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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM, C11orf65
(V1941L)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Single nucleotide variant
(splice acceptor variant +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Deletion
(splice donor variant +1 more)
Familial cancer of breast
GPathogenic
ATM, C11orf65
(S2394L)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GLikely pathogenic
ATM, C11orf65
Single nucleotide variant
(non-coding transcript variant +2 more)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
C11orf65, ATM
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
ATM, C11orf65
Microsatellite
(splice donor variant +1 more)
not provided
+5 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Deletion
(intron variant)
Malignant tumor of breast
GPathogenic
C11orf65, ATM
Single nucleotide variant
(splice acceptor variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
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