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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM
(S49C)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GBenign
ATM
(V182L)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+5 more
GBenign/Likely benign
ATM
(G514D)
Single nucleotide variant
(missense variant)
not specified
+6 more
GBenign/Likely benign
ATM
(E522fs)
Microsatellite
(frameshift variant)
Familial cancer of breast
+7 more
GPathogenic
ATM
(L546V)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+6 more
GBenign/Likely benign
ATM
(P872S)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GBenign
ATM
(M1040V)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GBenign
ATM
(Q1128R)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+5 more
GBenign/Likely benign
ATM
Duplication
(intron variant)
Breast and/or ovarian cancer
+2 more
GBenign
ATM, C11orf65
(V1941L)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(L2332P)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GBenign
ATM, C11orf65
(T2743M)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+3 more
GUncertain significance
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