C11orf65[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 417409	NC_000011.10:g.(?_108222832)_(108369099_?)del	ATM, C11orf65 +8 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 649639	NC_000011.9:g.(?_108098342)_(108236245_?)dup	ATM, C11orf65 +4 more	Duplication	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 584290	NC_000011.10:g.(?_108227615)_(108365518_?)del	ATM, C11orf65 +4 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 524487	NC_000011.9:g.(?_108098346)_(108236241_?)dup	ATM, C11orf65 +4 more	Duplication	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 658449	NC_000011.9:g.(?_108114670)_(108225611_?)dup	ATM, C11orf65 +2 more	Duplication	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 583669	NC_000011.10:g.(?_108243943)_(108365518_?)del	ATM, C11orf65 +2 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 583876	NC_000011.9:g.(?_108114674)_(108225607_?)dup	ATM, C11orf65 +2 more	Duplication	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 417408	NC_000011.10:g.(?_108243953)_(108369099_?)del	ATM, C11orf65 +2 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 524489	NC_000011.9:g.(?_108115509)_(108236241_?)dup	ATM, C11orf65 +2 more	Duplication	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 584204	NC_000011.9:g.(?_108126936)_(108236241_?)dup	C11orf65, LOC128772356 +2 more	Duplication	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 559940	NG_009830.1:g.(41245_49339)_(137044_147250)dup	ATM, C11orf65 +2 more	Duplication	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244464	NC_000011.10:g.(?_108267161)_(108354884_?)del	ATM, C11orf65 +2 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 660702	NC_000011.9:g.(?_108137888)_(108236245_?)dup	ATM, C11orf65 +2 more	Duplication	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 649625	NC_000011.10:g.(?_108267161)_(108365518_?)del	ATM, C11orf65 +2 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 583716	NC_000011.9:g.(?_108137888)_(108225611_?)dup	ATM, C11orf65 +2 more	Duplication	Ataxia-telangiectasia syndrome	GPathogenic
Select item 583789	NC_000011.10:g.(?_108267165)_(108365514_?)del	ATM, C11orf65 +2 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 254071	NM_000051.3(ATM):c.2467-?_8850+?dup6384	ATM, C11orf65 +2 more	Duplication	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 666226	NC_000011.10:g.(?_108280985)_(108365518_?)del	ATM, C11orf65 +1 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 219910	NM_000051.3(ATM):c.3403-?_*(1_?)del	ATM, C11orf65 +1 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 417410	NC_000011.10:g.(?_108297287)_(108335961_?)del	ATM, C11orf65	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 665350	NM_000051.4(ATM):c.5129_5763-1060del	C11orf65, ATM	Deletion (splice acceptor variant +1 more)	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 662294	NC_000011.9:g.(?_108172365)_(108236245_?)dup	ATM, C11orf65 +1 more	Duplication	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 1193598	NM_000051.4(ATM):c.5762+1025T>C	ATM, C11orf65 (T235A)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2695650	NM_000051.4(ATM):c.5763-1080A>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2708626	NM_000051.4(ATM):c.5763-1056G>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 1696413	NM_000051.4(ATM):c.5763-1056G>A	ATM, C11orf65	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3048663	NM_000051.4(ATM):c.5763-1055G>C	ATM, C11orf65	Single nucleotide variant (intron variant)	ATM-related disorder	GLikely benign
Select item 2828582	NM_000051.4(ATM):c.5763-1048_5763-1036del	ATM, C11orf65	Deletion (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3021	NM_000051.4(ATM):c.5763-1050A>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast +4 more	GPathogenic/Likely pathogenic
Select item 3037003	NM_000051.4(ATM):c.5763-1046A>G	ATM, C11orf65	Single nucleotide variant (intron variant)	ATM-related disorder	GLikely benign
Select item 223464	NM_000051.4(ATM):c.5763-302A>G	C11orf65, ATM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
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 3254508	NM_000051.4(ATM):c.5763-20T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3013135	NM_000051.4(ATM):c.5763-20T>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 418037	NM_000051.4(ATM):c.5763-17_5763-16del	ATM, C11orf65	Microsatellite (intron variant)	not specified +3 more	GLikely benign
Select item 2587785	NM_000051.4(ATM):c.5763-18_5772del	ATM, C11orf65	Deletion (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 490624	NM_000051.4(ATM):c.5763-19A>G	C11orf65, ATM	Single nucleotide variant (intron variant)	Familial cancer of breast +2 more	GLikely benign
Select item 420797	NM_000051.4(ATM):c.5763-14_5763-13del	ATM, C11orf65	Microsatellite (intron variant)	Ataxia-telangiectasia syndrome +1 more	GLikely benign
Select item 2129488	NM_000051.4(ATM):c.5763-15C>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 1172380	NM_000051.4(ATM):c.5763-13C>G	C11orf65, ATM	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)	not specified +3 more	GLikely benign
Select item 389284	NM_000051.4(ATM):c.5763-12A>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast +2 more	GLikely benign
Select item 3254300	NM_000051.4(ATM):c.5763-7del	ATM, C11orf65	Deletion (intron variant)	Familial cancer of breast	GLikely benign
Select item 379635	NM_000051.4(ATM):c.5763-11T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast +2 more	GLikely benign
Select item 3254509	NM_000051.4(ATM):c.5763-8T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 1129518	NM_000051.4(ATM):c.5763-8T>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2759048	NM_000051.4(ATM):c.5763-7T>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 524463	NM_000051.4(ATM):c.5763-7T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 3254119	NM_000051.4(ATM):c.5763-6C>T	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 1692802	NM_000051.4(ATM):c.5763-5T>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 482728	NM_000051.4(ATM):c.5763-5T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1749497	NM_000051.4(ATM):c.5763-3T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 481234	NM_000051.4(ATM):c.5763-2A>G	ATM, C11orf65	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 371188	NM_000051.4(ATM):c.5763-2A>T	ATM, C11orf65	Single nucleotide variant (splice acceptor variant +1 more)	Ataxia-telangiectasia syndrome +3 more	GPathogenic/Likely pathogenic
