ClinVar for Gene (Select 472) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3240804	NM_000051.4(ATM):c.8658_8660del (p.His2887del)	ATM, C11orf65 (H2887del)	Deletion (inframe_deletion +1 more)	Familial cancer of breast	GUncertain significance
Select item 3240803	NM_000051.4(ATM):c.2671T>A (p.Ser891Thr)	ATM (S891T)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 3240802	NM_000051.4(ATM):c.6933del (p.Leu2312fs)	ATM, C11orf65 (L2312fs)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 3240801	NM_000051.4(ATM):c.2408_2409inv (p.Phe803Ter)	ATM (F803*)	Inversion (nonsense)	Familial cancer of breast	GLikely pathogenic
Select item 3240800	NM_000051.4(ATM):c.5035G>T (p.Gly1679Cys)	ATM (G1679C)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 3240799	NM_000051.4(ATM):c.8249T>G (p.Leu2750Ter)	ATM, C11orf65 (L2750*)	Single nucleotide variant (nonsense +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 3240798	NM_000051.4(ATM):c.8201_8211delinsGACCTG (p.Met2734fs)	ATM, C11orf65 (M2734fs)	Indel (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 3240797	NM_000051.4(ATM):c.306A>C (p.Lys102Asn)	ATM (K102N)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 3240796	NM_000051.4(ATM):c.7567T>G (p.Leu2523Val)	ATM, C11orf65 (L2523V)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial cancer of breast	GUncertain significance
Select item 3240795	NM_000051.4(ATM):c.659C>G (p.Ala220Gly)	ATM (A220G)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 3240794	NM_000051.4(ATM):c.8671_8671+1del	ATM, C11orf65	Deletion (splice donor variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 3240793	NM_000051.4(ATM):c.797G>A (p.Trp266Ter)	ATM (W266*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GLikely pathogenic
Select item 3240792	NM_000051.4(ATM):c.8598dup (p.Gly2867fs)	ATM, C11orf65 (G2867fs)	Duplication (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 3240791	NM_000051.4(ATM):c.5449G>A (p.Gly1817Arg)	ATM (G1817R)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 3240790	NM_000051.4(ATM):c.5447G>A (p.Ser1816Asn)	ATM (S1816N)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 3240789	NM_000051.4(ATM):c.4102T>A (p.Phe1368Ile)	ATM (F1368I)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 3240788	NM_000051.4(ATM):c.8217del (p.Gln2740fs)	ATM, C11orf65 (Q2740fs)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 3240787	NM_000051.4(ATM):c.8787-1dup	ATM, C11orf65	Duplication (splice acceptor variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 3240786	NM_000051.4(ATM):c.8573C>T (p.Thr2858Ile)	ATM, C11orf65 (T2858I)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 3240784	NM_000051.4(ATM):c.2376+158C>T	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 3240783	NM_000051.4(ATM):c.3975_3981del (p.Glu1325fs)	ATM (E1325fs)	Deletion (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 3240782	NM_000051.4(ATM):c.4442C>G (p.Ser1481Cys)	ATM (S1481C)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 3240781	NM_000051.4(ATM):c.2810A>T (p.Glu937Val)	ATM (E937V)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 3240780	NM_000051.4(ATM):c.1556T>A (p.Val519Asp)	ATM (V519D)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 3240778	NM_000051.4(ATM):c.5805_5809del (p.Asp1935fs)	ATM, C11orf65 (D1935fs)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 3240777	NM_000051.4(ATM):c.924G>A (p.Trp308Ter)	ATM (W308*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GLikely pathogenic
Select item 3240776	NM_000051.4(ATM):c.3847del (p.Leu1282_Leu1283insTer)	ATM	Deletion (nonsense)	Familial cancer of breast	GLikely pathogenic
