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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM
Duplication
(intron variant)
not specified
GBenign/Likely benign
ATM
(F582fs)
Duplication
(frameshift variant)
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM
(H635fs)
Microsatellite
(frameshift variant)
Familial cancer of breast
+1 more
GPathogenic/Likely pathogenic
ATM
(S644*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
ATM
(H1083R)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+2 more
GPathogenic/Likely pathogenic
ATM
Deletion
(intron variant)
Hereditary cancer-predisposing syndrome
+5 more
GBenign/Likely benign
ATM
Duplication
(intron variant)
not provided
+5 more
GBenign/Likely benign
ATM
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
ATM
(D1853N)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign
ATM
(R1882*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GBenign/Likely benign
ATM, C11orf65
(L2077fs)
Deletion
(frameshift variant +1 more)
not provided
+4 more
GPathogenic
ATM, C11orf65
Single nucleotide variant
(non-coding transcript variant +2 more)
Ataxia-telangiectasia syndrome
+2 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(I2559fs)
Duplication
(frameshift variant +1 more)
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM, C11orf65
(Y2677*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
GLikely pathogenic
ATM, C11orf65
(V2716A)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
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