ClinVar for PMC (Select 2667185) - ClinVar

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Links from PMC

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243100	NC_000017.10:g.(?_33427467)_(33428227_?)del	RAD51D	Deletion	Breast-ovarian cancer, familial, susceptibility to, 4	GLikely pathogenic
Select item 3243097	NC_000017.10:g.(?_33427972)_(33428394_?)del	RAD51D	Deletion	Breast-ovarian cancer, familial, susceptibility to, 4	GPathogenic
Select item 2848347	NM_002878.4(RAD51D):c.864dup (p.Gly289fs)	RAD51L3-RFFL, RAD51D (G289fs +2 more)	Duplication (non-coding transcript variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 4	GLikely pathogenic
Select item 2424556	NC_000017.10:g.(?_33427972)_(33428065_?)del	RAD51D	Deletion	Breast-ovarian cancer, familial, susceptibility to, 4	GLikely pathogenic
Select item 2424554	NC_000017.10:g.(?_33427972)_(33434476_?)del	RAD51D	Deletion	Breast-ovarian cancer, familial, susceptibility to, 4	GPathogenic
Select item 2087471	NM_002878.4(RAD51D):c.823_841dup (p.Ile281fs)	RAD51D, RAD51L3-RFFL (I281fs +2 more)	Duplication (non-coding transcript variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 4	GLikely pathogenic
Select item 1516502	NM_002878.4(RAD51D):c.896_*505del597 (p.Ser299_Ter329delinsXaa)	RAD51D, RAD51L3-RFFL	Deletion (stop lost +3 more)	Breast-ovarian cancer, familial, susceptibility to, 4	GLikely pathogenic
Select item 1506962	NM_002878.4(RAD51D):c.694_697dup (p.Glu233fs)	RAD51D, RAD51L3-RFFL (E121fs +2 more)	Duplication (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1498511	NM_002878.4(RAD51D):c.801del (p.Trp268fs)	RAD51D, RAD51L3-RFFL (W156fs +2 more)	Deletion (non-coding transcript variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 4 +1 more	GLikely pathogenic
Select item 1072694	NC_000017.10:g.(?_33427972)_(33430573_?)del	RAD51D	Deletion	Breast-ovarian cancer, familial, susceptibility to, 4	GPathogenic
Select item 1068166	NM_002878.4(RAD51D):c.886del (p.Ala296fs)	RAD51D, RAD51L3-RFFL (A184fs +2 more)	Deletion (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 664683	NM_002878.4(RAD51D):c.766del (p.Asp256fs)	RAD51D, RAD51L3-RFFL (D144fs +2 more)	Deletion (non-coding transcript variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 4	GLikely pathogenic
Select item 662966	NM_002878.4(RAD51D):c.854del (p.Gly285fs)	RAD51D, RAD51L3-RFFL (G285fs +2 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 4	GLikely pathogenic
Select item 655235	NC_000017.11:g.(?_35100943)_(35101046_?)del	RAD51D, RAD51L3-RFFL	Deletion	Breast-ovarian cancer, familial, susceptibility to, 4	GLikely pathogenic
Select item 642898	NM_002878.4(RAD51D):c.752del (p.Ile251fs)	RAD51D, RAD51L3-RFFL (I271fs +2 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 4 +1 more	GLikely pathogenic
Select item 492434	NM_002878.4(RAD51D):c.641dup (p.Leu215fs)	RAD51D, RAD51L3-RFFL (L235fs +2 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 4 +1 more	GLikely pathogenic
Select item 490149	NM_002878.4(RAD51D):c.946dup (p.Thr316fs)	RAD51D, RAD51L3-RFFL (T204fs +2 more)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 480540	NM_002878.4(RAD51D):c.623dup (p.Thr209fs)	RAD51D, RAD51L3-RFFL (T97fs +2 more)	Duplication (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 472632	NM_002878.4(RAD51D):c.955_959dup (p.Ala321fs)	RAD51L3-RFFL, RAD51D (A209fs +2 more)	Microsatellite (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 472631	NM_002878.4(RAD51D):c.904-2A>T	RAD51D, RAD51L3-RFFL	Single nucleotide variant (splice acceptor variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 472581	NC_000017.11:g.(?_35100947)_(35101042_?)del	RAD51D, RAD51L3-RFFL	Deletion	Breast-ovarian cancer, familial, susceptibility to, 4	GLikely pathogenic
Select item 421303	NM_002878.4(RAD51D):c.772_778del (p.Gly258fs)	RAD51D, RAD51L3-RFFL (G146fs +2 more)	Deletion (non-coding transcript variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 418921	NM_002878.4(RAD51D):c.774dup (p.Arg259fs)	RAD51D, RAD51L3-RFFL (R279fs +2 more)	Duplication (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 410561	NM_002878.4(RAD51D):c.901C>T (p.Gln301Ter)	RAD51L3-RFFL, RAD51D (Q301* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely pathogenic
Select item 410560	NM_002878.4(RAD51D):c.728dup (p.Met243fs)	RAD51D, RAD51L3-RFFL (M263fs +2 more)	Duplication (non-coding transcript variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 4	GLikely pathogenic
Select item 185528	NM_002878.4(RAD51D):c.898del (p.Arg300fs)	RAD51L3-RFFL, RAD51D (R320fs +1 more)	Deletion (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 185048	NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter)	RAD51D, RAD51L3-RFFL (R300* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic

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Items: 27