C0004135[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 434433	NM_000051.3(ATM):c.-371G>C	ATM	Single nucleotide variant	Familial cancer of breast +2 more	GUncertain significance
Select item 224517	NM_000051.4(ATM):c.-30-1G>T	ATM	Single nucleotide variant (splice acceptor variant)	Ataxia-telangiectasia syndrome +3 more	GConflicting classifications of pathogenicity
Select item 482568	NM_000051.4(ATM):c.66A>G (p.Glu22=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome +2 more	GLikely benign
Select item 3025	NM_000051.4(ATM):c.103C>T (p.Arg35Ter)	ATM (R35*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
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 127344	NM_000051.4(ATM):c.202A>G (p.Ile68Val)	ATM (I68V)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
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 181957	NM_000051.4(ATM):c.283C>A (p.Gln95Lys)	ATM (Q95K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
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 127364	NM_000051.4(ATM):c.295A>G (p.Ser99Gly)	ATM (S99G)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 127368	NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)	ATM (C107Y)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 230851	NM_000051.4(ATM):c.331+5G>A	ATM	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 127370	NM_000051.4(ATM):c.334G>A (p.Ala112Thr)	ATM (A112T)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 128455	NM_000051.4(ATM):c.378T>A (p.Asp126Glu)	ATM (D126E)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 133632	NM_000051.4(ATM):c.400G>A (p.Gly134Ser)	ATM (G134S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 490578	NM_000051.4(ATM):c.471T>A (p.Cys157Ter)	ATM (C157*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome +2 more	GPathogenic/Likely pathogenic
Select item 127419	NM_000051.4(ATM):c.610G>A (p.Gly204Arg)	ATM (G204R)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 629484	NM_000051.4(ATM):c.649_651dup (p.Ile217dup)	ATM	Duplication (inframe_insertion)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 133640	NM_000051.4(ATM):c.659C>T (p.Ala220Val)	ATM (A220V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GUncertain significance
Select item 186862	NM_000051.4(ATM):c.668A>G (p.Glu223Gly)	ATM (E223G)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +3 more	GUncertain significance
Select item 142096	NM_000051.4(ATM):c.692A>G (p.His231Arg)	ATM (H231R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 181913	NM_000051.4(ATM):c.742C>T (p.Arg248Ter)	ATM (R248*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome +3 more	GPathogenic/Likely pathogenic
Select item 234262	NM_000051.4(ATM):c.799A>G (p.Thr267Ala)	ATM (T267A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 524297	NM_000051.4(ATM):c.871C>G (p.His291Asp)	ATM (H291D)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 186761	NM_000051.4(ATM):c.901+1G>A	ATM	Single nucleotide variant (splice donor variant)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
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 141123	NM_000051.4(ATM):c.967A>G (p.Ile323Val)	ATM (I323V)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 236665	NM_000051.4(ATM):c.1049C>T (p.Ala350Val)	ATM (A350V)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 231324	NM_000051.4(ATM):c.1051G>A (p.Asp351Asn)	ATM (D351N)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +3 more	GUncertain significance
Select item 818313	NM_000051.4(ATM):c.1065+4C>T	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3038	NM_000051.4(ATM):c.1066-6T>G	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast	GBenign FDA Recognized database
Select item 576129	NM_000051.4(ATM):c.1102C>G (p.Gln368Glu)	ATM (Q368E)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 480878	NM_000051.4(ATM):c.1109dup (p.Tyr370Ter)	ATM (Y370*)	Duplication (nonsense)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 553261	NM_000051.4(ATM):c.1120C>T (p.Gln374Ter)	ATM (Q374*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 280044	NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs)	ATM (S381fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 219999	NM_000051.4(ATM):c.1369C>T (p.Arg457Ter)	ATM (R457*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 219530	NM_000051.4(ATM):c.1370G>T (p.Arg457Leu)	ATM (R457L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 186322	NM_000051.4(ATM):c.1440A>C (p.Leu480Phe)	ATM (L480F)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +5 more	GUncertain significance
Select item 453367	NM_000051.4(ATM):c.1442T>G (p.Leu481Ter)	ATM (L481*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 142433	NM_000051.4(ATM):c.1464G>T (p.Trp488Cys)	ATM (W488C)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 127339	NM_000051.4(ATM):c.1516G>T (p.Gly506Cys)	ATM (G506C)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +6 more	GConflicting classifications of pathogenicity
Select item 127340	NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)	ATM (E522fs)	Microsatellite (frameshift variant)	Ataxia-telangiectasia syndrome +7 more	GPathogenic
Select item 133603	NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)	ATM (C532Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 133604	NM_000051.4(ATM):c.1636C>G (p.Leu546Val)	ATM (L546V)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 140916	NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)	ATM (R568I)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 236678	NM_000051.4(ATM):c.1704A>C (p.Arg568Ser)	ATM (R568S)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 246276	NM_000051.4(ATM):c.1918A>T (p.Lys640Ter)	ATM (K640*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome +3 more	GPathogenic/Likely pathogenic
Select item 629425	NM_000051.4(ATM):c.1927C>G (p.Leu643Val)	ATM (L643V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 233607	NM_000051.4(ATM):c.1931C>A (p.Ser644Ter)	ATM (S644*)	Single nucleotide variant (nonsense)	Familial cancer of breast +4 more	GPathogenic/Likely pathogenic
