ClinVar for MedGen (Select 439) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25792581.	GRCh38/hg38 11q22.3(chr11:108358364-108376364)x0 GRCh38: Chr11:108358364-108376364	ATM, C11orf65		Ataxia-telangiectasia syndrome	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25779092.	NM_000051.4(ATM):c.7559T>C (p.Met2520Thr) GRCh37: Chr11:108202214 GRCh38: Chr11:108331487	ATM, C11orf65	M2520T	Ataxia-telangiectasia syndrome	Uncertain significance (Jul 21, 2023)	criteria provided, single submitter
Select item 25715913.	NM_000051.4(ATM):c.9010A>T (p.Lys3004Ter) GRCh37: Chr11:108236074 GRCh38: Chr11:108365347	ATM, C11orf65	K3004*	Ataxia-telangiectasia syndrome	Pathogenic (Jul 8, 2023)	criteria provided, single submitter
Select item 25070204.	NM_000051.4(ATM):c.2639-1G>A GRCh37: Chr11:108139136 GRCh38: Chr11:108268409	ATM		Ataxia-telangiectasia syndrome	Likely pathogenic	no assertion criteria provided
Select item 25070185.	NM_000051.4(ATM):c.8907T>G (p.Tyr2969Ter) GRCh37: Chr11:108235865 GRCh38: Chr11:108365138	ATM, C11orf65	Y2969*	Ataxia-telangiectasia syndrome	Likely pathogenic	no assertion criteria provided
Select item 25070176.	NM_000051.4(ATM):c.4864G>T (p.Glu1622Ter) GRCh37: Chr11:108165741 GRCh38: Chr11:108295014	ATM	E1622*	Ataxia-telangiectasia syndrome	Pathogenic	no assertion criteria provided
Select item 25061727.	NM_000051.4(ATM):c.8733del (p.Arg2912fs) GRCh37: Chr11:108224553 GRCh38: Chr11:108353826	ATM, C11orf65	R2912fs	Ataxia-telangiectasia syndrome	Pathogenic (May 11, 2023)	criteria provided, single submitter
Select item 25055328.	NM_000051.4(ATM):c.1617dup (p.Cys540fs) GRCh37: Chr11:108122572-108122573 GRCh38: Chr11:108251845-108251846	ATM	C540fs	Familial cancer of breast, Ataxia-telangiectasia syndrome	Likely pathogenic (Jan 1, 2023)	criteria provided, single submitter
Select item 25039629.	NM_000051.4(ATM):c.829del (p.Glu277fs) GRCh37: Chr11:108115681 GRCh38: Chr11:108244954	ATM	E277fs	Ataxia-telangiectasia syndrome	Likely pathogenic (Apr 1, 2023)	criteria provided, single submitter
Select item 250393810.	NM_000051.4(ATM):c.4410T>A (p.Tyr1470Ter) GRCh37: Chr11:108160502 GRCh38: Chr11:108289775	ATM	Y1470*	Ataxia-telangiectasia syndrome	Likely pathogenic (Apr 4, 2023)	criteria provided, single submitter
Select item 243931511.	NM_000051.4(ATM):c.259C>G (p.Gln87Glu) GRCh37: Chr11:108099978 GRCh38: Chr11:108229251	ATM	Q87E	Ataxia-telangiectasia syndrome	Uncertain significance (Dec 13, 2022)	criteria provided, single submitter
Select item 243565712.	NM_000051.4(ATM):c.6751del (p.Leu2251fs) GRCh37: Chr11:108196215 GRCh38: Chr11:108325488	ATM, C11orf65	L2251fs	Ataxia-telangiectasia syndrome	Likely pathogenic (Jun 8, 2022)	criteria provided, single submitter
Select item 243507413.	NM_000051.4(ATM):c.6560delinsGG (p.Glu2187fs) GRCh37: Chr11:108192135 GRCh38: Chr11:108321408	ATM, C11orf65	E2187fs	Ataxia-telangiectasia syndrome	Pathogenic (Feb 17, 2023)	criteria provided, single submitter
Select item 242223714.	NC_000011.9:g.(?_108235789)_(108236235_?)dup GRCh37: Chr11:108235789-108236235	ATM		Ataxia-telangiectasia syndrome	Uncertain significance (Nov 2, 2022)	criteria provided, single submitter
