ClinVar for Gene (Select 472) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353840	NM_001330368.2(C11orf65):c.641-12222C>A	ATM, C11orf65	Single nucleotide variant (intron variant)	C11orf65-related disorder	GLikely benign
Select item 3353686	NM_000051.4(ATM):c.2639-377T>G	ATM	Single nucleotide variant (intron variant)	ATM-related disorder	GLikely benign
Select item 3350157	NM_000051.4(ATM):c.590_591delinsAT (p.Gly197Asp)	ATM (G197D)	Indel (missense variant)	ATM-related disorder	GUncertain significance
Select item 3349804	NM_000051.4(ATM):c.331+1G>T	ATM (S111I)	Single nucleotide variant (missense variant +1 more)	ATM-related disorder	GLikely pathogenic
Select item 3348153	NM_000051.4(ATM):c.4121C>T (p.Pro1374Leu)	ATM (P1374L)	Single nucleotide variant (missense variant)	ATM-related disorder	GUncertain significance
Select item 3347849	NM_000051.4(ATM):c.6107A>C (p.Tyr2036Ser)	ATM, C11orf65 (Y2036S)	Single nucleotide variant (missense variant +1 more)	ATM-related disorder	GUncertain significance
Select item 3345987	NM_000051.4(ATM):c.2839-1G>T	ATM	Single nucleotide variant (splice acceptor variant)	ATM-related disorder	GLikely pathogenic
Select item 3345591	NM_000051.4(ATM):c.218A>C (p.Glu73Ala)	ATM (E73A)	Single nucleotide variant (missense variant)	ATM-related disorder	GUncertain significance
Select item 3345521	NM_000051.4(ATM):c.2839-579A>T	ATM	Single nucleotide variant (intron variant)	ATM-related disorder	GLikely benign
Select item 3344686	NM_000051.4(ATM):c.640T>A (p.Ser214Thr)	ATM (S214T)	Single nucleotide variant (missense variant)	ATM-related disorder	GUncertain significance
Select item 3340762	NM_000051.4(ATM):c.5763-1G>T	ATM, C11orf65	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 3340599	NM_000051.4(ATM):c.4390G>A (p.Val1464Ile)	ATM (V1464I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340387	NM_000051.4(ATM):c.3781A>G (p.Ile1261Val)	ATM (I1261V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340305	NM_000051.4(ATM):c.327C>G (p.Asn109Lys)	ATM (N109K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338797	NM_000051.4(ATM):c.7573G>T (p.Ala2525Ser)	C11orf65, ATM (A2525S)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3338484	NM_000051.4(ATM):c.1668A>C (p.Lys556Asn)	ATM (K556N)	Single nucleotide variant (missense variant)	Hereditary cancer	GLikely benign
Select item 3337827	NM_000051.4(ATM):c.*2793A>G	ATM, C11orf65	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3337826	NM_000051.4(ATM):c.852del (p.Gln284fs)	ATM (Q284fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3337226	NM_000051.4:c.3285-1486_6007-1138dup	ATM	Duplication	not provided	GLikely pathogenic
Select item 3336367	NM_000051.4(ATM):c.883G>A (p.Ala295Thr)	ATM (A295T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336034	NC_000011.9:g.(108129803_108137897)_(108239830_?)del	ATM	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 3335931	NM_000051.4(ATM):c.1158GAA[1] (p.Lys388del)	ATM (K388del)	Microsatellite (inframe_deletion)	Hereditary breast ovarian cancer syndrome	GUncertain significance
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 3326786	NM_000051.4(ATM):c.3709A>C (p.Ile1237Leu)	ATM (I1237L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326776	NM_000051.4(ATM):c.8577T>C (p.Ser2859=)	C11orf65, ATM	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3326766	NM_000051.4(ATM):c.4124C>G (p.Ala1375Gly)	ATM (A1375G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 3326709	NM_000051.4(ATM):c.5209T>C (p.Leu1737=)	ATM	Single nucleotide variant (synonymous variant)	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 3326694	NM_000051.4(ATM):c.2976C>T (p.Asn992=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3326660	NM_000051.4(ATM):c.2815A>C (p.Thr939Pro)	ATM (T939P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326611	NM_000051.4(ATM):c.1802+4A>G	ATM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326600	NM_000051.4(ATM):c.6572+3A>T	C11orf65, ATM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326589	NM_000051.4(ATM):c.5275C>A (p.Pro1759Thr)	ATM (P1759T)	Single nucleotide variant (missense 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 3326570	NM_000051.4(ATM):c.1552G>A (p.Glu518Lys)	ATM (E518K)	Single nucleotide variant (missense variant)	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 3326543	NM_000051.4(ATM):c.4364G>A (p.Ser1455Asn)	ATM (S1455N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326537	NM_000051.4(ATM):c.6198+1G>T	C11orf65, ATM	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 3326434	NM_000051.4(ATM):c.3870T>G (p.Ile1290Met)	ATM (I1290M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326426	