C3150659[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 548876	NM_058216.3(RAD51C):c.4C>G (p.Arg2Gly)	RAD51C (R2G)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 128203	NM_058216.3(RAD51C):c.14C>T (p.Thr5Met)	RAD51C (T5M)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 372089	NM_058216.3(RAD51C):c.77A>T (p.Lys26Met)	RAD51C (K26M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 182847	NM_058216.3(RAD51C):c.93del (p.Phe32fs)	RAD51C (F32fs)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +5 more	GPathogenic
Select item 140913	NM_058216.3(RAD51C):c.90G>A (p.Ala30=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group O +5 more	GBenign
Select item 142534	NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter)	RAD51C (Q33*)	Single nucleotide variant (nonsense +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GPathogenic
Select item 185535	NM_058216.3(RAD51C):c.115C>G (p.Leu39Val)	RAD51C (L39V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 140940	NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly)	RAD51C (E45G)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +6 more	GConflicting classifications of pathogenicity
Select item 185138	NM_058216.3(RAD51C):c.141C>T (p.Ser47=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 372087	NM_058216.3(RAD51C):c.145+2T>G	LOC130061310, RAD51C	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group O +2 more	GPathogenic/Likely pathogenic
Select item 138870	NM_058216.3(RAD51C):c.145+12T>G	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 3 +4 more	GConflicting classifications of pathogenicity
Select item 548888	NM_058216.3(RAD51C):c.146-15T>C	RAD51C	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 3 +1 more	GLikely benign
Select item 136156	NM_058216.3(RAD51C):c.146-8A>G	RAD51C	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +6 more	GConflicting classifications of pathogenicity
Select item 138869	NM_058216.3(RAD51C):c.186A>G (p.Gln62=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +5 more	GBenign/Likely benign
Select item 136157	NM_058216.3(RAD51C):c.195A>G (p.Arg65=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia +7 more	GBenign/Likely benign
Select item 182844	NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter)	RAD51C (Y75*)	Duplication (nonsense +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GPathogenic
Select item 182833	NM_058216.3(RAD51C):c.234A>G (p.Thr78=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +4 more	GConflicting classifications of pathogenicity
Select item 548726	NM_058216.3(RAD51C):c.271C>T (p.Leu91Phe)	RAD51C (L91F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 409852	NM_058216.3(RAD51C):c.317C>T (p.Ala106Val)	RAD51C (A106V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 183850	NM_058216.3(RAD51C):c.336G>A (p.Gly112=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer +5 more	GBenign/Likely benign
Select item 132721	NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr)	RAD51C (A126T)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +5 more	GBenign/Likely benign
Select item 142086	NM_058216.3(RAD51C):c.379C>A (p.Pro127Thr)	RAD51C (P127T)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +2 more	GUncertain significance
Select item 31556	NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter)	RAD51C (Q133*)	Single nucleotide variant (nonsense +1 more)	Breast and/or ovarian cancer +5 more	GPathogenic
Select item 141823	NM_058216.3(RAD51C):c.405-1G>C	RAD51C	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 3 +3 more	GPathogenic/Likely pathogenic
Select item 6825	NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe)	RAD51C (L138F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 128205	NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg)	RAD51C (Q143R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 142840	NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr)	RAD51C (I144T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group O +5 more	GConflicting classifications of pathogenicity
Select item 183772	NM_058216.3(RAD51C):c.459T>G (p.Gly153=)	RAD51C	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 188317	NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu)	RAD51C (F164L)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 3 +4 more	GConflicting classifications of pathogenicity
Select item 471443	NM_058216.3(RAD51C):c.497T>C (p.Val166Ala)	RAD51C (V166A)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 128206	NM_058216.3(RAD51C):c.506T>C (p.Val169Ala)	RAD51C (V169A)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 219853	NM_058216.3(RAD51C):c.520A>G (p.Thr174Ala)	RAD51C (T174A)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 3 +3 more	GUncertain significance
