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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATR
Single nucleotide variant
(synonymous variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GBenign/Likely benign
ATR
(R2544fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GUncertain significance
ATR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GLikely benign
ATR
(S2452C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ATR
(R2425Q +1 more)
Single nucleotide variant
(missense variant)
Seckel syndrome 1
+3 more
GBenign
ATR
Single nucleotide variant
(splice acceptor variant)
Seckel syndrome 1
+1 more
GLikely pathogenic
ATR
Single nucleotide variant
(synonymous variant)
Seckel syndrome 1
+4 more
GBenign/Likely benign
ATR
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
ATR
Single nucleotide variant
(synonymous variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GBenign/Likely benign
ATR
Duplication
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ATR
Deletion
(intron variant)
Seckel syndrome 1
+2 more
GBenign
ATR
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
ATR
Single nucleotide variant
(synonymous variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GBenign
ATR
(V959M +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
ATR
Single nucleotide variant
(synonymous variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GBenign
ATR
Single nucleotide variant
(synonymous variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GBenign/Likely benign
ATR
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
ATR
Single nucleotide variant
(intron variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+2 more
GBenign
ATR
Deletion
not specified
GUncertain significance
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