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Items: 1 to 100 of 172

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(splice acceptor variant +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(A1931fs)
Indel
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(W1933*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(N1937S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ATM, C11orf65
(V1941L)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
C11orf65, ATM
(A1942V)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(Y1961C)
Single nucleotide variant
(missense variant +1 more)
Breast carcinoma
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(K1964*)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
C11orf65, ATM
(S1966fs)
Duplication
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM, C11orf65
(Q1970*)
Single nucleotide variant
(nonsense +1 more)
not provided
+4 more
GPathogenic
ATM, C11orf65
(E1971fs)
Deletion
(frameshift variant +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
+2 more
GLikely benign
ATM, C11orf65
Single nucleotide variant
(splice acceptor variant +1 more)
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM, C11orf65
Single nucleotide variant
(splice acceptor variant +1 more)
Familial cancer of breast
+2 more
GLikely pathogenic
C11orf65, ATM
(E1978*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+5 more
GPathogenic
ATM, C11orf65
(S1993fs)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
ATM, C11orf65
(K1992T)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+7 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GLikely benign
ATM, C11orf65
Duplication
(intron variant)
Familial cancer of breast
+2 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(E2014*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(Q2028*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
ATM, C11orf65
(I2030V)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GBenign/Likely benign
C11orf65, ATM
(R2032K)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(splice donor variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GLikely pathogenic
ATM, C11orf65
(Y2049D)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(splice donor variant +1 more)
Abnormal central motor function
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(intron variant)
Familial cancer of breast
+2 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(A2067D)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(I2076V)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
ATM, C11orf65
(L2098P)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
ATM, C11orf65
(W2109fs)
Duplication
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
C11orf65, ATM
(H2111R)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(splice donor variant +1 more)
Familial cancer of breast
+2 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(splice acceptor variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GLikely pathogenic
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
ATM, C11orf65
Insertion
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(splice donor variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
+3 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
(S2162fs)
Microsatellite
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GPathogenic/Likely pathogenic
C11orf65, ATM
Single nucleotide variant
(splice donor variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
+4 more
GConflicting classifications of pathogenicity
C11orf65, ATM
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
+6 more
GBenign
C11orf65, ATM
(R2196*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+2 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Microsatellite
(frameshift variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Deletion
(inframe_indel +1 more)
Ataxia-telangiectasia syndrome
GUncertain significance
C11orf65, ATM
(I2247V)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(E2272K)
Single nucleotide variant
(missense variant +1 more)
ATM-related disorder
+4 more
GUncertain significance
ATM, C11orf65
(Q2277E)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
ATM, C11orf65
(V2284fs)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(G2287E)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(G2287A)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Ataxia-telangiectasia syndrome
+5 more
GBenign/Likely benign
C11orf65, ATM
(F2299L)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GUncertain significance
ATM, C11orf65
Deletion
(splice donor variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(splice acceptor variant +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(Y2334fs)
Microsatellite
(frameshift variant +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
C11orf65, ATM
(T2333fs)
Duplication
(frameshift variant +1 more)
Familial cancer of breast
GPathogenic
ATM, C11orf65
(T2335I)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(splice donor variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GLikely pathogenic
ATM, C11orf65
(E2366*)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(S2376del)
Microsatellite
(inframe_indel +1 more)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Familial cancer of breast
+3 more
GBenign/Likely benign
ATM, C11orf65
(N2381fs)
Deletion
(frameshift variant +1 more)
Breast and/or ovarian cancer
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(S2389*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+1 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(V2424G)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GPathogenic
ATM, C11orf65
(K2431E)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ATM, C11orf65
(R2443*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(L2452P)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
C11orf65, ATM
(R2461C)
Single nucleotide variant
(missense variant +1 more)
ATM-related disorder
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(Y2470D)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+2 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(L2492R)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
+2 more
GBenign/Likely benign
ATM, C11orf65
Microsatellite
(splice acceptor variant +2 more)
Hereditary breast ovarian cancer syndrome
+4 more
GPathogenic
ATM, C11orf65
(Y2514*)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+1 more
GPathogenic
ATM, C11orf65
(P2518S)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+4 more
GUncertain significance
ATM, C11orf65
(V2540I)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Deletion
(non-coding transcript variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Duplication
(non-coding transcript variant +2 more)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(splice acceptor variant +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(splice acceptor variant +1 more)
Colorectal cancer
+4 more
GPathogenic
ATM, C11orf65
Deletion
(intron variant)
not provided
+4 more
GPathogenic/Likely pathogenic
C11orf65, ATM
Microsatellite
(frameshift variant +2 more)
not provided
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(K2589fs)
Deletion
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(Q2593R)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
C11orf65, ATM
Single nucleotide variant
(synonymous variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GBenign/Likely benign
ATM, C11orf65
(E2596D)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Malignant tumor of breast
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(intron variant)
not provided
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(intron variant)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(D2597Y)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(T2599fs)
Deletion
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM, C11orf65
(P2614fs)
Microsatellite
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Indel
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(I2629fs)
Microsatellite
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(Y2627fs)
Deletion
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(W2638*)
Single nucleotide variant
(nonsense +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Deletion
(intron variant)
Ataxia-telangiectasia syndrome
+2 more
GConflicting classifications of pathogenicity
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