Related gene-specific medical variations for Gene (Select 160140) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326815	NM_000051.4(ATM):c.8835G>C (p.Leu2945=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3326776	NM_000051.4(ATM):c.8577T>C (p.Ser2859=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3326716	NM_000051.4(ATM):c.8319T>A (p.Thr2773=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3326700	NM_000051.4(ATM):c.6972A>T (p.Ala2324=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3326600	NM_000051.4(ATM):c.6572+3A>T	ATM, C11orf65	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326579	NM_000051.4(ATM):c.6953A>G (p.Lys2318Arg)	ATM, C11orf65 (K2318R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326558	NM_000051.4(ATM):c.6485G>C (p.Ser2162Thr)	ATM, C11orf65 (S2162T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326537	NM_000051.4(ATM):c.6198+1G>T	ATM, C11orf65	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3326530	NM_000051.4(ATM):c.6680G>T (p.Arg2227Leu)	ATM, C11orf65 (R2227L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326415	NM_000051.4(ATM):c.9165G>C (p.Trp3055Cys)	ATM, C11orf65 (W3055C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326395	NM_000051.4(ATM):c.7727A>C (p.Glu2576Ala)	ATM, C11orf65 (E2576A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326363	NM_000051.4(ATM):c.8413ATG[1] (p.Met2806del)	ATM, C11orf65 (M2806del)	Microsatellite (inframe_indel +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326333	NM_000051.4(ATM):c.6269A>G (p.Asp2090Gly)	ATM, C11orf65 (D2090G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326259	NM_000051.4(ATM):c.8467G>A (p.Val2823Ile)	ATM, C11orf65 (V2823I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3326249	NM_000051.4(ATM):c.9130A>G (p.Asn3044Asp)	ATM, C11orf65 (N3044D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326192	NM_000051.4(ATM):c.6991A>C (p.Lys2331Gln)	ATM, C11orf65 (K2331Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326174	NM_000051.4(ATM):c.8229G>C (p.Thr2743=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3326132	NM_000051.4(ATM):c.7515G>C (p.Lys2505Asn)	ATM, C11orf65 (K2505N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326122	NM_000051.4(ATM):c.8776G>T (p.Val2926Phe)	ATM, C11orf65 (V2926F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326072	NM_000051.4(ATM):c.8539G>A (p.Glu2847Lys)	ATM, C11orf65 (E2847K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3325969	NM_000051.4(ATM):c.6096-4A>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3325939	NM_000051.4(ATM):c.6621dup (p.His2208fs)	ATM, C11orf65 (H2208fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3325863	NM_000051.4(ATM):c.6235G>T (p.Val2079Phe)	ATM, C11orf65 (V2079F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3325757	NM_000051.4(ATM):c.9164G>A (p.Trp3055Ter)	ATM, C11orf65 (W3055*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3325747	NM_000051.4(ATM):c.8185C>A (p.Gln2729Lys)	ATM, C11orf65 (Q2729K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3325570	NM_000051.4(ATM):c.7252A>C (p.Lys2418Gln)	ATM, C11orf65 (K2418Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3325540	NM_000051.4(ATM):c.6997A>T (p.Thr2333Ser)	ATM, C11orf65 (T2333S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3325442	NM_000051.4(ATM):c.5951del (p.Thr1984fs)	ATM, C11orf65 (T1984fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3325428	NM_000051.4(ATM):c.8810T>G (p.Val2937Gly)	ATM, C11orf65 (V2937G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3325367	NM_000051.4(ATM):c.6266A>G (p.Lys2089Arg)	ATM, C11orf65 (K2089R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3325338	NM_000051.4(ATM):c.7432G>C (p.Glu2478Gln)	ATM, C11orf65 (E2478Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3325300	NM_000051.4(ATM):c.8419-7T>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3325289	NM_000051.4(ATM):c.6745G>C (p.Asp2249His)	ATM, C11orf65 (D2249H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3325163	NM_000051.4(ATM):c.9014T>G (p.Val3005Gly)	ATM, C11orf65 (V3005G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3325087	NM_000051.4(ATM):c.8013G>A (p.Val2671=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3325020	NM_000051.4(ATM):c.6062G>T (p.Cys2021Phe)	ATM, C11orf65 (C2021F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3324367	NM_000051.4(ATM):c.8648C>T (p.Ala2883Val)	ATM, C11orf65 (A2883V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3324148	NM_000051.4(ATM):c.7396G>A (p.Ala2466Thr)	ATM, C11orf65 (A2466T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3322620	NM_000051.4(ATM):c.7504G>A (p.Gly2502Ser)	ATM, C11orf65 (G2502S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3322324	NM_000051.4(ATM):c.8063C>A (p.Ala2688Glu)	ATM, C11orf65 (A2688E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3321974	NM_000051.4(ATM):c.7304A>T (p.Asn2435Ile)	ATM, C11orf65 (N2435I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3257797	NM_000051.4(ATM):c.8172_8189del (p.Asp2725_Gln2730del)	ATM, C11orf65	Deletion (inframe_deletion +1 more)	Neoplasm	OUncertain significance
Select item 3257795	NM_000051.4(ATM):c.7208_7213del (p.Asn2403_Tyr2404del)	ATM, C11orf65	Deletion (inframe_deletion +1 more)	Neoplasm	OUncertain significance
Select item 3257794	NM_000051.4(ATM):c.6607dup (p.Ile2203fs)	ATM, C11orf65 (I2203fs)	Duplication (frameshift variant +1 more)	Neoplasm	OOncogenic
Select item 3257793	NM_000051.4(ATM):c.6031A>G (p.Ser2011Gly)	ATM, C11orf65 (S2011G)	Single nucleotide variant (missense variant +1 more)	Neoplasm	OUncertain significance
