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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM
(R23*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+3 more
GPathogenic
ATM
(D58Y)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
ATM
(N230fs)
Deletion
(frameshift variant)
Familial cancer of breast
+6 more
GPathogenic/Likely pathogenic
ATM
(E522fs)
Microsatellite
(frameshift variant)
Hereditary cancer-predisposing syndrome
+6 more
GPathogenic
ATM
Single nucleotide variant
(splice acceptor variant)
Ataxia-telangiectasia syndrome
+1 more
GPathogenic
ATM
Deletion
(nonsense)
Ataxia-telangiectasia syndrome
+5 more
GPathogenic
ATM
Single nucleotide variant
(splice acceptor variant)
Familial cancer of breast
+2 more
GPathogenic/Likely pathogenic
ATM
Deletion
(nonsense)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
ATM
(Q1839*)
Single nucleotide variant
(nonsense)
Ataxia-telangiectasia syndrome
+2 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(E1978*)
Single nucleotide variant
(nonsense +1 more)
Breast and/or ovarian cancer
+5 more
GPathogenic
ATM, C11orf65
(Q2028fs)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(R2032K)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(R2443*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(intron variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(I2606V)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(V2716A)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(splice donor variant +1 more)
Familial cancer of breast
GLikely pathogenic
ATM, C11orf65
(V2757M)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
ATM, C11orf65
(Q2809*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(R2832C)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GLikely pathogenic
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