Select item 141532	NM_058216.3(RAD51C):c.537C>A (p.His179Gln)	RAD51C (H179Q)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 3 +3 more	GUncertain significance
Select item 128207	NM_058216.3(RAD51C):c.571+4A>G	RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O +6 more	GConflicting classifications of pathogenicity
Select item 372093	NM_058216.3(RAD51C):c.571+16A>G	RAD51C	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 140849	NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)	RAD51C (R193*)	Single nucleotide variant (nonsense +1 more)	RAD51C-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 187633	NM_058216.3(RAD51C):c.635G>A (p.Arg212His)	LOC129390903, RAD51C (R212H)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +5 more	GConflicting classifications of pathogenicity
Select item 141324	NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys)	LOC129390903, RAD51C (R214C)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +6 more	GConflicting classifications of pathogenicity
Select item 142154	NM_058216.3(RAD51C):c.706-18T>C	RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O +5 more	GBenign/Likely benign
Select item 379592	NM_058216.3(RAD51C):c.706-13C>G	RAD51C	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 128209	NM_058216.3(RAD51C):c.706-2A>G	RAD51C	Single nucleotide variant (splice acceptor variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 186364	NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)	RAD51C (R237*)	Single nucleotide variant (nonsense +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GPathogenic
Select item 241777	NM_058216.3(RAD51C):c.719T>C (p.Ile240Thr)	RAD51C (I240T)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GUncertain significance
Select item 231486	NM_058216.3(RAD51C):c.724G>A (p.Asp242Asn)	RAD51C (D242N)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +3 more	GConflicting classifications of pathogenicity
Select item 409860	NM_058216.3(RAD51C):c.732del (p.Ile244fs)	RAD51C (I244fs)	Deletion (frameshift variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 182828	NM_058216.3(RAD51C):c.746G>A (p.Arg249His)	RAD51C (R249H)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +4 more	GConflicting classifications of pathogenicity
Select item 215959	NM_058216.3(RAD51C):c.756A>G (p.Leu252=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group O +3 more	GLikely benign
Select item 142453	NM_058216.3(RAD51C):c.772C>T (p.Arg258Cys)	RAD51C (R258C)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +4 more	GUncertain significance
Select item 419188	NM_058216.3(RAD51C):c.774del (p.Thr259fs)	RAD51C (T259fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 128210	NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)	RAD51C (L262V)	Single nucleotide variant (missense variant +1 more)	RAD51C-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 128211	NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)	RAD51C (G264S)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 241779	NM_058216.3(RAD51C):c.837+1G>T	RAD51C	Single nucleotide variant (splice donor variant)	Hereditary breast ovarian cancer syndrome +4 more	GPathogenic/Likely pathogenic
Select item 372094	NM_058216.3(RAD51C):c.837+14A>G	RAD51C	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 132702	NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)	RAD51C (T287A)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +7 more	GBenign/Likely benign
Select item 141205	NM_058216.3(RAD51C):c.862A>G (p.Thr288Ala)	RAD51C (T288A)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +3 more	GConflicting classifications of pathogenicity
Select item 186828	NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro)	RAD51C (L297P)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 392195	NM_058216.3(RAD51C):c.905-7C>T	RAD51C	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 141768	NM_058216.3(RAD51C):c.905-2_905-1del	RAD51C	Deletion (splice acceptor variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 232614	NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter)	RAD51C (W305*)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 186543	NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser)	RAD51C (A308S)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +5 more	GConflicting classifications of pathogenicity
Select item 128201	NM_058216.3(RAD51C):c.1026+5_1026+7del	RAD51C	Deletion (intron variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 128202	NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp)	RAD51C (R368W)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +5 more	GConflicting classifications of pathogenicity
Select item 187061	NM_058216.3(RAD51C):c.1109G>A (p.Arg370Gln)	RAD51C (R370Q)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +5 more	GUncertain significance

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Items: 63