Select item 242223615.	NC_000011.9:g.(?_108106377)_(108236235_?)dup GRCh37: Chr11:108106377-108236235	ATM		Ataxia-telangiectasia syndrome	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 242223516.	NC_000011.9:g.(?_108098352)_(108236235_?)dup GRCh37: Chr11:108098352-108236235	ATM		Ataxia-telangiectasia syndrome	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 242223417.	NC_000011.9:g.(?_108224473)_(108332286_?)del GRCh37: Chr11:108224473-108332286	ATM, C11orf65		Ataxia-telangiectasia syndrome	Pathogenic (Oct 23, 2022)	criteria provided, single submitter
Select item 242223318.	NC_000011.9:g.(?_108163336)_(108170622_?)del GRCh37: Chr11:108163336-108170622	ATM		Ataxia-telangiectasia syndrome	Likely pathogenic (Jul 6, 2021)	criteria provided, single submitter
Select item 242223219.	NC_000011.9:g.(?_108098352)_(108098615_?)del GRCh37: Chr11:108098352-108098615	ATM		Ataxia-telangiectasia syndrome	Pathogenic (Feb 21, 2022)	criteria provided, single submitter
Select item 242223120.	NC_000011.9:g.(?_108115586)_(108118919_?)del GRCh37: Chr11:108115586-108118919	ATM		Ataxia-telangiectasia syndrome	Likely pathogenic (Apr 15, 2022)	criteria provided, single submitter
Select item 242223021.	NC_000011.9:g.(?_108114117)_(108115618_?)del GRCh37: Chr11:108114117-108115618	ATM		Ataxia-telangiectasia syndrome	Likely pathogenic (Feb 28, 2022)	criteria provided, single submitter
Select item 242222922.	NC_000011.9:g.(?_108170929)_(108196046_?)del GRCh37: Chr11:108170929-108196046	ATM		Ataxia-telangiectasia syndrome	Uncertain significance (Nov 5, 2021)	criteria provided, single submitter
Select item 242222823.	NC_000011.9:g.(?_108156908)_(108160358_?)del GRCh37: Chr11:108156908-108160358	ATM		Ataxia-telangiectasia syndrome	Pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 242222624.	NC_000011.9:g.(?_108114670)_(108236235_?)dup GRCh37: Chr11:108114670-108236235	ATM		Ataxia-telangiectasia syndrome	Uncertain significance (Sep 11, 2022)	criteria provided, single submitter
Select item 242222525.	NC_000011.9:g.(?_108106387)_(108119839_?)dup GRCh37: Chr11:108106387-108119839	ATM		Ataxia-telangiectasia syndrome	Likely pathogenic (Oct 12, 2022)	criteria provided, single submitter
Select item 242222426.	NC_000011.9:g.(?_108183089)_(108225611_?)dup GRCh37: Chr11:108183089-108225611	ATM		Ataxia-telangiectasia syndrome	Likely pathogenic (Oct 23, 2021)	criteria provided, single submitter
Select item 242222327.	NC_000011.9:g.(?_108099895)_(108119839_?)dup GRCh37: Chr11:108099895-108119839	ATM		Ataxia-telangiectasia syndrome	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 242222228.	NC_000011.9:g.(?_108190671)_(108190795_?)dup GRCh37: Chr11:108190671-108190795	ATM		Ataxia-telangiectasia syndrome	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 242222129.	NC_000011.9:g.(?_108114662)_(108115763_?)del GRCh37: Chr11:108114662-108115763	ATM		Ataxia-telangiectasia syndrome	Pathogenic (Oct 28, 2021)	criteria provided, single submitter
Select item 242222030.	NC_000011.9:g.(?_108114660)_(108181062_?)del GRCh37: Chr11:108114660-108181062	ATM		Ataxia-telangiectasia syndrome	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 242221931.	NC_000011.9:g.(?_108186540)_(108196962_?)del GRCh37: Chr11:108186540-108196962	ATM		Ataxia-telangiectasia syndrome	Pathogenic (Oct 11, 2022)	criteria provided, single submitter
Select item 242221832.	NC_000011.9:g.(?_108099885)_(108225621_?)del GRCh37: Chr11:108099885-108225621	ATM		Ataxia-telangiectasia syndrome	Pathogenic (Dec 27, 2021)	criteria provided, single submitter
