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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRAF
(L485F +7 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
ATM
(M1V)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
ATM
(M1T)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GPathogenic
ATM
(R35*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
ATM
(E522fs)
Microsatellite
(frameshift variant)
ATM-related condition
+7 more
GPathogenic
ATM
(L762fs)
Microsatellite
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM
(A1299fs)
Duplication
(frameshift variant)
not provided
+3 more
GPathogenic
ATM, C11orf65
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(E2052K)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
C11orf65, ATM
(A2067D)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Insertion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(R2227C)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+4 more
GPathogenic
ATM, C11orf65
Deletion
(inframe_deletion +1 more)
Breast and/or ovarian cancer
+5 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(I2629fs)
Microsatellite
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(V2716A)
Single nucleotide variant
(missense variant +1 more)
ATM-related condition
+5 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(R2832C)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GLikely pathogenic
ATM, C11orf65
Single nucleotide variant
(splice donor variant +1 more)
Familial cancer of breast
GPathogenic
ATM
Variation
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Deletion
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Variation
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Variation
Ataxia-telangiectasia syndrome
GPathogenic
ATM
Variation
Ataxia-telangiectasia syndrome
GPathogenic
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