"Color Diagnostics, LLC DBA Color Health"[submitter] AND "C11orf65"[ge - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3021	NM_000051.4(ATM):c.5763-1050A>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +4 more	GPathogenic/Likely pathogenic
Select item 923794	NM_000051.4(ATM):c.5763-20_5763-18del	ATM, C11orf65	Deletion (intron variant)	Ataxia-telangiectasia syndrome +2 more	GLikely benign
Select item 418037	NM_000051.4(ATM):c.5763-17_5763-16del	C11orf65, ATM	Microsatellite (intron variant)	not specified +3 more	GLikely benign
Select item 490624	NM_000051.4(ATM):c.5763-19A>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +2 more	GLikely benign
Select item 1172380	NM_000051.4(ATM):c.5763-13C>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 386630	NM_000051.4(ATM):c.5763-13C>T	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast +3 more	GLikely benign
Select item 371188	NM_000051.4(ATM):c.5763-2A>T	ATM, C11orf65	Single nucleotide variant (splice acceptor variant +1 more)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 390476	NM_000051.4(ATM):c.5763A>G (p.Arg1921=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 141596	NM_000051.4(ATM):c.5764C>T (p.Pro1922Ser)	ATM, C11orf65 (P1922S)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +3 more	GUncertain significance
Select item 419402	NM_000051.4(ATM):c.5766TTC[1] (p.Ser1924del)	ATM, C11orf65 (S1924del)	Microsatellite (inframe_indel +1 more)	Ataxia-telangiectasia syndrome +3 more	GConflicting classifications of pathogenicity
Select item 233041	NM_000051.4(ATM):c.5765C>A (p.Pro1922His)	ATM, C11orf65 (P1922H)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 2174330	NM_000051.4(ATM):c.5772A>G (p.Ser1924=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 825958	NM_000051.4(ATM):c.5773G>A (p.Gly1925Arg)	ATM, C11orf65 (G1925R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 924050	NM_000051.4(ATM):c.5774G>C (p.Gly1925Ala)	ATM, C11orf65 (G1925A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 233040	NM_000051.4(ATM):c.5774G>A (p.Gly1925Glu)	ATM, C11orf65 (G1925E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 236743	NM_000051.4(ATM):c.5776A>G (p.Thr1926Ala)	C11orf65, ATM (T1926A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 187366	NM_000051.4(ATM):c.5776_5790del (p.Thr1926_Asp1930del)	ATM, C11orf65	Deletion (intron variant)	not provided +3 more	GUncertain significance
Select item 825969	NM_000051.4(ATM):c.5784T>C (p.Phe1928=)	C11orf65, ATM	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 485242	NM_000051.4(ATM):c.5784T>A (p.Phe1928Leu)	ATM, C11orf65 (F1928L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 923795	NM_000051.4(ATM):c.5786A>G (p.Asn1929Ser)	ATM, C11orf65 (N1929S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 926004	NM_000051.4(ATM):c.5789A>G (p.Asp1930Gly)	C11orf65, ATM (D1930G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 482669	NM_000051.4(ATM):c.5790T>C (p.Asp1930=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GBenign/Likely benign
Select item 127411	NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs)	ATM, C11orf65 (A1931fs)	Indel (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 128459	NM_000051.4(ATM):c.5793T>C (p.Ala1931=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 647164	NM_000051.4(ATM):c.5805_5815delinsATT (p.Asp1935fs)	ATM, C11orf65 (D1935fs)	Indel (frameshift variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GPathogenic
Select item 554050	NM_000051.4(ATM):c.5810A>G (p.Asn1937Ser)	ATM, C11orf65 (N1937S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 489564	NM_000051.4(ATM):c.5816T>A (p.Leu1939Gln)	ATM, C11orf65 (L1939Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 524433	NM_000051.4(ATM):c.5817A>G (p.Leu1939=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +2 more	GBenign/Likely benign
Select item 927306	NM_000051.4(ATM):c.5820A>C (p.Glu1940Asp)	ATM, C11orf65 (E1940D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 127412	NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)	ATM, C11orf65 (V1941L)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 233324	NM_000051.4(ATM):c.5822T>G (p.Val1941Gly)	C11orf65, ATM (V1941G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 181999	NM_000051.4(ATM):c.5825C>T (p.Ala1942Val)	ATM, C11orf65 (A1942V)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 853913	NM_000051.4(ATM):c.5827A>G (p.Lys1943Glu)	ATM, C11orf65 (K1943E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 524239	NM_000051.4(ATM):c.5828A>G (p.Lys1943Arg)	ATM, C11orf65 (K1943R)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 490625	NM_000051.4(ATM):c.5835T>G (p.Ala1945=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GBenign/Likely benign
Select item 482656	NM_000051.4(ATM):c.5840C>A (p.Ser1947Tyr)	ATM, C11orf65 (S1947Y)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 919959	NM_000051.4(ATM):c.5841T>C (p.Ser1947=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 826006	NM_000051.4(ATM):c.5848G>A (p.Ala1950Thr)	ATM, C11orf65 (A1950T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 629143	NM_000051.4(ATM):c.5852A>C (p.His1951Pro)	C11orf65, ATM (H1951P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 631098	NM_000051.4(ATM):c.5853C>T (p.His1951=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 490626	NM_000051.4(ATM):c.5853del (p.Phe1952fs)	ATM, C11orf65 (F1952fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 219891	NM_000051.4(ATM):c.5856T>C (p.Phe1952=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +2 more	GBenign/Likely benign
Select item 141721	NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile)	C11orf65, ATM (T1953I)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 490627	NM_000051.4(ATM):c.5859A>G (p.Thr1953=)	C11orf65, ATM	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome +1 more	GLikely benign
Select item 826015	NM_000051.4(ATM):c.5860G>C (p.Ala1954Pro)	ATM, C11orf65 (A1954P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 560759	NM_000051.4(ATM):c.5861C>G (p.Ala1954Gly)	ATM, C11orf65 (A1954G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 928017	NM_000051.4(ATM):c.5866C>G (p.Leu1956Val)	ATM, C11orf65 (L1956V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 628892	NM_000051.4(ATM):c.5866C>T (p.Leu1956Phe)	ATM, C11orf65 (L1956F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 231155	NM_000051.4(ATM):c.5867T>A (p.Leu1956His)	C11orf65, ATM (L1956H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 453600	NM_000051.4(ATM):c.5868C>T (p.Leu1956=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 1332282	NM_000051.4(ATM):c.5873C>T (p.Ala1958Val)	ATM, C11orf65 (A1958V)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 233603	NM_000051.4(ATM):c.5876A>G (p.Glu1959Gly)	ATM, C11orf65 (E1959G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 142498	NM_000051.4(ATM):c.5879T>A (p.Ile1960Asn)	ATM, C11orf65 (I1960N)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 127413	NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)	ATM, C11orf65 (Y1961C)	Single nucleotide variant (missense variant +1 more)	Breast carcinoma +5 more	GConflicting classifications of pathogenicity
Select item 481316	NM_000051.4(ATM):c.5889T>C (p.Asp1963=)	C11orf65, ATM	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +2 more	GBenign/Likely benign
Select item 182000	NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter)	ATM, C11orf65 (K1964*)	Single nucleotide variant (nonsense +1 more)	Ataxia-telangiectasia syndrome +3 more	GPathogenic/Likely pathogenic
Select item 142126	NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)	ATM, C11orf65 (K1964E)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +7 more	GConflicting classifications of pathogenicity
Select item 186146	NM_000051.4(ATM):c.5892G>C (p.Lys1964Asn)	C11orf65, ATM (K1964N)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 419910	NM_000051.4(ATM):c.5894_5900dup (p.Met1967fs)	ATM, C11orf65 (M1967fs)	Duplication (frameshift variant +1 more)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 577177	NM_000051.4(ATM):c.5895A>T (p.Lys1965Asn)	ATM, C11orf65 (K1965N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 490628	NM_000051.4(ATM):c.5897G>A (p.Ser1966Asn)	ATM, C11orf65 (S1966N)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 407470	NM_000051.4(ATM):c.5899A>G (p.Met1967Val)	ATM, C11orf65 (M1967V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 141404	NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)	ATM, C11orf65 (Q1970*)	Single nucleotide variant (nonsense +1 more)	Familial cancer of breast +4 more	GPathogenic