NM_000051.4(ATM):c.1123A>G (p.Arg375Gly)	ATM (R375G)	Single nucleotide variant (missense variant)	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 3326405	NM_000051.4(ATM):c.2540T>G (p.Met847Arg)	ATM (M847R)	Single nucleotide variant (missense variant)	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)	C11orf65, ATM (M2806del)	Microsatellite (inframe_indel +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326344	NM_000051.4(ATM):c.3488C>T (p.Ser1163Phe)	ATM (S1163F)	Single nucleotide variant (missense variant)	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 3326322	NM_000051.4(ATM):c.3111del (p.Ser1037_Val1038insTer)	ATM	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3326311	NM_000051.4(ATM):c.1295T>C (p.Leu432Pro)	ATM (L432P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326290	NM_000051.4(ATM):c.2613A>T (p.Glu871Asp)	ATM (E871D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326270	NM_000051.4(ATM):c.280A>T (p.Met94Leu)	ATM (M94L)	Single nucleotide variant (missense variant)	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 3326163	NM_000051.4(ATM):c.3147_3153delinsTTGCATTTTTTTA (p.Leu1049_Glu1051delinsPheCysIlePheLeu)	ATM	Indel (inframe_indel)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3326152	NM_000051.4(ATM):c.-30-1_-30del	ATM	Deletion (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 3326111	NM_000051.4(ATM):c.5302A>T (p.Arg1768Ter)	ATM (R1768*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
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 3326052	NM_000051.4(ATM):c.1338_1343del (p.Gln446_Arg447del)	ATM	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326041	NM_000051.4(ATM):c.4273C>A (p.Gln1425Lys)	ATM (Q1425K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326012	NM_000051.4(ATM):c.3446A>T (p.Asn1149Ile)	ATM (N1149I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3325980	NM_000051.4(ATM):c.5178-296A>G	ATM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
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 3325958	NM_000051.4(ATM):c.3249_3250insAA (p.Gln1084fs)	ATM (Q1084fs)	Insertion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
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 3325902	NM_000051.4(ATM):c.1984T>A (p.Phe662Ile)	ATM (F662I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3325883	NM_000051.4(ATM):c.2545del (p.Val849fs)	ATM (V849fs)	Deletion (frameshift variant)	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 3325835	NM_000051.4(ATM):c.4897A>C (p.Arg1633=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3325824	NM_000051.4(ATM):c.685C>A (p.Leu229Ile)	ATM (L229I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3325768	NM_000051.4(ATM):c.2656G>A (p.Ala886Thr)	ATM (A886T)	Single nucleotide variant (missense variant)	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 3325696	NM_000051.4(ATM):c.2598T>C (p.Val866=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3325689	NM_000051.4(ATM):c.293G>A (p.Ser98Asn)	ATM (S98N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3325648	NM_000051.4(ATM):c.970A>G (p.Ser324Gly)	ATM (S324G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3325639	NM_000051.4(ATM):c.3148C>G (p.Leu1050Val)	ATM (L1050V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3325621	NM_000051.4(ATM):c.2368T>A (p.Cys790Ser)	ATM (C790S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3325611	NM_000051.4(ATM):c.2882T>A (p.Leu961Ter)	ATM (L961*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3325580	NM_000051.4(ATM):c.2079T>G (p.Cys693Trp)	ATM (C693W)	Single nucleotide variant (missense variant)	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 3325549	NM_000051.4(ATM):c.4804G>A (p.Val1602Ile)	ATM (V1602I)	Single nucleotide variant (missense variant)	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 3325528	NM_000051.4(ATM):c.2376+4A>C	ATM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3325498	NM_000051.4(ATM):c.5324T>A (p.Leu1775Ter)	ATM (L1775*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3325463	NM_000051.4(ATM):c.4411A>T (p.Thr1471Ser)	ATM (T1471S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3325452	NM_000051.4(ATM):c.185G>T (p.Arg62Ile)	ATM (R62I)	Single nucleotide variant (missense variant)	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 3325273	NM_000051.4(ATM):c.1460T>G (p.Ile487Ser)	ATM (I487S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3325242	NM_000051.4(ATM):c.4959G>A (p.Gln1653=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3325201	NM_000051.4(ATM):c.2190T>G (p.Cys730Trp)	ATM (C730W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance

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