C0346153[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 333498	NM_001372051.1(CASP8):c.339C>T (p.Ser113=)	CASP8	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GBenign/Likely benign
Select item 894881	NM_000465.4(BARD1):c.*38C>T	BARD1	Single nucleotide variant (3 prime UTR variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 127735	NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)	BARD1 (S761N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 184291	NM_000465.4(BARD1):c.2280G>A (p.Ser760=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 142117	NM_000465.4(BARD1):c.2252G>A (p.Arg751Gln)	BARD1 (R751Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 136501	NM_000465.4(BARD1):c.2212A>G (p.Ile738Val)	BARD1 (I738V +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GBenign/Likely benign
Select item 127732	NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly)	BARD1 (R731G +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 229888	NM_000465.4(BARD1):c.2189A>C (p.Gln730Pro)	BARD1 (Q730P +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 186324	NM_000465.4(BARD1):c.2082C>T (p.Leu694=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	BARD1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 127727	NM_000465.4(BARD1):c.1977A>G (p.Arg659=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 136500	NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys)	BARD1 (R658C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 142135	NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg)	BARD1 (C645R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 140927	NM_000465.4(BARD1):c.1915T>C (p.Cys639Arg)	BARD1 (C639R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 127723	NM_000465.4(BARD1):c.1793C>A (p.Thr598Asn)	BARD1 (T598N +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GUncertain significance
Select item 136499	NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys)	BARD1 (E580K +3 more)	Single nucleotide variant (missense variant +2 more)	Breast and/or ovarian cancer +5 more	GBenign
Select item 127721	NM_000465.4(BARD1):c.1694G>A (p.Arg565His)	BARD1 (R565H +3 more)	Single nucleotide variant (missense variant +2 more)	BARD1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 8045	NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser)	BARD1 (C557S +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 140771	NM_000465.4(BARD1):c.1568+15G>T	BARD1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 256214	NM_000465.4(BARD1):c.1568+14C>T	BARD1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 127716	NM_000465.4(BARD1):c.1568T>C (p.Val523Ala)	BARD1 (V523A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 140757	NM_000465.4(BARD1):c.1519G>A (p.Val507Met)	BARD1 (V507M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 183704	NM_000465.4(BARD1):c.1518T>C (p.His506=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 184095	NM_000465.4(BARD1):c.1473G>A (p.Gly491=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	BARD1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 141608	NM_000465.4(BARD1):c.1448A>G (p.His483Arg)	BARD1 (H483R +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 334194	NM_000465.4(BARD1):c.1403C>G (p.Ala468Gly)	BARD1 (A468G +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +2 more	GUncertain significance
Select item 186719	NM_000465.4(BARD1):c.1159T>C (p.Phe387Leu)	BARD1 (F387L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GUncertain significance
Select item 184858	NM_000465.4(BARD1):c.1152C>T (p.Ser384=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 460690	NM_000465.4(BARD1):c.1147A>T (p.Met383Leu)	BARD1 (M383L +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 142769	NM_000465.4(BARD1):c.1134G>C (p.Arg378Ser)	BARD1 (R378S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GBenign
Select item 142025	NM_000465.4(BARD1):c.1053G>C (p.Thr351=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast +4 more	GBenign
Select item 279698	NM_000465.4(BARD1):c.928T>G (p.Ser310Ala)	BARD1 (S310A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 899082	NM_000465.4(BARD1):c.903G>A (p.Glu301=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast	GConflicting classifications of pathogenicity
Select item 185922	NM_000465.4(BARD1):c.842C>T (p.Pro281Leu)	BARD1 (P281L +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 182026	NM_000465.4(BARD1):c.783A>G (p.Leu261=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 183870	NM_000465.4(BARD1):c.735A>G (p.Gln245=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 136497	NM_000465.4(BARD1):c.722C>G (p.Ser241Cys)	BARD1 (S241C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 142225	NM_000465.4(BARD1):c.659T>C (p.Leu220Ser)	BARD1 (L220S +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 136496	NM_000465.4(BARD1):c.609A>C (p.Gly203=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GBenign
Select item 141134	NM_000465.4(BARD1):c.587A>G (p.Lys196Arg)	BARD1 (K196R +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +2 more	GUncertain significance
Select item 182038	NM_000465.4(BARD1):c.465A>G (p.Arg155=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 237836	NM_000465.4(BARD1):c.382C>T (p.Pro128Ser)	BARD1 (P128S +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 142156	NM_000465.4(BARD1):c.346C>T (p.His116Tyr)	BARD1 (H116Y +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 183769	NM_000465.4(BARD1):c.279A>G (p.Gln93=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	BARD1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 334195	NM_000465.4(BARD1):c.245G>T (p.Gly82Val)	BARD1 (G82V +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 334197	NM_000465.4(BARD1):c.216-14T>C	BARD1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GConflicting classifications of pathogenicity
Select item 334198	NM_000465.4(BARD1):c.215+13G>A	BARD1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 896388	NM_000465.4(BARD1):c.123C>A (p.Leu41=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GConflicting classifications of pathogenicity
Select item 648248	NM_000465.4(BARD1):c.98C>T (p.Ala33Val)	BARD1 (A33V)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 237846	NM_000465.4(BARD1):c.93C>G (p.Arg31=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 182030	NM_000465.4(BARD1):c.90T>A (p.Gly30=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	BARD1-related condition +5 more	GBenign/Likely benign
Select item 183698	NM_000465.4(BARD1):c.70C>T (p.Pro24Ser)	BARD1 (P24S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 233594	NM_000465.4(BARD1):c.55G>T (p.Glu19Ter)	BARD1 (E19*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 460751	NM_000465.4(BARD1):c.45C>A (p.Arg15=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 127737	NM_000465.4(BARD1):c.33G>T (p.Gln11His)	BARD1 (Q11H)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 898018	NM_000465.4(BARD1):c.-26G>A	BARD1, LOC129935544	Single nucleotide variant (5 prime UTR variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 334199	NM_000465.4(BARD1):c.-30G>C	BARD1, LOC129935544	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GBenign
Select item 334200	NM_000465.4(BARD1):c.-48T>C	BARD1, LOC129935544	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GBenign
Select item 334201	NM_000465.4(BARD1):c.-78G>A	BARD1, LOC129935544	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 334202	NM_000465.4(BARD1):c.-83C>T	BARD1, LOC129935544	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GBenign/Likely benign
Select item 334203	NM_000465.4(BARD1):c.-114A>G	BARD1, LOC129935544	Single nucleotide variant (5 prime UTR variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 379486	NM_001184.4(ATR):c.992A>G (p.Asp331Gly)	ATR (D331G)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 127009	NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)	NBN (L421S +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +6 more	GConflicting classifications of pathogenicity
Select item 13936	NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)	RET (Y791F +17 more)	Single nucleotide variant (missense variant)	not specified +9 more	GBenign/Likely benign
Select item 142397	NM_000314.8(PTEN):c.210-7_210-3del	PTEN	Microsatellite (intron variant)	PTEN hamartoma tumor syndrome	GBenign FDA Recognized database
Select item 186855	NM_000051.4(ATM):c.127C>G (p.Leu43Val)	ATM (L43V)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 3048	NM_000051.4(ATM):c.146C>G (p.Ser49Cys)	ATM (S49C)	Single nucleotide variant (missense variant)	Familial cancer of breast	GBenign FDA Recognized database
Select item 132757	NM_000051.4(ATM):c.162T>C (p.Tyr54=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 135737	NM_000051.4(ATM):c.186-7C>T	ATM	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +6 more	GBenign/Likely benign
Select item 133625	NM_000051.4(ATM):c.275A>C (p.Lys92Thr)	ATM (K92T)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 127364	NM_000051.4(ATM):c.295A>G (p.Ser99Gly)	ATM (S99G)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 127373	NM_000051.4(ATM):c.370A>G (p.Ile124Val)	ATM (I124V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 128455	NM_000051.4(ATM):c.378T>A (p.Asp126Glu)	ATM (D126E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 141546	NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)	ATM	Deletion (frameshift variant)	Familial cancer of breast +4 more	GPathogenic/Likely pathogenic
Select item 132685	NM_000051.4(ATM):c.544G>C (p.Val182Leu)	ATM (V182L)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +5 more	GBenign/Likely benign
Select item 135764	NM_000051.4(ATM):c.609C>T (p.Asp203=)	ATM	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 127419	NM_000051.4(ATM):c.610G>A (p.Gly204Arg)	ATM (G204R)	Single nucleotide variant (missense variant)	ATM-related condition +6 more	GConflicting classifications of pathogenicity
Select item 128460	NM_000051.4(ATM):c.657T>C (p.Cys219=)	ATM	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +6 more	GBenign
Select item 133640	NM_000051.4(ATM):c.659C>T (p.Ala220Val)	ATM (A220V)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 142096	NM_000051.4(ATM):c.692A>G (p.His231Arg)	ATM (H231R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 183707	NM_000051.4(ATM):c.735C>T (p.Val245=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome +5 more	GBenign/Likely benign
Select item 188359	NM_000051.4(ATM):c.902G>A (p.Gly301Asp)	ATM (G301D)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 127471	NM_000051.4(ATM):c.998C>T (p.Ser333Phe)	ATM (S333F)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +6 more	GConflicting classifications of pathogenicity
Select item 3038	NM_000051.4(ATM):c.1066-6T>G	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast	GBenign FDA Recognized database
Select item 142140	NM_000051.4(ATM):c.1176C>G (p.Gly392=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GBenign FDA Recognized database
Select item 132714	NM_000051.4(ATM):c.1254A>G (p.Gln418=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast +6 more	GBenign/Likely benign
Select item 141474	NM_000051.4(ATM):c.1355del (p.Thr452fs)	ATM (T452fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 133602	NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)	ATM (G514D)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +6 more	GBenign/Likely benign
Select item 133604	NM_000051.4(ATM):c.1636C>G (p.Leu546Val)	ATM (L546V)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +6 more	GBenign/Likely benign
Select item 140916	NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)	ATM (R568I)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 127342	NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)	ATM (F582L)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 181989	NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys)	ATM (Y583C)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +3 more	GConflicting classifications of pathogenicity
Select item 127343	NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)	ATM (P604S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +7 more	GConflicting classifications of pathogenicity
Select item 135740	NM_000051.4(ATM):c.1986T>C (p.Phe662=)	ATM	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 128454	NM_000051.4(ATM):c.2119T>C (p.Ser707Pro)	ATM (S707P)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 140879	NM_000051.4(ATM):c.2149C>T (p.Arg717Trp)	ATM (R717W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 141238	NM_000051.4(ATM):c.2189G>A (p.Cys730Tyr)	ATM (C730Y)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 140761	NM_000051.4(ATM):c.2193C>T (p.Tyr731=)	ATM	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +6 more	GBenign/Likely benign
Select item 184290	NM_000051.4(ATM):c.2220A>G (p.Ala740=)	ATM	Single nucleotide variant (synonymous variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 127346	NM_000051.4(ATM):c.2275A>G (p.Ser759Gly)	ATM (S759G)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +5 more	GUncertain significance
Select item 127347	NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)	ATM (F763L)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +5 more	GConflicting classifications of pathogenicity

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