Select item 3240775	NM_000051.4(ATM):c.6194_6195del (p.Ile2065fs)	ATM, C11orf65 (I2065fs)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 3240774	NM_000051.4(ATM):c.7468del (p.Leu2490fs)	ATM, C11orf65 (L2490fs)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 3240773	NM_000051.4(ATM):c.8363del (p.His2788fs)	ATM, C11orf65 (H2788fs)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 3240772	NM_000051.4(ATM):c.9113del (p.Gln3038fs)	ATM, C11orf65 (Q3038fs)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 3240771	NM_000051.4(ATM):c.880G>A (p.Gly294Arg)	ATM (G294R)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 3240770	NM_000051.4(ATM):c.7308-3A>G	ATM, C11orf65	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 3240768	NM_000051.4(ATM):c.6342del (p.Val2115fs)	ATM, C11orf65 (V2115fs)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 3240767	NM_000051.4(ATM):c.6556G>C (p.Gly2186Arg)	ATM, C11orf65 (G2186R)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 3240766	NM_000051.4(ATM):c.2729C>G (p.Thr910Ser)	ATM (T910S)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 3240765	NM_000051.4(ATM):c.259C>T (p.Gln87Ter)	ATM (Q87*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GLikely pathogenic
Select item 3240764	NM_000051.4:c.5902_5903insSVAelement	ATM	Insertion	Familial cancer of breast	GLikely pathogenic
Select item 3240762	NM_000051.4(ATM):c.6054_6056dup (p.Tyr2019Ter)	ATM, C11orf65 (Y2019*)	Duplication (nonsense +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 3240761	NM_000051.4(ATM):c.1803-27A>G	ATM	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 3240760	NM_000051.4(ATM):c.2384C>G (p.Pro795Arg)	ATM (P795R)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 3240759	NM_000051.4(ATM):c.5432G>A (p.Cys1811Tyr)	ATM (C1811Y)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 3240758	NM_000051.4(ATM):c.2840A>C (p.Tyr947Ser)	ATM (Y947S)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 3240719	NM_000051.4(ATM):c.1235+1dup	ATM	Duplication (splice donor variant)	Familial cancer of breast	GLikely pathogenic
Select item 3240708	NM_000051.4(ATM):c.6706G>A (p.Glu2236Lys)	ATM, C11orf65 (E2236K)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 3240685	NM_000051.4(ATM):c.7664del (p.His2555fs)	C11orf65, ATM (H2555fs)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 3239146	NM_000051.4(ATM):c.1425A>C (p.Ser475=)	ATM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236729	NM_000051.4(ATM):c.1003G>A (p.Gly335Arg)	ATM (G335R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233445	NM_000051.3:g.(?_108175383)_(108188278_?)del	ATM	Deletion	Familial cancer of breast	GPathogenic
Select item 3233210	NM_000051.4(ATM):c.3935G>A (p.Arg1312Lys)	ATM (R1312K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233184	NM_000051.4(ATM):c.3871C>T (p.Leu1291Phe)	ATM (L1291F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233160	NM_000051.4(ATM):c.3835T>A (p.Trp1279Arg)	ATM (W1279R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233118	NM_000051.4(ATM):c.3684A>G (p.Glu1228=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233116	NM_000051.4(ATM):c.3683A>G (p.Glu1228Gly)	ATM (E1228G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233094	NM_000051.4(ATM):c.3610del (p.Arg1204fs)	ATM (R1204fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3233089	NM_000051.4(ATM):c.3586A>T (p.Lys1196Ter)	ATM (K1196*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3233079	NM_000051.4(ATM):c.3574A>C (p.Lys1192Gln)	ATM (K1192Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233046	NM_000051.4(ATM):c.3471_3482dup (p.Val1161_Leu1162insIleAlaValVal)	ATM	Duplication (inframe_insertion +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233017	NM_000051.4(ATM):c.338del (p.Pro113fs)	ATM (P113fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3232976	NM_000051.4(ATM):c.331+2dup	ATM (K112*)	Duplication (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3232960	NM_000051.4(ATM):c.32G>A (p.Cys11Tyr)	ATM (C11Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232915	NM_000051.4(ATM):c.3238G>T (p.Asp1080Tyr)	ATM (D1080Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232914	NM_000051.4(ATM):c.3237_3238delinsCT (p.Asp1080Tyr)	ATM (D1080Y)	Indel (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232907	NM_000051.4(ATM):c.3217_3219dup (p.Val1073_Phe1074insVal)	ATM	Duplication (inframe_insertion +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232903	NM_000051.4(ATM):c.3205C>T (p.Pro1069Ser)	ATM (P1069S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3232887	NM_000051.4(ATM):c.3185A>G (p.Asn1062Ser)	ATM (N1062S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232858	NM_000051.4(ATM):c.3150T>G (p.Leu1050=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3232740	NM_000051.4(ATM):c.2993T>C (p.Val998Ala)	ATM (V998A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232717	NM_000051.4(ATM):c.2923A>T (p.Asn975Tyr)	ATM (N975Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232661	NM_000051.4(ATM):c.2756G>C (p.Arg919Thr)	ATM (R919T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232637	NM_000051.4(ATM):c.2730T>C (p.Thr910=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3232621	NM_000051.4(ATM):c.2701C>G (p.Leu901Val)	ATM (L901V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232606	NM_000051.4(ATM):c.2641G>T (p.Ala881Ser)	ATM (A881S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232544	NM_000051.4(ATM):c.2573T>G (p.Phe858Cys)	ATM (F858C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232502	NM_000051.4(ATM):c.2550G>T (p.Glu850Asp)	ATM (E850D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232462	NM_000051.4(ATM):c.2510C>A (p.Ser837Ter)	ATM (S837*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 3232422	NM_000051.4(ATM):c.2476A>T (p.Ile826Phe)	ATM (I826F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232403	NM_000051.4(ATM):c.2419T>A (p.Leu807Ile)	ATM (L807I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232393	NM_000051.4(ATM):c.2387A>C (p.Asn796Thr)	ATM (N796T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232375	NM_000051.4(ATM):c.2324C>T (p.Ser775Phe)	ATM (S775F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232364	NM_000051.4(ATM):c.227G>T (p.Arg76Ile)	ATM (R76I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232334	NM_000051.4(ATM):c.2191del (p.Tyr731fs)	ATM (Y731fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3232309	NM_000051.4(ATM):c.2139_2140del (p.Glu713fs)	ATM (E713fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3232297	NM_000051.4(ATM):c.2122G>A (p.Glu708Lys)	ATM (E708K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232284	NM_000051.4(ATM):c.2049C>G (p.His683Gln)	ATM (H683Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232280	NM_000051.4(ATM):c.2041T>C (p.Ser681Pro)	ATM (S681P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232279	NM_000051.4(ATM):c.2041_2042delinsCT (p.Ser681Leu)	ATM (S681L)	Indel (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232278	NM_000051.4(ATM):c.2032A>G (p.Ile678Val)	ATM (I678V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3232277	NM_000051.4(ATM):c.2022C>T (p.His674=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3232231	NM_000051.4(ATM):c.1922A>T (p.Glu641Val)	ATM (E641V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232222	NM_000051.4(ATM):c.186-1G>C	ATM	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3232215	NM_000051.4(ATM):c.1844T>G (p.Leu615Arg)	ATM (L615R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232208	NM_000051.4(ATM):c.1806T>G (p.Asn602Lys)	ATM (N602K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232206	NM_000051.4(ATM):c.1803T>G (p.Ser601Arg)	ATM (S601R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232190	NM_000051.4(ATM):c.1769A>G (p.Glu590Gly)	ATM (E590G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232188	NM_000051.4(ATM):c.1760G>C (p.Gly587Ala)	ATM (G587A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3232185	NM_000051.4(ATM):c.1753T>C (p.Leu585=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3232159	NM_000051.4(ATM):c.1662_1667delinsTT (p.Thr554_Val555insTer)	ATM	Indel (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3232147	NM_000051.4(ATM):c.1626_1628del (p.Leu542_Thr543delinsPhe)	ATM	Deletion (inframe_indel)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3232145	NM_000051.4(ATM):c.1615G>A (p.Val539Ile)	ATM (V539I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign

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