Select item 232005	NM_000051.4(ATM):c.5763-2A>C	ATM, C11orf65	Single nucleotide variant (splice acceptor variant +1 more)	Familial cancer of breast +2 more	GPathogenic
Select item 3340762	NM_000051.4(ATM):c.5763-1G>T	ATM, C11orf65	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 2780229	NM_000051.4(ATM):c.5763-1G>C	ATM, C11orf65	Single nucleotide variant (splice acceptor variant +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 1472071	NM_000051.4(ATM):c.5763-1G>A	ATM, C11orf65	Single nucleotide variant (splice acceptor variant +1 more)	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 390476	NM_000051.4(ATM):c.5763A>G (p.Arg1921=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1472532	NM_000051.4(ATM):c.5764C>A (p.Pro1922Thr)	ATM, C11orf65 (P1922T)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 186262	NM_000051.4(ATM):c.5765del (p.Pro1922fs)	ATM, C11orf65 (P1922fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 141596	NM_000051.4(ATM):c.5764C>T (p.Pro1922Ser)	ATM, C11orf65 (P1922S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 419402	NM_000051.4(ATM):c.5766TTC[1] (p.Ser1924del)	ATM, C11orf65 (S1924del)	Microsatellite (inframe_indel +2 more)	Hereditary cancer-predisposing 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)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1749510	NM_000051.4(ATM):c.5766T>G (p.Pro1922=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 1545633	NM_000051.4(ATM):c.5766T>C (p.Pro1922=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3148260	NM_000051.4(ATM):c.5770del (p.Ser1924fs)	ATM, C11orf65 (S1924fs)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GPathogenic
Select item 414554	NM_000051.4(ATM):c.5769T>C (p.Ser1923=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +3 more	GBenign/Likely benign
Select item 429078	NM_000051.4(ATM):c.5771C>A (p.Ser1924Ter)	ATM, C11orf65 (S1924*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 230900	NM_000051.4(ATM):c.5771C>T (p.Ser1924Leu)	C11orf65, ATM (S1924L)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 2174330	NM_000051.4(ATM):c.5772A>G (p.Ser1924=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GBenign/Likely benign
Select item 1749565	NM_000051.4(ATM):c.5773G>T (p.Gly1925Ter)	ATM, C11orf65 (G1925*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 825958	NM_000051.4(ATM):c.5773G>A (p.Gly1925Arg)	ATM, C11orf65 (G1925R)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia 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 825959	NM_000051.4(ATM):c.5774G>T (p.Gly1925Val)	ATM, C11orf65 (G1925V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 233040	NM_000051.4(ATM):c.5774G>A (p.Gly1925Glu)	ATM, C11orf65 (G1925E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1749572	NM_000051.4(ATM):c.5775A>G (p.Gly1925=)	C11orf65, ATM	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 236743	NM_000051.4(ATM):c.5776A>G (p.Thr1926Ala)	ATM, C11orf65 (T1926A)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 187366	NM_000051.4(ATM):c.5776_5790del (p.Thr1926_Asp1930del)	C11orf65, ATM	Deletion (inframe_deletion +1 more)	not provided +3 more	GUncertain significance
Select item 3148535	NM_000051.4(ATM):c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (p.Thr1926delinsArgSerSerLeuAspLeuTer)	ATM, C11orf65	Indel (nonsense +1 more)	Familial cancer of breast	GPathogenic
Select item 834829	NM_000051.4(ATM):c.5777C>A (p.Thr1926Lys)	ATM, C11orf65 (T1926K)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 234231	NM_000051.4(ATM):c.5777C>T (p.Thr1926Ile)	ATM, C11orf65 (T1926I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 999207	NM_000051.4(ATM):c.5779A>G (p.Ile1927Val)	ATM, C11orf65 (I1927V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 429203	NM_000051.4(ATM):c.5784dup (p.Asn1929Ter)	ATM, C11orf65 (N1929*)	Duplication (frameshift variant +2 more)	Familial cancer of breast +1 more	GPathogenic
Select item 1397278	NM_000051.4(ATM):c.5783T>G (p.Phe1928Cys)	ATM, C11orf65 (F1928C)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 825969	NM_000051.4(ATM):c.5784T>C (p.Phe1928=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +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)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 959668	NM_000051.4(ATM):c.5786A>T (p.Asn1929Ile)	ATM, C11orf65 (N1929I)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia 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 378990	NM_000051.4(ATM):c.5787T>C (p.Asn1929=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +2 more	GBenign/Likely benign
Select item 1960507	NM_000051.4(ATM):c.5789A>T (p.Asp1930Val)	ATM, C11orf65 (D1930V)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia 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 1749666	NM_000051.4(ATM):c.5790T>G (p.Asp1930Glu)	ATM, C11orf65 (D1930E)	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)	Familial cancer of breast +2 more	GBenign/Likely benign
Select item 1061765	NM_000051.4(ATM):c.5791G>A (p.Ala1931Thr)	ATM, C11orf65 (A1931T)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 429082	NM_000051.4(ATM):c.5791_5793delinsCCTC (p.Ala1931fs)	ATM, C11orf65 (A1931fs)	Indel (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 127411	NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs)	ATM, C11orf65 (A1931fs)	Indel (frameshift variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 571209	NM_000051.4(ATM):c.5792C>T (p.Ala1931Val)	C11orf65, ATM (A1931V)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance

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