Select item 453602	NM_000051.4(ATM):c.5909A>G (p.Gln1970Arg)	ATM, C11orf65 (Q1970R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 142051	NM_000051.4(ATM):c.5910del (p.Glu1971fs)	ATM, C11orf65 (E1971fs)	Deletion (frameshift variant +1 more)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 924458	NM_000051.4(ATM):c.5917A>C (p.Arg1973=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 185328	NM_000051.4(ATM):c.5917A>G (p.Arg1973Gly)	ATM, C11orf65 (R1973G)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 481292	NM_000051.4(ATM):c.5918G>A (p.Arg1973Lys)	ATM, C11orf65 (R1973K)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 490629	NM_000051.4(ATM):c.5918+7G>A	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +2 more	GLikely benign
Select item 453604	NM_000051.4(ATM):c.5918+8A>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 924045	NM_000051.4(ATM):c.5918+12T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 377519	NM_000051.4(ATM):c.5918+16A>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +2 more	GLikely benign
Select item 490631	NM_000051.4(ATM):c.5919-18T>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 507721	NM_000051.4(ATM):c.5919-13T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 490630	NM_000051.4(ATM):c.5919-11G>A	C11orf65, ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +1 more	GLikely benign
Select item 629249	NM_000051.4(ATM):c.5919-10T>C	C11orf65, ATM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 490632	NM_000051.4(ATM):c.5919-8A>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +2 more	GLikely benign
Select item 921306	NM_000051.4(ATM):c.5919-1del	ATM, C11orf65	Deletion (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 925329	NM_000051.4(ATM):c.5925T>G (p.Leu1975=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +1 more	GBenign/Likely benign
Select item 925331	NM_000051.4(ATM):c.5926G>A (p.Ala1976Thr)	ATM, C11orf65 (A1976T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer +2 more	GConflicting classifications of pathogenicity
Select item 583331	NM_000051.4(ATM):c.5931del (p.Phe1977fs)	C11orf65, ATM (F1977fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 490633	NM_000051.4(ATM):c.5930T>C (p.Phe1977Ser)	C11orf65, ATM (F1977S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 127414	NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)	ATM, C11orf65 (E1978*)	Single nucleotide variant (nonsense +1 more)	Ataxia-telangiectasia syndrome +5 more	GPathogenic
Select item 187479	NM_000051.4(ATM):c.5938G>A (p.Gly1980Arg)	ATM, C11orf65 (G1980R)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance
Select item 141800	NM_000051.4(ATM):c.5945A>G (p.Gln1982Arg)	ATM, C11orf65 (Q1982R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 407560	NM_000051.4(ATM):c.5950A>T (p.Thr1984Ser)	C11orf65, ATM (T1984S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2774691	NM_000051.4(ATM):c.5951C>T (p.Thr1984Ile)	ATM, C11orf65 (T1984I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 826077	NM_000051.4(ATM):c.5951C>A (p.Thr1984Lys)	ATM, C11orf65 (T1984K)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 524452	NM_000051.4(ATM):c.5955T>C (p.Thr1985=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GBenign/Likely benign
Select item 234219	NM_000051.4(ATM):c.5956A>G (p.Ile1986Val)	ATM, C11orf65 (I1986V)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 490634	NM_000051.4(ATM):c.5961T>C (p.Ser1987=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome +4 more	GBenign/Likely benign
Select item 414532	NM_000051.4(ATM):c.5961T>G (p.Ser1987=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 414619	NM_000051.4(ATM):c.5964C>T (p.Ser1988=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GBenign/Likely benign
Select item 490635	NM_000051.4(ATM):c.5967G>A (p.Leu1989=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GBenign/Likely benign
Select item 453606	NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter)	C11orf65, ATM (E1991*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 187013	NM_000051.4(ATM):c.5971G>A (p.Glu1991Lys)	ATM, C11orf65 (E1991K)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +4 more	GUncertain significance
Select item 921643	NM_000051.4(ATM):c.5973A>G (p.Glu1991=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 142164	NM_000051.4(ATM):c.5973A>C (p.Glu1991Asp)	ATM, C11orf65 (E1991D)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 482672	NM_000051.4(ATM):c.5975A>G (p.Lys1992Arg)	ATM, C11orf65 (K1992R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 233016	NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs)	ATM, C11orf65 (S1993fs)	Deletion (frameshift variant +1 more)	Familial cancer of breast +2 more	GPathogenic

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