Select item 3256366	NM_000051.4(ATM):c.7091C>A (p.Ala2364Glu)	ATM, C11orf65 (A2364E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3256202	NM_000051.4(ATM):c.8787-28T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256201	NM_000051.4(ATM):c.8418+47C>T	ATM, C11orf65	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256200	NM_000051.4(ATM):c.8152-19A>C	ATM, C11orf65	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256199	NM_000051.4(ATM):c.8010+33A>T	ATM, C11orf65	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256198	NM_000051.4(ATM):c.7515+47_7515+48insTTC	ATM, C11orf65	Insertion (intron variant)	not specified	GLikely benign
Select item 3256197	NM_000051.4(ATM):c.7307+50_7307+51del	ATM, C11orf65	Deletion (intron variant)	not specified	GLikely benign
Select item 3256196	NM_000051.4(ATM):c.7075A>C (p.Thr2359Pro)	ATM, C11orf65 (T2359P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3256195	NM_000051.4(ATM):c.6975+22G>A	ATM, C11orf65	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256194	NM_000051.4(ATM):c.6573-34C>A	ATM, C11orf65	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256193	NM_000051.4(ATM):c.6381A>T (p.Ser2127=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3256192	NM_000051.4(ATM):c.6347+38C>G	ATM, C11orf65	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256191	NM_000051.4(ATM):c.5919-12T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3255491	NM_000051.4(ATM):c.6725C>A (p.Ser2242Ter)	ATM, C11orf65 (S2242*)	Single nucleotide variant (nonsense +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3254528	NM_000051.4(ATM):c.6808-18A>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254525	NM_000051.4(ATM):c.6096-16C>T	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254518	NM_000051.4(ATM):c.8439T>C (p.Phe2813=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254513	NM_000051.4(ATM):c.8457C>T (p.Val2819=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254510	NM_000051.4(ATM):c.7630-13T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	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 3254508	NM_000051.4(ATM):c.5763-20T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254507	NM_000051.4(ATM):c.6007-13T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254506	NM_000051.4(ATM):c.6007-15T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254495	NM_000051.4(ATM):c.7516-18T>C	ATM, C11orf65	Single nucleotide variant (non-coding transcript variant +1 more)	Familial cancer of breast	GLikely benign
Select item 3254491	NM_000051.4(ATM):c.7146A>G (p.Gly2382=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254490	NM_000051.4(ATM):c.7044G>C (p.Thr2348=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254489	NM_000051.4(ATM):c.6096-11T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254484	NM_000051.4(ATM):c.8585-13C>T	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254457	NM_000051.4(ATM):c.8079A>G (p.Ala2693=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254454	NM_000051.4(ATM):c.6633T>C (p.Leu2211=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254451	NM_000051.4(ATM):c.7803T>C (p.Ala2601=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254450	NM_000051.4(ATM):c.7380A>G (p.Lys2460=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254443	NM_000051.4(ATM):c.8011-13A>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254440	NM_000051.4(ATM):c.5814T>C (p.Tyr1938=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254438	NM_000051.4(ATM):c.6877C>T (p.Leu2293=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254431	NM_000051.4(ATM):c.8786+8_8786+11delinsCTAC	ATM, C11orf65	Indel (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254422	NM_000051.4(ATM):c.7927+8T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254421	NM_000051.4(ATM):c.6411C>T (p.Asp2137=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254418	NM_000051.4(ATM):c.8835G>A (p.Leu2945=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254399	NM_000051.4(ATM):c.8279del (p.Leu2760fs)	ATM, C11orf65 (L2760fs)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GPathogenic
Select item 3254393	NM_000051.4(ATM):c.8180_8184dup (p.Gln2729fs)	ATM, C11orf65 (Q2729fs)	Duplication (frameshift variant +1 more)	Familial cancer of breast	GPathogenic
Select item 3254377	NM_000051.4(ATM):c.6976-2del	ATM, C11orf65	Deletion (splice acceptor variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 3254358	NM_000051.4(ATM):c.7307+9del	ATM, C11orf65	Deletion (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254355	NM_000051.4(ATM):c.6573-17_6573-16insCCCT	ATM, C11orf65	Insertion (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254352	NM_000051.4(ATM):c.6199-16_6199-15del	ATM, C11orf65	Deletion (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254345	NM_000051.4(ATM):c.6348-8del	ATM, C11orf65	Deletion (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254338	NM_000051.4(ATM):c.8851-17A>T	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254336	NM_000051.4(ATM):c.6237C>G (p.Val2079=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254335	NM_000051.4(ATM):c.8280C>G (p.Leu2760=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254333	NM_000051.4(ATM):c.8638G>T (p.Glu2880Ter)	ATM, C11orf65 (E2880*)	Single nucleotide variant (nonsense +1 more)	Familial cancer of breast	GPathogenic
Select item 3254332	NM_000051.4(ATM):c.6024C>A (p.Ile2008=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254331	NM_000051.4(ATM):c.8664A>T (p.Ile2888=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign
Select item 3254329	NM_000051.4(ATM):c.8584+8del	ATM, C11orf65	Deletion (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254321	NM_000051.4(ATM):c.6573-18dup	ATM, C11orf65	Duplication (intron variant)	Familial cancer of breast	GLikely benign
Select item 3254317	NM_000051.4(ATM):c.8601A>T (p.Gly2867=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast	GBenign

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