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Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM
Single nucleotide variant
(synonymous variant)
Breast and/or ovarian cancer
+6 more
GConflicting classifications of pathogenicity
ATM
(M94V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
ATM
Deletion
(frameshift variant)
not provided
+4 more
GPathogenic/Likely pathogenic
ATM
(W164C)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+2 more
GUncertain significance
ATM
(A220V)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
ATM
Single nucleotide variant
(splice acceptor variant)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic
ATM
(S333F)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+6 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(intron variant)
Familial cancer of breast
GBenign
ATM
Deletion
(nonsense)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM
(D398E)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM
(R457*)
Single nucleotide variant
(nonsense)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic
ATM
(E522fs)
Microsatellite
(frameshift variant)
Seizure
+6 more
GPathogenic
ATM
Single nucleotide variant
(splice donor variant)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM
(T1020I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATM
Single nucleotide variant
(splice acceptor variant)
Breast-ovarian cancer, familial, susceptibility to, 1
+4 more
GPathogenic/Likely pathogenic
ATM
(L1111V)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM
Deletion
(nonsense)
Ataxia-telangiectasia syndrome
+5 more
GPathogenic
ATM
(L1283P)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GPathogenic/Likely pathogenic
ATM
(L1715P)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
ATM
(V1729L)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(splice acceptor variant)
not provided
+4 more
GPathogenic/Likely pathogenic
ATM
(L1850fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
ATM
(D1853V)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(L1956F)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+3 more
GUncertain significance
ATM, C11orf65
(Y1961C)
Single nucleotide variant
(missense variant +1 more)
Breast carcinoma
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(G2023R)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+6 more
GConflicting classifications of pathogenicity
C11orf65, ATM
(R2032K)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(E2052K)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(K2253R)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+1 more
GUncertain significance
ATM, C11orf65
(R2443*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+3 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
(splice acceptor variant +1 more)
Colorectal cancer
+4 more
GPathogenic
ATM, C11orf65
(V2716A)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Microsatellite
(splice donor variant +1 more)
not provided
+5 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(E2814G)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GUncertain significance
ATM, C11orf65
(C2931*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
C11orf65, ATM
(Q2989E)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+4 more
GUncertain significance
ATM, C11orf65
(E3007D)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
ATM, C11orf65
(G3051E)
Single nucleotide variant
(missense variant +1 more)
Colorectal polyposis
+1 more
GUncertain significance
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
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