"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1299766	NM_000051.4(ATM):c.-30-44T>C	ATM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 489580	NM_000051.4(ATM):c.67C>G (p.Arg23Gly)	ATM (R23G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1178525	NM_000051.4(ATM):c.72+37_72+38del	ATM	Deletion (intron variant)	Hereditary breast ovarian cancer syndrome +2 more	GBenign
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 489518	NM_000051.4(ATM):c.186-17A>G	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast +6 more	GBenign
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 230851	NM_000051.4(ATM):c.331+5G>A	ATM	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome +3 more	GPathogenic/Likely pathogenic
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 184009	NM_000051.4(ATM):c.507T>C (p.Ser169=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 181910	NM_000051.4(ATM):c.538C>T (p.Gln180Ter)	ATM (Q180*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome +3 more	GPathogenic
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 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 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 229794	NM_000051.4(ATM):c.875C>T (p.Pro292Leu)	ATM (P292L)	Single nucleotide variant (missense variant)	Familial cancer of breast	GLikely pathogenic FDA Recognized database
Select item 1234389	NM_000051.4(ATM):c.901+25T>G	ATM	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 127328	NM_000051.4(ATM):c.1010G>A (p.Arg337His)	ATM (R337H)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1299969	NM_000051.4(ATM):c.1120del (p.Gln374fs)	ATM (Q374fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic
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 135732	NM_000051.4(ATM):c.1272T>C (p.Pro424=)	ATM	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 140889	NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)	ATM (K468fs)	Deletion (frameshift variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 142433	NM_000051.4(ATM):c.1464G>T (p.Trp488Cys)	ATM (W488C)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
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 236675	NM_000051.4(ATM):c.1634C>T (p.Ala545Val)	ATM (A545V)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
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 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 136435	NM_000051.4(ATM):c.1773T>C (p.Asn591=)	ATM	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 1270784	NM_000051.4(ATM):c.1802+65T>C	ATM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 371548	NM_000051.4(ATM):c.1803-2A>G	ATM	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GLikely pathogenic
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 141939	NM_000051.4(ATM):c.1898+2T>G	ATM	Single nucleotide variant (splice donor variant)	Ataxia-telangiectasia syndrome +3 more	GPathogenic/Likely pathogenic
Select item 453393	NM_000051.4(ATM):c.1899-55T>G	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +3 more	GBenign
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 141183	NM_000051.4(ATM):c.2021A>G (p.His674Arg)	ATM (H674R)	Single nucleotide variant (missense variant)	not provided +6 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 1275851	NM_000051.4(ATM):c.2124+21A>G	ATM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197347	NM_000051.4(ATM):c.2125-68T>C	ATM	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 181924	NM_000051.4(ATM):c.2159G>A (p.Arg720His)	ATM (R720H)	Single nucleotide variant (missense variant)	not provided +6 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 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
Select item 1275840	NM_000051.4(ATM):c.2376+44T>G	ATM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1177614	NM_000051.4(ATM):c.2377-56A>G	ATM	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GBenign
Select item 133607	NM_000051.4(ATM):c.2442C>A (p.Asp814Glu)	ATM (D814E)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign
Select item 230715	NM_000051.4(ATM):c.2466A>G (p.Leu822=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 236691	NM_000051.4(ATM):c.2467-7C>T	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 132736	NM_000051.4(ATM):c.2572T>C (p.Phe858Leu)	ATM (F858L)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +6 more	GBenign/Likely benign
Select item 135745	NM_000051.4(ATM):c.2610C>T (p.Asn870=)	ATM	Single nucleotide variant (synonymous variant)	ATM-related condition +4 more	GBenign/Likely benign
Select item 133610	NM_000051.4(ATM):c.2614C>T (p.Pro872Ser)	ATM (P872S)	Single nucleotide variant (missense variant)	Familial cancer of breast	GBenign FDA Recognized database
Select item 127356	NM_000051.4(ATM):c.2630G>C (p.Ser877Thr)	ATM (S877T)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 140763	NM_000051.4(ATM):c.2639-17G>T	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast	GBenign FDA Recognized database
Select item 140770	NM_000051.4(ATM):c.2685A>G (p.Leu895=)	ATM	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +6 more	GBenign
Select item 654958	NM_000051.4(ATM):c.2700G>A (p.Met900Ile)	ATM (M900I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 246496	NM_000051.4(ATM):c.2723T>C (p.Val908Ala)	ATM (V908A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 127358	NM_000051.4(ATM):c.2770C>T (p.Arg924Trp)	ATM (R924W)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +4 more	GUncertain significance