Select item 242221733.	NC_000011.9:g.(?_108159694)_(108160538_?)del GRCh37: Chr11:108159694-108160538	ATM		Ataxia-telangiectasia syndrome	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 242221634.	NC_000011.9:g.(?_108153427)_(108236235_?)del GRCh37: Chr11:108153427-108236235	ATM		Ataxia-telangiectasia syndrome	Pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 242221535.	NC_000011.9:g.(?_108098352)_(108129822_?)del GRCh37: Chr11:108098352-108129822	ATM		Ataxia-telangiectasia syndrome	Pathogenic (Feb 11, 2022)	criteria provided, single submitter
Select item 242221436.	NC_000011.9:g.(?_108137888)_(108155210_?)del GRCh37: Chr11:108137888-108155210	ATM		Ataxia-telangiectasia syndrome	Pathogenic (Nov 26, 2021)	criteria provided, single submitter
Select item 242221337.	NC_000011.9:g.(?_108093770)_(108164214_?)del GRCh37: Chr11:108093770-108164214	ATM		Ataxia-telangiectasia syndrome	Pathogenic (Mar 26, 2021)	criteria provided, single submitter
Select item 242221238.	NC_000011.9:g.(?_108093770)_(108098625_?)del GRCh37: Chr11:108093770-108098625	ATM		Ataxia-telangiectasia syndrome	Pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 242166439.	NM_000051.4(ATM):c.3994-14T>A GRCh37: Chr11:108158313 GRCh38: Chr11:108287586	ATM		Ataxia-telangiectasia syndrome	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 242115340.	NM_000051.4(ATM):c.2838+17G>T GRCh37: Chr11:108139353 GRCh38: Chr11:108268626	ATM		Ataxia-telangiectasia syndrome	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 242111441.	NM_000051.4(ATM):c.8851-18T>C GRCh37: Chr11:108235791 GRCh38: Chr11:108365064	ATM, C11orf65		Ataxia-telangiectasia syndrome	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 242048342.	NM_000051.4(ATM):c.6573-13T>A GRCh37: Chr11:108196024 GRCh38: Chr11:108325297	ATM, C11orf65		Ataxia-telangiectasia syndrome	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 241999443.	NM_000051.4(ATM):c.8052G>C (p.Gln2684His) GRCh37: Chr11:108205737 GRCh38: Chr11:108335010	ATM, C11orf65	Q2684H	Ataxia-telangiectasia syndrome	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 241898244.	NM_000051.4(ATM):c.4909G>C (p.Asp1637His) GRCh37: Chr11:108165786 GRCh38: Chr11:108295059	ATM	D1637H	Ataxia-telangiectasia syndrome	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 241898145.	NM_000051.4(ATM):c.1572G>A (p.Trp524Ter) GRCh37: Chr11:108121764 GRCh38: Chr11:108251037	ATM	W524*	Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome	Pathogenic (Apr 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 241898046.	NM_000051.4(ATM):c.775C>T (p.Leu259Phe) GRCh37: Chr11:108115627 GRCh38: Chr11:108244900	ATM	L259F	Ataxia-telangiectasia syndrome	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 241884747.	NM_000051.4(ATM):c.4927A>T (p.Ile1643Phe) GRCh37: Chr11:108168031 GRCh38: Chr11:108297304	ATM	I1643F	Ataxia-telangiectasia syndrome	Uncertain significance (Jan 20, 2022)	criteria provided, single submitter
Select item 241870648.	NM_000051.4(ATM):c.684T>G (p.Gly228=) GRCh37: Chr11:108115536 GRCh38: Chr11:108244809	ATM		Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome	Likely benign (Nov 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 241745249.	NM_000051.4(ATM):c.3198del (p.Asp1067fs) GRCh37: Chr11:108143490 GRCh38: Chr11:108272763	ATM	D1067fs	Ataxia-telangiectasia syndrome	Pathogenic (Jun 29, 2022)	criteria provided, single submitter
