ClinVar for MedGen (Select 439) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075875	NM_000051.4(ATM):c.8031T>G (p.Tyr2677Ter)	ATM, C11orf65 (Y2677*)	Single nucleotide variant (nonsense +1 more)	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 3075858	NM_000051.4(ATM):c.7674dup (p.Ile2559fs)	ATM, C11orf65 (I2559fs)	Duplication (frameshift variant +1 more)	Ataxia-telangiectasia syndrome	GLikely pathogenic
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 3023656	NM_000051.4(ATM):c.1930T>C (p.Ser644Pro)	ATM (S644P)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3022909	NM_000051.4(ATM):c.1898+19C>T	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
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 3021109	NM_000051.4(ATM):c.1444A>G (p.Lys482Glu)	ATM (K482E)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3020849	NM_000051.4(ATM):c.5028del (p.Glu1677fs)	ATM (E1677fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3019938	NM_000051.4(ATM):c.508G>C (p.Val170Leu)	ATM (V170L)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3019761	NM_000051.4(ATM):c.665A>G (p.Gln222Arg)	ATM (Q222R)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
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 3018735	NM_000051.4(ATM):c.2828A>G (p.His943Arg)	ATM (H943R)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
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 3017044	NM_000051.4(ATM):c.2633C>T (p.Thr878Ile)	ATM (T878I)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3016308	NM_000051.4(ATM):c.3746+9A>G	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
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 3015563	NM_000051.4(ATM):c.4750A>G (p.Ser1584Gly)	ATM (S1584G)	Single nucleotide variant (missense variant)	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 3014406	NM_000051.4(ATM):c.72+12C>T	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
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 3013409	NM_000051.4(ATM):c.5722A>G (p.Thr1908Ala)	ATM (T1908A)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
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 3013016	NM_000051.4(ATM):c.3409A>G (p.Ser1137Gly)	ATM (S1137G)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3012473	NM_000051.4(ATM):c.72+8del	ATM	Deletion (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3012440	NM_000051.4(ATM):c.1553_1555del (p.Glu518del)	ATM (E518del)	Deletion (inframe_deletion)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3011885	NM_000051.4(ATM):c.272A>C (p.Gln91Pro)	ATM (Q91P)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
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 3007121	NM_000051.4(ATM):c.1343A>T (p.His448Leu)	ATM (H448L)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3006785	NM_000051.4(ATM):c.9028T>C (p.Leu3010=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3006721	NM_000051.4(ATM):c.4951T>A (p.Leu1651Met)	ATM (L1651M)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3006410	NM_000051.4(ATM):c.62C>G (p.Thr21Arg)	ATM (T21R)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
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 3004486	NM_000051.4(ATM):c.5714C>G (p.Ser1905Ter)	ATM (S1905*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3004136	NM_000051.4(ATM):c.3746G>A (p.Arg1249Lys)	ATM (R1249K)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
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 3002935	NM_000051.4(ATM):c.4777-14A>G	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 3002661	NM_000051.4(ATM):c.1802+1G>A	ATM	Single nucleotide variant (splice donor variant)	Ataxia-telangiectasia syndrome	GPathogenic
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 2999029	NM_000051.4(ATM):c.3577-16T>G	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
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 2998430	NM_000051.4(ATM):c.3976A>G (p.Asn1326Asp)	ATM (N1326D)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
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 2996798	NM_000051.4(ATM):c.3154-16A>C	ATM	Single nucleotide variant (intron variant)	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 2991440	NM_000051.4(ATM):c.4984A>G (p.Thr1662Ala)	ATM (T1662A)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2991213	NM_000051.4(ATM):c.6572+15T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2991162	NM_000051.4(ATM):c.1066-19A>T	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2988474	NM_000051.4(ATM):c.3746+15_3746+19del	ATM	Deletion (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 2985292	NM_000051.4(ATM):c.3666A>G (p.Leu1222=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2984963	NM_000051.4(ATM):c.1241A>T (p.Gln414Leu)	ATM (Q414L)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2984200	NM_000051.4(ATM):c.2116T>A (p.Ser706Thr)	ATM (S706T)	Single nucleotide variant (missense variant)	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 2982302	NM_000051.4(ATM):c.3397G>T (p.Glu1133Ter)	ATM (E1133*)	Single nucleotide variant (nonsense)	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 2981467	NM_000051.4(ATM):c.5177+17A>C	ATM	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 2977582	NM_000051.4(ATM):c.4901C>T (p.Ala1634Val)	ATM (A1634V)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2976501	NM_000051.4(ATM):c.4360A>G (p.Lys1454Glu)	ATM (K1454E)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2975564	NM_000051.4(ATM):c.2750_2752del (p.Ser917del)	ATM (S917del)	Deletion (inframe_deletion)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2972292	NM_000051.4(ATM):c.3154-12C>T	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
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 2966187	NM_000051.4(ATM):c.3389G>T (p.Gly1130Val)	ATM (G1130V)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2964247	NM_000051.4(ATM):c.4255C>A (p.Leu1419Ile)	ATM (L1419I)	Single nucleotide variant (missense variant)	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 2960202	NM_000051.4(ATM):c.2070G>A (p.Leu690=)	ATM	Single nucleotide variant (synonymous 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)	C11orf65, ATM (I2948F)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2919935	NM_000051.4(ATM):c.6096-12C>T	C11orf65, ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2919498	NM_000051.4(ATM):c.5319G>T (p.Lys1773Asn)	ATM (K1773N)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 2918845	NM_000051.4(ATM):c.6348-19T>C	C11orf65, ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2918773	NM_000051.4(ATM):c.185+18A>C	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2917924	NM_000051.4(ATM):c.1974C>T (p.Asp658=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2916962	NM_000051.4(ATM):c.5762+18G>A	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2916952	NM_000051.4(ATM):c.7089+15G>A	ATM, C11orf65	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2916692	NM_000051.4(ATM):c.5655C>A (p.Thr1885=)	ATM	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2916265	NM_000051.4(ATM):c.4611+15C>T	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2915618	NM_000051.4(ATM):c.2124+20G>A	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 2915467	NM_000051.4(ATM):c.700G>T (p.Ala234Ser)	ATM (A234S)	Single nucleotide variant (missense variant)	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 2913273	NM_000051.4(ATM):c.4237-14T>G	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2913218	NM_000051.4(ATM):c.1608-19G>C	ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome	GLikely benign
Select item 2912981	NM_000051.4(ATM):c.2767A>C (p.Ile923Leu)	ATM (I923L)	Single nucleotide variant (missense 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

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