"Baylor Genetics"[submitter] AND "ATM"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 224517	NM_000051.4(ATM):c.-30-1G>T	ATM	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 187213	NM_000051.4(ATM):c.1A>C (p.Met1Leu)	ATM (M1L)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GPathogenic/Likely pathogenic
Select item 640846	NM_000051.4(ATM):c.4A>G (p.Ser2Gly)	ATM (S2G)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 489566	NM_000051.4(ATM):c.5G>A (p.Ser2Asn)	ATM (S2N)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 246026	NM_000051.4(ATM):c.8del (p.Leu3fs)	ATM (L3fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 234089	NM_000051.4(ATM):c.15dup (p.Asn6Ter)	ATM (N6*)	Duplication (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2679751	NM_000051.4(ATM):c.15del (p.Asn6fs)	ATM (N6fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic/Likely pathogenic
Select item 1014478	NM_000051.4(ATM):c.19G>C (p.Asp7His)	ATM (D7H)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 185977	NM_000051.4(ATM):c.37C>T (p.Arg13Cys)	ATM (R13C)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +4 more	GUncertain significance
Select item 188171	NM_000051.4(ATM):c.38G>A (p.Arg13His)	ATM (R13H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 232822	NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer)	ATM	Deletion (nonsense)	not provided +3 more	GPathogenic
Select item 921708	NM_000051.4(ATM):c.50A>G (p.His17Arg)	ATM (H17R)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 232248	NM_000051.4(ATM):c.67C>T (p.Arg23Ter)	ATM (R23*)	Single nucleotide variant (nonsense)	Familial cancer of breast +3 more	GPathogenic
Select item 127429	NM_000051.4(ATM):c.68G>A (p.Arg23Gln)	ATM (R23Q)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GUncertain significance
Select item 628283	NM_000051.4(ATM):c.75_78del	ATM	Microsatellite (splice acceptor variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 481354	NM_000051.4(ATM):c.73-1G>A	ATM	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 181944	NM_000051.4(ATM):c.76G>C (p.Glu26Gln)	ATM (E26Q)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 186439	NM_000051.4(ATM):c.78A>T (p.Glu26Asp)	ATM (E26D)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 185887	NM_000051.4(ATM):c.79G>A (p.Val27Ile)	ATM (V27I)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1072474	NM_000051.4(ATM):c.90del (p.Phe30fs)	ATM (F30fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 216237	NM_000051.4(ATM):c.93G>C (p.Lys31Asn)	ATM (K31N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 524321	NM_000051.4(ATM):c.95G>T (p.Arg32Leu)	ATM (R32L)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 181945	NM_000051.4(ATM):c.95G>A (p.Arg32His)	ATM (R32H)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 3025	NM_000051.4(ATM):c.103C>T (p.Arg35Ter)	ATM (R35*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2679754	NM_000051.4(ATM):c.106_113del (p.Asp36fs)	ATM (D36fs)	Deletion (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 231729	NM_000051.4(ATM):c.104G>A (p.Arg35Gln)	ATM (R35Q)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +3 more	GUncertain significance
Select item 184988	NM_000051.4(ATM):c.115A>G (p.Thr39Ala)	ATM (T39A)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 2679748	NM_000051.4(ATM):c.121A>T (p.Lys41Ter)	ATM (K41*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GLikely pathogenic
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 186471	NM_000051.4(ATM):c.131A>G (p.Asp44Gly)	ATM (D44G)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 140832	NM_000051.4(ATM):c.133C>T (p.Arg45Trp)	ATM (R45W)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 188157	NM_000051.4(ATM):c.134G>A (p.Arg45Gln)	ATM (R45Q)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 578183	NM_000051.4(ATM):c.149A>G (p.Lys50Arg)	ATM (K50R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 181946	NM_000051.4(ATM):c.154G>T (p.Gly52Ter)	ATM (G52*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 231299	NM_000051.4(ATM):c.157A>C (p.Lys53Gln)	ATM (K53Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 575605	NM_000051.4(ATM):c.164T>G (p.Leu55Trp)	ATM (L55W)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 127341	NM_000051.4(ATM):c.170G>A (p.Trp57Ter)	ATM (W57*)	Single nucleotide variant (nonsense)	Familial cancer of breast +4 more	GPathogenic
Select item 1351284	NM_000051.4(ATM):c.172G>A (p.Asp58Asn)	ATM (D58N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 233566	NM_000051.4(ATM):c.175G>T (p.Ala59Ser)	ATM (A59S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1075036	NM_000051.4(ATM):c.183del (p.Phe61fs)	ATM (F61fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome +1 more	GPathogenic/Likely pathogenic
Select item 220177	NM_000051.4(ATM):c.185+1G>A	ATM	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 481091	NM_000051.4(ATM):c.186-1G>A	ATM	Single nucleotide variant (splice acceptor variant)	Familial cancer of breast +2 more	GLikely pathogenic
Select item 236681	NM_000051.4(ATM):c.192del (p.Leu64fs)	ATM (L64fs)	Deletion (frameshift variant)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 485178	NM_000051.4(ATM):c.193C>G (p.Gln65Glu)	ATM (Q65E)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 265585	NM_000051.4(ATM):c.193C>T (p.Gln65Ter)	ATM (Q65*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome +3 more	GPathogenic/Likely pathogenic
Select item 820455	NM_000051.4(ATM):c.198A>T (p.Lys66Asn)	ATM (K66N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2679685	NM_000051.4(ATM):c.201_206del (p.Tyr67_Gln69delinsTer)	ATM	Deletion (nonsense)	Familial cancer of breast	GLikely pathogenic
