U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 154

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM, C11orf65
(V1941L)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(Y1961C)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(K1964E)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer
+8 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(M1967V)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM, C11orf65
(R1973G)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
ATM, C11orf65
(L1989W)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
Insertion
(inframe_insertion +1 more)
Ataxia-telangiectasia syndrome
GUncertain significance
C11orf65, ATM
(K1992T)
Single nucleotide variant
(missense variant +1 more)
ATM-related condition
+8 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GBenign
C11orf65, ATM
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GBenign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GBenign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GBenign
ATM, C11orf65
(G2023R)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+6 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(I2030V)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+6 more
GBenign/Likely benign
ATM, C11orf65
(T2031I)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
ATM, C11orf65
(A2045D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ATM, C11orf65
(T2059I)
Single nucleotide variant
(missense variant +1 more)
ATM-related condition
+6 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(A2062E)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
(L2073F)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+3 more
GUncertain significance
C11orf65, ATM
(E2087G)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
ATM, C11orf65
(E2094fs)
Deletion
(frameshift variant +1 more)
Familial cancer of breast
+2 more
GPathogenic
ATM, C11orf65
(R2105S)
Single nucleotide variant
(missense variant +1 more)
ATM-related condition
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(V2115I)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+5 more
GUncertain significance
ATM, C11orf65
Deletion
(intron variant)
not provided
+2 more
GBenign/Likely benign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
+1 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(splice acceptor variant +1 more)
Familial cancer of breast
+2 more
GLikely pathogenic
ATM, C11orf65
(V2119L)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ATM, C11orf65
(R2136fs)
Duplication
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
GPathogenic
ATM, C11orf65
(S2165T)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GUncertain significance
ATM, C11orf65
(S2168L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(I2179M)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
C11orf65, ATM
(E2181D)
Single nucleotide variant
(missense variant +1 more)
ATM-related condition
+6 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(I2185T)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
C11orf65, ATM
Deletion
(intron variant)
Ataxia-telangiectasia syndrome
GBenign
ATM, C11orf65
Deletion
(intron variant)
Ataxia-telangiectasia syndrome
GBenign
ATM, C11orf65
Deletion
(intron variant)
not provided
+1 more
GBenign/Likely benign
ATM, C11orf65
Insertion
(intron variant)
Ataxia-telangiectasia syndrome
GBenign
C11orf65, ATM
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
C11orf65, ATM
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GBenign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GBenign
ATM, C11orf65
Deletion
(intron variant)
Ataxia-telangiectasia syndrome
GBenign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GBenign
C11orf65, ATM
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GBenign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GBenign
ATM, C11orf65
(S2192*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+1 more
GPathogenic
ATM, C11orf65
(M2224V)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
C11orf65, ATM
(L2226P)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
(R2227C)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GBenign/Likely benign
ATM, C11orf65
(I2230T)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+3 more
GUncertain significance
ATM, C11orf65
(A2274T)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(I2275M)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
(S2283L)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ATM, C11orf65
(G2287E)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
C11orf65, ATM
(G2287A)
Single nucleotide variant
(missense variant +1 more)
ATM-related condition
+6 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(F2299L)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM, C11orf65
(L2307F)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(S2310N)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
ATM, C11orf65
(A2325V)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
C11orf65, ATM
(S2329R)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(L2330V)
Single nucleotide variant
(missense variant +1 more)
ATM-related condition
+6 more
GConflicting classifications of pathogenicity
C11orf65, ATM
(T2333I)
Single nucleotide variant
(missense variant +1 more)
ATM-related condition
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(A2346V)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
ATM, C11orf65
(A2354V)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ATM, C11orf65
(S2389*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
GPathogenic
C11orf65, ATM
(T2396S)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(I2401T)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GUncertain significance
ATM, C11orf65
(S2408W)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM, C11orf65
(N2412D)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GLikely benign
C11orf65, ATM
(K2421T)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM, C11orf65
(E2423D)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM, C11orf65
(G2425S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATM, C11orf65
(T2438I)
Single nucleotide variant
(missense variant +1 more)
ATM-related condition
+6 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(V2439A)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
C11orf65, ATM
(R2459G)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
ATM, C11orf65
(C2464R)
Single nucleotide variant
(missense variant +1 more)
ATM-related condition
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(Y2470D)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(C2488Y)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Microsatellite
(frameshift variant +3 more)
Ataxia-telangiectasia syndrome
+1 more
GPathogenic
ATM, C11orf65
(M2532T)
Single nucleotide variant
(non-coding transcript variant +2 more)
Ataxia-telangiectasia syndrome
GUncertain significance
C11orf65, ATM
Deletion
(intron variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GBenign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GBenign
C11orf65, ATM
Single nucleotide variant
(splice acceptor variant +1 more)
Colorectal cancer
+4 more
GPathogenic
ATM, C11orf65
(A2566T)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM, C11orf65
(R2580S)
Single nucleotide variant
(missense variant +1 more)
ATM-related condition
+5 more
GConflicting classifications of pathogenicity
C11orf65, ATM
Single nucleotide variant
(intron variant)
Breast and/or ovarian cancer
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GBenign
ATM, C11orf65
Single nucleotide variant
(intron variant)
Ataxia-telangiectasia syndrome
GLikely benign
ATM, C11orf65
Single nucleotide variant
(intron variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(I2606V)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(I2606M)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
C11orf65, ATM
(C2624S)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+3 more
GUncertain significance
ATM, C11orf65
(D2625E)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
GPathogenic
ATM, C11orf65
Indel
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(A2626P)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
GPathogenic
ATM, C11orf65
(I2629fs)
Microsatellite
(frameshift variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
C11orf65, ATM
(Y2627C)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination