Related gene-specific medical variations for Gene (Select 472) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068446	NM_000051.4(ATM):c.8152-260G>A	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3065675	NM_000051.4(ATM):c.1743dup (p.Phe582fs)	ATM (F582fs)	Duplication (frameshift variant)	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 3065239	NM_000051.4(ATM):c.9066del (p.Gly3023fs)	ATM, C11orf65 (G3023fs)	Deletion (frameshift variant +1 more)	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 3064129	NM_000051.4(ATM):c.2251-3T>G	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3062358	NM_000051.4:c.(331+1_332-1)_(496+1_497-1)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 3061416	NM_000051.4(ATM):c.7158_7164delinsCCGGTTT (p.Phe2387_Leu2388delinsArgPhe)	ATM, C11orf65	Indel (missense variant +1 more)	ATM-related condition	GUncertain significance
Select item 3048663	NM_000051.4(ATM):c.5763-1055G>C	ATM, C11orf65	Single nucleotide variant (intron variant)	ATM-related condition	GLikely benign
Select item 3044421	NM_000051.4(ATM):c.9090A>C (p.Gly3030=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	ATM-related condition	GLikely benign
Select item 3037003	NM_000051.4(ATM):c.5763-1046A>G	ATM, C11orf65	Single nucleotide variant (intron variant)	ATM-related condition	GLikely benign
Select item 3026739	NM_000051.4(ATM):c.7591dup (p.Met2531fs)	ATM, C11orf65 (M2531fs)	Duplication (non-coding transcript variant +2 more)	not provided	GPathogenic
Select item 3022318	NM_000051.4(ATM):c.6776C>A (p.Ser2259Tyr)	ATM, C11orf65 (S2259Y)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3022280	NM_000051.4(ATM):c.7089+7T>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3021647	NM_000051.4(ATM):c.7089+5G>T	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3021404	NM_000051.4(ATM):c.8727A>G (p.Arg2909=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3019731	NM_000051.4(ATM):c.6198+18T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3018435	NM_000051.4(ATM):c.7241A>G (p.Gln2414Arg)	ATM, C11orf65 (Q2414R)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3015768	NM_000051.4(ATM):c.8440G>C (p.Glu2814Gln)	ATM, C11orf65 (E2814Q)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3015284	NM_000051.4(ATM):c.6006+3A>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3013979	NM_000051.4(ATM):c.7928-15C>A	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3013135	NM_000051.4(ATM):c.5763-20T>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3009255	NM_000051.4(ATM):c.7978G>A (p.Glu2660Lys)	ATM, C11orf65 (E2660K)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3006785	NM_000051.4(ATM):c.9028T>C (p.Leu3010=)	C11orf65, ATM	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3005070	NM_000051.4(ATM):c.8786+11T>A	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3003593	NM_000051.4(ATM):c.8152-4G>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3000692	NM_000051.4(ATM):c.7876G>A (p.Ala2626Thr)	ATM, C11orf65 (A2626T)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2998580	NM_000051.4(ATM):c.8988-13T>A	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2997500	NM_000051.4(ATM):c.7776T>G (p.Ser2592=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2995033	NM_000051.4(ATM):c.7939A>G (p.Ile2647Val)	ATM, C11orf65 (I2647V)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2993360	NM_000051.4(ATM):c.7928-18C>T	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2993095	NM_000051.4(ATM):c.6145T>C (p.Tyr2049His)	ATM, C11orf65 (Y2049H)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2991213	NM_000051.4(ATM):c.6572+15T>C	C11orf65, ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2987783	NM_000051.4(ATM):c.8419-15A>T	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2987401	NM_000051.4(ATM):c.8308T>A (p.Cys2770Ser)	ATM, C11orf65 (C2770S)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2982304	NM_000051.4(ATM):c.9126del (p.Asn3044fs)	ATM, C11orf65 (N3044fs)	Deletion (frameshift variant +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 2982198	NM_000051.4(ATM):c.8988-18T>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2979881	NM_000051.4(ATM):c.8839A>G (p.Thr2947Ala)	ATM, C11orf65 (T2947A)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2970412	NM_000051.4(ATM):c.7312A>G (p.Thr2438Ala)	ATM, C11orf65 (T2438A)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2963352	NM_000051.4(ATM):c.8418+18T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2956617	NM_000051.4(ATM):c.6976-10T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2955490	NM_000051.4(ATM):c.6170C>T (p.Ser2057Leu)	ATM, C11orf65 (S2057L)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2955270	NM_000051.4(ATM):c.8152-18T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2955201	NM_000051.4(ATM):c.8842A>T (p.Ile2948Phe)	ATM, C11orf65 (I2948F)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2921288	NM_000051.4(ATM):c.6880G>A (p.Glu2294Lys)	C11orf65, ATM (E2294K)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance FDA Recognized database
Select item 2919935	NM_000051.4(ATM):c.6096-12C>T	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2918845	NM_000051.4(ATM):c.6348-19T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2916952	NM_000051.4(ATM):c.7089+15G>A	C11orf65, ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2915468	NM_000051.4(ATM):c.8230G>A (p.Glu2744Lys)	ATM, C11orf65 (E2744K)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2913605	NM_000051.4(ATM):c.8671+5G>A	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2911520	NM_000051.4(ATM):c.8415G>C (p.Met2805Ile)	ATM, C11orf65 (M2805I)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2910292	NM_000051.4(ATM):c.9008A>T (p.Asn3003Ile)	C11orf65, ATM (N3003I)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2910291	NM_000051.4(ATM):c.7807A>T (p.Asn2603Tyr)	ATM, C11orf65 (N2603Y)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2910290	NM_000051.4(ATM):c.7430_7432del (p.Gly2477del)	ATM, C11orf65 (G2477del)	Deletion (inframe_deletion +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2909648	NM_000051.4(ATM):c.6096-15A>T	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2908223	NM_000051.4(ATM):c.6007-13T>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2904674	NM_000051.4(ATM):c.8787-14G>T	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2902280	NM_000051.4(ATM):c.5918+8A>T	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2899281	NM_000051.4(ATM):c.7307+8G>A	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2898624	NM_000051.4(ATM):c.8585-18T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2889210	NM_000051.4(ATM):c.7963A>G (p.Lys2655Glu)	ATM, C11orf65 (K2655E)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2884167	NM_000051.4(ATM):c.7789-14T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2884047	NM_000051.4(ATM):c.8856T>C (p.Leu2952=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2884046	NM_000051.4(ATM):c.8418+681A>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2884045	NM_000051.4(ATM):c.7614T>C (p.His2538=)	ATM, C11orf65	Single nucleotide variant (non-coding transcript variant +2 more)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2884044	NM_000051.4(ATM):c.6720C>T (p.Asp2240=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2883635	NM_000051.4(ATM):c.7217A>G (p.Lys2406Arg)	ATM, C11orf65 (K2406R)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2883605	NM_000051.4(ATM):c.6889C>T (p.Gln2297Ter)	ATM, C11orf65 (Q2297*)	Single nucleotide variant (nonsense +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 2883533	NM_000051.4(ATM):c.8669T>G (p.Leu2890Arg)	ATM, C11orf65 (L2890R)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2883121	NM_000051.4(ATM):c.7928-18C>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2883098	NM_000051.4(ATM):c.8900C>T (p.Ala2967Val)	ATM, C11orf65 (A2967V)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2880903	NM_000051.4(ATM):c.8522A>T (p.Asp2841Val)	ATM, C11orf65 (D2841V)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2880241	NM_000051.4(ATM):c.6927G>C (p.Leu2309=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2879112	NM_000051.4(ATM):c.8853C>T (p.Val2951=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2875378	NM_000051.4(ATM):c.9151G>A (p.Gly3051Arg)	ATM, C11orf65 (G3051R)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2873797	NM_000051.4(ATM):c.6800A>T (p.Asn2267Ile)	ATM, C11orf65 (N2267I)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2870618	NM_000051.4(ATM):c.7789-22_7789-18del	ATM, C11orf65	Deletion (intron variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2866769	NM_000051.4(ATM):c.6199-1G>A	ATM, C11orf65	Single nucleotide variant (splice acceptor variant +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 2866547	NM_000051.4(ATM):c.6029del (p.Arg2010fs)	ATM, C11orf65 (R2010fs)	Deletion (frameshift variant +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 2865761	NM_000051.4(ATM):c.5898_5901dup (p.Asp1968fs)	ATM, C11orf65 (D1968fs)	Duplication (frameshift variant +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 2865535	NM_000051.4(ATM):c.6794_6795del (p.Thr2264_Phe2265insTer)	ATM, C11orf65	Deletion (nonsense +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 2865112	NM_000051.4(ATM):c.8433G>A (p.Lys2811=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2864170	NM_000051.4(ATM):c.8554T>G (p.Tyr2852Asp)	ATM, C11orf65 (Y2852D)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2863636	NM_000051.4(ATM):c.6096-7C>T	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2863368	NM_000051.4(ATM):c.7507del (p.Gly2502_Met2503insTer)	ATM, C11orf65	Deletion (nonsense +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 2863353	NM_000051.4(ATM):c.8128A>G (p.Lys2710Glu)	ATM, C11orf65 (K2710E)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2863097	NM_000051.4(ATM):c.9102G>A (p.Leu3034=)	C11orf65, ATM	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2863075	NM_000051.4(ATM):c.6975+18G>T	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2862776	NM_000051.4(ATM):c.8730C>T (p.Leu2910=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2862749	NM_000051.4(ATM):c.8772del (p.Gly2925fs)	ATM, C11orf65 (G2925fs)	Deletion (frameshift variant +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 2862656	NM_000051.4(ATM):c.7516-11T>G	ATM, C11orf65	Single nucleotide variant (non-coding transcript variant +1 more)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2862617	NM_000051.4(ATM):c.8152-9A>T	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2862482	NM_000051.4(ATM):c.7010G>T (p.Cys2337Phe)	ATM, C11orf65 (C2337F)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2862401	NM_000051.4(ATM):c.7374T>A (p.Asp2458Glu)	ATM, C11orf65 (D2458E)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2862191	NM_000051.4(ATM):c.6742A>T (p.Lys2248Ter)	ATM, C11orf65 (K2248*)	Single nucleotide variant (nonsense +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 2861420	NM_000051.4(ATM):c.7552C>A (p.Pro2518Thr)	ATM, C11orf65 (P2518T)	Single nucleotide variant (non-coding transcript variant +2 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2861069	NM_000051.4(ATM):c.8852T>A (p.Val2951Asp)	ATM, C11orf65 (V2951D)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2860768	NM_000051.4(ATM):c.6453-17_6453-16del	ATM, C11orf65	Deletion (intron variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2860675	NM_000051.4(ATM):c.6612_6613insC (p.Trp2205fs)	ATM, C11orf65 (W2205fs)	Insertion (frameshift variant +1 more)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 2860575	NM_000051.4(ATM):c.6807+2_6807+3insTCTTG	ATM, C11orf65	Insertion (intron variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2859927	NM_000051.4(ATM):c.6876G>A (p.Gln2292=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2859893	NM_000051.4(ATM):c.6452+16A>T	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign

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