Select item 127362	NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)	ATM (S978P)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 478940	NM_000051.4(ATM):c.2991A>G (p.Val997=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 439418	NM_000051.4(ATM):c.3078-77C>T	ATM	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 3027	NM_000051.4(ATM):c.3118A>G (p.Met1040Val)	ATM (M1040V)	Single nucleotide variant (missense variant)	Familial cancer of breast	GBenign FDA Recognized database
Select item 1275852	NM_000051.4(ATM):c.3153+49C>T	ATM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 181857	NM_000051.4(ATM):c.3285-9del	ATM	Deletion (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 233576	NM_000051.4(ATM):c.3371A>T (p.Tyr1124Phe)	ATM (Y1124F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 133615	NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg)	ATM (Q1128R)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 1253530	NM_000051.4(ATM):c.3403-34T>A	ATM	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 3035	NM_000051.4(ATM):c.3576G>A (p.Lys1192=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome +4 more	GPathogenic/Likely pathogenic
Select item 223462	NM_000051.4(ATM):c.3747-34A>G	ATM	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GBenign/Likely benign
Select item 185981	NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg)	ATM (K1269R)	Single nucleotide variant (missense variant)	ATM-related condition +5 more	GConflicting classifications of pathogenicity
Select item 127377	NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)	ATM (A1309T)	Single nucleotide variant (missense variant)	Familial cancer of breast	GBenign FDA Recognized database
Select item 670294	NM_000051.4(ATM):c.3993+40G>A	ATM	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1275834	NM_000051.4(ATM):c.3993+48A>G	ATM	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 567769	NM_000051.4(ATM):c.4028T>C (p.Ile1343Thr)	ATM (I1343T)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 127379	NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)	ATM (P1354T)	Single nucleotide variant (missense variant)	ATM-related condition +5 more	GConflicting classifications of pathogenicity
Select item 133619	NM_000051.4(ATM):c.4138C>T (p.His1380Tyr)	ATM (H1380Y)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +6 more	GBenign
Select item 127382	NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)	ATM (S1383L)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 128456	NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe)	ATM (L1420F)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 127390	NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)	ATM (L1472V)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 127391	NM_000051.4(ATM):c.4420C>G (p.His1474Asp)	ATM (H1474D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 407548	NM_000051.4(ATM):c.4465C>T (p.Arg1489Cys)	ATM (R1489C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 135754	NM_000051.4(ATM):c.4473C>T (p.Phe1491=)	ATM	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 128457	NM_000051.4(ATM):c.4578C>T (p.Pro1526=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 245791	NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys)	ATM (Y1544C)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +4 more	GUncertain significance
Select item 140851	NM_000051.4(ATM):c.4666T>C (p.Tyr1556His)	ATM (Y1556H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 127394	NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)	ATM (V1570A)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +6 more	GConflicting classifications of pathogenicity
Select item 181960	NM_000051.4(ATM):c.4724G>A (p.Arg1575His)	ATM (R1575H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 142141	NM_000051.4(ATM):c.4777-20A>G	ATM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 265513	NM_000051.4(ATM):c.4879C>T (p.Gln1627Ter)	ATM (Q1627*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 382833	NM_000051.4(ATM):c.4910-16A>T	ATM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 127395	NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser)	ATM (N1650S)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +5 more	GBenign/Likely benign
Select item 135758	NM_000051.4(ATM):c.4980C>T (p.Asn1660=)	ATM	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +5 more	GBenign/Likely benign
Select item 127399	NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)	ATM (S1691R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1275843	NM_000051.4(ATM):c.5177+68A>G	ATM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 127401	NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)	ATM (V1729L)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 453577	NM_000051.4(ATM):c.5418A>G (p.Ile1806Met)	ATM (I1806M)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 136446	NM_000051.4(ATM):c.5497-15G>C	ATM	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 132706	NM_000051.4(ATM):c.5497-8T>C	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +5 more	GBenign/Likely benign
Select item 189177	NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)	ATM (Q1839*)	Single nucleotide variant (nonsense)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 128458	NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn)	ATM (D1853N)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign

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