2	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41545	NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)	BRCA2 (N991D)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51381	NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg)	BRCA2 (L996R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 184180	NM_000059.4(BRCA2):c.3225T>C (p.Ser1075=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 96788	NM_000059.4(BRCA2):c.3226G>A (p.Val1076Ile)	BRCA2 (V1076I)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 51435	NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 126010	NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 311662	NM_000059.4(BRCA2):c.3415A>C (p.Lys1139Gln)	BRCA2 (K1139Q)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +2 more	GConflicting classifications of pathogenicity
Select item 51465	NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val)	BRCA2 (M1149V)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +8 more	GBenign/Likely benign
Select item 233535	NM_000059.4(BRCA2):c.3447G>A (p.Met1149Ile)	BRCA2 (M1149I)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 187721	NM_000059.4(BRCA2):c.3495T>C (p.His1165=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 186700	NM_000059.4(BRCA2):c.3497T>A (p.Val1166Asp)	BRCA2 (V1166D)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +3 more	GConflicting classifications of pathogenicity
Select item 41546	NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu)	BRCA2 (S1172L)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51481	NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41548	NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp)	BRCA2 (G1194D)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 126022	NM_000059.4(BRCA2):c.3807T>C (p.Val1269=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51531	NM_000059.4(BRCA2):c.3824T>C (p.Ile1275Thr)	BRCA2 (I1275T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 37863	NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr)	BRCA2 (C1290Y)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51589	NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51592	NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu)	BRCA2 (I1364L)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 3062039	NM_000059.4(BRCA2):c.4125_4138del (p.Glu1375fs)	BRCA2 (E1375fs)	Deletion (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GPathogenic

<< First< Prev

Page of 3