Select item 231354	NM_000051.4(ATM):c.200A>G (p.Tyr67Cys)	ATM (Y67C)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 127344	NM_000051.4(ATM):c.202A>G (p.Ile68Val)	ATM (I68V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 569567	NM_000051.4(ATM):c.217_218del (p.Glu73fs)	ATM (E73fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 220412	NM_000051.4(ATM):c.221G>A (p.Cys74Tyr)	ATM (C74Y)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 422835	NM_000051.4(ATM):c.229A>G (p.Ile77Val)	ATM (I77V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 181874	NM_000051.4(ATM):c.237del (p.Lys79fs)	ATM (K79fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 232904	NM_000051.4(ATM):c.238C>T (p.Pro80Ser)	ATM (P80S)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +3 more	GUncertain significance
Select item 187119	NM_000051.4(ATM):c.241A>G (p.Asn81Asp)	ATM (N81D)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 821399	NM_000051.4(ATM):c.250G>T (p.Ala84Ser)	ATM (A84S)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 3240765	NM_000051.4(ATM):c.259C>T (p.Gln87Ter)	ATM (Q87*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 821756	NM_000051.4(ATM):c.274A>G (p.Lys92Glu)	ATM (K92E)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 133625	NM_000051.4(ATM):c.275A>C (p.Lys92Thr)	ATM (K92T)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 221134	NM_000051.4(ATM):c.280A>G (p.Met94Val)	ATM (M94V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 141167	NM_000051.4(ATM):c.283C>T (p.Gln95Ter)	ATM (Q95*)	Single nucleotide variant (nonsense)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 236694	NM_000051.4(ATM):c.289del (p.Ile97fs)	ATM (I97fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome +2 more	GPathogenic/Likely pathogenic
Select item 186520	NM_000051.4(ATM):c.290T>C (p.Ile97Thr)	ATM (I97T)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GUncertain significance
Select item 127364	NM_000051.4(ATM):c.295A>G (p.Ser99Gly)	ATM (S99G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 582130	NM_000051.4(ATM):c.299T>A (p.Leu100Ter)	ATM (L100*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic
Select item 524256	NM_000051.4(ATM):c.305A>T (p.Lys102Ile)	ATM (K102I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 3240797	NM_000051.4(ATM):c.306A>C (p.Lys102Asn)	ATM (K102N)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 181958	NM_000051.4(ATM):c.322G>A (p.Ala108Thr)	ATM (A108T)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 407641	NM_000051.4(ATM):c.323C>G (p.Ala108Gly)	ATM (A108G)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 1730081	NM_000051.4(ATM):c.331+2_331+7del	ATM	Deletion (stop lost +1 more)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 487450	NM_000051.4(ATM):c.331+1G>A	ATM (S111N)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 230851	NM_000051.4(ATM):c.331+5G>A	ATM	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1730231	NM_000051.4(ATM):c.332-4A>G	ATM	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 407684	NM_000051.4(ATM):c.337C>T (p.Pro113Ser)	ATM (P113S)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 229996	NM_000051.4(ATM):c.338C>T (p.Pro113Leu)	ATM (P113L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2679758	NM_000051.4(ATM):c.340del (p.Arg114fs)	ATM (R114fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic/Likely pathogenic
Select item 489538	NM_000051.4(ATM):c.359T>C (p.Leu120Pro)	ATM (L120P)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +3 more	GUncertain significance
Select item 181867	NM_000051.4(ATM):c.368del (p.Tyr123fs)	ATM (Y123fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 185907	NM_000051.4(ATM):c.373A>G (p.Met125Val)	ATM (M125V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 186169	NM_000051.4(ATM):c.379A>T (p.Thr127Ser)	ATM (T127S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 141546	NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)	ATM	Deletion (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1395091	NM_000051.4(ATM):c.382del (p.Thr127_Val128insTer)	ATM	Deletion (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 265634	NM_000051.4(ATM):c.387del (p.Asp130fs)	ATM (D130fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 648619	NM_000051.4(ATM):c.390T>G (p.Asp130Glu)	ATM (D130E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 545994	NM_000051.4(ATM):c.392C>G (p.Ser131Ter)	ATM (S131*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 187595	NM_000051.4(ATM):c.394T>C (p.Ser132Pro)	ATM (S132P)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 824427	NM_000051.4(ATM):c.395C>G (p.Ser132Cys)	ATM (S132C)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 133632	NM_000051.4(ATM):c.400G>A (p.Gly134Ser)	ATM (G134S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 186081	NM_000051.4(ATM):c.401G>A (p.Gly134Asp)	ATM (G134D)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 453509	NM_000051.4(ATM):c.425G>A (p.Ser142Asn)	ATM (S142N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 639187	NM_000051.4(ATM):c.432A>G (p.Ile144Met)	ATM (I144M)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 142507	NM_000051.4(ATM):c.439A>G (p.Lys147Glu)	ATM (K147E)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 629296	NM_000051.4(ATM):c.445A>T (p.Ile149Phe)	ATM (I149F)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 574839	NM_000051.4(ATM):c.445A>G (p.Ile149Val)	ATM (I149V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 229717	NM_000051.4(ATM):c.467G>C (p.Trp156Ser)	ATM (W156S)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 825099	NM_000051.4(ATM):c.468G>A (p.Trp156Ter)	ATM (W156*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 569468	NM_000051.4(ATM):c.475A>G (p.Ile159Val)	ATM (I159V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 185501	NM_000051.4(ATM):c.478_482del (p.Ser160fs)	ATM (S160fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 656583	NM_000051.4(ATM):c.478T>C (p.Ser160Pro)	ATM (S160P)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 565865	NM_000051.4(ATM):c.484C>T (p.Gln162Ter)	ATM (Q162*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic

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