Select item 241745150.	NM_000051.4(ATM):c.4741_4742delinsG (p.Ile1581fs) GRCh37: Chr11:108164169-108164170 GRCh38: Chr11:108293442-108293443	ATM	I1581fs	Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome	Pathogenic (Jan 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 241648451.	NM_000051.4(ATM):c.5006-4G>T GRCh37: Chr11:108170437 GRCh38: Chr11:108299710	ATM		Ataxia-telangiectasia syndrome	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 241620052.	NM_000051.4(ATM):c.6349A>G (p.Lys2117Glu) GRCh37: Chr11:108190682 GRCh38: Chr11:108319955	ATM, C11orf65	K2117E	Ataxia-telangiectasia syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 241519353.	NM_000051.4(ATM):c.7789-15_7789-9del GRCh37: Chr11:108203466-108203472 GRCh38: Chr11:108332739-108332745	ATM, C11orf65		Ataxia-telangiectasia syndrome	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 220167654.	NM_000051.4(ATM):c.6229C>T (p.Leu2077Phe) GRCh37: Chr11:108188130 GRCh38: Chr11:108317403	ATM, C11orf65	L2077F	Ataxia-telangiectasia syndrome	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 220166055.	NM_000051.4(ATM):c.7307+19G>T GRCh37: Chr11:108199984 GRCh38: Chr11:108329257	ATM, C11orf65		Ataxia-telangiectasia syndrome	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 220105956.	NM_000051.4(ATM):c.8585-14T>G GRCh37: Chr11:108217992 GRCh38: Chr11:108347265	ATM, C11orf65		Ataxia-telangiectasia syndrome	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 219999957.	NM_000051.4(ATM):c.3324G>A (p.Leu1108=) GRCh37: Chr11:108150257 GRCh38: Chr11:108279530	ATM		Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome	Likely benign (Nov 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219968258.	NM_000051.4(ATM):c.3747-16A>T GRCh37: Chr11:108154938 GRCh38: Chr11:108284211	ATM		Ataxia-telangiectasia syndrome	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 219967659.	NM_000051.4(ATM):c.72+19T>C GRCh37: Chr11:108098442 GRCh38: Chr11:108227715	ATM		Ataxia-telangiectasia syndrome	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 219962360.	NM_000051.4(ATM):c.5496+19C>T GRCh37: Chr11:108173775 GRCh38: Chr11:108303048	ATM		Ataxia-telangiectasia syndrome	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 219919361.	NM_000051.4(ATM):c.73-14C>T GRCh37: Chr11:108098489 GRCh38: Chr11:108227762	ATM		Ataxia-telangiectasia syndrome	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 219907962.	NM_000051.4(ATM):c.8987+12T>C GRCh37: Chr11:108235957 GRCh38: Chr11:108365230	ATM, C11orf65		Ataxia-telangiectasia syndrome	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 219901663.	NM_000051.4(ATM):c.2838+12T>C GRCh37: Chr11:108139348 GRCh38: Chr11:108268621	ATM		Ataxia-telangiectasia syndrome	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 219615364.	NM_000051.4(ATM):c.3445A>G (p.Asn1149Asp) GRCh37: Chr11:108151764 GRCh38: Chr11:108281037	ATM	N1149D	Ataxia-telangiectasia syndrome	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 219581465.	NM_000051.4(ATM):c.3101A>G (p.Tyr1034Cys) GRCh37: Chr11:108143282 GRCh38: Chr11:108272555	ATM	Y1034C	Ataxia-telangiectasia syndrome	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 219555266.	NM_000051.4(ATM):c.297T>G (p.Ser99Arg) GRCh37: Chr11:108100016 GRCh38: Chr11:108229289	ATM	S99R	Ataxia-telangiectasia syndrome	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 219453067.	NM_000051.4(ATM):c.2467-13C>G GRCh37: Chr11:108137885 GRCh38: Chr11:108267158	ATM		Ataxia-telangiectasia syndrome	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 219440468.	NM_000051.4(ATM):c.8672-20C>A GRCh37: Chr11:108224473 GRCh38: Chr11:108353746	ATM, C11orf65		Ataxia-telangiectasia syndrome	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 219320969.	NM_000051.4(ATM):c.8671+1G>A GRCh37: Chr11:108218093 GRCh38: Chr11:108347366	ATM, C11orf65		Ataxia-telangiectasia syndrome	Likely pathogenic (May 7, 2022)	criteria provided, single submitter
Select item 219170070.	NM_000051.4(ATM):c.3718A>T (p.Asn1240Tyr) GRCh37: Chr11:108153578 GRCh38: Chr11:108282851	ATM	N1240Y	Ataxia-telangiectasia syndrome	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 219122971.	NM_000051.4(ATM):c.4909+14A>G GRCh37: Chr11:108165800 GRCh38: Chr11:108295073	ATM		Ataxia-telangiectasia syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 219009172.	NM_000051.4(ATM):c.6817A>G (p.Arg2273Gly) GRCh37: Chr11:108196794 GRCh38: Chr11:108326067	ATM, C11orf65	R2273G	Ataxia-telangiectasia syndrome	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 219002173.	NM_000051.4(ATM):c.7789-16T>C GRCh37: Chr11:108203473 GRCh38: Chr11:108332746	ATM, C11orf65		Ataxia-telangiectasia syndrome	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 218995474.	NM_000051.4(ATM):c.8151+13T>G GRCh37: Chr11:108205849 GRCh38: Chr11:108335122	ATM, C11orf65		Ataxia-telangiectasia syndrome	Likely benign (Nov 4, 2022)	criteria provided, single submitter
Select item 218772875.	NM_000051.4(ATM):c.4340G>A (p.Ser1447Asn) GRCh37: Chr11:108160432 GRCh38: Chr11:108289705	ATM	S1447N	Ataxia-telangiectasia syndrome	Uncertain significance (Jan 20, 2022)	criteria provided, single submitter
Select item 218673076.	NM_000051.4(ATM):c.8787-11_8787-8dup GRCh37: Chr11:108225524-108225525 GRCh38: Chr11:108354797-108354798	ATM, C11orf65		Ataxia-telangiectasia syndrome	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 218646377.	NM_000051.4(ATM):c.5910A>G (p.Gln1970=) GRCh37: Chr11:108181034 GRCh38: Chr11:108310307	ATM, C11orf65		Ataxia-telangiectasia syndrome	Likely benign (Jun 6, 2022)	criteria provided, single submitter
Select item 218090378.	NM_000051.4(ATM):c.248C>T (p.Ser83Leu) GRCh37: Chr11:108099967 GRCh38: Chr11:108229240	ATM	S83L	Ataxia-telangiectasia syndrome	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 218008979.	NM_000051.4(ATM):c.1065+13G>C GRCh37: Chr11:108117867 GRCh38: Chr11:108247140	ATM		Ataxia-telangiectasia syndrome	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 217630580.	NM_000051.4(ATM):c.1666A>G (p.Lys556Glu) GRCh37: Chr11:108122622 GRCh38: Chr11:108251895	ATM	K556E	Ataxia-telangiectasia syndrome	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 217546081.	NM_000051.4(ATM):c.4422C>G (p.His1474Gln) GRCh37: Chr11:108160514 GRCh38: Chr11:108289787	ATM	H1474Q	Ataxia-telangiectasia syndrome	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 217533182.	NM_000051.4(ATM):c.3131del (p.Asn1044fs) GRCh37: Chr11:108143310 GRCh38: Chr11:108272583	ATM	N1044fs	Ataxia-telangiectasia syndrome	Pathogenic (Aug 20, 2022)	criteria provided, single submitter