Select item 581696	NM_000051.4(ATM):c.1954T>C (p.Phe652Leu)	ATM (F652L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 141183	NM_000051.4(ATM):c.2021A>G (p.His674Arg)	ATM (H674R)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +6 more	GConflicting classifications of pathogenicity
Select item 232113	NM_000051.4(ATM):c.2036G>T (p.Gly679Val)	ATM (G679V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 186167	NM_000051.4(ATM):c.2098C>T (p.Gln700Ter)	ATM (Q700*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 420303	NM_000051.4(ATM):c.2150G>C (p.Arg717Pro)	ATM (R717P)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 420250	NM_000051.4(ATM):c.2150G>A (p.Arg717Gln)	ATM (R717Q)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +4 more	GUncertain significance
Select item 141238	NM_000051.4(ATM):c.2189G>A (p.Cys730Tyr)	ATM (C730Y)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +4 more	GUncertain significance
Select item 3044	NM_000051.4(ATM):c.2250G>A (p.Lys750=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 181926	NM_000051.4(ATM):c.2251-10T>G	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 127345	NM_000051.4(ATM):c.2269G>A (p.Gly757Arg)	ATM (G757R)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 127346	NM_000051.4(ATM):c.2275A>G (p.Ser759Gly)	ATM (S759G)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 127347	NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)	ATM (F763L)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 216021	NM_000051.4(ATM):c.2413C>T (p.Arg805Ter)	ATM (R805*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 142128	NM_000051.4(ATM):c.2414G>A (p.Arg805Gln)	ATM (R805Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 133607	NM_000051.4(ATM):c.2442C>A (p.Asp814Glu)	ATM (D814E)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +6 more	GBenign
Select item 187178	NM_000051.4(ATM):c.2492A>G (p.Asp831Gly)	ATM (D831G)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 184552	NM_000051.4(ATM):c.2522A>C (p.Asp841Ala)	ATM (D841A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 233529	NM_000051.4(ATM):c.2552A>G (p.Asp851Gly)	ATM (D851G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 407450	NM_000051.4(ATM):c.2554C>T (p.Gln852Ter)	ATM (Q852*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome +2 more	GPathogenic
Select item 232001	NM_000051.4(ATM):c.2569C>G (p.Leu857Val)	ATM (L857V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 236692	NM_000051.4(ATM):c.2579A>T (p.Asp860Val)	ATM (D860V)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +5 more	GUncertain significance
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 188232	NM_000051.4(ATM):c.2689T>A (p.Phe897Ile)	ATM (F897I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 185390	NM_000051.4(ATM):c.2720G>T (p.Cys907Phe)	ATM (C907F)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +3 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)	not specified +4 more	GUncertain significance
Select item 142194	NM_000051.4(ATM):c.2771G>A (p.Arg924Gln)	ATM (R924Q)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GUncertain significance
Select item 420010	NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)	ATM (E937fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 232455	NM_000051.4(ATM):c.2805G>A (p.Thr935=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome +3 more	GLikely benign
Select item 141763	NM_000051.4(ATM):c.2836A>G (p.Met946Val)	ATM (M946V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 185405	NM_000051.4(ATM):c.2839-3_2839delinsGATACTA	ATM	Indel (splice acceptor variant)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 220494	NM_000051.4(ATM):c.2848C>T (p.Leu950Phe)	ATM (L950F)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 187284	NM_000051.4(ATM):c.2921C>G (p.Ser974Cys)	ATM (S974C)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 141182	NM_000051.4(ATM):c.2921+1G>A	ATM	Single nucleotide variant (splice donor variant)	Ataxia-telangiectasia syndrome +4 more	GPathogenic/Likely pathogenic
Select item 136438	NM_000051.4(ATM):c.2922-21T>G	ATM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 135747	NM_000051.4(ATM):c.2941C>T (p.Arg981Cys)	ATM (R981C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 127366	NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)	ATM (N1005S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 188327	NM_000051.4(ATM):c.3080A>G (p.His1027Arg)	ATM (H1027R)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 407624	NM_000051.4(ATM):c.3106T>C (p.Phe1036Leu)	ATM (F1036L)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 419747	NM_000051.4(ATM):c.3161C>A (p.Pro1054His)	ATM (P1054H)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +3 more	GUncertain significance
Select item 127367	NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr)	ATM (A1059T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 142046	NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser)	ATM (N1081S)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 3033	NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)	ATM (H1082fs)	Indel (frameshift variant)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 234265	NM_000051.4(ATM):c.3257G>A (p.Arg1086His)	ATM (R1086H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 482652	NM_000051.4(ATM):c.3307G>C (p.Asp1103His)	ATM (D1103H)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 186152	NM_000051.4(ATM):c.3328G>A (p.Ala1110Thr)	ATM (A1110T)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 947246	NM_000051.4(ATM):c.3340A>G (p.Lys1114Glu)	ATM (K1114E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 233576	NM_000051.4(ATM):c.3371A>T (p.Tyr1124Phe)	ATM (Y1124F)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 127371	NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter)	ATM (Y1124*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome +4 more	GPathogenic/Likely pathogenic
Select item 133615	NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg)	ATM (Q1128R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 802750	NM_000051.4(ATM):c.3435del (p.Asp1145fs)	ATM (D1145fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome +2 more	GPathogenic/Likely pathogenic

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