ClinVar (all) for Orgtrack (Select 506183) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 431193	NM_000059.4(BRCA2):c.6562A>G (p.Lys2188Glu)	BRCA2 (K2188E)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 431192	NM_000059.4(BRCA2):c.4685A>G (p.Gln1562Arg)	BRCA2 (Q1562R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 431191	NM_000059.4(BRCA2):c.4574A>C (p.His1525Pro)	BRCA2 (H1525P)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 431190	NM_000059.4(BRCA2):c.1077A>G (p.Glu359=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 431189	NM_000059.4(BRCA2):c.781G>C (p.Ala261Pro)	BRCA2 (A261P)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 431188	NM_000059.4(BRCA2):c.458C>T (p.Pro153Leu)	BRCA2 (P153L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 431187	NM_007294.4(BRCA1):c.5129del (p.Gly1710fs)	BRCA1 (G1663fs +3 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 431186	NM_007294.4(BRCA1):c.4441G>A (p.Ala1481Thr)	BRCA1 (A1481T +75 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 431185	NM_007294.4(BRCA1):c.2177T>C (p.Leu726Pro)	BRCA1 (L726P +20 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 431184	NM_007294.4(BRCA1):c.954T>A (p.His318Gln)	BRCA1 (H318Q +20 more)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +2 more	GConflicting classifications of pathogenicity
Select item 431183	NM_007294.4(BRCA1):c.886A>G (p.Arg296Gly)	BRCA1 (R296G +19 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 431182	NM_007294.4(BRCA1):c.511A>G (p.Ile171Val)	BRCA1 (I171V +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 415629	NM_000059.4(BRCA2):c.3786A>T (p.Ser1262=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +3 more	GLikely benign
Select item 377573	NM_007294.4(BRCA1):c.5152+15A>G	BRCA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 240808	NM_007294.4(BRCA1):c.4860T>C (p.Thr1620=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 230602	NM_007294.4(BRCA1):c.36A>G (p.Gln12=)	BRCA1	Single nucleotide variant (5 prime UTR variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 220900	NM_007294.4(BRCA1):c.5332+13G>T	BRCA1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 220876	NM_000059.4(BRCA2):c.1909+22dup	BRCA2	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 187076	NM_000059.4(BRCA2):c.7953G>T (p.Arg2651Ser)	BRCA2 (R2651S)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GUncertain significance
Select item 186252	NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys)	LOC126862571, BRCA1 (S1253C +21 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 185119	NM_000059.4(BRCA2):c.627C>A (p.Leu209=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 185001	NM_000059.4(BRCA2):c.1056C>T (p.Tyr352=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 183916	NM_007294.4(BRCA1):c.426C>T (p.Pro142=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 141630	NM_000059.4(BRCA2):c.4531G>A (p.Glu1511Lys)	BRCA2 (E1511K)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 136572	NM_000059.4(BRCA2):c.9087G>A (p.Ala3029=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 136541	NM_007294.4(BRCA1):c.1392C>T (p.Thr464=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 132782	NM_000059.4(BRCA2):c.1909+22del	BRCA2	Deletion	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 132781	NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 132780	NM_000059.4(BRCA2):c.6513G>C (p.Val2171=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 132779	NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 126158	NM_000059.4(BRCA2):c.7806-14T>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 126133	NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=)	BRCA2	Single nucleotide variant (synonymous 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 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 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 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 125843	NM_007294.4(BRCA1):c.5406+8T>C	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 125703	NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=)	BRCA1	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 125554	NM_007294.4(BRCA1):c.2311T>C (p.Leu771=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 125536	NM_007294.4(BRCA1):c.2082C>T (p.Ser694=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 96852	NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)	BRCA2 (I2490T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 91745	NM_000059.4(BRCA2):c.10253_10256del (p.Ile3418fs)	BRCA2	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 55771	NM_007294.4(BRCA1):c.981A>G (p.Thr327=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55741	NM_007294.4(BRCA1):c.889A>C (p.Met297Leu)	BRCA1 (M297L +20 more)	Single nucleotide variant (intron variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 55725	NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser)	BRCA1 (G275S +19 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55708	NM_007294.4(BRCA1):c.795T>C (p.Ser265=)	BRCA1	Single nucleotide variant (synonymous variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55691	NM_007294.4(BRCA1):c.75C>T (p.Pro25=)	BRCA1	Single nucleotide variant (synonymous variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 55622	NM_007294.4(BRCA1):c.5541C>A (p.Cys1847Ter)	BRCA1 (C1847* +80 more)	Single nucleotide variant (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55545	NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu)	BRCA1 (M1783L +79 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 55515	NM_007294.4(BRCA1):c.5310G>A (p.Gly1770=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 55210	NM_007294.4(BRCA1):c.4484+14A>G	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55064	NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys)	BRCA1 (N132K +6 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 54873	NM_007294.4(BRCA1):c.3416G>T (p.Ser1139Ile)	BRCA1, LOC126862571 (S1139I +21 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 54664	NM_007294.4(BRCA1):c.2733A>G (p.Gly911=)	BRCA1	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 54604	NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His)	BRCA1 (Y856H +20 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 54431	NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr)	BRCA1 (D67Y +1 more)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 54146	NM_007294.4(BRCA1):c.114G>A (p.Lys38=)	BRCA1	Single nucleotide variant (synonymous variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
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 52790	NM_000059.4(BRCA2):c.9257-16T>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52692	NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)	BRCA2 (K2950N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 52249	NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn)	BRCA2 (K2339N)	Single nucleotide variant (missense 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 51813	NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51743	NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala)	BRCA2 (V1643A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 51683	NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
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 51643	NM_000059.4(BRCA2):c.4409_4413del (p.Ile1470fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 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 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 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 51406	NM_000059.4(BRCA2):c.314T>G (p.Leu105Ter)	BRCA2 (L105*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 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 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 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 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 51116	NM_000059.4(BRCA2):c.1395A>C (p.Val465=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 51108	NM_000059.4(BRCA2):c.1362A>G (p.Lys454=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51049	NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter)	BRCA2 (R3384*)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 51043	NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41830	NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)	BRCA1 (M1652I +76 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 41827	NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly)	BRCA1 (S1613G +77 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 41826	NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)	BRCA1 (S1512I +75 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 41821	NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)	BRCA1, LOC126862571 (R1347G +21 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 41818	NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg)	BRCA1, LOC126862571 (K1183R +21 more)	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 41815	NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly)	BRCA1 (E1038G +20 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 41814	NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile)	BRCA1 (M1008I +20 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 41812	NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu)	BRCA1 (P871L +20 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 41808	NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn)	BRCA1 (D693N +20 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 41803	NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)	BRCA1 (Q356R +20 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 41572	NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile)	BRCA2 (V3244I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41570	NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)	BRCA2 (A2951T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 41565	NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)	BRCA2 (V2728I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41562	NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)	BRCA2 (H2440R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41558	NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)	BRCA2 (R2034C)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41556	NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met)	BRCA2 (T1915M)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41549	NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)	BRCA2 (D1420Y)	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

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