Select item 217477383.	NM_000051.4(ATM):c.1470T>G (p.Ile490Met) GRCh37: Chr11:108121662 GRCh38: Chr11:108250935	ATM	I490M	Ataxia-telangiectasia syndrome	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 217433084.	NM_000051.4(ATM):c.5772A>G (p.Ser1924=) GRCh37: Chr11:108180896 GRCh38: Chr11:108310169	C11orf65, ATM		Ataxia-telangiectasia syndrome	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 217212485.	NM_000051.4(ATM):c.821C>A (p.Ser274Tyr) GRCh37: Chr11:108115673 GRCh38: Chr11:108244946	ATM	S274Y	Ataxia-telangiectasia syndrome	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 217192186.	NM_000051.4(ATM):c.3284+8G>A GRCh37: Chr11:108143587 GRCh38: Chr11:108272860	ATM		Ataxia-telangiectasia syndrome	Likely benign (Feb 13, 2022)	criteria provided, single submitter
Select item 216977687.	NM_000051.4(ATM):c.6321G>C (p.Met2107Ile) GRCh37: Chr11:108188222 GRCh38: Chr11:108317495	ATM, C11orf65	M2107I	Ataxia-telangiectasia syndrome	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 216966088.	NM_000051.4(ATM):c.3402+16A>T GRCh37: Chr11:108150351 GRCh38: Chr11:108279624	ATM		Ataxia-telangiectasia syndrome	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 216956389.	NM_000051.4(ATM):c.6136del (p.Ala2045_Leu2046insTer) GRCh37: Chr11:108186776 GRCh38: Chr11:108316049	C11orf65, ATM		Ataxia-telangiectasia syndrome	Pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 216956190.	NM_000051.4(ATM):c.2484G>A (p.Lys828=) GRCh37: Chr11:108137915 GRCh38: Chr11:108267188	ATM		Ataxia-telangiectasia syndrome	Likely benign (Jul 10, 2022)	criteria provided, single submitter
Select item 216914191.	NM_000051.4(ATM):c.6198+11del GRCh37: Chr11:108186846 GRCh38: Chr11:108316119	ATM, C11orf65		Ataxia-telangiectasia syndrome	Benign (Sep 3, 2022)	criteria provided, single submitter
Select item 216750892.	NM_000051.4(ATM):c.7307+15A>G GRCh37: Chr11:108199980 GRCh38: Chr11:108329253	ATM, C11orf65		Ataxia-telangiectasia syndrome	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 216665193.	NM_000051.4(ATM):c.3929A>G (p.Gln1310Arg) GRCh37: Chr11:108155136 GRCh38: Chr11:108284409	ATM	Q1310R	Ataxia-telangiectasia syndrome	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 216597094.	NM_000051.4(ATM):c.2638+19C>G GRCh37: Chr11:108138088 GRCh38: Chr11:108267361	ATM		Ataxia-telangiectasia syndrome	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 216551295.	NM_000051.4(ATM):c.2838+16T>C GRCh37: Chr11:108139352 GRCh38: Chr11:108268625	ATM		Ataxia-telangiectasia syndrome	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 216520196.	NM_000051.4(ATM):c.5319+3_5319+5del GRCh37: Chr11:108172519-108172521 GRCh38: Chr11:108301792-108301794	ATM		Ataxia-telangiectasia syndrome	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 216506097.	NM_000051.4(ATM):c.790T>C (p.Tyr264His) GRCh37: Chr11:108115642 GRCh38: Chr11:108244915	ATM	Y264H	Ataxia-telangiectasia syndrome	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 216497198.	NM_000051.4(ATM):c.8011-13A>T GRCh37: Chr11:108205683 GRCh38: Chr11:108334956	ATM, C11orf65		Ataxia-telangiectasia syndrome	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 216470199.	NM_000051.4(ATM):c.2251-13C>T GRCh37: Chr11:108128195 GRCh38: Chr11:108257468	ATM		Ataxia-telangiectasia syndrome	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 2164169100.	NM_000051.4(ATM):c.8584+20_8584+36del GRCh37: Chr11:108216654-108216670 GRCh38: Chr11:108345927-108345943	ATM, C11orf65		Ataxia-telangiectasia syndrome	Likely benign (Oct 12, 2022)	criteria provided, single submitter

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