"St. Jude Molecular Pathology, St. Jude Children's Research Hospital"[ - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 220292	NM_000059.4(BRCA2):c.82A>G (p.Ser28Gly)	BRCA2 (S28G)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance
Select item 91774	NM_000059.4(BRCA2):c.232C>T (p.Pro78Ser)	BRCA2 (P78S)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 37949	NM_000059.4(BRCA2):c.518del (p.Gly173Valfs)	BRCA2	Deletion (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 441524	NM_000059.4(BRCA2):c.562G>A (p.Val188Met)	BRCA2 (V188M)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GUncertain significance
Select item 52326	NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr)	BRCA2 (A248T)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 224457	NM_000059.4(BRCA2):c.1462A>G (p.Ile488Val)	BRCA2 (I488V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
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 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 182282	NM_000059.4(BRCA2):c.1909+9_1909+10del	BRCA2	Deletion (intron variant)	Fanconi anemia +5 more	GBenign/Likely benign
Select item 187582	NM_000059.4(BRCA2):c.3071_3073del (p.Ile1024del)	BRCA2	Deletion (inframe_deletion)	Hereditary breast ovarian cancer syndrome +3 more	GUncertain significance
Select item 96786	NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg)	BRCA2 (K1058R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 231530	NM_000059.4(BRCA2):c.3900G>A (p.Met1300Ile)	BRCA2 (M1300I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GConflicting classifications of pathogenicity
Select item 37866	NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile)	BRCA2 (V1306I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51630	NM_000059.4(BRCA2):c.4315G>A (p.Ala1439Thr)	BRCA2 (A1439T)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 51653	NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs)	BRCA2 (E1493fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37910	NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg)	BRCA2 (G1529R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37914	NM_000059.4(BRCA2):c.4637T>C (p.Phe1546Ser)	BRCA2 (F1546S)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GConflicting classifications of pathogenicity
Select item 142527	NM_000059.4(BRCA2):c.4695G>T (p.Lys1565Asn)	BRCA2 (K1565N)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 37928	NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn)	BRCA2 (S1617N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 37936	NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)	BRCA2 (Y1655*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 184360	NM_000059.4(BRCA2):c.5023T>C (p.Cys1675Arg)	BRCA2 (C1675R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 185896	NM_000059.4(BRCA2):c.5200G>A (p.Glu1734Lys)	BRCA2 (E1734K)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 438988	NM_000059.4(BRCA2):c.5201_5205delinsGAAAAG (p.Glu1734fs)	BRCA2 (E1734fs)	Indel (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37959	NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 142634	NM_000059.4(BRCA2):c.5498A>G (p.Asn1833Ser)	BRCA2 (N1833S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 37973	NM_000059.4(BRCA2):c.5554G>A (p.Val1852Ile)	BRCA2 (V1852I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 37974	NM_000059.4(BRCA2):c.5575A>G (p.Ile1859Val)	BRCA2 (I1859V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 96828	NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg)	BRCA2 (H1916R)	Single nucleotide variant (missense variant)	not specified +11 more	GConflicting classifications of pathogenicity
Select item 38005	NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr)	BRCA2 (H1966Y)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 9325	NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)	BRCA2 (S1982fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic FDA Recognized database
Select item 38027	NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys)	BRCA2 (S2072C)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +6 more	GConflicting classifications of pathogenicity
Select item 9318	NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38051	NM_000059.4(BRCA2):c.6541G>C (p.Gly2181Arg)	BRCA2 (G2181R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 38052	NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu)	BRCA2 (P2187L)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 928554	NM_000059.4(BRCA2):c.6611C>A (p.Pro2204His)	BRCA2 (P2204H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 52174	NM_000059.4(BRCA2):c.6741T>A (p.Ser2247Arg)	BRCA2 (S2247R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 52256	NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)	BRCA2 (A2351T)	Single nucleotide variant (missense variant)	not specified +12 more	GConflicting classifications of pathogenicity
Select item 91475	NM_000059.4(BRCA2):c.7354A>G (p.Asn2452Asp)	BRCA2 (N2452D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 231555	NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del)	BRCA2 (E2476del)	Microsatellite (inframe_deletion)	Fanconi anemia complementation group D1 +11 more	GConflicting classifications of pathogenicity
Select item 41563	NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)	BRCA2 (R2502C)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 141695	NM_000059.4(BRCA2):c.7706G>A (p.Gly2569Asp)	BRCA2 (G2569D)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 232794	NM_000059.4(BRCA2):c.7977-4_7977-3del	BRCA2	Deletion (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GConflicting classifications of pathogenicity
Select item 2663983	NM_000059.4(BRCA2):c.8048C>T (p.Ala2683Val)	BRCA2 (A1039V +3 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 186355	NM_000059.4(BRCA2):c.8293T>G (p.Cys2765Gly)	BRCA2 (C2765G)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 142972	NM_000059.4(BRCA2):c.8611G>C (p.Glu2871Gln)	BRCA2 (E2871Q)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 52655	NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile)	BRCA2 (L2890I)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 41568	NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His)	BRCA2 (R2896H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 419320	NM_000059.4(BRCA2):c.8708A>G (p.Glu2903Gly)	BRCA2 (E2903G)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GUncertain significance
Select item 38194	NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His)	BRCA2 (R2973H)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 38200	NM_000059.4(BRCA2):c.8972G>A (p.Arg2991His)	BRCA2 (R2991H)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GBenign/Likely benign
Select item 38222	NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala)	BRCA2 (V3081A)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 38232	NM_000059.4(BRCA2):c.9353T>C (p.Met3118Thr)	BRCA2 (M3118T)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 38234	NM_000059.4(BRCA2):c.9377A>G (p.Gln3126Arg)	BRCA2 (Q3126R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GUncertain significance
Select item 141038	NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu)	BRCA2 (V3145L)	Single nucleotide variant (missense variant)	BRCA2-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 620616	NM_000059.3(BRCA2):c.9503_9506delinsTAAG (p.Asn3168_Ile3169delinsIleSer)	BRCA2	Indel	Atypical teratoid rhabdoid tumor	GUncertain significance
Select item 38260	NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic FDA Recognized database

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Items: 56