U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ATM
(R250Q)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
ATM
(R447*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
ATM
(E522fs)
Microsatellite
(frameshift variant)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic
ATM
(F627C)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+5 more
GUncertain significance
ATM
(H1082fs)
Indel
(frameshift variant)
Familial cancer of breast
ATM
(A1309T)
Single nucleotide variant
(missense variant)
Familial cancer of breast
ATM, C11orf65
(K1964N)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
ATM, C11orf65
(T2396S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(V2424G)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
ATM, C11orf65
(C2488Y)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
C11orf65, ATM
(S2707C)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
ATM, C11orf65
(K2710R)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM, C11orf65
(A2798D)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GUncertain significance
C11orf65, ATM
(A2851V)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination