ClinVar for MedGen (Select 439) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367066	NM_000051.4(ATM):c.1235+2T>A	ATM	Single nucleotide variant (splice donor variant)	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 3336034	NC_000011.9:g.(108129803_108137897)_(108239830_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3255592	NM_000051.4(ATM):c.5276del (p.Pro1759fs)	ATM (P1759fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome	GLikely pathogenic
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 3244517	NC_000011.9:g.(?_108206562)_(108206698_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244516	NC_000011.9:g.(?_108113844)_(108175455_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244515	NC_000011.9:g.(?_108196125)_(108281972_?)del	ATM, C11orf65	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244514	NC_000011.9:g.(?_108170564)_(108179827_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244513	NC_000011.9:g.(?_108098539)_(108099937_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244512	NC_000011.9:g.(?_108098522)_(108105597_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244511	NC_000011.9:g.(?_108156909)_(108160359_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244510	NC_000011.9:g.(?_108154055)_(108160452_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 3244509	NC_000011.9:g.(?_108142107)_(108149132_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244507	NC_000011.9:g.(?_108139185)_(108143458_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 3244506	NC_000011.9:g.(?_108122622)_(108131084_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 3244505	NC_000011.9:g.(?_108119686)_(108120192_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 3244504	NC_000011.9:g.(?_108206635)_(108211067_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 3244503	NC_000011.9:g.(?_108117671)_(108119849_?)dup	ATM	Duplication	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 3244502	NC_000011.9:g.(?_108115495)_(108236235_?)dup	ATM	Duplication	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3244501	NC_000011.9:g.(?_108206552)_(108369093_?)dup	ATM, C11orf65 +1 more	Duplication	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3244500	NC_000011.9:g.(?_108170431)_(108175589_?)dup	ATM	Duplication	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3244499	NC_000011.9:g.(?_108163336)_(108236235_?)dup	ATM	Duplication	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3244498	NC_000011.9:g.(?_108159694)_(108225611_?)dup	ATM	Duplication	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 3244496	NC_000011.9:g.(?_108150208)_(108168119_?)dup	ATM	Duplication	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 3244495	NC_000011.9:g.(?_108098352)_(108192167_?)dup	ATM	Duplication	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3244494	NC_000011.9:g.(?_108098352)_(108143354_?)dup	ATM	Duplication	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3244493	NC_000011.9:g.(?_108098320)_(108138753_?)dup	ATM	Duplication	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3244492	NC_000011.9:g.(?_108137878)_(108236235_?)dup	ATM	Duplication	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3244491	NC_000011.9:g.(?_108129703)_(108236235_?)dup	ATM	Duplication	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3244490	NC_000011.9:g.(?_108129693)_(108160548_?)dup	ATM	Duplication	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 3244489	NC_000011.9:g.(?_108124521)_(108150355_?)dup	ATM	Duplication	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 3244488	NC_000011.9:g.(?_108093770)_(108216645_?)dup	ATM	Duplication	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3244487	NC_000011.9:g.(?_108137888)_(108138753_?)dup	ATM	Duplication	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 3244485	NC_000011.9:g.(?_108119640)_(108122778_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244484	NC_000011.9:g.(?_108216450)_(108236235_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244483	NC_000011.9:g.(?_108216460)_(108218102_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244482	NC_000011.9:g.(?_108106377)_(108236235_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244481	NC_000011.9:g.(?_108199738)_(108203637_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244480	NC_000011.9:g.(?_108186540)_(108196281_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244479	NC_000011.9:g.(?_108178604)_(108192167_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244478	NC_000011.9:g.(?_108163326)_(108170632_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GLikely pathogenic
Select item 3244477	NC_000011.9:g.(?_108163326)_(108168129_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244476	NC_000011.9:g.(?_108158168)_(108218112_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244473	NC_000011.9:g.(?_108158168)_(108165796_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244472	NC_000011.9:g.(?_108151712)_(108236288_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244471	NC_000011.9:g.(?_108151712)_(108183245_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244470	NC_000011.9:g.(?_108098352)_(108206708_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244469	NC_000011.9:g.(?_108098352)_(108106571_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244468	NC_000011.9:g.(?_108098352)_(108196972_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244467	NC_000011.9:g.(?_108098352)_(108159850_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244466	NC_000011.9:g.(?_108141781)_(108236235_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244465	NC_000011.9:g.(?_108137878)_(108236235_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244464	NC_000011.10:g.(?_108267161)_(108354884_?)del	ATM, C11orf65 +2 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244462	NC_000011.9:g.(?_108137888)_(108218102_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244461	NC_000011.9:g.(?_108137888)_(108196962_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244460	NC_000011.9:g.(?_108137888)_(108142143_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244459	NC_000011.9:g.(?_108137888)_(108141215_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3244458	NC_000011.9:g.(?_107992334)_(108206708_?)del	ACAT1, ATM +1 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244457	NC_000011.9:g.(?_107829383)_(108179594_?)del	ACAT1, ATM +3 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244456	NC_000011.9:g.(?_108117670)_(108118721_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244455	NC_000011.9:g.(?_108225528)_(108225611_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244454	NC_000011.9:g.(?_108168004)_(108168119_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3244453	NC_000011.9:g.(?_108158168)_(108158452_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3244451	NC_000011.9:g.(?_108128198)_(108128343_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 3148553	NM_000051.4(ATM):c.8265del (p.Thr2754_Tyr2755insTer)	ATM, C11orf65	Deletion (nonsense +1 more)	Ataxia-telangiectasia syndrome +1 more	GPathogenic/Likely pathogenic
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 +1 more	GBenign/Likely 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 +1 more	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

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